| Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability RLP Santos-Cortez, V Khan, FS Khan, ZN Mughal, I Chakchouk, K Lee, ... Human genetics 137, 735-752, 2018 | 62 | 2018 |
| 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 | 61 | 2019 |
| Autosomal-recessive hearing impairment due to rare missense variants within S1PR2 RLP Santos-Cortez, R Faridi, AU Rehman, K Lee, M Ansar, X Wang, ... The American Journal of Human Genetics 98 (2), 331-338, 2016 | 52 | 2016 |
| Rare A2ML1 variants confer susceptibility to otitis media RLP Santos-Cortez, CM Chiong, MRT Reyes-Quintos, MLC Tantoco, ... Nature genetics 47 (8), 917-920, 2015 | 49 | 2015 |
| Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance K Liaqat, I Schrauwen, SI Raza, K Lee, S Hussain, I Chakchouk, A Nasir, ... Journal of human genetics 64 (2), 153-160, 2019 | 40 | 2019 |
| FAM92A underlies nonsyndromic postaxial polydactyly in humans and an abnormal limb and digit skeletal phenotype in mice I Schrauwen, APJ Giese, A Aziz, DT Lafont, I Chakchouk, ... Journal of Bone and Mineral Research 34 (2), 375-386, 2019 | 38 | 2019 |
| Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland I Järvelä, T Määttä, A Acharya, J Leppälä, SN Jhangiani, M Arvio, A Siren, ... Human Genetics 140, 1011-1029, 2021 | 31 | 2021 |
| Autosomal dominantly inherited GREB1L variants in individuals with profound sensorineural hearing impairment I Schrauwen, K Liaqat, I Schatteman, T Bharadwaj, A Nasir, A Acharya, ... Genes 11 (6), 687, 2020 | 30 | 2020 |
| Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment I Schrauwen, I Chakchouk, A Acharya, K Liaqat, Irfanullah, DA Nickerson, ... BMC medical genetics 19, 1-6, 2018 | 30 | 2018 |
| A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair M Ansar, SI Raza, K Lee, S Shahi, A Acharya, H Dai, JD Smith, ... Journal of medical genetics 52 (10), 676-680, 2015 | 30 | 2015 |
| Long‐read whole‐genome sequencing for the genetic diagnosis of dystrophinopathies Z Xie, C Sun, S Zhang, Y Liu, M Yu, Y Zheng, L Meng, A Acharya, ... Annals of Clinical and Translational Neurology 7 (10), 2041-2046, 2020 | 25 | 2020 |
| Confirmation of the role of DHX38 in the etiology of early-onset retinitis pigmentosa Z Latif, I Chakchouk, I Schrauwen, K Lee, RLP Santos-Cortez, I Abbe, ... Investigative ophthalmology & visual science 59 (11), 4552-4557, 2018 | 21 | 2018 |
| Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability M Ansar, A Jan, RLP Santos-Cortez, X Wang, M Suliman, A Acharya, ... European Journal of Human Genetics 24 (8), 1223-1227, 2016 | 20 | 2016 |
| Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly I Ullah, N Kakar, I Schrauwen, S Hussain, I Chakchouk, K Liaqat, ... Human genetics 138, 593-600, 2019 | 19 | 2019 |
| A2ML1 and otitis media: novel variants, differential expression, and relevant pathways ED Larson, JPM Magno, MJ Steritz, EGV Llanes, J Cardwell, M Pedro, ... Human mutation 40 (8), 1156-1171, 2019 | 14 | 2019 |
| Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma I Schrauwen, BI Melegh, I Chakchouk, A Acharya, A Nasir, A Poston, ... European Journal of Human Genetics 27 (6), 869-878, 2019 | 14 | 2019 |
| Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes A Wonkam, SM Adadey, I Schrauwen, ET Aboagye, E Wonkam-Tingang, ... Communications biology 5 (1), 369, 2022 | 12 | 2022 |
| Bi-Allelic Novel Variants in CLIC5 Identified in a Cameroonian Multiplex Family with Non-Syndromic Hearing Impairment E Wonkam-Tingang, I Schrauwen, KK Esoh, T Bharadwaj, ... Genes 11 (11), 1249, 2020 | 12 | 2020 |
| ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment T Bharadwaj, I Schrauwen, S Rehman, K Liaqat, A Acharya, APJ Giese, ... European Journal of Human Genetics 30 (1), 22-33, 2022 | 11 | 2022 |
| A novel variant in DMXL2 gene is associated with autosomal dominant non-syndromic hearing impairment (DFNA71) in a Cameroonian family E Wonkam-Tingang, I Schrauwen, KK Esoh, T Bharadwaj, ... Experimental Biology and Medicine 246 (13), 1524-1532, 2021 | 11 | 2021 |
