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Human Genomics|December 19, 2012
Gene family matters: expanding the HGNC resourceLouise C Daugherty, Ruth L Seal, Mathew W Wright, et al.Nucleic Acids Research|November 20, 2012
Genenames.org: the HGNC resources in 2013Kristian A Gray, Louise C Daugherty, Susan M Gordon, et al.The Lancet. Neurology|February 19, 2022
Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation studyKristina Ibañez, James Polke, R Tanner Hagelstrom, et al.American Journal of Human Genetics|August 4, 2023
Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disordersAlba Sanchis-Juan, Karyn Megy, Jonathan Stephens, et al.Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|October 31, 2024
Large-Scale Pharmacogenomics Analysis of Patients With Cancer Within the 100,000 Genomes Project Combining Whole-Genome Sequencing and Medical Records to Inform Clinical PracticeIvone U S Leong, Claudia P Cabrera, Valentina Cipriani, et al.American Journal of Human Genetics|July 30, 2021
Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolutionZornitza Stark, Rebecca E Foulger, Eleanor Williams, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 4, 2022
The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resourcesMarina T DiStefano, Scott Goehringer, Lawrence Babb, et al.American Journal of Respiratory and Critical Care Medicine|October 30, 2019
Characterization of <i>GDF2</i> Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial HypertensionJoshua Hodgson, Emilia M Swietlik, Richard M Salmon, et al.Nature Communications|April 14, 2018
Identification of rare sequence variation underlying heritable pulmonary arterial hypertensionStefan Gräf, Matthias Haimel, Marta Bleda, et al.Cell|November 19, 2016
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex DiseaseWilliam J Astle, Heather Elding, Tao Jiang, et al.Pageof 2