A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.
paper
Cited
Public
- Authors
- Tarpey, Patrick S; Smith, Raffaella; Pleasance, Erin; Whibley, Annabel; Edkins, Sarah; Hardy, Claire; O'Meara, Sarah; Latimer, Calli; Dicks, Ed; Menzies, Andrew; Stephens, Phil; Blow, Matt; Greenman, Chris; Xue, Yali; Tyler-Smith, Chris; Thompson, Deborah; Gray, Kristian; Andrews, Jenny; Barthorpe, Syd; Buck, Gemma; Cole, Jennifer; Dunmore, Rebecca; Jones, David; Maddison, Mark; Mironenko, Tatiana; Turner, Rachel; Turrell, Kelly; Varian, Jennifer; West, Sofie; Widaa, Sara; Wray, Paul; Teague, Jon; Butler, Adam; Jenkinson, Andrew; Jia, Mingming; Richardson, David; Shepherd, Rebecca; Wooster, Richard; Tejada, M Isabel; Martinez, Francisco; Carvill, Gemma; Goliath, Rene; de Brouwer, Arjan P M; van Bokhoven, Hans; Van Esch, Hilde; Chelly, Jamel; Raynaud, Martine; Ropers, Hans-Hilger; Abidi, Fatima E; Srivastava, Anand K; Cox, James; Luo, Ying; Mallya, Uma; Moon, Jenny; Parnau, Josef; Mohammed, Shehla; Tolmie, John L; Shoubridge, Cheryl; Corbett, Mark; Gardner, Alison; Haan, Eric; Rujirabanjerd, Sinitdhorn; Shaw, Marie; Vandeleur, Lucianne; Fullston, Tod; Easton, Douglas F; Boyle, Jackie; Partington, Michael; Hackett, Anna; Field, Michael; Skinner, Cindy; Stevenson, Roger E; Bobrow, Martin; Turner, Gillian; Schwartz, Charles E; Gecz, Jozef; Raymond, F Lucy; Futreal, P Andrew; Stratton, Michael R
- Year
- 2009
- Journal
- Nature genetics
- PMID
- 19377476
- DOI
- 10.1038/ng.367
- PMCID
- PMC2872007
Large-scale systematic resequencing has been proposed as the key future strategy for the discovery of rare, disease-causing sequence variants across the spectrum of human complex disease. We have sequenced the coding exons of the X chromosome in 208 families with X-linked mental retardation (XLMR), the largest direct screen for constitutional disease-causing mutations thus far reported. The screen has discovered nine genes implicated in XLMR, including SYP, ZNF711 and CASK reported here, confirming the power of this strategy. The study has, however, also highlighted issues confronting whole-genome sequencing screens, including the observation that loss of function of 1% or more of X-chromosome genes is compatible with apparently normal existence.
Pedigrees of families with likely deleterious variants in the SYP, ZNF711 and CASK genes. Shaded symbols indicate individuals with mental retardation and open symbols indicate individuals who are unaffected. Symbols containing a red square indicate individuals with both mental retardation and nystagmus. An asterisk indicates the presence of the variant allele and βwtβ indicates the presence of the wild-type allele. lod scores are shown in parentheses. (a) SYP. In family MRFU-470, additional individuals were unavailable to genotype. (b) ZNF711. In family 208 the maternal grandfather of the proband (I.1) is thought likely to have mild mental retardation, though this individual was unavailable to enable a detailed clinical assessment. (c) CASK. In family 74, individual III.4 was considered to have milder mental retardation compared to the other affected males and did not present with nystagmus. A lod score of β0.3 was generated when individual III.4 was considered as affected with mental retardation, and a lod score of 1.1 was obtained when his disease status was considered unknown.
β Prev
21β40 of 40
| Name | Type |
|---|---|
| 1,122 XLMR-affected individuals local | cohort |
| 1,122 XLMR-affected subjects examined local | cohort |
| 1,401 controls local | cohort |
| 150 additional families with XLMR local | cohort |
| 208 families local | cohort |
| 208 screened families local | cohort |
| 2129A>G (D710G) local | variant |
| 390 control X chromosomes local | cohort |
| 41,200 controls local | cohort |
| additional 1,129 controls local | cohort |
| additional 914 XLMR-affected subjects local | cohort |
| AP1S2 local | gene |
| ARSF local | gene |
| ARSF truncating variant local | variant |
| ataxia | phenotype |
| ATXN3L local | gene |
| Australia | cohort |
| autosomal recessive mutations local | variant |
| BEX4 | gene |
| brain | anatomy |
| BRWD3 local | gene |
| calcium/calmodulin-dependent serine protein kinase local | drug |
| carrier females local | cohort |
| CASK local | gene |
| CASK inactivating mutation local | variant |
| CASK missense variant local | variant |
| CASK truncation local | variant |
| central obesity | phenotype |
| coding sequence variants local | variant |
| cognition | phenotype |
| Cohort_208_XLMR_cases local | cohort |
| control DNAs local | cohort |
| controls | cohort |
| control X chromosomes local | cohort |
| copy number variant | variant |
| CUL4B local | gene |
| disease | phenotype |
| disease cases local | cohort |
| disease genes | gene |
| disease phenotypes | phenotype |
| DRP2 local | gene |
| early neonatal lethality local | phenotype |
| epilepsy | phenotype |
| European ancestry | cohort |
| FAM47B | gene |
| families with mental retardation local | cohort |
| FG syndrome local | phenotype |
| FMR1 | gene |
| G6PD | gene |
| genes associated with nervous system diseases local | gene |
| genes expressed in brain local | gene |
| genes involved in X-linked mental retardation local | gene |
| GTPBP6 local | gene |
| GTPBP6:118C>T (Q40*) local | variant |
| HugeIndex database local | cohort |
| HUWE1 local | gene |
| hypogonadism local | phenotype |
| IL1RAPL1 | gene |
| IL1RAPL1 deletion local | variant |
| in-frame local | variant |
| in-frame deletions/insertions local | variant |
| In-frame insertion/deletion variant local | variant |
| in-frame variant local | variant |
| intellectual function | phenotype |
| ITIH5L local | gene |
| ITIH5L truncating variant local | variant |
| Lujan-Fryns syndrome local | phenotype |
| macrocephaly | phenotype |
| MAGEE2 local | gene |
| MAGEE2:358G>T (E120*) local | variant |
| male controls local | cohort |
| male index subjects local | cohort |
| male lethality local | phenotype |
| MAP3K15 local | gene |
| MAP7D3 local | gene |
| Marfanoid habitus local | phenotype |
| MeCP2 | gene |
| MED12 local | gene |
| mendelian disease local | phenotype |
| mental retardation | phenotype |
| mental retardationβcausing variant local | variant |
| mental retardation (mild to moderate) local | phenotype |
| missense amino-acid substitutions local | variant |
| missense double-nucleotide substitutions local | variant |
| missense variants | variant |
| nervous system diseases local | phenotype |
| non-disease genes local | gene |
