Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm.
paper
Cited
Public
Unavailable
- Authors
- Kumar, Prateek; Henikoff, Steven; Ng, Pauline C
- Year
- 2009
- Journal
- Nature protocols
- PMID
- 19561590
- DOI
- 10.1038/nprot.2009.86
The effect of genetic mutation on phenotype is of significant interest in genetics. The type of genetic mutation that causes a single amino acid substitution (AAS) in a protein sequence is called a non-synonymous single nucleotide polymorphism (nsSNP). An nsSNP could potentially affect the function of the protein, subsequently altering the carrier's phenotype. This protocol describes the use of the 'Sorting Tolerant From Intolerant' (SIFT) algorithm in predicting whether an AAS affects protein function. To assess the effect of a substitution, SIFT assumes that important positions in a protein sequence have been conserved throughout evolution and therefore substitutions at these positions may affect protein function. Thus, by using sequence homology, SIFT predicts the effects of all possible substitutions at each position in the protein sequence. The protocol typically takes 5-20 min, depending on the input. SIFT is available as an online tool (http://sift.jcvi.org).
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| A Patient With Charcot-Marie-Tooth Disease Type 4C (CMT4C) Presenting With Muscle Fasciculations and Motor Neuropathy. | Peddareddygari LR et al. | β | 2024 | β |
| Artificial Intelligence Advancements in Cardiomyopathies: Implications for Diagnosis and Management of Arrhythmogenic Cardiomyopathy. | Salavati A et al. | β | 2024 | β |
| Assessing the genetic risk of nodular melanoma using a candidate gene approach. | Stark MS et al. | β | 2024 | β |
| Assessment of ability of AlphaMissense to identify variants affecting susceptibility to common disease. | Curtis D | β | 2024 | β |
| Association of tyrosine kinase 2 polymorphisms with susceptibility to microscopic polyangiitis in a Guangxi population. | Yang B et al. | β | 2024 | β |
| A whole-exome sequencing study of patent foramen ovale: investigating genetic variants and their association with cardiovascular disorders. | Li X et al. | β | 2024 | β |
| Best practices for germline variant and DNA methylation analysis of second- and third-generation sequencing data. | Bonfiglio F et al. | β | 2024 | β |
| Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa. | Iglesias-Romero AB et al. | β | 2024 | β |
| Biallelic variants in Plexin B2 (<i>PLXNB2</i>) cause amelogenesis imperfecta, hearing loss and intellectual disability. | Smith CEL et al. | β | 2024 | β |
| Biallelic variants in RBM42 cause a multisystem disorder with neurological, facial, cardiac, and musculoskeletal involvement. | Chen Y et al. | β | 2024 | β |
| Case Report: Identification of a novel <i>PRR12</i> variant in a Chinese boy with developmental delay and short stature. | Liu Z et al. | β | 2024 | β |
| Catecholaminergic polymorphic ventricular tachycardia (and seizure) caused by a novel homozygous likely pathogenic variant in CASQ2 gene. | Askarinejad A et al. | β | 2024 | β |
| CDH1 Genotype Exploration in Women With Hereditary Lobular Breast Cancer Phenotype. | Corso G et al. | β | 2024 | β |
| CDMPred: a tool for predicting cancer driver missense mutations with high-quality passenger mutations. | Wang L et al. | β | 2024 | β |
| Characterization of a novel TFG variant causing autosomal recessive pure hereditary spastic paraplegia. | Hsiao CT et al. | β | 2024 | β |
| Characterization of CYP2B6 and CYP2A6 Pharmacogenetic Variation in Sub-Saharan African Populations. | Twesigomwe D et al. | β | 2024 | β |
| Classic and Atypical Late Infantile Neuronal Ceroid Lipofuscinosis in Latin America: Clinical and Genetic Aspects, and Treatment Outcome with Cerliponase Alfa. | Guelbert N et al. | β | 2024 | β |
| Clinical features and CPS1 variants in Chinese patients with carbamoyl phosphate synthetase 1 deficiency. | Dong H et al. | β | 2024 | β |
| Clinical Presentation and Molecular Characterization of 3 Patients with Vici Syndrome: Two Novel Variants in the <i>EPG5</i> Gene. | SelamioΔlu A et al. | β | 2024 | β |
| Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration. | Sangermano R et al. | β | 2024 | β |
| Comparative analysis of the mutational landscape and evolutionary patterns of pancreatic ductal adenocarcinoma metastases in the liver or peritoneum. | Yao G et al. | β | 2024 | β |
| Comprehensive functional characterization of complement factor I rare variant genotypes identified in the SCOPE geographic atrophy cohort. | Hallam TM et al. | β | 2024 | β |
| Computational Exploration of Single-Nucleotide Polymorphisms in the Human hRAS Gene: Implications and Insights. | Dakshitha S et al. | β | 2024 | β |
| Conservation genomic investigation of an endangered conifer, <i>Thuja sutchuenensis</i>, reveals low genetic diversity but also low genetic load. | Tao T et al. | β | 2024 | β |
| Current genetic defects in common variable immunodeficiency patients on the geography between Europe and Asia: a single-center experience. | Aygun A et al. | β | 2024 | β |
| CytoSIP: an annotated structural atlas for interactions involving cytokines or cytokine receptors. | Wang L et al. | β | 2024 | β |
| Deciphering the genetics and mechanisms of predisposition to multiple myeloma. | Went M et al. | β | 2024 | β |
| Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development. | Ceroni F et al. | β | 2024 | β |
| De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features. | Pan X et al. | β | 2024 | β |
| Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design. | Tolonen JP et al. | β | 2024 | β |
| Detailed Clinical Features of <i>PTPRQ</i>-Associated Hearing Loss Identified in a Large Japanese Hearing Loss Cohort. | Sakuma N et al. | β | 2024 | β |
| Detection of autism spectrum disorder-related pathogenic trio variants by a novel structure-based approach. | Rao S et al. | β | 2024 | β |
| Disruption of a DNA G-quadruplex causes a gain-of-function <i>SCL45A1</i> variant relevant to developmental disorders. | Chen Y et al. | β | 2024 | β |
| Dissecting genetic architecture of rare dystonia: genetic, molecular and clinical insights. | Atasu B et al. | β | 2024 | β |
| Dissection of the <i>E8</i> locus in two early maturing Canadian soybean populations. | GΓ©linas BΓ©langer J et al. | β | 2024 | β |
| DMD mutations in pediatric patients with phenotypes of Duchenne/Becker muscular dystrophy. | Ge L et al. | β | 2024 | β |
| DVA: predicting the functional impact of single nucleotide missense variants. | Wang D et al. | β | 2024 | β |
| Enhancing Familial Hypercholesterolemia Detection in South Korea: A Targeted Screening Approach Integrating National Program and Genetic Cascade Screening. | Yang JH et al. | β | 2024 | β |
| Enhancing missense variant pathogenicity prediction with protein language models using VariPred. | Lin W et al. | β | 2024 | β |
| Evaluation of the Copy Number Variants and Single-Nucleotide Polymorphisms of <i>ABCA3</i> in Newborns with Respiratory Distress Syndrome-A Pilot Study. | Anciuc-Crauciuc M et al. | β | 2024 | β |
| Evolutionary and functional analyses of LRP5 in archaic and extant modern humans. | Roca-Ayats N et al. | β | 2024 | β |
| Exome Sequencing of a Blastomycosis Case-Control Cohort From Manitoba and Northwestern Ontario, Canada. | Jankowski P et al. | β | 2024 | β |
| Exome sequencing reveals neurodevelopmental genes in simplex consanguineous Iranian families with syndromic autism. | Ghasemi MR et al. | β | 2024 | β |
| Experience with carnitine palmitoyltransferase II deficiency: diagnostic challenges in the myopathic form. | YazΔ±cΔ± H et al. | β | 2024 | β |
| Explicable prioritization of genetic variants by integration of rule-based and machine learning algorithms for diagnosis of rare Mendelian disorders. | Kim HH et al. | β | 2024 | β |
| Familial Exudative Vitreoretinopathy With and Without Pathogenic Variants of Norrin/Ξ²-Catenin Signaling Genes. | Kondo H et al. | β | 2024 | β |
| First family with Perry syndrome from Mexico. | Flores-Lagunes L et al. | β | 2024 | β |
| First Report of Polymorphisms and Genetic Characteristics of <i>Prion-like</i> Protein Gene (<i>PRND</i>) in Cats. | Jeong MJ et al. | β | 2024 | β |
| Four Unique Genetic Variants in Three Genes Account for 62.7% of Early-Onset Severe Retinal Dystrophy in Chile: Diagnostic and Therapeutic Consequences. | Moya R et al. | β | 2024 | β |
| Functional analysis of ESRP1/2 gene variants and CTNND1 isoforms in orofacial cleft pathogenesis. | Caetano da Silva C et al. | β | 2024 | β |
| Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish. | Derrick CJ et al. | β | 2024 | β |
| Functional characterization of missense variants affecting the extracellular domains of ABCA1 using a fluorescence-based assay. | Teigen M et al. | β | 2024 | β |
| Genetic analysis of PALB2 gene WD40 domain in canine mammary tumour patients. | ΓΔ±ldΔ±r ΓΕ et al. | β | 2024 | β |
| Genetic and epigenetic signatures for improved breeding of cultivated blueberry. | Wang Z et al. | β | 2024 | β |
| Genetic and pathophysiological insights from autopsied patient with primary familial brain calcification: novel MYORG variants and astrocytic implications. | Hobara T et al. | β | 2024 | β |
| Genetic architecture of hippocampus subfields volumes in Alzheimer's disease. | Cai J et al. | β | 2024 | β |
| Genetic determinants of global developmental delay and intellectual disability in Ukrainian children. | Shchubelka K et al. | β | 2024 | β |
| Genetic Factors and Long-term Treatment-Related Neurocognitive Deficits, Anxiety, and Depression in Childhood Leukemia Survivors: An Exome-Wide Association Study. | Petrykey K et al. | β | 2024 | β |
| Genome Sequencing of Idiopathic Speech Delay. | Eising E et al. | β | 2024 | β |
| Genome-wide association analyses identify distinct genetic architectures for age-related macular degeneration across ancestries. | Gorman BR et al. | β | 2024 | β |
| Genomic characteristics and evolution of Multicentric Esophageal and gastric Cardiac Cancer. | Liu X et al. | β | 2024 | β |
| Genotype-phenotype association and functional analysis of <i>hnRNPA1</i> mutations in amyotrophic lateral sclerosis. | Zhang X et al. | β | 2024 | β |
| Genotype-Phenotype Correlations in 30 Japanese Patients With Congenital Hypothyroidism Attributable to TG Defects. | Tanase-Nakao K et al. | β | 2024 | β |
| Genotypic and phenotypic diversity in X-linked retinoschisis: Findings from a South Indian patient cohort. | Chowdhury S et al. | β | 2024 | β |
| Germline DNA Damage Repair Gene Alterations in Patients with Metachronous Breast and Colorectal Cancer. | Villacis RAR et al. | β | 2024 | β |
| Global prevalence of hereditary thrombotic thrombocytopenic purpura determined by genetic analysis. | Seidizadeh O et al. | β | 2024 | β |
| G protein-coupled receptor (GPCR) pharmacogenomics. | Thompson MD et al. | β | 2024 | β |
| Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies. | Brooks D et al. | β | 2024 | β |
| <i>ABCA4</i>-related retinopathies in Lebanon. | Ibrahim M et al. | β | 2024 | β |
| Identification and validation of supervariants reveal novel loci associated with human white matter microstructure. | Wang S et al. | β | 2024 | β |
| Identification of novel ABCB4 variants and genotype-phenotype correlation in progressive familial intrahepatic cholestasis type 3. | Wang S et al. | β | 2024 | β |
| Impact of genetic test interpretation on a <i>VPS13B</i> missense variant in Cohen syndrome. | Schottmann G et al. | β | 2024 | β |
| Impact of inter-species hybridisation on antifungal drug response in the Saccharomyces genus. | Visinoni F et al. | β | 2024 | β |
| In Silico Analysis of Functional SNPs in Genes of Complete Androgen Insensitivity Syndrome (CAIS): A Retrospective, Case-Control Study. | Ramgir SS et al. | β | 2024 | β |
| Integrated eQTL mapping approach reveals genomic regions regulating candidate genes of the <i>E8-r3</i> locus in soybean. | GΓ©linas BΓ©langer J et al. | β | 2024 | β |
| Integration of variant annotations using deep set networks boosts rare variant association testing. | Clarke B et al. | β | 2024 | β |
| Integrative genomic analyses combined with molecular dynamics simulations reveal the impact of deleterious mutations of Bcl-2 gene on the apoptotic machinery and implications in carcinogenesis. | Elamin G et al. | β | 2024 | β |
| Investigating the Influence of <i>ANTXR2</i> Gene Mutations on Protective Antigen Binding for Heightened Anthrax Resistance. | Archana CA et al. | β | 2024 | β |
| Investigation of mutation spectrum amongst patients with familial primary cardiomyopathy using targeted NGS in Indian population. | Krishnaswamy SM et al. | β | 2024 | β |
| Investigation of Recessive Effects of Coding Variants on Common Clinical Phenotypes in Exome-Sequenced UK Biobank Participants. | Curtis D | β | 2024 | β |
| <i>PKD1L1</i> Is Involved in Congenital Chylothorax. | Whitchurch JB et al. | β | 2024 | β |
| <i>TNFRSF1B</i> Gene Variants in Clinicopathological Aspects and Prognosis of Patients with Cutaneous Melanoma. | Carvalho BF et al. | β | 2024 | β |
| m7GHub V2.0: an updated database for decoding the N7-methylguanosine (m7G) epitranscriptome. | Wang X et al. | β | 2024 | β |
| Machine Learning of Three-Dimensional Protein Structures to Predict the Functional Impacts of Genome Variation. | Shukla K et al. | β | 2024 | β |
| Maternal Age at Menarche Genes Determines Fetal Growth Restriction Risk. | Reshetnikov E et al. | β | 2024 | β |
| Mechanistic Insights into the Inhibition of a Common CTLA-4 Gene Mutation in the Cytoplasmic Domain. | Xu J et al. | β | 2024 | β |
| Metabolic stress in space: ROS-induced mutations in mice hint at a new path to cancer. | Stolc V et al. | β | 2024 | β |
| MetalPrognosis: A Biological Language Model-Based Approach for Disease-Associated Mutations in Metal-Binding Site Prediction. | Jia R et al. | β | 2024 | β |
| Molecular and Functional Assessment of <i>TSC1</i> and <i>TSC2</i> in Individuals with Tuberous Sclerosis Complex. | Dufner-Almeida LG et al. | β | 2024 | β |
| Molecular complexity of diffuse large B-cell lymphoma: a molecular perspective and therapeutic implications. | Almasmoum HA | β | 2024 | β |
