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Wasim Ahmad

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Genes & Molecular Sequences

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Pakistan

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Rabia Habib; Muhammad Amin-Ud-Din; Wasim Ahmad
A nonsense mutation in the gene ROR2 underlying autosomal dominant brachydactyly type B.
Saadullah Khan; Muhammad Touseef; Imran Ullah; Sulman Basit; Muhammad Nasim Khan; Wasim Ahmad
Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet-Biedl syndrome.
S I Raza; S Khan; N Muhammad; Wasim Ahmad
A novel missense mutation in the gene FZD6 underlies autosomal recessive nail dysplasia.

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All Publications

2013: Rabia Habib; Muhammad Amin-Ud-Din; Wasim Ahmad
A nonsense mutation in the gene ROR2 underlying autosomal dominant brachydactyly type B.
Clinical dysmorphology 2013;22(2):47-50.
2013: Saadullah Khan; Muhammad Touseef; Imran Ullah; Sulman Basit; Muhammad Nasim Khan; Wasim Ahmad
Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet-Biedl syndrome.
Gene 2013;515(1):84-8.
2013: S I Raza; S Khan; N Muhammad; Wasim Ahmad
A novel missense mutation in the gene FZD6 underlies autosomal recessive nail dysplasia.
The British journal of dermatology 2013;168(2):422-5.
2013: Umm-e- Kalsoom; Saadullah Khan; Eva Klopocki; Peter Krawitz; Stefan Mundlos; Muhammad Tariq; Naveed Wasif; Jochen Hecht; Wasim Ahmad
Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type A.
Journal of medical genetics 2013;50(1):47-53.
2013: Mazhar Mustafa Memon; Syed Irfan Raza; Wasim Ahmad; Sulman Basit; Rizwana Kousar; Muhammad Ansar
A novel WDR62 mutation causes primary microcephaly in a Pakistani family.
Molecular biology reports 2013;40(1):591-5.
2013: Naveed Wasif; Wasim Ahmad
A novel nonsense mutation in RSPO4 gene underlies autosomal recessive congenital anonychia in a Pakistani family.
Pediatric dermatology 2013;30(1):139-41.
2012: Hina Mir; Abdul Wali; Ghazanfar Ali; Muhammad Ansar; Muhammad Shoaib Arif; Saadullah Khan; Wasim Ahmad
Mutations in the gene phospholipase C, delta-1 (PLCD1) underlying hereditary leukonychia.
European journal of dermatology : EJD 2012;22(6):736-9.
2012: Bushra Khan; Muhammad Nasim Khan; Muhammad Tariq; Muhammad Touseef; Sulman Basit; Wasim Ahmad
A novel chondroectodermal dysplasia mapped to chromosome 2q24.1-q31.1.
European journal of medical genetics 2012;55(8-9):455-60.
2012: S Khan; F K Zimri; Ghazanfar Ali; N Ali; Muhammad Ansar; Sulman Basit; Wasim Ahmad
A novel homozygous missense mutation in WNT10B in familial split-hand/foot malformation.
Clinical genetics 2012;82(1):48-55.
2012: K Lee; R L P Santos-Cortez; Wasim Ahmad; P B Andrade; Muhammad Ansar; A Islam; S Khan; S Kim; S M Leal
Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment.
Clinical genetics 2012;82(1):56-63.
2012: G Naz; S M Pasternack; C Perrin; M Refke; M Simons; Wasim Ahmad; A Gul; S Khan; M Mattheisen; Regina C Betz
FZD6 encoding the Wnt receptor frizzled 6 is mutated in autosomal-recessive nail dysplasia.
The British journal of dermatology 2012;166(5):1088-94.
2012: Muhammad Ansar; Sulman Basit; Syed Kamran-ul-Hassan Naqvi; Wasim Ahmad
Genetic mapping of an autosomal recessive postaxial polydactyly type A to chromosome 13q13.3-q21.2 and screening of the candidate genes.
Human genetics 2012;131(3):415-22.
2012: Kwanghyuk Lee; Regie Lyn P Santos-Cortez; Wasim Ahmad; Paula B Andrade; Muhammad Ansar; Bushra Khan; Suzanne M Leal
Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss.
American journal of medical genetics. Part A 2012;158A(2):315-21.
2012: Saadullah Khan; Noor Muhammad; Muhammad Nawaz; Sanaullah Abbasi; Raja Hussain Ali; Wasim Ahmad
Novel mutations in natriuretic peptide receptor-2 gene underlie acromesomelic dysplasia, type maroteaux.
BMC medical genetics 2012;13():44.
2011: Rabia Habib; Muhammad Nasim Khan; Saadullah Khan; Sulman Basit; Wasim Ahmad
A novel splice site mutation in gene C2orf37 underlying Woodhouse-Sakati syndrome (WSS) in a consanguineous family of Pakistani origin.
Gene 2011;490(1-2):26-31.
2011: Atteeq U Rehman; Saima Riazuddin; Sheikh Amer Riazuddin; Mohsin Shahzad; Wasim Ahmad; Zubair M Ahmed; Rana A Ali; Paula B Andrade; Carmen C Brewer; Khitab Gul; Ateeq-Ul Jaleel; Saadullah Khan; Shaheen N Khan; Suzanne M Leal; Kwanghyuk Lee; Robert J Morell; Thomas B Friedman
Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p.
Human genetics 2011;130(6):759-65.
2011: Zahid Azeem; Sulman Basit; Adeel Islam; Syed Kamran-ul-hassan Naqvi; Suhail Razak; Raja Amjad Waheed; Naveed Wasif; Ghazanfar Ali; Muhammad Ayub; Wasim Ahmad
Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families.
The Journal of dermatology 2011;38(8):755-60.
