Updated ACMG/AMP specifications for variant interpretation and gene curations from the ClinGen RASopathy expert panels

Updated RASopathy specifications improve the classification of variants associated with recessive disease and observed in exome/genome cases. Most of these specifications may also be used as a baseline for other rare Mendelian disorders.

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Publication Details

Journal
Genetics in Medicine Open
Published
2025-01-01
DOI
https://doi.org/10.1016/j.gimo.2025.103430
Citations
7
Primary Topic
Protein Tyrosine Phosphatases
Type
article
Field-Weighted Citation Impact
5.64

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article

Updated ACMG/AMP specifications for variant interpretation and gene curations from the ClinGen RASopathy expert panels

Heather Mason‐Suares, Hélène Cavé, Martin Zenker, Marina T. DiStefano et al.
7 citations
Genetics in Medicine Open
Protein Tyrosine Phosphatases
5.64
article

Updated ACMG/AMP specifications for variant interpretation and gene curations from the ClinGen RASopathy expert panels

Heather Mason‐Suares, Hélène Cavé, Martin Zenker, Marina T. DiStefano, Hannah McCurry, Shoji Ichikawa, Emma H. Wilcox, Marco Tartaglia, Madeline Y. Hughes, Karen W. Gripp, Lisa M. Vincent, Kezang Tshering, Bruce D. Gelb, Hannah Dziadzio, Jennifer A. Lee, Ryan Webb, Kate Garber, Bradley A. Williams
article en
7 citations

Abstract

Updated RASopathy specifications improve the classification of variants associated with recessive disease and observed in exome/genome cases. Most of these specifications may also be used as a baseline for other rare Mendelian disorders.

Genetics in Medicine OpenVol. 3
Broad Institute (US), Emory University (US), Université Paris Cité (FR), Brown University (US), Community Health Systems - Dupont Hospital (US), Assistance Publique – Hôpitaux de Paris (FR), Child Health and Development Institute (US), Bambino Gesù Children's Hospital (IT), Natera (United States) (US), Hôpital Robert-Debré (FR), University Hospital Magdeburg (DE), Greenwood Genetic Center (US), Ambry Genetics (United States) (US), Istituti di Ricovero e Cura a Carattere Scientifico (IT), Mass General Brigham (US), Icahn School of Medicine at Mount Sinai (US)
National Human Genome Research Institute
Zero hunger
Openalex Percentile: Top 4%
Protein Tyrosine Phosphatases
5.64
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