|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|Non-bullous congentital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12|
N DAHL, J KLAR
|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
|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
|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
|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
|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
|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
|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
|Fine mapping of MRT9 locus through genome wide homozygosity mapping in a consanguineous Pakistani family|
SU Rehman, SM Baig, L Hasen, I Ahmed, R Ali, M Hussain
JPMA. The Journal of the Pakistan Medical Association 69 (12), 1903-1906, 2019
|Report of a recurrent mutation in ARS (component B) gene with severe Mal de Meleda in a large consanguineous Pakistani family|
SM Baig, S Nawaz, M Tariq, A Azhar, M Rasool, SM Bakhtiar, I Ahmad, ...