2011: S K Naqvi; H Javaid; N Wasif; Wasim Ahmad
Two novel mutations in the gene EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia.
Orthodontics & craniofacial research 2011;14(3):156-9.
2011: S Khan; H Mir; G Naz; S Shafique; A Wali; N Wasif; T Yamin; Ghazanfar Ali; N Ali; Muhammad Ansar; M Ayub; Sulman Basit; R Habib; S Kamran-Ul-Hassan Naqvi; Wasim Ahmad
Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan.
Clinical and experimental dermatology 2011;36(6):652-4.
2011: Jelani Musharraf; M Salman Chishti; Wasim Ahmad
Mutation in PVRL4 gene encoding nectin-4 underlies ectodermal-dysplasia-syndactyly syndrome (EDSS1).
Journal of human genetics 2011;56(5):352-7.
2011: Naveed Wasif; Syed Kamran ul-Hassan Naqvi; Sulman Basit; Nadir Ali; Muhammad Ansar; Wasim Ahmad
Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families.
Human genetics 2011;129(4):419-24.
2011: Sulman Basit; Kwanghyuk Lee; Rabia Habib; Leon Chen; Regie Lyn P Santos-Cortez; Zahid Azeem; Paula Andrade; Muhammad Ansar; Wasim Ahmad; Suzanne M Leal
DFNB89, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 16q21-q23.2.
Human genetics 2011;129(4):379-85.
2011: Sulman Basit; A Wali; A Aziz; N Muhammad; Jelani Musharraf; Wasim Ahmad
Digenic inheritance of an autosomal recessive hypotrichosis in two consanguineous pedigrees.
Clinical genetics 2011;79(3):273-81.
2011: Sulman Basit; Zafar Iqbal; Masha Umicevic-Mirkov; Syed Kamran Ul-Hassan Naqvi; Marieke Coenen; Muhammad Ansar; Hans van Bokhoven; Wasim Ahmad
A novel deletion mutation in proteoglycan-4 underlies camptodactyly-arthropathy-coxa-vara-pericarditis syndrome in a consanguineous pakistani family.
Archives of medical research 2011;42(2):110-4.
2011: Nosheen Bibi; Saeed Ahmad; Wasim Ahmad; Muhammad Naeem
Molecular genetic analysis of consanguineous Pakistani families with autosomal recessive hypohidrotic ectodermal dysplasia.
The Australasian journal of dermatology 2011;52(1):37-42.
2011: Musharraf Jelani; Muhammad Tariq; Iftikhar Ahmad Jan; Hazrat Ullah; Muhammad Naeem; Wasim Ahmad
Congenital cutis laxa syndrome maps to a novel locus on chromosome 9q13-q21.32.
Journal of dermatological science 2011;61(2):134-6.
2011: Kwanghyuk Lee; Regie Lyn P Santos-Cortez; Wasim Ahmad; Muhammad Ansar; Saadullah Khan; Suzanne M Leal
A Novel ESRRB Deletion Is a Rare Cause of Autosomal Recessive Nonsyndromic Hearing Impairment among Pakistani Families.
Genetics research international 2011;2011():368915.
2011: Kwanghyuk Lee; Regie Lyn P Santos-Cortez; Wasim Ahmad; Mohammad Amin Ud Din; Muhammad Ansar; Suzanne M Leal
Autosomal Recessive Nonsyndromic Hearing Impairment due to a Novel Deletion in the RDX Gene.
Genetics research international 2011;2011():294675.
2011: Rizwana Kousar; Saqib Mahmood; Asif Mir; Wasim Ahmad; Sulman Basit; Muhammad Jawad Hassan; Bushra Khan; Muhammad Ansar
Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly.
BMC neurology 2011;11():119.
2011: Ghazanfar Ali; Paula B Andrade; Muhammad Ansar; Sulman Basit; Leon Chen; Jelani Musharraf; Kwanghyuk Lee; Regie Lyn P Santos-Cortez; Wasim Ahmad; Suzanne M Leal
Novel autosomal recessive nonsyndromic hearing impairment locus DFNB90 maps to 7p22.1-p15.3.
Human heredity 2011;71(2):106-12.
2010: Syed Kamran-ul-Hassan Naqvi; Zahid Azeem; Ghazanfar Ali; Wasim Ahmad
A novel splice-acceptor site mutation in CDH3 gene in a consanguineous family exhibiting hypotrichosis with juvenile macular dystrophy.
Archives of dermatological research 2010;302(9):701-3.
2010: S Khan; S Muzaffar; Muhammad Tariq; A Khan; Sulman Basit; Wasim Ahmad
Mapping of a novel locus for an autosomal recessive form of palmoplantar keratoderma on chromosome 3q27.2-q29.
The British journal of dermatology 2010;163(4):711-8.
2010: Sulman Basit; Ghazanfar Ali; Naveed Wasif; Muhammad Ansar; Wasim Ahmad
Genetic mapping of a novel hypotrichosis locus to chromosome 7p21.3-p22.3 in a Pakistani family and screening of the candidate genes.
Human genetics 2010;128(2):213-20.
2010: Bushra Khan; Zahoor Ahmed; Wasim Ahmad
A novel missense mutation in cathepsin K (CTSK) gene in a consanguineous Pakistani family with pycnodysostosis.
Journal of investigative medicine : the official publication of the American Federation for Clinical Research 2010;58(5):720-4.
2010: Rizwana Kousar; Hira Nawaz; Maryam Khurshid; Ghazanfar Ali; Saad Ullah Khan; Hina Mir; Muhammad Ayub; A Wali; Nadir Ali; Jelani Musharraf; Sulman Basit; Wasim Ahmad; Muhammad Ansar
Mutation analysis of the ASPM gene in 18 Pakistani families with autosomal recessive primary microcephaly.
