| Loss of Ca v 1.3 (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 | 257 | 2011 |
| 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 | 173 | 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 | 173 | 2012 |
| 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 | 152 | 2013 |
| 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, 2014 | 138 | 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 | 115 | 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 | 95 | 2013 |
| 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 | 91 | 2013 |
| 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 | 75 | 2009 |
| 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 | 67 | 2016 |
| 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 | 62 | 2011 |
| 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 | 57 | 2014 |
| 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 | 54 | 2014 |
| Prenatal diagnosis of β‐thalassemia in Southern Punjab, Pakistan SM Baig, A Azhar, H Hassan, JM Baig, M Aslam, MA Ud Din, JA Qureshi, ... Prenatal diagnosis 26 (10), 903-905, 2006 | 54 | 2006 |
| Genetic heterogeneity in Pakistani microcephaly families M Sajid Hussain, S Marriam Bakhtiar, M Farooq, I Anjum, E Janzen, ... Clinical genetics 83 (5), 446-451, 2013 | 50 | 2013 |
| Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis … M Farooq, JT Troelsen, M Boyd, H Eiberg, L Hansen, MS Hussain, ... European Journal of Human Genetics 18 (6), 733-736, 2010 | 49 | 2010 |
| Spectrum of beta-thalassemia mutations in various regions of Punjab and Islamabad, Pakistan: establishment of prenatal diagnosis SM Baig, A Azhar, H Hassan, JM Baig, A Kiyani, U Hameed, F Rabbi, ... haematologica 91 (3), ELT02-ELT02, 2006 | 45 | 2006 |
| 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 | 44 | 2017 |
| 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 | 44 | 2014 |
| Targeted and Genomewide NGS Data Disqualify Mutations in MYO1A, the “DFNA48 Gene”, as a Cause of Deafness T Eisenberger, N Di Donato, SM Baig, C Neuhaus, A Beyer, E Decker, ... Human mutation 35 (5), 565-570, 2014 | 40 | 2014 |
