New tools for Mendelian disease gene identification: PhenoDB variant analysis module; and GeneMatcher, a web-based tool for linking investigators with an interest in the same gene
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The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and OpportunitiesMutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing LossThe Matchmaker Exchange API: automating patient matching through the exchange of structured phenotypic and genotypic profilesThe Matchmaker Exchange: a platform for rare disease gene discoveryNovel COL2A1 variant (c.619G>A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu typeMatching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomaliesExome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rateGeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK.Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations.Joubert Syndrome in French Canadians and Identification of Mutations in CEP104A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex.Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.Lessons learned from additional research analyses of unsolved clinical exome cases.Axons to Exons: the Molecular Diagnosis of Rare Neurological Diseases by Next-Generation Sequencing.Genetics of movement disorders in the next-generation sequencing era.Building dialogues between clinical and biomedical research through cross-species collaborations.Sequencing-based diagnostics for pediatric genetic diseases: progress and potentialMutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy.De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort.GeneMatcher: a matching tool for connecting investigators with an interest in the same gene.Participant-driven matchmaking in the genomic era.Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research.Two novel germline DDX41 mutations in a family with inherited myelodysplasia/acute myeloid leukemia.Lessons learned from the search for genes responsible for rare Mendelian disorders.A novel PRRT2 pathogenic variant in a family with Paroxysmal Kinesigenic Dyskinesia and Benign Familial Infantile Seizures.De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.Matchmaker Exchange.Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities.Familial monophasic acute transverse myelitis due to the pathogenic variant in VPS37A.Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease.A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings.Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes.SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects
P2860
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P2860
New tools for Mendelian disease gene identification: PhenoDB variant analysis module; and GeneMatcher, a web-based tool for linking investigators with an interest in the same gene
description
2015 nî lūn-bûn
@nan
2015 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
name
New tools for Mendelian diseas ...... h an interest in the same gene
@ast
New tools for Mendelian diseas ...... h an interest in the same gene
@en
type
label
New tools for Mendelian diseas ...... h an interest in the same gene
@ast
New tools for Mendelian diseas ...... h an interest in the same gene
@en
prefLabel
New tools for Mendelian diseas ...... h an interest in the same gene
@ast
New tools for Mendelian diseas ...... h an interest in the same gene
@en
P2093
P2860
P356
P1433
P1476
New tools for Mendelian diseas ...... h an interest in the same gene
@en
P2093
Corinne Boehm
David Valle
François Schiettecatte
Nara Sobreira
P2860
P304
P356
10.1002/HUMU.22769
P50
P577
2015-04-01T00:00:00Z