Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes-Reference-Cited by-同舟云学术

Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes

Published:2022-06 Issue:6 Volume:24 Page:1336-1348
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Cohen Ana S.A.^ORCID,Farrow Emily G.,Abdelmoity Ahmed T.,Alaimo Joseph T.,Amudhavalli Shivarajan M.,Anderson John T.,Bansal Lalit,Bartik Lauren,Baybayan Primo,Belden Bradley,Berrios Courtney D.,Biswell Rebecca L.,Buczkowicz Pawel,Buske Orion,Chakraborty Shreyasee,Cheung Warren A.,Coffman Keith A.,Cooper Ashley M.,Cross Laura A.,Curran Tom,Dang Thuy Tien T.,Elfrink Mary M.,Engleman Kendra L.,Fecske Erin D.,Fieser Cynthia,Fitzgerald Keely,Fleming Emily A.,Gadea Randi N.,Gannon Jennifer L.,Gelineau-Morel Rose N.,Gibson Margaret,Goldstein Jeffrey,Grundberg Elin,Halpin Kelsee,Harvey Brian S.,Heese Bryce A.,Hein Wendy,Herd Suzanne M.,Hughes Susan S.,Ilyas Mohammed,Jacobson Jill,Jenkins Janda L.,Jiang Shao,Johnston Jeffrey J.,Keeler Kathryn,Korlach Jonas,Kussmann Jennifer,Lambert Christine,Lawson Caitlin,Le Pichon Jean-Baptiste,Leeder James Steven,Little Vicki C.,Louiselle Daniel A.,Lypka Michael,McDonald Brittany D.,Miller Neil,Modrcin Ann,Nair Annapoorna,Neal Shelby H.,Oermann Christopher M.,Pacicca Donna M.,Pawar Kailash,Posey Nyshele L.,Price Nigel,Puckett Laura M.B.,Quezada Julio F.,Raje Nikita,Rowell William J.,Rush Eric T.,Sampath Venkatesh,Saunders Carol J.,Schwager Caitlin,Schwend Richard M.,Shaffer Elizabeth,Smail Craig,Soden Sarah,Strenk Meghan E.,Sullivan Bonnie R.,Sweeney Brooke R.,Tam-Williams Jade B.,Walter Adam M.,Welsh Holly,Wenger Aaron M.,Willig Laurel K.,Yan Yun,Younger Scott T.,Zhou Dihong,Zion Tricia N.,Thiffault Isabelle,Pastinen Tomi

Funder

Children's Mercy Hospital

Publisher

Elsevier BV

Subject

Genetics (clinical)

Reference38 articles.

1. Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing;Bruel;Eur J Hum Genet,2019

2. Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing;Costain;Eur J Hum Genet,2018

3. Reanalysis of clinical exome sequencing data;Liu;N Engl J Med,2019

4. Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review;Tan;Mol Genet Genomic Med,2020

5. GeneMatcher: a matching tool for connecting investigators with an interest in the same gene;Sobreira;Hum Mutat,2015

Cited by 50 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. Beyond the Human Genome Project: The Age of Complete Human Genome Sequences and Pangenome References;Annual Review of Genomics and Human Genetics;2024-08-27

2. Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection;2024-08-22

3. Local read haplotagging enables accurate long-read small variant calling;Nature Communications;2024-07-13

4. Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis;Genetics in Medicine;2024-06

5. Prevalence and Characterization of NOTCH2NLC GGC Repeat Expansions in Koreans;Neurology Genetics;2024-06