| Nonrecurrent coding sequence variant local | variant |
| nonrecurrent truncating variant local | variant |
| nonrecurrent variant local | variant |
| nonsense (termination) codons local | variant |
| nonsyndromic mental retardation local | phenotype |
| normal development local | phenotype |
| null allele local | variant |
| nystagmus | phenotype |
| obligate carrier females local | cohort |
| OPHN1 | gene |
| other-disease-associated genes local | gene |
| P2RY4 local | gene |
| PGK1 | gene |
| postsynaptic membrane of central nervous synapses local | anatomy |
| primary sequencing screen local | cohort |
| profound mental retardation local | phenotype |
| protein-truncating variant local | variant |
| pseudoautosomal region local | cohort |
| read-through variant local | variant |
| Recurrent coding sequence variant local | variant |
| recurrent variant local | variant |
| relative macrocephaly local | phenotype |
| RPL9P7 local | gene |
| SAGE1 local | gene |
| SATL1 local | gene |
| severe cerebral malformation local | phenotype |
| single-nucleotide changes local | variant |
| SLC9A6 local | gene |
| small insertions and deletions local | variant |
| SMARCA1 | gene |
| South Africa | cohort |
| splice acceptor and donor site abnormalities local | variant |
| SSX6 local | gene |
| subjects with XLMR screened local | cohort |
| synonymous (silent) changes local | variant |
| synonymous variant | variant |
| SYP | gene |
| SYP 4-bp deletion local | variant |
| SYP missense variant local | variant |
| SYP nonsense variant local | variant |
| SYP truncating variant local | variant |
| SYTL5 local | gene |
| translational frameshifts local | variant |
| tremor | phenotype |
| truncating variant | variant |
| truncating variant in ATXN3L local | variant |
| truncating variant in BEX4 local | variant |
| truncating variant in DRP2 local | variant |
| truncating variant in FAM47B local | variant |
| truncating variant in MAP3K15 local | variant |
| truncating variant in MAP7D3 local | variant |
| truncating variant in P2RY4 local | variant |
| truncating variant in RPL9P7 local | variant |
| truncating variant in SAGE1 local | variant |
| truncating variant in SATL1 local | variant |
| truncating variant in SSX6 local | variant |
| truncating variant in SYTL5 local | variant |
| truncating variant in VSIG4 local | variant |
| truncating variant in ZCCHC13 local | variant |
| truncating variants (19 genes) local | variant |
| UBE2NL local | gene |
| UBE2NL:266T>G (L89*) local | variant |
| United Kingdom | cohort |
| United States | cohort |
| UPF3B local | gene |
| USP9X | gene |
| USP9X truncating variant local | variant |
| VSIG4 | gene |
| VSIG4 truncating variant local | variant |
| X chromosome | drug |
| X-chromosome disease genes without cognitive impairment local | cohort |
| X chromosome gene local | gene |
| X-chromosome genes not associated with a disease local | cohort |
| X-chromosome genes not yet associated with mendelian disease local | cohort |
| XLMR-affected families local | cohort |
| XLMR-affected individuals local | cohort |
| XLMR-affected subjects local | cohort |
| XLMR-associated genes local | cohort |
| XLMR-associated genes local | gene |
| XLMR gene local | gene |
| X-specific region of the X chromosome local | cohort |
| ZCCHC13 local | gene |
| ZDHHC9 local | gene |
| ZFX local | gene |
| ZNF183 local | gene |
| ZNF183 truncating variant local | variant |
| ZNF711 local | gene |
| ZNF711 truncating variant local | variant |
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| A Single-Cell Model for Synaptic Transmission and Plasticity in Human iPSC-Derived Neurons. | Meijer M et al. | β | 2019 | β |
| A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity. | Kolc KL et al. | β | 2019 | β |
| Defective DNA Polymerase Ξ±-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism. | Van Esch H et al. | β | 2019 | β |
| Deficiency of calcium/calmodulin-dependent serine protein kinase disrupts the excitatory-inhibitory balance of synapses by down-regulating GluN2B. | Mori T et al. | β | 2019 | β |
| Diagnostic Yields of Trio-WES Accompanied by CNVseq for Rare Neurodevelopmental Disorders. | Gao C et al. | β | 2019 | β |
| Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disorders. | Srivastava S et al. | β | 2019 | β |
| Female-restricted syndromic intellectual disability in a patient from Thailand. | Sinthuwiwat T et al. | β | 2019 | β |
| Functional Assessment <i>In Vivo</i> of the Mouse Homolog of the Human Ala-9-Ser NHE6 Variant. | Ouyang Q et al. | β | 2019 | β |
| Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders. | Poeta L et al. | β | 2019 | β |
| IQSEC2 mutation update and review of the female-specific phenotype spectrum including intellectual disability and epilepsy. | Shoubridge C et al. | β | 2019 | β |
| Molecular and Clinical Characterization of a Novel Nonsense Variant in Exon 1 of the <i>UPF3B</i> Gene Found in a Large Spanish Basque Family (MRX82). | Tejada MI et al. | β | 2019 | β |
| Network Profiling of Brain-Expressed X-Chromosomal MicroRNA Genes Implicates Shared Key MicroRNAs in Intellectual Disability. | GonΓ§alves TF et al. | β | 2019 | β |
| Palmitoylation-mediated synaptic regulation of AMPA receptor trafficking and function. | Sohn H et al. | β | 2019 | β |
| Pathobiology of Christianson syndrome: Linking disrupted endosomal-lysosomal function with intellectual disability and sensory impairments. | Kerner-Rossi M et al. | β | 2019 | β |
| Protective effects of the ROCK inhibitor fasudil against cognitive dysfunction following status epilepticus in male rats. | Song X et al. | β | 2019 | β |
| Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability. | Sanchis-Juan A et al. | β | 2019 | β |
| Synaptophysin sustains presynaptic performance by preserving vesicular synaptobrevin-II levels. | Kokotos AC et al. | β | 2019 | β |
| Thinking outside of the cell: Secreted protein kinases in bacteria, parasites, and mammals. | Park BC et al. | β | 2019 | β |
| UBE2A-related X-linked intellectual disability. | Stevenson RE et al. | β | 2019 | β |
| ZCCHC13-mediated induction of human liver cancer is associated with the modulation of DNA methylation and the AKT/ERK signaling pathway. | Li Z et al. | β | 2019 | β |
| A de novo in-frame deletion of CASK gene causes early onset infantile spasms and supratentorial cerebral malformation in a female patient. | Bozarth X et al. | β | 2018 | β |
| A whole genome sequence association study for puberty in a large DurocΒ ΓΒ Erhualian F2 population. | Xin WS et al. | β | 2018 | β |
