| 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 |
| 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 | 41 | 2019 |
| 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 | 28 | 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 | 28 | 2018 |
| 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 |
| A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairment I Schrauwen, I Chakchouk, K Liaqat, A Jan, A Nasir, S Hussain, ... Human genetics 137, 471-478, 2018 | 19 | 2018 |
| Molecular and in silico analyses validates pathogenicity of homozygous mutations in the NPR2 gene underlying variable phenotypes of Acromesomelic dysplasia, type Maroteaux A Zeb, N Shinwari, K Shah, SZT Gilani, S Khan, KW Lee, SI Raza, ... The International Journal of Biochemistry & Cell Biology 102, 76-86, 2018 | 16 | 2018 |
| Variants in GLI3 Cause Greig Cephalopolysyndactyly Syndrome Abdullah, M Yousaf, Z Azeem, M Bilal, K Liaqat, S Hussain, F Ahmad, ... Genetic Testing and Molecular Biomarkers 23 (10), 744-750, 2019 | 14 | 2019 |
| A novel insertion and deletion mutation in the BHLHA9 underlies polydactyly and mesoaxial synostotic syndactyly with phalangeal reduction A Ullah, RH Ali, AI Majeed, K Liaqat, PW Shah, B Khan, M Bilal, M Umair, ... European Journal of Medical Genetics 62 (4), 278-281, 2019 | 12 | 2019 |
| 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 | 10 | 2022 |
| Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment K Liaqat, S Hussain, M Bilal, A Nasir, A Acharya, RH Ali, S Nawaz, ... Journal of human genetics 65 (2), 187-192, 2020 | 9 | 2020 |
| Further confirmation of the association of SLC12A2 with non-syndromic autosomal-dominant hearing impairment SM Adadey, I Schrauwen, ET Aboagye, T Bharadwaj, KK Esoh, S Basit, ... Journal of human genetics 66 (12), 1169-1175, 2021 | 8 | 2021 |
| Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13 A Acharya, SI Raza, MZ Anwar, T Bharadwaj, K Liaqat, MAS Khokhar, ... Journal of human genetics 66 (10), 1009-1018, 2021 | 6 | 2021 |
| Novel missense and 3′-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairment K Liaqat, I Chiu, K Lee, I Chakchouk, PB Andrade-Elizondo, ... Journal of human genetics 63 (11), 1099-1107, 2018 | 5 | 2018 |
| Phenotype expansion for atypical Gaucher disease due to homozygous missense PSAP variant in a large consanguineous Pakistani family K Liaqat, S Hussain, A Acharya, A Nasir, T Bharadwaj, M Ansar, S Basit, ... Genes 13 (4), 662, 2022 | 4 | 2022 |
| A Novel Missense Variant in the ALX4 Gene Underlies Mild to Severe Frontonasal Dysplasia in a Consanguineous Family S Hussain, Umm-e-Kalsoom, I Ullah, K Liaqat, S Nawaz, W Ahmad Genetic testing and molecular biomarkers 24 (4), 217-223, 2020 | 4 | 2020 |
| Variants in EFCAB7 underlie nonsyndromic postaxial polydactyly B Muhammad, K Hammal, JK Muhammad, BH Tobias, B Rebecca, ... european journal of human genetics, 2023 | 2 | 2023 |
| Syntaxin 4 is essential for hearing in human and zebrafish I Schrauwen, A Ghaffar, T Bharadwaj, K Shah, S Rehman, A Acharya, ... Human Molecular Genetics 32 (7), 1184-1192, 2023 | 2 | 2023 |
| A homozygous missense variant in K25 underlying overlapping phenotype with woolly hair and dental anomalies R Raza, G Chhabra, M Bilal, MA Ndiaye, K Liaqat, S Nawaz, JY Sgro, ... The Journal of investigative dermatology 143 (1), 173-176. e3, 2023 | 2 | 2023 |
| Further evidence of involvement of ITSN1 in autosomal dominant neurodevelopmental disorder. K Liaqat, K Treat, TE Wilson, E Conboy, F Vetrini Clinical Genetics, 2024 | 1 | 2024 |
