Human Genetics

Division Details

Division Data Summary

Research and Training Details

Number of Faculty31
Number of Joint Appointment Faculty6
Number of Research Fellows2
Number of Support Personnel199
Direct Annual Grant Support$2,738,519
Direct Annual Industry Support$357,610
Peer Reviewed Publications93

Clinical Activities and Training

Number of Clinical Staff30
Number of Clinical Fellows4
Number of Clinical Students25
Number of Other Students13
Inpatient Encounters500
Outpatient Encounters5442

Division Photo

Human Genetcis group photo

Row 1: K Zhang, N Leslie, X Li, G Grabowski

Row 2: A Burrow, M Myers, C Atzinger, A Valencia, R Hopkin

Row 3: E Schorry, W Nichols, T Smolarek, S Zimmerman, C Prows, S Theru Arumugam, G Zhang

Row 4: M Pandey, I Sageser, D Prows, R Stottmann, S Oh, D Neilson, R Li

Significant Accomplishments

Significant Accomplishments

Advance in Genomic Analyses

Lisa Martin, PhD, Co-Director of the Cincinnati Genomic Control Cohort, recently published a methods paper entitled “Variant Impact on Linkage Effect Test.” This paper is a major contribution to the field because it identifies a method for overcoming a critical mismatch in the way linkage results are followed up. Given that linkage and association are expected to overlap only in Mendelian conditions, using such an approach for complex traits may impede our ability to detect disease causing variants.

Progress in Pulmonary Hypertension

William Nichols, PhD, has established the NHLBI-funded National Biological Sample and Data Repository for Pulmonary Arterial Hypertension. Since receiving its first samples in October 2012, biological samples have been collected from more than 600 patients from 24 enrollment centers across the US with a five-year goal of building the cohort to 3,000 patients. Biological samples, clinical data, and genetic data on WHO Group 1 PAH patients will be distributed to researchers worldwide to enhance genetic and other studies of this devastating disease.

Genetics Counseling Program Earns High Rating

The Genetic Counseling Graduate Program (GCP) received an A rating of excellence from the UC Graduate School Review. Reviewers said the program has "achieved national reputation and might be expected to develop as a center of excellence." The GCP also was reaccredited this year by the Accreditation Council for Genetic Counseling for the maximum amount of eight years. Melanie Myers, PhD, Director, and Carrie Atzinger, MS, CGC, Associate Director, also successfully transitioned the program from quarters to semesters. Close monitoring and frequent meetings with advisors resulted in students meeting academic requirements and finishing research projects on time, despite six weeks less time than previous classes.

Research Highlights

Carrie Atzinger, MS, CGC

Ms. Atzinger was elected to a two year term as Director at Large for the Board of Directors of the National Society of Genetic Counselors.

Liming Bao, MD, PhD

Dr. Bao played an instrumental role in developing the joint international college of medicine between University of Cincinnati College of Medicine and Chongqing Medical University in China. This will be the first such international collaborative program between China and US. The success of the program will significantly elevate UC/Cincinnati Children’s standing in global medical education and facilitate clinical and research collaboration between two institutes.

Thomas Burrow, MD

Dr. Burrow has successfully initiated an industry funded trial evaluating the safety and efficacy of enzyme replacement therapy with recombinant human lysosomal acid lipase in individuals with cholesterol ester storage disease. This provides potential for a new specific therapy for these individuals.

Gregory A. Grabowski, MD, You-Hai Xu, MD, PhD, Ying Sun, PhD

Research efforts were concentrated in three areas: 1) The elucidation of the CNS pathogenesis of the α-synuclein and amyloid protein accumulation in Gaucher disease mouse brains. These studies indicate the disruption of the lysosome/autophagy/mitophagy system leading to complex abnormalities that predispose to Parkinson-like manifestations in Gaucher disease. 2) Comparative whole genome RNA-Seq analyses of the major organs in Gaucher disease before and following enzyme therapy. These analyses show that two highly similar biopharmaceuticals (differ only in oligosaccharide termination) have very different transcriptomic effects and lead to differential correction of the molecular pathology of this disease. 3) Development of neuroprogenitor and differentiated neurons as well as hepatocyte precursors from iPSCs derived from human and mouse fibroblasts. These cells are being used as potential therapeutics as well as for “disease in a dish” analyses for the glycosphingolipid storage diseases and lysosomal acid lipase deficiency, as prototypes.

Amber Hogart-Begtrup, PhD

Dr. Begtrup has spent her first year in the Molecular Genetics Laboratory engaging in the daily operations of the laboratory and laying the groundwork for future collaborations and research. Specifically, together with Dr. Kalfa of the Cancer and Blood Diseases Institute Dr. Hogart is developing comprehensive genetic testing for disorders of the red blood cell; the first in the country to offer functional characterization and comprehensive molecular genetic diagnostics to improve the care of children with RBC disorders. Also, Dr. Hogart together with Anne Lucky, MD and the Epidermolysis Bullosa (EB) Center are developing a rapid, comprehensive, genetic tests, for the diagnosis of this devastating skin disorder. In addition to improving clinical care by expediting a diagnosis, this program will expand our knowledge of the molecular basis of this disease, and ultimately lead to better therapeutic opportunities.

Taosheng Huang, MD, PhD

Dr. Huang has initiated the program of Mitochondrial Medicine at Cincinnati Children’s. The program integrates basic/translational research, genetic testing, and clinical service for mitochondrial diseases. He is an internationally recognize researcher, and he was appointed as a scientific advisor for Ministry and Health in China.

Mehdi Keddache, PhD

Dr. Keddache developed a nationally available webinar for the U01 “Pluripotent Cell Biology Consortium” funded by the NIH. This educational webinar focused on the genomic technologies at the Cincinnati Cell Characterization Core (C4). Through collaborative projects with the US-EPA, Dr. Keddache developed and implemented new technologies in the Genetic Variation and Gene Discovery facility of the DHG in the fields of metagenomics and bioinformatics.

