Clinical Interests

Molecular genetics diagnosis of inherited immunodeficiency disorders and other genetic conditions

Research Interests

Molecular defects and molecular diagnosis of primary immunodeficiency diseases; Genetic aspects of predictive personalized medicine (pharmacogenetics)

MD: Tianjin Medical University, Tianjin, China, 1993

MBA: University of Cincinnati, College of Business Administration, 2001

Residency: Gong'an Hospital, Tianjin, China, 1993-1995

Fellowship: Clinical Molecular Genetics Fellow, Division of Human Genetics, Cincinnati Children's Hospital, 2002-2004

Zhang K, Jordan MB, Klein P, Villanueva J, Risma K, Filipovic AH. .Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial hemophagocytic lymphohistiocytosis. Blood. 2011 August 31.

Filipovich AH, Zhang K, Snow AL, Marsh RA. X-linked lymphoproliferative syndromes: brothers or distant cousins? Blood. 2010 Nov 4;116(18):3398-408.

Marsh RA, Madden L, Kitchen BJ, Mody R, McClimon B, Jordan MB, Bleesing JJ, Zhang K, Filipovich AH. XIAP deficiency: a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease. Blood. 2010 Aug 19;116(7):1079-82. 

Marsh RA, Satake N, Biroschak J, Jacobs T, Johnson J, Jordan MB, Bleesing JJ, Filipovich AH, Zhang K. STX11 mutations and clinical phenotypes of familial hemophagocytic lymphohistiocytosis in North America. Pediatr Blood Cancer. 2010 Jul 15;55(1):134-40.

Pestian J, Spencer M, Matykiewicz P, Zhang K, Vinks AA, Glauser T. Personalizing Drug Selection Using Advanced Clinical Decision Support. Biomed Inform Insights. 2009 Jun 23;2:19-29.

Prows CA, Nick TG, Saldaña SN, Pathak S, Liu C, Zhang K, Daniels ZS, Vinks AA, Glauser TA. Drug-metabolizing enzyme genotypes and aggressive behavior treatment response in hospitalized pediatric psychiatric patients. J Child Adolesc Psychopharmacol. 2009 Aug;19(4):385-94.

Marsh RA, Villanueva J, Kim MO, Zhang K, Marmer D, Risma KA, Jordan MB, Bleesing JJ, Filipovich AH. Patients with X-linked lymphoproliferative disease due to BIRC4 mutation have normal invariant natural killer T-cell populations. Clin Immunol. 2009 Jul;132(1):116-23.

Marsh RA, Villanueva J, Zhang K, Snow AL, Su HC, Madden L, Mody R, Kitchen B, Marmer D, Jordan MB, Risma KA, Filipovich AH, Bleesing JJ. A rapid flow cytometric screening test for X-linked lymphoproliferative disease due to XIAP deficiency. Cytometry B Clin Cytom. 2009 Sep;76(5):334-44.

Prausa SE, Fukuda T, Maseck D, Curtsinger KL, Liu C, Zhang K, Nick TG, Sherbotie JR, Ellis EN, Goebel J, Vinks AA. UGT genotype may contribute to adverse events following medication with mycophenolate mofetil in pediatric kidney transplant recipients. Clin Pharmacol Ther. 2009 May;85(5):495-500.

Zhang K, Biroschak J, Glass DN, Thompson SD, Finkel T, Passo MH, Binstadt BA, Filipovich A, Grom AA. Macrophage activation syndrome in patients with systemic juvenile idiopathic arthritis is associated with MUNC13-4 polymorphisms. Arthritis Rheum. 2008 Sep;58(9):2892-6.

Human genetics; mitochondrial diseases.

Visit the Huang Lab.

PhD: Biomedical Science, Mount Sinai Medical School, New York, 1991.         

MS: Biochemistry, The Third Military Medical College, Chongqing, China, 1986.

MD: (Passed US Medical Board Exam step I, Step II and Step III), Fujian Medical College, Fuzhou, Fujian, China, 1983.

