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The partnership between the Molecular Genetics Laboratory and the Ear and Hearing Center at Cincinnati Children's Hospital Medical Center allows for optimum care of your patients.
We are staffed by a team of experts who provide guidance in:
Clinical interpretations are written in conjunction with our nationally recognized pediatric otolaryngologist, board certified molecular and medical geneticists and genetic counselor. Each report is customized for your patient and includes a detailed interpretation of the genetic findings, the clinical significance of the results and specific recommendations for clinical management and additional testing, if warranted. These specialists are available to you for pre- or post-test consultation.
Amber Hogart Begtrup, PhD Assistant Director, Molecular Genetics Laboratory
Assistant Director, Molecular Genetics Laboratory
Assistant Professor, UC Department of Pediatrics
Amber Hogart Begtrup received her PhD in genetics with a focus in human genetics from the University of California, Davis in 2003. During her PhD she conducted research to identify underlying molecular etiologies of autism through molecular genetic investigation of human chromosome 15q11-13. In 2003, Dr. Begtrup transitioned to the National Institutes of Health, where she simultaneously performed post-doctoral research in the realm of epigenomics and hematopoietic development and trained in clinical molecular genetics.
While at the NIH, Dr. Begtrup was funded through the Pharmacology Research Associate Training Program sponsored by the National Institute of General Medical Sciences. During her training, Dr. Begtrup developed interests in bone marrow failure disorders as well as the application of next generation sequencing technologies to clinical genetics.
PhD: University of California, Davis.
Fellowship: Genetics, National Institutes of Health/National Human Genome Research Institute, Bethesda, MD.
Certification: Clinical Molecular Genetics, 2011.
Jessica A. Connor, MS
BS: Genetics, University of Wisconsin Madison, Madison, WI, 2009
MS: Genetic Counseling, University of Cincinnati, Cincinnati, OH, 2011
John H. Greinwald Jr., MD, FAAP
Professor, UC Department of Pediatrics
UC Department of Otolaryngology – Head and Neck Surgery
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.
Jennifer R. Holle, LGC Genetic Counselor, Division of Human Genetics
Judith A. Johnson, MS, CPM Project Manager
Barriers to genetic counseling; innovative methods of providing complex genetic information to patients and physicians
Judith Johnson, MS, is a board-certified genetic counselor with extensive experience in many areas of medical genetics. Judith is currently co-investigator in several research projects. Judith is also a certified Project Manager.
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
Sivakumaran Theru-Arumugam, PhD Associate Director, Molecular Genetics Laboratory
Associate Director, Molecular Genetics Laboratory
MSc: Andhra University, India.
PhD: All India Institute of Medical Sciences, New Delhi, India.
Fellowship: Harvard Medical School.
Certification: Clinical Molecular Genetics, 2007.
C. Alexander Valencia, PhD Assistant Director, Molecular Genetics Laboratory
Proteomics, apoptosis, degradomics, protein-protein interactions, genomics, clinical molecular genetics, genetic testing, molecular diagnostics, next-generation sequencing
C. Alexander Valencia, PhD, is a biochemist and clinical molecular geneticist who has basic and translational research programs in genomics and proteomics. His laboratory studies the biochemical mechanisms of apoptosis through a novel proteomic method called mRNA-display. Moreover, his translational research program, in the area of clinical molecular genetics, addresses the implementation of new molecular diagnostic platforms, including next-generation sequencing, in clinical genetic testing.
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.
Kejian Zhang, MD, MBA Director, Molecular Genetics Laboratory
Director, Molecular Genetics Laboratory
Associate Professor, UC Department of Pediatrics
Molecular genetics diagnosis of inherited immunodeficiency disorders and other genetic conditions
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.
Macrophage Activation Syndrome Biomarkers in Systemic Juvenile Idiopathic Arthritis. Co-investigator. National Institute of Arthritis, Musculoskeletal and Skin Diseases. Aug 2007 - Dec 2012.
MUNC13-4 gene Polymorphisms in Macrophage Activation syndrome and Systemic Juvenile Idiopathic Arthritis. Co-Investigator. National Institute of Health. Sept 2011 - Aug 2016.
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