| CXorf56, a dendritic neuronal protein, identified as a new candidate gene for X-linked intellectual disability. | Verkerk AJMH et al. | β | 2018 | β |
| De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females. | Palmer EE et al. | β | 2018 | β |
| Expanding the molecular basis and phenotypic spectrum of ZDHHC9-associated X-linked intellectual disability. | Schirwani S et al. | β | 2018 | β |
| Expanding the phenotypic spectrum associated with OPHN1 mutations: Report of 17 individuals with intellectual disability but no cerebellar hypoplasia. | Moortgat S et al. | β | 2018 | β |
| HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients. | Moortgat S et al. | β | 2018 | β |
| Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability. | McSherry M et al. | β | 2018 | β |
| Insights Into Protein <i>S</i>-Palmitoylation in Synaptic Plasticity and Neurological Disorders: Potential and Limitations of Methods for Detection and Analysis. | ZarΔba-KozioΕ M et al. | β | 2018 | β |
| Intragenic Microdeletion of ULK4 and Partial Microduplication of BRWD3 in Siblings with Neuropsychiatric Features and Obesity. | Tassano E et al. | β | 2018 | β |
| Mapping the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability. | Zablotskaya A et al. | β | 2018 | β |
| Molecular genetics βcharacterization and homology modeling of the CHM gene mutation: A study on its association with choroideremia. | Imani S et al. | β | 2018 | β |
| Neurodevelopmental synaptopathies: Insights from behaviour in rodent models of synapse gene mutations. | Luo J et al. | β | 2018 | β |
| SYT1-associated neurodevelopmental disorder: a case series. | Baker K et al. | β | 2018 | β |
| X-Linked Sensorineural Hearing Loss: A Literature Review. | Corvino V et al. | β | 2018 | β |
| A chromosome 16p13.11 microduplication causes hyperactivity through dysregulation of miR-484/protocadherin-19 signaling. | Fujitani M et al. | β | 2017 | β |
| A functional strategy to characterize expression Quantitative Trait Loci. | Grassi E et al. | β | 2017 | β |
| Altered synaptobrevin-II trafficking in neurons expressing a synaptophysin mutation associated with a severe neurodevelopmental disorder. | Harper CB et al. | β | 2017 | β |
| A maternally inherited 8.05Β Mb Xq21 deletion associated with Choroideremia, deafness, and mental retardation syndrome in a male patient. | Liang S et al. | β | 2017 | β |
| Calcium/calmodulin-dependent serine protein kinase (CASK), a protein implicated in mental retardation and autism-spectrum disorders, interacts with T-Brain-1 (TBR1) to control extinction of associative memory in male mice. | Huang TN et al. | β | 2017 | β |
| Calcium/calmodulin-dependent serine protein kinase CASK modulates the L-type calcium current. | Nafzger S et al. | β | 2017 | β |
| Characterization of chromosomal abnormalities in pregnancy losses reveals critical genes and loci for human early development. | Chen Y et al. | β | 2017 | β |
| Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH). | Hayashi S et al. | β | 2017 | β |
| Developing and applying the adverse outcome pathway concept for understanding and predicting neurotoxicity. | Bal-Price A et al. | β | 2017 | β |
| EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO. | Skopkova M et al. | β | 2017 | β |
| Functional Evaluation of an IKBKG Variant Suspected to Cause Immunodeficiency Without Ectodermal Dysplasia. | Frans G et al. | β | 2017 | β |
| <i>ARHGEF9</i> mutations cause a specific recognizable X-linked intellectual disability syndrome. | Striano P et al. | β | 2017 | β |
| Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome. | Quartier A et al. | β | 2017 | β |
| Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy. | Lehman A et al. | β | 2017 | β |
| Mixed Neurodevelopmental and Neurodegenerative Pathology in <i>Nhe6</i>-Null Mouse Model of Christianson Syndrome. | Xu M 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 |
| Neurogenetic analysis of childhood disintegrative disorder. | Gupta AR et al. | β | 2017 | β |
| Rett-like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5-related disease. | Allou L et al. | β | 2017 | β |
| Somatic Mosaicism of PCDH19 in a male with early infantile epileptic encephalopathy and review of the literature. | Perez D et al. | β | 2017 | β |
| Strategies to identify natural antisense transcripts. | Sun Y et al. | β | 2017 | β |
| Synaptic Interactome Mining Reveals p140Cap as a New Hub for PSD Proteins Involved in Psychiatric and Neurological Disorders. | Alfieri A et al. | β | 2017 | β |
| Syndrome of X linked intellectual disability, epilepsy, progressive brain atrophy and large head associated with <i>SLC9A6</i> mutation. | Padmanabha H et al. | β | 2017 | β |
| The first patient with sporadic X-linked intellectual disability with de novo ZDHHC9 mutation identified by targeted next-generation sequencing. | Han JY et al. | β | 2017 | β |
| The Use of Next-Generation Sequencing for Research and Diagnostics for Intellectual Disability. | Harripaul R et al. | β | 2017 | β |
| Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability. | Grau C et al. | β | 2017 | β |
| A Christianson syndrome-linked deletion mutation (β(287)ES(288)) in SLC9A6 disrupts recycling endosomal function and elicits neurodegeneration and cell death. | Ilie A et al. | β | 2016 | β |
| A Consensus Network of Gene Regulatory Factors in the Human Frontal Lobe. | Berto S et al. | β | 2016 | β |
| Advances in understanding - genetic basis of intellectual disability. | Chiurazzi P et al. | β | 2016 | β |
| A novel <i>HCFC1</i> variant in male siblings with intellectual disability and microcephaly in the absence of cobalamin disorder. | Koufaris C et al. | β | 2016 | β |
| A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability. | Madrigal I et al. | β | 2016 | β |
| Clinical and molecular characterization of a boy with intellectual disability, facial dysmorphism, minor digital anomalies and a complex IL1RAPL1 intragenic rearrangement. | Laino L et al. | β | 2016 | β |
| CNV analysis in Chinese children of mental retardation highlights a sex differentiation in parental contribution to de novo and inherited mutational burdens. | Wang B et al. | β | 2016 | β |
| De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations. | Reijnders MR et al. | β | 2016 | β |
| Emerging roles of NaβΊ/HβΊ exchangers in epilepsy and developmental brain disorders. | Zhao H et al. | β | 2016 | β |
