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Article

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

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2024

Chopra Maya, 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

Abstract excerpt

PURPOSE: Clinically ascertained variants are under-utilized in neurodevelopmental disorder research. We established the Brain Gene Registry (BGR) to coregister clinically identified variants in putative brain genes with participant phenotypes. Here, we report 179 genetic variants in the first 179 BGR registrants and analyze the proportion that were novel to ClinVar at the time of entry and those that were absent...

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Identifiers

PMID: 38059438
DOI: 10.1016/j.gim.2023.101035
PMCID: PMC10939875

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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