Clinical variants paired with phenotype: A rich resource for brain gene curation-Reference-Cited by-同舟云学术

Clinical variants paired with phenotype: A rich resource for brain gene curation

Published:2024-03 Issue:3 Volume:26 Page:101035
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Chopra Maya^ORCID,Savatt Juliann M.,Bingaman Taylor I.,Good Molly E.,Morgan Alexis,Cooney Caitlin,Rossel Allison M.,VanHoute Bryanna,Cordova Ineke,Mahida Sonal,Lanzotti Virginia,Baldridge Dustin,Gurnett Christina A.,Piven Joseph,Hazlett Heather,Pomeroy Scott L.,Sahin Mustafa,Payne Philip R.O.,Riggs Erin Rooney,Constantino John N.,Gropman A.,Smith-Hicks C.L.,Neul J.,Agosto J.A. Martinez-,German K.,Izumi K.,Abbeduto L.,Dawalt L.,Wangler M.,Wasserstein M.,Storch Eric A.,Cohen J.S.,Samaco R.,Molholm S.,Shankar S.,Srivastava S.,Walkley S.,Sveden A.,Dies K.,Gupta Aditi,Oh Inez,Hauck Rachel

Funder

NIH

Publisher

Elsevier BV

Subject

Genetics (clinical)

Reference24 articles.

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2. ClinVar: improving access to variant interpretations and supporting evidence;Landrum;Nucleic Acids Res,2018

3. ClinVar: public archive of interpretations of clinically relevant variants;Landrum;Nucleic Acids Res,2016

4. ClinVar at five years: delivering on the promise;Landrum;Hum Mutat,2018

5. Practical considerations in the clinical application of whole-exome sequencing;Shashi;Clin Genet,2016

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1. The Brain Gene Registry: a data snapshot;Journal of Neurodevelopmental Disorders;2024-04-17

2. Expansion of the Genotypic and Phenotypic Spectrum of ASH1L-Related Syndromic Neurodevelopmental Disorder;Genes;2024-03-28

3. Phenotypic compatibility and specificity in genomic variant classification;European Journal of Human Genetics;2024-02-13