William Gahl
Affiliations: | National Institutes of Health, Bethesda, MD |
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Publications
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| Otero MG, Kim J, Kushwaha YK, et al. (2024) Cellular Modeling of CLN6 with IPSC-derived Neurons and Glia. Biorxiv : the Preprint Server For Biology |
| Macnamara EF, Loydpierson A, Latour YL, et al. (2023) Risks and benefits of anesthesia for combined pediatric procedures in the NIH undiagnosed diseases program. Molecular Genetics and Metabolism. 140: 107707 |
| Morimoto M, Nicoli ER, Kuptanon C, et al. (2023) Spectrum of mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature. Journal of Medical Genetics |
| Frost FG, Morimoto M, Sharma P, et al. (2023) Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis. American Journal of Human Genetics |
| Morimoto M, Bhambhani V, Gazzaz N, et al. (2023) Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment. Npj Genomic Medicine. 8: 4 |
| Peretz RH, Zein WM, Hufnagel RB, et al. (2022) A de novo hexokinase 1 (HK1) variant presenting as Boucher-Neuhäuser syndrome. American Journal of Medical Genetics. Part A |
| Soldatos A, Nutman TB, Johnson T, et al. (2022) Genomic analysis, immunomodulation and deep phenotyping of patients with nodding syndrome. Brain : a Journal of Neurology |
| Shimada S, Ng BG, White AL, et al. (2022) Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation. Journal of Medical Genetics |
| Montano C, Cassini T, Ziegler SG, et al. (2022) Diagnosis and Discovery: Insights from the NIH Undiagnosed Diseases Program. Journal of Inherited Metabolic Disease |
| Chatrathi HE, Collins JC, Wolfe LA, et al. (2022) Novel Variant Causing Familial Hyperkalemic Hypertension Impairs Regulation and Function of Ubiquitin Ligase Activity. Hypertension (Dallas, Tex. : 1979). 79: 60-75 |