| 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 | 39 | 2019 |
| Biallelic variants in four genes underlying recessive osteogenesis imperfecta A Hayat, S Hussain, M Bilal, M Kausar, B Almuzzaini, S Abbas, A Tanveer, ... European journal of medical genetics 63 (8), 103954, 2020 | 34 | 2020 |
| Genetic Defects in DNAH2 Underlie Male Infertility With Multiple Morphological Abnormalities of the Sperm Flagella in Humans and Mice JY Hwang, S Nawaz, J Choi, H Wang, S Hussain, M Nawaz, ... Frontiers in Cell and Developmental Biology 9, 662903, 2021 | 31 | 2021 |
| 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 loss-of-function variant in DNA mismatch repair gene MLH3 underlies severe oligozoospermia S Nawaz, MI Ullah, BS Hamid, J Nargis, M Nawaz, S Hussain, W Ahmad Journal of Human Genetics 66 (7), 725-730, 2021 | 13 | 2021 |
| A homozygous nonsense variant in DYM underlies Dyggve–Melchior–Clausen syndrome associated with ectodermal features Abdullah, PW Shah, S Nawaz, S Hussain, A Ullah, S Basit, W Ahmad Molecular Biology Reports 47, 7083-7088, 2020 | 10 | 2020 |
| Sequence variants in GDF5 and TRPS1 underlie brachydactyly and tricho-rhino-phalangeal syndrome type III A Ullah, M Umair, S Hussain, A Jan, W Ahmad Pediatr Int 60 (3), 304-6, 2018 | 10 | 2018 |
| Novel variants in the LRP4 underlying Cenani-Lenz Syndactyly syndrome H Khan, AEQ Chong, M Bilal, S Nawaz, Abdullah, S Abbasi, A Hussain, ... Journal of Human Genetics 67 (5), 253-259, 2022 | 9 | 2022 |
| First evidence of involvement of TBC1D25 in causing human male infertility S Nawaz, S Hussain, S Basit, W Ahmad European Journal of Medical Genetics 64 (2), 104142, 2021 | 9 | 2021 |
| 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 |
| Phenotype Expansion for Atypical Gaucher Disease Due to Homozygous Missense PSAP Variant in a Large Consanguineous Pakistani Family SML Khurram Liaqat, Shabir Hussain, Anushree Acharya, Abdul Nasir, Thashi ... Genes 13 (4), 662, 2022 | 5 | 2022 |
| A novel missense variant in the BBS7 gene underlying Bardet-Biedl syndrome in a consanguineous Pakistani family A Hayat, AA Khan, A Rauf, SU Khan, S Hussain, A Ullah, W Ahmad, ... Clinical Dysmorphology 29 (1), 17-23, 2020 | 5 | 2020 |
| 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 |
| A novel homozygous variant in homologous recombination repair gene ZSWIM7 causes azoospermia in males and primary ovarian insufficiency in females S Hussain, S Nawaz, I Khan, N Khan, S Hussain, I Ullah, KA Fakhro, ... European Journal of Medical Genetics 65 (11), 104629, 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 |
| LRRC23 truncation impairs radial spoke 3 head assembly and sperm motility underlying male infertility JY Hwang, P Chai, S Nawaz, J Choi, F Lopez-Giraldez, S Hussain, ... Elife 12, RP90095, 2023 | 2 | 2023 |
| A novel variant in AFF3 underlying isolated syndactyly H Khan, G Koh, AEQ Chong, M Zahid, S Hussain, H Ali, W Ahmad, S Xue Clinical Genetics 103 (3), 341-345, 2023 | 2 | 2023 |