Nancy Leslie, MD

Dr. Leslie completed a two year collaborative project sponsored by HRSA to create uniform case definitions for all inborn errors included in the Newborn Screening Uniform Panel. This resource will be provided to state newborn screening programs to aid in classification of identified cases, promote future outcomes research, and assure that incidence rates reflect standardized assignments of affected status. A major hurdle to appropriate classification in some states is lack of funding for molecular diagnostic testing. It is hope that this tool will help states advocate for coverage of essential diagnostic testing for these disorders.

Ronghua Li, PhD

Dr. Li began his independent research career to study human mitochondrial diseases using cell-specific models by developing specific transmitochondrial cybrids to study pathogenesis of maternally transmitted hypertension. His general research is focused on using iPSCs to study tissue specific effects of mitochondrial diseases.

Derek Neilson, MD

Dr. Neilson assumed leadership in developing the greatly expanding Ehlers-Danlos clinic and research program at Cincinnati Children’s. This nationally recognized center is among the few in the nation to provide comprehensive approaches to Ehlers-Danlos syndrome.

Sunghee Oh, PhD

Dr. Oh developed a statistical approach to the analyses of differential expression using RNA-seq profile data. These approaches are being applied to the identification of differential expression of alternative splicing variability, cell cyclic regulation and stimuli-response data, and time course analyses. These methodological accomplishments will significantly contribute to analyzing various types of time-dependent data including, disease progression, age-related gene expression, and integrative analysis with chip-seq and methylation epigenetic factors omics data.

Manoj Pandey, PhD

Dr. Pandey recognized C5a mediated signaling as a positive regulator for immunological inflammation in Gaucher disease mice. This finding may provide an approach to control the inflammatory propagation of Gaucher brain diseases.

Cindy Prows, MSN, CNS

Ms. Prows’ research is aimed at measuring responses (parents and clinicians) to integration of genomic research results into the health care system. Toward this aim, she provides leadership as co-PI on three different studies: DHG Performance of Exome Sequencing with Greg Grabowski, MD; Return of eMERGE Research Results with John Harley, MD (Rheumatology); and Pre-emptive Genotyping of Children and Adolescents with Senthil Sadhasivam, MD (Anesthesia). These data collection phases for the first two projects are ongoing and updates are initiated for Genetic Pharmacology Service test offerings and associated EPIC alerts.

Ms. Prows was an Editorial Advisory Board member and invited author for a Special Genomic Nursing Clinical Issue published the first quarter of 2013 by the Journal of Nursing Scholarship. In conjunction with the special issue, a webinar series was produced in which authors presented additional content and answered questions from a national online audience. Links to the published articles and webinar series can be found on genome.gov. This effort is part of an ongoing national initiative to integrate genetics / genomics into nursing education and practice.

Daniel Prows, PhD

Dr. Prows has successfully propagated a newly discovered mutant mouse that develops severe cardiac fibrosis and right ventricular dilated cardiomyopathy (DCM), with affected mice dying prematurely of heart failure and/or sudden cardiac arrest. Results from exome sequencing of mutants with heart failure combined with ratios of affected-to-unaffected offspring suggest that 2-3 genetic variants interact to produce the DCM and heart failure. Because most cardiomyopathies have only been associated with single gene variants, this mutant may represent a unique multigenic model of DCM with potential to identify and investigate an important gene-gene interaction causal for early-onset right-sided heart failure and premature death.

Howard Saal, MD

Dr. Saal served as President of American Cleft Palate Association (term ended 12/31/12) and served as a member of the AAP Neuromotor Screening panel. In addition, he was named to the top 1% of Clinical Geneticists by US News and World Report and listed in Best Doctors in America.

Elizabeth Schorry, MD

Dr. Schorry was re-funded by the Department of Defense for the NF Clinical Trials Consortium. She is the lead for the internationally recognized NF Clinic and is the PI for Cincinnati Children’s for the NF Consortium, which now includes 13 sites internationally and is funded through 2017 to perform clinical trials for NF1 and NF2. Two trials have been completed, an additional three trials are ongoing and enrolling, and two additional trials will open in the near future. Of particular interest are the trials of agents for treatment of plexiform neurofibromas, which will likely bring in the near future the first reports of drugs (MEK inhibitors) capable of shrinking these tumors. These trials have the potential to significantly impact health outcomes for children and adults with neurofibromatosis.

Teresa Smolarek, PhD

A collaborative effort between Drs. Sund, Zimmerman, Thomas, Mitchell, Prada, Bao, Martin, Smolarek and Grote, showed that SNP microarray will identify copy neutral regions of homozygosity (ROH) and demonstrated the clinical utility of ROH. Genetic information obtained from the array rapidly aided in the diagnosis of autosomal recessive disorders in some cases.

Together with Dr. Christine Phillips, MD of the CBDI, a collaborative study examined the use of low dose decitabine in children and young adults with refractory acute myeloid leukemia and demonstrated that this is an effective therapy for selected patients, thereby establishing a new therapeutic for these patients.

Rolf Stottmann, PhD

Dr. Stottmann, along with investigators from the Divisions of Human Genetics, Developmental Biology, and Hematology/Oncology, is undertaking studies to understand the genetic basis of congenital defects in patients with craniofacial and forebrain malformations. They have recently discovered the cause of two separate syndromes and have begun to uncover the molecular bases for these phenotypes.

Dr. Stottmann characterized a novel mouse mutation in the tubulin, beta 2B gene (Tubb2b) and showed that heterozygous mice for mutations in Tubb2b have behavioral abnormalities and subtle cortical defects. Homozygous mutants, however, die at birth and have major defects in growth and patterning of the forebrain. This is the first mouse model of a recessive mutation in tubulin genes and adds significantly to recent studies identifying the consequences of tubulin mutations (tubulinopathies) for brain development in mouse and human.

