| 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 | 380 | 2011 |
| 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 |
| Mutation analysis of the IL36RN gene in 14 Japanese patients with generalized pustular psoriasis M Farooq, H Nakai, A Fujimoto, H Fujikawa, A Matsuyama, N Kariya, ... Human mutation 34 (1), 176-183, 2013 | 163 | 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 |
| Homeobox genes d11–d13 and a13 control mouse autopod cortical bone and joint formation P Villavicencio-Lorini, P Kuss, J Friedrich, J Haupt, M Farooq, S Türkmen, ... The Journal of clinical investigation 120 (6), 1994-2004, 2010 | 100 | 2010 |
| Bioenergy potential of the residual microalgal biomass produced in city wastewater assessed through pyrolysis, kinetics and thermodynamics study to design algal biorefinery A Shahid, M Ishfaq, MS Ahmad, S Malik, M Farooq, Z Hui, AH Batawi, ... Bioresource technology 289, 121701, 2019 | 96 | 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 | 96 | 2014 |
| A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis A Fujimoto, M Farooq, H Fujikawa, A Inoue, M Ohyama, R Ehama, ... Journal of investigative dermatology 132 (10), 2342-2349, 2012 | 93 | 2012 |
| 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 | 71 | 2013 |
| Acrodermatitis continua of Hallopeau is a clinical phenotype of DITRA: evidence that it is a variant of pustular psoriasis O Abbas, S Itani, S Ghosn, AG Kibbi, G Fidawi, M Farooq, Y Shimomura, ... Dermatology 226 (1), 28-31, 2013 | 65 | 2013 |
| Characterization of the Human Hair Keratin–Associated Protein 2 (KRTAP2) Gene Family H Fujikawa, A Fujimoto, M Farooq, M Ito, Y Shimomura Journal of investigative dermatology 132 (7), 1806-1813, 2012 | 59 | 2012 |
| 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 | 59 | 2010 |
| Compound heterozygous ASPM mutations in Pakistani MCPH families F Muhammad, S Mahmood Baig, L Hansen, M Sajid Hussain, ... American journal of medical genetics Part A 149 (5), 926-930, 2009 | 53 | 2009 |
| RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis M Farooq, L Lindbæk, N Krogh, C Doganli, C Keller, M Mönnich, ... Nature Communications 11 (1), 1-16, 2020 | 47 | 2020 |
| A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers J Klar, Z Ali, M Farooq, K Khan, J Wikström, M Iqbal, S Zulfiqar, S Faryal, ... European Journal of Human Genetics, 2017 | 33 | 2017 |
| A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene M Farooq, M Ito, M Naito, Y Shimomura British Journal of Dermatology 165 (2), 425-431, 2011 | 33 | 2011 |
| A homozygous frameshift mutation in the HOXC13 gene underlies pure hair and nail ectodermal dysplasia in a Syrian family M Farooq, M Kurban, A Fujimoto, H Fujikawa, O Abbas, G Nemer, J Saliba, ... Human mutation 34 (4), 578-581, 2013 | 32 | 2013 |
| Prevention of β-thalassemia in a large Pakistani family through cascade testing SM Baig, MA Din, H Hassan, A Azhar, JM Baig, M Aslam, I Anjum, ... Public Health Genomics 11 (1), 68-70, 2008 | 31 | 2008 |
| Functional studies for the TRAF6 mutation associated with hypohidrotic ectodermal dysplasia H Fujikawa, M Farooq, A Fujimoto, M Ito, Y Shimomura British Journal of Dermatology 168 (3), 629-633, 2013 | 29 | 2013 |
| GJB6, of which mutations underlie Clouston syndrome, is a potential direct target gene of p63 A Fujimoto, M Kurban, M Nakamura, M Farooq, H Fujikawa, AG Kibbi, ... Journal of dermatological science 69 (2), 159-166, 2013 | 28 | 2013 |
