Clinical whole-exome sequencing for the diagnosis of mendelian disorders. - Wikidata - wikimedia - TriplyDB

Clinical whole-exome sequencing for the diagnosis of mendelian disorders.

Clinical whole-exome sequencing for the diagnosis of mendelian disorders.

http://www.wikidata.org/entity/Q34413680

about

Characterization of X chromosome inactivation using integrated analysis of whole-exome and mRNA sequencing "Genotype-first" approaches on a curious case of idiopathic progressive cognitive decline Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death Achieving high-sensitivity for clinical applications using augmented exome sequencing A Balanced Look at the Implications of Genomic (and Other "Omics") Testing for Disease Diagnosis and Clinical Care Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP Novel bioinformatic developments for exome sequencing Recommendations on e-infrastructures for next-generation sequencing Clinical Genetic Testing in Gastroenterology Impact of New Genomic Technologies on Understanding Adverse Drug Reactions Phenotype-driven strategies for exome prioritization of human Mendelian disease genes.Clinical application of next-generation sequencing for Mendelian diseases The National Institutes of Health undiagnosed diseases program The diagnostic approach to monogenic very early onset inflammatory bowel disease Somatic mosaicism: implications for disease and transmission genetics Loss of Function Mutations in NNT Are Associated With Left Ventricular Noncompaction Structural variation mutagenesis of the human genome: Impact on disease and evolution.Omics-Based Strategies in Precision Medicine: Toward a Paradigm Shift in Inborn Errors of Metabolism Investigations Recent advances in prenatal genetic screening and testing Discovery of biomarkers in rare diseases: innovative approaches by predictive and personalized medicine New insights into the generation and role of de novo mutations in health and disease Next generation sequencing: Coping with rare genetic diseases in China Insights from exome sequencing for endocrine disorders TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations A Novel C-Terminal CIB2 (Calcium and Integrin Binding Protein 2) Mutation Associated with Non-Syndromic Hearing Loss in a Hispanic Family Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss Diagnostic Exome Sequencing Identifies a Novel Gene, EMILIN1, Associated with Autosomal-Dominant Hereditary Connective Tissue Disease Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers The population genomics of rhesus macaques (Macaca mulatta) based on whole-genome sequences Explorations to improve the completeness of exome sequencing High-throughput sequencing technologies A novel ERCC6 splicing variant associated with a mild Cockayne syndrome phenotype A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3 Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism An expanded sequence context model broadly explains variability in polymorphism levels across the human genome Individualized medicine from prewomb to tomb Diagnostic NGS for Severe Neuromuscular Disorders.