| Mono- and Biallelic Replication-Coupled Gene Editing Discriminates Dominant-Negative and Loss-of-Function Variants of DNA Mismatch Repair Genes. | van Ravesteyn TW et al. | β | 2024 | β |
| Multiple Acyl-CoA Dehydrogenase Deficiency: Phenotypic and Genetic Features of a Malaysian Cohort. | Schee JP et al. | β | 2024 | β |
| Mutations in COL6A Gene Family Responsible for Muscular Dystrophies in Three Unrelated Families. | Soltani N et al. | β | 2024 | β |
| Newly discovered variants in unexplained neonatal encephalopathy. | Zhang R et al. | β | 2024 | β |
| No Emergence of Colistin Resistance in the Respiratory Tract of Lung Transplant Patients Treated With Inhaled Colistin. | Grall N et al. | β | 2024 | β |
| Novel genomic variants influencing methotrexate delayed clearance in pediatric patients with acute lymphoblastic leukemia. | Choi JY et al. | β | 2024 | β |
| Pathogenic single nucleotide polymorphisms in RhoA gene: Insights into structural and functional impacts on RhoA-PLD1 interaction through molecular dynamics simulation. | Hasan M et al. | β | 2024 | β |
| PdmIRD: missense variants pathogenicity prediction for inherited retinal diseases in a disease-specific manner. | Zeng B et al. | β | 2024 | β |
| Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing. | Wu R et al. | β | 2024 | β |
| Polymorphism rs143384 GDF5 reduces the risk of knee osteoarthritis development in obese individuals and increases the disease risk in non-obese population. | Novakov V et al. | β | 2024 | β |
| Population genetic admixture and evolutionary history in the Shandong Peninsula inferred from integrative modern and ancient genomic resources. | Su H et al. | β | 2024 | β |
| Prediction of adverse drug reactions due to genetic predisposition using deep neural networks. | Dafniet B et al. | β | 2024 | β |
| Prediction of cancer driver genes and mutations: the potential of integrative computational frameworks. | Nourbakhsh M et al. | β | 2024 | β |
| Prediction of Deleterious Single Amino Acid Polymorphisms with a Consensus Holdout Sampler. | Γlvarez-Machancoses Γ et al. | β | 2024 | β |
| Predisposing deleterious variants in the cancer-associated human kinases in the global populations. | Khan SA et al. | β | 2024 | β |
| Primary immune regulatory disorders (PIRD): expanding the mutation spectrum in Turkey and identification of sixteen novel variants. | Aykut A et al. | β | 2024 | β |
| Primate Model Carrying LMNA Mutation Develops Dilated Cardiomyopathy. | Luo X et al. | β | 2024 | β |
| Rapid discrimination between deleterious and benign missense mutations in the CAGI 6 experiment. | Faraggi E et al. | β | 2024 | β |
| Rare heterozygous variants in paediatric steroid resistant nephrotic syndrome - a population-based analysis of their significance. | Platt CJ et al. | β | 2024 | β |
| Recessive variants in MYO1C as a potential novel cause of proteinuric kidney disease. | Elmubarak I et al. | β | 2024 | β |
| Refined preferences of prioritizers improve intelligent diagnosis for Mendelian diseases. | Yuan X et al. | β | 2024 | β |
| Regulation of MYC by CARD14 in human epithelium is a determinant of epidermal homeostasis and disease. | DeVore SB et al. | β | 2024 | β |
| Representation of genomic intratumor heterogeneity in multi-region non-small cell lung cancer patient-derived xenograft models. | Hynds RE et al. | β | 2024 | β |
| SARS-CoV-2-induced phosphorylation and its pharmacotherapy backed by artificial intelligence and machine learning. | Qamar F et al. | β | 2024 | β |
| Sex-Hormone-Binding Globulin Gene Polymorphisms and Breast Cancer Risk in Caucasian Women of Russia. | Ponomarenko I et al. | β | 2024 | β |
| Single-cell RNA sequencing in donor and end-stage heart failure patients identifies NLRP3 as a therapeutic target for arrhythmogenic right ventricular cardiomyopathy. | Fu M et al. | β | 2024 | β |
| Single-mitochondrion sequencing uncovers distinct mutational patterns and heteroplasmy landscape in mouse astrocytes and neurons. | Kadam PS et al. | β | 2024 | β |
| Singleton mutations in large-scale cancer genome studies: uncovering the tail of cancer genome. | Desai S et al. | β | 2024 | β |
| Sirenian genomes illuminate the evolution of fully aquatic species within the mammalian superorder afrotheria. | Tian R et al. | β | 2024 | β |
| SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation. | Nashabat M et al. | β | 2024 | β |
| Somatic RAP1B gain-of-function variant underlies isolated thrombocytopenia and immunodeficiency. | Benavides-Nieto M et al. | β | 2024 | β |
| Structural and functional characterization of an individual with the M285R <i>KCNV2</i> hypomorphic allele. | de Guimaraes TAC et al. | β | 2024 | β |
| Talin-1 variants associated with spontaneous coronary artery dissection (SCAD) highlight how even subtle changes in multi-functional scaffold proteins can manifest in disease. | Azizi L et al. | β | 2024 | β |
| The genetic landscape of mitochondrial diseases in the next-generation sequencing era: a Portuguese cohort study. | Nogueira C et al. | β | 2024 | β |
| The identification of AMZ2 as a candidate causative gene in a severe teratozoospermia patient characterized by vacuolated spermatozoa. | Liu L et al. | β | 2024 | β |
| The MMACHC variant c.158T>C: Mild clinical and biochemical phenotypes and marked hydroxocobalamin response in cblC patients. | Demaret T et al. | β | 2024 | β |
| The performance of AlphaMissense to identify genes influencing disease. | Chen Y et al. | β | 2024 | β |
| The potential role of next-generation sequencing in identifying <i>MET</i> amplification and disclosing resistance mechanisms in NSCLC patients with osimertinib resistance. | Xiao X et al. | β | 2024 | β |
| The Putative Role of <i>TIM-3</i> Variants in Polyendocrine Autoimmunity: Insights from a WES Investigation. | Ariolli A et al. | β | 2024 | β |
| Tissue-aware interpretation of genetic variants advances the etiology of rare diseases. | Argov CM et al. | β | 2024 | β |
| Unlocking the Door for Precision Medicine in Rare Conditions: Structural and Functional Consequences of Missense <i>ACVR1</i> Variants. | Nagar G et al. | β | 2024 | β |
| Unravelling the Genetic Landscape of Hemiplegic Migraine: Exploring Innovative Strategies and Emerging Approaches. | Alfayyadh MM et al. | β | 2024 | β |
| Variant Impact Predictor database (VIPdb), version 2: trends from three decades of genetic variant impact predictors. | Lin YJ et al. | β | 2024 | β |
| Weighted burden analysis of rare coding variants in 470,000 exome-sequenced UK Biobank participants characterises effects on hyperlipidaemia risk. | Curtis D | β | 2024 | β |
| WGCCRR: a web-based tool for genome-wide screening of convergent indels and substitutions of amino acids. | Dong Z et al. | β | 2024 | β |
| Whole-Exome Sequencing Analysis of Idiopathic Hypogonadotropic Hypogonadism: Comparison of Varicocele and Nonobstructive Azoospermia. | Ma Z et al. | β | 2024 | β |
| Whole-exome sequencing identifies cancer-associated variants of the endo-lysosomal ion transport channels in the Saudi population. | Binobaid L et al. | β | 2024 | β |
| Whole-genome sequencing identifies variants in ANK1, LRRN1, HAS1, and other genes and regulatory regions for stroke in type 1 diabetes. | Antikainen AA et al. | β | 2024 | β |
| WormBase 2024: status and transitioning to Alliance infrastructure. | Sternberg PW et al. | β | 2024 | β |
| Yield of genetic association signals from genomes, exomes and imputation in the UK Biobank. | Gaynor SM et al. | β | 2024 | β |
| A Case of Congenital Hypotonia and Developmental Delay in an Individual with a <i>De Novo</i> Variant Outside of the Canonical HX-Motif of ATN1. | Makarova E et al. | β | 2023 | β |
| A Comprehensive Bioinformatics Resource Guide for Genome-Based Antimicrobial Resistance Studies. | Samantray D et al. | β | 2023 | β |
| A comprehensive map of human glucokinase variant activity. | Gersing S et al. | β | 2023 | β |
| Actionability classification of variants of unknown significance correlates with functional effect. | Johnson A et al. | β | 2023 | β |
| A frameshift variant in the <i>SIRPB1</i> gene confers susceptibility to Crohn's disease in a Chinese population. | Tang J et al. | β | 2023 | β |
| A large meta-analysis identifies genes associated with anterior uveitis. | Gelfman S et al. | β | 2023 | β |
| Analysis of 1276 Haplotype-Resolved Genomes Allows Characterization of Cis- and Trans-Abundant Genes. | Hoehe MR et al. | β | 2023 | β |
| Analysis of Rare Variants in 470,000 Exome-Sequenced UK Biobank Participants Implicates Novel Genes Affecting Risk of Hypertension. | Curtis D | β | 2023 | β |
| A Novel c.3636-4 A>G Mutation in the CCDC88C Plays a Causative Role in Familial Spinocerebellar Ataxia. | Chai S et al. | β | 2023 | β |
| A Novel Heterozygous Missense Variant in <i>Parathyroid Hormone 1</i> is Related to the Occurrence of Developmental Dysplasia of the Hip. | Yang D et al. | β | 2023 | β |
| A novel mutation in PCD-associated gene DNAAF3 causes male infertility due to asthenozoospermia. | Wan F et al. | β | 2023 | β |
| A novel mutation in the KCNJ11 gene (p.Val36Glu), predisposes to congenital hyperinsulinemia. | Shah IA et al. | β | 2023 | β |
| A novel smoothed (SMO) point mutation in congenital tibial hemimelia: a case report. | Yang X et al. | β | 2023 | β |
| A Pathogenic Variant Reclassified to the Pseudogene <i>PMS2P1</i> in a Patient with Suspected Hereditary Cancer. | Fragoso-Ontiveros V et al. | β | 2023 | β |
| A robust yeast biocontainment system with two-layered regulation switch dependent on unnatural amino acid. | Chang T et al. | β | 2023 | β |
| Assessing the relationship between the in silico predicted consequences of 97 missense mutations mapping to 68 genes related to lipid metabolism and their association with porcine fatness traits. | GonzΓ‘lez-Prendes R et al. | β | 2023 | β |
| A TP63 mutation identified in a Han Chinese family with ectodermal dysplasia. | Zhou X et al. | β | 2023 | β |
| Augmenting tomato functional genomics with a genome-wide induced genetic variation resource. | Gupta P et al. | β | 2023 | β |
| Autoimmunity and immunodeficiency associated with monoallelic LIG4 mutations via haploinsufficiency. | Jauch AJ et al. | β | 2023 | β |
| Basic Research Protocol: Exome Sequencing in Adults With Loin Pain Hematuria Syndrome: A Pilot Study. | Sharma A et al. | β | 2023 | β |
| Bi-allelic human TEKT3 mutations cause male infertility with oligoasthenoteratozoospermia owing to acrosomal hypoplasia and reduced progressive motility. | Liu Y et al. | β | 2023 | β |
| Biallelic <i>NPR1</i> loss of function variants are responsible for neonatal systemic hypertension. | Capri Y et al. | β | 2023 | β |
| Biallelic mutations in <i>CFAP54</i> cause male infertility with severe MMAF and NOA. | Tian S et al. | β | 2023 | β |
| Biallelic structural variations within <i>FGF12</i> detected by long-read sequencing in epilepsy. | Ohori S et al. | β | 2023 | β |
| Bioinformatic analysis of KIT juxtamembrane domain mutations in Syrian GIST patients: jigsaw puzzle completed. | Pharaon N et al. | β | 2023 | β |
| Cardiomyopathy related desmocollin-2 prodomain variants affect the intracellular cadherin transport and processing. | Pohl GM et al. | β | 2023 | β |
| CFAP70 is a solid and valuable target for the genetic diagnosis of oligo-astheno-teratozoospermia in infertile men. | Jin HJ et al. | β | 2023 | β |
| Characterization of CYP2D6 Pharmacogenetic Variation in Sub-Saharan African Populations. | Twesigomwe D et al. | β | 2023 | β |
| Characterization of <i>CYP2C19</i> pharmacogenetic variation in African populations and comparison with other global populations. | Booyse RP et al. | β | 2023 | β |
| CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct. | Roux I et al. | β | 2023 | β |
| Choosing Variant Interpretation Tools for Clinical Applications: Context Matters. | Aguirre J et al. | β | 2023 | β |
| Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia. | Kesim Y et al. | β | 2023 | β |
| Clinical and molecular characterization in a cohort of patients with progressive pseudorheumatoid dysplasia. | El Dessouki D et al. | β | 2023 | β |
| Clinical and molecular features of 40 Chinese patients with idiopathic hypogonadotropic hypogonadism. | Wang Y et al. | β | 2023 | β |
| CLPP inhibition triggers apoptosis in human ovarian granulosa cells <i>via</i> COX5A abnormality-Mediated mitochondrial dysfunction. | Yuan X et al. | β | 2023 | β |
| Cohesin maintains replication timing to suppress DNA damage on cancer genes. | Wu J et al. | β | 2023 | β |
| Comparison of the clinical and genetic features of autosomal dominant optic atrophy and normal tension glaucoma in young Chinese adults. | Zhang Y et al. | β | 2023 | β |
| Comparison of two multi-trait association testing methods and sequence-based fine mapping of six additive QTL in Swiss Large White pigs. | NoskovΓ‘ A et al. | β | 2023 | β |
| Computational and mitochondrial functional studies of novel compound heterozygous variants in SPATA5 gene support a causal link with epileptogenic encephalopathy. | Raggio V et al. | β | 2023 | β |
| Computational Methods Summarizing Mutational Patterns in Cancer: Promise and Limitations for Clinical Applications. | Patterson A et al. | β | 2023 | β |
| Computational screening and analysis of deleterious nsSNPs in human <i>p</i>14ARF (<i>CDKN2A</i> gene) protein using molecular dynamic simulation approach. | Ahmad SU et al. | β | 2023 | β |
| Construction and evaluation of the functional polygenic risk score for gastric cancer in a prospective cohort of the European population. | Gu Y et al. | β | 2023 | β |
| Contribution of LRP1 in Human Congenital Heart Disease Correlates with Its Roles in the Outflow Tract and Atrioventricular Cushion Development. | Arrigo AB et al. | β | 2023 | β |
| Converging evidence from exome sequencing and common variants implicates target genes for osteoporosis. | Zhou S et al. | β | 2023 | β |
| Co-Occurrence of Germline Genomic Variants and Copy Number Variations in Hereditary Breast and Colorectal Cancer Patients. | CΓ΄rtes L et al. | β | 2023 | β |