Research Fellowship: Seidman Laboratory, Howard Hughes Medical Institute, Harvard Medical School, Boston, Massachusetts, Dec 1997 - Jul 1999.

Clinical Fellowship: Clinical Genetics and Clinical Molecular Genetics, Children’s Hospital, Harvard Medical School, Boston, Massachusetts, Jul 1996 - Jul 1999.

Residency: Pediatrics, Georgetown University Medical School, Children’s Medical Center, Washington, DC, Jul 1993- Jul 1996.

Postdoctoral Fellowship: Jerome H. Holland Laboratory, American Red Cross, Rockville, Maryland, Dec 1991 - Jul 1993.

Taosheng Huang. The Molecular Mechanisms of OPA1-Mediated Optic Atrophy in Drosophila Model and Prospects for Antioxidant Treatment. PLoS Genetics. 2008 Jan;4(1):e6.

Will Yarosh*, Tomasa Barrientos*, Taraneh Esmailpour, Limin Lin, Philip M. Carpenter, Kathryn Osann, Hoda Anton-Culver, Taosheng Huang. TBX3 is overexpressed in breast cancer and represses p14ARF by interacting with HDACs. Cancer Research. 2008;68:693-699  *These authors contribute equally

Sha Tang, Stephanie Tse, Phung Khanh Le, Kimberly Nguyen, Douglas C. Wallace, Taosheng Huang. Heterozygous Mutation of Opa1 in Drosophila Shorten Lifespan Mediated through Increased Reactive Oxygen Species Production. PLoS One, 4(2):e4492.

Parvin Shojaeian, Hung-Tat Leung, Karen Ocorr, Rolf Bodmer, William L. Pak, Stephanie Tse, Phung Khanh Le, Kimberly Nguyen, Taosheng Huang. Heterozygous mutation of Drosophila Opa1 causes the development of multiple organ abnormalities in an age-dependent and organ-specific manner. PLoS One. 2009;4(8):e6867.

Taosheng Huang, Rosamaria Santarelli, Arnold Starr. Cochlear potentials accompanying R445H mutation of OPA1 gene in patients with both optic and auditory neuropathies. Brain Research. 2009;1300:97-104

Jing Liu, Taraneh Esmailpour, Xiying Shang, Gultekin Gulsen, Andy Liu, Taosheng Huang. TBX3 overexpression in an inducible transgenic mouse model causes hyperplasia of the mammary glands and increased mammary stem cells. BMC Dev Biol. 2011;11:65.

Fuyun Ji, Mark S. Sharpley, Olga Derbenev, Leonardo Scherer Alves,  Pin Qian, Yaoli Wang,Dimitra Chalkiab, Maria Lvov, Jiancheng Xu, Wei Yao, Mariella Simon, Julia Platt, Shiqin Xu, Alessia Angelinb, Antonio Davil, Taosheng Huang, Ping H. Wang, Lee-Ming Chuang, Lorna G. Moore, Guisheng Qian, Douglas C. Wallace. Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans. PNAS. 2012;109(19):7391-6

Chengkang Zhang, Vincent H. Huang, Mariella Simon, Lokendra K. Sharma, Weiwei Fan, Richard Haas, Douglas C. Wallace, Yidong Bai, Taosheng Huang. Heteroplasmic Mutations of the Mitochondrial Genome Cause Paradox Effects on Mitochondrial Functions. FASEB Journal. 2012.

Taraneh Esmailpour, Taosheng Huang. TBX3 promotes human embryonic stem cell proliferation and neuroectoderm differentiation in a differentiation stage-dependent manner. Stem Cell. 2012.

Ophthalmic genetics

MSc: Andhra University, India.

PhD: All India Institute of Medical Sciences, New Delhi, India.

Fellowship: Harvard Medical School.

Certification: Clinical Molecular Genetics, 2007.