Journal of child neurology 2010;25(6):715-20.
2010: Gul Naz; Ghazanfar Ali; Syed Kamran-ul-Hassan Naqvi; Zahid Azeem; Wasim Ahmad
Mapping of a novel autosomal recessive hypotrichosis locus on chromosome 10q11.23–22.3.
Human genetics 2010;127(4):395-401.
2010: Naveed Wasif; Muhammad Tariq; Wasim Ahmad
A novel missense mutation in the EVC gene underlies Ellis-van Creveld syndrome in a Pakistani family.
Pediatrics international : official journal of the Japan Pediatric Society 2010;52(2):240-6.
2010: Margit Schraders; Kwanghyuk Lee; Jaap Oostrik; Patrick Huygen; Ghazanfar Ali; Lies Hoefsloot; Joris Veltman; Frans P M Cremers; Sulman Basit; Muhammad Ansar; Cor W R J Cremers; Henricus P M Kunst; Wasim Ahmad; Ronald J C Admiraal; Suzanne M Leal; Hannie Kremer
Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment.
American journal of human genetics 2010;86(2):138-47.
2010: Naveed Wasif; Muhammad Tariq; Ghazanfar Ali; Muhammad Jawad Hassan; Wasim Ahmad
A novel splice site mutation in the EDAR gene underlies autosomal recessive hypohidrotic ectodermal dysplasia in a Pakistani family.
Pediatric dermatology 2010;27(1):106-8.
2009: Muhammad Ayub; Sulman Basit; Jelani Musharraf; Fazal Ur Rehman; Muhammad Iqbal; Masoom Yasinzai; Wasim Ahmad
A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles.
American journal of human genetics 2009;85(4):515-20.
2009: Zahid Azeem; Syed Kamran-Ul-Hassan Naqvi; Muhammad Ansar; A Wali; Abdul Khaliq Naveed; Ghazanfar Ali; Muhammad Jawad Hassan; Muhammad Tariq; Sulman Basit; Wasim Ahmad
Recurrent mutations in functionally-related EDA and EDAR genes underlie X-linked isolated hypodontia and autosomal recessive hypohidrotic ectodermal dysplasia.
Archives of dermatological research 2009;301(8):625-9.
2009: Julie M Schultz; Shaheen N Khan; Zubair M Ahmed; Saima Riazuddin; Ali M Waryah; Dhananjay Chhatre; Matthew F Starost; Barbara Ploplis; Stephanie Buckley; David Velásquez; Madhulika Kabra; Kwanghyuk Lee; Muhammad J Hassan; Ghazanfar Ali; Muhammad Ansar; Manju Ghosh; Edward R Wilcox; Wasim Ahmad; Glenn Merlino; Suzanne M Leal; Sheikh Amer Riazuddin; Thomas B Friedman; Robert J Morell
Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39.
American journal of human genetics 2009;85(1):25-39.
2009: Muhammad Tariq; M Ayub; Jelani Musharraf; Sulman Basit; G Naz; N Wasif; S I Raza; A K Naveed; S ullah Khan; Z Azeem; M Yasinzai; A Wali; Ghazanfar Ali; M Salman Chishti; Wasim Ahmad
Mutations in the P2RY5 gene underlie autosomal recessive hypotrichosis in 13 Pakistani families.
The British journal of dermatology 2009;160(5):1006-10.
2009: Muhammad Tariq; Muhammad Nasim Khan; Wasim Ahmad
Ectodermal dysplasia-cutaneous syndactyly syndrome maps to chromosome 7p21.1-p14.3.
Human genetics 2009;125(4):421-9.
2009: Gul Naz; Bushra Khan; Ghazanfar Ali; Zahid Azeem; A Wali; Muhammad Ansar; Wasim Ahmad
Novel missense mutations in lipase H (LIPH) gene causing autosomal recessive hypotrichosis (LAH2).
Journal of dermatological science 2009;54(1):12-6.
2009: Muhammad Salman Chishti; Kwanghyuk Lee; Merry-Lynn McDonald; Muhammad Jawad Hassan; Muhammad Ansar; Wasim Ahmad; Suzanne M Leal
Novel autosomal recessive non-syndromic hearing impairment locus (DFNB71) maps to chromosome 8p22-21.3.
Journal of human genetics 2009;54(3):141-4.
2009: M Tariq; Z Azeem; G Ali; M S Chishti; Wasim Ahmad
Mutation in the HPGD gene encoding NAD+ dependent 15-hydroxyprostaglandin dehydrogenase underlies isolated congenital nail clubbing (ICNC).
Journal of medical genetics 2009;46(1):14-20.
2009: S Kamran-ul-Hassan Naqvi; S I Raza; A K Naveed; Peter John; Wasim Ahmad
A novel deletion mutation in the phospholipase H (LIPH) gene in a consanguineous Pakistani family with autosomal recessive hypotrichosis (LAH2).
The British journal of dermatology 2009;160(1):194-6.
2008: M Tariq; S Ahmad; Wasim Ahmad
A novel missense mutation in the TRPS1 gene underlies trichorhinophalangeal syndrome type III.
The British journal of dermatology 2008;159(2):476-8.
2008: Jelani Musharraf; N Wasif; Ghazanfar Ali; M Salman Chishti; Wasim Ahmad
A novel deletion mutation in LIPH gene causes autosomal recessive hypotrichosis (LAH2).
Clinical genetics 2008;74(2):184-8.
2008: Zahid Azeem; Jelani Musharraf; Gul Naz; Muhammad Tariq; Naveed Wasif; Syed Kamran-Ul-Hassan Naqvi; Muhammad Ayub; Masoom Yasinzai; Muhammad Amin-Ud-Din; A Wali; Ghazanfar Ali; M Salman Chishti; Wasim Ahmad
Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3).
