| Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin type S Malik, FE Percin, D Bornholdt, B Albrecht, A Percesepe, MC Koch, ... The American Journal of Human Genetics 95 (6), 649-659, 2014 | 31 | 2014 |
| Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy A Ahmed, M Wang, G Bergant, R Maroofian, R Zhao, M Alfadhel, ... Human Genetics 140, 579-592, 2021 | 13 | 2021 |
| Biallelic pathogenic variants in TBCD-related neurodevelopment disease with mild clinical features D Tian, K Rizwan, Y Liu, L Kang, Y Yang, X Mao, L Shu Neurological Sciences 40, 2325-2331, 2019 | 8 | 2019 |
| Excess of RALGAPB de novo variants in neurodevelopmental disorders HG Abid Ali Shah, Ge Zhang, KuokuoLi, Liu Chen bin, Ashafaque Ahmad Kanhar ... European Journal of Medical Genetics 63 (11), 20-27, 2020 | 3* | 2020 |
| A founder RDH5 splice site mutation leads to retinitis punctata albescens in two inbred Pakistani kindreds R Khan, RMK Shabbir, I Raza, U Abdullah, MA Naeem, A Ahmed, S Malik, ... Ophthalmic Genetics 41 (1), 7-12, 2020 | 1 | 2020 |
| A Splice-site Variant (C. 3289-1G> T) in OTOF Underlies Profound Hearing Loss in a Pakistani Kindred M Wang, R Khan, AA Shah, H Guo, S Malik, K Xia, Z Hu | | 2020 |