| Deep generative models of LDLR protein structure to predict variant pathogenicity. | James JK et al. | β | 2023 | β |
| Deficiency of primate-specific SSX1 induced asthenoteratozoospermia in infertile men and cynomolgus monkey and tree shrew models. | Liu C et al. | β | 2023 | β |
| Deleterious and ethnic-related BRCA1/2 mutations in tissue and blood of Egyptian colorectal cancer patients and its correlation with humanΒ papillomavirus. | Youssef ASE et al. | β | 2023 | β |
| Deleterious mutations predicted in the sorghum (Sorghum bicolor) Maturity (Ma) and Dwarf (Dw) genes from whole-genome resequencing. | Grant NP et al. | β | 2023 | β |
| Deleterious Variation in Natural Populations and Implications for Conservation Genetics. | Robinson J et al. | β | 2023 | β |
| Delineating the Spectrum of Genetic Variants Associated with Bardet-Biedl Syndrome in Consanguineous Pakistani Pedigrees. | Rao AR et al. | β | 2023 | β |
| Demyelinating Peripheral Neuropathy Caused by the p.R160H Mutation in the <i>LITAF</i> Gene. | Peddareddygari LR et al. | β | 2023 | β |
| De novo mutation hotspots in homologous protein domains identify function-altering mutations in neurodevelopmental disorders. | Wiel L et al. | β | 2023 | β |
| Dermokine mutations contribute to epithelial-mesenchymal transition and advanced melanoma through ERK/MAPK pathways. | Ma W et al. | β | 2023 | β |
| Design of a low-density SNP panel for intramuscular fat content and fatty acid composition of backfat in free-range Iberian pigs. | Palma-Granados P et al. | β | 2023 | β |
| Determination of genetic predisposition to early breast cancer in women of Kazakh ethnicity. | Zhunussova G et al. | β | 2023 | β |
| Discovering functionally important sites in proteins. | Cagiada M et al. | β | 2023 | β |
| E96V Mutation in the <i>Kdelr3</i> Gene Is Associated with Type 2 Diabetes Susceptibility in Obese NZO Mice. | Altenhofen D et al. | β | 2023 | β |
| Effects of the pathological E200K mutation on human prion protein: A computational screening and molecular dynamics approach. | Gharemirshamloo FR et al. | β | 2023 | β |
| Epigenomic charting and functional annotation of risk loci in renal cell carcinoma. | Nassar AH et al. | β | 2023 | β |
| Evaluation of Human-Induced Pluripotent Stem Cells Derived from a Patient with Schwartz-Jampel Syndrome Revealed Distinct Hyperexcitability in the Skeletal Muscles. | Yamashita Y et al. | β | 2023 | β |
| Evaluation of SNPs from human IGFBP6 associated with gene expression: an <i>in-silico</i> study. | Wanarase SR et al. | β | 2023 | β |
| Evolutionary Insights into the Relationship of Frogs, Salamanders, and Caecilians and Their Adaptive Traits, with an Emphasis on Salamander Regeneration and Longevity. | Lu B | β | 2023 | β |
| Exome sequencing in a Swedish family with PMS2 mutation with varying penetrance of colorectal cancer: investigating the presence of genetic risk modifiers in colorectal cancer risk. | Bryant P et al. | β | 2023 | β |
| Extensive set of African ancestry-informative markers (AIMs) to study ancestry and population health. | Boudeau S et al. | β | 2023 | β |
| Familial Whole Exome Sequencing Study of 30 Families With Early-Onset High Myopia. | Yang E et al. | β | 2023 | β |
| Filaggrin gene variants among Saudi patients with ichthyosis vulgaris. | Alakloby OM et al. | β | 2023 | β |
| From gene to dose: Long-read sequencing and *-allele tools to refine phenotype predictions of <i>CYP2C19</i>. | Graansma LJ et al. | β | 2023 | β |
| From high masked to high realized genetic load in inbred Scandinavian wolves. | Smeds L et al. | β | 2023 | β |
| Functional Characteristics of Diverse <i>PAX6</i> Mutations Associated with Isolated Foveal Hypoplasia. | Matsushita I et al. | β | 2023 | β |
| Functional Characterization of a Spectrum of Novel Romano-Ward Syndrome <i>KCNQ1</i> Variants. | RinnΓ© S et al. | β | 2023 | β |
| Functional mutation, splice, distribution, and divergence analysis of impactful genes associated with heart failure and other cardiovascular diseases. | Mhatre I et al. | β | 2023 | β |
| Genetic analysis of the equine orthologues for human CYP2D6: unraveling the complexity of the CYP2D family in horses. | Scantamburlo G et al. | β | 2023 | β |
| Genetic architecture of spatial electrical biomarkers for cardiac arrhythmia and relationship with cardiovascular disease. | Young WJ et al. | β | 2023 | β |
| Genetic background of idiopathic neurodevelopmental delay patients with significant brain deviation volume. | Chen X et al. | β | 2023 | β |
| Genetic, clinical, and pathological study of patients with severe hypertension-associated renal microangiopathy. | Chen X et al. | β | 2023 | β |
| Genetic interaction between GABRA1 and ERBB4 variants in the pathogenesis of genetic generalized epilepsy. | Chan CK et al. | β | 2023 | β |
| Genetic predisposition to porto-sinusoidal vascular disorder: A functional genomic-based, multigenerational family study. | Shan J et al. | β | 2023 | β |
| Genetic preservation of SLC22A3 in the Admixed and Xhosa populations living in the Western Cape. | Pearce B et al. | β | 2023 | β |
| Genetic variant annotation scores in congenital long QT syndrome. | Younis A et al. | β | 2023 | β |
| Genetic Variant Overlap Analysis Identifies Established and Putative Genes Involved in Pulmonary Fibrosis. | Groen K et al. | β | 2023 | β |
| Genetic variants of cancerβassociated genes analyzed using nextβgeneration sequencing in small sporadic vestibular schwannomas. | Fujita T et al. | β | 2023 | β |
| Genetic Variations in the Human Angiotensin-ConvertingEnzyme 2 and Susceptibility to Coronavirus Disease-19. | Talebi T et al. | β | 2023 | β |
| Genetic variations in the retrograde endocannabinoid signaling pathway in Chinese patients with major depressive disorder. | Xu H et al. | β | 2023 | β |
| Genomic adaptive potential to cold environments in the invasive red swamp crayfish. | Sato DX et al. | β | 2023 | β |
| Genomic architecture of autism spectrum disorder in Qatar: The BARAKA-Qatar Study. | Abdi M et al. | β | 2023 | β |
| Genomic characterization of an esthesioneuroblastoma with spinal metastases: illustrative case. | Marin BM et al. | β | 2023 | β |
| Genomic health is dependent on long-term population demographic history. | Wootton E et al. | β | 2023 | β |
| Genomic insights into the genetic basis of eagle-beak jaw, large head, and long tail in the big-headed turtle. | Gong S et al. | β | 2023 | β |
| Genomic profiling and pre-clinical modelling of breast cancer leptomeningeal metastasis reveals acquisition of a lobular-like phenotype. | Fitzpatrick A et al. | β | 2023 | β |
| Genomic study of <i>TEX15</i> variants: prevalence and allelic heterogeneity in men with spermatogenic failure. | Qureshi S et al. | β | 2023 | β |
| Genomic-transcriptomic evolution in lung cancer and metastasis. | MartΓnez-Ruiz C et al. | β | 2023 | β |
| Ghost admixture in eastern gorillas. | Pawar H et al. | β | 2023 | β |
| Global detection of human variants and isoforms by deep proteome sequencing. | Sinitcyn P et al. | β | 2023 | β |
| GNA11 Variants Identified in Patients with Hypercalcemia or Hypocalcemia. | Howles SA et al. | β | 2023 | β |
| Homozygous variants in <i>AKAP3</i> induce asthenoteratozoospermia and male infertility. | Liu C et al. | β | 2023 | β |
| Hypercholesterolemia in the Malaysian Cohort Participants: Genetic and Non-Genetic Risk Factors. | Abdul Murad NA et al. | β | 2023 | β |
| Hyper-Dependence on NHEJ Enables Synergy between DNA-PK Inhibitors and Low-Dose Doxorubicin in Leiomyosarcoma. | Marino-Enriquez A et al. | β | 2023 | β |
| Identification and in-silico characterization of splice-site variants from a large cardiogenetic national registry. | Rayani K et al. | β | 2023 | β |
| Identification genetic variations in some heat shock protein genes of Tali goat breed and study their structural and functional effects on relevant proteins. | Rezvannejad E et al. | β | 2023 | β |
| Identification of acquired Notch3 dependency in metastatic Head and Neck Cancer. | Kondratyev M et al. | β | 2023 | β |
| Identification of deleterious nsSNPs in human HGF gene: in silico approach. | Hoda A et al. | β | 2023 | β |
| Identification of EPX Variants in Human Eosinophilic Granulomatosis With Polyangiitis (Churg-Strauss). | David C et al. | β | 2023 | β |
| Identification of Missense Variants Affecting Carcass Traits for Hanwoo Precision Breeding. | Lee DJ et al. | β | 2023 | β |
| Identification of novel candidate genes associated with non-syndromic tooth agenesis in Mongolian families | Semjid D et al. | β | 2023 | β |
| Identification of novel candidate genes associated with non-syndromic tooth agenesis in Mongolian families. | Semjid D et al. | β | 2023 | β |
| Identification of prolactin receptor variants with diverse effects on receptor signalling. | Gorvin CM et al. | β | 2023 | β |
| Identification of the SIRT1 gene's most harmful non-synonymous SNPs and their effects on functional and structural features-an <i>in silico</i> analysis. | Thayyil Menambath D et al. | β | 2023 | β |
| Identifying rare genetic variants in 21 highly multiplex autism families: the role of diagnosis and autistic traits. | More RP et al. | β | 2023 | β |
| <i>GABRG2</i> Variants Associated with Febrile Seizures. | Hernandez CC et al. | β | 2023 | β |
| <i>GJB4</i> variants linked to skin disease exhibit a trafficking deficiency en route to gap junction formation that can be restored by co-expression of select connexins. | Lucaciu SA et al. | β | 2023 | β |
| Inherited mutations affecting the SRCAP complex are central in moderate-penetrance predisposition to uterine leiomyomas. | VΓ€limΓ€ki N et al. | β | 2023 | β |
| Insights from incorporating quantum computing into drug designΒ workflows. | Lau B et al. | β | 2023 | β |
| In silico assessment of missense point mutations on human cathelicidin LL-37. | Porto WF et al. | β | 2023 | β |
| Integration of deep learning with Ramachandran plot molecular dynamics simulation for genetic variant classification. | Tam B et al. | β | 2023 | β |
| Intergenic Interactions of <i>SBNO1</i>, <i>NFAT5</i> and <i>GLT8D1</i> Determine the Susceptibility to Knee Osteoarthritis among Europeans of Russia. | Novakov V et al. | β | 2023 | β |
| Investigation of pathogenic germline variants in gastric cancer and development of "GasCanBase" database. | Hossain MU et al. | β | 2023 | β |
| <i>POU6F2</i> mutation in humans with pubertal failure alters GnRH transcript expression. | Cho HJ et al. | β | 2023 | β |
| <i>PTCHD1</i> gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports. | Montanaro FAM et al. | β | 2023 | β |
| Lack of CFAP54 causes primary ciliary dyskinesia in a mouse model and human patients. | Zhao X et al. | β | 2023 | β |
| Landscape of germline pathogenic variants in patients with dual primary breast and lung cancer. | Lee NY et al. | β | 2023 | β |
| Leigh Syndrome Spectrum: A Portuguese Population Cohort in an Evolutionary Genetic Era. | Baldo MS et al. | β | 2023 | β |
| Loci on chromosome 12q13.2 encompassing ERBB3, PA2G4 and RAB5B are associated with polycystic ovary syndrome. | Alan Harris R et al. | β | 2023 | β |
| Lymphoma as an Exclusion Criteria for CVID Diagnosis Revisited. | Allain V et al. | β | 2023 | β |
| Lynch syndrome, molecular mechanisms and variant classification. | Abildgaard AB et al. | β | 2023 | β |
| m6A-TSHub: Unveiling the Context-specific m<sup>6</sup>A Methylation and m<sup>6</sup>A-affecting Mutations in 23 Human Tissues. | Song B et al. | β | 2023 | β |
| Machine learning with in silico analysis markedly improves survival prediction modeling in colon cancer patients. | Lee CJ et al. | β | 2023 | β |
| Maternal Age at Menarche Gene Polymorphisms Are Associated with Offspring Birth Weight. | Reshetnikova Y et al. | β | 2023 | β |
| Millennium-old pathogenic Mendelian mutation discovery for multiple osteochondromas from a Gaelic Medieval graveyard. | Jackson I et al. | β | 2023 | β |
| Minimal residual disease detection by mutation-specific droplet digital PCR for leukemia/lymphoma. | Shirai R et al. | β | 2023 | β |
| MmisAT and MmisP: an efficient and accurate suite of variant analysis toolkit for primary mitochondrial diseases. | Huang S et al. | β | 2023 | β |
| Molecular analysis and prenatal diagnosis of seven Chinese families with genetic epilepsy. | Mao B et al. | β | 2023 | β |
| Molecular characterization of novel and rare DNA variants in patients with galactosemia. | Maroulis V et al. | β | 2023 | β |
| Multi-omics analyses reveal spatial heterogeneity in primary and metastatic oesophageal squamous cell carcinoma. | Huang H et al. | β | 2023 | β |
| Mutation Analysis of KRAS and BRAF in Iranian Colorectal Cancer patients: A Novel Variant in Exon 15 of BRAF. | Hassani B et al. | β | 2023 | β |
| mvPPT: A Highly Efficient and Sensitive Pathogenicity Prediction Tool for Missense Variants. | Tong SY et al. | β | 2023 | β |
| New evidence of genetic heterogeneity causing hereditary gingival fibromatosis and ALK and CD36 as new candidate genes. | Machado RA et al. | β | 2023 | β |
| Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy. | Cafournet C et al. | β | 2023 | β |
| Novel <i>FERMT3</i> and <i>PTPRQ</i> Mutations Associated with Leukocyte Adhesion Deficiency-III and Sensorineural Hearing Loss. | Candelaria GTP et al. | β | 2023 | β |
| Novel IRF6 variant in orofacial cleft patients from Durban, South Africa. | Naicker T et al. | β | 2023 | β |
| Novel mutations in GJA1 in two Brazilian families with oculodentodigital dysplasia. | Machado RA et al. | β | 2023 | β |
| Novel mutations in the ABCD1 gene caused adrenomyeloneuropathy in the Chinese population. | He R et al. | β | 2023 | β |
| OUTER RETINAL TUBULATION IN BIETTI CRYSTALLINE DYSTROPHY ASSOCIATED WITH THE RETINAL PIGMENT EPITHELIUM ATROPHY. | Wang Y et al. | β | 2023 | β |
| Pan-cancer proteogenomics connects oncogenic drivers to functional states. | Li Y et al. | β | 2023 | β |
| PDGFRB and NOTCH3 Mutations are Detectable in a Wider Range of Pericytic Tumors, Including Myopericytomas, Angioleiomyomas, Glomus Tumors, and Their Combined Tumors. | Iwamura R et al. | β | 2023 | β |
| PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework. | Dingemans AJM et al. | β | 2023 | β |
