Loss of Cav1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness SM Baig, A Koschak, A Lieb, M Gebhart, C Dafinger, G Nürnberg, A Ali, ... Nature neuroscience 14 (1), 77-84, 2011 | 379 | 2011 |
Role of cholesterol and sphingolipids in brain development and neurological diseases G Hussain, J Wang, A Rasul, H Anwar, A Imran, M Qasim, S Zafar, ... Lipids in health and disease 18, 1-12, 2019 | 345 | 2019 |
Imbalance between neutrophil elastase and its inhibitor α1-antitrypsin in obesity alters insulin sensitivity, inflammation, and energy expenditure V Mansuy-Aubert, QL Zhou, X Xie, Z Gong, JY Huang, AR Khan, G Aubert, ... Cell metabolism 17 (4), 534-548, 2013 | 272 | 2013 |
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies T Eisenberger, C Neuhaus, AO Khan, C Decker, MN Preising, ... PloS one 8 (11), e78496, 2013 | 251 | 2013 |
A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function MS Hussain, SM Baig, S Neumann, G Nürnberg, M Farooq, I Ahmad, ... The American Journal of Human Genetics 90 (5), 871-878, 2012 | 223 | 2012 |
Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy CA Martin, I Ahmad, A Klingseisen, MS Hussain, LS Bicknell, A Leitch, ... Nature genetics 46 (12), 1283-1292, 2014 | 202 | 2014 |
Molecular and population genetic analyses of β‐Thalassemia in Turkey GO Tadmouri, Ş Tüzmen, H Özçelik, A Özer, SM Baig, EB Senga, ... American journal of hematology 57 (3), 215-220, 1998 | 153 | 1998 |
CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly MS Hussain, SM Baig, S Neumann, VS Peche, S Szczepanski, ... Human molecular genetics 22 (25), 5199-5214, 2013 | 151 | 2013 |
Gene panel testing in epileptic encephalopathies and familial epilepsies RS Møller, LHG Larsen, KM Johannesen, I Talvik, T Talvik, U Vaher, ... Molecular syndromology 7 (4), 210-219, 2016 | 138 | 2016 |
Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome DA Braun, S Lovric, D Schapiro, R Schneider, J Marquez, M Asif, ... The Journal of clinical investigation 128 (10), 4313-4328, 2018 | 131 | 2018 |
Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability L Hansen, H Tawamie, Y Murakami, Y Mang, S ur Rehman, R Buchert, ... The American Journal of Human Genetics 92 (4), 575-583, 2013 | 116 | 2013 |
Identifying the reasons for delayed presentation of Pakistani breast cancer patients at a tertiary care hospital F Gulzar, MS Akhtar, R Sadiq, S Bashir, S Jamil, SM Baig Cancer management and research, 1087-1096, 2019 | 101 | 2019 |
Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas‐type polysyndactyly and Laurin‐Sandrow syndrome S Lohan, M Spielmann, SC Doelken, R Flöttmann, F Muhammad, ... Clinical Genetics 86 (4), 318-325, 2014 | 95 | 2014 |
Artificial three-body equilibria for hybrid low-thrust propulsion S Baig, CR McInnes Journal of Guidance, Control, and Dynamics 31 (6), 1644-1655, 2008 | 93 | 2008 |
Lipids as biomarkers of brain disorders G Hussain, H Anwar, A Rasul, A Imran, M Qasim, S Zafar, M Imran, ... Critical reviews in food science and nutrition 60 (3), 351-374, 2020 | 89 | 2020 |
Abolished InsP3R2 function inhibits sweat secretion in both humans and mice J Klar, C Hisatsune, SM Baig, M Tariq, ACV Johansson, M Rasool, ... The Journal of clinical investigation 124 (11), 4773-4780, 2014 | 87 | 2014 |
Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia AS Fröjmark, J Schuster, M Sobol, M Entesarian, MBC Kilander, ... The American Journal of Human Genetics 88 (6), 852-860, 2011 | 85 | 2011 |
WNT10A missense mutation associated with a complete odonto-onycho-dermal dysplasia syndrome S Nawaz, J Klar, M Wajid, M Aslam, M Tariq, J Schuster, SM Baig, N Dahl European journal of human genetics 17 (12), 1600-1605, 2009 | 85 | 2009 |
Mutations of KIF14 cause primary microcephaly by impairing cytokinesis A Moawia, R Shaheen, S Rasool, SS Waseem, N Ewida, B Budde, ... Annals of neurology 82 (4), 562-577, 2017 | 82 | 2017 |
A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family MA Khan, VM Rupp, M Orpinell, MS Hussain, J Altmüller, MO Steinmetz, ... Human molecular genetics 23 (22), 5940-5949, 2014 | 81 | 2014 |