Positions
- Assistant Professor
-
Mol. & Human Gen
Baylor College of Medicine
Houston, TX US
Education
- BS from Konkuk University
- 05/2000 - Seoul, South Korea
- PhD from Baylor College of Medicine
- 05/2009 - Houston, United States
- Human Genetics
- MS from Konkuk University
- Seoul, South Korea
Professional Interests
- Neuro genetics, genome science
Websites
Selected Publications
- Santos-Cortez RLP, Lee K, Giese AP, Ansar M, Amin-ud-din M, Rehn K, Xin X, Aziz A, Chiu I, Ali RH, Smith JD, University of Washington Center for Mendelian Genomics, Shendure J, Bamshad M, Nickerson DA, Ahmed ZM, Ahmad W, Riazuddin S, Leal SM "Adenylate Cyclase 1 (ADCY1) Mutations Cause Recessive Low-Frequency Hearing Impairment in Humans and Defects in Hair Cell Function and Hearing in Zebrafish.." Hum Mol Genet. 2014 Jun 15;23(12):3289-98. Pubmed PMID: 24482543
- Rehman AU, Santos-Cortez RL, Morell RJ, Drummond MC, Ito T, Lee K, Khan A, Basra M, Wasif N, Ayub M, Ali R, Raza S, Univ of WA Centre for Mendelian Genomics, Nickerson DA, Shendure J, Bamshad M, Riazuddin S, Billington N, Khan SN, Friedman PL, et al. "Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86." Am J Hum Genet. 2014 Jan 2;94(1):144-52. Pubmed PMID: 24387994
- Lee K, Chiu I, Santos-Cortez RLP, Basit S, Khan S, Azeem Z, Andrade PB, Kim SS, Ahmad W and Leal SM "Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89." Am J Hum Genet. 2013 Jul 11;93(1):132-40. Pubmed PMID: 23768514
- Lee K, Chiu I, Santos-Cortez RL, Basit S, Khan S, Azeem Z, Andrade PB, Kim SS, Ahmad W, Leal SM "Novel OTOA mutations cause autosomal recessive non-syndromic hearing impairment in Pakistani families." Clin Genet. 2013 Sep;84(3):294-6. Pubmed PMID: 23173898
- Lee K1, Ansar M, Andrade PB, Khan B, Santos-Cortez RL, Ahmad W, Leal SM. "Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss." Am J Med Genet A. 2012 Feb;315-21. Pubmed PMID: 22246673
- Ali G1, Lee K, Andrade PB, Basit S, Santos-Cortez RL, Chen L, Jelani M, Ansar M, Ahmad W, Leal SM. "Novel autosomal recessive nonsyndromic hearing impairment locus DFNB90 maps to 7p22.1-p15.3." Hum Hered. 2011 Jul;71(2):106-12. Pubmed PMID: 21734401
- Lee K1, Khan S, Islam A, Ansar M, Andrade PB, Kim S, Santos-Cortez RL, Ahmad W, Leal SM "Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment." Clin Genet. 2012 Jul;82(1):56-63. Pubmed PMID: 21534946
- Basit S1, Lee K, Habib R, Chen L, Umm-e-Kalsoom, Santos-Cortez RL, Azeem Z, Andrade P, Ansar M, Ahmad W, Leal SM "DFNB89, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 16q21-q23.2." Hum Genet. 2011 Apr;129(4):379-85. Pubmed PMID: 21181198
- Jenkinson E, Rehman A, Walsh T, Clayton-Smith J, Lee K, Morell R, Drummond M, Khan S, Naeem M, Rauf B, Billington N, Schultz J, Urquhart J, Lee M, Berry A, Hanley N, Mehta S, Cilliers D, Clayton P, Kingston H, Smith M, Warner T, Black G, Trump D, et al. "Perrault Syndrome is Caused by Recessive Mutations of the Mitochondrial ATP-dependent Chambered Protease CLPP." Am J Hum Genet. 2013;92:605-13. Pubmed PMID: 21181198