Kopplin LJ, Igo RP Jr, Wang Y, Sivakumaran TA, Hagstrom SA, Peachey NS, Francis PJ, Klein ML, SanGiovanni JP, Chew EY, Pauer GJ, Sturgill GM, Joshi T, Tian L, Xi Q, Henning AK, Lee KE, Klein R, Klein BE, Iyengar SK. Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration. Genes Immun. 2010 Dec;11(8):609-21.

Ikram MK, Sim X, Jensen RA, Cotch MF, Hewitt AW, Ikram MA, Wang JJ, Klein R, Klein BE, Breteler MM, Cheung N, Liew G, Mitchell P, Uitterlinden AG, Rivadeneira F, Hofman A, de Jong PT, van Duijn CM, Kao L, Cheng CY, Smith AV, Glazer NL, Lumley T, McKnight B, Psaty BM, Jonasson F, Eiriksdottir G, Aspelund T; Global BPgen Consortium, Harris TB, Launer LJ, Taylor KD, Li X, Iyengar SK, Xi Q, Sivakumaran TA, Mackey DA, Macgregor S, Martin NG, Young TL, Bis JC, Wiggins KL, Heckbert SR, Hammond CJ, Andrew T, Fahy S, Attia J, Holliday EG, Scott RJ, Islam FM, Rotter JI, McAuley AK, Boerwinkle E, Tai ES, Gudnason V, Siscovick DS, Vingerling JR, Wong TY. Genetic determinants for retinal microcirculation: Genome-wide association study from the CHARGE consortium. PLoS Genet. 2010 Oct 28;6(10):e1001184.

SanGiovanni JP, Arking DE, Iyengar SK, Elashoff M, Clemons TE, Reed GF, Henning AK, Sivakumaran TA, Xu X, DeWan A, Agrón E, Rochtchina E, Sue CM, Wang JJ, Mitchell P, Hoh J, Francis PJ, Klein ML, Chew EY, Chakravarti A. Mitochondrial DNA variants of respiratory complex I that uniquely characterize haplogroup T2 are associated with increased risk of age-related macular degeneration. PLoS One. 2009;4(5):e5508.

Wang JJ, Rochtchina E, Smith W, Klein R, Klein BE, Joshi T, Sivakumaran TA, Iyengar S, Mitchell P. Combined effects of complement factor H genotypes, fish consumption, and inflammatory markers on long-term risk for age-related macular degeneration in a cohort. Am J Epidemiol. 2009 Mar 1;169(5):633-41.

Robertson NG, Jones SM, Sivakumaran TA, Giersch AB, Jurado SA, Call LM, Miller CE, Maison SF, Liberman MC, Morton CC. A targeted Coch missense mutation: a knock-in mouse model for DFNA9 late-onset hearing loss and vestibular dysfunction. Hum Mol Genet. 2008 Nov 1;17(21):3426-34.

Ruel J, Emery S, Nouvian R, Bersot T, Amilhon B, Van Rybroek JM, Rebillard G, Lenoir M, Eybalin M, Delprat B, Sivakumaran TA, Giros B, El Mestikawy S, Moser T, Smith RJ, Lesperance MM, Puel JL. Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice. Am J Hum Genet. 2008 Aug;83(2):278-92.

Edwards AO, Chen D, Fridley BL, James KM, Wu Y, Abecasis G, Swaroop A, Othman M, Branham K, Iyengar SK, Sivakumaran TA, Klein R, Klein BE, Tosakulwong N. Toll-like receptor polymorphisms and age-related macular degeneration. Invest Ophthalmol Vis Sci. 2008 Apr;49(4):1652-9.

Xing C, Sivakumaran TA, Wang JJ, Rochtchina E, Joshi T, Smith W, Mitchell P, Iyengar SK. Complement factor H polymorphisms, renal phenotypes and age-related macular degeneration: the Blue Mountains Eye Study. Genes Immun. 2008 Apr;9(3):231-9.