| Emery-Dreifuss muscular dystrophy mutations impair TRC40-mediated targeting of emerin to the inner nuclear membrane. | Pfaff J et al. | β | 2016 | β |
| Endosomal system genetics and autism spectrum disorders: A literature review. | Patak J et al. | β | 2016 | β |
| FARVATX: Family-Based Rare Variant Association Test for X-Linked Genes. | Choi S et al. | β | 2016 | β |
| Interstitial deletion of 7q22.1q31.1 in a boy with structural brain abnormality, cardiac defect, developmental delay, and dysmorphic features. | Katz OL et al. | β | 2016 | β |
| IQ Motif and SEC7 Domain-containing Protein 3 (IQSEC3) Interacts with Gephyrin to Promote Inhibitory Synapse Formation. | Um JW et al. | β | 2016 | β |
| Mechanistic basis of MAGUK-organized complexes in synaptic development and signalling. | Zhu J et al. | β | 2016 | β |
| Molecular and Neural Functions of Rai1, the Causal Gene for Smith-Magenis Syndrome. | Huang WH et al. | β | 2016 | β |
| Mutations in epigenetic regulators are involved in acute lymphoblastic leukemia relapse following allogeneic hematopoietic stem cell transplantation. | Xiao H et al. | β | 2016 | β |
| Novel ATRX gene damaging missense mutation c.6740A>C segregates with profound to severe intellectual deficiency without alpha thalassaemia. | Bouazzi H et al. | β | 2016 | β |
| Novel genetic causes for cerebral visual impairment. | Bosch DG et al. | β | 2016 | β |
| Palmitoylation in Alzheimer's disease and other neurodegenerative diseases. | Cho E et al. | β | 2016 | β |
| PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations. | Choi R et al. | β | 2016 | β |
| Structural Variant Detection by Large-scale Sequencing Reveals New Evolutionary Evidence on Breed Divergence between Chinese and European Pigs. | Zhao P et al. | β | 2016 | β |
| The Genetic Basis of Hydrocephalus. | Kousi M et al. | β | 2016 | β |
| The Involvement of Neuron-Specific Factors in Dendritic Spinogenesis: Molecular Regulation and Association with Neurological Disorders. | Hu HT et al. | β | 2016 | β |
| The iTRAPs: Guardians of Synaptic Vesicle Cargo Retrieval During Endocytosis. | Gordon SL et al. | β | 2016 | β |
| The Spectrum of CHM Gene Mutations in Choroideremia and Their Relationship to Clinical Phenotype. | Simunovic MP et al. | β | 2016 | β |
| Tspyl2 Loss-of-Function Causes Neurodevelopmental Brain and Behavior Abnormalities in Mice. | Li Q et al. | β | 2016 | β |
| Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy. | Moortgat S et al. | β | 2016 | β |
| X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. | Hu H et al. | β | 2016 | β |
| X-linked Christianson syndrome: heterozygous female Slc9a6 knockout mice develop mosaic neuropathological changes and related behavioral abnormalities. | Sikora J et al. | β | 2016 | β |
| Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. | Alazami AM et al. | β | 2015 | β |
| Analysis of hedgehog signaling in cerebellar granule cell precursors in a conditional Nsdhl allele demonstrates an essential role for cholesterol in postnatal CNS development. | Cunningham D et al. | β | 2015 | β |
| A novel 47.2 Mb duplication on chromosomal bands Xq21.1-25 associated with mental retardation. | Jin Z et al. | β | 2015 | β |
| A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome. | Preiksaitiene E et al. | β | 2015 | β |
| A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A. | Corbett MA et al. | β | 2015 | β |
| Architecture of the Synaptophysin/Synaptobrevin Complex: Structural Evidence for an Entropic Clustering Function at the Synapse. | Adams DJ et al. | β | 2015 | β |
| Complexity and diversity of F8 genetic variations in the 1000 genomes. | Li JN et al. | β | 2015 | β |
| Delineation of the KIAA2022 mutation phenotype: two patients with X-linked intellectual disability and distinctive features. | Kuroda Y et al. | β | 2015 | β |
| Epilepsy, cognitive deficits and neuroanatomy in males with ZDHHC9 mutations. | Baker K et al. | β | 2015 | β |
| Hippocampal synaptic connectivity in phenylketonuria. | Horling K et al. | β | 2015 | β |
| Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling. | Baker K et al. | β | 2015 | β |
| Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease. | Roberts AM et al. | β | 2015 | β |
| La FAM fatale: USP9X in development and disease. | Murtaza M et al. | β | 2015 | β |
| Lysosomal storage disease in the brain: mutations of the Ξ²-mannosidase gene identified in autosomal dominant nystagmus. | Yu P et al. | β | 2015 | β |
| Missense Mutation R338W in ARHGEF9 in a Family with X-linked Intellectual Disability with Variable Macrocephaly and Macro-Orchidism. | Long P et al. | β | 2015 | β |
| Multiple congenital anomalies in two boys with mutation in HCFC1 and cobalamin disorder. | GΓ©rard M et al. | β | 2015 | β |
| NAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairment. | Casey JP et al. | β | 2015 | β |
| Next-generation sequencing in X-linked intellectual disability. | Tzschach A et al. | β | 2015 | β |
| Nonsyndromic X-linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)]. | Bouazzi H et al. | β | 2015 | β |
| Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis. | Ramos-Brossier M et al. | β | 2015 | β |
| Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature. | Nizon M 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 |
| Phenotypic and molecular insights into CASK-related disorders in males. | Moog U et al. | β | 2015 | β |
| Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis. | Rossi M et al. | β | 2015 | β |
| Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase. | Paemka L et al. | β | 2015 | β |
| Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. | Grozeva D et al. | β | 2015 | β |
| The Na+/H+ exchanger NHE6 modulates endosomal pH to control processing of amyloid precursor protein in a cell culture model of Alzheimer disease. | Prasad H et al. | β | 2015 | β |
| The RBMX gene as a candidate for the Shashi X-linked intellectual disability syndrome. | Shashi V et al. | β | 2015 | β |
| UBE2A deficiency syndrome: a report of two unrelated cases with large Xq24 deletions encompassing UBE2A gene. | Thunstrom S et al. | β | 2015 | β |
| ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons. | May M et al. | β | 2015 | β |
| 20 ans aprΓ¨s: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition. | Piton A et al. | β | 2014 | β |
| Accounting for eXentricities: analysis of the X chromosome in GWAS reveals X-linked genes implicated in autoimmune diseases. | Chang D et al. | β | 2014 | β |