P2860

Q21131890-641F3C54-8A35-44B8-BF75-8BBA0CDE82AB Q21146677-14D5159E-8C25-4920-894C-E7DE84B4F81F Q21146705-586AC2A8-C91C-4140-A7C3-D7E08FC2BB8C Q22000581-0B98FC88-7A37-40FD-B444-10169566601F Q24273314-9DDD51E9-A6A5-42A7-9FF6-AA763254F5E7 Q24294551-9A906FB5-8F80-42A0-9B81-F8E57BAF6F9C Q24567998-50911524-8C18-48FF-A1BB-3F03099DA412 Q24658618-475AEFE7-7C60-45BF-8F69-320C0BF8F729 Q26748623-7AAEF614-42D0-4564-8EB6-155D969B4D50 Q26749157-F985CBA8-D2AE-46B5-B3D1-4F2031D26925 Q26787099-9C1EA62D-B8BB-4B18-8E40-EF39FFB7D767 Q26801094-AF847243-8B84-4607-ABFF-90A5FF6279A5 Q26851246-AECE39D6-9758-44D2-9B62-9A25D470BF5C Q26998733-A9614CAB-7006-4766-BEF9-82AE155710E5 Q27015077-6D58537F-706D-4EF8-B2AE-AE6C7B369B98 Q27016060-F82DE2E1-3F71-48DC-B832-55CB1DA84D60 Q27340446-1D574E67-4746-42DF-A9AF-8215479569AD Q27691419-F39D69CA-9E58-49DE-AAD4-12ECDEACF48D Q28068009-9B2471D4-2F15-4989-AB8C-BC737E398B67 Q28071888-11AE81C2-FD2C-4150-9B4D-B49B98CD143A Q28073248-8D0D7E20-C46A-40FB-882A-63B7487AE923 Q28073446-01F9D25D-7DD6-4113-BDE5-224691321392 Q28077918-7EB27607-373B-4F14-A10D-B27320C1EDF4 Q28088772-0500628C-DF4A-456D-8ADB-FB41E2C3A684 Q28116046-84AEE31D-989C-4BB7-8CF2-856C95474A3F Q28116130-591BAAA5-7564-4353-B3D8-E5187D290257 Q28116585-770B3921-682D-45BE-8763-AEFC66CBBFC5 Q28118528-DFB3E8B8-3360-44DA-87F7-C61DA49C23DC Q28118637-8725D907-D43D-43A0-9593-969DC49664E0 Q28118967-572A658A-E625-4082-BA74-4393A4BDC692 Q28119074-82959B3D-F832-4324-9771-6070CFD60062 Q28591103-1C17915B-4D6D-4FD4-ABFC-4C2B40908F9F Q28596922-6CD4CEAE-F4E6-4291-B54A-EECD526518AE Q28647379-038BA69E-9371-45D1-88BD-5A7457CA194F Q28649878-F31AE25A-A797-406D-A798-44CADF392370 Q29147508-D8849A83-66F3-4AB4-ABDB-E55DCF48E472 Q29147566-9B68CABF-3846-4E29-A0B5-7970E8895E79 Q29307337-26D007E8-8DAE-424E-8C87-182A75300B67 Q29525070-3875DA0B-6CE2-4BE5-991E-3DE64C3CB4DB Q30277234-7DC86932-8F77-4838-A94F-2AD0FFA34568

P2860

Clinical whole-exome sequencing for the diagnosis of mendelian disorders.

http://www.wikidata.org/entity/Q34413680

description

2013 nî lūn-bûn

@nan

2013 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2013 թվականի հոտեմբերին հրատարակված գիտական հոդված

@hy

2013年の論文

@ja

2013年論文

@yue

2013年論文

@zh-hant

2013年論文

@zh-hk

2013年論文

@zh-mo

2013年論文

@zh-tw

2013年论文

@wuu

name

Clinical whole-exome sequencing for the diagnosis of mendelian disorders.

@ast

Clinical whole-exome sequencing for the diagnosis of mendelian disorders.

@en

Clinical whole-exome sequencing for the diagnosis of mendelian disorders.

@nl

type

label

Clinical whole-exome sequencing for the diagnosis of mendelian disorders.

@ast

Clinical whole-exome sequencing for the diagnosis of mendelian disorders.

@en

Clinical whole-exome sequencing for the diagnosis of mendelian disorders.

@nl

prefLabel

Clinical whole-exome sequencing for the diagnosis of mendelian disorders.

@ast

Clinical whole-exome sequencing for the diagnosis of mendelian disorders.

@en

Clinical whole-exome sequencing for the diagnosis of mendelian disorders.

