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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.
John H. Greinwald Jr., MD, FAAP
Professor, UC Department of Pediatrics
UC Department of Otolaryngology – Head and Neck Surgery
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.
C. Alexander Valencia, PhD Assistant Director, Molecular Genetics Laboratory 513-803-9033 firstname.lastname@example.org
Assistant Director, Molecular Genetics Laboratory
Assistant Professor, UC Department of Pediatrics
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 513-636-0121 email@example.com
Director, Molecular Genetics Laboratory
Associate Professor, UC Department of Pediatrics
Molecular genetics diagnosis of inherited immunodeficiency disorders and other genetic conditions
MD: Tianjin Medical University, Tianjin, China, 1993.
MBA: College of Business Administration, University of Cincinnati, Cincinnati, OH, 2001.
Residency: Gong'an Hospital, Tianjin, China, 1993-1995.
Fellowship: Clinical Molecular Genetics Fellow, Division of Human Genetics, Cincinnati Children's Hospital Medical Center, 2002-2004.
Lo B, Zhang K, Lu W, Zheng L, Zhang Q, Kanellopoulou C, Zhang Y, Liu Z, Fritz JM, Marsh R, Husami A, Kissell D, Nortman S, Chaturvedi V, Haines H, Young LR, Mo J, Filipovich AH, Bleesing JJ, Mustillo P, Stephens M, Rueda CM, Chougnet CA, Hoebe K, McElwee J, Hughes JD, Karakoc-Aydiner E, Matthews HF, Price S, Su HC, Rao VK, Lenardo MJ, Jordan MB. AUTOIMMUNE DISEASE. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy. Science. 2015;349:436-440.
Lindsley AW, Qian Y, Valencia CA, Shah K, Zhang K, Assa’ad A. Combined Immune Deficiency in a Patient with a Novel NFKB2 Mutation. J Clin Immunol. 2014 Nov;34(8):910-5.
Valencia CA, Indugula SR, Mathur A, Wei C, Brown J, Dell S, Cole I, Connor J, Zhang K. Misleading results from saliva samples of post bone marrow transplanted patients in exome analyses. Published Blood. 2014 Jul 24;124(4):660-1.
Zhang K, Chadrakasan S, Chapman H, Valencia CA, Husami A, Kissell D, Johnson JA, Filipovich AH. Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosis. Blood. 2014 Aug 21;124(8):1331-4.
Qian Y, Johnson J, Connor J, Valencia CA, Barasa N, Schubert J, Husami A, Kissell D, Zhang G, Weirauch M, Filipovich A, Zhang K. The 253-kb inversion and deep intronic mutations in UNC13D are present in North American patients with familial hemophagocytic lymphohistiocytosis 3. Pediatric Blood Cancer. 2014;61:1034–1040.
Theru Arumugam S, Husami A, Kissell D, Zhang W, Keddache M, Black AP, Tinkle BT, Greinwald JH, Zhang K. Performance Evaluation of the Next-Generation Sequencing Approach for Molecular Diagnosis of Hereditary Hearing Loss. Otolaryngol Head Neck Surg. 2013 Jun;148(6):1007-16.
Zhang K, Jordan MB, Marsh RA, Johnson JA, Kissell D, Meller J, Villanueva J, Risma KA, Wei Q, Klein PS, et al. Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH. Blood. 2011;118:5794-5798
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;55:134-140.
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;58:2892-2896.
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;34:231-233.
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