| Phylogenetic analysis of promoter regions of human <i>Dolichol kinase</i> (DOLK) and orthologous genes using bioinformatics tools. | Farooqi N et al. | β | 2023 | β |
| Population-based prevalence and mutational landscape of von Willebrand disease using large-scale genetic databases. | Seidizadeh O et al. | β | 2023 | β |
| Population Genomics for Insect Conservation. | Webster MT et al. | β | 2023 | β |
| Predicted deleterious variants in the human genome relevant to gene therapy with adeno-associated virus vectors. | Rostami MR et al. | β | 2023 | β |
| Principles of metabolome conservation in animals. | Liska O et al. | β | 2023 | β |
| Pseudotyped Viruses for Phlebovirus. | Wu J et al. | β | 2023 | β |
| Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases. | Kim MJ et al. | β | 2023 | β |
| Rare variant analyses in large-scale cohorts identified SLC13A1 associated with chronic pain. | Ao X et al. | β | 2023 | β |
| Reasons and Resolutions for Inconsistent Variant Interpretation. | Lin L et al. | β | 2023 | β |
| Risk Effects of rs1799945 Polymorphism of the <i>HFE</i> Gene and Intergenic Interactions of GWAS-Significant Loci for Arterial Hypertension in the Caucasian Population of Central Russia. | Ivanova T et al. | β | 2023 | β |
| RMDisease V2.0: an updated database of genetic variants that affect RNA modifications with disease and trait implication. | Song B et al. | β | 2023 | β |
| SARS-CoV-2 infection activating a novel variant of the <i>NOTCH3</i> gene and subsequently causing development of CADASIL. | KrΓ³l ZJ et al. | β | 2023 | β |
| Selection-driven trait loss in independently evolved cavefish populations. | Moran RL et al. | β | 2023 | β |
| Sex-Specific Features of the Correlation between GWAS-Noticeable Polymorphisms and Hypertension in Europeans of Russia. | Ivanova T et al. | β | 2023 | β |
| Signal Transducer and Activator of Transcription 6 Changes and Protein Frustration by Single Amino Acid Substitutions: Implications for Cancer Progression. | Alharethi SH et al. | β | 2023 | β |
| Simultaneous Copy Number Alteration and Single-Nucleotide Variation Analysis in Matched Aqueous Humor and Tumor Samples in Children with Retinoblastoma. | Schmidt MJ et al. | β | 2023 | β |
| SNPeffect 5.0: large-scale structural phenotyping of protein coding variants extracted from next-generation sequencing data using AlphaFold models. | Janssen K et al. | β | 2023 | β |
| Somatic ARAF mutations in pediatric Langerhans cell histiocytosis: clinicopathologic, genetic and functional profiling. | Liu R et al. | β | 2023 | β |
| Somatic mutations in tumor and plasma of locoregional recurrent and/or metastatic head and neck cancer using a next-generation sequencing panel: A preliminary study. | Rapado-GonzΓ‘lez Γ et al. | β | 2023 | β |
| Strategies in Aggregation Tests for Rare Variants. | Rajabli F et al. | β | 2023 | β |
| Surveillance of cfDNA Hot Spot Mutations in NSCLC Patients during Disease Progression. | Sestokaite A et al. | β | 2023 | β |
| SUsPECT: a pipeline for variant effect prediction based on custom long-read transcriptomes for improved clinical variant annotation. | Salz R et al. | β | 2023 | β |
| Synthetic lethality prediction in DNA damage repair, chromatin remodeling and the cell cycle using multi-omics data from cell lines and patients. | Markowska M et al. | β | 2023 | β |
| Synthetic receptor platform to identify loss-of-function single nucleotide variants and designed mutants in the death receptor Fas/CD95. | Minafra AR et al. | β | 2023 | β |
| Systematic Assessment of Protein C-Termini Mutated in Human Disorders. | FitzHugh ZT et al. | β | 2023 | β |
| Targeted deep sequencing reveals the genetic heterogeneity in well-differentiated pancreatic neuroendocrine tumors with liver metastasis. | Zhou W et al. | β | 2023 | β |
| Targeted sequencing and inΒ vitro splice assays shed light on ABCA4-associated retinopathies missing heritability. | Corradi Z et al. | β | 2023 | β |
| The evolution of lung cancer and impact of subclonal selection in TRACERx. | Frankell AM et al. | β | 2023 | β |
| The first exome wide association study in Tunisia: identification of candidate loci and pathways with biological relevance for type 2 diabetes. | Dallali H et al. | β | 2023 | β |
| The fly homolog of SUPT16H, a gene associated with neurodevelopmental disorders, is required in a cell-autonomous fashion for cell survival. | Ma M et al. | β | 2023 | β |
| The genetics of autism spectrum disorder in an East African familial cohort. | Tuncay IO et al. | β | 2023 | β |
| The in-silico evaluation of important GLUT9 residue for uric acid transport based on renal hypouricemia type 2. | Cachau R et al. | β | 2023 | β |
| The Mutational Spectrum of Pre- and Post-Neoadjuvant Chemotherapy Triple-Negative Breast Cancers. | Aguilar-Mahecha A et al. | β | 2023 | β |
| The PER3<sup>rs772027021</sup> SNP induces pigmentation phenotypes of dyschromatosis universalis hereditaria. | Chen H et al. | β | 2023 | β |
| The Usher syndrome 1C protein harmonin regulates canonical Wnt signaling. | SchΓ€fer J et al. | β | 2023 | β |
| TP53 mutations predict poor response to immunotherapy in patients with metastatic solid tumors. | Kim JY et al. | β | 2023 | β |
| Two novel CD40LG gene mutations causing X-linked hyper IgM syndrome in Vietnamese patients. | Lien NTK et al. | β | 2023 | β |
| Two rare variants reveal the significance of Grainyhead-like 3 Arginine 391 underlying non-syndromic cleft palate only. | Huang W et al. | β | 2023 | β |
| Unified views on variant impact across many diseases. | Kumar S et al. | β | 2023 | β |
| Using Computational Simulations to Model Deleterious Variation and Genetic Load in Natural Populations. | Kyriazis CC et al. | β | 2023 | β |
| Variant Landscape of 15 Genes Involved in Corneal Dystrophies: Report of 30 Families and Comprehensive Analysis of the Literature. | Zhu D et al. | β | 2023 | β |
| Variants in the CETP gene affect levels of HDL cholesterol by reducing the amount, and not the specific lipid transfer activity, of secreted CETP. | Γlnes Γ S et al. | β | 2023 | β |
| VPatho: a deep learning-based two-stage approach for accurate prediction of gain-of-function and loss-of-function variants. | Ge F et al. | β | 2023 | β |
| Whole-exome sequencing identifies FANC heterozygous germline mutation as an adverse factor for immunosuppressive therapy in Chinese aplastic anemia patients aged 40 or younger: a single-center retrospective study. | Shen Y et al. | β | 2023 | β |
| Whole-exome sequencing in moyamoya patients of Northern-European origin identifies gene variants involved in Nitric Oxide metabolism: A pilot study. | Wiedmann MKH et al. | β | 2023 | β |
| Whole exome sequencing of patients with varicella-zoster virus and herpes simplex virus induced acute retinal necrosis reveals rare disease-associated genetic variants. | Heinz JL et al. | β | 2023 | β |
| Whole Exome Sequencing Reveals Novel Candidate Genes in Familial Forms of Glaucomatous Neurodegeneration. | Narta K et al. | β | 2023 | β |
| Whole Exome Sequencing Reveals Novel Variants in Unexplained Erythrocytosis. | Khurana H et al. | β | 2023 | β |
| Whole exome sequencing study identifies candidate loss of function variants and locus heterogeneity in familial cholesteatoma. | Cardenas R et al. | β | 2023 | β |
| Whole-exome sequencing study of hypospadias. | Chen Z et al. | β | 2023 | β |
| Whole-Genome Sequencing Data Reveal New Loci Affecting Milk Production in German Black Pied Cattle (DSN). | KorkuΔ P et al. | β | 2023 | β |
| Wide diagnostic and genotypic spectrum in patients with suspected mitochondrial disease. | GrigalionienΔ K et al. | β | 2023 | β |
| X-linked genes influence various complex traits in dairy cattle. | Sanchez MP et al. | β | 2023 | β |
| Aberrant hippocampal transmission and behavior in mice with a stargazin mutation linked to intellectual disability. | Caldeira GL et al. | β | 2022 | β |
| A comparison on predicting functional impact of genomic variants. | Wang D et al. | β | 2022 | β |
| A CTNNB1-altered medulloblastoma shows the immunophenotypic, DNA methylation and transcriptomic profiles of SHH-activated, and not WNT-activated, medulloblastoma. | Chiang J et al. | β | 2022 | β |
| Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel. | Kountouris P et al. | β | 2022 | β |
| African Suid Genomes Provide Insights into the Local Adaptation to Diverse African Environments. | Xie HB et al. | β | 2022 | β |
| A genetic model for central chondrosarcoma evolution correlates with patient outcome. | Cross W et al. | β | 2022 | β |
| A genome-first approach to rare variants in hypertrophic cardiomyopathy genes MYBPC3 and MYH7 in a medical biobank. | Park J et al. | β | 2022 | β |
| A Gly684Ala substitution in the androgen receptor is the cause for azoospermia in a Chinese family with mild androgen insensitivity syndrome and normal hormone levels. | Yuan Y et al. | β | 2022 | β |
| A heterozygous LAMA5 variant may contribute to slowly progressive, vinculin-enhanced familial FSGS and pulmonary defects. | Kaimori JY et al. | β | 2022 | β |
| A Hybrid Quantum Image-Matching Algorithm. | Shu G et al. | β | 2022 | β |
| AmazonForest: In Silico Metaprediction of Pathogenic Variants. | Palheta HGA et al. | β | 2022 | β |
| Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant. | Hamanaka K et al. | β | 2022 | β |
| A missense variant in <i>NCF1</i> is associated with susceptibility to unexplained recurrent spontaneous abortion. | Du M et al. | β | 2022 | β |
| Analysis of coding variants in the human FTO gene from the gnomAD database. | Souza Junior MLF et al. | β | 2022 | β |
| Analysis of CYP27A1 mutations in Han Chinese women with intrahepatic cholestasis of pregnancy. | Xin S et al. | β | 2022 | β |
| Analysis of Mutational Profile of Hypopharyngeal and Laryngeal Head and Neck Squamous Cell Carcinomas Identifies <i>KMT2C</i> as a Potential Tumor Suppressor. | Machnicki MM et al. | β | 2022 | β |
| Analysis of rare coding variants in 200,000 exome-sequenced subjects reveals novel genetic risk factors for type 2 diabetes. | Curtis D | β | 2022 | β |
| Analysis of SLC26A4, FOXI1, and KCNJ10 Gene Variants in Patients with Incomplete Partition of the Cochlea and Enlarged Vestibular Aqueduct (EVA) Anomalies | Klarov LA et al. | β | 2022 | β |
| Ancestry-driven recalibration of tumor mutational burden and disparate clinical outcomes in response to immune checkpoint inhibitors. | Nassar AH et al. | β | 2022 | β |
| Annotating and prioritizing genomic variants using the Ensembl Variant Effect Predictor-A tutorial. | Hunt SE et al. | β | 2022 | β |
| A novel frameshift mutation in <i>TRPV6</i> is associated with hereditary pancreatitis. | Shah IA et al. | β | 2022 | β |
| A novel missense mutation in GREB1L identified in a three-generation family with renal hypodysplasia/aplasia-3. | Wu S et al. | β | 2022 | β |
| A novel missense variant in the CASK gene causes intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia. | Wu S et al. | β | 2022 | β |
| A Novel Variant of ATP5MC3 Associated with Both Dystonia and Spastic Paraplegia. | Neilson DE et al. | β | 2022 | β |
| A rapid turnaround gene panel for severe autoinflammation: Genetic results within 48 hours. | McCreary D et al. | β | 2022 | β |
| A rare genetic variant in the cleavage site of prepro-orexin is associated with idiopathic hypersomnia. | Miyagawa T et al. | β | 2022 | β |
| Assessment of <i>POLE</i> and <i>POLD1</i> mutations as prognosis and immunotherapy biomarkers for stomach adenocarcinoma. | Zhu M et al. | β | 2022 | β |
| A Study of the Genomic Variations Associated with Autistic Spectrum Disorders in a Russian Cohort of Patients Using Whole-Exome Sequencing. | Gibitova EA et al. | β | 2022 | β |
| ASXL1 mutations predict inferior molecular response to nilotinib treatment in chronic myeloid leukemia. | SchΓΆnfeld L et al. | β | 2022 | β |
| Autosomal dominant optic atrophy caused by six novel pathogenic OPA1 variants and genotype-phenotype correlation analysis. | Han J et al. | β | 2022 | β |
| Autosomal Dominant Retinitis Pigmentosa-Associated TOPORS Protein Truncating Variants Are Exclusively Located in the Region of Amino Acid Residues 807 to 867. | Wang J et al. | β | 2022 | β |
| Autosomal dominant Shwachman-Diamond syndrome with a novel heterozygous missense variant in the SRP54 gene causing severe phenotypic features. | McCarthy P et al. | β | 2022 | β |
| Benign and Intermediate-grade Melanocytic Tumors With BRAF Mutations and Spitzoid Morphology: A Subset of Melanocytic Neoplasms Distinct From Melanoma. | Zhao J et al. | β | 2022 | β |
| Bilateral Nonsyndromic Sensorineural Hearing Loss Caused by a NARS2 Mutation. | Al-Sharif F et al. | β | 2022 | β |
| Broadening the phenotypic spectrum of TUBA1A tubulinopathy to syndromic arthrogryposis multiplex congenita. | Weber M et al. | β | 2022 | β |
| Burden tests can be used to map causal genes for a simple metabolic trait in an exome-sequenced polyploid mutant population. | Menard GN et al. | β | 2022 | β |
| Case Report: Family Curse: An <i>SCN5A</i> Mutation, c.611C>A, p.A204E Associated With a Family History of Dilated Cardiomyopathy and Arrhythmia. | Huang W et al. | β | 2022 | β |
| Case report: Functional characterization of a <i>de novo</i> c.145G>A p.Val49Met pathogenic variant in a case of PIGA-CDG with megacolon. | Salinas-MarΓn R et al. | β | 2022 | β |
| Case report: <i>KPTN</i> gene-related syndrome associated with a spectrum of neurodevelopmental anomalies including severe epilepsy. | Horn S et al. | β | 2022 | β |
| Case Report: Three novel pathogenic <i>ABCC2</i> mutations identified in two patients with Dubin-Johnson syndrome. | Zhao C et al. | β | 2022 | β |
| CDH1 germline mutations in a Chinese cohort with hereditary diffuse gastric cancer. | Pan Z et al. | β | 2022 | β |
| Challenges in quantifying genome erosion for conservation. | Bosse M et al. | β | 2022 | β |
| Channel HCN4 mutation R666Q associated with sporadic arrhythmia decreases channel electrophysiological function and increases protein degradation. | Wang H et al. | β | 2022 | β |