Sivakumaran TA, Resendes BL, Robertson NG, Giersch AB, Morton CC. Characterization of an abundant COL9A1 transcript in the cochlea with a novel 3' UTR: Expression studies and detection of miRNA target sequence. J Assoc Res Otolaryngol. 2006 Jun;7(2):160-72.

Sivakumaran TA, Shen P, Wall DP, Do BH, Kucheria K, Oefner PJ. Conservation of the RB1 gene in human and primates. Hum Mutat. 2005 Apr;25(4):396-409.

PhD: University of California, Davis.

Fellowship: Genetics, National Institutes of Health/National Human Genome Research Institute, Bethesda, MD.

Certification: Clinical Molecular Genetics, 2011.

Hogart A, Lichtenberg J, Ajay SS, Anderson SM, NIH Intramural Sequencing Center, Margulies EH, Bodine DM. Genome-Wide DNA Methylation Profiles in Hematopoietic Stem and Progenitor Cells Reveal Over-Representation of ETS Transcription Factor Binding Sites. Genome Res. 2012.

Hogart A, Wu DJ, LaSalle JM, Schanen NC. The comorbidity of autism with the genomic disorders of chromosome 15q11.2-13. NeurobiolDisease. 2010;38(2):181-191.

Hogart A, Leung KN, Wang NJ, Wu DJ, Driscoll J, Vallero RO, Schanen NC, LaSalle JM. Chromosome 15q11-13 duplication syndrome brain reveals epigenetic alterations in gene expression not predicted from copy number. J Med Genet. 2009;46(2)86-93.

Hogart A, LaSalle JM. Epigenetic dysregulation of 15q11-13 GABAA receptors in autism. The Neurochemical Basis of Autism: Molecules to Minicolumns. Springer. 2009.

Hogart A, Patzel KA, LaSalle JM. Gender influences monoallelic expression of ATP10A in human brain. Hum Genet. 2008;124(3)235-42.

Yasui DH, Peddada S, Bieda MC, Vallero RO, Hogart A, Nagarajan RP, Thatcher KN, Farnham PJ, LaSalle JM. Integrated epigenomic analyses of neuronal MeCP2 reveal a role for long-range interaction with active genes. PNAS. 2007;104(49):19416-21.

Hogart A, Nagarajan RP, Patzel KA, Yasui DH, LaSalle JM. 15q11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders. Hum Mol Genet. 2007;16(6):691-703.

Nagarajan RP, Hogart A, Gwye Y, Martin MR, LaSalle JM. Reduced MeCP2 Expression is Frequent in Autism Frontal Cortex and Correlates with Aberrant MECP2 Promoter Methylation. Epigenetics. 2006;1(4):172-182.

LaSalle JM, Hogart A, Thatcher KN. Rett Syndrome: A Rosetta Stone Approach to Understanding Autism. Int Rev Neurobiol. 2005;71:131-165.

Samaco RC, Hogart A, LaSalle JM. Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3. Hum Mol Genet. 2005;14(4):483-92.

Proteomics, apoptosis, degradomics, protein-protein interactions, genomics, clinical molecular genetics, genetic testing, molecular diagnostics, next-generation sequencing  

PhD: Ottawa-Carleton Institute of Biology, Carleton University, Ottawa, ON, 2004.

Postdoctoral Research Fellowship: Carolina Center for Genome Sciences and Eshelman School of Pharmacy, University of North Carolina at Chapel Hill, NC, 2009.

Clinical Fellowship: Clinical Molecular Genetics, Department of Human Genetics, Emory University School of Medicine, GA, 2012.

Valencia CA, Rhodenizer D, Bhide S, Chin E, Littlejohn MR, Keong LM, Rutkowski A, Bonnemann C, Hegde M. Assessment of target enrichment platforms using massively parallel sequencing for the mutation detection for congenital muscular dystrophy. J Mol Diagn. 2012;14:233-246.

Cotten SW, Zou J, Valencia CA, Liu R. Selection of proteins with desired properties from natural proteome libraries using mRNA display. Nature Protocols. 2011;6:1163–1182.

