Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.
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The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and OpportunitiesWhole-exome sequencing as a diagnostic tool in a family with episodic ataxia type 1.Diagnostic Exome Sequencing Identifies a Novel Gene, EMILIN1, Associated with Autosomal-Dominant Hereditary Connective Tissue DiseaseGene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial featuresExplorations to improve the completeness of exome sequencingClinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM10 alteration.Clinical Applicability of Whole-Exome Sequencing Exemplified by a Study in Young Adults with the Advanced Cryptogenic Cholestatic Liver Diseases.Next-generation diagnostics and disease-gene discovery with the ExomiserSpinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxiaA Coding Variant in the Gene Bardet-Biedl Syndrome 4 (BBS4) Is Associated with a Novel Form of Canine Progressive Retinal Atrophy.Mutations in HECW2 are associated with intellectual disability and epilepsyWhole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings.Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalitiesExome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.Genomic newborn screening: public health policy considerations and recommendations.POGZ truncating alleles cause syndromic intellectual disability.Clinical exome sequencing in neurogenetic and neuropsychiatric disordersOrthogonal NGS for High Throughput Clinical Diagnostics.Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast CancerMolecular diagnostic experience of whole-exome sequencing in adult patientsConcordance between whole-exome sequencing and clinical Sanger sequencing: implications for patient care.Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.Neuropsychiatric genomics in precision medicine: diagnostics, gene discovery, and translation.Diagnostic use of Massively Parallel Sequencing in Neuromuscular Diseases: Towards an Integrated Diagnosis.Clinical exome sequencing: results from 2819 samples reflecting 1000 families.De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsyCandidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.Lessons learned from additional research analyses of unsolved clinical exome cases.Genomic Testing: a Genetic Counselor's Personal Reflection on Three Years of Consenting and Testing.Genetics of Disorders of Sex Development: The DSD-TRN Experience.YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.Diagnostic Approach to Genetic Causes of Early-Onset Epileptic Encephalopathy.Axons to Exons: the Molecular Diagnosis of Rare Neurological Diseases by Next-Generation Sequencing.Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data.Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood.NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.DNM1 encephalopathy: A new disease of vesicle fission.
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Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.
description
2014 nî lūn-bûn
@nan
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
2014年论文
@zh
2014年论文
@zh-cn
name
Enhanced utility of family-cen ...... ndiagnosed genetic conditions.
@en
type
label
Enhanced utility of family-cen ...... ndiagnosed genetic conditions.
@en
prefLabel
Enhanced utility of family-cen ...... ndiagnosed genetic conditions.
@en
P2093
P2860
P356
P6366
P1433
P1476
Enhanced utility of family-cen ...... undiagnosed genetic conditions
@en
P2093
Aaron Elliott
Brigette Tippin Davis
Cameron Mroske
Charles L M Dunlop
David Ruble
David Salvador
Dima El-Khechen
Hsiao-Mei Lu
P2860
P2888
P304
P356
10.1038/GIM.2014.154
P407
P577
2014-11-13T00:00:00Z
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P6366
2005009098