Human genetics 2008;123(5):515-9.
2008: Muhammad J Hassan; Saqib Mahmood; Ghazanfar Ali; Nazia Bibi; Ishrat Waheed; Muhammad A Rafiq; Muhammad Ansar; Wasim Ahmad
Intragenic deletions in the dystrophin gene in 211 Pakistani Duchenne muscular dystrophy patients.
Pediatrics international : official journal of the Japan Pediatric Society 2008;50(2):162-6.
2008: M Salman Chishti; N Kausar; Muhammad Arshad Rafiq; M Amin; Wasim Ahmad
A novel missense mutation in RSPO4 gene underlies autosomal recessive congenital anonychia in a consanguineous Pakistani family.
The British journal of dermatology 2008;158(3):621-3.
2008: Muhammad Jawad Hassan; M Salman Chishti; Syed Muhammad Jamal; Muhammad Tariq; Wasim Ahmad
A syndromic form of autosomal recessive congenital microcephaly (Jawad syndrome) maps to chromosome 18p11.22-q11.2.
Human genetics 2008;123(1):77-82.
2008: Sulman Basit; Syed Kamran-ul-Hassan Naqvi; Naveed Wasif; Ghazanfar Ali; Muhammad Ansar; Wasim Ahmad
A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani family.
BMC medical genetics 2008;9():102.
2008: Muhammad Tariq; M Salman Chishti; Ghazanfar Ali; Wasim Ahmad
A novel locus for ectodermal dysplasia of hairs, nails and teeth type maps to chromosome 18q22.1-22.3.
Annals of human genetics 2008;72(Pt 1):19-25.
2008: Rob W J Collin; Ersan Kalay; Muhammad Tariq; Theo Peters; Bert van der Zwaag; Hanka Venselaar; Jaap Oostrik; Kwanghyuk Lee; Zubair M Ahmed; Refik Caylan; Yun Li; Henk A Spierenburg; Erol Eyupoglu; Angelien Heister; Saima Riazuddin; Elif Bahat; Muhammad Ansar; Selcuk Arslan; Bernd Wollnik; Han G Brunner; Cor W R J Cremers; Ahmet Karaguzel; Wasim Ahmad; Frans P M Cremers; Gert Vriend; Thomas B Friedman; Sheikh Amer Riazuddin; Suzanne M Leal; Hannie Kremer
Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35.
American journal of human genetics 2008;82(1):125-38.
2008: M Salman Chishti; Attya Bhatti; Sana Tamim; Kwanghyuk Lee; Merry-Lynn McDonald; Suzanne M Leal; Wasim Ahmad
Splice-site mutations in the TRIC gene underlie autosomal recessive nonsyndromic hearing impairment in Pakistani families.
Journal of human genetics 2008;53(2):101-5.
2007: Muhammad Naeem; Peter John; Ghazanfar Ali; Wasim Ahmad
Pure hair-nail ectodermal dysplasia maps to chromosome 12p11.1-q21.1 in a consanguineous Pakistani family.
Clinical and experimental dermatology 2007;32(5):502-5.
2007: A Wali; Ghazanfar Ali; Peter John; Kwanghyuk Lee; M Salman Chishti; Suzanne M Leal; Wasim Ahmad
Mapping of a gene for alopecia with mental retardation syndrome (APMR3) on chromosome 18q11.2-q12.2.
Annals of human genetics 2007;71(Pt 5):570-7.
2007: Asma Gul; Muhammad Tariq; Mohammad Nasim Khan; Muhammad Jawad Hassan; Ghazanfar Ali; Wasim Ahmad
Novel protein-truncating mutations in the ASPM gene in families with autosomal recessive primary microcephaly.
Journal of neurogenetics 2007;21(3):153-63.
2007: A Wali; M Salman Chishti; M Ayub; M Yasinzai; Ghazanfar Ali; Peter John; Wasim Ahmad
Localization of a novel autosomal recessive hypotrichosis locus (LAH3) to chromosome 13q14.11-q21.32.
Clinical genetics 2007;72(1):23-9.
2007: Muhammad Tariq; Naveed Wasif; Muhammad Ayub; Wasim Ahmad
A novel 4-bp insertion mutation in EDA1 gene in a Pakistani family with X-linked hypohidrotic ectodermal dysplasia.
European journal of dermatology : EJD 2007;17(3):209-12.
2007: Ghazanfar Ali; M Salman Chishti; Syed Irfan Raza; Peter John; Wasim Ahmad
A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis.
Human genetics 2007;121(3-4):319-25.
2007: Muhammad Amin-Ud-Din; A Salam; Muhammad Arshad Rafiq; Imran Khaliq; Muhammad Ansar; Wasim Ahmad
Aposthia: a birth defect or normal quantitative recessive human genetic trait?
Eastern Mediterranean health journal = La revue de santé de la Méditerranée orientale = al-Majallah al-ṣiḥḥīyah li-sharq al-mutawassiṭ 2007;13(2):280-6.
2007: Sajid Malik; Katta M Girisha; Muhammad Wajid; Akhilesh K Roy; Shubha R Phadke; Sayedul Haque; Wasim Ahmad; Manuela C Koch; Karl-Heinz Grzeschik
Synpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequences.
BMC medical genetics 2007;8():78.
2007: Muhammad Jawad Hassan; Maryam Khurshid; Zahid Azeem; Peter John; Ghazanfar Ali; M Salman Chishti; Wasim Ahmad
Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly.
BMC medical genetics 2007;8():58.
