Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders-Reference-Cited by-同舟云学术

Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders

Published:2023-08 Issue:8 Volume:110 Page:1343-1355
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Sanchis-Juan Alba^ORCID,Megy Karyn^ORCID,Stephens Jonathan^ORCID,Armirola Ricaurte Camila^ORCID,Dewhurst Eleanor,Low Kayyi,French Courtney E.,Grozeva Detelina^ORCID,Stirrups Kathleen,Erwood Marie,McTague Amy^ORCID,Penkett Christopher J.,Shamardina Olga^ORCID,Tuna Salih^ORCID,Daugherty Louise C.^ORCID,Gleadall Nicholas,Duarte Sofia T.,Hedrera-Fernández Antonio,Vogt Julie,Ambegaonkar Gautam,Chitre Manali,Josifova Dragana^ORCID,Kurian Manju A.,Parker Alasdair^ORCID,Rankin Julia,Reid Evan^ORCID,Wakeling Emma^ORCID,Wassmer Evangeline,Woods C. Geoffrey,Raymond F. Lucy^ORCID,Carss Keren J.^ORCID

Funder

NIHR Cambridge Biomedical Research Centre

AstraZeneca

NIHR Great Ormond Street Hospital Biomedical Research Centre

NIHR BioResource

National Institute for Health and Care Research

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference48 articles.

1. A diagnosis for all rare genetic diseases: the horizon and the next frontiers;Boycott;Cell,2019

2. Prevalence and architecture of de novo mutations in developmental disorders;Nature,2017

3. 100,000 Genomes pilot on rare-disease diagnosis in health care - preliminary report;Smedley;N. Engl. J. Med.,2021

4. Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases;Clark;NPJ Genom. Med.,2018

5. De novo structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 families;Belyeu;Am. J. Hum. Genet.,2021

Cited by 1 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. Functional genomics and small molecules in mitochondrial neurodevelopmental disorders;Neurotherapeutics;2024-01