| Characterization of Arabian Peninsula whole exomes: Contributing to the catalogue of human diversity. | Ferreira JC et al. | β | 2022 | β |
| Characterization of <i>POR</i> haplotype distribution in African populations and comparison with other global populations. | Booyse RP et al. | β | 2022 | β |
| Circuit topology predicts pathogenicity of missense mutations. | Woodard J et al. | β | 2022 | β |
| Clinical and Genetic Analysis of RDH12-Associated Retinopathy in 27 Chinese Families: A Hypomorphic Allele Leads to Cone-Rod Dystrophy. | Wang J et al. | β | 2022 | β |
| Clinical and genetic characterization of a large cohort of patients with Wilson's disease in China. | Zhang S et al. | β | 2022 | β |
| Clinical, biological, radiological, and genetic study of LPAC syndrome in Tunisian patients. | Halleb Y et al. | β | 2022 | β |
| Clinical Characteristics and Pathogenic Gene Identification in Chinese Patients With Paget's Disease of Bone. | Tao X et al. | β | 2022 | β |
| Clinical description and genetic analysis of a novel familial skeletal dysplasia characterized by high bone mass and lucent bone lesions. | Ovejero D et al. | β | 2022 | β |
| Clinical features and genetic spectrum of NMNAT1-associated retinal degeneration. | Yi Z et al. | β | 2022 | β |
| Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants. | Barbosa P et al. | β | 2022 | β |
| Clonal Evolution in Patients with Hormone Receptor Positive, HER-2 Negative Breast Cancer Treated with Chemotherapy or CDK4/6 Inhibitors. | Decker T et al. | β | 2022 | β |
| Clonal haematopoiesis of indeterminate potential and cardiovascular events in systemic lupus erythematosus (HEMATOPLUS study). | David C et al. | β | 2022 | β |
| Cohort-based association study of germline genetic variants with acute and chronic health complications of childhood cancer and its treatment: Genetic Risks for Childhood Cancer Complications Switzerland (GECCOS) study protocol. | Waespe N et al. | β | 2022 | β |
| Common Genomic Aberrations in Mouse and Human Breast Cancers with Concurrent P53 Deficiency and Activated PTEN-PI3K-AKT Pathway. | Martinez JD et al. | β | 2022 | β |
| Comparative genomic analyses of multiple backcross mouse populations suggest SGCG as a novel potential obesity-modifier gene. | Kuhn T et al. | β | 2022 | β |
| Comparative Genomics Provides Etiologic and Biological Insight into Melanoma Subtypes. | Newell F et al. | β | 2022 | β |
| Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese. | Chau JFT et al. | β | 2022 | β |
| Comprehensive Study of Human FBXW7 Deleterious nsSNP's Functional Inference and Susceptibility to Gynaecological Cancer. | Vasuki KA et al. | β | 2022 | β |
| Computational Analysis of the Potential Impact of MTC Complex Missenses SNPs Associated with Male Infertility. | Harmak H et al. | β | 2022 | β |
| Computational design of a cutinase for plastic biodegradation by mining molecular dynamics simulations trajectories. | Li Q et al. | β | 2022 | β |
| Conservation genetics as a management tool: The five best-supported paradigms to assist the management of threatened species. | Willi Y et al. | β | 2022 | β |
| Contribution of common and rare genetic variants in CEP72 on vincristine-induced peripheral neuropathy in brain tumour patients. | Klumpers MJ et al. | β | 2022 | β |
| CRISPR Detection and Research on Screening Mutant Gene <i>TTN</i> of Moyamoya Disease Family Based on Whole Exome Sequencing. | Xiao Y et al. | β | 2022 | β |
| Deciphering Genetic Susceptibility to Tuberculous Meningitis. | Schurz H et al. | β | 2022 | β |
| Dendritic Spine in Autism Genetics: Whole-Exome Sequencing Identifying De Novo Variant of <i>CTTNBP2</i> in a Quad Family Affected by Autism Spectrum Disorder. | Xie Y et al. | β | 2022 | β |
| De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies. | Manivannan SN et al. | β | 2022 | β |
| De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders. | Jia X et al. | β | 2022 | β |
| Description of the molecular and phenotypic spectrum in Chinese patients with aggrecan deficiency: Novel <i>ACAN</i> heterozygous variants in eight Chinese children and a review of the literature. | Deng S et al. | β | 2022 | β |
| Design of a targeted next-generation DNA sequencing panel for pediatric T-cell lymphoblastic lymphoma to unravel biology and optimize treatment. | Ruether C et al. | β | 2022 | β |
| Detection of a novel <i>SETBP1</i> variant in a Chinese neonate with Schinzel-Giedion syndrome. | Yang H et al. | β | 2022 | β |
| Diagnostic yield of clinical exome sequencing as a first-tier genetic test for the diagnosis of genetic disorders in pediatric patients: results from a referral center study. | Mergnac JP et al. | β | 2022 | β |
| Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study. | Tropitzsch A et al. | β | 2022 | β |
| Diet X Gene Interactions Control Femoral Bone Adaptation to Low Dietary Calcium. | Chanpaisaeng K et al. | β | 2022 | β |
| Different Phenotypes Represent Advancing Stages of ABCA4-Associated Retinopathy: A Longitudinal Study of 212 Chinese Families From a Tertiary Center. | Wang Y et al. | β | 2022 | β |
| Digenic heterozygous mutations of KCNH2 and SCN5A induced young and early-onset long QT syndrome and sinoatrial node dysfunction. | Yang Z et al. | β | 2022 | β |
| Discovering single-cell eQTLs from scRNA-seq data only. | Ma T et al. | β | 2022 | β |
| Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates. | Szenker-Ravi E et al. | β | 2022 | β |
| Discrepancies of RET gene and risk of differentiated thyroid carcinoma. | Rashid FA et al. | β | 2022 | β |
| Disease relevance of rare VPS13B missense variants for neurodevelopmental Cohen syndrome. | Zorn M et al. | β | 2022 | β |
| Diverse monogenic subforms of human spermatogenic failure. | Nagirnaja L et al. | β | 2022 | β |
| Diverse mutations and structural variations contribute to Notch signaling deregulation in paediatric T-cell lymphoblastic lymphoma. | SalmerΓ³n-Villalobos J et al. | β | 2022 | β |
| Domestication reprogrammed the budding yeast life cycle. | De Chiara M et al. | β | 2022 | β |
| DVPred: a disease-specific prediction tool for variant pathogenicity classification for hearing loss. | Bu F et al. | β | 2022 | β |
| Dynamic insights into the effects of nonsynonymous polymorphisms (nsSNPs) on loss of TREM2 function. | Dash R et al. | β | 2022 | β |
| E2<sup>UbcH5B</sup>-derived peptide ligands target HECT E3-E2 binding site and block the Ub-dependent SARS-CoV-2 egression: A computational study. | Zahid S et al. | β | 2022 | β |
| Early-onset diabetes involving three consecutive generations had different clinical features from age-matched type 2 diabetes without a family history in China. | Wang DW et al. | β | 2022 | β |
| Ectodysplasin pathogenic variants affecting the furin-cleavage site and unusual clinical features define X-linked hypohidrotic ectodermal dysplasia in India. | Chaudhary AK et al. | β | 2022 | β |
| Effects of Pre-Pregnancy Overweight/Obesity on the Pattern of Association of Hypertension Susceptibility Genes with Preeclampsia. | Abramova M et al. | β | 2022 | β |
| Efficacy of low-dose hCG on FET cycle in patients with recurrent implantation failure. | Zhai X et al. | β | 2022 | β |
| Enamel defects in Acp4<sup>R110C/R110C</sup> mice and human ACP4 mutations. | Liang T et al. | β | 2022 | β |
| Eosinophilic Infiltration of the Sino-Atrial Node in Sudden Cardiac Death Caused by Long QT Syndrome. | Grassi S et al. | β | 2022 | β |
| Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases. | Yuan X et al. | β | 2022 | β |
| Evidence of Selection in the Ectodysplasin Pathway among Endangered Aquatic Mammals. | Font-Porterias N et al. | β | 2022 | β |
| Evolution of fluoroquinolone-resistant Escherichia coli in the gut after ciprofloxacin treatment. | de Lastours V et al. | β | 2022 | β |
| Exome sequencing analysis of Japanese autism spectrum disorder case-control sample supports an increased burden of synaptic function-related genes. | Kimura H et al. | β | 2022 | β |
| Exome Sequencing of a Portuguese Cohort of Frontotemporal Dementia Patients: Looking Into the ALS-FTD Continuum. | TΓ‘buas-Pereira M et al. | β | 2022 | β |
| Expanding the genetic spectrum for Chinese familial hypercholesterolemia population with six genetic mutations identified using a next-generation sequencing-based laboratory-developed screening test. | Jingxin S et al. | β | 2022 | β |
| Exploring the Structural and Functional Effects of Nonsynonymous SNPs in the Human Serotonin Transporter Gene Through <i>In Silico</i> Approaches. | Mia MA et al. | β | 2022 | β |
| Fine Mapping of a Major Backfat QTL Reveals a Causal Regulatory Variant Affecting the <i>CCND2</i> Gene. | Oliveira HC et al. | β | 2022 | β |
| Frequency of Pathogenic Germline Mutations in Early and Late Onset Familial Breast Cancer Patients Using Multi-Gene Panel Sequencing: An Egyptian Study. | Nassar A et al. | β | 2022 | β |
| Functional Analysis of Wild-Type and 27 CYP3A4 Variants on Dronedarone Metabolism <i>In vitro</i>. | Wang CC et al. | β | 2022 | β |
| Functional and clinical analysis of five <i>EDA</i> variants associated with ectodermal dysplasia but with a hard-to-predict significance. | GΓΆkdere S et al. | β | 2022 | β |
| Functional and Structural Impact of Deleterious Missense Single Nucleotide Polymorphisms in the NR3C1, CYP3A5, and TNF-Ξ± Genes: An In Silico Analysis. | Ramayanam NR et al. | β | 2022 | β |
| Functionally significant polymorphisms of the <i>MMP9</i> gene are associated with primary open-angle glaucoma in the population of Russia. | Ponomarenko I et al. | β | 2022 | β |
| Functional profiling of LDLR variants: Important evidence for variant classification: Functional profiling of LDLR variants. | GraΓ§a R et al. | β | 2022 | β |
| Further delineation of familial polycystic ovary syndrome (PCOS) via whole-exome sequencing: PCOS-related rare FBN3 and FN1 gene variants are identified. | Karakaya C et al. | β | 2022 | β |
| Gene Network of Susceptibility to Atypical Femoral Fractures Related to Bisphosphonate Treatment. | Garcia-Giralt N et al. | β | 2022 | β |
| Genetic Alterations, DNA Methylation, Alloantibodies and Phenotypic Heterogeneity in Type III von Willebrand Disease. | Naveed MA et al. | β | 2022 | β |
| Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways. | Young WJ et al. | β | 2022 | β |
| Genetic architecture of heart failure with preserved versus reduced ejection fraction. | Joseph J et al. | β | 2022 | β |
| Genetic architecture of tuberculosis susceptibility: A comprehensive research synopsis, meta-analyses, and epidemiological evidence. | Jiao L et al. | β | 2022 | β |
| Genetic Cancer Susceptibility in Adolescents and Adults 25Β Years or Younger With Colorectal Cancer. | Jongmans MCJ et al. | β | 2022 | β |
| Genetic determinants of lung cancer: Understanding the oncogenic potential of somatic missense mutations. | Dhakar R et al. | β | 2022 | β |
| Genetic evidence of tri-genealogy hypothesis on the origin of ethnic minorities in Yunnan. | Yang Z et al. | β | 2022 | β |
| Genetic Factors Causing Thyroid Dyshormonogenesis as the Major Etiologies for Primary Congenital Hypothyroidism: Clinical and Genetic Characterization of 33 Patients. | Liu R et al. | β | 2022 | β |
| Genetic factors contributing to late adverse musculoskeletal effects in childhood acute lymphoblastic leukemia survivors. | Shalmiev A et al. | β | 2022 | β |
| Genetic load: genomic estimates and applications in non-model animals. | Bertorelle G et al. | β | 2022 | β |
| Gene Variants Involved in Nonsense-Mediated mRNA Decay Suggest a Role in Autism Spectrum Disorder. | Marques AR et al. | β | 2022 | β |
| Genome interpretation using in silico predictors of variant impact. | Katsonis P et al. | β | 2022 | β |
| Genome Nexus: A Comprehensive Resource for the Annotation and Interpretation of Genomic Variants in Cancer. | de Bruijn I et al. | β | 2022 | β |
| Genome-wide association study of febrile seizures implicates fever response and neuronal excitability genes. | Skotte L et al. | β | 2022 | β |
| Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project. | Cong PK et al. | β | 2022 | β |
| Genomic and transcriptomic somatic alterations of hepatocellular carcinoma in non-cirrhotic livers. | Skidmore ZL et al. | β | 2022 | β |
| Genomic insights into the evolutionary history and diversification of bulb traits in garlic. | Li N et al. | β | 2022 | β |
| Genotype-phenotype association of TARDBP mutations in Chinese patients with amyotrophic lateral sclerosis: a single-center study and systematic review of published literature. | Li J et al. | β | 2022 | β |
| Genotype-phenotype characteristics of Vietnamese patients diagnosed with Charcot-Marie-Tooth disease. | Nguyen-Le TH et al. | β | 2022 | β |
| Genotype-phenotype correlation of Parkinson's disease with PRKN variants. | Yoshino H et al. | β | 2022 | β |
| Germline mosaicism of a missense variant in KCNC2 in a multiplex family with autism and epilepsy characterized by long-read sequencing. | Mehinovic E et al. | β | 2022 | β |
| Germline Mutations in <i>CIDEB</i> and Protection against Liver Disease. | Verweij N et al. | β | 2022 | β |
| Germline variants in cancer-predisposing genes in pancreatic cancer patients with a family history of cancer. | Terashima T et al. | β | 2022 | β |
| Global population genetics and diversity in the TAS2R bitter taste receptor family. | Wooding SP et al. | β | 2022 | β |
| Harmonizing model organism data in the Alliance of Genome Resources. | Alliance of Genome Resources Consortium | β | 2022 | β |
| Heterozygous LRP1 deficiency causes developmental dysplasia of the hip by impairing triradiate chondrocytes differentiation due to inhibition of autophagy. | Yan W et al. | β | 2022 | β |
| How Functional Genomics Can Keep Pace With VUS Identification. | Anderson CL et al. | β | 2022 | β |
| Humanized substitutions of <i>Vmat1</i> in mice alter amygdala-dependent behaviors associated with the evolution of anxiety. | Sato DX et al. | β | 2022 | β |
| Hybridization underlies localized trait evolution in cavefish. | Moran RL et al. | β | 2022 | β |
| Identification and Characterization of Novel Mutations in Chronic Kidney Disease (CKD) and Autosomal Dominant Polycystic Kidney Disease (ADPKD) in Saudi Subjects by Whole-Exome Sequencing. | Alzahrani OR et al. | β | 2022 | β |
