Implementation of a dyadic nomenclature for monogenic diseases-Reference-Cited by-同舟云学术

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Implementation of a dyadic nomenclature for monogenic diseases

Published:2024-09 Issue:9 Volume:111 Page:1810-1818
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Thaxton Courtney^ORCID,Biesecker Leslie G.,DiStefano Marina,Haendel Melissa,Hamosh Ada,Owens Emma,Plon Sharon E.,Rehm Heidi L.,Berg Jonathan S.

Publisher

Elsevier BV

Reference13 articles.

1. A brief history of human disease genetics;Claussnitzer;Nature,2020

2. Lumping versus splitting: How to approach defining a disease to enable accurate genomic curation;Thaxton;Cell Genom.,2022

3. Utilizing ClinGen gene-disease validity and dosage sensitivity curations to inform variant classification;Thaxton;Hum. Mutat.,2022

4. ClinGen. ClinGen--the Clinical Genome Resource;Rehm;N. Engl. J. Med.,2015

5. Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future;Milko;Genet. Med.,2019

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