Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data-Reference-Cited by-同舟云学术

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

Published:2015-04 Issue:9975 Volume:385 Page:1305-1314
ISSN:0140-6736
Container-title:The Lancet
language:en
Short-container-title:The Lancet

Author:

Wright Caroline F,Fitzgerald Tomas W,Jones Wendy D,Clayton Stephen,McRae Jeremy F,van Kogelenberg Margriet,King Daniel A,Ambridge Kirsty,Barrett Daniel M,Bayzetinova Tanya,Bevan A Paul,Bragin Eugene,Chatzimichali Eleni A,Gribble Susan,Jones Philip,Krishnappa Netravathi,Mason Laura E,Miller Ray,Morley Katherine I,Parthiban Vijaya,Prigmore Elena,Rajan Diana,Sifrim Alejandro,Swaminathan G Jawahar,Tivey Adrian R,Middleton Anna,Parker Michael,Carter Nigel P,Barrett Jeffrey C,Hurles Matthew E,FitzPatrick David R,Firth Helen V

Publisher

Elsevier BV

Subject

General Medicine

Reference39 articles.

1. Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy;Lupski;N Engl J Med,2010

2. Exome sequencing as a tool for mendelian disease gene discovery;Bamshad;Nat Rev Genet,2011

3. Clinical whole-exome sequencing for the diagnosis of mendelian disorders;Yang;N Engl J Med,2013

4. Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease;Worthey;Genet Med,2011

5. Diagnostic exome sequencing in persons with severe intellectual disability;de Ligt;N Engl J Med,2012

Cited by 664 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Impact of prenatal genomics on clinical genetics practice;Best Practice & Research Clinical Obstetrics & Gynaecology;2024-12

2. Parental magnetic resonance imaging for the evaluation of fetuses with brain anomalies;Developmental Medicine & Child Neurology;2024-09-11

3. Should Scotland provide genome-wide sequencing for the diagnosis of rare developmental disorders? A cost-effectiveness analysis;The European Journal of Health Economics;2024-09-09

4. Genetic advances in neurodevelopmental disorders;Medical Review;2024-09-03

5. Biallelic variants inDAP3result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype;2024-08-21