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Frontiers in Integrative Neuroscience|June 3, 2022
Single Extracellular Vesicle Analysis Using Flow Cytometry for Neurological Disorder BiomarkersHouda Yasmine Ali Moussa, Nimshitha Manaph, Gowher Ali, et al.Human Mutation|April 14, 2025
Macrocephaly and Digital Anomalies Expand the Phenotypic Spectrum of PGAP2 Variants in Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 (HPMRS3)Seda Susgun, Afif Ben-Mahmoud, Franz Rüschendorf, et al.Scientific Reports|August 10, 2023
A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndromeAfif Ben-Mahmoud, Shotaro Kishikawa, Vijay Gupta, et al.Gastroenterology|February 16, 2012
Vacuolating cytotoxin and variants in Atg16L1 that disrupt autophagy promote Helicobacter pylori infection in humansDeepa Raju, Seamus Hussey, Michelle Ang, et al.Frontiers in Molecular Neuroscience|October 24, 2022
A rigorous in silico genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disordersAfif Ben-Mahmoud, Kyung Ran Jun, Vijay Gupta, et al.American Journal of Medical Genetics. Part A|December 21, 2024
Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG)Mohammad-Reza Ghasemi, Sahand Tehrani Fateh, Afif Ben-Mahmoud, et al.Pageof 15