| A de novo CASK mutation in pontocerebellar hypoplasia type 3 with early myoclonic epilepsy and tetralogy of Fallot. | Nakamura K et al. | β | 2014 | β |
| An inside job: how endosomal Na(+)/H(+) exchangers link to autism and neurological disease. | Kondapalli KC et al. | β | 2014 | β |
| A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans. | Brooks SS et al. | β | 2014 | β |
| AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome). | Cacciagli P et al. | β | 2014 | β |
| CASK and CaMKII function in Drosophila memory. | Malik BR et al. | β | 2014 | β |
| Clinical Presentation and Microarray Analysis of Peruvian Children with Atypical Development and/or Aberrant Behavior. | Butler MG et al. | β | 2014 | β |
| Comprehensive evaluation of the child with intellectual disability or global developmental delays. | Moeschler JB et al. | β | 2014 | β |
| Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability. | Londin ER et al. | β | 2014 | β |
| Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome. | Zemojtel T et al. | β | 2014 | β |
| Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. | Redin C et al. | β | 2014 | β |
| Fragile X syndrome due to a missense mutation. | Myrick LK et al. | β | 2014 | β |
| Genes for endosomal NHE6 and NHE9 are misregulated in autism brains. | Schwede M et al. | β | 2014 | β |
| Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome. | Pescosolido MF et al. | β | 2014 | β |
| Genetics of cognition in epilepsy. | Busch RM et al. | β | 2014 | β |
| Inaugural Christianson Syndrome Association conference: families meeting for the first time. | Stein DM et al. | β | 2014 | β |
| Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease. | Conte MI et al. | β | 2014 | β |
| Intellectual disability and autism spectrum disorders: causal genes and molecular mechanisms. | Srivastava AK et al. | β | 2014 | β |
| Interleukin 1 receptor-associated kinase 1 (IRAK1) mutation is a common, essential driver for Kaposi sarcoma herpesvirus lymphoma. | Yang D et al. | β | 2014 | β |
| Intragenic rearrangements in X-linked intellectual deficiency: results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes. | Mignon-Ravix C et al. | β | 2014 | β |
| KDM5C mutational screening among males with intellectual disability suggestive of X-Linked inheritance and review of the literature. | GonΓ§alves TF et al. | β | 2014 | β |
| Making headway with genetic diagnostics of intellectual disabilities. | Willemsen MH et al. | β | 2014 | β |
| Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel. | Brett M et al. | β | 2014 | β |
| Migrating partial seizures in infancy and 47XYY syndrome: Cause or coincidence? | Iyer RS et al. | β | 2014 | β |
| Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures. | Baple EL et al. | β | 2014 | β |
| Mutations in the X-linked intellectual disability gene, zDHHC9, alter autopalmitoylation activity by distinct mechanisms. | Mitchell DA et al. | β | 2014 | β |
| Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth. | Homan CC et al. | β | 2014 | β |
| Mutations in zinc finger 407 [ZNF407] cause a unique autosomal recessive cognitive impairment syndrome. | Kambouris M et al. | β | 2014 | β |
| Neuronal excitation upregulates Tbr1, a high-confidence risk gene of autism, mediating Grin2b expression in the adult brain. | Chuang HC et al. | β | 2014 | β |
| Novel approaches for targeting kinases: allosteric inhibition, allosteric activation and pseudokinases. | Cowan-Jacob SW et al. | β | 2014 | β |
| Regulation of histone H3K4 methylation in brain development and disease. | Shen E et al. | β | 2014 | β |
| Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster. | Santoni FA et al. | β | 2014 | β |
| Targeted deep resequencing identifies MID2 mutation for X-linked intellectual disability with varied disease severity in a large kindred from India. | Geetha TS et al. | β | 2014 | β |
| The genetics of Mullerian aplasia. | Layman LC | β | 2014 | β |
| The nucleosome assembly protein TSPYL2 regulates the expression of NMDA receptor subunits GluN2A and GluN2B. | Tsang KH et al. | β | 2014 | β |
| The Sybtraps: control of synaptobrevin traffic by synaptophysin, Ξ±-synuclein and AP-180. | Gordon SL et al. | β | 2014 | β |
| Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients. | LaDuca H et al. | β | 2014 | β |
| X chromosome exome sequencing reveals a novel ALG13 mutation in a nonsyndromic intellectual disability family with multiple affected male siblings. | Bissar-Tadmouri N et al. | β | 2014 | β |
| X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes. | Philips AK et al. | β | 2014 | β |
| A novel interaction between FRMD7 and CASK: evidence for a causal role in idiopathic infantile nystagmus. | Watkins RJ et al. | β | 2013 | β |
| A novel predicted calcium-regulated kinase family implicated in neurological disorders. | Dudkiewicz M et al. | β | 2013 | β |
| An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome. | TΓΌmer Z | β | 2013 | β |
| CASK and CaMKII function in the mushroom body Ξ±'/Ξ²' neurons during Drosophila memory formation. | Malik BR et al. | β | 2013 | β |
| CASK regulates CaMKII autophosphorylation in neuronal growth, calcium signaling, and learning. | Gillespie JM et al. | β | 2013 | β |
| Christianson syndrome protein NHE6 modulates TrkB endosomal signaling required for neuronal circuit development. | Ouyang Q et al. | β | 2013 | β |
| Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders. | van Harssel JJ et al. | β | 2013 | β |
| Clinical utility of the X-chromosome array. | Zarate YA et al. | β | 2013 | β |
| Clinical whole-exome sequencing for the diagnosis of mendelian disorders. | Yang Y et al. | β | 2013 | β |
| Development of neurodevelopmental disorders: a regulatory mechanism involving bromodomain-containing proteins. | Li J et al. | β | 2013 | β |
| Disease-gene discovery by integration of 3D gene expression and transcription factor binding affinities. | Piro RM et al. | β | 2013 | β |
| DNA sequencing methods in human genetics and disease research. | Lehrach H | β | 2013 | β |
| Exome sequencing identifies UPF3B as the causative gene for a Chinese non-syndrome mental retardation pedigree. | Xu X et al. | β | 2013 | β |
| Genetic basis of intellectual disability. | Ellison JW et al. | β | 2013 | β |
| HUWE1 mutation explains phenotypic severity in a case of familial idiopathic intellectual disability. | Isrie M et al. | β | 2013 | β |
| Identification, functional analysis, prevalence and treatment of monocarboxylate transporter 8 (MCT8) mutations in a cohort of adult patients with mental retardation. | Visser WE et al. | β | 2013 | β |