| Identification of 12 OCA Cases in Chinese Population and Two Novel Variants. | Zhong Z et al. | β | 2022 | β |
| Identification of a novel de novo pathogenic variant in GFAP in an Iranian family with Alexander disease by whole-exome sequencing. | Heshmatzad K et al. | β | 2022 | β |
| Identification of a novel ESR1 mutation in a Chinese PCOS woman with estrogen insensitivity in IVF treatment. | Liu F et al. | β | 2022 | β |
| Identification of ENPP1 Haploinsufficiency in Patients With Diffuse Idiopathic Skeletal Hyperostosis and Early-Onset Osteoporosis. | Kato H et al. | β | 2022 | β |
| Identification of Novel and Known LDLR Variants Triggering Severe Familial Hypercholesterolemia in Saudi Families. | Alnouri F et al. | β | 2022 | β |
| Identification of novel genes by targeted exome sequencing in Retinoblastoma. | Bisht S et al. | β | 2022 | β |
| Identification of Novel Mutations in Chinese Infants With Citrullinemia. | Cheng Z et al. | β | 2022 | β |
| Identification of Rare Loss-of-Function Genetic Variation Regulating Body Fat Distribution. | Koprulu M et al. | β | 2022 | β |
| Identification of the most damaging nsSNPs in the human CFL1 gene and their functional and structural impacts on cofilin-1 protein. | Halder SK et al. | β | 2022 | β |
| Identification of ultra-rare disruptive variants in voltage-gated calcium channel-encoding genes in Japanese samples of schizophrenia and autism spectrum disorder. | Wang C et al. | β | 2022 | β |
| Identification of variants in genes associated with autoinflammatory disorders in a cohort of patients with psoriatic arthritis. | Atschekzei F et al. | β | 2022 | β |
| <i>Eph</i> and <i>Ephrin</i> Variants in Malaysian Neural Tube Defect Families. | Mohd-Zin SW et al. | β | 2022 | β |
| <i>In-silico</i> analysis of nonsynonymous genomic variants within <i>CCM2</i> gene reaffirm the existence of dual cores within typical PTB domain. | Padarti A et al. | β | 2022 | β |
| Immune Alterations in a Patient With Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome: A Case Report. | Silvera-Ruiz SM et al. | β | 2022 | β |
| Impaired Neurodevelopmental Genes in Slovenian Autistic Children Elucidate the Comorbidity of Autism With Other Developmental Disorders. | Krgovic D et al. | β | 2022 | β |
| Implementation of preemptive DNA sequence-based pharmacogenomics testing across a large academic medical center: The Mayo-Baylor RIGHT 10K Study. | Wang L et al. | β | 2022 | β |
| Incidence of Hereditary Gastric Cancer May Be Much Higher than Reported. | de Assumpção PB et al. | β | 2022 | β |
| Incorporating genetic counseling into the evaluation of pediatric bone marrow failure. | Schneider KW et al. | β | 2022 | β |
| In silico analyses of Wnt1 nsSNPs reveal structurally destabilizing variants, altered interactions with Frizzled receptors and its deregulation in tumorigenesis. | Mondal A et al. | β | 2022 | β |
| In Silico Analysis of Collagens Missense SNPs and Human Abnormalities. | Kalmari A et al. | β | 2022 | β |
| In-Silico Analysis of Deleterious SNPs of <i>FGF4</i> Gene and Their Impacts on Protein Structure, Function and Bladder Cancer Prognosis. | Lim EC et al. | β | 2022 | β |
| In-silico analysis of non-synonymous single nucleotide polymorphisms in human Ξ²-defensin type 1 gene reveals their impact on protein-ligand binding sites. | Fareed MM et al. | β | 2022 | β |
| Intra- and Interspecies RNA-Seq Based Variants in the Lactation Process of Ruminants. | Farhadian M et al. | β | 2022 | β |
| Investigating underlying human immunity genes, implicated diseasesΒ and their relationship toΒ COVID-19. | Ahmed Z et al. | β | 2022 | β |
| Investigation of Association of Rare, Functional Genetic Variants With Heavy Drinking and Problem Drinking in Exome Sequenced UK Biobank Participants. | Curtis D | β | 2022 | β |
| <i>SOD-1</i> Variants in Amyotrophic Lateral Sclerosis: Systematic Re-Evaluation According to ACMG-AMP Guidelines. | Ruffo P et al. | β | 2022 | β |
| KCTD7-related progressive myoclonic epilepsy: report of three Indian families and review of literature. | Narayanan DL et al. | β | 2022 | β |
| Landscape of TP53 Alterations in Chronic Lymphocytic Leukemia <i>via</i> Data Mining Mutation Databases. | Soussi T et al. | β | 2022 | β |
| Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis. | Moreno Traspas R et al. | β | 2022 | β |
| <i>In silico</i> Prediction of Deleterious Single Nucleotide Polymorphism in S100A4 Metastatic Gene: Potential Early Diagnostic Marker. | Farhana A et al. | β | 2022 | β |
| LYRUS: a machine learning model for predicting the pathogenicity of missense variants. | Lai J et al. | β | 2022 | β |
| Machine-learning of complex evolutionary signals improves classification of SNVs. | Labes S et al. | β | 2022 | β |
| Matrix Metalloproteinase Gene Polymorphisms Are Associated with Breast Cancer in the Caucasian Women of Russia. | Pavlova N et al. | β | 2022 | β |
| MetaRNN: differentiating rare pathogenic and rare benign missense SNVs and InDels using deep learning. | Li C et al. | β | 2022 | β |
| Molecular Analysis and Conformational Dynamics of Human MC4R Disease-Causing Mutations. | Fatima MT et al. | β | 2022 | β |
| Molecular analysis and genotype-phenotype correlations in patients with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency from southern Poland - experience of a clinical center. | KurzyΕska A et al. | β | 2022 | β |
| Molecular characteristics of young-onset colorectal cancer in Vietnamese patients. | Do MD et al. | β | 2022 | β |
| Molecular Dynamic Simulation of Neurexin1Ξ± Mutations Associated with Mental Disorder. | Hendam A et al. | β | 2022 | β |
| Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes. | Akbari P et al. | β | 2022 | β |
| Mutation of the MYH3 gene causes recessive cleft palate in Limousine cattle. | Vaiman A et al. | β | 2022 | β |
| Mutation screening of the DNAJC7 gene in Japanese patients with sporadic amyotrophic lateral sclerosis. | Tohnai G et al. | β | 2022 | β |
| Mutations in <i>BCOR</i>, a co-repressor of <i>CRX/OTX2</i>, are associated with early-onset retinal degeneration. | LangouΓ«t M et al. | β | 2022 | β |
| Mutation spectrum and genotype-phenotype correlations in 157 Korean CADASIL patients: a multicenter study. | Min JY et al. | β | 2022 | β |
| MYO1H is a novel candidate gene for autosomal dominant pure hereditary spastic paraplegia. | SelΓ§uk E et al. | β | 2022 | β |
| NOTCH3 mutations in a cohort of Portuguese patients within CADASIL spectrum phenotype. | Almeida MR et al. | β | 2022 | β |
| Novel and Founder Pathogenic Variants in X-Linked Alport Syndrome Families in Greece. | Hadjipanagi D et al. | β | 2022 | β |
| Novel clinical, molecular and bioinformatics insights into the genetic background of autism. | Talli I et al. | β | 2022 | β |
| Novel compound heterozygous mutation in <i>STAMBP</i> causes a neurodevelopmental disorder by disrupting cortical proliferation. | Hu M et al. | β | 2022 | β |
| Novel compound heterozygous variants of DNAH17 in a Chinese infertile man with multiple morphological abnormalities of sperm flagella. | Liu Z et al. | β | 2022 | β |
| Novel dominant and recessive variants in human ROBO1 cause distinct neurodevelopmental defects through different mechanisms. | Huang Y et al. | β | 2022 | β |
| Novel GRHL3 Variants in a South African Cohort With Cleft Lip and Palate. | Naicker T et al. | β | 2022 | β |
| Novel <i>ABCB4</i> mutations in an infertile female with progressive familial intrahepatic cholestasis type 3: A case report. | Liu TF et al. | β | 2022 | β |
| Novel <i>RCBTB1</i> variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy. | Catomeris AJ et al. | β | 2022 | β |
| Novel Missense and Splice Site Mutations in <i>USH2A</i>, <i>CDH23</i>, <i>PCDH15</i>, and <i>ADGRV1</i> Are Associated With Usher Syndrome in Lebanon. | Jaffal L et al. | β | 2022 | β |
| Novel Mutations of TSPY1 Gene Associate Spermatogenic Failure Among Men. | Paladhi P et al. | β | 2022 | β |
| Novel pathogenic variant combination in <i>LPL</i> causing familial chylomicronemia syndrome in an Asian family and experimental validation <i>in vitro</i>: a case report. | Shi H et al. | β | 2022 | β |
| Novel Titin Gene Mutation Causing Autosomal Dominant Limb-Girdle Muscular Dystrophy. | Peddareddygari LR et al. | β | 2022 | β |
| One Health and Cattle Genetic Resources: Mining More than 500 Cattle Genomes to Identify Variants in Candidate Genes Potentially Affecting Coronavirus Infections. | Bovo S et al. | β | 2022 | β |
| Oxa-376 and Oxa-530 variants of Ξ²-lactamase: computational study uncovers potential therapeutic targets of <i>Acinetobacter baumannii</i>. | Halder SK et al. | β | 2022 | β |
| Oxytocin and vasotocin receptor variation and the evolution of human prosociality. | Theofanopoulou C et al. | β | 2022 | β |
| Pathogenicity Reclassification of Genetic Variants Related to Early-Onset Breast Cancer among Women of Mongoloid Origin. | Gervas P et al. | β | 2022 | β |
| Pedigree-based study to identify GOLGB1 as a risk gene for bipolar disorder. | Liu FR et al. | β | 2022 | β |
| PHACT: Phylogeny-Aware Computing of Tolerance for Missense Mutations. | Kuru N et al. | β | 2022 | β |
| Phenotypic spectrum in recessive STING-associated vasculopathy with onset in infancy: Four novel cases and analysis of previously reported cases. | Wan R et al. | β | 2022 | β |
| PIK3CA hotspot mutations p. H1047R and p. H1047L sensitize breast cancer cells to thymoquinone treatment by regulating the PI3K/Akt1 pathway. | Zhou J et al. | β | 2022 | β |
| PNPLA1-Mediated Acylceramide Biosynthesis and Autosomal Recessive Congenital Ichthyosis. | Zeng F et al. | β | 2022 | β |
| PNPT1, MYO15A, PTPRQ, and SLC12A2-associated genetic and phenotypic heterogeneity among hearing impaired assortative mating families in Southern India. | Vanniya S P et al. | β | 2022 | β |
| Polymorphisms of hypertension susceptibility genes as a risk factors of preeclampsia in the Caucasian population of central Russia. | Churnosov M et al. | β | 2022 | β |
| Polymorphisms of the filaggrin gene are associated with atopic dermatitis in the Caucasian population of Central Russia. | Churnosov M et al. | β | 2022 | β |
| Predicting and interpreting large-scale mutagenesis data using analyses of protein stability and conservation. | HΓΈie MH et al. | β | 2022 | β |
| Predicting the functional impact of KCNQ1 variants with artificial neural networks. | Phul S et al. | β | 2022 | β |
| Prediction of disease-associated nsSNPs by integrating multi-scale ResNet models with deep feature fusion. | Ge F et al. | β | 2022 | β |
| Prediction of evolutionary constraint by genomic annotations improves functional prioritization of genomic variants in maize. | Ramstein GP et al. | β | 2022 | β |
| Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder. | Bender C et al. | β | 2022 | β |
| Preliminary study on the molecular features of mutation in multiple primary oral cancer by whole exome sequencing. | Li K et al. | β | 2022 | β |
| Preneoplastic somatic mutations including <i>MYD88</i><sup>L265P</sup> in lymphoplasmacytic lymphoma. | Rodriguez S et al. | β | 2022 | β |
| Presence of rare potential pathogenic variants in subjects under 65Β years old with very severe or fatal COVID-19. | LΓ³pez-RodrΓguez R et al. | β | 2022 | β |
| Prevalence estimates of putatively pathogenic leptin variants in the gnomAD database. | Rajcsanyi LS et al. | β | 2022 | β |
| Primary antibody deficiencies in Turkey: molecular and clinical aspects. | Firtina S et al. | β | 2022 | β |
| Protein structural bioinformatics: An overview. | Paiva VA et al. | β | 2022 | β |
| Protposer: The web server that readily proposes protein stabilizing mutations with high PPV. | GarcΓa-Cebollada H et al. | β | 2022 | β |
| Pulmonary Hypertension Associated Genetic Variants in Sarcoidosis Associated Pulmonary Hypertension. | Groen K et al. | β | 2022 | β |
| Rapid genome sequencing for pediatrics. | Jezkova J et al. | β | 2022 | β |
| Rare KCND3 Loss-of-Function Mutation Associated With the SCA19/22. | Li M et al. | β | 2022 | β |
| Rare variants in TP73 in a frontotemporal dementia cohort link this gene with primary progressive aphasia phenotypes. | TΓ‘buas-Pereira M et al. | β | 2022 | β |
| Re-evaluation of missense variant classifications in NF2. | Sadler KV et al. | β | 2022 | β |
| Revisiting benchmark study for response to methodological critiques of 'Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases'. | Yuan X et al. | β | 2022 | β |
| Ribosomal protein S6 kinase beta-1 gene variants cause hypertrophic cardiomyopathy. | Jain PK et al. | β | 2022 | β |
| Role of Mitochondrial Mutations in Ocular Aggregopathy. | Chakraborty M et al. | β | 2022 | β |
| Scaling up oligogenic diseases research with OLIDA: the Oligogenic Diseases Database. | Nachtegael C et al. | β | 2022 | β |
| Screening of Pathogenic Missense Single Nucleotide Variants From <i>LHPP</i> Gene Associated With the Hepatocellular Carcinoma: An <i>In silico</i> Approach. | Mahmood MS et al. | β | 2022 | β |
| Scrutinizing Deleterious Nonsynonymous SNPs and Their Effect on Human POLD1 Gene. | Bappy MNI et al. | β | 2022 | β |
| SecondaryΒ genomic findings in the 2020 China Neonatal Genomes Project participants. | Xiao H et al. | β | 2022 | β |
| Severe combined immunodeficiencies: Expanding the mutation spectrum in Turkey and identification of 12 novel variants. | Aykut A et al. | β | 2022 | β |
| Shared genetic risk factors and causal association between psoriasis and coronary artery disease. | Patrick MT et al. | β | 2022 | β |
| Single Nucleotide Variants in KIF14 Gene May Have Prognostic Value in Breast Cancer. | Krus I et al. | β | 2022 | β |
| SNP discovery and association study for growth, fatness and meat quality traits in Iberian crossbred pigs. | Γvilo C et al. | β | 2022 | β |
| Somatic Mutations Alter Interleukin Signaling Pathways in Grade II Invasive Breast Cancer Patients: An Egyptian Experience. | Nassar A et al. | β | 2022 | β |
| SorghumBase: a web-based portal for sorghum genetic information and community advancement. | Gladman N et al. | β | 2022 | β |