Simnick AJ, Valencia CA, Liu R, Chilkoti A. Morphing low-affinity ligands into high-avidity nanoparticles by thermally triggered self-assembly of a genetically encoded polymer. ACS Nano. 2010;4:2217-2227.

Valencia CA, Cotten SW, Dong B, Liu R. mRNA-display-based selections for proteins with desired functions: a protease-substrate case study. Biotechnol. Prog. 2008;24:561-569.

Valencia CA, Cotten SW, Ju W, Duan J, Liu R. Modulation of Nucleobindin-1 and -2 by caspases. FEBS Lett. 2008;582:286–290.

Ju W, Valencia CA, Pang H, Ke Y, Gao W, Liu R. Proteome-wide identification of member-specific natural substrate repertoire of caspases. Proc Natl Acad Sci USA. 2007;104:14294–14299.     

Dong B, Valencia CA, Liu R. Ca2+/Calmodulin directly interacts with the Pleckstrin Homology Domain of AKT1. J Biol Chem. 2007;282:25131-25140.       

Valencia CA, Bailey C, Liu R. Novel Zebrafish caspase 3 substrates. Biochem Biophys Res Commun. 2007;361:311-316.

Shen X, Valencia CA, Szostak J, Dong B, Liu R. Scanning the human proteome for calmodulin-binding proteins. Proc Natl Acad Sci USA. 2005;102:5969-5974.

Taboada EN, Acedillo RR, Carrillo CD, Findlay WA, Medeiros DT, Mykytczuk OL, Roberts MJ, Valencia CA, Farber JM, Nash JH. Large-scale comparative genomics meta-analysis of Campylobacter jejuni isolates reveals low level of genome plasticity. J Clin Microbiol. 2004;42:4566-4576.

BS: Genetics, University of Wisconsin Madison, Madison, WI, 2009

MS: Genetic Counseling, University of Cincinnati, Cincinnati, OH, 2011

Barriers to genetic counseling;  innovative methods of providing complex genetic information to patients and physicians

MS: Medical Genetics, Indiana University, Indianapolis, IN, 1985.

MS: Clinical Behavioral Psychology, Eastern Michigan University, Ypsilanti, MI, 1995.

Certification: Genetic Counseling, 1987; Project Management, 2010

Zhang K, Jordan MB, Marsh RA, Johnson JA, Kissell D, Meller J, Villanueva J, Risma KA, Wei Q, Klein PS, Filipovich AH. Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial hemophagocytic lymphohistiocytosis. Blood. 2011 Aug 31.

Bleesing JJH,  Johnson J, Zhang K. Autoimmune Lymphoproliferative Syndrome. GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle, 1997-2010.

Filipovich AH, Johnson J, Zhang K. WAS-Related Disorders. GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle, 1997-2010.

Marsh RA, Satake N, Biroschak J, Jacobs T, Johnson J, Jordan MB, Bleesing JJ, Filipovich AH, Zhang K STX11 mutations and clinical phenotypes of familial hemophagocytic lymphohistiocytosis in North America.  Pediatr Blood Cancer. 2010. 55(1):134-40.

Zhang K, Filipovich AH, Johnson J, Marsh RA, Villanueva J.  Hemophagocytic Lymphohistiocytosis, Familial. GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle, 1997-2011.

Johnson J, Filipovich AH, Zhang K.  X-Linked Hyper IgM Syndrome. GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle, 1997-2011.

Sumegi J, Johnson J, Filipovich A, Zhang K, Marsh R.  Lymphoproliferative Disease, X-Linked. GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle, 1997-2011. 

Zhang K, Johnson JA, Biroschak J, Villanueva J, Lee SM, Bleesing JJ, Risma KA, Wenstrup RJ, Filipovich AH.  Familial haemophagocytic lymphohistiocytosis in patients who are heterozygous for the A91V perforin variation is often associated with other genetic defects.  Int J Immunogenet. 2007 Aug;34(4):231-3