| Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability S Riazuddin, M Hussain, A Razzaq, Z Iqbal, M Shahzad, DL Polla, Y Song, ... Molecular psychiatry 22 (11), 1604-1614, 2017 | 133 | 2017 |
| Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86 AU Rehman, RLP Santos-Cortez, RJ Morell, MC Drummond, T Ito, K Lee, ... The American Journal of Human Genetics 94 (1), 144-152, 2014 | 96 | 2014 |
| Bi-allelic variants in METTL5 cause autosomal-recessive intellectual disability and microcephaly EM Richard, DL Polla, MZ Assir, M Contreras, M Shahzad, AA Khan, ... The American Journal of Human Genetics 105 (4), 869-878, 2019 | 70 | 2019 |
| Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss EM Richard, RLP Santos‐Cortez, R Faridi, AU Rehman, K Lee, ... Human mutation 40 (1), 53-72, 2019 | 60 | 2019 |
| Mutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome R Faridi, AU Rehman, RJ Morell, PL Friedman, L Demain, S Zahra, ... Clinical genetics 91 (2), 328-332, 2017 | 53 | 2017 |
| Missense mutations in CRYAB are liable for recessive congenital cataracts X Jiaox, SY Khan, B Irum, AO Khan, Q Wang, F Kabir, AA Khan, ... PloS one 10 (9), e0137973, 2015 | 42 | 2015 |
| Extended spectrum of MBD5 mutations in neurodevelopmental disorders C Bonnet, A Ali Khan, E Bresso, C Vigouroux, M Béri, S Lejczak, ... European Journal of Human Genetics 21 (12), 1457-1461, 2013 | 39 | 2013 |
| Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange‐Nielsen Syndrome and Romano‐Ward Syndrome R Faridi, R Tona, A Brofferio, M Hoa, R Olszewski, I Schrauwen, ... Human mutation 40 (2), 162-176, 2019 | 33 | 2019 |
| New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder R Faridi, A Rea, C Fenollar-Ferrer, RT O’Keefe, S Gu, Z Munir, AA Khan, ... Human Genetics 141 (3-4), 805-819, 2022 | 26 | 2022 |
| Mouse Models of Human Pathogenic Variants of TBC1D24 Associated with Non-Syndromic Deafness DFNB86 and DFNA65 and Syndromes Involving Deafness R Tona, IA Lopez, C Fenollar-Ferrer, R Faridi, C Anselmi, AA Khan, ... Genes 11 (10), 1122, 2020 | 15 | 2020 |
| A common ancestral mutation in CRYBB3 identified in multiple consanguineous families with congenital cataracts X Jiao, F Kabir, B Irum, AO Khan, Q Wang, D Li, AA Khan, T Husnain, ... PloS one 11 (6), e0157005, 2016 | 13 | 2016 |
| A missense allele of PEX5 is responsible for the defective import of PTS2 cargo proteins into peroxisomes M Ali, SY Khan, TA Rodrigues, T Francisco, X Jiao, H Qi, F Kabir, B Irum, ... Human genetics 140, 649-666, 2021 | 6 | 2021 |
| Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma B Rauf, SY Khan, X Jiao, B Irum, R Ashfaq, M Zehra, AA Khan, MA Naeem, ... Scientific reports 12 (1), 17218, 2022 | 5 | 2022 |
| RUNX1T1, a chromatin repression protein, is a candidate gene for autosomal dominant intellectual disability MT Huynh, M Béri‐Dexheimer, C Bonnet, M Bronner, AA Khan, L Allou, ... American Journal of Medical Genetics Part A 158 (7), 1782-1784, 2012 | 5 | 2012 |
| Homozygous novel truncating variant of CLPP associated with severe Perrault syndrome. R Faridi, P Stratton, N Salmeri, RJ Morell, AA Khan, MA Usmani, ... Clinical Genetics, 2024 | 1 | 2024 |
| Whole genome sequencing data of multiple individuals of Pakistani descent SY Khan, M Ali, MCW Lee, Z Ma, P Biswas, AA Khan, MA Naeem, ... Scientific data 7 (1), 350, 2020 | 1 | 2020 |
| Evaluation of a recurrent mutation in HGF gene responsible for non-syndromic hereditary deafness in Kashmiri population K Zaigham, H Tariq, TA Qaiser, SB Maqsood, AA Khan Advancements in Life Sciences 7 (4), 281-286, 2020 | 1 | 2020 |
| Les analyses pangénomiques dans l'exploration génétique de la déficience intellectuelle: de la recherche de gènes candidats du syndrome d'Aicardi, à la caractéristation du … AA Khan Université de Lorraine, 2012 | | 2012 |
