Kamal Khan

Kamal Khan

Northwestern University - Evanston / United States
Natural Sciences / Molecular Biology & Genetics
AD Scientific Index ID: 4962739
person_outline Kamal Khan's MOST POPULAR ARTICLES
1-) De novo disruption of the proteasome regulatory subunit PSMD12 causes a syndromic neurodevelopmental disorder S Küry, T Besnard, F Ebstein, TN Khan, T Gambin, J Douglas, CA Bacino, ... The American Journal of Human Genetics 100 (2), 352-363, 2017 822017
2-) Exome-wide association study identifies GREB1L mutations in congenital kidney malformations S Sanna-Cherchi, K Khan, R Westland, P Krithivasan, L Fievet, ... The American Journal of Human Genetics 101 (5), 789-802, 2017 782017
3-) SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorderV Del Dotto, F Ullah, I Di Meo, P Magini, M Gusic, A Maresca, L Caporali, ...The Journal of clinical investigation 130 (1), 108-125, 2020722020
4-) Mutations of KIF14 cause primary microcephaly by impairing cytokinesisA Moawia, R Shaheen, S Rasool, SS Waseem, N Ewida, B Budde, ...Annals of neurology 82 (4), 562-577, 2017832017
5-) A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative featuresG Kellaris, K Khan, SM Baig, IC Tsai, FM Zamora, P Ruggieri, ...Human genomics 12 (1), 1-9, 2018662018