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Clinical Genetics|September 26, 2022
A novel biallelic variant in the Popeye domain-containing protein 1 (POPDC1) underlies limb girdle muscle dystrophy type 25Arif Mahmood, Abdus Samad, Abid Ali Shah, et al.Journal of Biomolecular Structure & Dynamics|May 24, 2023
The deleterious variants of N-acetylgalactosamine-6-sulfatase (GalN6S) enzyme trigger Morquio a syndrome by disrupting protein foldingsJiuyi Li, Waqas Ahmad Khalid, Hina Imtiaz, et al.European Journal of Medical Genetics|August 28, 2020
Excess of RALGAPB de novo variants in neurodevelopmental disordersAbid Ali Shah, Ge Zhang, Kuokuo Li, et al.International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience|October 1, 2022
Clinical and genetic characterization of patients segregating variants in KPTN, MINPP1, NGLY1, AP4B1, and SON underlying neurodevelopmental disorders: Genetic and phenotypic expansionAsmat Ullah, Abid Ali Shah, Majed Alluqmani, et al.Human Genetics|October 13, 2020
Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathyAshfaque Ahmed, Meng Wang, Gaber Bergant, et al.Pageof 2