Dr. Stottmann was awarded a March of Dimes Basil O'Connor Research Scholar Award.

Ying Sun, PhD

Dr. Sun focuses her research on the glycosphingolipid storage diseases of the CNS in two major areas: 1) A detailed study of the glycosphingolipids in various regions of the brain and in visceral tissues showed that the accumulations of specific types of these lipids are region/organ and mutation dependent, and thereby, demonstrating substrate preference for specific mutations of acid β-glucosidase, the Gaucher disease enzyme. 2) Analysis of double deficiencies of the sphingolipids activator proteins (saposins) A and B showed differential in vivo effects on the sulfatide pathway and regionally specific effects in the CNS. These studies have implications for understanding the roles of glycosphingolipids and sulfated glycosphingolipids in regional brain development and disease as well as their treatment.

C. Alexander Valencia, PhD

Dr. Valencia has led the development of the bioinformatic analysis pipeline and the technical validation of the clinical exome program at Cincinnati Children’s. He has worked with the Division of Human Genetics, Rheumatology, and BMI to coordinate the launch of the two parallel analysis pipelines that meet CLIA/CAP regulatory requirements. The clinical exome will improve the diagnoses and potentially alter patient management, and provide identification of genes related to specific phenotypes which will be essential for addressing functional questions. In addition, his articles have shown that next-generation sequencing panels for congenital muscular dystrophies increases the diagnostic yield when compared to single gene Sanger sequencing testing. In the realm of protein-targeted delivery of cancer biomarkers, he demonstrated that his novel heptamer molecules successfully targeted EGFR and HER2 with high stability and avidity. He presented, “MetaboSeq: A clinical fatty acid oxidation disorders next generation sequencing panel” at the 130th OMICS Group Conference and International Conference on OMICS studies in Orlando, Florida.

Ge Zhang, MD, PhD

Dr. Zhang has conducted multiple genome-wide association (GWA) studies and quantitative genetic analyses of human complex traits and diseases, including 1) metabolic syndrome and related traits; 2) preterm birth and 3) isocyanate-induced occupational asthma. In addition, he has developed computer packages for efficient storage and rapid analysis of massive genomic data and he has conducted multiple genome-wide association (GWA) studies and quantitative genetic analyses of human complex traits. The significant results generated from these studies provided deeper insights into the molecular etiology and genetic architecture of human complex traits.

Kejian Zhang, MD, MBA

Dr. Zhang leads the design, validation and implementation of the next-generation sequencing based testing program including OtoSeq, MetaboSeq, ImmunoSeq, and Clinical Exome Sequencing at Cincinnati Children’s. The successful introduction of these clinical testing programs positions Cincinnati Children’s as a leading pediatric academic institution in genetic diagnoses for rare childhood diseases. It has and will have significance positive impact on clinical and basic research as well as improving children’s health.

