Autosomal recessive primary microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum S Mahmood, W Ahmad, MJ Hassan Orphanet journal of rare diseases 6, 1-15, 2011 | 210 | 2011 |
CtIP Mutations Cause Seckel and Jawad Syndromes P Qvist, P Huertas, S Jimeno, M Nyegaard, MJ Hassan, SP Jackson, ... PLoS genetics 7 (10), e1002310, 2011 | 158 | 2011 |
Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39 JM Schultz, SN Khan, ZM Ahmed, S Riazuddin, AM Waryah, D Chhatre, ... The American Journal of Human Genetics 85 (1), 25-39, 2009 | 121 | 2009 |
Genetic studies of autosomal recessive primary microcephaly in 33 Pakistani families: novel sequence variants in ASPM gene A Gul, MJ Hassan, S Mahmood, W Chen, S Rahmani, MI Naseer, ... Neurogenetics 7, 105-110, 2006 | 76 | 2006 |
A novel deletion mutation in CENPJ gene in a Pakistani family with autosomal recessive primary microcephaly A Gul, MJ Hassan, S Hussain, SI Raza, MS Chishti, W Ahmad Journal of human genetics 51 (9), 760-764, 2006 | 66 | 2006 |
Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability RLP Santos-Cortez, V Khan, FS Khan, ZN Mughal, I Chakchouk, K Lee, ... Human genetics 137, 735-752, 2018 | 59 | 2018 |
Previously described sequence variant in CDK5RAP2gene in a Pakistani family with autosomal recessive primary microcephaly MJ Hassan, M Khurshid, Z Azeem, P John, G Ali, MS Chishti, W Ahmad BMC medical genetics 8, 1-7, 2007 | 54 | 2007 |
Autosomal-recessive hearing impairment due to rare missense variants within S1PR2 RLP Santos-Cortez, R Faridi, AU Rehman, K Lee, M Ansar, X Wang, ... The American Journal of Human Genetics 98 (2), 331-338, 2016 | 52 | 2016 |
Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly R Kousar, MJ Hassan, B Khan, S Basit, S Mahmood, A Mir, W Ahmad, ... BMC neurology 11, 1-6, 2011 | 46 | 2011 |
In silico analysis of SIGMAR1 variant (rs4879809) segregating in a consanguineous Pakistani family showing amyotrophic lateral sclerosis without frontotemporal … MI Ullah, A Ahmad, SI Raza, A Amar, A Ali, A Bhatti, P John, A Mohyuddin, ... Neurogenetics 16, 299-306, 2015 | 44 | 2015 |
Novel protein-truncating mutations in the ASPM gene in families with autosomal recessive primary microcephaly A Gul, M Tariq, MN Khan, MJ Hassan, G Ali, W Ahmad Journal of neurogenetics 21 (3), 153-163, 2007 | 38 | 2007 |
Ectodermal dysplasia of hair and nail type: mapping of a novel locus to chromosome 17p12–q21. 2 M Naeem, M Jelani, K Lee, G Ali, MS Chishti, A Wali, A Gul, P John, ... British Journal of Dermatology 155 (6), 1184-1190, 2006 | 33 | 2006 |
Intragenic deletions in the dystrophin gene in 211 Pakistani Duchenne muscular dystrophy patients MJ Hassan, S Mahmood, G Ali, N Bibi, I Waheed, MA Rafiq, M Ansar, ... Pediatrics International 50 (2), 162-166, 2008 | 30 | 2008 |
A syndromic form of autosomal recessive congenital microcephaly (Jawad syndrome) maps to chromosome 18p11. 22–q11. 2 MJ Hassan, MS Chishti, SM Jamal, M Tariq, W Ahmad Human genetics 123, 77-82, 2008 | 27 | 2008 |
DFNB68, a novel autosomal recessive non-syndromic hearing impairment locus at chromosomal region 19p13.2 RLP Santos, MJ Hassan, S Sikandar, K Lee, G Ali, PE Martin, ... Human genetics 120, 85-92, 2006 | 25 | 2006 |
Recurrent mutations in functionally-related EDA and EDAR genes underlie X-linked isolated hypodontia and autosomal recessive hypohidrotic ectodermal dysplasia Z Azeem, SKUH Naqvi, M Ansar, A Wali, AK Naveed, G Ali, MJ Hassan, ... Archives of dermatological research 301, 625-629, 2009 | 20 | 2009 |
Association between tumour necrosis‐α gene polymorphisms and acne vulgaris in a Pakistani population NM Aisha, J Haroon, S Hussain, CM Tahir, M Ikramullah, H Rahim, ... Clinical and Experimental Dermatology 41 (3), 297-301, 2016 | 19 | 2016 |
What drives interest rate spreads of commercial banks in Pakistan? Empirical evidence based on panel data M Hassan, B Khan SBP Research Bulletin 6 (2), 15-36, 2010 | 19 | 2010 |
A novel locus for alopecia with mental retardation syndrome (APMR2) maps to chromosome 3q26. 2‐q26. 31 A Wali, P John, A Gul, K Lee, MS Chishti, G Ali, MJ Hassan, SM Leal, ... Clinical genetics 70 (3), 233-239, 2006 | 18 | 2006 |
A novel autosomal recessive non-syndromic hearing impairment locus (DFNB47) maps to chromosome 2p25.1-p24.3 MJ Hassan, RLP Santos, MA Rafiq, MH Chahrour, TL Pham, M Wajid, ... Human genetics 118, 605-610, 2006 | 18 | 2006 |