Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability S Riazuddin, M Hussain, A Razzaq, Z Iqbal, M Shahzad, DL Polla, Y Song, ... Molecular psychiatry 22 (11), 1604-1614, 2017 | 137 | 2017 |
Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86 AU Rehman, RLP Santos-Cortez, RJ Morell, MC Drummond, T Ito, K Lee, ... The American Journal of Human Genetics 94 (1), 144-152, 2014 | 96 | 2014 |
Mutation of ATF6 causes autosomal recessive achromatopsia M Ansar, RLP Santos-Cortez, MAN Saqib, F Zulfiqar, K Lee, NM Ashraf, ... Human Genetics 134, 941-950, 2015 | 83 | 2015 |
Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish RLP Santos-Cortez, K Lee, AP Giese, M Ansar, M Amin-Ud-Din, K Rehn, ... Human molecular genetics 23 (12), 3289-3298, 2014 | 64 | 2014 |
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 |
Bio-physicochemical analysis of ethylene oxide-linked diester-functionalized green cationic gemini surfactants M Akram, S Anwar, F Ansari, IA Bhat RSC advances 6 (26), 21697-21705, 2016 | 54 | 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 |
FUT2 variants confer susceptibility to familial otitis media RLP Santos-Cortez, CM Chiong, DN Frank, AF Ryan, APJ Giese, ... The American Journal of Human Genetics 103 (5), 679-690, 2018 | 46 | 2018 |
De novo and bi-allelic pathogenic variants in NARS1 cause neurodevelopmental delay due to toxic gain-of-function and partial loss-of-function effects A Manole, S Efthymiou, E O’Connor, MI Mendes, M Jennings, ... The American Journal of Human Genetics 107 (2), 311-324, 2020 | 45 | 2020 |
Prognostic model to predict postoperative acute kidney injury in patients undergoing major gastrointestinal surgery based on a national prospective observational cohort study STARSurg Collaborative, ... BJS open 2 (6), 400-410, 2018 | 45 | 2018 |
Challenges and solutions for gene identification in the presence of familial locus heterogeneity AU Rehman, RLP Santos-Cortez, MC Drummond, M Shahzad, K Lee, ... European Journal of Human Genetics 23 (9), 1207-1215, 2015 | 43 | 2015 |
Association between peri‐operative angiotensin‐converting enzyme inhibitors and angiotensin‐2 receptor blockers and acute kidney injury in major elective non‐cardiac surgery: a … STARSurg Collaborative, TM Drake, LK Cheung, F Gaba, J Glasbey, ... Anaesthesia 73 (10), 1214-1222, 2018 | 32 | 2018 |
Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population M Shahzad, S Yousaf, YM Waryah, H Gul, T Kausar, N Tariq, U Mahmood, ... Scientific reports 7 (1), 44185, 2017 | 29 | 2017 |
Perioperative intravenous contrast administration and the incidence of acute kidney injury after major gastrointestinal surgery: prospective, multicentre cohort study Journal of British Surgery 107 (8), 1023-1032, 2020 | 25 | 2020 |
Unraveling the interaction of hemoglobin with a biocompatible and cleavable oxy-diester-functionalized gemini surfactant M Akram, S Anwar, IA Bhat International journal of biological macromolecules 96, 474-484, 2017 | 23 | 2017 |
Biophysical perspective of the binding of ester-functionalized gemini surfactants with catalase M Akram, IA Bhat, S Anwar, A Ahmad International journal of biological macromolecules 88, 614-623, 2016 | 21 | 2016 |
Molecular interaction of an ester-functionalized biodegradable gemini surfactant with lysozyme: insights from spectroscopy, calorimetry and molecular docking M Akram, IA Bhat, S Anwar Journal of Molecular Liquids 212, 641-649, 2015 | 20 | 2015 |
Stock Market Efficiency: Behavioral Or Traditional Paradigm? Evidence From Karachi Stock Exchange (KSE) And Investor Community Of Pakistan SJH Shahzad, P Ali, F Saleem, S Ali, S Akram Journal Of Contemporary Research in Business 4 (10), 2013 | 20 | 2013 |
An empirical analysis of customer satisfaction on adoption of internet banking in Pakistan S Akram, N Asghar Interdisciplinary Journal of Contemporary Research in Business 3 (9), 1124-1132, 2012 | 19 | 2012 |
Biophysical analysis of novel oxy-diester hybrid cationic gemini surfactants (Cm-E2O-Cm) with xanthine oxidase (XO) M Akram, IA Bhat, S Anwar Process Biochemistry 51 (9), 1212-1221, 2016 | 18 | 2016 |