Merlin--rapid analysis of dense genetic maps using sparse gene flow trees.
paper
Cited
Public
Unavailable
- Authors
- Abecasis, Gonçalo R; Cherny, Stacey S; Cookson, William O; Cardon, Lon R
- Year
- 2002
- Journal
- Nature genetics
- PMID
- 11731797
- DOI
- 10.1038/ng786
Efforts to find disease genes using high-density single-nucleotide polymorphism (SNP) maps will produce data sets that exceed the limitations of current computational tools. Here we describe a new, efficient method for the analysis of dense genetic maps in pedigree data that provides extremely fast solutions to common problems such as allele-sharing analyses and haplotyping. We show that sparse binary trees represent patterns of gene flow in general pedigrees in a parsimonious manner, and derive a family of related algorithms for pedigree traversal. With these trees, exact likelihood calculations can be carried out efficiently for single markers or for multiple linked markers. Using an approximate multipoint calculation that ignores the unlikely possibility of a large number of recombinants further improves speed and provides accurate solutions in dense maps with thousands of markers. Our multipoint engine for rapid likelihood inference (Merlin) is a computer program that uses sparse inheritance trees for pedigree analysis; it performs rapid haplotyping, genotype error detection and affected pair linkage analyses and can handle more markers than other pedigree analysis packages.
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| Impulsivity is a heritable trait in rodents and associated with a novel quantitative trait locus on chromosome 1. | Jupp B et al. | β | 2020 | β |
| Inherited human IFN-Ξ³ deficiency underlies mycobacterial disease. | Kerner G et al. | β | 2020 | β |
| <i>YARS2</i> Missense Variant in Belgian Shepherd Dogs with Cardiomyopathy and Juvenile Mortality. | Gurtner C et al. | β | 2020 | β |
| Maternal uniparental disomy of chromosome 4 indicated by allele copy number of short tandem repeats. | Liu QL et al. | β | 2020 | β |
| Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes. | Perrino PA et al. | β | 2020 | β |
| Mutation affecting the conserved acidic WNK1 motif causes inherited hyperkalemic hyperchloremic acidosis. | Louis-Dit-Picard H et al. | β | 2020 | β |
| Mutation in ALOX12B likely cause of POI and also ichthyosis in a large Iranian pedigree. | Alavi A et al. | β | 2020 | β |
| Novel Loss-of-Function Variants in <i>CDC14A</i> are Associated with Recessive Sensorineural Hearing Loss in Iranian and Pakistani Patients. | Doll J et al. | β | 2020 | β |
| Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort. | Prasov L et al. | β | 2020 | β |
| Ovine congenital progressive muscular dystrophy (OCPMD) is a model of TNNT1 congenital myopathy. | Clayton JS et al. | β | 2020 | β |
| Pairwise kinship testing with a combination of STR and SNP loci. | Zhang Q et al. | β | 2020 | β |
| PEA15 loss of function and defective cerebral development in the domestic cat. | Graff EC et al. | β | 2020 | β |
| Pedigree-Based Gene Mapping Supports Previous Loci and Reveals Novel Suggestive Loci in Specific Language Impairment. | Andres EM et al. | β | 2020 | β |
| Pseudouridylation defect due to <i>DKC1</i> and <i>NOP10</i> mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis. | Balogh E et al. | β | 2020 | β |
| Quantitative genome-wide association analyses of receptive language in the Danish High Risk and Resilience Study. | Nudel R et al. | β | 2020 | β |
| Scalable generalized linear mixed model for region-based association tests in large biobanks and cohorts. | Zhou W et al. | β | 2020 | β |
| Statistically efficient association analysis of quantitative traits with haplotypes and untyped SNPs in family studies. | Diao G et al. | β | 2020 | β |
| Transethnic meta-analysis of metabolic syndrome in a multiethnic study. | Willems EL et al. | β | 2020 | β |
| Using Haplotype Information for Conservation Genomics. | Leitwein M et al. | β | 2020 | β |
| Using linkage studies combined with whole-exome sequencing to identify novel candidate genes for familial colorectal cancer. | Toma C et al. | β | 2020 | β |
| Whole genome sequencing identifies a duplicated region encompassing Xq13.2q13.3 in a large Iranian family with intellectual disability. | Mehvari S et al. | β | 2020 | β |
| XAF1 as a modifier of p53 function and cancer susceptibility. | Pinto EM et al. | β | 2020 | β |
| A familial congenital heart disease with a possible multigenic origin involving a mutation in BMPR1A. | Demal TJ et al. | β | 2019 | β |
| A harlequin ichthyosis pig model with a novel ABCA12 mutation can be rescued by acitretin treatment. | Wang X et al. | β | 2019 | β |
| A homozygous SFTPA1 mutation drives necroptosis of type II alveolar epithelial cells in patients with idiopathic pulmonary fibrosis. | Takezaki A et al. | β | 2019 | β |
| A Missense Variant in <i>SCN8A</i> in Alpine Dachsbracke Dogs Affected by Spinocerebellar Ataxia. | Letko A et al. | β | 2019 | β |
| A New Pedigree-Based SNP Haplotype Method for Genomic Polymorphism and Genetic Studies. | Vadva Z et al. | β | 2019 | β |
| A novel WDR62 missense mutation in microcephaly with abnormal cortical architecture and review of the literature. | Zombor M et al. | β | 2019 | β |
| A QTL on chromosome 3q23 influences processing speed in humans. | Knowles EEM et al. | β | 2019 | β |
| A Rare Variant Nonparametric Linkage Method for Nuclear and Extended Pedigrees with Application to Late-Onset Alzheimer Disease via WGS Data. | Zhao L et al. | β | 2019 | β |
| Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia. | Cortese A et al. | β | 2019 | β |
| Biallelic mutation of human <i>SLC6A6</i> encoding the taurine transporter TAUT is linked to early retinal degeneration. | Preising MN et al. | β | 2019 | β |
| Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS. | Rafehi H et al. | β | 2019 | β |
| Combinatorial interactions of genetic variants in human cardiomyopathy. | Deacon DC et al. | β | 2019 | β |
| Combined linkage and association analysis identifies rare and low frequency variants for blood pressure at 1q31. | Wang H et al. | β | 2019 | β |
| Comparison and assessment of family- and population-based genotype imputation methods in large pedigrees. | Ullah E et al. | β | 2019 | β |
| COQ4 Mutation Leads to Childhood-Onset Ataxia Improved by CoQ10 Administration. | Caglayan AO et al. | β | 2019 | β |
| Correlations between relatives: From Mendelian theory to complete genome sequence. | Thompson EA | β | 2019 | β |
| Crossover interference and sex-specific genetic maps shape identical by descent sharing in close relatives. | Caballero M et al. | β | 2019 | β |
| DDX24 Mutations Associated With Malformations of Major Vessels to the Viscera. | Pang P et al. | β | 2019 | β |
| Decreased ACKR3 (CXCR7) function causes oculomotor synkinesis in mice and humans. | Whitman MC et al. | β | 2019 | β |
| Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice. | Pagnamenta AT et al. | β | 2019 | β |
| Detection of Large Structural Variants Causing Inherited Retinal Diseases. | Daiger SP et al. | β | 2019 | β |
| Exome genotyping and linkage analysis identifies two novel linked regions and replicates two others for myopia in Ashkenazi Jewish families. | Simpson CL et al. | β | 2019 | β |
| FactorialHMM: fast and exact inference in factorial hidden Markov models. | Schweiger R et al. | β | 2019 | β |
| FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice. | Schrauwen I et al. | β | 2019 | β |
| Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing. | Girard E et al. | β | 2019 | β |
| First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene. | OziΔbΕo D et al. | β | 2019 | β |
| Forensic genealogy-A comparison of methods to infer distant relationships based on dense SNP data. | Kling D et al. | β | 2019 | β |
| Genetic analysis of hsCRP in American Indians: The Strong Heart Family Study. | Best LG et al. | β | 2019 | β |
| Genotype Imputation in Genome-Wide Association Studies. | Naj AC | β | 2019 | β |
| Germline deletion of <i>ETV6</i> in familial acute lymphoblastic leukemia. | Rampersaud E et al. | β | 2019 | β |
| <i>AKNA</i> Frameshift Variant in Three Dogs with Recurrent Inflammatory Pulmonary Disease. | Hug P et al. | β | 2019 | β |
| Identification of a Novel Candidate Gene for Serrated Polyposis Syndrome Germline Predisposition by Performing Linkage Analysis Combined With Whole-Exome Sequencing. | Toma C et al. | β | 2019 | β |
| Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance. | Liaqat K et al. | β | 2019 | β |
| Identification of novel genetic variants predisposing to familial oral squamous cell carcinomas. | Huang Y et al. | β | 2019 | β |
| Identification of Rare Variants Predisposing to Thyroid Cancer. | Wang Y et al. | β | 2019 | β |
| Impact of constitutional TET2 haploinsufficiency on molecular and clinical phenotype in humans. | Kaasinen E et al. | β | 2019 | β |
| Increased frequency of rare missense PPP1R3B variants among Danish patients with type 2 diabetes. | Niazi RK et al. | β | 2019 | β |
| isqg: A Binary Framework for <i>in Silico</i> Quantitative Genetics. | Toledo FH et al. | β | 2019 | β |
| <i>ZCCHC8</i>, the nuclear exosome targeting component, is mutated in familial pulmonary fibrosis and is required for telomerase RNA maturation. | Gable DL et al. | β | 2019 | β |
| Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family. | Tey S et al. | β | 2019 | β |
| Linkage analysis revealed risk loci on 6p21 and 18p11.2-q11.2 in familial colon and rectal cancer, respectively. | von Holst S et al. | β | 2019 | β |
| Linkage and exome analysis implicate multiple genes in non-syndromic intellectual disability in a large Swedish family. | Lindholm CarlstrΓΆm E et al. | β | 2019 | β |
| Linkage Evidence for a Two-Locus Inheritance of LQT-Associated Seizures in a Multigenerational LQT Family With a Novel <i>KCNQ1</i> Loss-of-Function Mutation. | PrΓΌss H et al. | β | 2019 | β |
| Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease. | Sone J et al. | β | 2019 | β |
| Mendelian Inconsistent Signatures from 1314 Ancestrally Diverse Family Trios Distinguish Biological Variation from Sequencing Error. | Kothiyal P et al. | β | 2019 | β |
| NME5 frameshift variant in Alaskan Malamutes with primary ciliary dyskinesia. | Anderegg L et al. | β | 2019 | β |
| Novel heterozygous BPIFC variant in a Chinese pedigree with hereditary trichilemmal cysts. | Fu XG et al. | β | 2019 | β |
| Novel TMEM173 Mutation and the Role of Disease Modifying Alleles. | Keskitalo S et al. | β | 2019 | β |
| Novel Usher syndrome pathogenic variants identified in cases with hearing and vision loss. | Pater JA et al. | β | 2019 | β |
| p.Ser891Ala RET gene mutations in medullary thyroid cancer: Phenotypical and genealogical characterization of 28 apparently unrelated kindreds and founder effect uncovering in Northern Italy. | GiacchΓ© M et al. | β | 2019 | β |
| Rare variants and loci for age-related macular degeneration in the Ohio and Indiana Amish. | Waksmunski AR et al. | β | 2019 | β |
| Revisit Population-based and Family-based Genotype Imputation. | Liu CT et al. | β | 2019 | β |
| Small posterior fossa in Chiari I malformation affected families is significantly linked to 1q43-44 and 12q23-24.11 using whole exome sequencing. | Musolf AM et al. | β | 2019 | β |
| Statistical Methods and Software for Substance Use and Dependence Genetic Research. | Lan T et al. | β | 2019 | β |
| Synergistic Chemotherapy Drug Response Is a Genetic Trait in Lymphoblastoid Cell Lines. | Roell KR et al. | β | 2019 | β |
| The NLRP3 p.A441V Mutation in <i>NLRP3</i>-AID Pathogenesis: Functional Consequences, Phenotype-Genotype Correlations and Evidence for a Recurrent Mutational Event. | Awad F et al. | β | 2019 | β |
| TSEN54 missense variant in Standard Schnauzers with leukodystrophy. | StΓΆrk T et al. | β | 2019 | β |
| Uganda Genome Resource Enables Insights into Population History and Genomic Discovery in Africa. | Gurdasani D et al. | β | 2019 | β |
| Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly. | Ullah I et al. | β | 2019 | β |
| WGS-based telomere length analysis in Dutch family trios implicates stronger maternal inheritance and a role for RRM1 gene. | Nersisyan L et al. | β | 2019 | β |
| Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders. | Zeitz C et al. | β | 2019 | β |
| A 472-SNP panel for pairwise kinship testing of second-degree relatives. | Mo SK et al. | β | 2018 | β |
| Accurate Genotype Imputation in Multiparental Populations from Low-Coverage Sequence. | Zheng C et al. | β | 2018 | β |
| A combined linkage, microarray and exome analysis suggests MAP3K11 as a candidate gene for left ventricular hypertrophy. | Silva CT et al. | β | 2018 | β |
| A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73. | Eisenberger T et al. | β | 2018 | β |