| Loss of Usp9x disrupts cortical architecture, hippocampal development and TGFΞ²-mediated axonogenesis. | Stegeman S et al. | β | 2013 | β |
| Maternal endotoxin exposure results in abnormal neuronal architecture in the newborn rabbit. | Balakrishnan B et al. | β | 2013 | β |
| Sterol metabolism disorders and neurodevelopment-an update. | Kanungo S et al. | β | 2013 | β |
| Structural constraints and functional divergences in CASK evolution. | LaConte L et al. | β | 2013 | β |
| The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability. | Vandewalle J et al. | β | 2013 | β |
| Tracking brain palmitoylation change: predominance of glial change in a mouse model of Huntington's disease. | Wan J et al. | β | 2013 | β |
| Update on the investigation of children with delayed development. | Silove N et al. | β | 2013 | β |
| XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing. | Piton A et al. | β | 2013 | β |
| XLID CUL4B mutants are defective in promoting TSC2 degradation and positively regulating mTOR signaling in neocortical neurons. | Wang HL et al. | β | 2013 | β |
| X-linked intellectual disability-associated mutations in synaptophysin disrupt synaptobrevin II retrieval. | Gordon SL et al. | β | 2013 | β |
| X-linked intellectual disability gene CUL4B targets Jab1/CSN5 for degradation and regulates bone morphogenetic protein signaling. | He F et al. | β | 2013 | β |
| Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE. | Nava C et al. | β | 2012 | β |
| Analyzing genomic data: understanding the genome | FernΓ‘ndez-SuΓ‘rez XM | β | 2012 | β |
| Annotate-it: a Swiss-knife approach to annotation, analysis and interpretation of single nucleotide variation in human disease. | Sifrim A et al. | β | 2012 | β |
| A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability. | Huang L et al. | β | 2012 | β |
| A novel c.2TΒ >Β C mutation of the KDM5C/JARID1C gene in one large family with X-linked intellectual disability. | Ounap K et al. | β | 2012 | β |
| An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity. | Takano K et al. | β | 2012 | β |
| CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia. | Saitsu H et al. | β | 2012 | β |
| CCDC22: a novel candidate gene for syndromic X-linked intellectual disability. | Voineagu I et al. | β | 2012 | β |
| Comparative analysis of Neph gene expression in mouse and chicken development. | VΓΆlker LA et al. | β | 2012 | β |
| Computational approaches to disease-gene prediction: rationale, classification and successes. | Piro RM et al. | β | 2012 | β |
| Critical region in 2q31.2q32.3 deletion syndrome: Report of two phenotypically distinct patients, one with an additional deletion in Alagille syndrome region. | Ferreira SI et al. | β | 2012 | β |
| Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome. | Basel-Vanagaite L et al. | β | 2012 | β |
| Deletion of the AP1S2 gene in a child with psychomotor delay and hypotonia. | Ballarati L et al. | β | 2012 | β |
| Disorders of sterol synthesis: beyond Smith-Lemli-Opitz syndrome. | Herman GE et al. | β | 2012 | β |
| Disruption of RAB40AL function leads to Martin--Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder. | Bedoyan JK et al. | β | 2012 | β |
| eIF2Ξ³ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation. | Borck G et al. | β | 2012 | β |
| Excess variants in AFF2 detected by massively parallel sequencing of males with autism spectrum disorder. | Mondal K et al. | β | 2012 | β |
| Exome sequencing: a transient technology for molecular diagnostics? | Ku CS et al. | β | 2012 | β |
| Genetic biomarkers of hypertension and future challenges integrating epigenomics. | El Shamieh S et al. | β | 2012 | β |
| Genetic investigation for adults with intellectual disability: opportunities and challenges. | Baker K et al. | β | 2012 | β |
| Genetic variation in the epigenetic machinery and mental health. | Murgatroyd C et al. | β | 2012 | β |
| Genomics, intellectual disability, and autism. | Mefford HC et al. | β | 2012 | β |
| Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability. | Hoyer J et al. | β | 2012 | β |
| Identification of novel genes involved in migraine. | LafreniΓ¨re RG et al. | β | 2012 | β |
| Long-term alterations to the brain transcriptome in a maternal voluntary consumption model of fetal alcohol spectrum disorders. | Kleiber ML et al. | β | 2012 | β |
| Microdeletion and microduplication syndromes. | Vissers LE et al. | β | 2012 | β |
| Neuroprotective effects of lutein in the retina. | Ozawa Y et al. | β | 2012 | β |
| New mutations and sporadic intellectual disability. | Gecz J et al. | β | 2012 | β |
| Novel AGTR2 missense mutation in a Japanese boy with severe mental retardation, pervasive developmental disorder, and epilepsy. | Takeshita E et al. | β | 2012 | β |
| Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH). | Hayashi S et al. | β | 2012 | β |
| PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder. | Depienne C et al. | β | 2012 | β |
| Rare and common variants: twenty arguments. | Gibson G | β | 2012 | β |
| Roles of intracellular fibroblast growth factors in neural development and functions. | Zhang X et al. | β | 2012 | β |
| Searching for Copy Number Changes in Nonsyndromic X-Linked Intellectual Disability. | Utine GE et al. | β | 2012 | β |
| 'Sifting the significance from the data' - the impact of high-throughput genomic technologies on human genetics and health care. | Clarke AJ et al. | β | 2012 | β |
| Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient. | Burglen L et al. | β | 2012 | β |
| Technological advances in DNA sequence enrichment and sequencing for germline genetic diagnosis. | Ku CS et al. | β | 2012 | β |
| Testing rare variants for association with diseases: a Bayesian marker selection approach. | Zhang L et al. | β | 2012 | β |
| The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria. | Johnston JJ et al. | β | 2012 | β |
| The polymorphism p.G219R of CD40L does not cause immunological alterations in vivo: conclusions from a X-linked hyper IgM syndrome kindred. | Martinez-Martinez L et al. | β | 2012 | β |
| Zebrafish as a genomics model for human neurological and polygenic disorders. | Becker TS et al. | β | 2012 | β |
| A child with mild X-linked intellectual disability and a microduplication at Xp22.12 including RPS6KA3. | Tejada MI et al. | β | 2011 | β |