2006: Muhammad Naeem; Jelani Musharraf; Kwanghyuk Lee; Ghazanfar Ali; M Salman Chishti; A Wali; Asma Gul; Peter John; Muhammad Jawad Hassan; Suzanne M Leal; Wasim Ahmad
Ectodermal dysplasia of hair and nail type: mapping of a novel locus to chromosome 17p12-q21.2.
The British journal of dermatology 2006;155(6):1184-90.
2006: A Wali; Peter John; Asma Gul; Kwanghyuk Lee; M Salman Chishti; Ghazanfar Ali; Muhammad Jawad Hassan; Suzanne M Leal; Wasim Ahmad
A novel locus for alopecia with mental retardation syndrome (APMR2) maps to chromosome 3q26.2-q26.31.
Clinical genetics 2006;70(3):233-9.
2006: A Wali; Muhammad Ansar; Mohammad Nasim Khan; Wasim Ahmad
Atrichia with papular lesions resulting from a novel insertion mutation in the human hairless gene.
Clinical and experimental dermatology 2006;31(5):695-8.
2006: Peter John; Muhammad Tariq; Muhammad Arshad Rafiq; Muhammad Amin-Ud-Din; Dost Muhammad; Ishrat Waheed; Muhammad Ansar; Wasim Ahmad
Recurrent intragenic deletion mutation in desmoglein 4 gene underlies autosomal recessive hypotrichosis in two Pakistani families of Balochi and Sindhi origins.
Archives of dermatological research 2006;298(3):135-7.
2006: Regie Lyn P Santos; Muhammad Jawad Hassan; Shaheen Sikandar; Kwanghyuk Lee; Ghazanfar Ali; Protacio E Martin; Michael Angelo L Wambangco; Wasim Ahmad; Suzanne M Leal
DFNB68, a novel autosomal recessive non-syndromic hearing impairment locus at chromosomal region 19p13.2.
Human genetics 2006;120(1):85-92.
2006: Sajid Malik; A A Abbasi; Muhammad Ansar; Wasim Ahmad; Manuela C Koch; Karl-Heinz Grzeschik
Genetic heterogeneity of synpolydactyly: a novel locus SPD3 maps to chromosome 14q11.2-q12.
Clinical genetics 2006;69(6):518-24.
2006: Aamira Tariq; Regie Lyn P Santos; Mohammad Nasim Khan; Kwanghyuk Lee; Muhammad Jawad Hassan; Wasim Ahmad; Suzanne M Leal
Localization of a novel autosomal recessive nonsyndromic hearing impairment locus DFNB65 to chromosome 20q13.2-q13.32.
Journal of molecular medicine (Berlin, Germany) 2006;84(6):484-90.
2006: Asma Gul; Muhammad Jawad Hassan; Saqib Mahmood; Wenje Chen; Safa Rahmani; Muhammad Imran Naseer; Lisa Dellefave; Noor Muhammad; Muhammad Arshad Rafiq; Muhammad Ansar; M Salman Chishti; Ghazanfar Ali; Teepu Siddique; Wasim Ahmad
Genetic studies of autosomal recessive primary microcephaly in 33 Pakistani families: Novel sequence variants in ASPM gene.
Neurogenetics 2006;7(2):105-10.
2006: Ghazanfar Ali; Regie Lyn P Santos; Peter John; Michael Angelo L Wambangco; Kwanghyuk Lee; Wasim Ahmad; Sm Leal
The mapping of DFNB62, a new locus for autosomal recessive non-syndromic hearing impairment, to chromosome 12p13.2-p11.23.
Clinical genetics 2006;69(5):429-33.
2006: Muhammad Naeem; Muhammad Wajid; Kwanghyuk Lee; Suzanne M Leal; Wasim Ahmad
A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type.
Journal of medical genetics 2006;43(3):274-9.
2006: Regie Lyn P Santos; Hatem El-Shanti; Shaheen Sikandar; Kwanghyuk Lee; Attya Bhatti; Kai Yan; Maria H Chahrour; Nathan McArthur; Thanh L Pham; Amjad Abdullah Mahasneh; Wasim Ahmad; Suzanne M Leal
Novel sequence variants in the TMIE gene in families with autosomal recessive nonsyndromic hearing impairment.
Journal of molecular medicine (Berlin, Germany) 2006;84(3):226-31.
2006: M Salman Chishti; Dost Muhammad; Mahmud Haider; Wasim Ahmad
A novel missense mutation in MSX1 underlies autosomal recessive oligodontia with associated dental anomalies in Pakistani families.
Journal of human genetics 2006;51(10):872-8.
2006: Asma Gul; Muhammad Jawad Hassan; Sabir Hussain; Syed Irfan Raza; M Salman Chishti; Wasim Ahmad
A novel deletion mutation in CENPJ gene in a Pakistani family with autosomal recessive primary microcephaly.
Journal of human genetics 2006;51(9):760-4.
2006: Peter John; Ghazanfar Ali; M Salman Chishti; Syed Muhammad S Naqvi; Suzanne M Leal; Wasim Ahmad
Localization of a novel locus for alopecia with mental retardation syndrome to chromosome 3q26.33-q27.3.
Human genetics 2006;118(5):665-7.
2006: Muhammad Jawad Hassan; Regie Lyn P Santos; Muhammad Arshad Rafiq; Maria H Chahrour; Thanh L Pham; Muhammad Wajid; Nadine Hijab; Michael Angelo L Wambangco; Kwanghyuk Lee; Muhammad Ansar; Kai Yan; Wasim Ahmad; Suzanne M Leal
A novel autosomal recessive non-syndromic hearing impairment locus (DFNB47) maps to chromosome 2p25.1-p24.3.
Human genetics 2006;118(5):605-10.
