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Mohsin Shahzad, PhD
Mohsin Shahzad, PhD
Associate Professor of Molecular Biology
Verified email at szabmu.edu.pk
Title
Cited by
Cited by
Year
Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79
AU Rehman, RJ Morell, IA Belyantseva, SY Khan, ET Boger, M Shahzad, ...
The American Journal of Human Genetics 86 (3), 378-388, 2010
2262010
Efficacy and safety of the RBD-dimer–based COVID-19 vaccine ZF2001 in adults
L Dai, L Gao, L Tao, SR Hadinegoro, M Erkin, Z Ying, P He, RT Girsang, ...
New England journal of medicine 386 (22), 2097-2111, 2022
1752022
Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability
S Riazuddin, M Hussain, A Razzaq, Z Iqbal, M Shahzad, DL Polla, Y Song, ...
Molecular psychiatry 22 (11), 1604-1614, 2017
1312017
Mutations of Human NARS2, Encoding the Mitochondrial Asparaginyl-tRNA Synthetase, Cause Nonsyndromic Deafness and Leigh Syndrome
M Simon, EM Richard, X Wang, M Shahzad, VH Huang, TA Qaiser, ...
PLoS genetics 11 (3), e1005097, 2015
1232015
Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan
BY Choi, ZM Ahmed, S Riazuddin, MA Bhinder, M Shahzad, T Husnain, ...
Clinical genetics 75 (3), 237-243, 2009
1122009
Variants in PUS7 cause intellectual disability with speech delay, microcephaly, short stature, and aggressive behavior
APM De Brouwer, R Abou Jamra, N Körtel, C Soyris, DL Polla, M Safra, ...
The American Journal of Human Genetics 103 (6), 1045-1052, 2018
962018
Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness
AU Rehman, JE Bird, R Faridi, M Shahzad, S Shah, K Lee, SN Khan, ...
Human mutation 37 (10), 991-1003, 2016
862016
Bi-allelic variants in METTL5 cause autosomal-recessive intellectual disability and microcephaly
EM Richard, DL Polla, MZ Assir, M Contreras, M Shahzad, AA Khan, ...
The American Journal of Human Genetics 105 (4), 869-878, 2019
692019
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss
EM Richard, RLP Santos‐Cortez, R Faridi, AU Rehman, K Lee, ...
Human mutation 40 (1), 53-72, 2019
592019
Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p
AU Rehman, K Gul, RJ Morell, K Lee, ZM Ahmed, S Riazuddin, RA Ali, ...
Human genetics 130, 759-765, 2011
542011
Phenolic and flavonoid contents in Malva sylvestris and exploration of active drugs as antioxidant and anti-COVID19 by quantum chemical and molecular docking studies
A Irfan, M Imran, M Khalid, MS Ullah, N Khalid, MA Assiri, R Thomas, ...
Journal of Saudi Chemical Society 25 (8), 101277, 2021
432021
Challenges and solutions for gene identification in the presence of familial locus heterogeneity
AU Rehman, RLP Santos-Cortez, MC Drummond, M Shahzad, K Lee, ...
European Journal of Human Genetics 23 (9), 1207-1215, 2015
422015
Homozygous missense variant in the human CNGA3 channel causes cone-rod dystrophy
RS Shaikh, P Reuter, RA Sisk, T Kausar, M Shahzad, MI Maqsood, ...
European Journal of Human Genetics 23 (4), 473-480, 2015
332015
A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype
Z Iqbal, M Shahzad, LELM Vissers, M Van Scherpenzeel, C Gilissen, ...
European Journal of Human Genetics 21 (8), 844-849, 2013
312013
Genetic analysis through OtoSeq of Pakistani families segregating prelingual hearing loss
M Shahzad, TA Sivakumaran, TA Qaiser, JM Schultz, Z Hussain, ...
Otolaryngology--Head and Neck Surgery 149 (3), 478-487, 2013
302013
Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population
AZM Shahzad M, Yousaf S, Waryah YM, Gul H, Kausar T, Tariq N, Mahmood U, Ali ...
Sci Report, 2017
292017
A novel CHST3 allele associated with spondyloepiphyseal dysplasia and hearing loss in Pakistani kindred
AM Waryah, M Shahzad, H Shaikh, SA Sheikh, NA Channa, RB Hufnagel, ...
Clinical genetics 90 (1), 90-95, 2016
272016
Identification and clinical characterization of Hermansky-Pudlak syndrome alleles in the Pakistani population
S Yousaf, M Shahzad, K Tasleem, SA Sheikh, N Tariq, AS Shabbir, M Ali, ...
Pigment cell & melanoma research 29 (2), 231, 2016
232016
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy
MA Usmani, ZM Ahmed, P Magini, VM Pienkowski, KJ Rasmussen, ...
The American Journal of Human Genetics 108 (7), 1330-1341, 2021
202021
Molecular genetics of MARVELD2 and clinical phenotype in Pakistani and Slovak families segregating DFNB49 hearing loss
G Nayak, L Varga, C Trincot, M Shahzad, PL Friedman, I Klimes, ...
Human genetics 134, 423-437, 2015
192015
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