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.

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

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

BS: Wofford College, Spartanburg, SC, 1983.

MD: Medical University of South Carolina, Charleston, SC, 1987.

Internship: Naval Medical Center, Portsmouth, VA, 1988.

Residency: Naval Medical Center, Portsmouth, VA, 1995.

Fellowship: Pediatric Otolaryngology, University of Iowa, Iowa City, IA, 1998.

Sun GH, Harmych BM, Dickson JM, Gonzalez Del Rey JA, Myer CM 3rd, Greinwald JH Jr. Characteristics of children diagnosed as having coagulopathies following posttonsillectomy bleeding. Arch Otolaryngol Head Neck Surg. 2011 Jan;137(1):65-8.

Johnson RF, Cohen AP, Guo Y, Schibler K, Greinwald JH. Genetic mutations and aminoglycoside-induced ototoxicity in neonates. Otolaryngol Head Neck Surg. 2010 May;142(5):704-7.

Hopkins BS, Johnson KE, Ksiazek JM, Sun G, Greinwald JH, Rutter M. H1N1 influenza A presenting as bacterial tracheitis. Otolaryngol Head Neck Surg. 2010 Apr;142(4):612-4.

Kothiyal P, Cox S, Ebert J, Husami A, Kenna MA, Greinwald JH, Aronow BJ, Rehm HL. High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays. BMC Biotechnol. 2010 Feb 10;10:10.

Propst EJ, Greinwald JH, Schmithorst V. Neuroanatomic differences in children with unilateral sensorineural hearing loss detected using functional magnetic resonance imaging. Arch Otolaryngol Head Neck Surg. 2010 Jan;136(1):22-6.

Kothiyal P, Cox S, Ebert J, Aronow BJ, Greinwald JH, Rehm HL. An overview of custom array sequencing. Curr Protoc Hum Genet. 2009 Apr;Chapter 7:Unit 7.17.

Lee KH, Larson DA, Shott G, Rasmussen B, Cohen AP, Benton C, Halsted M, Choo D, Meinzen-Derr J, Greinwald JH Jr. Audiologic and temporal bone imaging findings in patients with sensorineural hearing loss and GJB2 mutations. Laryngoscope. 2009 Mar;119(3):554-8.

Greinwald J Jr, Cohen AP, Hemanackah S, Azizkhan RG. Massive lymphatic malformations of the head, neck, and chest. J Otolaryngol Head Neck Surg. 2008 Apr;37(2):169-73.

Schraff SA, Schleiss MR, Brown DK, Meinzen-Derr J, Choi KY, Greinwald JH, Choo DI. Macrophage inflammatory proteins in cytomegalovirus-related inner ear injury. Otolaryngol Head Neck Surg. 2007 Oct;137(4):612-8.

Vijayasekaran S, Halsted MJ, Boston M, Meinzen-Derr J, Bardo DM, Greinwald J, Benton C. When is the vestibular aqueduct enlarged? A statistical analysis of the normative distribution of vestibular aqueduct size. AJNR Am J Neuroradiol. 2007 Jun-Jul;28(6):1133-8.

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

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.

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.

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.