2005: Sajid Malik; Jörg Schott; Syed Wajahat Ali; Frank Oeffner; Muhammad Amin-Ud-Din; Wasim Ahmad; Karl-Heinz Grzeschik; Manuela C Koch
Evidence for clinical and genetic heterogeneity of syndactyly type I: the phenotype of second and third toe syndactyly maps to chromosome 3p21.31.
European journal of human genetics : EJHG 2005;13(12):1268-74.
2005: Peter John; Muhammad Aslam; Muhammad Arshad Rafiq; Muhammad Amin-Ud-Din; Sayedul Haque; Wasim Ahmad
Atrichia with papular lesions in two Pakistani consanguineous families resulting from mutations in the human hairless gene.
Archives of dermatological research 2005;297(5):226-30.
2005: Regie Lyn P Santos; Muhammad Wajid; Mohammad Nasim Khan; Nathan McArthur; Thanh L Pham; Attya Bhatti; Kwanghyuk Lee; Saba Irshad; Asif Mir; Kai Yan; Maria H Chahrour; Muhammad Ansar; Wasim Ahmad; Suzanne M Leal
Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairment.
Human mutation 2005;26(4):396.
2005: S Irshad; Regie Lyn P Santos; Dost Muhammad; Kwanghyuk Lee; Nathan McArthur; Sayedul Haque; Wasim Ahmad; Suzanne M Leal
Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB55 to chromosome 4q12-q13.2.
Clinical genetics 2005;68(3):262-7.
2005: Muhammad Naeem; Dost Muhammad; Wasim Ahmad
Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia.
The British journal of dermatology 2005;153(1):46-50.
2005: Sajid Malik; Ferda E Percin; Wasim Ahmad; Sitki Percin; Nurten A Akarsu; Manuela C Koch; Karl-Heinz Grzeschik
Autosomal recessive mesoaxial synostotic syndactyly with phalangeal reduction maps to chromosome 17p13.3.
American journal of medical genetics. Part A 2005;134(4):404-8.
2005: Muhammad Aslam; Muhammad Wajid; Maria H Chahrour; Muhammad Ansar; Sayedul Haque; Thanh L Pham; Regie P Santos; Kai Yan; Wasim Ahmad; Suzanne M Leal
A novel autosomal recessive nonsyndromic hearing impairment locus (DFNB42) maps to chromosome 3q13.31-q22.3.
American journal of medical genetics. Part A 2005;133A(1):18-22.
2005: Asif Mir; Muhammad Ansar; Maria H Chahrour; Thanh L Pham; Muhammad Wajid; Sayedul Haque; Kai Yan; Wasim Ahmad; Suzanne M Leal
Mapping of a novel autosomal recessive nonsyndromic deafness locus (DFNB46) to chromosome 18p11.32-p11.31.
American journal of medical genetics. Part A 2005;133A(1):23-6.
2005: Muhammad Arshad Rafiq; Muhammad Faiyaz-Ul-Haque; Mohammad Amin Ud Din; Sajid Malik; Muhammad Sohail; Maqsood Anwar; Sayedul Haque; Andrew D Paterson; Lap-Chee Tsui; Wasim Ahmad
A novel locus of ectodermal dysplasia maps to chromosome 10q24.32-q25.1.
The Journal of investigative dermatology 2005;124(2):338-42.
2005: Sajid Malik; Wasim Ahmad; Karl-Heinz Grzeschik; Manuela C Koch
A simple method for characterising syndactyly in clinical practice.
Genetic counseling (Geneva, Switzerland) 2005;16(3):229-38.
2005: Muhammad Faiyaz-Ul-Haque; Syed Zaidi; L M King; Sayedul Haque; M Patel; Mahmud Ahmad; Teepu Siddique; Wasim Ahmad; Lap-Chee Tsui; Daniel H Cohn
Fine mapping of the X-linked split-hand/split-foot malformation (SHFM2) locus to a 5.1-Mb region on Xq26.3 and analysis of candidate genes.
Clinical genetics 2005;67(1):93-7.
2005: Regie Lyn P Santos; Muhammad Wajid; Thanh L Pham; J Hussan; Ghazanfar Ali; Wasim Ahmad; Suzanne M Leal
Low prevalence of Connexin 26 (GJB2) variants in Pakistani families with autosomal recessive non-syndromic hearing impairment.
Clinical genetics 2005;67(1):61-8.
2004: M Aslam; Maria H Chahrour; A Razzaq; Sayedul Haque; Kai Yan; Suzanne M Leal; Wasim Ahmad
A novel locus for autosomal recessive form of hypotrichosis maps to chromosome 3q26.33-q27.3.
Journal of medical genetics 2004;41(11):849-52.
2004: Muhammad Faiyaz-Ul-Haque; Wasim Ahmad; Syed Zaidi; S Hussain; Sayedul Haque; Mahmud Ahmad; Daniel H Cohn; Lap-Chee Tsui
Novel mutations in the EXT1 gene in two consanguineous families affected with multiple hereditary exostoses (familial osteochondromatosis).
Clinical genetics 2004;66(2):144-51.
2004: Muhammad Arshad Rafiq; Muhammad Ansar; T Pham; Muhammad Amin-Ud-Din; M Anwar; Sayedul Haque; Maria H Chahrour; Kai Yan; Suzanne M Leal; Wasim Ahmad
Localization of a novel locus for hereditary nail dysplasia to chromosome 17q25.1-17q25.3.
Clinical genetics 2004;66(1):73-8.
2004: Muhammad Arshad Rafiq; Muhammad Ansar; Saqib Mahmood; Sayedul Haque; Muhammad Faiyaz-Ul-Haque; Suzanne M Leal; Wasim Ahmad
A recurrent intragenic deletion mutation in DSG4 gene in three Pakistani families with autosomal recessive hypotrichosis.
The Journal of investigative dermatology 2004;123(1):247-8.