| A Genome-Wide Linkage Study for Chronic Obstructive Pulmonary Disease in a Dutch Genetic Isolate Identifies Novel Rare Candidate Variants. | Nedeljkovic I et al. | β | 2018 | β |
| An epistatic effect of KRT25 on SP6 is involved in curly coat in horses. | Thomer A et al. | β | 2018 | β |
| An examination of multiple classes of rare variants in extended families with bipolar disorder. | Toma C et al. | β | 2018 | β |
| An Extended Twin-Pedigree Study of Neuroticism in the Netherlands Twin Register. | Boomsma DI et al. | β | 2018 | β |
| Application of genome analysis strategies in the clinical testing for pediatric diseases. | Jin Y et al. | β | 2018 | β |
| Applying polygenic risk scoring for psychiatric disorders to a large family with bipolar disorder and major depressive disorder. | de Jong S et al. | β | 2018 | β |
| A rare missense variant in RCL1 segregates with depression in extended families. | Amin N et al. | β | 2018 | β |
| Arsenic-gene interactions and beta-cell function in the Strong Heart Family Study. | Balakrishnan P et al. | β | 2018 | β |
| Association of modifiers and other genetic factors explain Marfan syndrome clinical variability. | Aubart M et al. | β | 2018 | β |
| Basonuclin 1 deficiency is a cause of primary ovarian insufficiency. | Zhang D et al. | β | 2018 | β |
| Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function. | Mendoza-Ferreira N et al. | β | 2018 | β |
| Biallelic missense variants in ZBTB11 can cause intellectual disability in humans. | Fattahi Z et al. | β | 2018 | β |
| Characterization of a novel MYO3A missense mutation associated with a dominant form of late onset hearing loss. | Dantas VGL et al. | β | 2018 | β |
| COL18A1 is a candidate eye iridocorneal angle-closure gene in humans. | Suri F et al. | β | 2018 | β |
| Combined linkage and association analysis of classical Hodgkin lymphoma. | Lawrie A et al. | β | 2018 | β |
| Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases. | Iglesias AI et al. | β | 2018 | β |
| Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency. | Kong XF et al. | β | 2018 | β |
| Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4. | Liskova P et al. | β | 2018 | β |
| Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. | Zhou W et al. | β | 2018 | β |
| Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees. | Jun G et al. | β | 2018 | β |
| Exome sequencing in large, multiplex bipolar disorder families from Cuba. | Maaser A et al. | β | 2018 | β |
| Exome sequencing of a large family identifies potential candidate genes contributing risk to bipolar disorder. | Zhang T et al. | β | 2018 | β |
| Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene. | Yin XM et al. | β | 2018 | β |
| Family-Based Genome-Wide Association Study of South Indian Pedigrees Supports WNT7B as a Central Corneal Thickness Locus. | Fan BJ et al. | β | 2018 | β |
| FUT2 Variants Confer Susceptibility to Familial Otitis Media. | Santos-Cortez RLP et al. | β | 2018 | β |
| Gene expression and linkage analysis implicate CBLB as a mediator of rituximab resistance. | Jack J et al. | β | 2018 | β |
| Genetic variants, structural, and functional changes of Myelin Protein Zero and Mannose-Binding Lectin 2 protein involved in immune response and its allelic transmission in families of patients with leprosy in Colombia. | Cardona-Pemberthy V et al. | β | 2018 | β |
| Genetic variation of SORBS1 gene is associated with glucose homeostasis and age at onset of diabetes: A SAPPHIRe Cohort Study. | Chang TJ et al. | β | 2018 | β |
| Genome-wide association study in 176,678 Europeans reveals genetic loci for tanning response to sun exposure. | Visconti A et al. | β | 2018 | β |
| GIGI-Quick: a fast approach to impute missing genotypes in genome-wide association family data. | Kunji K et al. | β | 2018 | β |
| Homozygous splicing mutation in NUP133 causes Galloway-Mowat syndrome. | Fujita A et al. | β | 2018 | β |
| Human IFN-Ξ³ immunity to mycobacteria is governed by both IL-12 and IL-23. | MartΓnez-Barricarte R et al. | β | 2018 | β |
| Identification of 55,000 Replicated DNA Methylation QTL. | McRae AF et al. | β | 2018 | β |
| Improving eQTL Analysis Using a Machine Learning Approach for Data Integration: A Logistic Model Tree Solution. | Beretta S et al. | β | 2018 | β |
| Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection. | Zhang SY et al. | β | 2018 | β |
| Integrated genome sizing (IGS) approach for the parallelization of whole genome analysis. | Sona P et al. | β | 2018 | β |
| IRF4 haploinsufficiency in a family with Whipple's disease. | GuΓ©rin A et al. | β | 2018 | β |
| LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies: a genome-wide linkage and sequencing study. | Quadri M et al. | β | 2018 | β |
| Microdeletion on chromosome 8p23.1 in a familial form of severe Buruli ulcer. | Vincent QB et al. | β | 2018 | β |
| Mutations in bassoon in individuals with familial and sporadic progressive supranuclear palsy-like syndrome. | Yabe I et al. | β | 2018 | β |
| Mutations in MICAL-1cause autosomal-dominant lateral temporal epilepsy. | Dazzo E et al. | β | 2018 | β |
| Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects. | Seong E et al. | β | 2018 | β |
| Myopia in Chinese families shows linkage to 10q26.13. | Musolf AM et al. | β | 2018 | β |
| No novel, high penetrant gene might remain to be found in Japanese patients with unknown MODY. | Horikawa Y et al. | β | 2018 | β |
| Novel caries loci in children and adults implicated by genome-wide analysis of families. | Govil M et al. | β | 2018 | β |
| Novel missense and 3'-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairment. | Liaqat K et al. | β | 2018 | β |
| ONETOOL for the analysis of family-based big data. | Song YE et al. | β | 2018 | β |
| Rare coding variant analysis in a large cohort of Ashkenazi Jewish families with inflammatory bowel disease. | Schiff ER et al. | β | 2018 | β |
| Rare genetic variation implicated in non-Hispanic white families with Alzheimer disease. | Beecham GW et al. | β | 2018 | β |
| Rare <i>ABCA7</i> variants in 2 German families with Alzheimer disease. | May P et al. | β | 2018 | β |
| Strategies for phasing and imputation in a population isolate. | Herzig AF et al. | β | 2018 | β |
| The human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic immunity to Ξ²-papillomaviruses. | de Jong SJ et al. | β | 2018 | β |
| TriPoly: haplotype estimation for polyploids using sequencing data of related individuals. | Motazedi E et al. | β | 2018 | β |
| Type 1 diabetes susceptibility alleles are associated with distinct alterations in the gut microbiota. | Mullaney JA et al. | β | 2018 | β |
| Whole-Genome Linkage Scan Combined With Exome Sequencing Identifies Novel Candidate Genes for Carotid Intima-Media Thickness. | Vojinovic D et al. | β | 2018 | β |
| Accurate phenotyping: Reconciling approaches through Bayesian model averaging. | Chen CC et al. | β | 2017 | β |
| A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula. | Khan AO et al. | β | 2017 | β |
| A de novo missense mutation of FGFR2 causes facial dysplasia syndrome in Holstein cattle. | Agerholm JS et al. | β | 2017 | β |
| A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy. | Zazo Seco C et al. | β | 2017 | β |
| A hybrid method for the imputation of genomic data in livestock populations. | AntolΓn R et al. | β | 2017 | β |
| A large family with inherited optic disc anomalies: a correlation between a new genetic locus and complex ocular phenotypes. | Wang D et al. | β | 2017 | β |
| A Missense Variant in <i>KCNJ10</i> in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA1). | Mauri N et al. | β | 2017 | β |
| A Nonsense Variant in the <i>ST14</i> Gene in Akhal-Teke Horses with Naked Foal Syndrome. | Bauer A et al. | β | 2017 | β |
| A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia. | Seixas AI et al. | β | 2017 | β |
| A Pragmatic Test for Detecting Association between a Dichotomous Trait and the Genotypes of Affected Families, Controls and Independent Cases. | Wang M et al. | β | 2017 | β |
| A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree. | Eberle MA et al. | β | 2017 | β |
| A SINE Insertion in <i>ATP1B2</i> in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA2). | Mauri N et al. | β | 2017 | β |
| Association of Cardiometabolic Genes with Arsenic Metabolism Biomarkers in American Indian Communities: The Strong Heart Family Study (SHFS). | Balakrishnan P et al. | β | 2017 | β |
| A strategy to improve phasing of whole-genome sequenced individuals through integration of familial information from dense genotype panels. | Faux P et al. | β | 2017 | β |
| Biallelic mutation of UNC50, encoding a protein involved in AChR trafficking, is responsible for arthrogryposis. | Abiusi E et al. | β | 2017 | β |
| BRCA1 p.His1673del is a pathogenic mutation associated with a predominant ovarian cancer phenotype. | Zuntini R et al. | β | 2017 | β |
| Caucasian Families Exhibit Significant Linkage of Myopia to Chromosome 11p. | Musolf AM et al. | β | 2017 | β |
| CELSR2 is a candidate susceptibility gene in idiopathic scoliosis. | Einarsdottir E et al. | β | 2017 | β |
| Combined approach for finding susceptibility genes in DISH/chondrocalcinosis families: whole-genome-wide linkage and IBS/IBD studies. | Couto AR et al. | β | 2017 | β |
| Composite likelihood method for inferring local pedigrees. | Ko A et al. | β | 2017 | β |
| Comprehensive candidate gene analysis for symptomatic or asymptomatic outcomes of Leishmania infantum infection in Brazil. | Weirather JL et al. | β | 2017 | β |
| DNA Commission of the International Society for Forensic Genetics (ISFG): Guidelines on the use of X-STRs in kinship analysis. | Tillmar AO et al. | β | 2017 | β |
| dUTPase (<i>DUT</i>) Is Mutated in a Novel Monogenic Syndrome With Diabetes and Bone Marrow Failure. | Dos Santos RS et al. | β | 2017 | β |
| Evaluation of the impact of genetic linkage in forensic identity and relationship testing for expanded DNA marker sets. | Tillmar AO et al. | β | 2017 | β |
| Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia. | Schubert SA et al. | β | 2017 | β |
| Evolutionary Proteomics Uncovers Ancient Associations of Cilia with Signaling Pathways. | Sigg MA et al. | β | 2017 | β |
| Exome array analysis suggests an increased variant burden in families with schizophrenia. | McCarthy NS et al. | β | 2017 | β |
| Exome sequences of multiplex, multigenerational families reveal schizophrenia risk loci with potential implications for neurocognitive performance. | Kos MZ et al. | β | 2017 | β |
| Exome Sequencing of Extended Families with Alzheimer's Disease Identifies Novel Genes Implicated in Cell Immunity and Neuronal Function. | Cukier HN et al. | β | 2017 | β |
| Exome sequencing provides additional evidence for the involvement of ARHGAP29 in Mendelian orofacial clefting and extends the phenotypic spectrum to isolated cleft palate. | Liu H et al. | β | 2017 | β |
| Expanding the phenotypic spectrum associated with mutations of DYNC1H1. | Beecroft SJ et al. | β | 2017 | β |
| Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations. | Corbett MA et al. | β | 2017 | β |
| Genetic and Environmental Influences on General Skin Traits: Healthy Twins and Families in Korea. | Suh YJ et al. | β | 2017 | β |
| Genetic variants in <i>ADAMTS13</i> as well as smoking are major determinants of plasma ADAMTS13 levels. | Ma Q et al. | β | 2017 | β |
| Genome-Wide Association Shows thatΒ Pigmentation Genes Play a Role in SkinΒ Aging. | Law MH et al. | β | 2017 | β |
| Genome-wide Association Study of Parental Life Span. | Tanaka T et al. | β | 2017 | β |
| Genome-wide association study of working memory brain activation. | Blokland GAM et al. | β | 2017 | β |
| Genome-wide linkage and association study implicates the 10q26 region as a major genetic contributor to primary nonsyndromic vesicoureteric reflux. | Darlow JM et al. | β | 2017 | β |
| Genome-wide linkage and haplotype sharing analysis implicates the MCDR3 locus as a candidate region for a developmental macular disorder in association with digit abnormalities. | Cipriani V et al. | β | 2017 | β |
| Germline compound heterozygous poly-glutamine deletion in USF3 may be involved in predisposition to heritable and sporadic epithelial thyroid carcinoma. | Ni Y et al. | β | 2017 | β |
| GW-SEM: A Statistical Package to Conduct Genome-Wide Structural Equation Modeling. | Verhulst B et al. | β | 2017 | β |
| HaploForge: a comprehensive pedigree drawing and haplotype visualization web application. | Tekman M et al. | β | 2017 | β |
| Haplotype Inference. | Song S et al. | β | 2017 | β |
| Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance. | Patel KA et al. | β | 2017 | β |
| Human Adaptive Immunity Rescues an Inborn Error of Innate Immunity. | Israel L et al. | β | 2017 | β |