Division Publications

Human Genetics Publications

  1. Alders M, Mendola A, Adès L, Al Gazali L, Bellini C, Dallapiccola B, Edery P, Frank U, Hornshuh F, Huisman SA, Jagadeesh S, Kayserili H, Keng WT, Lev D, Prada CE, Sampson JR, Schmidtke J, Shashi V, van Bever Y, Van der Aa N, Verhagen JM, Verheij JB, Vikkula M, Hennekam RC. Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations. Mol Syndromol. 2013; 4:107-13.
  2. Bandyopadhyay U, Cotney J, Nagy M, Oh S, Leng J, Mahajan M, Mane S, Fenton WA, Noonan JP, Horwich AL. RNA-Seq profiling of spinal cord motor neurons from a presymptomatic SOD1 ALS mouse. PLoS One. 2013; 8:e53575.
  3. Berger KA, Lynch J, Prows CA, Siegel RM, Myers MF. Mothers' perceptions of family health history and an online, parent-generated family health history tool. Clin Pediatr (Phila). 2013; 52:74-81.
  4. Bous SM, Solomon BD, Graul-Neumann L, Neitzel H, Hardisty EE, Muenke M. Holoprosencephaly-polydactyly/pseudotrisomy 13: a presentation of two new cases and a review of the literature. Clin Dysmorphol. 2012; 21:183-90.
  5. Burrow TA, Grabowski GA. Emerging Treatments and Future Outcomes. In: A Mehta, B Winchester, eds. Lysosomal Storage Disorders: A Practical Guide. New York: John Wiley & Sons, Ltd; 2013:174-180.
  6. Chen X, Yang Y, Huang Y, Tan J, Chen Y, Yang J, Dou H, Zou L, Yu J, Bao L. WT1 mutations and single nucleotide polymorphism rs16754 analysis of patients with pediatric acute myeloid leukemia in a Chinese population. Leuk Lymphoma. 2012; 53:2195-204.
  7. Dai Y, Yang J, Chen Y, Bao L, Cheng Q. Microarray analysis of unbalanced translocation in Wolf-Hirschhorn syndrome. Pediatr Int. 2013; 55:368-70.
  8. Esmailpour T, Huang T. TBX3 promotes human embryonic stem cell proliferation and neuroepithelial differentiation in a differentiation stage-dependent manner. Stem Cells. 2012; 30:2152-63.
  9. Fritsche LG, Chen W, Schu M, Yaspan BL, Yu Y, Thorleifsson G, Zack DJ, Arakawa S, Cipriani V, Ripke S, Igo RP, Jr., Buitendijk GH, Sim X, Weeks DE, Guymer RH, Merriam JE, Francis PJ, Hannum G, Agarwal A, Armbrecht AM, Audo I, Aung T, Barile GR, Benchaboune M, Bird AC, Bishop PN, Branham KE, Brooks M, Brucker AJ, Cade WH, Cain MS, Campochiaro PA, Chan CC, Cheng CY, Chew EY, Chin KA, Chowers I, Clayton DG, Cojocaru R, Conley YP, Cornes BK, Daly MJ, Dhillon B, Edwards AO, Evangelou E, Fagerness J, Ferreyra HA, Friedman JS, Geirsdottir A, George RJ, Gieger C, Gupta N, Hagstrom SA, Harding SP, Haritoglou C, Heckenlively JR, Holz FG, Hughes G, Ioannidis JP, Ishibashi T, Joseph P, Jun G, Kamatani Y, Katsanis N, C NK, Khan JC, Kim IK, Kiyohara Y, Klein BE, Klein R, Kovach JL, Kozak I, Lee CJ, Lee KE, Lichtner P, Lotery AJ, Meitinger T, Mitchell P, Mohand-Saïd S, Moore AT, Morgan DJ, Morrison MA, Myers CE, Naj AC, Nakamura Y, Okada Y, Orlin A, Ortube MC, Othman MI, Pappas C, Park KH, Pauer GJ, Peachey NS, Poch O, Priya RR, Reynolds R, Richardson AJ, Ripp R, Rudolph G, Ryu E, Sahel JA, Schaumberg DA, Scholl HP, Schwartz SG, Scott WK, Shahid H, Sigurdsson H, Silvestri G, Sivakumaran TA, Smith RT, Sobrin L, Souied EH, Stambolian DE, Stefansson H, Sturgill-Short GM, Takahashi A, Tosakulwong N, Truitt BJ, Tsironi EE, Uitterlinden AG, van Duijn CM, Vijaya L, Vingerling JR, Vithana EN, Webster AR, Wichmann HE, Winkler TW, Wong TY, Wright AF, Zelenika D, Zhang M, Zhao L, Zhang K, Klein ML, Hageman GS, Lathrop GM, Stefansson K, Allikmets R, Baird PN, Gorin MB, Wang JJ, Klaver CC, Seddon JM, Pericak-Vance MA, Iyengar SK, Yates JR, Swaroop A, Weber BH, Kubo M, Deangelis MM, Léveillard T, Thorsteinsdottir U, Haines JL, Farrer LA, Heid IM, Abecasis GR. Seven new loci associated with age-related macular degeneration. Nat Genet. 2013; 45:433-9, 439e1-2.
  10. Fukuda T, Goebel J, Cox S, Maseck D, Zhang K, Sherbotie JR, Ellis EN, James LP, Ward RM, Vinks AA. UGT1A9, UGT2B7, and MRP2 genotypes can predict mycophenolic acid pharmacokinetic variability in pediatric kidney transplant recipients. Ther Drug Monit. 2012; 34:671-9.
  11. Gao H, Liu Y, Zhang T, Yang R, Prows DR. Parametric proportional hazards model for mapping genomic imprinting of survival traits. J Appl Genet. 2013; 54:79-88.
  12. George-Abraham JK, Martin LJ, Kalkwarf HJ, Rieley MB, Stevenson DA, Viskochil DH, Hopkin RJ, Stevens AM, Hanson H, Schorry EK. Fractures in children with neurofibromatosis type 1 from two NF clinics. Am J Med Genet A. 2013; 161A:921-6.
  13. George-Abraham JK, Zimmerman SL, Hinton RB, Marino BS, Witte DP, Hopkin RJ. Tetrasomy 15q25.2→qter identified with SNP microarray in a patient with multiple anomalies including complex cardiovascular malformation. Am J Med Genet A. 2012; 158A:1971-6.
  14. Glauser TA, Cnaan A, Shinnar S, Hirtz DG, Dlugos D, Masur D, Clark PO, Adamson PC, Childhood Absence Epilepsy Study T. Ethosuximide, valproic acid, and lamotrigine in childhood absence epilepsy: initial monotherapy outcomes at 12 months. Epilepsia. 2013; 54:141-55.
