| 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 | 115 | 2017 |
| 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 | 98 | 2017 |
| SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder V Del Dotto, F Ullah, I Di Meo, P Magini, M Gusic, A Maresca, L Caporali, ... The Journal of clinical investigation 130 (1), 108-125, 2020 | 77 | 2020 |
| Mutations of KIF14 cause primary microcephaly by impairing cytokinesis A Moawia, R Shaheen, S Rasool, SS Waseem, N Ewida, B Budde, ... Annals of neurology 82 (4), 562-577, 2017 | 76 | 2017 |
| A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features G Kellaris, K Khan, SM Baig, IC Tsai, FM Zamora, P Ruggieri, ... Human genomics 12 (1), 1-9, 2018 | 61 | 2018 |
| The human FSGS-causing ANLN R431C mutation induces dysregulated PI3K/AKT/mTOR/Rac1 signaling in podocytes G Hall, BM Lane, K Khan, I Pediaditakis, J Xiao, G Wu, L Wang, ... Journal of the American Society of Nephrology 29 (8), 2110-2122, 2018 | 49 | 2018 |
| Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy YR Lee, K Khan, K Armfield-Uhas, S Srikanth, NA Thompson, M Pardo, ... Nature Communications 11 (1), 1-17, 2020 | 45 | 2020 |
| Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies TN Khan, K Khan, A Sadeghpour, H Reynolds, Y Perilla, MT McDonald, ... The American Journal of Human Genetics 104 (1), 94-111, 2019 | 30 | 2019 |
| A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers J Klar, Z Ali, M Farooq, K Khan, J Wikström, M Iqbal, S Zulfiqar, S Faryal, ... European Journal of Human Genetics 25 (7), 848-853, 2017 | 30 | 2017 |
| Novel SACS mutations associated with intellectual disability, epilepsy and widespread supratentorial abnormalities Z Ali, J Klar, M Jameel, K Khan, A Fatima, R Raininko, S Baig, N Dahl Journal of the neurological sciences 371, 105-111, 2016 | 28 | 2016 |
| Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia K Khan, M Zech, AT Morgan, DJ Amor, M Skorvanek, TN Khan, ... Genetics in Medicine 21 (11), 2532-2542, 2019 | 23 | 2019 |
| A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss F Ullah, W Rauf, K Khan, S Khan, KM Bell, VC de Oliveira, M Tariq, ... Human Genetics, 1-19, 2021 | 20 | 2021 |
| Multidisciplinary approaches for elucidating genetics and molecular pathogenesis of urinary tract malformations K Khan, DF Ahram, YP Liu, R Westland, RV Sampogna, N Katsanis, ... Kidney International, 2021 | 18 | 2021 |
| De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis PL Weng, AJ Majmundar, K Khan, TY Lim, S Shril, G Jin, J Musgrove, ... The American Journal of Human Genetics, 2021 | 18 | 2021 |
| TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci EE Davis, R Balasubramanian, ZA Kupchinsky, DL Keefe Jr, L Plummer, ... Human molecular genetics 29 (14), 2435-2450, 2020 | 12 | 2020 |
| A GDF5 frameshift mutation segregating with Grebe type chondrodysplasia and Brachydactyly Type C+ in a 6 generations family: Clinical report and mini review. S Faryal, M Farooq, U Abdullah, Z Ali, SM Saadi, F Ullah, K Khan, ... European Journal of Medical Genetics, 104226, 2021 | 7 | 2021 |
| Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities M Scala, K Khan, C Beneteau, RG Fox, S von Hardenberg, A Khan, ... Genetics in Medicine 26 (4), 101057, 2024 | 1 | 2024 |
| A recurrent rare intronic variant in CAPN3 alters mRNA splicing and causes autosomal recessive limb‐girdle muscular dystrophy‐1 in three Pakistani pedigrees K Khan, S Mehmood, C Liu, M Siddiqui, A Ahmad, BY Faiz, BA Chioza, ... American Journal of Medical Genetics Part A, 0 | | |