| Identification of ASAH1 as a susceptibility gene for familial keloids. | Santos-Cortez RLP et al. | β | 2017 | β |
| Identification of Genotype Errors. | O'Connell J et al. | β | 2017 | β |
| Identification of NCAN as a candidate gene for developmental dyslexia. | Einarsdottir E et al. | β | 2017 | β |
| <i>MYH7</i> Rare Variant in a Family With Double-Chambered Left Ventricle. | Wang J et al. | β | 2017 | β |
| Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor <i>DONSON</i> as the cause of microcephaly-micromelia syndrome. | Evrony GD et al. | β | 2017 | β |
| IPED2: Inheritance Path Based Pedigree Reconstruction Algorithm for Complicated Pedigrees. | He D et al. | β | 2017 | β |
| Leveraging genome characteristics to improve gene discovery for putamen subcortical brain structure. | Chen CH et al. | β | 2017 | β |
| Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita. | Xue S et al. | β | 2017 | β |
| Model-Free Linkage Analysis of a Binary Trait. | Xu W et al. | β | 2017 | β |
| Model-Free Linkage Analysis of a Quantitative Trait. | Morris NJ et al. | β | 2017 | β |
| Multidimensional Integrative Genomics Approaches to Dissecting Cardiovascular Disease. | Arneson D et al. | β | 2017 | β |
| Multiple rare genetic variants co-segregating with familial IgA nephropathy all act within a single immune-related network. | Cox SN et al. | β | 2017 | β |
| Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis. | Smith BN et al. | β | 2017 | β |
| Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability. | van der Werf IM et al. | β | 2017 | β |
| Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability. | Musante L et al. | β | 2017 | β |
| OCA2 splice site variant in German Spitz dogs with oculocutaneous albinism. | Caduff M et al. | β | 2017 | β |
| PopPAnTe: population and pedigree association testing for quantitative data. | Visconti A et al. | β | 2017 | β |
| Population- and individual-specific regulatory variation in Sardinia. | Pala M et al. | β | 2017 | β |
| Rare variants in fox-1 homolog A (RBFOX1) are associated with lower blood pressure. | He KY et al. | β | 2017 | β |
| Rules for resolving Mendelian inconsistencies in nuclear pedigrees typed for two-allele markers. | Khan SA et al. | β | 2017 | β |
| Santos syndrome is caused by mutation in the WNT7A gene. | Alves LU et al. | β | 2017 | β |
| Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families. | Shah K et al. | β | 2017 | β |
| Sex-specific linkage scans in opioid dependence. | Yang BZ et al. | β | 2017 | β |
| Siccuracy: An R-package for executing genotype imputation strategy simulations with AlphaImpute | Edwards SM | β | 2017 | β |
| SLC13A5 is the second gene associated with KohlschΓΌtter-TΓΆnz syndrome. | Schossig A et al. | β | 2017 | β |
| The DCDC2 deletion is not a risk factor for dyslexia. | Scerri TS et al. | β | 2017 | β |
| The phenotypic spectrum of ARHGEF9 includes intellectual disability, focal epilepsy and febrile seizures. | Klein KM et al. | β | 2017 | β |
| Variable phenotypic expression and onset in MYH14 distal hereditary motor neuropathy phenotype in a large, multigenerational North American family. | Iyadurai S et al. | β | 2017 | β |
| Whole-exome sequencing identifies a potential TTN mutation in a multiplex family with inguinal hernia. | Mihailov E et al. | β | 2017 | β |
| Whole-Exome Sequencing Identifies the 6q12-q16 Linkage Region and a Candidate Gene, TTK, for Pulmonary Nontuberculous Mycobacterial Disease. | Chen F et al. | β | 2017 | β |
| Whole exome sequencing in 75 high-risk families with validation and replication in independent case-control studies identifies TANGO2, OR5H14, and CHAD as new prostate cancer susceptibility genes. | Karyadi DM et al. | β | 2017 | β |
| A CHRNB1 frameshift mutation is associated with familial arthrogryposis multiplex congenita in Red dairy cattle. | Agerholm JS et al. | β | 2016 | β |
| A COL17A1 Splice-Altering Mutation Is Prevalent in Inherited Recurrent Corneal Erosions. | Oliver VF et al. | β | 2016 | β |
| A Combined Linkage and Exome Sequencing Analysis for Electrocardiogram Parameters in the Erasmus Rucphen Family Study. | Silva CT et al. | β | 2016 | β |
| A founder mutation p.H701P identified as a major cause of SPG7 in Norway. | Rydning SL et al. | β | 2016 | β |
| A Genome-Wide SNP Linkage Analysis Suggests a Susceptibility Locus on 6p21 for Ankylosing Spondylitis and Inflammatory Back Pain Trait. | Zhang Y et al. | β | 2016 | β |
| A homozygous loss-of-function mutation in inositol monophosphatase 1 (IMPA1) causes severe intellectual disability. | Figueiredo T et al. | β | 2016 | β |
| A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency. | Jabara HH et al. | β | 2016 | β |
| An efficient gene-gene interaction test for genome-wide association studies in trio families. | Sung PY et al. | β | 2016 | β |
| A non-sense MCM9 mutation in a familial case of primary ovarian insufficiency. | Fauchereau F et al. | β | 2016 | β |
| A novel heterozygous mutation in cardiac calsequestrin causes autosomal dominant catecholaminergic polymorphic ventricular tachycardia. | Gray B et al. | β | 2016 | β |
| A Pedigree-Based Map of Recombination in the Domestic Dog Genome. | Campbell CL et al. | β | 2016 | β |
| A powerful test of independent assortment that determines genome-wide significance quickly and accurately. | Stewart WC et al. | β | 2016 | β |
| Association of CD247 (CD3ΞΆ) gene polymorphisms with T1D and AITD in the population of northern Sweden. | Holmberg D et al. | β | 2016 | β |
| Autosomal dominant epilepsy with auditory features: a new LGI1 family including a phenocopy with cortical dysplasia. | Klein KM et al. | β | 2016 | β |
| Autosomal dominant hereditary spastic paraplegia with axonal sensory motor polyneuropathy maps to chromosome 21q 22.3. | Peddareddygari LR et al. | β | 2016 | β |
| Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia. | Schlingmann KP et al. | β | 2016 | β |
| Bias Characterization in Probabilistic Genotype Data and Improved Signal Detection with Multiple Imputation. | Palmer C et al. | β | 2016 | β |
| Can whole-exome sequencing data be used for linkage analysis? | Gazal S et al. | β | 2016 | β |
| Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC. | Avila-Smirnow D et al. | β | 2016 | β |
| Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular Noncompaction. | Hastings R et al. | β | 2016 | β |
| Comments on "Kinship analysis: assessment of related vs unrelated based on defined pedigrees" by S. Turrina et al. | Tillmar AO et al. | β | 2016 | β |
| Comparison of 2 models for gene-environment interactions: an example of simulated gene-medication interactions on systolic blood pressure in family-based data. | FernΓ‘ndez-Rhodes L et al. | β | 2016 | β |
| Comparison of Heritability Estimation and Linkage Analysis for Multiple Traits Using Principal Component Analyses. | Liang J et al. | β | 2016 | β |
| Creative Activities in Music--A Genome-Wide Linkage Analysis. | Oikkonen J et al. | β | 2016 | β |
| DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease. | Olgiati S et al. | β | 2016 | β |
| DNM3 and genetic modifiers of age of onset in LRRK2 Gly2019Ser parkinsonism: a genome-wide linkage and association study. | Trinh J et al. | β | 2016 | β |
| Dysfunction of the Voltage-Gated K+ Channel Ξ²2 Subunit in a Familial Case of Brugada Syndrome. | Portero V et al. | β | 2016 | β |
| Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number. | Lyons JJ et al. | β | 2016 | β |
| Endometrial vezatin and its association with endometriosis risk. | Holdsworth-Carson SJ et al. | β | 2016 | β |
| Epistatic interactions between at least three loci determine the "rat-tail" phenotype in cattle. | Knaust J et al. | β | 2016 | β |
| Evidence for genetic regulation of the human parieto-occipital 10-Hz rhythmic activity. | Salmela E et al. | β | 2016 | β |
| Exome Sequence Data From Multigenerational Families Implicate AMPA Receptor Trafficking in Neurocognitive Impairment and Schizophrenia Risk. | Kos MZ et al. | β | 2016 | β |
| Exome Sequencing and Gene Prioritization Correct Misdiagnosis in a Chinese Kindred with Familial Amyloid Polyneuropathy. | Chen H et al. | β | 2016 | β |
| Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy. | Evers C et al. | β | 2016 | β |
| Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability. | Ansar M et al. | β | 2016 | β |
| Expressional profiling of prostate cancer risk SNPs at 11q13.5 identifies DGAT2 as a new target gene. | Nurminen R et al. | β | 2016 | β |
| Family-based approaches: design, imputation, analysis, and beyond. | Wijsman EM | β | 2016 | β |
| FamPipe: An Automatic Analysis Pipeline for Analyzing Sequencing Data in Families for Disease Studies. | Chung RH et al. | β | 2016 | β |
| Fine mapping under linkage peaks for symptomatic or asymptomatic outcomes of Leishmania infantum infection in Brazil. | Weirather JL et al. | β | 2016 | β |
| Further evidence for a parent-of-origin effect at the NOP9 locus on language-related phenotypes. | Pettigrew KA et al. | β | 2016 | β |
| Genetic assessment of additional endophenotypes from the Consortium on the Genetics of Schizophrenia Family Study. | Greenwood TA et al. | β | 2016 | β |
| Genetic association of left ventricular mass assessed by M-mode and two-dimensional echocardiography. | Barve RA et al. | β | 2016 | β |
| Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech. | Peter B et al. | β | 2016 | β |
| Genetic Complexity of Crohn's Disease in Two Large Ashkenazi Jewish Families. | Levine AP et al. | β | 2016 | β |
| Genetic determinants of cardiometabolic risk factors in rural families in Brazil. | Pena GG et al. | β | 2016 | β |
| Genetic linkage studies of a North Carolina macular dystrophy family. | Audere M et al. | β | 2016 | β |
| Genetic loci for Epstein-Barr virus nuclear antigen-1 are associated with risk of multiple sclerosis. | Zhou Y et al. | β | 2016 | β |
| Genome-wide association study of antibody responses to Plasmodium falciparum candidate vaccine antigens. | Milet J et al. | β | 2016 | β |
| Genome-wide linkage analyses of non-Hispanic white families identify novel loci for familial late-onset Alzheimer's disease. | Kunkle BW et al. | β | 2016 | β |
| Genome-wide significant loci for addiction and anxiety. | Hodgson K et al. | β | 2016 | β |
| Genome-wide significant results identified for plasma apolipoprotein H levels in middle-aged and older adults. | Mather KA et al. | β | 2016 | β |
| Genome-wide studies of von Willebrand factor propeptide identify loci contributing to variation in propeptide levels and von Willebrand factor clearance. | Ozel AB et al. | β | 2016 | β |
| GWAS and transcriptional analysis prioritize ITPR1 and CNTN4 for a serum uric acid 3p26 QTL in Mexican Americans. | Chittoor G et al. | β | 2016 | β |
| Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia. | Bolar NA et al. | β | 2016 | β |
| Imputing rare variants in families using a two-stage approach. | Lent S et al. | β | 2016 | β |
| International Genome-Wide Association Study Consortium Identifies Novel Loci Associated With Blood Pressure in Children and Adolescents. | Parmar PG et al. | β | 2016 | β |
| Lethal chondrodysplasia in a family of Holstein cattle is associated with a de novo splice site variant of COL2A1. | Agerholm JS et al. | β | 2016 | β |
| Linear mixed model for heritability estimation that explicitly addresses environmental variation. | Heckerman D et al. | β | 2016 | β |
| Linkage Analysis of High-density SNPs Confirms Keratoconus Locus at 5q Chromosomal Region. | Bykhovskaya Y et al. | β | 2016 | β |
| Linkage and association analysis of ADHD endophenotypes in extended and multigenerational pedigrees from a genetic isolate. | Mastronardi CA et al. | β | 2016 | β |
| Linkage and related analyses of Barrett's esophagus and its associated adenocarcinomas. | Sun X et al. | β | 2016 | β |
| Meta-analysis of genome-wide association studies discovers multiple loci for chronic lymphocytic leukemia. | Berndt SI et al. | β | 2016 | β |
| Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP. | Shah K et al. | β | 2016 | β |
| Mixtures with relatives and linked markers. | DΓΈrum G et al. | β | 2016 | β |
| Multipoint genome-wide linkage scan for nonword repetition in a multigenerational family further supports chromosome 13q as a locus for verbal trait disorders. | Truong DT et al. | β | 2016 | β |
| Multivariate Gene-Based Association Test on Family Data in MGAS. | Vroom CR et al. | β | 2016 | β |
| Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis. | Maluenda J et al. | β | 2016 | β |
| Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features. | Ouyang Q et al. | β | 2016 | β |
| Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts. | Jenkinson EM et al. | β | 2016 | β |
| Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy. | Ricos MG et al. | β | 2016 | β |
| Next-generation genotype imputation service and methods. | Das S et al. | β | 2016 | β |
| Novel frameshift variant in gene SALL4 causing Okihiro syndrome. | Alves LU et al. | β | 2016 | β |
| Novel Locus for Paroxysmal Kinesigenic Dyskinesia Mapped to Chromosome 3q28-29. | Liu D et al. | β | 2016 | β |
| OBSESSIVE-COMPULSIVE PERSONALITY DISORDER: EVIDENCE FOR TWO DIMENSIONS. | Riddle MA et al. | β | 2016 | β |
| On the use of dense SNP marker data for the identification of distant relative pairs. | Sun M et al. | β | 2016 | β |
| Parametric Linkage Analysis Identifies Five Novel Genome-Wide Significant Loci for Familial Lung Cancer. | Musolf AM et al. | β | 2016 | β |
| Performance of genomic prediction within and across generations in maritime pine. | BartholomΓ© J et al. | β | 2016 | β |
| Potential of 13 linked autosomal short tandem repeat loci in pairwise kinship analysis. | Liu QL et al. | β | 2016 | β |
| qKAT: a high-throughput qPCR method for KIR gene copy number and haplotype determination. | Jiang W et al. | β | 2016 | β |
| Radon Exposure, IL-6 Promoter Variants, and Lung Squamous Cell Carcinoma in Former Uranium Miners. | Leng S et al. | β | 2016 | β |
| Recurrent major depression and right hippocampal volume: A bivariate linkage and association study. | Mathias SR et al. | β | 2016 | β |
| Recurrent mutation in the crystallin alpha A gene associated with inherited paediatric cataract. | Javadiyan S et al. | β | 2016 | β |
| Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency. | Montalbano A et al. | β | 2016 | β |
| Segregation of a rare TTC3 variant in an extended family with late-onset Alzheimer disease. | Kohli MA et al. | β | 2016 | β |
| Shared genetic control of expression and methylation in peripheral blood. | Shakhbazov K et al. | β | 2016 | β |
| Special issue on New Developments in Relatedness and Relationship Estimation. | Cussens J et al. | β | 2016 | β |
| Testing Allele Transmission of an SNP Set Using a Family-Based Generalized Genetic Random Field Method. | Li M et al. | β | 2016 | β |
| The Arg59Trp variant in ANGPTL8 (betatrophin) is associated with total and HDL-cholesterol in American Indians and Mexican Americans and differentially affects cleavage of ANGPTL3. | Hanson RL et al. | β | 2016 | β |
| The disruption of a novel limb cis-regulatory element of SHH is associated with autosomal dominant preaxial polydactyly-hypertrichosis. | Petit F et al. | β | 2016 | β |
| The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations. | Janecke AR et al. | β | 2016 | β |
| Variants in angiopoietin-2 (ANGPT2) contribute to variation in nocturnal oxyhaemoglobin saturation level. | Wang H et al. | β | 2016 | β |
| Whole-exome sequencing identifies <i>ADRA2A</i> mutation in atypical familial partial lipodystrophy. | Garg A et al. | β | 2016 | β |
| Whole Exome Sequencing Reveals a Mutation in CRYBB2 in a Large Mexican Family with Autosomal Dominant Pulverulent Cataract. | Messina-Baas O et al. | β | 2016 | β |
| Whole-exome sequencing to analyze population structure, parental inbreeding, and familial linkage. | Belkadi A et al. | β | 2016 | β |
| Whole Genome Sequencing Identifies a Missense Mutation in HES7 Associated with Short Tails in Asian Domestic Cats. | Xu X et al. | β | 2016 | β |
| Whole-genome single nucleotide polymorphism-based linkage analysis in spondyloarthritis multiplex families reveals a new susceptibility locus in 13q13. | Costantino F et al. | β | 2016 | β |
| 2014 Curt Stern Award: Adventures in human genetics. | Abecasis GR | β | 2015 | β |
| A CASQ1 founder mutation in three Italian families with protein aggregate myopathy and hyperCKaemia. | Di Blasi C et al. | β | 2015 | β |
| A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability. | Larti F et al. | β | 2015 | β |
| A de novo mutation of the MYH7 gene in a large Chinese family with autosomal dominant myopathy. | Oda T et al. | β | 2015 | β |
| A family-specific linkage analysis of blood lipid response to fenofibrate in the Genetics of Lipid Lowering Drug and Diet Network. | Hidalgo B et al. | β | 2015 | β |
| A general model for likelihood computations of genetic marker data accounting for linkage, linkage disequilibrium, and mutations. | Kling D et al. | β | 2015 | β |
| A genome-wide sib-pair scan for quantitative language traits reveals linkage to chromosomes 10 and 13. | Evans PD et al. | β | 2015 | β |
| A germline mutation in SRRM2, a splicing factor gene, is implicated in papillary thyroid carcinoma predisposition. | Tomsic J et al. | β | 2015 | β |
| Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. | Coutelier M et al. | β | 2015 | β |
| A missense change in the ATG4D gene links aberrant autophagy to a neurodegenerative vacuolar storage disease. | KyΓΆstilΓ€ K et al. | β | 2015 | β |
| A Nonsense Variant in COL6A1 in Landseer Dogs with Muscular Dystrophy. | Steffen F et al. | β | 2015 | β |
| A novel CRX mutation by whole-exome sequencing in an autosomal dominant cone-rod dystrophy pedigree. | Lu QK et al. | β | 2015 | β |
| A Novel Locus for Ectodermal Dysplasia of Hair, Nail and Skin Pigmentation Anomalies Maps to Chromosome 18p11.32-p11.31. | Habib R et al. | β | 2015 | β |
| A novel single nucleotide splice site mutation in FHL1 confirms an Emery-Dreifuss plus phenotype with pulmonary artery hypoplasia and facial dysmorphology. | Pen AE et al. | β | 2015 | β |
| A RAB3GAP1 SINE Insertion in Alaskan Huskies with Polyneuropathy, Ocular Abnormalities, and Neuronal Vacuolation (POANV) Resembling Human Warburg Micro Syndrome 1 (WARBM1). | Wiedmer M et al. | β | 2015 | β |
| A significant risk locus on 19q13 for bipolar disorder identified using a combined genome-wide linkage and copy number variation analysis. | Lekman M et al. | β | 2015 | β |
| Association between TLR2 and TLR4 Gene Polymorphisms and the Susceptibility to Inflammatory Bowel Disease: A Meta-Analysis. | Cheng Y et al. | β | 2015 | β |
| Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family. | Zukosky K et al. | β | 2015 | β |
| Association study of the SLITRK5 gene and Tourette syndrome. | Zhang K et al. | β | 2015 | β |
| A statistical approach for rare-variant association testing in affected sibships. | Epstein MP et al. | β | 2015 | β |
| A Systematic Comparison of Traditional and Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Genes in More Than 1000 Patients. | Lincoln SE et al. | β | 2015 | β |
| Biochemical Basis for Dominant Inheritance, Variable Penetrance, and Maternal Effects in RBP4 Congenital Eye Disease. | Chou CM et al. | β | 2015 | β |
| Challenges and solutions for gene identification in the presence of familial locus heterogeneity. | Rehman AU et al. | β | 2015 | β |
| CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study. | Funayama M et al. | β | 2015 | β |
| Collapsed haplotype pattern method for linkage analysis of next-generation sequence data. | Wang GT et al. | β | 2015 | β |
| Combinatorial Conflicting Homozygosity (CCH) analysis enables the rapid identification of shared genomic regions in the presence of multiple phenocopies. | Levine AP et al. | β | 2015 | β |
| Common genetic variants influence human subcortical brain structures. | Hibar DP et al. | β | 2015 | β |
| Common polygenic variation contributes to risk of migraine in the Norfolk Island population. | Rodriguez-Acevedo AJ et al. | β | 2015 | β |
| Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss. | Marsh AP et al. | β | 2015 | β |
| Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy. | Ruggieri A et al. | β | 2015 | β |
| Compound heterozygous NOTCH1 mutations underlie impaired cardiogenesis in a patient with hypoplastic left heart syndrome. | Theis JL et al. | β | 2015 | β |
| Concurrent whole-genome haplotyping and copy-number profiling of single cells. | Zamani Esteki M et al. | β | 2015 | β |
| CYP17A1 and Blood Pressure Reactivity to Stress in Adolescence. | Van Woudenberg M et al. | β | 2015 | β |
| DCAF4, a novel gene associated with leucocyte telomere length. | Mangino M et al. | β | 2015 | β |
| eQTL mapping identifies insertion- and deletion-specific eQTLs in multiple tissues. | Huang J et al. | β | 2015 | β |
| Escape from crossover interference increases with maternal age. | Campbell CL et al. | β | 2015 | β |
| Exome sequencing identifies a novel CEACAM16 mutation associated with autosomal dominant nonsyndromic hearing loss DFNA4B in a Chinese family. | Wang H et al. | β | 2015 | β |
| Exome sequencing in an admixed isolated population indicates NFXL1 variants confer a risk for specific language impairment. | Villanueva P et al. | β | 2015 | β |
| Exome sequencing of 75 individuals from multiply affected coeliac families and large scale resequencing follow up. | Mistry V et al. | β | 2015 | β |
| Exploring the role and diversity of mucins in health and disease with special insight into non-communicable diseases. | Behera SK et al. | β | 2015 | β |
| Expression analysis in intestinal mucosa reveals complex relations among genes under the association peaks in celiac disease. | Plaza-Izurieta L et al. | β | 2015 | β |
| Factors influencing success of clinical genome sequencing across a broad spectrum of disorders. | Taylor JC et al. | β | 2015 | β |
| Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5. | Scerri T et al. | β | 2015 | β |
| Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia. | Lossos A et al. | β | 2015 | β |
| Fine mapping the <i>CETP</i> region reveals a common intronic insertion associated to HDL-C. | van Leeuwen EM et al. | β | 2015 | β |
| Genetic and environmental factors in conjunctival UV autofluorescence. | Yazar S et al. | β | 2015 | β |
| Genetic associations and shared environmental effects on the skin microbiome of Korean twins. | Si J et al. | β | 2015 | β |
| Genetic linkage analysis in the age of whole-genome sequencing. | Ott J et al. | β | 2015 | β |
| Genetics of kidney disease and related cardiometabolic phenotypes in Zuni Indians: the Zuni Kidney Project. | Laston SL et al. | β | 2015 | β |
| Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up. | Liu F et al. | β | 2015 | β |
| Genetic variants associated with susceptibility to psychosis inΒ late-onset Alzheimer's disease families. | Barral S et al. | β | 2015 | β |
| GenomeLaser: fast and accurate haplotyping from pedigree genotypes. | Li W et al. | β | 2015 | β |
| Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers. | Sidore C et al. | β | 2015 | β |
| Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels. | Danjou F et al. | β | 2015 | β |
| Genome-wide Association Analysis of Psoriatic Arthritis and Cutaneous Psoriasis Reveals Differences in Their Genetic Architecture. | Stuart PE et al. | β | 2015 | β |
| Genome-wide association study of blood lead shows multiple associations near ALAD. | Warrington NM et al. | β | 2015 | β |
| Genome-wide gene pathway analysis of psychotic illness symptom dimensions based on a new schizophrenia-specific model of the OPCRIT. | Docherty AR et al. | β | 2015 | β |
| Genome-wide scan demonstrates significant linkage for male sexual orientation. | Sanders AR et al. | β | 2015 | β |
| Genome-wide significant linkage to IgG subclass responses against Plasmodium falciparum antigens on chromosomes 8p22-p21, 9q34 and 20q13. | Brisebarre A et al. | β | 2015 | β |
| Genomic and transcriptomic predictors of triglyceride response to regular exercise. | Sarzynski MA et al. | β | 2015 | β |
| Genotype-Based Score Test for Association Testing in Families. | Uh HW et al. | β | 2015 | β |
| Hairless Streaks in Cattle Implicate TSR2 in Early Hair Follicle Formation. | Murgiano L et al. | β | 2015 | β |
| Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia. | Freischmidt A et al. | β | 2015 | β |
| Height-reducing variants and selection for short stature in Sardinia. | Zoledziewska M et al. | β | 2015 | β |
| Heterozygous reelin mutations cause autosomal-dominant lateral temporal epilepsy. | Dazzo E et al. | β | 2015 | β |
| HMSN-P caused by p.Pro285Leu mutation in TFG is not confined to patients with Far East ancestry. | Alavi A et al. | β | 2015 | β |
| Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family. | Figueiredo T et al. | β | 2015 | β |
| Homozygous missense mutation in STYXL1 associated with moderate intellectual disability, epilepsy and behavioural complexities. | Isrie M et al. | β | 2015 | β |
| Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder. | Kumar R et al. | β | 2015 | β |
| Host genetic variation impacts microbiome composition across human body sites. | Blekhman R et al. | β | 2015 | β |
| Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia. | Boisson B et al. | β | 2015 | β |
| Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndrome. | Shaw M et al. | β | 2015 | β |
