Whole-exome sequencing identifies causative mutations in families with congenital anomalies of the kidney and urinary tract AT van der Ven, DM Connaughton, H Ityel, N Mann, M Nakayama, J Chen, ... Journal of the American Society of Nephrology 29 (9), 2348-2361, 2018 | 180 | 2018 |
In silico analysis of SIGMAR1 variant (rs4879809) segregating in a consanguineous Pakistani family showing amyotrophic lateral sclerosis without frontotemporal … MI Ullah, A Ahmad, SI Raza, A Amar, A Ali, A Bhatti, P John, A Mohyuddin, ... Neurogenetics 16, 299-306, 2015 | 44 | 2015 |
Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis A Amar, AJ Majmundar, I Ullah, A Afzal, DA Braun, S Shril, A Daga, ... Human genetics 138, 211-219, 2019 | 39 | 2019 |
Association of FcγRIIa polymorphism with clinical outcome of dengue infection: first insight from Pakistan SN Mohsin, S Mahmood, A Amar, F Ghafoor, SM Raza, M Saleem The American journal of tropical medicine and hygiene 93 (4), 691, 2015 | 37 | 2015 |
Polymorphisms in dopaminergic system genes; association with criminal behavior and self-reported aggression in violent prison inmates from Pakistan MI Qadeer, A Amar, JJ Mann, S Hasnain PloS one 12 (6), e0173571, 2017 | 32 | 2017 |
Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice AJ Majmundar, F Buerger, TA Forbes, V Klämbt, R Schneider, K Deutsch, ... Science advances 7 (1), eabe1386, 2021 | 28 | 2021 |
Barcoding of fresh water fishes from Pakistan A Karim, A Iqbal, R Akhtar, M Rizwan, A Amar, U Qamar, S Jahan Mitochondrial DNA Part A 27 (4), 2685-2688, 2016 | 27 | 2016 |
TBC1D8B mutations implicate RAB11-dependent vesicular trafficking in the pathogenesis of nephrotic syndrome LL Kampf, R Schneider, L Gerstner, R Thünauer, M Chen, M Helmstädter, ... Journal of the American Society of Nephrology 30 (12), 2338-2353, 2019 | 25 | 2019 |
Association of vitamin D receptor gene polymorphisms and risk of urolithiasis: results of a genetic epidemiology study and comprehensive meta-analysis A Amar, A Afzal, SA Hussain, A Hameed, AR Khan, M Shakoor, A Abid, ... Urolithiasis 48 (5), 385-401, 2020 | 15 | 2020 |
Metachromatic leukodystrophy (MLD): a Pakistani family with novel ARSA gene mutation MA Shahzad, S Khaliq, A Amar, S Mahmood Journal of Molecular Neuroscience 63 (1), 84-90, 2017 | 13 | 2017 |
Association of serotonin system-related genes with homicidal behavior and criminal aggression in a prison population of Pakistani Origin MI Qadeer, A Amar, YY Huang, E Min, H Galfalvy, S Hasnain, JJ Mann Scientific reports 11 (1), 1670, 2021 | 11 | 2021 |
Interleukin 6 receptor (IL6-R) gene polymorphisms underlie susceptibility to rheumatoid arthritis S Ahmed, S Hussain, A Ammar, S Jahan, S Khaliq, H Kaul Clin Lab 63 (9), 1365-1369, 2017 | 11 | 2017 |
SLC11A1 genetic variation and low expression may cause immune response impairment in TB patients F Shahzad, N Bashir, A Ali, A Nadeem, A Ammar, M Kashif, K Javaid, ... Genes & Immunity 23 (2), 85-92, 2022 | 10 | 2022 |
Mutational analysis of CYP1B1 gene in Pakistani pediatric patients affected with Primary Congenital Glaucoma MU Khan, R Rehman, H Kaul, S Mahmood, A Ammar Advancements in Life Sciences 7 (1), 32-37, 2019 | 6 | 2019 |
Two novel mutations in the NR5A1 gene as a cause of disorders of sex development in a Pakistani cohort of 46,XY patients S Hussain, A Amar, MN Najeeb, S Khaliq Andrologia 48 (5), 509-517, 2016 | 6 | 2016 |
Osteopontin promoter polymorphisms and risk of urolithiasis: a candidate gene association and meta-analysis study A Amar, A Afzal, A Hameed, M Ahmad, AR Khan, H Najma, A Abid, ... BMC Medical Genetics 21, 1-11, 2020 | 5 | 2020 |
Genetic polymorphism of eNOS (G894T) gene in insulin resistance in type 2 diabetes patients of Pakistani population AA Albegali, M Shahzad, S Mahmood, MI Ullah, A Amar, O Sajjad International Journal of Diabetes in Developing Countries 40, 203-208, 2020 | 5 | 2020 |
PNPLA3 and TM6SF2 genetic variants and hepatic fibrosis and cirrhosis in Pakistani chronic hepatitis C patients: a genetic association study B Rauff, B Alzahrani, SA Chudhary, B Nasir, S Mahmood, MA Bhinder, ... BMC gastroenterology 22 (1), 401, 2022 | 4 | 2022 |
Interferon-λ rs12979860 genotype association with liver fibrosis in chronic hepatitis C (CHC) patients in the Pakistani population B Rauff, A Amar, SA Chudhary, S Mahmood, GUN Tayyab, R Hanif Archives of virology 166, 1047-1056, 2021 | 4 | 2021 |
Efficacy of topical adapalene in treatment of plantar warts A Amar, S Nida, S Malik Pakistan Armed Forces Medical Journal 70 (1), 240-44, 2020 | 3 | 2020 |