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American Journal of Medical Genetics. Part A|March 20, 2025
Proximal Deletions of 14q32.2 Result in Severe Neurodevelopmental Outcomes, Congenital Anomalies, and Dysmorphic FeaturesJennifer Black, Robert Roger Lebel, Ria Garg, et al.
Ophthalmic Genetics|August 18, 2018
A sibling study of isolated optic neuropathy associated with novel variants in the ACO2 geneJulian C Kelman, Benjamin A Kamien, Natalia C Murray, et al.
American Journal of Medical Genetics. Part A|September 17, 2024
Seven Novel Variants of Weiss-Kruszka Syndrome and Phenotype ExpansionAnna Hau, Anne Baxter, Kate Chandler, et al.
European Journal of Human Genetics : EJHG|November 30, 2017
NMNAT1 variants cause cone and cone-rod dystrophyBenjamin M Nash, Richard Symes, Himanshu Goel, et al.
Epilepsia Open|June 12, 2020
Epilepsy phenotype in individuals with chromosomal duplication encompassing FGF12Marjolein H Willemsen, Himanshu Goel, Judith S Verhoeven, et al.
International Journal of Molecular Sciences|April 28, 2023
Assessing Kidney Injury Induced by Mercuric Chloride in Guinea Pigs with In Vivo and In Vitro ExperimentsHimanshu Goel, Richard L Printz, Chiyo Shiota, et al.
European Journal of Medical Genetics|October 18, 2015
Narrowing the critical region for overgrowth within 13q14.2-q14.3 microdeletionsBenjamin Kamien, M Cristina Digilio, Antonio Novelli, et al.
Clinical Genetics|January 23, 2023
Further delineation of dosage-sensitive K/L mediated Xq28 duplication syndrome includes incomplete penetranceMelanie Leffler, Louise Christie, Anna Hackett, et al.
Neurology|February 16, 2021
Speech, Language, and Oromotor Skills in Patients With PolymicrogyriaRuth O Braden, Jessica O Boyce, Chloe A Stutterd, et al.
Developmental Medicine and Child Neurology|February 22, 2025
Pathogenic variants in chromatin-related genes: Linking immune dysregulation to neuroregression and acute neuropsychiatric disordersRussell C Dale, Shekeeb Mohammad, Velda X Han, et al.
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