| A computational approach to candidate gene prioritization for X-linked mental retardation using annotation-based binary filtering and motif-based linear discriminatory analysis. | Lombard Z et al. | β | 2011 | β |
| A missense mutation in CLIC2 associated with intellectual disability is predicted by in silico modeling to affect protein stability and dynamics. | Witham S et al. | β | 2011 | β |
| An atlas of tissue-specific conserved coexpression for functional annotation and disease gene prediction. | Piro RM et al. | β | 2011 | β |
| Association of -27T>C and its haplotype at the putative promoter for IgA-specific receptor gene with IgA nephropathy among the Chinese Han population. | Huang W et al. | β | 2011 | β |
| A versatile player. | Hsueh YP | β | 2011 | β |
| Biparental inheritance of chromosomal abnormalities in male twins with non-syndromic mental retardation. | Gilling M et al. | β | 2011 | β |
| Christianson syndrome in a patient with an interstitial Xq26.3 deletion. | Tzschach A et al. | β | 2011 | β |
| Contactins: structural aspects in relation to developmental functions in brain disease. | Zuko A et al. | β | 2011 | β |
| Cullin 4B protein ubiquitin ligase targets peroxiredoxin III for degradation. | Li X et al. | β | 2011 | β |
| Decanalization, brain development and risk of schizophrenia. | McGrath JJ et al. | β | 2011 | β |
| Deep sequencing reveals 50 novel genes for recessive cognitive disorders. | Najmabadi H et al. | β | 2011 | β |
| Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism. | Filges I et al. | β | 2011 | β |
| De novo Xq11.11 microdeletion including ARHGEF9 in a boy with mental retardation, epilepsy, macrosomia, and dysmorphic features. | Lesca G et al. | β | 2011 | β |
| DIA1R is an X-linked gene related to Deleted In Autism-1. | Aziz A et al. | β | 2011 | β |
| Electroclinical findings in four patients with karyotype 47,XYY. | Torniero C et al. | β | 2011 | β |
| Exome sequencing and the genetics of intellectual disability. | Topper S et al. | β | 2011 | β |
| Familial intellectual disability and autistic behavior caused by a small FMR2 gene deletion. | Stettner GM et al. | β | 2011 | β |
| Fine mapping of Xq11.1-q21.33 and mutation screening of RPS6KA6, ZNF711, ACSL4, DLG3, and IL1RAPL2 for autism spectrum disorders (ASD). | KantojΓ€rvi K et al. | β | 2011 | β |
| Genetic and epigenetic networks in intellectual disabilities. | van Bokhoven H | β | 2011 | β |
| Genetic counselling for personalised medicine. | Clarke A et al. | β | 2011 | β |
| Genome arrays for the detection of copy number variations in idiopathic mental retardation, idiopathic generalized epilepsy and neuropsychiatric disorders: lessons for diagnostic workflow and research. | Hochstenbach R et al. | β | 2011 | β |
| Genomic medicine and neurological disease. | Boone PM et al. | β | 2011 | β |
| Human X-linked variable immunodeficiency caused by a hypomorphic mutation in XIAP in association with a rare polymorphism in CD40LG. | Rigaud S et al. | β | 2011 | β |
| Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1. | Jensen LR et al. | β | 2011 | β |
| Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP. | Ropers F et al. | β | 2011 | β |
| Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing. | Wang W et al. | β | 2011 | β |
| In-silico human genomics with GeneCards. | Stelzer G et al. | β | 2011 | β |
| Liprin-mediated large signaling complex organization revealed by the liprin-Ξ±/CASK and liprin-Ξ±/liprin-Ξ² complex structures. | Wei Z et al. | β | 2011 | β |
| Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy. | Shimojima K et al. | β | 2011 | β |
| LOVD v.2.0: the next generation in gene variant databases. | Fokkema IF et al. | β | 2011 | β |
| Malformation syndromes caused by disorders of cholesterol synthesis. | Porter FD et al. | β | 2011 | β |
| Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability. | Strobl-Wildemann G et al. | β | 2011 | β |
| Novel genomic techniques open new avenues in the analysis of monogenic disorders. | KuhlenbΓ€umer G et al. | β | 2011 | β |
| Phenotypic spectrum associated with CASK loss-of-function mutations. | Moog U et al. | β | 2011 | β |
| Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry. | Hunt KA et al. | β | 2011 | β |
| Resequencing DCDC5 in the Flanking Region of an LD-SNP Derived from a Kidney-Yang Deficiency Syndrome Family. | Zhou LP et al. | β | 2011 | β |
| RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patients. | So MT et al. | β | 2011 | β |
| Synaptophysin regulates the kinetics of synaptic vesicle endocytosis in central neurons. | Kwon SE et al. | β | 2011 | β |
| Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia. | Piton A et al. | β | 2011 | β |
| Tandem SAM domain structure of human Caskin1: a presynaptic, self-assembling scaffold for CASK. | Stafford RL et al. | β | 2011 | β |
| Targeted deletion of CASK-interacting nucleosome assembly protein causes higher locomotor and exploratory activities. | Chung WC et al. | β | 2011 | β |
| Targeted sequencing of the human X chromosome exome. | Mondal K et al. | β | 2011 | β |
| The molecular basis of the Caskin1 and Mint1 interaction with CASK. | Stafford RL et al. | β | 2011 | β |
| Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria. | Murdock DR et al. | β | 2011 | β |
| X-chromosome duplications in males with mental retardation: pathogenic or benign variants? | Gijsbers AC et al. | β | 2011 | β |
| A de novo duplication of Xp11.22-p11.4 in a girl with intellectual disability, structural brain anomalies, and preferential inactivation of the normal X chromosome. | Holden ST et al. | β | 2010 | β |
| A de novo paradigm for mental retardation. | Vissers LE et al. | β | 2010 | β |
| A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C. | Jensen LR et al. | β | 2010 | β |
| A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24. | Corbett MA et al. | β | 2010 | β |
| A functional link between the histone demethylase PHF8 and the transcription factor ZNF711 in X-linked mental retardation. | Kleine-Kohlbrecher D et al. | β | 2010 | β |
| A novel nonsense mutation in CUL4B gene in three brothers with X-linked mental retardation syndrome. | Badura-Stronka M et al. | β | 2010 | β |
| Candidate gene prioritization based on spatially mapped gene expression: an application to XLMR. | Piro RM et al. | β | 2010 | β |
| CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes. | Hackett A et al. | β | 2010 | β |
| CASK phosphorylation by PKA regulates the protein-protein interactions of CASK and expression of the NMDAR2b gene. | Huang TN et al. | β | 2010 | β |