- Riazuddin S, Belyantseva IA, Giese AP, Lee K, Indzhykulian AA, Nandamuri SP, Yousaf R, Sinha GP, Lee S, Terrell D, Hegde RS, Ali RA, Anwar S, Andrade-Elizondo PB, Sirmaci A, Parise LV, Basit S, Wali A, Ayub M, Ansar M, Ahmad W, Khan SN, Akram J, et al. "Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48." Nat Genet. 2012 Sep;44(11):1265-71. Pubmed PMID: 23023331
- Celestino-Soper PB1, Violante S, Crawford EL, Luo R, Lionel AC, Delaby E, Cai G, Sadikovic B, Lee K, Lo C, Gao K, Person RE, Moss TJ, German JR, Huang N, Shinawi M, Treadwell-Deering D, Szatmari P, Roberts W, Fernandez B, Schroer RJ, Stevenson, RE, et al. "A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism." Proc Natl Acad Sci USA. 2012 May 22;109:7974-81. Pubmed PMID: 22566635
- Rehman AU1, Gul K, Morell RJ, Lee K, Ahmed ZM, Riazuddin S, Ali RA, Shahzad M, Jaleel AU, Andrade PB, Khan SN, Khan S, Brewer CC, Ahmad W, Leal SM, Riazuddin S, Friedman TB. "Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p." Hum Genet. 2011 Dec;130(6):759-65. Pubmed PMID: 21660509
- Mendoza-Fandino GA1, Gee JM, Ben-Dor S, Gonzalez-Quevedo C, Lee K, Kobayashi Y, Hartiala J, Myers RM, Leal SM, Allayee H, Patel PI "A novel g.-1258G>A mutation in a conserved putative regulatory element of PAX9 is associated with autosomal dominant molar hypodontia." Clin Genet. 2011 Sep;80(3):265-72. Pubmed PMID: 21443745
- Borck G1, Ur Rehman A, Lee K, Pogoda HM, Kakar N, von Ameln S, Grillet N, Hildebrand M, Ahmed ZM, Nürnberg G, Ansar M, Basit S, Javed Q, Morell RJ, Nasreen N, Shearer AE, Ahmad A, Kahrizi K, Shaikh R, Ali R, Khan S, Goebel I, Meyer N, Kimberling W, et al. "Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42." Am J Hum Genet. 2011 Feb 11;88(2):127-37. Pubmed PMID: 21255762
- Ahmed ZM1, Yousaf R, Lee BC, Khan SN, Lee S, Lee K, Husnain T, Rehman AU, Bonneux S, Ansar M, Ahmad W, Leal SM, Gladyshev VN, Belyantseva IA, Van Camp G, Riazuddin S, Friedman TB, Riazuddin S. "Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74." Am J Hum Genet. 2011 Jan 7;88(1):19-29. Pubmed PMID: 21185009
- Bourquard T*, Lee K*, Al-Ramahi I*, Pham M, Shapiro D, Lagisetty Y, Soleimani S, Mota S, Wilhelm K, Samieinasab M, Kim YW, Huh E, Asmussen J, Katsonis P, Botas J, Lichtarge O. "Functional variants identify sex-specific genes and pathways in Alzheimer's Disease." ; Pubmed PMID: 36861389
- Guo DC, Duan X, Mimnagh K, Cecchi AC, Marin IC, Yu Y, Velasco WV, Lee K, Zhu X, Murdock DR, Leal SM, Wheeler MM, Smith J, Bamshad MJ, Milewicz DM. "An FBN1 deep intronic variant is associated with pseudoexon formation and a variable Marfan phenotype in a five generation family.." ;
- . Parvandeh S, Donehower LA, Panagiotis K, Hsu TK, Asmussen JK, Lee K, Lichtarge O "EPIMUTESTR: a nearest neighbor machine learning approach to predict cancer driver genes from the evolutionary action of coding variants.." ; Pubmed PMID: 35412634