2004: Sajid Malik; Muhammad Arshad; Muhammad Amin-Ud-Din; Frank Oeffner; Astrid Dempfle; Sayedul Haque; Manuela C Koch; Wasim Ahmad; Karl-Heinz Grzeschik
A novel type of autosomal recessive syndactyly: clinical and molecular studies in a family of Pakistani origin.
American journal of medical genetics. Part A 2004;126A(1):61-7.
2004: Muhammad Ansar; Maria H Chahrour; Muhammad Amin-Ud-Din; Muhammad Arshad; Sayedul Haque; Thanh L Pham; Kai Yan; Wasim Ahmad; Suzanne M Leal
DFNB44, a novel autosomal recessive non-syndromic hearing impairment locus, maps to chromosome 7p14.1-q11.22.
Human heredity 2004;57(4):195-9.
2003: Muhammad Wajid; Amir Ali Abbasi; Muhammad Ansar; Thanh L Pham; Kai Yan; Sayedul Haque; Wasim Ahmad; Suzanne M Leal
DFNB39, a recessive form of sensorineural hearing impairment, maps to chromosome 7q11.22-q21.12.
European journal of human genetics : EJHG 2003;11(10):812-5.
2003: Muhammad Arshad Rafique; Muhammad Ansar; Syed Muhammad Jamal; Sajid Malik; Muhammad Sohail; Muhammad Faiyaz-Ul-Haque; Sayedul Haque; Suzanne M Leal; Wasim Ahmad
A locus for hereditary hypotrichosis localized to human chromosome 18q21.1.
European journal of human genetics : EJHG 2003;11(8):623-8.
2003: Ana Kljuic; Hisham Bazzi; John P Sundberg; Amalia Martinez-Mir; Ryan O'Shaughnessy; My G Mahoney; Moise Levy; Xavier Montagutelli; Wasim Ahmad; Vincent M Aita; Derek Gordon; Jouni Uitto; David Whiting; Jurg Ott; Stuart Fischer; T Conrad Gilliam; Colin A B Jahoda; Rebecca J Morris; Andrey Panteleyev; Vu Thuong Nguyen; Angela M Christiano
Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris.
Cell 2003;113(2):249-60.
2003: Muhammad Ansar; Mohammad Ramzan; Thanh L Pham; Kai Yan; Syed Muhammad Jamal; Sayedul Haque; Wasim Ahmad; Suzanne M Leal
Localization of a novel autosomal recessive non-syndromic hearing impairment locus (DFNB38) to 6q26-q27 in a consanguineous kindred from Pakistan.
Human heredity 2003;55(1):71-4.
2003: Muhammad Ansar; Mohammad Amin ud Din; Muhammad Arshad; Muhammad Sohail; Muhammad Faiyaz-Ul-Haque; Sayedul Haque; Wasim Ahmad; Suzanne M Leal
A novel autosomal recessive non-syndromic deafness locus (DFNB35) maps to 14q24.1-14q24.3 in large consanguineous kindred from Pakistan.
European journal of human genetics : EJHG 2003;11(1):77-80.
2002: Muhammad Faiyaz-Ul-Haque; Wasim Ahmad; Abdul Wahab; Sayedul Haque; anser azim; Syed Zaidi; Ahmad S Teebi; Mahmud Ahmad; Daniel H Cohn; Teepu Siddique; Lap-Chee Tsui
Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasia.
American journal of medical genetics 2002;111(1):31-7.
2002: Muhammad Faiyaz-Ul-Haque; Wasim Ahmad; Syed Zaidi; Sayedul Haque; Ahmad S Teebi; Mahmud Ahmad; Daniel H Cohn; Lap-Chee Tsui
Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome).
Clinical genetics 2002;61(6):454-8.
2002: Wasim Ahmad; Marion S Ratterree; Andrey Panteleyev; Vincent M Aita; John P Sundberg; Angela M Christiano
Atrichia with papular lesions resulting from mutations in the rhesus macaque (Macaca mulatta) hairless gene.
Laboratory animals 2002;36(1):61-7.
2001: Wasim Ahmad; S Noci; M Faiyaz ul Haque; T Sarno; paolo aridon; M M Ahmad; Muhammad Amin-Ud-Din; Muhammad Arshad Rafiq; S ul Haque; Maurizio De Fusco; Andrea Ballabio; Brunella Franco; Giorgio Casari
Linkage mapping of a nonspecific form of X-linked mental retardation (MRX53) in a large Pakistani family.
American journal of medical genetics 2001;100(1):62-5.
2001: Peter B Cserhalmi-Friedman; J A Frank; Wasim Ahmad; Andrey Panteleyev; Vincent M Aita; Angela M Christiano
Structural analysis reflects the evolutionary relationship between the human desmocollin gene family members.
Experimental dermatology 2001;10(2):95-9.
2001: J Frank; Peter B Cserhalmi-Friedman; Wasim Ahmad; Andrey Panteleyev; Vincent M Aita; Angela M Christiano
Characterization of the desmosomal cadherin gene family: genomic organization of two desmoglein genes on human chromosome 18q12.
Experimental dermatology 2001;10(2):90-4.
2001: J Frank; Vincent M Aita; Wasim Ahmad; HaMut Lam; C Wolff; Angela M Christiano
Identification of a founder mutation in the protoporphyrinogen oxidase gene in variegate porphyria patients from chile.
Human heredity 2001;51(3):160-8.
2000: Vincent M Aita; Wasim Ahmad; Andrey Panteleyev; U Kozlowska; A Kozlowska; T Conrad Gilliam; S Jablonska; Angela M Christiano
A novel missense mutation (C622G) in the zinc-finger domain of the human hairless gene associated with congenital atrichia with papular lesions.
Experimental dermatology 2000;9(2):157-62.