| Copy-number variations on the X chromosome in Japanese patients with mental retardation detected by array-based comparative genomic hybridization analysis. | Honda S et al. | β | 2010 | β |
| Deep sequencing of target linkage assay-identified regions in familial breast cancer: methods, analysis pipeline and troubleshooting. | Rosa-Rosa JM et al. | β | 2010 | β |
| Deletion of the CUL4B gene in a boy with mental retardation, minor facial anomalies, short stature, hypogonadism, and ataxia. | Isidor B et al. | β | 2010 | β |
| Detection of clinically relevant exonic copy-number changes by array CGH. | Boone PM et al. | β | 2010 | β |
| DHHC5 interacts with PDZ domain 3 of post-synaptic density-95 (PSD-95) protein and plays a role in learning and memory. | Li Y et al. | β | 2010 | β |
| Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. | Noor A et al. | β | 2010 | β |
| Disruption of the epigenetic code: an emerging mechanism in mental retardation. | van Bokhoven H et al. | β | 2010 | β |
| Efficient utilization of rare variants for detection of disease-related genomic regions. | Zhang L et al. | β | 2010 | β |
| Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families. | Hynes K et al. | β | 2010 | β |
| Evolutionary genomics of human intellectual disability. | Crespi B et al. | β | 2010 | β |
| Exome sequencing: the sweet spot before whole genomes. | Teer JK et al. | β | 2010 | β |
| Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability. | Whibley AC et al. | β | 2010 | β |
| Genetic factors in esophageal atresia, tracheo-esophageal fistula and the VACTERL association: roles for FOXF1 and the 16q24.1 FOX transcription factor gene cluster, and review of the literature. | Shaw-Smith C | β | 2010 | β |
| Genetics of early onset cognitive impairment. | Ropers HH | β | 2010 | β |
| Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis. | Vissers LE et al. | β | 2010 | β |
| Great expectations: using massively parallel sequencing to solve inherited disorders. | Corbett M et al. | β | 2010 | β |
| High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. | Calvo SE et al. | β | 2010 | β |
| Hippocampus development and function: role of epigenetic factors and implications for cognitive disease. | Lagali PS et al. | β | 2010 | β |
| Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome. | McLarren KW et al. | β | 2010 | β |
| Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation. | Rujirabanjerd S et al. | β | 2010 | β |
| Improved detection of rare genetic variants for diseases. | Zhang L et al. | β | 2010 | β |
| Locus-specific database domain and data content analysis: evolution and content maturation toward clinical use. | Mitropoulou C et al. | β | 2010 | β |
| Loss-of-function variants in the genomes of healthy humans. | MacArthur DG et al. | β | 2010 | β |
| Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate. | Johnston JJ et al. | β | 2010 | β |
| Medicine. The future of psychiatric research: genomes and neural circuits. | Akil H et al. | β | 2010 | β |
| Mental retardation, premature balding, small genitalia, small acra and small patellae in brothers: confirmation of an entity. | Vandersteen AM et al. | β | 2010 | β |
| Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability. | Shoubridge C et al. | β | 2010 | β |
| Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation. | Berkel S et al. | β | 2010 | β |
| Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly. | Giannandrea M et al. | β | 2010 | β |
| Next generation sequencing for clinical diagnostics-principles and application to targeted resequencing for hypertrophic cardiomyopathy: a paper from the 2009 William Beaumont Hospital Symposium on Molecular Pathology. | Voelkerding KV et al. | β | 2010 | β |
| Novel deletion at Xq24 including the UBE2A gene in a patient with X-linked mental retardation. | Honda S et al. | β | 2010 | β |
| Novel mutations in the sacsin gene in ataxia patients from Maritime Canada. | Guernsey DL et al. | β | 2010 | β |
| Phenotypic annotation of the mouse X chromosome. | Cox BJ et al. | β | 2010 | β |
| Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs). | Povey S et al. | β | 2010 | β |
| Recent advances in the genetics of mitochondrial encephalopathies. | Tucker EJ et al. | β | 2010 | β |
| Single gene disorders come into focus--again. | Ropers HH | β | 2010 | β |
| Subtle functional defects in the Arf-specific guanine nucleotide exchange factor IQSEC2 cause non-syndromic X-linked intellectual disability. | Shoubridge C et al. | β | 2010 | β |
| The genetic basis of non-syndromic intellectual disability: a review. | Kaufman L et al. | β | 2010 | β |
| The refinement of the critical region for the 2q31.2q32.3 deletion syndrome indicates candidate genes for mental retardation and speech impairment. | Cocchella A et al. | β | 2010 | β |
| Whole-genome sequencing of a laboratory-evolved yeast strain. | Araya CL et al. | β | 2010 | β |
| X-linked mental retardation gene CASK interacts with Bcl11A/CTIP1 and regulates axon branching and outgrowth. | Kuo TY et al. | β | 2010 | β |
| A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly. | Mochida GH et al. | β | 2009 | β |
| Calcium/calmodulin-dependent serine protein kinase and mental retardation. | Hsueh YP | β | 2009 | β |
| Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females. | Giorda R et al. | β | 2009 | β |
| CRL4s: the CUL4-RING E3 ubiquitin ligases. | Jackson S et al. | β | 2009 | β |
| Exome sequencing of a multigenerational human pedigree. | Hedges DJ et al. | β | 2009 | β |
| Lessons learnt from large-scale exon re-sequencing of the X chromosome. | Raymond FL et al. | β | 2009 | β |
| Massively parallel sequencing: the next big thing in genetic medicine. | Tucker T et al. | β | 2009 | β |
| Mining the x-chromosome for disease genes by deep resequencing. | McCabe ER | β | 2009 | β |
| Model organisms inform the search for the genes and developmental pathology underlying malformations of the human hindbrain. | Aldinger KA et al. | β | 2009 | β |
| Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing. | Hu H et al. | β | 2009 | β |
| Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer. | Tavtigian SV et al. | β | 2009 | β |
| The genetic landscape of intellectual disability arising from chromosome X. | GΓ©cz J et al. | β | 2009 | β |
| X-cess of variants in XLMR. | Nelson DL et al. | β | 2009 | β |
| X-linked intellectual disability: unique vulnerability of the male genome. | Stevenson RE et al. | β | 2009 | β |