| Identification of a Mutation in FGF23 Involved in Mandibular Prognathism. | Chen F et al. | β | 2015 | β |
| Insight in genome-wide association of metabolite quantitative traits by exome sequence analyses. | Demirkan A et al. | β | 2015 | β |
| Investigating the genetics of hippocampal volume in older adults without dementia. | Mather KA et al. | β | 2015 | β |
| Jagged 1 Rescues the Duchenne Muscular Dystrophy Phenotype. | Vieira NM et al. | β | 2015 | β |
| Laminin Ξ±2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss andΒ Collagen VI related Diseases. | Nelson I et al. | β | 2015 | β |
| Lessons learned from whole exome sequencing in multiplex families affected by a complex genetic disorder, intracranial aneurysm. | Farlow JL et al. | β | 2015 | β |
| Linkage analysis in a Dutch population isolate shows no major gene for left-handedness or atypical language lateralization. | Somers M et al. | β | 2015 | β |
| Linkage Analysis in Autoimmune Addison's Disease: NFATC1 as a Potential Novel Susceptibility Locus. | Mitchell AL et al. | β | 2015 | β |
| Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies. | Safka Brozkova D et al. | β | 2015 | β |
| Loss of function of PGAP1 as a cause of severe encephalopathy identified by Whole Exome Sequencing: Lessons of the bioinformatics pipeline. | Granzow M et al. | β | 2015 | β |
| Loss of PCLO function underlies pontocerebellar hypoplasia type III. | Ahmed MY et al. | β | 2015 | β |
| MED20 mutation associated with infantile basal ganglia degeneration and brain atrophy. | Vodopiutz J et al. | β | 2015 | β |
| Meta-analysis for Discovering Rare-Variant Associations: Statistical Methods and Software Programs. | Tang ZZ et al. | β | 2015 | β |
| Methods for association analysis and meta-analysis of rare variants in families. | Feng S et al. | β | 2015 | β |
| MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates. | Guimier A et al. | β | 2015 | β |
| Multicohort analysis of the maternal age effect on recombination. | Martin HC et al. | β | 2015 | β |
| Multiple self-healing palmoplantar carcinoma: a familial predisposition to skin cancer with primary palmoplantar and conjunctival lesions. | MamaΓ― O et al. | β | 2015 | β |
| Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia. | Rinaldi C et al. | β | 2015 | β |
| Mutation of ATF6 causes autosomal recessive achromatopsia. | Ansar M et al. | β | 2015 | β |
| Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia. | Damiano JA et al. | β | 2015 | β |
| Mutations in CDK5RAP2 cause Seckel syndrome. | Yigit G et al. | β | 2015 | β |
| Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination. | Nakayama T et al. | β | 2015 | β |
| Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability. | Heidari A et al. | β | 2015 | β |
| Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization. | Bizet AA et al. | β | 2015 | β |
| Mutations of HNRNPA0 and WIF1 predispose members of a large family to multiple cancers. | Wei C et al. | β | 2015 | β |
| Mutations of P4HA2 encoding prolyl 4-hydroxylase 2 are associated with nonsyndromic high myopia. | Guo H et al. | β | 2015 | β |
| Myoclonic occipital photosensitive epilepsy with dystonia (MOPED): A familial epilepsy syndrome. | Sadleir LG et al. | β | 2015 | β |
| Neural tube defect family with recessive trait linked to chromosome 9q21.12-21.31. | Bayri Y et al. | β | 2015 | β |
| Non-coding genomic regions possessing enhancer and silencer potential are associated with healthy aging and exceptional survival. | Kim S et al. | β | 2015 | β |
| Novel APC promoter and exon 1B deletion and allelic silencing in three mutation-negative classic familial adenomatous polyposis families. | Lin Y et al. | β | 2015 | β |
| Novel mutations in the inverted formin 2 gene of Chinese families contribute to focal segmental glomerulosclerosis. | Xie J et al. | β | 2015 | β |
| Novel TMEM98 mutations in pedigrees with autosomal dominant nanophthalmos. | Khorram D et al. | β | 2015 | β |
| PBAP: a pipeline for file processing and quality control of pedigree data with dense genetic markers. | Nato AQ et al. | β | 2015 | β |
| Pedigree-Free Descent-Based Gene Mapping from Population Samples. | Glazner C et al. | β | 2015 | β |
| Phenotypic and genetic characterization of a family carrying two Xq21.1-21.3 interstitial deletions associated with syndromic hearing loss. | Iossa S et al. | β | 2015 | β |
| Pleiotropic locus for emotion recognition and amygdala volume identified using univariate and bivariate linkage. | Knowles EE et al. | β | 2015 | β |
| Population-based in vitro hazard and concentration-response assessment of chemicals: the 1000 genomes high-throughput screening study. | Abdo N et al. | β | 2015 | β |
| Population-specific genotype imputations using minimac or IMPUTE2. | van Leeuwen EM et al. | β | 2015 | β |
| Positional cloning and next-generation sequencing identified a TGM6 mutation in a large Chinese pedigree with acute myeloid leukaemia. | Pan LL et al. | β | 2015 | β |
| PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy. | Hildebrand MS et al. | β | 2015 | β |
| PRIMAL: Fast and accurate pedigree-based imputation from sequence data in a founder population. | Livne OE et al. | β | 2015 | β |
| Rare-Variant Kernel Machine Test for Longitudinal Data from Population and Family Samples. | Yan Q et al. | β | 2015 | β |
| Reconstruction of Genome Ancestry Blocks in Multiparental Populations. | Zheng C et al. | β | 2015 | β |
| Risk factors for Plasmodium falciparum gametocyte positivity in a longitudinal cohort. | Grange L et al. | β | 2015 | β |
| RNA Sequencing and Analysis. | Kukurba KR et al. | β | 2015 | β |
| Sandwich corrected standard errors in family-based genome-wide association studies. | MinicΔ CC et al. | β | 2015 | β |
| Seasonality shows evidence for polygenic architecture and genetic correlation with schizophrenia and bipolar disorder. | Byrne EM et al. | β | 2015 | β |
| SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract. | Evers C et al. | β | 2015 | β |
| Social responsiveness, an autism endophenotype: genomewide significant linkage to two regions on chromosome 8. | Lowe JK et al. | β | 2015 | β |
| T2D and Depression Risk Gene Proteasome Modulator 9 is Linked to Insomnia. | Hao H et al. | β | 2015 | β |
| TECPR2 Associated Neuroaxonal Dystrophy in Spanish Water Dogs. | Hahn K et al. | β | 2015 | β |
| The mammalian cervical vertebrae blueprint depends on the T (brachyury) gene. | Kromik A et al. | β | 2015 | β |
| The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families. | Davarniya B et al. | β | 2015 | β |
| Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis. | Mejlachowicz D et al. | β | 2015 | β |
| WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease. | Vodopiutz J et al. | β | 2015 | β |
| Where is the causal variant? On the advantage of the family design over the case-control design in genetic association studies. | Dandine-Roulland C et al. | β | 2015 | β |
| Whole exome sequencing combined with linkage analysis identifies a novel 3βbp deletion in NR5A1. | Eggers S et al. | β | 2015 | β |
| Whole-Genome Sequencing Identifies STAT4 as a Putative Susceptibility Gene in Classic Kaposi Sarcoma. | Aavikko M et al. | β | 2015 | β |
| WNT10A exonic variant increases the risk of keratoconus by decreasing corneal thickness. | Cuellar-Partida G et al. | β | 2015 | β |
| Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish. | Santos-Cortez RL et al. | β | 2014 | β |
| A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome. | Lim SC et al. | β | 2014 | β |
| A general approach for haplotype phasing across the full spectrum of relatedness. | O'Connell J et al. | β | 2014 | β |
| A general approach to power calculation for relationship testing. | Egeland T et al. | β | 2014 | β |
| A genome scan for Plasmodium falciparum malaria identifies quantitative trait loci on chromosomes 5q31, 6p21.3, 17p12, and 19p13. | Brisebarre A et al. | β | 2014 | β |
| A genome-wide association study of intra-ocular pressure suggests a novel association in the gene FAM125B in the TwinsUK cohort. | Nag A et al. | β | 2014 | β |
| A genome-wide linkage scan of bipolar disorder in Latino families identifies susceptibility loci at 8q24 and 14q32. | Gonzalez S et al. | β | 2014 | β |
| A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS. | Huynh Cong E et al. | β | 2014 | β |
| A missense mutation in HK1 leads to autosomal dominant retinitis pigmentosa. | Wang F et al. | β | 2014 | β |
| A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family. | Khan MA et al. | β | 2014 | β |
| A multi-level model for analyzing whole genome sequencing family data with longitudinal traits. | Chen T et al. | β | 2014 | β |
| A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype. | Magini P et al. | β | 2014 | β |
| Analysis of POFUT1 gene mutation in a Chinese family with Dowling-Degos disease. | Chen M et al. | β | 2014 | β |
| An atlas of genetic influences on human blood metabolites. | Shin SY et al. | β | 2014 | β |
| A new genome scan for primary nonsyndromic vesicoureteric reflux emphasizes high genetic heterogeneity and shows linkage and association with various genes already implicated in urinary tract development. | Darlow JM et al. | β | 2014 | β |
| An FBN1 deep intronic mutation in a familial case of Marfan syndrome: an explanation for genetically unsolved cases? | Gillis E et al. | β | 2014 | β |
| An inherited mutation in NLRC4 causes autoinflammation in human and mice. | Kitamura A et al. | β | 2014 | β |
| A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects. | Favaro FP et al. | β | 2014 | β |
| A novel ALMS1 splice mutation in a non-obese juvenile-onset insulin-dependent syndromic diabetic patient. | Sanyoura M et al. | β | 2014 | β |
| A novel locus for episodic ataxia:UBR4 the likely candidate. | Conroy J et al. | β | 2014 | β |
| A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia. | Tsoi H et al. | β | 2014 | β |
| A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss. | Faletra F et al. | β | 2014 | β |
| A rare mutation in UNC5C predisposes to late-onset Alzheimer's disease and increases neuronal cell death. | Wetzel-Smith MK et al. | β | 2014 | β |
| Association and familial segregation of CTG18.1 trinucleotide repeat expansion of TCF4 gene in Fuchs' endothelial corneal dystrophy. | Mootha VV et al. | β | 2014 | β |
| Association of the KCNJ5 gene with Tourette Syndrome and Attention-Deficit/Hyperactivity Disorder. | Gomez L et al. | β | 2014 | β |
| Association of the ROBO1 gene with reading disabilities in a family-based analysis. | Tran C et al. | β | 2014 | β |
| Associations of HLA alleles with specific language impairment. | Nudel R et al. | β | 2014 | β |
| A statistical framework to guide sequencing choices in pedigrees. | Cheung CY et al. | β | 2014 | β |
| A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data. | Hu H et al. | β | 2014 | β |
| Autosomal dominant partial epilepsy with auditory features: a new locus on chromosome 19q13.11-q13.31. | Bisulli F et al. | β | 2014 | β |
| Body mass index modulates blood pressure heritability: the Family Blood Pressure Program. | Simino J et al. | β | 2014 | β |
| c.G2114A MYH9 mutation (DFNA17) causes non-syndromic autosomal dominant hearing loss in a Brazilian family. | Dantas VG et al. | β | 2014 | β |
| Clinical characterization, genetic mapping and whole-genome sequence analysis of a novel autosomal recessive intellectual disability syndrome. | Kaasinen E et al. | β | 2014 | β |
| Clinical correlates and genetic linkage of social and communication difficulties in families with obsessive-compulsive disorder: Results from the OCD Collaborative Genetics Study. | Samuels J et al. | β | 2014 | β |
| Combined linkage disequilibrium and linkage mapping: Bayesian multilocus approach. | Pikkuhookana P et al. | β | 2014 | β |
| Common mechanisms underlying refractive error identified in functional analysis of gene lists from genome-wide association study results in 2 European British cohorts. | Hysi PG et al. | β | 2014 | β |
| Comparison of methods to account for relatedness in genome-wide association studies with family-based data. | Eu-Ahsunthornwattana J et al. | β | 2014 | β |
| Congenital cataracts: de novo gene conversion event in CRYBB2. | Garnai SJ et al. | β | 2014 | β |
| Contribution of genetic variation to transgenerational inheritance of DNA methylation. | McRae AF et al. | β | 2014 | β |
| Cytochrome P450 gene CYP337 and heritability of fitness traits in the Glanville fritillary butterfly. | de Jong MA et al. | β | 2014 | β |
| Data for Genetic Analysis Workshop 18: human whole genome sequence, blood pressure, and simulated phenotypes in extended pedigrees. | Almasy L et al. | β | 2014 | β |
| Deciphering the fine-structure of tribal admixture in the Bedouin population using genomic data. | Markus B et al. | β | 2014 | β |
