| Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89 RLP Santos-Cortez, K Lee, Z Azeem, PJ Antonellis, LM Pollock, S Khan, ... The American Journal of Human Genetics 93 (1), 132-140, 2013 | 122 | 2013 |
| Phytochemical investigation and antimicrobial appraisal of Parrotiopsis jacquemontiana (Decne) Rehder S Ali, MR Khan, Irfanullah, M Sajid, Z Zahra BMC complementary and alternative medicine 18, 1-15, 2018 | 103 | 2018 |
| 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 | 61 | 2018 |
| 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 |
| Homozygous sequence variants in the WNT10B gene underlie split hand/foot malformation A Ullah, A Gul, M Umair, Irfanullah, F Ahmad, A Aziz, A Wali, W Ahmad Genetics and Molecular Biology 41 (1), 1-8, 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 |
| Homozygous Sequence Variants in the NPR2 Gene Underlying Acromesomelic Dysplasia Maroteaux Type (AMDM) in Consanguineous Families Irfanullah, M Umair, S Khan, W Ahmad Annals of Human Genetics 79 (4), 238-244, 2015 | 30 | 2015 |
| Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet–Biedl syndrome S Khan, I Ullah, M Touseef, S Basit, MN Khan, W Ahmad Gene 515 (1), 84-88, 2013 | 30 | 2013 |
| 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 | 29 | 2018 |
| Novel homozygous mutations in the WNT10B gene underlying autosomal recessive split hand/foot malformation in three consanguineous families A Aziz, S Khan, FK Zimri, N Muhammad, S Rashid, W Ahmad Gene 534 (2), 265-271, 2014 | 28 | 2014 |
| 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 |
| 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 |
| A homozygous missense mutation in SLC25A16 associated with autosomal recessive isolated fingernail dysplasia in a Pakistani family S Khan, M Ansar, AK Khan, K Shah, N Muhammad, S Shahzad, ... British Journal of Dermatology 178 (2), 556-558, 2018 | 13 | 2018 |
| Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1‐related … Irfanullah, S Khan, I Ullah, A Nasir, CA Meijer, M Laurense‐Bik, ... American Journal of Medical Genetics Part A 170 (12), 3289-3293, 2016 | 10 | 2016 |
| Disease causing homozygous variants in the human hairless gene S Mehmood, A Jan, SI Raza, F Ahmad, M Younus, Irfanullah, S Shahi, ... International Journal of Dermatology 55 (9), 977-981, 2016 | 10 | 2016 |
| Novel autosomal recessive LAMA3 and PLEC variants underlie junctional epidermolysis bullosa generalized intermediate and epidermolysis bullosa simplex with muscular dystrophy … F Ahmad, K Shah, M Umair, A Jan, S Khan, D Muhammad, S Basit, ... Clinical & Experimental Dermatology 43 (6), 2018 | 9 | 2018 |
| Identification and in silico analysis of GALNS mutations causing Morquio A syndrome in eight consanguineous families I Ullah, A Nasir, S Mehmood, S Ahmed, MI Ullah, A Ullah, A Aziz, SI Raza, ... Turkish Journal of Biology 41 (3), 458-468, 2017 | 6 | 2017 |
| A novel homozygous mutation disrupting the initiation codon in the SLURP1 gene underlies mal de Meleda in a consanguineous family K Shah, A Nasir, Irfanullah, S Shahzad, S Khan, W Ahmad Clinical and Experimental Dermatology 41 (6), 675-679, 2016 | 5 | 2016 |
| 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 |
| Genetic analysis of Xp22. 3 micro-deletions in seventeen families segregating isolated form of X-linked ichthyosis RH Ali, S Mahmood, SI Raza, A Aziz, SKH Naqvi, N Wasif, M Ansar, ... Journal of dermatological science 80 (3), 214-217, 2015 | 3 | 2015 |
Saad Ullah KhanAssociate Prof. Kohat Uni of Science & Technology Kohat,在 kust.edu.pk 的电子邮件经过验证
