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Kwanghyuk Lee

Research Profile

Concepts & Ideas

Genes & Molecular Sequences

Disorders

Procedures

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Pakistan

Physiology

Chemicals & Drugs

Microsatellite Repeats

Anatomy

Chromosomes, Human, Pair 16

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Publications

TOP 3
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.
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.
Steffie N Tomson; Rejnal Tushe; Nili Avidan; Molly S Bray; Suzanne M Leal; Kwanghyuk Lee; Dianna M Milewicz; Anand K Sarma; David M Eagleman
The genetics of colored sequence synesthesia: suggestive evidence of linkage to 16q and genetic heterogeneity for the condition.

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All Publications

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.
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: Steffie N Tomson; Rejnal Tushe; Nili Avidan; Molly S Bray; Suzanne M Leal; Kwanghyuk Lee; Dianna M Milewicz; Anand K Sarma; David M Eagleman
The genetics of colored sequence synesthesia: suggestive evidence of linkage to 16q and genetic heterogeneity for the condition.
Behavioural brain research 2011;223(1):48-52.
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: Zubair M Ahmed; Rizwan Yousaf; Byung Cheon Lee; Shaheen N Khan; Sue Lee; Kwanghyuk Lee; Tayyab Husnain; Atteeq Ur Rehman; Sarah Bonneux; Muhammad Ansar; Wasim Ahmad; Suzanne M Leal; Vadim N Gladyshev; Inna A Belyantseva; Guy Van Camp; Sheikh Amer Riazuddin; Thomas B Friedman; Saima Riazuddin
Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74.
American journal of human genetics 2011;88(1):19-29.
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: 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.
2011: Jameson Arnett; Sarah B Emery; Theresa B Kim; Angelique K Boerst; Kwanghyuk Lee; Suzanne M Leal; Marci M Lesperance
Autosomal dominant progressive sensorineural hearing loss due to a novel mutation in the KCNQ4 gene.
Archives of otolaryngology--head & neck surgery 2011;137(1):54-9.
2010: Nicola Brunetti-Pierri; Ralph Lachman; Kwanghyuk Lee; Suzanne M Leal; Pasquale Piccolo; Ignatia B Van den Veyver; Carlos A Bacino
Terminal osseous dysplasia with pigmentary defects (TODPD): Follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region.
American journal of medical genetics. Part A 2010;152A(7):1825-31.
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.
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: Kim McBride; Gloria A Zender; Sara M Fitzgerald-Butt; Daniel Koehler; Andres Menesses-Diaz; Susan Fernbach; Kwanghyuk Lee; Jeffrey A Towbin; Suzanne Leal; John W Belmont
Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome).
European journal of human genetics : EJHG 2009;17(6):811-9.
2009: Marzena Gajecka; Uppala Radhakrishna; Daniel Winters; Swapan K Nath; Malgorzata Rydzanicz; Uppala Ratnamala; Kimberly Ewing; Andrea Molinari; Jose A Pitarque; Kwanghyuk Lee; Suzanne M Leal; Bassem A Bejjani
Localization of a gene for keratoconus to a 5.6-Mb interval on 13q32.
Investigative ophthalmology & visual science 2009;50(4):1531-9.
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.
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: 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: Gustavo Mendoza; Trevor Pemberton; Kwanghyuk Lee; Raquel Scarel-Caminaga; Ruty Mehrian-Shai; Catalina Gonzalez-Quevedo; Vasiliki Ninis; Jaana Hartiala; Hooman Allayee; Malcolm Snead; Suzanne M Leal; Sergio R P Line; Pragna I Patel
A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3.
Human genetics 2007;120(5):653-62.
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: 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: Hatem El-Shanti; Azhar Daoud; Ammar A Sadoon; Suzanne M Leal; Shan Chen; Kwanghyuk Lee; Ronald Spiegel
A distinct autosomal recessive ataxia maps to chromosome 12 in an inbred family from Jordan.
Brain & development 2006;28(6):353-7.
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: 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: 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: 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.