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Human Mutation|February 12, 2019
Kilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion of SLC12A2Ellen F Macnamara, Alanna E Koehler, Precilla D'Souza, et al.
American Journal of Medical Genetics. Part A|May 29, 2023
The contribution of mosaicism to genetic diseases and de novo pathogenic variantsRory J Tinker, Lisa Bastarache, Kimberly Ezell, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 4, 2023
De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic featuresJonathan C Andrews, Jung-Wan Mok, Oguz Kanca, et al.
American Journal of Medical Genetics. Part A|October 21, 2017
Defective ciliogenesis in INPP5E-related Joubert syndromeIsabel Hardee, Ariane Soldatos, Mariska Davids, et al.
American Journal of Medical Genetics. Part A|November 15, 2017
Cover Image, Volume 173A, Number 12, December 2017Isabel Hardee, Ariane Soldatos, Mariska Davids, et al.
Journal of Inherited Metabolic Disease|May 1, 2022
Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases ProgramCarolina Montano, Thomas Cassini, Shira G Ziegler, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|July 23, 2025
Neurodevelopmental Phenotyping and Genotyping in the Pediatric National Institute of Health Undiagnosed Disease ProgramDee Adedipe, Audrey Thurm, Lisa Joseph, et al.
Molecular Genetics and Metabolism|October 26, 2023
Risks and benefits of anesthesia for combined pediatric procedures in the NIH undiagnosed diseases programEllen F Macnamara, Amelia Loydpierson, Yvonne L Latour, et al.
Annals of Clinical and Translational Neurology|May 15, 2026
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN-Digenic MyopathyRotem Orbach, Sandra Donkervoort, Carola Hedberg-Oldfors, et al.
NPJ Genomic Medicine|February 10, 2023
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairmentMarie Morimoto, Vikas Bhambhani, Nour Gazzaz, et al.
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