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JCO Oncology Practice|February 28, 2025
Expanding Germline Hereditary Cancer Gene Panel Testing by Nongenetics Providers: 3-Year Experience in Large Integrated Health Care Delivery SystemTrevor L Hoffman, Farah M Brasfield, Devansu Tewari, et al.
American Journal of Human Genetics|January 8, 2021
De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathyDjurdja Djordjevic, Maxime Pinard, Marie-Soleil Gauthier, et al.
American Journal of Medical Genetics. Part A|March 29, 2025
Expanding the SIAH1-Associated Phenotypic Spectrum: Insights From Loss-of-Function VariantsLiza Douiev, Paula Fernandez Alvarez, Marika Frank, et al.
HGG Advances|July 9, 2026
ALG14 Variants Contribute to a Congenital Disorder of Glycosylation Characterized by Congenital Myasthenia and EpilepsyJonathan Marquez, Flavien Rouxel, Fatima E It, et al.
American Journal of Medical Genetics. Part A|May 11, 2022
Heterozygous variants in PRPF8 are associated with neurodevelopmental disordersLauren O'Grady, Samantha A Schrier Vergano, Trevor L Hoffman, et al.
Brain : a Journal of Neurology|August 30, 2023
SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysisArthur Stefanski, Eduardo Pérez-Palma, Tobias Brünger, et al.
Molecular Psychiatry|April 30, 2020
Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndromeJoost Kummeling, Diante E Stremmelaar, Nicholas Raun, et al.
Genetics in Medicine Open|June 5, 2025
Autosomal dominant <i>HK1</i>-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorderBobby G Ng, Erik A Eklund, Jill A Rosenfeld, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 21, 2021
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotoniaAlison M Muir, Jennifer F Gardner, Richard H van Jaarsveld, et al.
Human Mutation|December 3, 2021
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorderSmitha Kumble, Amanda M Levy, Jaya Punetha, et al.
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