| Detection of Mendelian consistent genotyping errors in pedigrees. | Cheung CY et al. | β | 2014 | β |
| Detection of recombination events, haplotype reconstruction and imputation of sires using half-sib SNP genotypes. | Ferdosi MH et al. | β | 2014 | β |
| Diagnosis of cystathionine beta-synthase deficiency by genetic analysis. | Suri F et al. | β | 2014 | β |
| Efficient generalized least squares method for mixed population and family-based samples in genome-wide association studies. | Li J et al. | β | 2014 | β |
| EIF2AK4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension. | Eyries M et al. | β | 2014 | β |
| Evaluation of measures of correctness of genotype imputation in the context of genomic prediction: a review of livestock applications. | Calus MP et al. | β | 2014 | β |
| Exact computation of the distribution of likelihood ratios with forensic applications. | DΓΈrum G et al. | β | 2014 | β |
| Exome sequencing identifies a novel frameshift mutation of MYO6 as the cause of autosomal dominant nonsyndromic hearing loss in a Chinese family. | Cheng J et al. | β | 2014 | β |
| Exome sequencing identifies a novel variant in ACTC1 associated with familial atrial septal defect. | Greenway SC et al. | β | 2014 | β |
| Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders. | Cukier HN et al. | β | 2014 | β |
| Extended T(2) tests for longitudinal family data in whole genome sequencing studies. | Liu Y et al. | β | 2014 | β |
| Familial hypertryptasemia with associated mast cell activation syndrome. | Sabato V et al. | β | 2014 | β |
| Familias 3 - Extensions and new functionality. | Kling D et al. | β | 2014 | β |
| Family-based association test using both common and rare variants and accounting for directions of effects for sequencing data. | Chung RH et al. | β | 2014 | β |
| FSuite: exploiting inbreeding in dense SNP chip and exome data. | Gazal S et al. | β | 2014 | β |
| Gene-by-age effects on BMI from birth to adulthood: the Fels Longitudinal Study. | Choh AC et al. | β | 2014 | β |
| Genetic and environmental exposures constrain epigenetic drift over the human life course. | Shah S et al. | β | 2014 | β |
| Genetic evaluation and application of posterior cranial fossa traits as endophenotypes for Chiari type I malformation. | Markunas CA et al. | β | 2014 | β |
| Genetic variants in PLG, LPA, and SIGLEC 14 as well as smoking contribute to plasma plasminogen levels. | Ma Q et al. | β | 2014 | β |
| Genome-wide association and linkage analyses localize a progressive retinal atrophy locus in Persian cats. | Alhaddad H et al. | β | 2014 | β |
| Genome-wide association studies identify locus on 6p21 influencing lung function in the Korean population. | Kim WJ et al. | β | 2014 | β |
| Genome-wide genetic and transcriptomic investigation of variation in antibody response to dietary antigens. | Rubicz R et al. | β | 2014 | β |
| Genome-wide linkage and exome analyses identify variants of HMCN1 for splenic epidermoid cyst. | Omer WH et al. | β | 2014 | β |
| Genome-wide linkage and regional association study of blood pressure response to the cold pressor test in Han Chinese: the genetic epidemiology network of salt sensitivity study. | Yang X et al. | β | 2014 | β |
| Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria. | Liu H et al. | β | 2014 | β |
| Genome-wide linkage study suggests a susceptibility locus for isolated bilateral microtia on 4p15.32-4p16.2. | Li X et al. | β | 2014 | β |
| Genome-wide significant localization for working and spatial memory: Identifying genes for psychosis using models of cognition. | Knowles EE et al. | β | 2014 | β |
| Genomic view of bipolar disorder revealed by whole genome sequencing in a genetic isolate. | Georgi B et al. | β | 2014 | β |
| Genotypic discrepancies arising from imputation. | Hinrichs AL et al. | β | 2014 | β |
| Germline mutation of RPS20, encoding a ribosomal protein, causes predisposition to hereditary nonpolyposis colorectal carcinoma without DNA mismatch repair deficiency. | Nieminen TT et al. | β | 2014 | β |
| Germline mutations in MAP3K6 are associated with familial gastric cancer. | Gaston D et al. | β | 2014 | β |
| Germline variants in the SEMA4A gene predispose to familial colorectal cancer type X. | Schulz E et al. | β | 2014 | β |
| HCN4 mutations in multiple families with bradycardia and left ventricular noncompaction cardiomyopathy. | Milano A et al. | β | 2014 | β |
| Heritability and genomics of gene expression in peripheral blood. | Wright FA et al. | β | 2014 | β |
| Homozygous loss-of-function mutation in ALMS1 causes the lethal disorder mitogenic cardiomyopathy in two siblings. | Louw JJ et al. | β | 2014 | β |
| Host genetics and diet, but not immunoglobulin A expression, converge to shape compositional features of the gut microbiome in an advanced intercross population of mice. | Leamy LJ et al. | β | 2014 | β |
| HSJ1-related hereditary neuropathies: novel mutations and extended clinical spectrum. | Gess B et al. | β | 2014 | β |
| Human cognitive ability is influenced by genetic variation in components of postsynaptic signalling complexes assembled by NMDA receptors and MAGUK proteins. | Hill WD et al. | β | 2014 | β |
| Human interleukin-27: wide individual variation in plasma levels and complex inter-relationships with interleukin-17A. | Forrester MA et al. | β | 2014 | β |
| Hypomethylation of the paternally inherited LRRTM1 promoter linked to schizophrenia. | Brucato N et al. | β | 2014 | β |
| Imputation in families using a heuristic phasing approach. | Blackburn AN et al. | β | 2014 | β |
| Integration of sequence data from a Consanguineous family with genetic data from an outbred population identifies PLB1 as a candidate rheumatoid arthritis risk gene. | Okada Y et al. | β | 2014 | β |
| Investigation of a putative melanoma susceptibility locus at chromosome 3q29. | Tuominen R et al. | β | 2014 | β |
| Joint analysis of sequence data and single-nucleotide polymorphism data using pedigree information for imputation and recombination inference. | Song S et al. | β | 2014 | β |
| Linkage analysis incorporating gene-age interactions identifies seven novel lipid loci: the Family Blood Pressure Program. | Simino J et al. | β | 2014 | β |
| Little evidence for association between the TGFBR1*6A variant and colorectal cancer: a family-based association study on non-syndromic family members from Australia and Spain. | Ross JP et al. | β | 2014 | β |
| Mega2: validated data-reformatting for linkage and association analyses. | Baron RV et al. | β | 2014 | β |
| Mesoscale molecular network formation in amorphous organic materials. | Savoie BM et al. | β | 2014 | β |
| Meta-analysis of gene-level tests for rare variant association. | Liu DJ et al. | β | 2014 | β |
| Meta-analysis of repository data: impact of data regularization on NIMH schizophrenia linkage results. | Walters KA et al. | β | 2014 | β |
| METTL23, a transcriptional partner of GABPA, is essential for human cognition. | Reiff RE et al. | β | 2014 | β |
| Modular network construction using eQTL data: an analysis of computational costs and benefits. | Ho YY et al. | β | 2014 | β |
| Mutation in ST6GALNAC5 identified in family with coronary artery disease. | InanlooRahatloo K et al. | β | 2014 | β |
| Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects. | LaquΓ©rriere A et al. | β | 2014 | β |
| Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome. | Wilson GR et al. | β | 2014 | β |
| Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features. | Lessel D et al. | β | 2014 | β |
| Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes. | Schubert J et al. | β | 2014 | β |
| Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal. | Postma AV et al. | β | 2014 | β |
| NDST1 missense mutations in autosomal recessive intellectual disability. | Reuter MS et al. | β | 2014 | β |
| Nonsense mutations in BAG3 are associated with early-onset dilated cardiomyopathy in French Canadians. | Chami N et al. | β | 2014 | β |
| Novel mutation in TSPAN12 leads to autosomal recessive inheritance of congenital vitreoretinal disease with intra-familial phenotypic variability. | Gal M et al. | β | 2014 | β |
| Novel QTL at chromosome 6p22 for alcohol consumption: Implications for the genetic liability of alcohol use disorders. | Kos MZ et al. | β | 2014 | β |
| Opioid receptor mu 1 gene, fat intake and obesity in adolescence. | Haghighi A et al. | β | 2014 | β |
| OTX2 duplication is implicated in hemifacial microsomia. | Zielinski D et al. | β | 2014 | β |
| OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium. | Vincent A et al. | β | 2014 | β |
| PedBLIMP: extending linear predictors to impute genotypes in pedigrees. | Chen W et al. | β | 2014 | β |
| Phenotypic plasticity in thermal tolerance in the Glanville fritillary butterfly. | Luo S et al. | β | 2014 | β |
| Possible association between dysfunction of vitamin D binding protein (GC Globulin) and migraine attacks. | Nagata E et al. | β | 2014 | β |
| PRIMUS: rapid reconstruction of pedigrees from genome-wide estimates of identity by descent. | Staples J et al. | β | 2014 | β |
| Proteasome modulator 9 gene SNPs, responsible for anti-depressant response, are in linkage with generalized anxiety disorder. | Gragnoli C | β | 2014 | β |
| Quantitative linkage for autism spectrum disorders symptoms in attention-deficit/hyperactivity disorder: significant locus on chromosome 7q11. | Nijmeijer JS et al. | β | 2014 | β |
| Rare complement factor H variant associated with age-related macular degeneration in the Amish. | Hoffman JD et al. | β | 2014 | β |
| RAREMETAL: fast and powerful meta-analysis for rare variants. | Feng S et al. | β | 2014 | β |
| Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice. | Zou Y et al. | β | 2014 | β |
| Replication of linkage at chromosome 20p13 and identification of suggestive sex-differential risk loci for autism spectrum disorder. | Werling DM et al. | β | 2014 | β |
| Role of nicotine dependence in the association between the dopamine receptor gene DRD3 and major depressive disorder. | Korhonen T et al. | β | 2014 | β |
| SLC39A5 mutations interfering with the BMP/TGF-Ξ² pathway in non-syndromic high myopia. | Guo H et al. | β | 2014 | β |
| Strategies for genetic study of hearing loss in the Brazilian northeastern region. | Melo US et al. | β | 2014 | β |
| Suggestive linkage of familial mesial temporal lobe epilepsy to chromosome 3q26. | Fanciulli M et al. | β | 2014 | β |
| The contribution of the functional IL6R polymorphism rs2228145, eQTLs and other genome-wide SNPs to the heritability of plasma sIL-6R levels. | van Dongen J et al. | β | 2014 | β |
| The correlation between reading and mathematics ability at age twelve has a substantial genetic component. | Davis OS et al. | β | 2014 | β |
| The kinship2 R package for pedigree data. | Sinnwell JP et al. | β | 2014 | β |
| The power comparison of the haplotype-based collapsing tests and the variant-based collapsing tests for detecting rare variants in pedigrees. | Guo W et al. | β | 2014 | β |
| The value of regenotyping older linkage data sets with denser marker panels. | Vieland VJ et al. | β | 2014 | β |
| Ubiquitin ligase defect by DCAF8 mutation causes HMSN2 with giant axons. | Klein CJ et al. | β | 2014 | β |
| Unveiling the mysteries of the genetics of osteoporosis. | Alonso N et al. | β | 2014 | β |
| Using familial information for variant filtering in high-throughput sequencing studies. | Bahlo M et al. | β | 2014 | β |
| Using Mendelian inheritance to improve high-throughput SNP discovery. | Chen N et al. | β | 2014 | β |
| Value of Mendelian laws of segregation in families: data quality control, imputation, and beyond. | Blue EM et al. | β | 2014 | β |
| Variants in C-reactive protein and IL-6 genes and susceptibility to obstructive sleep apnea in children: a candidate-gene association study in European American and Southeast European populations. | Kaditis AG et al. | β | 2014 | β |
| Visualization of haplotype sharing patterns in pedigree samples. | Kim S et al. | β | 2014 | β |
| Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges. | SchabhΓΌttl M et al. | β | 2014 | β |
| A cross-platform analysis of 14,177 expression quantitative trait loci derived from lymphoblastoid cell lines. | Liang L et al. | β | 2013 | β |
| ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. | Ashraf S et al. | β | 2013 | β |
| A family-based association analysis and meta-analysis of the reading disabilities candidate gene DYX1C1. | Tran C et al. | β | 2013 | β |
| A follow-up linkage study of Finnish pre-eclampsia families identifies a new fetal susceptibility locus on chromosome 18. | Majander KK et al. | β | 2013 | β |
| A genome-wide association study of sleep habits and insomnia. | Byrne EM et al. | β | 2013 | β |
