| 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 | 360 | 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 | 217 | 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 | 190 | 2014 |
| 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 | 146 | 2013 |
| Meta-analysis of genome-wide association studies of aggressive and chronic periodontitis identifies two novel risk loci M Munz, GM Richter, BG Loos, S Jepsen, K Divaris, S Offenbacher, ... European Journal of Human Genetics 27 (1), 102-113, 2019 | 75 | 2019 |
| A novel missense mutation in the EDA gene associated with X-linked recessive isolated hypodontia M Rasool, J Schuster, M Aslam, M Tariq, I Ahmad, A Ali, M Entesarian, ... Journal of human genetics 53 (10), 894-898, 2008 | 43 | 2008 |
| Genetic heterogeneity in Pakistani microcephaly families revisited I Ahmad, SM Baig, AR Abdulkareem, MS Hussain, I Sur, MR Toliat, ... Clinical genetics 92 (1), 62-68, 2017 | 37 | 2017 |
| An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 … S Rasool, JM Baig, A Moawia, I Ahmad, M Iqbal, SS Waseem, M Asif, ... Molecular genetics & genomic medicine 8 (9), e1408, 2020 | 26 | 2020 |
| CDK5RAP2 interaction with components of the Hippo signaling pathway may play a role in primary microcephaly SK Sukumaran, M Stumpf, S Salamon, I Ahmad, K Bhattacharya, ... Molecular Genetics and Genomics 292 (2), 365-383, 2017 | 23 | 2017 |
| Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel S ur Rehman, SM Baig, H Eiberg, S ur Rehman, I Ahmad, NA Malik, ... Neurogenetics 12 (3), 247-251, 2011 | 12 | 2011 |
| Non-bullous congentital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12 S Nawaz, M Tariq, I Ahmad, NA Malik, SM Baig, N Dahl, J Klar European Journal of Dermatology 22 (2), 178-181, 2012 | 10 | 2012 |
| Report of Hermansky–Pudlak Syndrome in Two Families with Novel Variants in HPS3 and HPS4 Genes Q Zaman, M Anas, G Rehman, Q Khan, A Iftikhar, M Ahmad, M Owais, ... Genes 14 (1), 145, 2023 | 6 | 2023 |
| A Novel Missense Mutation in TNNI3K Causes Recessively Inherited Cardiac Conduction Disease in a Consanguineous Pakistani Family S Ramzan, S Tennstedt, M Tariq, S Khan, H Noor Ul Ayan, A Ali, M Munz, ... Genes 12 (ISSN 2073-4425), 1282, 2021 | 6 | 2021 |
| Novel Variants in MPV17, PRX, GJB1, and SACS Cause Charcot–Marie–Tooth and Spastic Ataxia of Charlevoix–Saguenay Type Diseases Q Zaman, MA Khan, K Sahar, G Rehman, H Khan, M Rehman, I Ahmad, ... Genes 14 (2), 328, 2023 | 5 | 2023 |
| A novel MAP3K20 mutation causing centronuclear myopathy-6 with fiber-type disproportion in a Pakistani family I Ahmad, A Khan, H Noor Ul Ayan, B Budde, J Altmüller, AA Korejo, ... Journal of Human Genetics 68 (2), 107-109, 2023 | 5 | 2023 |
| A 24‐generation‐old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome E Kaygusuz, AIA Khayyat, U Abdullah, BS Budde, M Asif, I Ahmed, ... Clinical Genetics 100 (4), 486-488, 2021 | 4 | 2021 |
| NGS-driven molecular diagnosis of heterogeneous hereditary neurological disorders reveals novel and known variants in disease-causing genes A Khan, S Tian, M Tariq, S Khan, M Safeer, N Ullah, N Akbar, I Javed, ... Molecular Genetics and Genomics, 1-13, 2022 | 3 | 2022 |
| The interleukin-11 receptor variant p. W307R results in craniosynostosis in humans I Ahmad, J Lokau, B Kespohl, NA Malik, SM Baig, R Hartig, D Behme, ... Scientific Reports 13 (1), 13479, 2023 | 2 | 2023 |
| Homozygous frameshift variant in desmoglein 2 gene causes biventricular arrhythmogenic right ventricular cardiomyopathy HNU Ayan, PS Ali, AA Korejo, H Thiele, P Nürnberg, M Tariq, SZ Jamal, ... Clinical genetics, 2023 | | 2023 |
| In memoriam: Prof. Dr. rer. nat. Jeanette Erdmann PW Shah, S Hashmi, T Reinberger, N Odenthal, L Eichelmann, ... IUBMB life, 2023 | | 2023 |
Joerg StriessnigUniversity of Innsbruck, AustriaVerified email at uibk.ac.at
