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Human Mutation|July 15, 2021
Variants of human CLDN9 cause mild to profound hearing lossMemoona Ramzan, Christophe Philippe, Inna A Belyantseva, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|May 9, 2025
FLT201, a novel liver-directed AAV gene therapy candidate for Gaucher disease type 1Fabrizio Comper, Carlos J Miranda, Benjamin Liou, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|August 3, 2017
Deleterious Germline Mutations in Patients With Apparently Sporadic Pancreatic AdenocarcinomaKoji Shindo, Jun Yu, Masaya Suenaga, et al.
Journal of the American College of Cardiology|August 4, 2018
Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and DissectionMarjolijn Renard, Catherine Francis, Rajarshi Ghosh, et al.
Journal of Clinical Immunology|July 9, 2020
Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual InheritanceOskar Schnappauf, Qing Zhou, Natalia Sampaio Moura, et al.
Scientific Reports|May 5, 2026
Genetic studies identify known and novel variants for recessively inherited moderate to severe hearing loss in consanguineous families from PakistanMemoona Ramzan, Hafiza Idrees, Hina Khan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 19, 2019
Insights into genetics, human biology and disease gleaned from family based genomic studiesJennifer E Posey, Anne H O'Donnell-Luria, Jessica X Chong, et al.
American Journal of Human Genetics|July 14, 2015
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and OpportunitiesJessica X Chong, Kati J Buckingham, Shalini N Jhangiani, et al.
American Journal of Human Genetics|March 13, 2025
Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformationsCharlotte Guillouet, Valeria Agostini, Geneviève Baujat, et al.
American Journal of Medical Genetics. Part A|October 24, 2020
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndromeDavid A Dyment, Anne O'Donnell-Luria, Pankaj B Agrawal, et al.
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