@nl

P1433

Q34413680-B7F4B2DA-E494-47BC-8EEE-C27B7ECFFF40

P1476

Q34413680-5C638AB6-C0D0-4FBB-A73E-9574E5505E1C

P2093

Q34413680-044BE3A3-8446-4FF4-81ED-7F829D291936

Q34413680-1F045EE1-E820-48D0-8E1E-681C6EF55F62

Q34413680-1F0A2014-17E7-44CF-903C-C19880A05B27

Q34413680-2974157D-F2C2-4C4D-98A7-EE89AE86179B

Q34413680-3042F88A-5C2D-40AC-8108-7FB83E0CC489

Q34413680-3477888D-91B9-4820-8909-2EBE714FB5EA

Q34413680-46C2BA75-2E8A-4488-94D2-C2A147BBA81C

Q34413680-500C0161-DB62-4339-8EDC-6810331A8237

Q34413680-565F76E1-157A-4A67-A7BC-C1B2C458A3CA

Q34413680-5D6A23E6-D4BB-4835-986D-0B734B102D32

P2860

Q34413680-00C9048E-4F54-430D-A1D0-27C8C1A429ED

Q34413680-0ADD8762-F589-4170-AC22-B39A90BB19FE

Q34413680-128E521D-025B-40F4-9585-D65A93170FE6

Q34413680-1D41EE0F-D87C-4C60-A152-AFD546E08B6F

Q34413680-22F09D15-AFD9-432D-B651-759BEE9037E7

Q34413680-24858361-F6B2-4853-8C22-7DC9F2FD6558

Q34413680-2A2D46BF-19CA-4F8D-AE85-45704358E311

Q34413680-2D55CADF-E2F6-4368-9736-13B70B65D5CD

Q34413680-34188B53-2703-443C-8502-07B7091361F8

Q34413680-69FE404A-D171-40B9-B253-2336BBFC808A

P304

Q34413680-87995614-A291-4BF0-A882-9FD0B11F04C9

P31

Q34413680-9F4F6C08-EE89-42D8-82BC-997F455A51D2

P356

Q34413680-A7BB2088-0C24-4ECF-9EE9-58F300327935

P407

Q34413680-77CDA6CF-2479-4EFE-9299-23FB8F91A9E0

P433

Q34413680-0B4DDFEC-220F-41B2-A272-EB754DC13EAC

P478

Q34413680-1DA72378-A0D7-4F70-AE60-CA00CEAFE172

P577

Q34413680-DB6A04C1-8732-431B-8BB9-0C7D33CBAB84

P698

Q34413680-DA4A0E97-9AC3-461E-ACFF-888C74F3AC0A

P921

Q34413680-e4627b95-e72b-420a-b4f3-be039e5c32e6

P932

Q34413680-044B0281-0CE3-4C0C-8C23-C5F5FE4511D5

P356

P1433

The New England Journal of Medicine

P1476

Clinical whole-exome sequencing for the diagnosis of mendelian disorders.

@en

P2093

Alecia Willis

http://www.w3.org/2001/XMLSchema#string

Alicia Braxton

http://www.w3.org/2001/XMLSchema#string

Amelia Kirby

http://www.w3.org/2001/XMLSchema#string

Arthur L Beaudet

http://www.w3.org/2001/XMLSchema#string

Christine M Eng

http://www.w3.org/2001/XMLSchema#string

Donna M Muzny

http://www.w3.org/2001/XMLSchema#string

Fan Xia

http://www.w3.org/2001/XMLSchema#string

James R Lupski

http://www.w3.org/2001/XMLSchema#string

Jeffrey G Reid

http://www.w3.org/2001/XMLSchema#string

Jennifer Scull

http://www.w3.org/2001/XMLSchema#string

P2860

Human genome sequencing in health and disease

HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Targeted capture and massively parallel sequencing of 12 human exomes

A map of human genome variation from population-scale sequencing

Carrier screening in individuals of Ashkenazi Jewish descent

Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation

Fast and accurate short read alignment with Burrows-Wheeler transform

The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

P304

1502-1511

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1056/NEJMOA1306555

http://www.w3.org/2001/XMLSchema#string

P407

P433

16

http://www.w3.org/2001/XMLSchema#string

P478

369

http://www.w3.org/2001/XMLSchema#string

P577

2013-10-02T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

24088041

http://www.w3.org/2001/XMLSchema#string

P921

P932

4211433

http://www.w3.org/2001/XMLSchema#string