| A genome-wide integrative genomic study localizes genetic factors influencing antibodies against Epstein-Barr virus nuclear antigen 1 (EBNA-1). | Rubicz R et al. | β | 2013 | β |
| A genome-wide search for linkage of estimated glomerular filtration rate (eGFR) in the Family Investigation of Nephropathy and Diabetes (FIND). | Thameem F et al. | β | 2013 | β |
| Alterations in phosphorylated cAMP response element-binding protein (pCREB) signaling: an endophenotype of lithium-responsive bipolar disorder? | Alda M et al. | β | 2013 | β |
| An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis. | Boisson B et al. | β | 2013 | β |
| Analysis of the inheritance pattern of a Chinese family with phaeochromocytomas through whole exome sequencing. | Cao M et al. | β | 2013 | β |
| A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family. | PΓΌttmann L et al. | β | 2013 | β |
| A novel alpha-tropomyosin mutation associates with dilated and non-compaction cardiomyopathy and diminishes actin binding. | van de Meerakker JB et al. | β | 2013 | β |
| A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype. | Hauke J et al. | β | 2013 | β |
| A novel locus for autosomal dominant cone-rod dystrophy maps to chromosome 10q. | Kamenarova K et al. | β | 2013 | β |
| A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype. | Licchetta L et al. | β | 2013 | β |
| A novel SACS mutation results in non-ataxic spastic paraplegia and peripheral neuropathy. | Gregianin E et al. | β | 2013 | β |
| A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease. | Γstensson M et al. | β | 2013 | β |
| A simulation module in the computer program COLONY for sibship and parentage analysis. | Wang J | β | 2013 | β |
| Association of HLA-G 3' untranslated region polymorphisms with antibody response against Plasmodium falciparum antigens: preliminary results. | Sabbagh A et al. | β | 2013 | β |
| Association of HLA-G 3'UTR polymorphisms with response to malaria infection: a first insight. | Garcia A et al. | β | 2013 | β |
| Association study of 83 candidate genes for bipolar disorder in chromosome 6q selected using an evidence-based prioritization algorithm. | Bigdeli TB et al. | β | 2013 | β |
| Asthma and atopic dermatitis are associated with increased risk of clinical Plasmodium falciparum malaria. | Herrant M et al. | β | 2013 | β |
| A system for exact and approximate genetic linkage analysis of SNP data in large pedigrees. | Silberstein M et al. | β | 2013 | β |
| Autosomal dominant diabetes arising from a Wolfram syndrome 1 mutation. | Bonnycastle LL et al. | β | 2013 | β |
| Bioinformatic perspectives in the neuronal ceroid lipofuscinoses. | Kmoch S et al. | β | 2013 | β |
| BMS1 is mutated in aplasia cutis congenita. | Marneros AG | β | 2013 | β |
| Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis. | Smith KR et al. | β | 2013 | β |
| Cerebellar dysfunction in a family harboring the PSEN1 mutation co-segregating with a cathepsin D variant p.A58V. | Ehling R et al. | β | 2013 | β |
| Clinical and histopathological study of Charcot-Marie-Tooth neuropathy with a novel S90W mutation in BSCL2. | Choi BO et al. | β | 2013 | β |
| Combined genome-wide linkage and association analyses of fasting glucose level in healthy twins and families of Korea. | Suh YJ et al. | β | 2013 | β |
| Common variation neighbouring micro-RNA 22 is associated with increased left ventricular mass. | Harper AR et al. | β | 2013 | β |
| Copy number variation at chromosome 5q21.2 is associated with intraocular pressure. | Nag A et al. | β | 2013 | β |
| Definition of high-risk type 1 diabetes HLA-DR and HLA-DQ types using only three single nucleotide polymorphisms. | Nguyen C et al. | β | 2013 | β |
| Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans. | Hills LB et al. | β | 2013 | β |
| Dense-map genome scan for dyslexia supports loci at 4q13, 16p12, 17q22; suggests novel locus at 7q36. | Field LL et al. | β | 2013 | β |
| Detection and impact of rare regulatory variants in human disease. | Li X et al. | β | 2013 | β |
| Developmental dysplasia of the hip: linkage mapping and whole exome sequencing identify a shared variant in CX3CR1 in all affected members of a large multigeneration family. | Feldman GJ et al. | β | 2013 | β |
| Dominant form of congenital hyperinsulinism maps to HK1 region on 10q. | Pinney SE et al. | β | 2013 | β |
| Dosage transmission disequilibrium test (dTDT) for linkage and association detection. | Zhang Z et al. | β | 2013 | β |
| Dynamic genetic linkage of intermediate blood pressure phenotypes during postural adaptations in a founder population. | Arenas IA et al. | β | 2013 | β |
| Effects of rare and common blood pressure gene variants on essential hypertension: results from the Family Blood Pressure Program, CLUE, and Atherosclerosis Risk in Communities studies. | Nguyen KD et al. | β | 2013 | β |
| Estimation and partition of heritability in human populations using whole-genome analysis methods. | Vinkhuyzen AA et al. | β | 2013 | β |
| Evaluating power and type 1 error in large pedigree analyses of binary traits. | Cummings AC et al. | β | 2013 | β |
| Evidence for novel genetic loci associated with metabolic traits in Yup'ik people. | Aslibekyan S et al. | β | 2013 | β |
| Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy. | Norton N et al. | β | 2013 | β |
| Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure. | Izumi R et al. | β | 2013 | β |
| Fine-mapping of restless legs locus 4 (RLS4) identifies a haplotype over the SPATS2L and KCTD18 genes. | Pichler I et al. | β | 2013 | β |
| Five linkage regions each harbor multiple type 2 diabetes genes in the African American subset of the GENNID Study. | Hasstedt SJ et al. | β | 2013 | β |
| Frontotemporal dementia-amyotrophic lateral sclerosis syndrome locus on chromosome 16p12.1-q12.2: genetic, clinical and neuropathological analysis. | Dobson-Stone C et al. | β | 2013 | β |
| FTO, obesity and the adolescent brain. | Melka MG et al. | β | 2013 | β |
| Genetic Analyses of a Three Generation Family Segregating Hirschsprung Disease and Iris Heterochromia. | Cui L et al. | β | 2013 | β |
| Genetic analysis and SOD1 mutation screening in Iranian amyotrophic lateral sclerosis patients. | Alavi A et al. | β | 2013 | β |
| Genetic architecture of carotid artery intima-media thickness in Mexican Americans. | Melton PE et al. | β | 2013 | β |
| Genetic determinants of plasma Ξ²β-glycoprotein I levels: a genome-wide association study in extended pedigrees from Spain. | Athanasiadis G et al. | β | 2013 | β |
| Genetic effects on DNA methylation and its potential relevance for obesity in Mexican Americans. | Carless MA et al. | β | 2013 | β |
| Genetic risk for earlier menarche also influences peripubertal body mass index. | Johnson W et al. | β | 2013 | β |
| Genetic susceptibility to non-necrotizing erysipelas/cellulitis. | Hannula-Jouppi K et al. | β | 2013 | β |
| Genetic variants associated with disordered eating. | Wade TD et al. | β | 2013 | β |
| Genome-wide association analysis confirms and extends the association of SLC2A9 with serum uric acid levels to Mexican Americans. | Voruganti VS et al. | β | 2013 | β |
| Genome wide association and linkage analyses identified three loci-4q25, 17q23.2, and 10q11.21-associated with variation in leukocyte telomere length: the Long Life Family Study. | Lee JH et al. | β | 2013 | β |
| Genome-wide association study identifies loci affecting blood copper, selenium and zinc. | Evans DM et al. | β | 2013 | β |
| Genome-wide linkage analyses of 12 endophenotypes for schizophrenia from the Consortium on the Genetics of Schizophrenia. | Greenwood TA et al. | β | 2013 | β |
| Genome-wide linkage analysis for human longevity: Genetics of Healthy Aging Study. | Beekman M et al. | β | 2013 | β |
| Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects. | ArΓ©lin M et al. | β | 2013 | β |
| Genome-wide linkage analysis of congenital heart defects using MOD score analysis identifies two novel loci. | Flaquer A et al. | β | 2013 | β |
| Genome-wide linkage scan for psoriasis susceptibility loci in multiplex Tunisian families. | Ammar M et al. | β | 2013 | β |
| Genome-wide linkage scan in affected sibling pairs identifies novel susceptibility region for venous thromboembolism: Genetics In Familial Thrombosis study. | de Visser MC et al. | β | 2013 | β |
| Genotype imputation accuracy in a F2 pig population using high density and low density SNP panels. | GualdrΓ³n Duarte JL et al. | β | 2013 | β |
| GFI1B mutation causes a bleeding disorder with abnormal platelet function. | Stevenson WS et al. | β | 2013 | β |
| GIGI: an approach to effective imputation of dense genotypes on large pedigrees. | Cheung CY et al. | β | 2013 | β |
| GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association. | RenterΓa ME et al. | β | 2013 | β |
| HapFABIA: identification of very short segments of identity by descent characterized by rare variants in large sequencing data. | Hochreiter S | β | 2013 | β |
| Haplotype co-segregation with attention deficit-hyperactivity disorder in unrelated German multi-generation families. | Lin MK et al. | β | 2013 | β |
| Haplotype phasing after joint estimation of recombination and linkage disequilibrium in breeding populations. | Gomez-Raya L et al. | β | 2013 | β |
| Heritability and genome-wide SNP linkage analysis of temperament in bipolar disorder. | Greenwood TA et al. | β | 2013 | β |
| Heritability and linkage analysis of personality in bipolar disorder. | Greenwood TA et al. | β | 2013 | β |
| Homozygosity mapping of depressive disorder in a large family from Pakistan: significant linkage on chromosome 6 and 9. | Ayub M et al. | β | 2013 | β |
| Identification and biochemical analysis of a novel APOB mutation that causes autosomal dominant hypercholesterolemia. | Thomas ER et al. | β | 2013 | β |
| Identification and functional study of a new missense mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11). | Sang Q et al. | β | 2013 | β |
| Identification of a candidate gene for astigmatism. | Lopes MC et al. | β | 2013 | β |
| Identification of a glutamic acid repeat polymorphism of ALMS1 as a novel genetic risk marker for early-onset myocardial infarction by genome-wide linkage analysis. | Ichihara S et al. | β | 2013 | β |
| Identification of antithrombin-modulating genes. Role of LARGE, a gene encoding a bifunctional glycosyltransferase, in the secretion of proteins? | de la Morena-Barrio ME et al. | β | 2013 | β |
| Identification of CHIP as a novel causative gene for autosomal recessive cerebellar ataxia. | Shi Y et al. | β | 2013 | β |
| Identification of novel variants in colorectal cancer families by high-throughput exome sequencing. | DeRycke MS et al. | β | 2013 | β |
| Identification of pedigree relationship from genome sharing. | Hill WG et al. | β | 2013 | β |
| Identification of pleiotropic genetic effects on obesity and brain anatomy. | Curran JE et al. | β | 2013 | β |
| Identity by descent: variation in meiosis, across genomes, and in populations. | Thompson EA | β | 2013 | β |
| Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length. | Eckl KM et al. | β | 2013 | β |
| Imputation of high-density genotypes in the Fleckvieh cattle population. | Pausch H et al. | β | 2013 | β |
| Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus. | Harakalova M et al. | β | 2013 | β |
| Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies. | Eisenberger T et al. | β | 2013 | β |
| Inference of the genetic architecture underlying BMI and height with the use of 20,240 sibling pairs. | Hemani G et al. | β | 2013 | β |
| Inherited human OX40 deficiency underlying classic Kaposi sarcoma of childhood. | Byun M et al. | β | 2013 | β |
| Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure. | Beetz C et al. | β | 2013 | β |
| Integrative pathway analysis of a genome-wide association study of (V)O(2max) response to exercise training. | Ghosh S et al. | β | 2013 | β |
| Interrogation of the platelet-derived growth factor receptor alpha locus and corneal astigmatism in Australians of Northern European ancestry: results of a genome-wide association study. | Yazar S et al. | β | 2013 | β |
| IPED: inheritance path-based pedigree reconstruction algorithm using genotype data. | He D et al. | β | 2013 | β |
| Ischemic stroke is associated with the ABO locus: the EuroCLOT study. | Williams FM et al. | β | 2013 | β |
| iXora: exact haplotype inferencing and trait association. | Utro F et al. | β | 2013 | β |
| Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association. | Desch KC et al. | β | 2013 | β |
| Linkage analysis in familial non-Lynch syndrome colorectal cancer families from Sweden. | Kontham V et al. | β | 2013 | β |
| Linkage analysis of a large African family segregating stuttering suggests polygenic inheritance. | Raza MH et al. | β | 2013 | β |
