| Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability MA Khan, MA Rafiq, A Noor, S Hussain, JV Flores, V Rupp, AK Vincent, ... The American Journal of Human Genetics 90 (5), 856-863, 2012 | 193 | 2012 |
| 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 | 106 | 2009 |
| Low prevalence of Connexin 26 (GJB2) variants in Pakistani families with autosomal recessive non‐syndromic hearing impairment RLP Santos, M Wajid, TL Pham, J Hussan, G Ali, W Ahmad, SM Leal Clinical genetics 67 (1), 61-68, 2005 | 100 | 2005 |
| Mutations in the alpha 1, 2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability MA Rafiq, AW Kuss, L Puettmann, A Noor, A Ramiah, G Ali, H Hu, ... The American Journal of Human Genetics 89 (1), 176-182, 2011 | 88 | 2011 |
| A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis G Ali, MS Chishti, SI Raza, P John, W Ahmad Human genetics 121 (3), 319-325, 2007 | 84 | 2007 |
| 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 (2), 105-110, 2006 | 73 | 2006 |
| Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability R Law, T Dixon-Salazar, J Jerber, N Cai, AA Abbasi, MS Zaki, K Mittal, ... The American Journal of Human Genetics 95 (6), 721-728, 2014 | 65 | 2014 |
| Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment M Schraders, K Lee, J Oostrik, PLM Huygen, G Ali, LH Hoefsloot, ... The American Journal of Human Genetics 86 (2), 138-147, 2010 | 64 | 2010 |
| Mutation in the HPGD gene encoding NAD+ dependent 15-hydroxyprostaglandin dehydrogenase underlies isolated congenital nail clubbing (ICNC) M Tariq, Z Azeem, G Ali, MS Chishti, W Ahmad Journal of Medical Genetics 46 (1), 14-20, 2009 | 55 | 2009 |
| A novel homozygous missense mutation in WNT10B in familial split‐hand/foot malformation S Khan, S Basit, FK Zimri, N Ali, G Ali, M Ansar, W Ahmad Clinical genetics 82 (1), 48-55, 2012 | 50 | 2012 |
| Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3) Z Azeem, M Jelani, G Naz, M Tariq, N Wasif, S Kamran-ul-Hassan Naqvi, ... Human genetics 123 (5), 515-519, 2008 | 48 | 2008 |
| 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), 1-7, 2007 | 46 | 2007 |
| Biosafety perspective of clinical laboratory workers: a profile of Pakistan S Nasim, A Shahid, MA Mustufa, GM Arain, G Ali, KL Talreja, R Firdous, ... The Journal of Infection in Developing Countries 6 (08), 611-619, 2012 | 41 | 2012 |
| A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability MA Khan, MA Rafiq, A Noor, N Ali, G Ali, JB Vincent, M Ansar BMC medical genetics 12 (1), 1-7, 2011 | 40 | 2011 |
| 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 | 37 | 2007 |
| 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 (9), 735-752, 2018 | 36 | 2018 |
| A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani family S Basit, SKH Naqvi, N Wasif, G Ali, M Ansar, W Ahmad BMC medical genetics 9 (1), 1-6, 2008 | 36 | 2008 |
| A novel deletion mutation in LIPH gene causes autosomal recessive hypotrichosis (LAH2) M Jelani, N Wasif, G Ali, MS Chishti, W Ahmad Clinical genetics 74 (2), 184-188, 2008 | 36 | 2008 |
| Mapping of three novel loci for non‐syndromic autosomal recessive mental retardation (NS‐ARMR) in consanguineous families from Pakistan MA Rafiq, M Ansar, CR Marshall, A Noor, N Shaheen, A Mowjoodi, ... Clinical genetics 78 (5), 478-483, 2010 | 31 | 2010 |
| Mutation Analysis of the ASPM Gene in 18 Pakistani Families With Autosomal Recessive Primary Microcephaly R Kousar, H Nawaz, M Khurshid, G Ali, SU Khan, H Mir, M Ayub, A Wali, ... Journal of child neurology 25 (6), 715-720, 2010 | 31 | 2010 |
Muhammad Jawad HassanAssociate Professor Department of Biological Sciences, NUMS.Verified email at numspak.edu.pk
