Follow
Ali Ghazanfar
Ali Ghazanfar
University of Azad Jammu and Kashmir, Quaid-i-Azam University, King Saud University Saudi Arabia
Verified email at ajku.edu.pk - Homepage
Title
Cited by
Cited by
Year
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
1952012
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
1062009
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
1002005
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
902011
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
852007
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
732006
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
682014
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
642010
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
552009
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
502012
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
492008
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
462007
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
412012
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
412011
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
402018
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
372008
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
372008
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
372007
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
322008
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
312010
The system can't perform the operation now. Try again later.
Articles 1–20