- Shapiro D, Lee K, Asmussen J, Bourquard T, Lichtarge O. "Evolutionary Action-Machine Learning Model Identifies Candidate Genes Associated With Early-Onset Coronary Artery Disease." ; Pubmed PMID: 37642027
- Lagisetty Y, Bourquard T, Al-Ramahi I, Mangleburg CG, Mota S, Soleimani S, Shulman JM, Botas J, Lee K, Lichtarge O. "Identification of risk genes for Alzheimer's disease by gene embedding." ; Pubmed PMID: 36268052
- Pinard A, Ye W, Fraser SM, Rosenfeld JA, Pichurin P, Hickey SE, Guo D, Cecchi AC, Boerio ML, Guey S, Aloui C, Lee K, Kraemer M, Alyemni SO, Bamshad MJ, Nickerson DA, Tournier-Lasserve E, Haider S, Jin SC, Smith ER, Kahle KT, Jan LY, He M, Milewicz DM "Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya disease.." ; Pubmed PMID: 37253099
- Liaqat K*, Chiu I*, Lee K*, Chakchouk I, Andrade-Elizondo PB, Santos-Cortez RLP, Hussain S, Nawaz S, Ansar M, Khan MN, Basit S, Schrauwen I, Ahmad W, Leal SM "Novel missense and 3'-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairment.." ; Pubmed PMID: 30177809
- . Watkin LB, Jessen B, Wiszniewski W, Vece TJ, Jan M, Sha Y, Thamsen M, Santos-Cortez RL, Lee K, ...Boerwinkle E, Eissa NT, Gibbs RA, Lupski JR, Orange JS, Shum AK "COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis." ; Pubmed PMID: 25894502
- Guo DC, Regalado ES, Pinard A, Chen J, Lee K, Rigelsky C, Zilberberg L, Hostetler EM, Aldred M, Wallace SE, Prakash SK, Leal SM, Bamshad MJ, Nickerson DA, Natowicz M, Rifkin DB, Milewicz DM "LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections.." ; Pubmed PMID: 29625025
- Hostetler EM, Regalado ES, Guo DC, Hanna N, Arnaud P, Muiño-Mosquera L, Callewaert BL, Lee K, Leal SM, Wallace SE, Rideout AL, Dyack S, Aatre RD, Boileau C, De Backer J, Jondeau G, Milewicz DM. "SMAD3 pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium." ; Pubmed PMID: 30661052
- Ansar M, Raza SI, Lee K, Irfanullah, Shahi S, Acharya A, Dai H, Smith JD, Shendure J, Bamshad MJ, Nickerson DA, Santos-Cortez RL, Ahmad W, Leal SM "A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair.." ; Pubmed PMID: 26160856
- Ansar M1, Lee K, Naqvi SK, Andrade PB, Basit S, Santos-Cortez RL, Ahmad W, Leal SM. "A new autosomal recessive nonsyndromic hearing impairment locus DFNB96 on chromosome 1p36.31-p36.13." J Hum Genet. 2011 Dec;56(12):866-8. Pubmed PMID: 21937999
- Lee K1, Khan S, Ansar M, Santos-Cortez RL, Ahmad W, Leal SM "A Novel ESRRB Deletion Is a Rare Cause of Autosomal Recessive Nonsyndromic Hearing Impairment among Pakistani Families." Genet Res Int. 2011 Sep; Pubmed PMID: 22567352
- Arnett J1, Emery SB, Kim TB, Boerst AK, Lee K, Leal SM, Lesperance MM "Autosomal dominant progressive sensorineural hearing loss due to a novel mutation in the KCNQ4 gene." Arch Otolaryngol Head Neck Surg.. 2011 Jan;137(1):54-9. Pubmed PMID: 21242547
- Lee K1, Amin Ud Din M, Ansar M, Santos-Cortez RL, Ahmad W, Leal SM "Autosomal Recessive Nonsyndromic Hearing Impairment due to a Novel Deletion in the RDX Gene." Genet Res Int. 2011 Nov;2011(294675) Pubmed PMID: 22567349
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