  15. Grabowski GA. Gaucher disease and other storage disorders. Hematology Am Soc Hematol Educ Program. 2012; 2012:13-18.
  16. Greinwald J, Dealarcon A, Cohen A, Uwiera T, Zhang K, Benton C, Halstead M, Meinzen-Derr J. Significance of unilateral enlarged vestibular aqueduct. Laryngoscope. 2013; 123:1537-46.
  17. Grote L, Myers M, Lovell A, Saal H, Lipscomb Sund K. Variability in laboratory reporting practices for regions of homozygosity indicating parental relatedness as identified by SNP microarray testing. Genet Med. 2012; 14:971-6.
  18. He XY, Wang XB, Zhang R, Yuan ZJ, Tan JJ, Peng B, Huang Y, Liu EM, Fu Z, Bao LM, Zou L. Investigation of Mycoplasma pneumoniae infection in pediatric population from 12,025 cases with respiratory infection. Diagn Microbiol Infect Dis. 2013; 75:22-7.
  19. Hinks A, Cobb J, Marion MC, Prahalad S, Sudman M, Bowes J, Martin P, Comeau ME, Sajuthi S, Andrews R, Brown M, Chen WM, Concannon P, Deloukas P, Edkins S, Eyre S, Gaffney PM, Guthery SL, Guthridge JM, Hunt SE, James JA, Keddache M, Moser KL, Nigrovic PA, Onengut-Gumuscu S, Onslow ML, Rosé CD, Rich SS, Steel KJ, Wakeland EK, Wallace CA, Wedderburn LR, Woo P, Bohnsack JF, Haas JP, Glass DN, Langefeld CD, Thomson W, Thompson SD. Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis. Nat Genet. 2013; 45:664-9.
  20. Hogart A, Lichtenberg J, Ajay SS, Anderson S, Center NIHIS, Margulies EH, Bodine DM. Genome-wide DNA methylation profiles in hematopoietic stem and progenitor cells reveal overrepresentation of ETS transcription factor binding sites. Genome Res. 2012; 22:1407-18.
  21. Huber AK, Finkelman FD, Li CW, Concepcion E, Smith E, Jacobson E, Latif R, Keddache M, Zhang W, Tomer Y. Genetically driven target tissue overexpression of CD40: a novel mechanism in autoimmune disease. J Immunol. 2012; 189:3043-53.
  22. Hufnagel RB, Ahmed ZM, Correa ZM, Sisk RA. Gene therapy for Leber congenital amaurosis: advances and future directions. Graefes Arch Clin Exp Ophthalmol. 2012; 250:1117-28.
  23. Hufnagel RB, Riesenberg AN, Quinn M, Brzezinski JA 4th, Glaser T, Brown NL. Heterochronic misexpression of Ascl1 in the Atoh7 retinal cell lineage blocks cell cycle exit. Mol Cell Neurosci. 2013; 54:108-20.
  24. Hutton JJ, Dexheimer P, Grabowski GA. Genetic Variation and Gene Discovery . In: X Wang, ed. Pediatric Biomedical Informatics Computer Applications in Biomedical Research. Heidlberg; New York; London: Springer; 2013:379-393.
  25. Johnson KJ, Fisher MJ, Listernick RL, North KN, Schorry EK, Viskochil D, Weinstein M, Rubin JB, Gutmann DH. Parent-of-origin in individuals with familial neurofibromatosis type 1 and optic pathway gliomas. Fam Cancer. 2012; 11:653-6.
  26. Jumbo-Lucioni PP, Garber K, Kiel J, Baric I, Berry GT, Bosch A, Burlina A, Chiesa A, Pico ML, Estrada SC, Henderson H, Leslie N, Longo N, Morris AA, Ramirez-Farias C, Schweitzer-Krantz S, Silao CL, Vela-Amieva M, Waisbren S, Fridovich-Keil JL. Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes. J Inherit Metab Dis. 2012; 35:1037-49.
  27. Kamath-Rayne BD, Saal H, Lang S, Habli M. Recurrent severe oligohydramnios and fetal pulmonary hypoplasia associated with ErbB4 mutation. Obstet Gynecol. 2013; 121:499-501.
  28. Kansra AR, Dolan LM, Martin LJ, Deka R, Chernausek SD. IGF receptor gene variants in normal adolescents: effect on stature. Eur J Endocrinol. 2012; 167:777-81.
  29. Karsten CM, Pandey MK, Figge J, Kilchenstein R, Taylor PR, Rosas M, McDonald JU, Orr SJ, Berger M, Petzold D, Blanchard V, Winkler A, Hess C, Reid DM, Majoul IV, Strait RT, Harris NL, Köhl G, Wex E, Ludwig R, Zillikens D, Nimmerjahn F, Finkelman FD, Brown GD, Ehlers M, Köhl J. Anti-inflammatory activity of IgG1 mediated by Fc galactosylation and association of FcγRIIB and dectin-1. Nat Med. 2012; 18:1401-6.
  30. Kim D, Yan Y, Valencia CA, Liu R. Heptameric targeting ligands against EGFR and HER2 with high stability and avidity. PLoS One. 2012; 7:e43077.
  31. Klein BE, Howard KP, Lee KE, Iyengar SK, Sivakumaran TA, Klein R. The relationship of cataract and cataract extraction to age-related macular degeneration: the Beaver Dam Eye Study. Ophthalmology. 2012; 119:1628-33.
  32. Klein R, Cruickshanks KJ, Myers CE, Sivakumaran TA, Iyengar SK, Meuer SM, Schubert CR, Gangnon RE, Klein BE. The Relationship of Atherosclerosis to the 10-Year Cumulative Incidence of Age-related Macular Degeneration: The Beaver Dam Studies. Ophthalmology. 2013; 120:1012-9.
  33. Klein R, Myers CE, Meuer SM, Gangnon RE, Sivakumaran TA, Iyengar SK, Lee KE, Klein BE. Risk alleles in CFH and ARMS2 and the long-term natural history of age-related macular degeneration: the Beaver Dam Eye Study. JAMA Ophthalmol. 2013; 131:383-92.
  34. Kottyan LC, Woo JG, Keddache M, Banach W, Crimmins NA, Dolan LM, Martin LJ. Novel variations in the adiponectin gene (ADIPOQ) may affect distribution of oligomeric complexes. SpringerPlus. 2012; 1:66.