1999: Wasim Ahmad; Andrey Panteleyev; Angela M Christiano
The molecular basis of congenital atrichia in humans and mice: mutations in the hairless gene.
The journal of investigative dermatology. Symposium proceedings / the Society for Investigative Dermatology, Inc. [and] European Society for Dermatological Research 1999;4(3):240-3.
1999: Wasim Ahmad; Maurizio De Fusco; M Faiyaz ul Haque; paolo aridon; T Sarno; M Sohail; S ul Haque; M Ahmad; Andrea Ballabio; Brunella Franco; Giorgio Casari
Linkage mapping of a new syndromic form of X-linked mental retardation, MRXS7, associated with obesity.
European journal of human genetics : EJHG 1999;7(7):828-32.
1999: J Frank; J Nelson; Xiuhua Wang; Liu Yang; Wasim Ahmad; HaMut Lam; Frank K Jugert; K Kalka; Maureen B Poh-Fitzpatrick; G Goerz; Hans F Merk; Angela M Christiano
Erythropoietic protoporphyria: identification of novel mutations in the ferrochelatase gene and comparison of biochemical markers versus molecular analysis as diagnostic strategies.
Journal of investigative medicine : the official publication of the American Federation for Clinical Research 1999;47(6):278-84.
1999: Jorge Frank; Claudio Pignata; Andrey Panteleyev; David Prowse; Howard P Baden; Lorin Weiner; L Gaetaniello; Wasim Ahmad; N Pozzi; Peter B Cserhalmi-Friedman; Vincent M Aita; Hendrik Uyttendaele; D Gordon; Jurg Ott; Janice L Brissette; Angela M Christiano
Exposing the human nude phenotype.
Nature 1999;398(6727):473-4.
1999: Peter B Cserhalmi-Friedman; J Grossman; Sarolta Kárpáti; Wasim Ahmad; A Horvath; Angela M Christiano
Identification of a de novo glycine substitution in the type VII collagen gene in a proband with mild dystrophic epidermolysis bullosa.
Experimental dermatology 1999;8(2):143-5.
1999: Wasim Ahmad; Abraham Zlotogorski; Andrey Panteleyev; HaMut Lam; M Ahmad; M Faiyaz ul Haque; H M Abdallah; L Dragan; Angela M Christiano
Genomic organization of the human hairless gene (HR) and identification of a mutation underlying congenital atrichia in an Arab Palestinian family.
Genomics 1999;56(2):141-8.
1998: Wasim Ahmad; Andrey Panteleyev; John P Sundberg; Angela M Christiano
Molecular basis for the rhino (hrrh-8J) phenotype: a nonsense mutation in the mouse hairless gene.
Genomics 1998;53(3):383-6.
1998: Wasim Ahmad; Andrey Panteleyev; V Henson-Apollonio; John P Sundberg; Angela M Christiano
Molecular basis of a novel rhino (hr(rhChr)) phenotype: a nonsense mutation in the mouse hairless gene.
Experimental dermatology 1998;7(5):298-301.
1998: Andrey Panteleyev; Wasim Ahmad; A M Malashenko; E L Ignatieva; Ralf Paus; John P Sundberg; Angela M Christiano
Molecular basis for the rhino Yurlovo (hr(rhY)) phenotype: severe skin abnormalities and female reproductive defects associated with an insertion in the hairless gene.
Experimental dermatology 1998;7(5):281-8.
1998: Andrey Panteleyev; Ralf Paus; Wasim Ahmad; John P Sundberg; Angela M Christiano
Molecular and functional aspects of the hairless (hr) gene in laboratory rodents and humans.
Experimental dermatology 1998;7(5):249-67.
1998: M Faiyaz ul Haque; Lily M King; Deborah Krakow; R M Cantor; Michael E Rusiniak; Richard T Swank; andrea superti-furga; S Haque; H Abbas; Wasim Ahmad; M Ahmad; Daniel H Cohn
Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse.
Nature genetics 1998;20(2):157-62.
1998: Wasim Ahmad; Alan D Irvine; HaMut Lam; C Buckley; EA Bingham; Andrey Panteleyev; M Ahmad; John A McGrath; Angela M Christiano
A missense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia in a family of Irish travellers.
American journal of human genetics 1998;63(4):984-91.
1998: M Ahmad; M Faiyaz Ul Haque; Wasim Ahmad; H Abbas; Sayedul Haque; Deborah Krakow; David L Rimoin; R S Lachman; Daniel H Cohn
Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred.
American journal of medical genetics 1998;78(5):468-73.
1998: Wasim Ahmad; V Brancolini; M F ul Faiyaz; HaMut Lam; S ul Haque; M Haider; A Maimon; Vincent M Aita; J Owen; D Brown; D J Zegarelli; M Ahmad; Jurg Ott; Angela M Christiano
A locus for autosomal recessive hypodontia with associated dental anomalies maps to chromosome 16q12.1.
American journal of human genetics 1998;62(4):987-91.
1998: Wasim Ahmad; Muhammad Faiyaz-Ul-Haque; V Brancolini; HC Tsou; S ul Haque; HaMut Lam; Vincent M Aita; J Owen; M deBlaquiere; J Frank; Peter B Cserhalmi-Friedman; A Leask; John A McGrath; M Peacocke; M Ahmad; Jurg Ott; Angela M Christiano
Alopecia universalis associated with a mutation in the human hairless gene.
Science (New York, N.Y.) 1998;279(5351):720-4.
1988: N Fatima; Wasim Ahmad; A Khanum; R Ahmad; M H Qazi
Effect of anticalmodulin drugs on testosterone synthesis in hCG stimulated mouse Leydig cells.
Journal of endocrinological investigation 1988;11(1):1-6.