| Study of variants in genes implicated in rare familial migraine syndromes and their association with migraine in 200,000 exome-sequenced UK Biobank participants. | Markel KA et al. | β | 2022 | β |
| Successful outcomes of intracytoplasmic sperm injection-embryo transfer using ejaculated spermatozoa from two Chinese asthenoteratozoospermic brothers with a compound heterozygous FSIP2 mutation. | Yuan Y et al. | β | 2022 | β |
| Targeted deep sequencing analyses of long QT syndrome in a Japanese population. | Nagata Y et al. | β | 2022 | β |
| Targeted Exome Sequencing of Genes Involved in Rare CNVs in Early-Onset Severe Obesity. | Loid P et al. | β | 2022 | β |
| Targeted next-generation sequencing in a large series of fetuses with severe renal diseases. | Jordan P et al. | β | 2022 | β |
| TargetMM: Accurate Missense Mutation Prediction by Utilizing Local and Global Sequence Information with Classifier Ensemble. | Ge F et al. | β | 2022 | β |
| Testing for Dihydropyrimidine Dehydrogenase Deficiency to Individualize 5-Fluorouracil Therapy. | Diasio RB et al. | β | 2022 | β |
| The Association of Variants within Types V and XI Collagen Genes with Knee Joint Laxity Measurements. | Beckley S et al. | β | 2022 | β |
| The Modifying Effect of Obesity on the Association of Matrix Metalloproteinase Gene Polymorphisms with Breast Cancer Risk. | Pavlova N et al. | β | 2022 | β |
| The Phenotypic Continuum of <i>ATP1A3</i>-Related Disorders. | Vezyroglou A et al. | β | 2022 | β |
| The S100A7 nuclear interactors in autoimmune diseases: a coevolutionary study in mammals. | D'Amico F et al. | β | 2022 | β |
| TogoVar: A comprehensive Japanese genetic variation database. | Mitsuhashi N et al. | β | 2022 | β |
| Towards a Better Understanding of Genotype-Phenotype Correlations and Therapeutic Targets for Cardiocutaneous Genes: The Importance of Functional Studies above Prediction. | Vermeer MCSC et al. | β | 2022 | β |
| Tracing Bai-Yue Ancestry in Aboriginal Li People on Hainan Island. | Chen H et al. | β | 2022 | β |
| Two Loci Contribute to Age-Related Hearing Loss Resistance in the Japanese Wild-Derived Inbred MSM/Ms Mice. | Yasuda SP et al. | β | 2022 | β |
| Two-stage-vote ensemble framework based on integration of mutation data and gene interaction network for uncovering driver genes. | Kan Y et al. | β | 2022 | β |
| Ultra-Rare BRD9 Loss-of-Function Variants Limit the Antiviral Action of Interferon. | Mair NK et al. | β | 2022 | β |
| Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry. | Dumont M et al. | β | 2022 | β |
| Update on CD164 and LMX1A genes to strengthen their causative role in autosomal dominant hearing loss. | OziΔbΕo D et al. | β | 2022 | β |
| Variant interpretation in molecular autopsy: a useful dilemma. | Scheiper-Welling S et al. | β | 2022 | β |
| VIPPID: a gene-specific single nucleotide variant pathogenicity prediction tool for primary immunodeficiency diseases. | Fang M et al. | β | 2022 | β |
| Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis. | Ewans LJ et al. | β | 2022 | β |
| Whole-exome sequencing identified genes known to be responsible for retinitis pigmentosa in 28 Chinese families. | Shen C et al. | β | 2022 | β |
| Whole-exome sequencing identified mutational profiles of urothelial carcinoma post kidney transplantation. | Lim LM et al. | β | 2022 | β |
| Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models. | Wang C et al. | β | 2022 | β |
| Whole-exome sequencing identifies rare genetic variants associated with human plasma metabolites. | Bomba L et al. | β | 2022 | β |
| Whole exome sequencing in dense families suggests genetic pleiotropy amongst Mendelian and complex neuropsychiatric syndromes. | Ganesh S et al. | β | 2022 | β |
| Whole-Exome Sequencing Revealed a Pathogenic Nonsense Variant in the SLC19A2 Gene in an Iranian Family with Thiamine-Responsive Megaloblastic Anemia. | Mohsen-Pour N et al. | β | 2022 | β |
| Whole Exome Sequencing Revealed Variants That Predict Pulmonary Artery Involvement in Patients with Takayasu Arteritis. | Liu L et al. | β | 2022 | β |
| Whole-Genome Sequencing Identifies Two Novel Rare Mutations in BMP5 and BMP2 in Monozygotic Twins With Microtia. | Liu W et al. | β | 2022 | β |
| 3Cnet: pathogenicity prediction of human variants using multitask learning with evolutionary constraints. | Won DG et al. | β | 2021 | β |
| A chickpea genetic variation map based on the sequencing of 3,366 genomes. | Varshney RK et al. | β | 2021 | β |
| A DNA Damage Response Gene Panel for Different Histologic Types of Epithelial Ovarian Carcinomas and Their Outcomes. | Chiang YC et al. | β | 2021 | β |
| A domain damage index to prioritizing the pathogenicity of missense variants. | Chen HC et al. | β | 2021 | β |
| Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy. | Debs S et al. | β | 2021 | β |
| A global map of associations between types of protein posttranslational modifications and human genetic diseases. | Vellosillo P et al. | β | 2021 | β |
| A Homozygous Deep Intronic Mutation Alters the Splicing of Nebulin Gene in a Patient With Nemaline Myopathy. | Laflamme N et al. | β | 2021 | β |
| A Missense Mutation in the <i>MYBPH</i> Gene Is Associated With Abdominal Fat Traits in Meat-Type Chickens. | Trevisoli PA et al. | β | 2021 | β |
| A Missense Variant in the Bardet-Biedl Syndrome 2 Gene (<i>BBS2</i>) Leads to a Novel Syndromic Retinal Degeneration in the Shetland Sheepdog. | Hitti-Malin RJ et al. | β | 2021 | β |
| Analysis of 200β000 exome-sequenced UK Biobank subjects fails to identify genes influencing probability of developing a mood disorder resulting in psychiatric referral. | Curtis D | β | 2021 | β |
| Analysis of 200,000 Exome-Sequenced UK Biobank Subjects Implicates Genes Involved in Increased and Decreased Risk of Hypertension. | Curtis D | β | 2021 | β |
| Analysis of <i>CYP2J2</i> mutations in the Chinese Uyghur population. | Li H et al. | β | 2021 | β |
| An Axin2Β mutation and perinatal risk factors contribute to sagittal craniosynostosis: evidence from a Chinese female monochorionic diamniotic twin family. | Xu J et al. | β | 2021 | β |
| An <i>FGA</i> Frameshift Variant Associated with Afibrinogenemia in Dachshunds. | Mischke R et al. | β | 2021 | β |
| An Investigation of the Role of Common and Rare Variants in a Large Italian Multiplex Family of Multiple Sclerosis Patients. | Barizzone N et al. | β | 2021 | β |
| A novel synonymous ABCA3 variant identified in a Chinese family with lethal neonatal respiratory failure. | Zhang W et al. | β | 2021 | β |
| A Rare Mutation in <i>LMNB2</i> Associated with Lipodystrophy Drives Premature Cell Senescence. | Varlet AA et al. | β | 2021 | β |
| Association of the functionally significant polymorphisms of the MMP9 gene with H. pylori-positive gastric ulcer in the Caucasian population of Central Russia. | Dvornyk V et al. | β | 2021 | β |
| A systematic review and meta-analysis of the association of ABCC2/ABCG2 polymorphisms with antiepileptic drug responses in epileptic patients. | Zan X et al. | β | 2021 | β |
| A systematic view of computational methods for identifying driver genes based on somatic mutation data. | Kan Y et al. | β | 2021 | β |
| A thrombophilia family with protein S deficiency due to protein translation disorders caused by a Leu607Ser heterozygous mutation in PROS1. | Zhang YP et al. | β | 2021 | β |
| A trans locus causes a ribosomopathy in hypertrophic hearts that affects mRNA translation in a protein length-dependent fashion. | Witte F et al. | β | 2021 | β |
| Bi-allelic mutations of DNAH10 cause primary male infertility with asthenoteratozoospermia in humans and mice. | Tu C et al. | β | 2021 | β |
| Bi-allelic variants in human WDR63 cause male infertility via abnormal inner dynein arms assembly. | Lu S et al. | β | 2021 | β |
| Bi-allelic variants in MTMR5/SBF1 cause Charcot-Marie-Tooth type 4B3 featuring mitochondrial dysfunction. | Berti B et al. | β | 2021 | β |
| Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD. | Sangermano R et al. | β | 2021 | β |
| Broadening the phenotypic spectrum of Beta3GalT6-associated phenotypes. | Leoni C et al. | β | 2021 | β |
| CAMT-MPL: congenital amegakaryocytic thrombocytopenia caused by MPL mutations - heterogeneity of a monogenic disorder - a comprehensive analysis of 56 patients. | Germeshausen M et al. | β | 2021 | β |
| CARMN-NOTCH2 fusion transcript drives high NOTCH2 expression in glomus tumors of the upper digestive tract. | Girard N et al. | β | 2021 | β |
| CDON gene contributes to pituitary stalk interruption syndrome associated with unilateral facial and abducens nerve palsy. | Obara-MoszyΕska M et al. | β | 2021 | β |
| Characterization of a Compound Heterozygous SLC2A9 Mutation That Causes Hypouricemia. | Yoon J et al. | β | 2021 | β |
| Characterization of a novel mutation V136L in bone morphogenetic protein 15 identified in a woman affected by POI. | Ferrarini E et al. | β | 2021 | β |
| Characterization of Rheumatoid Arthritis Risk-Associated SNPs and Identification of Novel Therapeutic Sites Using an <i>In-Silico</i> Approach. | Akhtar M et al. | β | 2021 | β |
| Characterization of Two Variants at Met 1 of the Human <i>LDLR</i> Gene Encoding the Same Amino Acid but Causing Different Functional Phenotypes. | GraΓ§a R et al. | β | 2021 | β |
| Clinical and Molecular Update on the Fourth Reported Family with Hamamy Syndrome. | MΓ©garbanΓ© A et al. | β | 2021 | β |
| Clinical characteristics and genetic spectrum of 26 individuals of Chinese origin with primary ciliary dyskinesia. | Zhao X et al. | β | 2021 | β |
| Clinical Characteristics and Mutation Spectrum of Neurofibromatosis Type 1 in 27 Turkish Families. | Sharifi S et al. | β | 2021 | β |
| Comparative analysis of clonal evolution among patients with right- and left-sided colon and rectal cancer. | Banerjee S et al. | β | 2021 | β |
| Comprehensive characterization of 536 patient-derived xenograft models prioritizes candidatesfor targeted treatment. | Sun H et al. | β | 2021 | β |
| Comprehensive Identification of Deleterious <i>TP53</i> Missense VUS Variants Based on Their Impact on TP53 Structural Stability. | Tam B et al. | β | 2021 | β |
| Computational Insights into the Deleterious Impacts of Missense Variants on <i>N</i>-Acetyl-d-glucosamine Kinase Structure and Function. | Dash R et al. | β | 2021 | β |
| ConsRM: collection and large-scale prediction of the evolutionarily conserved RNA methylation sites, with implications for the functional epitranscriptome. | Song B et al. | β | 2021 | β |
| Contribution of HCN1 variant to sinus bradycardia: A case report. | Yu H et al. | β | 2021 | β |
| Contribution of rare variant associations to neurodegenerative disease presentation. | Dilliott AA et al. | β | 2021 | β |
| De novo mutation in KITLG gene causes a variant of Familial Progressive Hyper- and Hypo-pigmentation (FPHH). | Gorenjak M et al. | β | 2021 | β |
| Design and performance of a bovine 200βk SNP chip developed for endangered German Black Pied cattle (DSN). | Neumann GB et al. | β | 2021 | β |
| Detecting Rewiring Events in Protein-Protein Interaction Networks Based on Transcriptomic Data. | Hollander M et al. | β | 2021 | β |
| Detection and analysis of common pathogenic germline mutations in Peutz-Jeghers syndrome. | Gu GL et al. | β | 2021 | β |
| Determination of genetic effects and functional SNPs of bovine HTR1B gene on milk fatty acid traits. | Cao M et al. | β | 2021 | β |
| Developmental disabilities across the world: A scientometric review from 1936 to 2020. | Carollo A et al. | β | 2021 | β |
| Dominant KPNA3 Mutations Cause Infantile-Onset Hereditary Spastic Paraplegia. | Schob C et al. | β | 2021 | β |
| Epidemiological aspects of hereditary fructose intolerance: A database study. | Pinheiro FC et al. | β | 2021 | β |
| Evolutionary and functional lessons from human-specific amino acid substitution matrices. | Shauli T et al. | β | 2021 | β |
| Exonic SNP in MHC-DMB2 is associated with gene expression and humoral immunity in Japanese quails. | Chenani H et al. | β | 2021 | β |
| Expanding the Phenotypic and Genotypic Spectrum of Bietti Crystalline Dystrophy. | da Palma MM et al. | β | 2021 | β |
| Feature Point Extraction and Motion Tracking of Cardiac Color Ultrasound under Improved Lucas-Kanade Algorithm. | Zhang X et al. | β | 2021 | β |
| Filaggrin gene polymorphisms are associated with atopic dermatitis in women but not in men in the Caucasian population of Central Russia. | Dvornyk V et al. | β | 2021 | β |
| Fucosidosis in Tunisian patients: mutational analysis and homology-based modeling of FUCA1 enzyme. | Chkioua L et al. | β | 2021 | β |
| Functional and structural analysis of non-synonymous single nucleotide polymorphisms (nsSNPs) in the MYB oncoproteins associated with human cancer. | Lim SW et al. | β | 2021 | β |
| Functional genomics of GPR126 in airway smooth muscle and bronchial epithelial cells. | Hall RJ et al. | β | 2021 | β |
| Functionally significant polymorphisms of the MMP-9 gene are associated with peptic ulcer disease in the Caucasian population of Central Russia. | Minyaylo O et al. | β | 2021 | β |
| Genes affecting ionizing radiation survival identified through combined exome sequencing and functional screening. | Gupta M et al. | β | 2021 | β |
| Genetic Analysis of Acid Ξ²-Glucosidase in Patients with Multiple Myeloma from Central Taiwan: A Small-Cohort Case-Control Study. | Lin WD et al. | β | 2021 | β |
| Genetic analysis of four consanguineous multiplex families with inflammatory bowel disease. | Ben-Yosef N et al. | β | 2021 | β |
| Genetic and immunologic findings in children with recurrent aphthous stomatitis with systemic inflammation. | Girardelli M et al. | β | 2021 | β |
| Genetic evaluation supports differential diagnosis in adolescent patients with delayed puberty. | Saengkaew T et al. | β | 2021 | β |
| Genetic factors in treatment-related cardiovascular complications in survivors of childhood acute lymphoblastic leukemia. | Petrykey K et al. | β | 2021 | β |
| Genetic Screening Revealed Latent Keratoconus in Asymptomatic Individuals. | Chen S et al. | β | 2021 | β |
| Genetic susceptibility to acute graft versus host disease in pediatric patients undergoing HSCT. | Ansari M et al. | β | 2021 | β |