| Linkage and association of successful aging to the 6q25 region in large Amish kindreds. | Edwards DR et al. | β | 2013 | β |
| Linkage study and exome sequencing identify a BDP1 mutation associated with hereditary hearing loss. | Girotto G et al. | β | 2013 | β |
| LMX1B mutations cause hereditary FSGS without extrarenal involvement. | Boyer O et al. | β | 2013 | β |
| Lumbar disc degeneration is linked to a carbohydrate sulfotransferase 3 variant. | Song YQ et al. | β | 2013 | β |
| Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2. | Moffatt P et al. | β | 2013 | β |
| Methods of tagSNP selection and other variables affecting imputation accuracy in swine. | Badke YM et al. | β | 2013 | β |
| Migraine with aura as the predominant phenotype in a family with a PRRT2 mutation. | Sheerin UM et al. | β | 2013 | β |
| Morphometric magnetic resonance imaging and genetic testing in cerebellar abiotrophy in Arabian horses. | Cavalleri JM et al. | β | 2013 | β |
| Multiple mutant T alleles cause haploinsufficiency of Brachyury and short tails in Manx cats. | Buckingham KJ et al. | β | 2013 | β |
| Multiple variants aggregate in the neuregulin signaling pathway in a subset of schizophrenia patients. | Hatzimanolis A et al. | β | 2013 | β |
| Mutation in MEOX1 gene causes a recessive Klippel-Feil syndrome subtype. | Bayrakli F et al. | β | 2013 | β |
| Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing. | Kirby A et al. | β | 2013 | β |
| Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. | Ravenscroft G et al. | β | 2013 | β |
| Mutations in SCO2 are associated with autosomal-dominant high-grade myopia. | Tran-Viet KN et al. | β | 2013 | β |
| Novel COCH mutation in a family with autosomal dominant late onset sensorineural hearing impairment and tinnitus. | Gallant E et al. | β | 2013 | β |
| Novel GUCA1A mutations suggesting possible mechanisms of pathogenesis in cone, cone-rod, and macular dystrophy patients. | Kamenarova K et al. | β | 2013 | β |
| On estimation of genetic variance within families using genome-wide identity-by-descent sharing. | Hill WG | β | 2013 | β |
| Ordered subset linkage analysis based on admixture proportion identifies new linkage evidence for alcohol dependence in African-Americans. | Han S et al. | β | 2013 | β |
| Overweight condition and waist circumference and a candidate gene within the 12q24 locus. | Gragnoli C | β | 2013 | β |
| Parkinson disease loci in the mid-western Amish. | Davis MF et al. | β | 2013 | β |
| Pedigree and genotyping quality analyses of over 10,000 DNA samples from the Generation Scotland: Scottish Family Health Study. | Kerr SM et al. | β | 2013 | β |
| Phenotypic characterization of a Chinese family with autosomal dominant cone-rod dystrophy related to GUCY2D. | Xu F et al. | β | 2013 | β |
| PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease. | Azzedine H et al. | β | 2013 | β |
| Posterior microphthalmia and nanophthalmia in Tunisia caused by a founder c.1059_1066insC mutation of the PRSS56 gene. | Said MB et al. | β | 2013 | β |
| Primary mediastinal large B-cell lymphoma segregating in a family: exome sequencing identifies MLL as a candidate predisposition gene. | Saarinen S et al. | β | 2013 | β |
| Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability. | BΓΆgershausen N et al. | β | 2013 | β |
| Refining genome-wide linkage intervals using a meta-analysis of genome-wide association studies identifies loci influencing personality dimensions. | Amin N et al. | β | 2013 | β |
| SeqSIMLA: a sequence and phenotype simulation tool for complex disease studies. | Chung RH et al. | β | 2013 | β |
| SHAVE: shrinkage estimator measured for multiple visits increases power in GWAS of quantitative traits. | Meirelles OD et al. | β | 2013 | β |
| SNP linkage analysis and whole exome sequencing identify a novel POU4F3 mutation in autosomal dominant late-onset nonsyndromic hearing loss (DFNA15). | Kim HJ et al. | β | 2013 | β |
| Stratified whole genome linkage analysis of Chiari type I malformation implicates known Klippel-Feil syndrome genes as putative disease candidates. | Markunas CA et al. | β | 2013 | β |
| Taiwan Schizophrenia Linkage Study: lessons learned from endophenotype-based genome-wide linkage scans and perspective. | Chen WJ | β | 2013 | β |
| TATES: efficient multivariate genotype-phenotype analysis for genome-wide association studies. | van der Sluis S et al. | β | 2013 | β |
| TERT promoter mutations in familial and sporadic melanoma. | Horn S et al. | β | 2013 | β |
| The molecular genetic architecture of self-employment. | van der Loos MJ et al. | β | 2013 | β |
| The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis. | Dieterich K et al. | β | 2013 | β |
| The positive association of obesity variants with adulthood adiposity strengthens over an 80-year period: a gene-by-birth year interaction. | Demerath EW et al. | β | 2013 | β |
| The use of imputed sibling genotypes in sibship-based association analysis: on modeling alternatives, power and model misspecification. | MinicΔ CC et al. | β | 2013 | β |
| Thoracic aortic aneurysm in infancy in aneurysms-osteoarthritis syndrome due to a novel SMAD3 mutation: further delineation of the phenotype. | Wischmeijer A et al. | β | 2013 | β |
| Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene. | Esposito T et al. | β | 2013 | β |
| Unlocking the bottleneck in forward genetics using whole-genome sequencing and identity by descent to isolate causative mutations. | Bull KR et al. | β | 2013 | β |
| Using identity by descent estimation with dense genotype data to detect positive selection. | Han L et al. | β | 2013 | β |
| Variable myopathic presentation in a single family with novel skeletal RYR1 mutation. | Attali R et al. | β | 2013 | β |
| Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations. | Ravenscroft G et al. | β | 2013 | β |
| Whole genome identity-by-descent determination. | Sabaa H et al. | β | 2013 | β |
| Whole-genome sequencing in an autism multiplex family. | Shi L et al. | β | 2013 | β |
| Xq27 FRAXA locus is a strong candidate for dyslexia: evidence from a genome-wide scan in French families. | Huc-Chabrolle M et al. | β | 2013 | β |
| A 3.7 Mb deletion encompassing ZEB2 causes a novel polled and multisystemic syndrome in the progeny of a somatic mosaic bull. | Capitan A et al. | β | 2012 | β |
| Aberrant transcript produced by a splice donor site deletion in the TECTA gene is associated with autosomal dominant deafness in a Brazilian family. | Lezirovitz K et al. | β | 2012 | β |
| A comparison of different linkage statistics in small to moderate sized pedigrees with complex diseases. | Flaquer A et al. | β | 2012 | β |
| A confidence set inference method for identifying SNPs that regulate quantitative phenotypes. | Papachristou C et al. | β | 2012 | β |
| A family-based association study identified CYP17 as a candidate gene for obesity susceptibility in Caucasians. | Yan H et al. | β | 2012 | β |
| A genome-wide association study identifies five loci influencing facial morphology in Europeans. | Liu F et al. | β | 2012 | β |
| Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. | Tesson C et al. | β | 2012 | β |
| A novel autosomal dominant inclusion body myopathy linked to 7q22.1-31.1. | Lu Y et al. | β | 2012 | β |
| A novel locus for restless legs syndrome on chromosome 13q. | Balaban H et al. | β | 2012 | β |
| Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1. | Guergueltcheva V et al. | β | 2012 | β |
| Changes in uric acid levels following bariatric surgery are not associated with SLC2A9 variants in the Swedish Obese Subjects Study. | Sarzynski MA et al. | β | 2012 | β |
| Comprehensive genomic analyses associate UGT8 variants with musical ability in a Mongolian population. | Park H et al. | β | 2012 | β |
| Copy number variation leads to considerable diversity for B but not A haplotypes of the human KIR genes encoding NK cell receptors. | Jiang W et al. | β | 2012 | β |
| Early-onset Lafora body disease. | Turnbull J et al. | β | 2012 | β |
| Evaluation of a bayesian model integration-based method for censored data. | Hou L et al. | β | 2012 | β |
| Exercise and diet affect quantitative trait loci for body weight and composition traits in an advanced intercross population of mice. | Leamy LJ et al. | β | 2012 | β |
| Extensive natural variation for cellular hydrogen peroxide release is genetically controlled. | Attar H et al. | β | 2012 | β |
| Genetic modifiers of nutritional status in cystic fibrosis. | Bradley GM et al. | β | 2012 | β |
| Genetic variants near PDGFRA are associated with corneal curvature in Australians. | Mishra A et al. | β | 2012 | β |
| Genetic variation in metabolic phenotypes: study designs and applications. | Suhre K et al. | β | 2012 | β |
| Genome-wide association and linkage study in the Amish detects a novel candidate late-onset Alzheimer disease gene. | Cummings AC et al. | β | 2012 | β |
| Genome-wide linkage analysis of human auditory cortical activation suggests distinct loci on chromosomes 2, 3, and 8. | Renvall H et al. | β | 2012 | β |
| Genome-wide linkage and association scans for pulse pressure in Chinese twins. | Zhang D et al. | β | 2012 | β |
| Genome-wide linkage scan of antisocial behavior, depression, and impulsive substance use in the UCSF family alcoholism study. | Gizer IR et al. | β | 2012 | β |
| Genome-wide meta-analysis points to CTC1 and ZNF676 as genes regulating telomere homeostasis in humans. | Mangino M et al. | β | 2012 | β |
| Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility. | McGrath JA et al. | β | 2012 | β |
| Heritability and whole genome linkage of pulse pressure in chinese twin pairs. | Jiang W et al. | β | 2012 | β |
| Heritability in the genome-wide association era. | Zaitlen N et al. | β | 2012 | β |
| Identification of a potential susceptibility locus for macular telangiectasia type 2. | Parmalee NL et al. | β | 2012 | β |
| Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. | Vuillaumier-Barrot S et al. | β | 2012 | β |
| Identifying mutation regions for closely related individuals without a known pedigree. | Cui W et al. | β | 2012 | β |
| Inferring haplotypes and parental genotypes in larger full sib-ships and other pedigrees with missing or erroneous genotype data. | Nettelblad C | β | 2012 | β |
| Inherited MST1 deficiency underlies susceptibility to EV-HPV infections. | Crequer A et al. | β | 2012 | β |
| Linkage analysis for plasma amyloid beta levels in persons with hypertension implicates AΞ²-40 levels to presenilin 2. | Ibrahim-Verbaas CA et al. | β | 2012 | β |
| Linkage replication for chromosomal region 13q32 in schizophrenia: evidence from a Brazilian pilot study on early onset schizophrenia families. | Gadelha A et al. | β | 2012 | β |
| Loss of SUFU function in familial multiple meningioma. | Aavikko M et al. | β | 2012 | β |
| Mapping cis- and trans-regulatory effects across multiple tissues in twins. | Grundberg E et al. | β | 2012 | β |
| Model-free tests for genetic linkage. | Amos CI et al. | β | 2012 | β |
| Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death. | Nyegaard M et al. | β | 2012 | β |
| Mutations in KCND3 cause spinocerebellar ataxia type 22. | Lee YC et al. | β | 2012 | β |
| Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy. | Preising MN et al. | β | 2012 | β |
| Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer. | Giehl KA et al. | β | 2012 | β |
| Olorin: combining gene flow with exome sequencing in large family studies of complex disease. | Morris JA et al. | β | 2012 | β |
| Parameter estimation and quantitative parametric linkage analysis with GENEHUNTER-QMOD. | KΓΌnzel T et al. | β | 2012 | β |
| Proteasome modulator 9 is linked to microvascular pathology of T2D. | Gragnoli C | β | 2012 | β |
| Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry. | Olbrich H et al. | β | 2012 | β |
| Shared genomic segment analysis: the power to find rare disease variants. | Knight S et al. | β | 2012 | β |
| Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1. | Zhou J et al. | β | 2012 | β |
| Studies of TBX4 and chromosome 17q23.1q23.2: an uncommon cause of nonsyndromic clubfoot. | Lu W et al. | β | 2012 | β |
| Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3. | Eisenberger T et al. | β | 2012 | β |
| The robustness of generalized estimating equations for association tests in extended family data. | Suktitipat B et al. | β | 2012 | β |
| Unraveling the genetic etiology of adult antisocial behavior: a genome-wide association study. | Tielbeek JJ et al. | β | 2012 | β |
| Using family-based imputation in genome-wide association studies with large complex pedigrees: the Framingham Heart Study. | Chen MH et al. | β | 2012 | β |
| Using object oriented bayesian networks to model linkage, linkage disequilibrium and mutations between STR markers. | Kling D et al. | β | 2012 | β |