  35. Kurowski B, Martin LJ, Wade SL. Genetics and outcomes after traumatic brain injury (TBI): what do we know about pediatric TBI?. J Pediatr Rehabil Med. 2012; 5:217-31.
  36. Leikauf GD, Pope-Varsalona H, Concel VJ, Liu P, Bein K, Berndt A, Martin TM, Ganguly K, Jang AS, Brant KA, Dopico RA, Jr., Upadhyay S, Di YP, Li Q, Hu Z, Vuga LJ, Medvedovic M, Kaminski N, You M, Alexander DC, McDunn JE, Prows DR, Knoell DL, Fabisiak JP. Integrative assessment of chlorine-induced acute lung injury in mice. Am J Respir Cell Mol Biol. 2012; 47:234-44.
  37. Leikauf GD, Prows DR. Inorganic Compounds of Carbon, Nitrogen and Oxygen. In: E Bingham, B Cohrssen, eds. Patty's Toxicology. New York: Wiley & Sons; 2012:949-1032.
  38. Leshchiner I, Alexa K, Kelsey P, Adzhubei I, Austin-Tse CA, Cooney JD, Anderson H, King MJ, Stottmann RW, Garnaas MK, Ha S, Drummond IA, Paw BH, North TE, Beier DR, Goessling W, Sunyaev SR. Mutation mapping and identification by whole-genome sequencing. Genome Res. 2012; 22:1541-8.
  39. Liu B, Ha M, Meng X-Y, Khaleduzzaman M, Zhang Z, Li X, Cui M. Functional characterization of the heterodimeric sweet taste receptor T1R2 and T1R3 from a New World monkey species (squirrel monkey) and its response to sweet-tasting proteins. Biochem Biophys Res Commun. 2012; 427:431-437.
  40. Lu TX, Lim EJ, Wen T, Plassard AJ, Hogan SP, Martin LJ, Aronow BJ, Rothenberg ME. MiR-375 is downregulated in epithelial cells after IL-13 stimulation and regulates an IL-13-induced epithelial transcriptome. Mucosal Immunol. 2012; 5:388-96.
  41. Lyddon R, Dwork AJ, Keddache M, Siever LJ, Dracheva S. Serotonin 2c receptor RNA editing in major depression and suicide. World J Biol Psychiatry. 2012; Epub.
  42. Maglo KN, Martin LJ. Researching vs. Reifying Race: The Case of Obesity Research. Humana Mente: Journal of Philosophical Studies. 2012; 22:111-143.
  43. Maradiegue AH, Lyon DE, Meyers MF. Using family history and health risk behaviors to determine predictors of depressive symptoms in Central American immigrant mothers. Nurs Health Sci. 2012; Epub.
  44. Mellor-Heineke S, Villanueva J, Jordan MB, Marsh R, Zhang K, Bleesing JJ, Filipovich AH, Risma KA. Elevated Granzyme B in Cytotoxic Lymphocytes is a Signature of Immune Activation in Hemophagocytic Lymphohistiocytosis. Front Immunol. 2013; 4:72.
  45. Miao J, Chen Q, Bao L, Huang Y, Zhang J, Wan K, Yi J, Wang S, Zou L, Li T. Determination of optimal cutoff value to accurately identify glucose-6-phosphate dehydrogenase-deficient heterozygous female neonates. Clin Chim Acta. 2013; 424C:131-135.
  46. Najafian B, Mauer M, Hopkin RJ, Svarstad E. Renal complications of Fabry disease in children. Pediatr Nephrol. 2013; 28:679-87.
  47. Nalls MA, Duran R, Lopez G, Kurzawa-Akanbi M, McKeith IG, Chinnery PF, Morris CM, Theuns J, Crosiers D, Cras P, Engelborghs S, De Deyn PP, Van Broeckhoven C, Mann DM, Snowden J, Pickering-Brown S, Halliwell N, Davidson Y, Gibbons L, Harris J, Sheerin UM, Bras J, Hardy J, Clark L, Marder K, Honig LS, Berg D, Maetzler W, Brockmann K, Gasser T, Novellino F, Quattrone A, Annesi G, De Marco EV, Rogaeva E, Masellis M, Black SE, Bilbao JM, Foroud T, Ghetti B, Nichols WC, Pankratz N, Halliday G, Lesage S, Klebe S, Durr A, Duyckaerts C, Brice A, Giasson BI, Trojanowski JQ, Hurtig HI, Tayebi N, Landazabal C, Knight MA, Keller M, Singleton AB, Wolfsberg TG, Sidransky E. A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies. JAMA Neurol. 2013; 70:727-35.
  48. Namjou B, Keddache M, Fletcher D, Dillon S, Kottyan L, Wiley G, Gaffney PM, Wakeland BE, Liang C, Wakeland EK, Scofield RH, Kaufman K, Harley JB. Identification of novel coding mutation in C1qA gene in an African-American pedigree with lupus and C1q deficiency. Lupus. 2012; 21:1113-8.
  49. Nebert DW, Zhang G. Personalized medicine: temper expectations. Science. 2012; 337:910; author reply 910-1.
  50. Nebert DW, Zhang G, Vesell ES. Genetic risk prediction: individualized variability in susceptibility to toxicants. Annu Rev Pharmacol Toxicol. 2013; 53:355-75.
  51. Oh S, Song S, Grabowski G, Zhao H, Noonan JP. Time series expression analyses using RNA-seq: a statistical approach. BioMed Res Int. 2013; 2013:203681.
  52. Pandey MK, Grabowski GA. Immunological cells and functions in Gaucher disease. Crit Rev Oncog. 2013; 18:197-220.
  53. Pandey MK, Rani R, Zhang W, Setchell K, Grabowski GA. Immunological cell type characterization and Th1-Th17 cytokine production in a mouse model of Gaucher disease. Mol Genet Metab. 2012; 106:310-22.
  54. Park J, Liang D, Kim JW, Luo Y, Huang T, Kim SY, Chang SS. Nail DNA and possible biomarkers: a pilot study. J Prev Med Public Health. 2012; 45:235-43.
  55. Park JK, Martin LJ, Zhang X, Jegga AG, Benson DW. Genetic variants in SCN5A promoter are associated with arrhythmia phenotype severity in patients with heterozygous loss-of-function mutation. Heart Rhythm. 2012; 9:1090-6.