| Genomic and epigenomic evolution of acquired resistance to combination therapy in esophageal squamous cell carcinoma. | Min Q et al. | β | 2021 | β |
| Germline <i>CDH1</i> G212E Missense Variant: Combining Clinical, In Vitro and In Vivo Strategies to Unravel Disease Burden. | Figueiredo J et al. | β | 2021 | β |
| Glycoprotein 2 in health and disease: lifting the veil. | Lin Y et al. | β | 2021 | β |
| Good Tumor Response to Chemoradioimmunotherapy in dMMR/MSI-H Advanced Colorectal Cancer: A Case Series. | Zhou C et al. | β | 2021 | β |
| Haploinsufficiency of the HIRA gene may not always produce severe neurodevelopmental consequences. | Curtis D | β | 2021 | β |
| Hearing Impairment with Monoallelic GJB2 Variants: A GJB2 Cause or Non-GJB2 Cause? | Lin YH et al. | β | 2021 | β |
| Hereditary sensory and autonomic neuropathy in a family of mixed breed dogs associated with a novel RETREG1 variant. | Gutierrez-Quintana R et al. | β | 2021 | β |
| Heterogeneity of Axenfeld-Rieger Syndrome: Molecular and Clinical Findings in Chinese Patients. | Zhang Y et al. | β | 2021 | β |
| Homozygous R136S mutation in PRNP gene causes inherited early onset prion disease. | Ximelis T et al. | β | 2021 | β |
| <i>BRCA1</i> and <i>BRCA2</i> Variation in Taiwanese General Population and the Cancer Cohort. | Chian J et al. | β | 2021 | β |
| Identification and <i>in silico</i> Characterization of Deleterious Single Nucleotide Variations in Human ZP2 Gene. | Rajput N et al. | β | 2021 | β |
| Identification of ACOT13 and PTGER2 as novel candidate genes of autosomal dominant polycystic kidney disease through whole exome sequencing. | Du N et al. | β | 2021 | β |
| Identification of a Novel Homozygous Mutation in <i>BBS10</i> Gene in an Iranian Family with Bardet-Biedl Syndrome. | Dehani M et al. | β | 2021 | β |
| Identification of a novel point mutation in DAX-1 gene in a patient with adrenal hypoplasia congenita. | Choi HS et al. | β | 2021 | β |
| Identification of a Novel Stop Loss Mutation in P2RX2 Gene in an Iranian Family with Autosomal Nonsyndromic Hearing Loss | Azizi Malamiri R et al. | β | 2021 | β |
| Identification of deleterious single nucleotide polymorphism (SNP)s in the human <i>TBX5</i> gene & prediction of their structural & functional consequences: An <i>in silico</i> approach. | Mahfuz AMUB et al. | β | 2021 | β |
| Identification of discriminative gene-level and protein-level features associated with pathogenic gain-of-function and loss-of-function variants. | Sevim Bayrak C et al. | β | 2021 | β |
| Identification of Novel Mutations in Colorectal Cancer Patients Using AmpliSeq Comprehensive Cancer Panel. | Almuzzaini B et al. | β | 2021 | β |
| Identification of Novel Variants in Cleft Palate-Associated Genes in Brazilian Patients With Non-syndromic Cleft Palate Only. | Machado RA et al. | β | 2021 | β |
| Identification of Two <i>de novo</i> Variants of <i>CACNA1A</i> in Pediatric Chinese Patients With Paroxysmal Tonic Upgaze. | Zhang LP et al. | β | 2021 | β |
| Identifying digenic disease genes via machine learning in the Undiagnosed Diseases Network. | Mukherjee S et al. | β | 2021 | β |
| Identifying Susceptibility Loci for Cutaneous Squamous Cell Carcinoma Using a Fast Sequence Kernel Association Test. | Huang M et al. | β | 2021 | β |
| <i>DPYD</i> Exome, mRNA Expression and Uracil Levels in Early Severe Toxicity to Fluoropyrimidines: An Extreme Phenotype Approach. | Villalvazo P et al. | β | 2021 | β |
| <i>Lens orientalis</i> Contributes Quantitative Trait Loci and Candidate Genes Associated With Ascochyta Blight Resistance in Lentil. | Dadu RHR et al. | β | 2021 | β |
| Impact of Deleterious Mutations on Structure, Function and Stability of Serum/Glucocorticoid Regulated Kinase 1: A Gene to Diseases Correlation. | AlAjmi MF et al. | β | 2021 | β |
| Imprecise Medicine: BRCA2 Variants of Uncertain Significance (VUS), the Challenges and Benefits to Integrate a Functional Assay Workflow with Clinical Decision Rules. | Jimenez-Sainz J et al. | β | 2021 | β |
| Improved pathogenicity prediction for rare human missense variants. | Wu Y et al. | β | 2021 | β |
| Incorporating structural features to improve the prediction and understanding of pathogenic amino acid substitutions. | Xiong Y et al. | β | 2021 | β |
| Incorporation of exome-based CNV analysis makes trio-WES a more powerful tool for clinical diagnosis in neurodevelopmental disorders: A retrospective study. | Zhai Y et al. | β | 2021 | β |
| In silico analysis of deleterious SNPs of human MTUS1 gene and their impacts on subsequent protein structure and function. | Rozario LT et al. | β | 2021 | β |
| In-silico analysis reveals druggable single nucleotide polymorphisms in angiotensin 1 converting enzyme involved in the onset of blood pressure. | Udosen B et al. | β | 2021 | β |
| Integrative assessment of CIP2A overexpression and mutational effects in human malignancies identifies possible deleterious variants. | Tarek MM et al. | β | 2021 | β |
| LDLR variants functional characterization: Contribution to variant classification. | Alves AC et al. | β | 2021 | β |
| Mapping gene and gene pathways associated with coronary artery disease: a CARDIoGRAM exome and multi-ancestry UK biobank analysis. | Hariharan P et al. | β | 2021 | β |
| Massive parallel sequencing in individuals with multiple primary tumours reveals the benefit of re-analysis. | Wallander K et al. | β | 2021 | β |
| Methodology in phenome-wide association studies: a systematic review. | Wang L et al. | β | 2021 | β |
| Molecular-based precision oncology clinical decision making augmented by artificial intelligence. | Zeng J et al. | β | 2021 | β |
| Molecular evolution of PCSK family: Analysis of natural selection rate and gene loss. | Parvaz N et al. | β | 2021 | β |
| Monogenic Childhood Diabetes: Dissecting Clinical Heterogeneity by Next-Generation Sequencing in Maturity-Onset Diabetes of the Young. | Demirci DK et al. | β | 2021 | β |
| Multiple Sources of Introduction of North American Arabidopsis thaliana from across Eurasia. | Shirsekar G et al. | β | 2021 | β |
| Multiple variants in <i>XDH</i> and <i>MOCOS</i> underlie xanthine urolithiasis in dogs. | Tate NM et al. | β | 2021 | β |
| Mutational Landscape of Pirin and Elucidation of the Impact of Most Detrimental Missense Variants That Accelerate the Breast Cancer Pathways: A Computational Modelling Study. | Suleman M et al. | β | 2021 | β |
| Mutation analysis of SOD1, C9orf72, TARDBP and FUS genes in ethnically-diverse Malaysian patients with amyotrophic lateral sclerosis (ALS). | Edgar S et al. | β | 2021 | β |
| Mutations in MT-ATP6 are a frequent cause of adult-onset spinocerebellar ataxia. | Nolte D et al. | β | 2021 | β |
| Myopia in African Americans Is Significantly Linked to Chromosome 7p15.2-14.2. | Simpson CL et al. | β | 2021 | β |
| New Insights of Phospholipase A2 Associated Neurodegeneration Phenotype Based on the Long-Term Follow-Up of a Large Hungarian Family. | Toth-Bencsik R et al. | β | 2021 | β |
| Novel Compound Heterozygous Mutation c.3955_3958dup and c.5825C>T in the <i>ATM</i> Gene: Clinical Evidence of Ataxia-Telangiectasia and Cancer in a Peruvian Family. | Rodriguez RS et al. | β | 2021 | β |
| Novel <i>AQP2</i> Mutations and Clinical Characteristics in Seven Chinese Families With Congenital Nephrogenic Diabetes Insipidus. | Li Q et al. | β | 2021 | β |
| Novel Likely Pathogenic Variants Identified by Panel-Based Exome Sequencing in Congenital Cataract Patients. | Chen D et al. | β | 2021 | β |
| Novel splicing (c.6529-1G>T) and missense (c.1667G>A) mutations causing factor V deficiency. | Maharaj S et al. | β | 2021 | β |
| Novel variants in GUCY2D causing retinopathy and the genotype-phenotype correlation. | Yi Z et al. | β | 2021 | β |
| Pattern Recognition Molecules of Lectin Complement Pathway in Ischemic Stroke. | Tsakanova G et al. | β | 2021 | β |
| PDigenic Mutations in Junctional Epidermolysis Bullosa in An Iranian Family. | Riahi K et al. | β | 2021 | β |
| Personalized treatment with retigabine for pharmacoresistant epilepsy arising from a pathogenic variant in the KCNQ2 selectivity filter. | Nissenkorn A et al. | β | 2021 | β |
| Phenotypic and immune functional profiling of patients with suspected Mendelian Susceptibility to Mycobacterial Disease in South Africa. | van Coller A et al. | β | 2021 | β |
| Pitt-Hopkins syndrome: phenotypic and genotypic description of four unrelated patients and structural analysis of corresponding missense mutations. | Zhao T et al. | β | 2021 | β |
| Population diversity of cassava mosaic begomoviruses increases over the course of serial vegetative propagation. | Aimone CD et al. | β | 2021 | β |
| Predicting the Most Deleterious Missense Nonsynonymous Single-Nucleotide Polymorphisms of Hennekam Syndrome-Causing CCBE1 Gene, In Silico Analysis. | Shinwari K et al. | β | 2021 | β |
| Prenatal diagnosis of a nonsense mutation in the L1CAM gene resulting in congenital hydrocephalus: A case report and literature review. | Wang R et al. | β | 2021 | β |
| Prevalence and Clinical Characteristics of Hearing Loss Caused by <i>MYH14</i> Variants. | Hiramatsu K et al. | β | 2021 | β |
| Proteomics-derived basal biomarker DNA-PKcs is associated with intrinsic subtype and long-term clinical outcomes in breast cancer. | Asleh K et al. | β | 2021 | β |
| PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease. | Peeters MHCA et al. | β | 2021 | β |
| Rare Gain-of-Function <i>KCND3</i> Variant Associated with Cerebellar Ataxia, Parkinsonism, Cognitive Dysfunction, and Brain Iron Accumulation. | Hsiao CT et al. | β | 2021 | β |
| Rare Missense Functional Variants at <i>COL4A1</i> and <i>COL4A2</i> in Sporadic Intracerebral Hemorrhage. | Chung J et al. | β | 2021 | β |
| Restoring fertility in yeast hybrids: Breeding and quantitative genetics of beneficial traits. | Naseeb S et al. | β | 2021 | β |
| Screening for extremely rare pathogenic variants of monogenic diabetes using targeted panel sequencing. | PΕoszaj T et al. | β | 2021 | β |
| Sequence Neighborhoods Enable Reliable Prediction of Pathogenic Mutations in Cancer Genomes. | Banerjee S et al. | β | 2021 | β |
| Severe neurodevelopmental disorder with intractable seizures due to a novel SLC1A4 homozygous variant. | SedlΓ‘ΔkovΓ‘ L et al. | β | 2021 | β |
| Structural genomics approach to investigate deleterious impact of nsSNPs in conserved telomere maintenance component 1. | Choudhury A et al. | β | 2021 | β |
| Sudden Death without a Clear Cause after Comprehensive Investigation: An Example of Forensic Approach to Atypical/Uncertain Findings. | Grassi S et al. | β | 2021 | β |
| Synonymous and non-synonymous polymorphisms in toll-like receptor 2 (TLR2) gene among complicated measles cases at a tertiary care hospital, Peshawar, Pakistan. | Ilyas M et al. | β | 2021 | β |
| TBC1D24 emerges as an important contributor to progressive postlingual dominant hearing loss. | OziΔbΕo D et al. | β | 2021 | β |
| The conserved ASTN2/BRINP1 locus at 9q33.1-33.2 is associated with major psychiatric disorders in a large pedigree from Southern Spain. | Pol-Fuster J et al. | β | 2021 | β |
| The first insight into the genetic structure of the population of modern Serbia. | Drljaca T et al. | β | 2021 | β |
| The Novel Phosphatase Domain Mutations Q171R and Y65S Switch PTEN from Tumor Suppressor to Oncogene. | Garrido JAMG et al. | β | 2021 | β |
| The Positivity of Phosphorylated STAT3 Is a Novel Marker for Favorable Prognosis in Germinal Center B-Cell Type of Diffuse Large B-Cell Lymphoma. | Morichika K et al. | β | 2021 | β |
| The Second Oncogenic Hit Determines the Cell Fate of <i>ETV6-RUNX1</i> Positive Leukemia. | RodrΓguez-HernΓ‘ndez G et al. | β | 2021 | β |
| TNFRSF13B genotypes control immune-mediated pathology by regulating the functions of innate B cells. | de Mattos Barbosa MG et al. | β | 2021 | β |
| Towards a New, Endophenotype-Based Strategy for Pathogenicity Prediction in BRCA1 and BRCA2: In Silico Modeling of the Outcome of HDR/SGE Assays for Missense Variants. | Γzkan S et al. | β | 2021 | β |
| Understanding the Origins of Loss of Protein Function by Analyzing the Effects of Thousands of Variants on Activity and Abundance. | Cagiada M et al. | β | 2021 | β |
| Variation in the Evolution and Sequences of Proglucagon and the Receptors for Proglucagon-Derived Peptides in Mammals. | Irwin DM | β | 2021 | β |
| Which Is the Best <i>In Silico</i> Program for the Missense Variations in IDUA Gene? A Comparison of 33 Programs Plus a Conservation Score and Evaluation of 586 Missense Variants. | Borges P et al. | β | 2021 | β |
| Whole-exome sequencing identification of a recurrent <i>CRYBB2</i> variant in a four-generation Chinese family with congenital nuclear cataracts. | Chen D et al. | β | 2021 | β |
| Whole-exome sequencing identifies an <i>RS1</i> variant in a Chinese family with X-linked retinoschisis. | Chen D et al. | β | 2021 | β |
| Whole exome sequencing identifies deleterious rare variants in CCDC141 in familial self-limited delayed puberty. | Saengkaew T et al. | β | 2021 | β |
| Whole-exome sequencing, <i>EGFR</i> amplification and infiltration patterns in human glioblastoma. | LΓ³pez-GinΓ©s C et al. | β | 2021 | β |
| Whole-Exome Sequencing in a Cohort of High Myopia Patients in Northwest China. | Liu Y et al. | β | 2021 | β |
| Whole-Exome Sequencing Reveals a Rare Variant of <i>OTOF</i> Gene Causing Congenital Non-syndromic Hearing Loss Among Large Muslim Families Favoring Consanguinity. | Fareed M et al. | β | 2021 | β |
| Whole Exome Sequencing reveals NOTCH1 mutations in anaplastic large cell lymphoma and points to Notch both as a key pathway and a potential therapeutic target. | Larose H et al. | β | 2021 | β |
| Whole-Exome Sequencing Reveals Rare Germline Mutations in Patients With Hemifacial Microsomia. | Chen X et al. | β | 2021 | β |
| Whole genome sequences of two <i>Trichophyton indotineae</i> clinical isolates from India emerging as threats during therapeutic treatment of dermatophytosis. | Kumar P et al. | β | 2021 | β |
| Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing. | van Eyk CL et al. | β | 2021 | β |