Selected Publications
- Irshad S, Santos RLP, Muhammad D, Lee K, McArthur N, Haque S, Ahmad W, Leal SM (2005) Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB55 to chromosome 4q12-q13.2. Clin Genet, 68:262-267
- Santos RLP, Wajid M, Khan M, McArthur N, Pham T, Bhatti A, Lee K, Irshad S, Mir A, Yan K, Chahrour M, Ansar M, Ahmad W, Leal SM (2005) Novel sequence variants in the TMC1 genes in Pakistani families with autosomal recessive hearing impairment. Hum Mut, 26:396
- Hassan MJ, Santos RLP, Rafiq MA, Chahrour MH, Pham TL, Wajid M, Hijab N, Wambangco M, Lee K, Ansar M, Yan K, Ahmad W, Leal SM (2006) A novel autosomal recessive non-syndromic hearing impairment locus (DFNB47) maps to chromosome 2p25.1-p24.3. Hum Genet, 118:605-610
- Santos RLP,El-Shanti H, Sikandar S, Bhatti A, Yan K, Chahrour M, Lee K, Mahasneh AA, McArthur N, Pham TL, Ahmad W, Leal SM (2006) Novel sequence variants in the TMIE gene in families with autosomal recessive non-syndromic hearing impairment. J Mol Med, 84:226-231
- Naeem M, Wajid M, Lee K, Leal SM, Ahmad W (2006) A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type. J Med Genet, 43:274-9
- Tariq A, Santos RLP, Khan MN, Lee K, Hassan MJ, Ahmad W, Leal SM (2006) Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB65 to chromosome 20q13.2-q13.32. J Mol Med, 84:484-90
- El-Shanti H, Daoud A, Sadoon AA, Leal SM, Chen S, Lee K, Spiegel R (2006) A distinct autosomal recessive ataxia maps to chromosome 12 in an inbred family from Jordan. Brain Dev, 28:353-7
- Naeem M, Jelani M, Lee K, Ali G, Shah W, Raza SI, Gul A, Muhammad Chisti MS, John P, Hassan MD, Leal SM, Ahmad W (2006) Ectodermal dysplasia of hair and nail type: mapping of a novel locus to chromosome 17p12-q21.2 and mutation analysis of candidate genes. Br J Dermatol, 155:1184-90.
- Wang QJ, Li QZ, Rao SQ, Lee K, Yang WY, Zhai SQ, Guo WW, Guo YF, Yu N, Zhao YL, Yuan H, Guan J, Leal SM, Han DY, Shen Y (2006) AUNX1, a novel locus responsible for X-linked recessive and early-onset auditory neuropathy in an extended 5-generation Chinese family, maps to Xq23-27.3. J Med Genet, 43:33
- Ali G, Santos RLP, John P, Lee K, Ahmad W, Leal SM (2006) The Mapping of DFNB62, a New Locus for Autosomal Recessive Non-syndromic Hearing Impairment, to Chromosome 12p13.2-p11.23. Clin Genet, 69:429-33
- Santos RLP, Hassan MJ, Sikandar S, Lee K, Ali G, Martin Jr. PE, Ahmad W, Leal SM (2006) DFNB68, a novel autosomal recessive non-syndromic hearing impairment locus at chromosomal region 19p13.2. Hum Genet, 120:85-92
- Wali A, John P, Gul A, Chishti MS, Lee K, Ali G, Hassan MJ, Leal SM, Ahmad W (2006) A Novel Locus for Alopecia with Mental Retardation Syndrome (APMR2) Maps to Chromosome 3q26.2-q26.31. Clin Genet, 70:233-9
- Mendoza G, Pemberton TJ, Lee K, Scarel-Caminaga R, Mehrian-Shai R, Gonzalez-Quevedo C, Ninis V, Hartiala J, Allayee H, Snead ML, Leal SM, Line SRP and Patel PI (2007) A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3. Hum Genet, 120:653-62
- Wali A, Ali G, John P, Lee K, Chishti MS, Leal SM, Ahmad W. (2007) Mapping of a gene for alopecia with mental retardation syndrome (APMR3) on chromosome 18q11.2-q12.2. Ann Hum Genet, 71(Pt 5):570-7
- Collin RWJ, Kalay E, Tariq M, Peters T, van der Zwaag B, Venselaar H, Oostrik J, Lee K, Ahmed ZM, Çaylan R, Li Y, Spierenburg HA, Eyupoglu E, Heister A, Riazuddin S, Bahat E, Arslan S, Wollnik B, Brunner HG, Cremers CWRJ, Karaguzel A, Ahmad W, Cremers FPM, Vriend G, Friedman TG, Riazuddin S, Leal SM, Kremer H (2008) Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal recessive nonsyndromic hearing impairment DFNB35. Am J Hum Genet, 82:125-38
- Chishti MS, Bhatti A, Tamim S, Lee K, M-L McDonald, Leal SM, Ahmad W (2008) Novel splice site mutations in TRIC gene underlies autosomal recessive non syndromic hearing impairment in three Pakistani families. J Hum Genet, 53:101-5
- Bhatti A, Lee K, McDonald M-L, Wajid M, Ansar M, Ahmad W, Leal SM (2008): Mapping of a new autosomal recessive non-syndromic hearing impairment locus (DFNB45) to chromosome 1q43-q44. Clin Genet,73:395-8
- Marzena Gajecka, Uppala Radhakrishna, Daniel Winters, Swapan K. Nath, Malgorzata Rydzanicz, Uppala Ratnamala, Kimberly Ewing, A Molinari, JA Pitarque, Kwanghyuk Lee, Suzanne M. Leal, Bassem A. Bejjani (2008) Localization of a gene for Keratoconus to a 5.6 Mb interval on 13q32. (Submitted)
- Kim L McBride, Gloria Zender, Sara Fitzgerald-Butt, Daniel Koehler, Susan Fernbach, Kwanghyuk Lee, Jeff Towbin, Suzanne M. Leal, John Belmont (2008) Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, hypoplastic left heart syndrome) (Submitted)
- Mapping of novel hearing impairment locus DFNB71 on chromosome 8 (in preparation)
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