  56. Phillips CL, Davies SM, McMasters R, Absalon M, O'Brien M, Mo J, Broun R, Moscow JA, Smolarek T, Garzon R, Blum W, Schwind S, Marcucci G, Perentesis JP. Low dose decitabine in very high risk relapsed or refractory acute myeloid leukaemia in children and young adults. Br J Haematol. 2013; 161:406-10.
  57. Prada CE, Grabowski GA. Neuronopathic lysosomal storage diseases: Clinical and pathologic findings. Dev Disabil Res Rev. 2013; 17:226-46.
  58. Prada CE, Jefferies JL, Grenier MA, Huth CM, Page KI, Spicer RL, Towbin JA, Leslie ND. Malonyl coenzyme A decarboxylase deficiency: early dietary restriction and time course of cardiomyopathy. Pediatrics. 2012; 130:e456-60.
  59. Prada CE, Jousma E, Rizvi TA, Wu J, Dunn RS, Mayes DA, Cancelas JA, Dombi E, Kim MO, West BL, Bollag G, Ratner N. Neurofibroma-associated macrophages play roles in tumor growth and response to pharmacological inhibition. Acta Neuropathol. 2013; 125:159-68.
  60. Prada CE, Kaul A, Hopkin RJ, Page KI, Nathan JD, Bartholomew DW, Cohen MB, Heubi JE, Leslie ND, Burrow TA. Recurrent pancreatitis in ornithine transcarbamylase deficiency. Mol Genet Metab. 2012; 106:482-4.
  61. Prada CE, Zarate YA, Hopkin RJ. Genetic causes of macroglossia: diagnostic approach. Pediatrics. 2012; 129:e431-7.
  62. Prada CF, Alvarez-Velilla R, Diaz-González R, Prieto C, Pérez-Pertejo Y, Balaña-Fouce R, Reguera RM. A pentapeptide signature motif plays a pivotal role in Leishmania DNA topoisomerase IB activity and camptothecin sensitivity. Biochim Biophys Acta. 2012; 1820:2062-71.
  63. Prows CA, Hopkin RJ, Barnoy S, Van Riper M. An update of childhood genetic disorders. Journal of Nursing Scholarship. 2013; 45:34-42.
  64. Qiu Q, Li R, Jiang P, Xue L, Lu Y, Song Y, Han J, Lu Z, Zhi S, Mo JQ, Guan MX. Mitochondrial tRNA mutations are associated with maternally inherited hypertension in two Han Chinese pedigrees. Hum Mutat. 2012; 33:1285-93.
  65. Rosenfeld JA, Kim KH, Angle B, Troxell R, Gorski JL, Westemeyer M, Frydman M, Senturias Y, Earl D, Torchia B, Schultz RA, Ellison JW, Tsuchiya K, Zimmerman S, Smolarek TA, Ballif BC, Shaffer LG. Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly. Mol Syndromol. 2013; 3:247-54.
  66. Ross LF, Saal HM, David KL, Anderson RR. Technical report: Ethical and policy issues in genetic testing and screening of children. Genet Med. 2013; 15:234-45.
  67. Sadhasivam S, Krekels EH, Chidambaran V, Esslinger HR, Ngamprasertwong P, Zhang K, Fukuda T, Vinks AA. Morphine clearance in children: does race or genetics matter?. J Opioid Manag. 2012; 8:217-26.
  68. Schorry EK, Sites E. Clinical Expression of NF1 in Monozygotic Twins. In: M Upadhyaya, DN Cooper, eds. Neurofibromatosis Type 1. Heidelberg; New York; London: Springer; 2012:71-81.
  69. Sivakumaran TA, Husami A, Kissell D, Zhang W, Keddache M, Black AP, Tinkle BT, Greinwald JH, Jr., Zhang K. Performance evaluation of the next-generation sequencing approach for molecular diagnosis of hereditary hearing loss. Otolaryngol Head Neck Surg. 2013; 148:1007-16.
  70. Solomon BD, Bear KA, Wyllie A, Keaton AA, Dubourg C, David V, Mercier S, Odent S, Hehr U, Paulussen A, Clegg NJ, Delgado MR, Bale SJ, Lacbawan F, Ardinger HH, Aylsworth AS, Bhengu NL, Braddock S, Brookhyser K, Burton B, Gaspar H, Grix A, Horovitz D, Kanetzke E, Kayserili H, Lev D, Nikkel SM, Norton M, Roberts R, Saal H, Schaefer GB, Schneider A, Smith EK, Sowry E, Spence MA, Shalev SA, Steiner CE, Thompson EM, Winder TL, Balog JZ, Hadley DW, Zhou N, Pineda-Alvarez DE, Roessler E, Muenke M. Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog. J Med Genet. 2012; 49:473-9.
  71. Stevenson DA, Little D, Armstrong L, Crawford AH, Eastwood D, Friedman JM, Greggi T, Gutierrez G, Hunter-Schaedle K, Kendler DL, Kolanczyk M, Monsell F, Oetgen M, Richards BS, Schindeler A, Schorry EK, Wilkes D, Viskochil DH, Yang FC, Elefteriou F. Approaches to treating NF1 tibial pseudarthrosis: consensus from the Children's Tumor Foundation NF1 Bone Abnormalities Consortium. J Pediatr Orthop. 2013; 33:269-75.
  72. Strehle EM, Gruszfeld D, Schenk D, Mehta SG, Simonic I, Huang T. The spectrum of 4q- syndrome illustrated by a case series. Gene. 2012; 506:387-91.
  73. Strehle EM, Yu L, Rosenfeld JA, Donkervoort S, Zhou Y, Chen TJ, Martinez JE, Fan YS, Barbouth D, Zhu H, Vaglio A, Smith R, Stevens CA, Curry CJ, Ladda RL, Fan ZJ, Fox JE, Martin JA, Abdel-Hamid HZ, McCracken EA, McGillivray BC, Masser-Frye D, Huang T. Genotype-phenotype analysis of 4q deletion syndrome: proposal of a critical region. Am J Med Genet A. 2012; 158A:2139-51.
  74. Sumegi J, Nestheide SV, Barnes MG, Villanueva J, Zhang K, Grom AA, Filipovich AH. Gene-expression signatures differ between different clinical forms of familial hemophagocytic lymphohistiocytosis. Blood. 2013; 121:e14-24.
  75. Sun Y, Grabowski GA. Altered autophagy in the mice with a deficiency of saposin A and saposin B. Autophagy. 2013; 9:1115-1116.
  76. Sun Y, Zamzow M, Ran H, Zhang W, Quinn B, Barnes S, Witte DP, Setchell KD, Williams MT, Vorhees CV, Grabowski GA. Tissue-specific effects of saposin A and saposin B on glycosphingolipid degradation in mutant mice. Hum Mol Genet. 2013; 22:2435-50.
  77. Sun Y, Zhang W, Xu YH, Quinn B, Dasgupta N, Liou B, Setchell KD, Grabowski GA. Substrate compositional variation with tissue/region and Gba1 mutations in mouse models--implications for Gaucher disease. PLoS One. 2013; 8:e57560.
  78. Sund KL, Zimmerman SL, Thomas C, Mitchell AL, Prada CE, Grote L, Bao L, Martin LJ, Smolarek TA. Regions of homozygosity identified by SNP microarray analysis aid in the diagnosis of autosomal recessive disease and incidentally detect parental blood relationships. Genet Med. 2013; 15:70-8.
  79. Thompson SD, Marion MC, Sudman M, Ryan M, Tsoras M, Howard TD, Barnes MG, Ramos PS, Thomson W, Hinks A, Haas JP, Prahalad S, Bohnsack JF, Wise CA, Punaro M, Rosé CD, Pajewski NM, Spigarelli M, Keddache M, Wagner M, Langefeld CD, Glass DN. Genome-wide association analysis of juvenile idiopathic arthritis identifies a new susceptibility locus at chromosomal region 3q13. Arthritis Rheum. 2012; 64:2781-91.
  80. Tomer Y, Hasham A, Davies TF, Stefan M, Concepcion E, Keddache M, Greenberg DA. Fine mapping of loci linked to autoimmune thyroid disease identifies novel susceptibility genes. J Clin Endocr Metab. 2013; 98:E144-52.
  81. Tran PV, Lachke SA, Stottmann RW. Toward a systems-level understanding of the Hedgehog signaling pathway: defining the complex, robust, and fragile. Wiley Interdiscip Rev Syst Biol Med. 2013; 5:83-100.
  82. Valencia CA, Ankala A, Rhodenizer D, Bhide S, Littlejohn MR, Keong LM, Rutkowski A, Sparks S, Bonnemann C, Hegde M. Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel. PLoS One. 2013; 8:e53083.
  83. Valencia CA, Sivakumaran TA, Tinkle BT, Husami A, Zhang K. NGS-Based Clinical Diagnosis of Genetically Heterogeneous Disorders. In: L-JC Wong, ed. Next Generation Sequencing. New York: Springer; 2013:115-150.
  84. Valencia CA, Zou J, Liu R. In vitro selection of proteins with desired characteristics using mRNA-display. Methods. 2013; 60:55-69.
  85. van der Ploeg AT, Barohn R, Carlson L, Charrow J, Clemens PR, Hopkin RJ, Kishnani PS, Laforêt P, Morgan C, Nations S, Pestronk A, Plotkin H, Rosenbloom BE, Sims KB, Tsao E. Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfa. Mol Genet Metab. 2012; 107:456-61.
  86. Vithana EN, Khor CC, Qiao C, Nongpiur ME, George R, Chen LJ, Do T, Abu-Amero K, Huang CK, Low S, Tajudin LS, Perera SA, Cheng CY, Xu L, Jia H, Ho CL, Sim KS, Wu RY, Tham CC, Chew PT, Su DH, Oen FT, Sarangapani S, Soumittra N, Osman EA, Wong HT, Tang G, Fan S, Meng H, Huong DT, Wang H, Feng B, Baskaran M, Shantha B, Ramprasad VL, Kumaramanickavel G, Iyengar SK, How AC, Lee KY, Sivakumaran TA, Yong VH, Ting SM, Li Y, Wang YX, Tay WT, Sim X, Lavanya R, Cornes BK, Zheng YF, Wong TT, Loon SC, Yong VK, Waseem N, Yaakub A, Chia KS, Allingham RR, Hauser MA, Lam DS, Hibberd ML, Bhattacharya SS, Zhang M, Teo YY, Tan DT, Jonas JB, Tai ES, Saw SM, Hon do N, Al-Obeidan SA, Liu J, Chau TN, Simmons CP, Bei JX, Zeng YX, Foster PJ, Vijaya L, Wong TY, Pang CP, Wang N, Aung T. Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma. Nat Genet. 2012; 44:1142-6.
  87. Wittkowski KM, Sonakya V, Song T, Seybold MP, Keddache M, Durner M. From single-SNP to wide-locus: genome-wide association studies identifying functionally related genes and intragenic regions in small sample studies. Pharmacogenomics. 2013; 14:391-401.
  88. Woo JG, Martin LJ, Ding L, Brown WM, Howard TD, Langefeld CD, Moomaw CJ, Haverbusch M, Sun G, Indugula SR, Cheng H, Deka R, Woo D. Quantitative criteria for improving performance of buccal DNA for high-throughput genetic analysis. BMC Genet. 2012; 13:75.
  89. Yang J, Yang Y, Huang Y, Hu Y, Chen X, Sun H, Lv Z, Cheng Q, Bao L. A study of two Chinese patients with tetrasomy and pentasomy 15q11q13 including Prader-Willi/Angelman syndrome critical region present with developmental delays and mental impairment. BMC Genet. 2013; 14:9.
  90. Zhang C, Huang VH, Simon M, Sharma LK, Fan W, Haas R, Wallace DC, Bai Y, Huang T. Heteroplasmic mutations of the mitochondrial genome cause paradoxical effects on mitochondrial functions. FASEB J. 2012; 26:4914-24.
  91. Zhang G, Jin L, Chakraborty R. Single-Locus Genetic Association Analysis by Ordinal Tests. In: C Rao, R Chakraborty, PK Sen, eds. Handbook of Statistics: Bioinformatics in Human Health and Heredity. Oxford: North Holland; 2012:309-338.
  92. Zhang G, Karns R, Sun G, Indugula SR, Cheng H, Havas-Augustin D, Novokmet N, Durakovic Z, Missoni S, Chakraborty R, Rudan P, Deka R. Finding missing heritability in less significant Loci and allelic heterogeneity: genetic variation in human height. PLoS One. 2012; 7:e51211.
  93. Zimran A, Pastores GM, Tylki-Szymanska A, Hughes DA, Elstein D, Mardach R, Eng C, Smith L, Heisel-Kurth M, Charrow J, Harmatz P, Fernhoff P, Rhead W, Longo N, Giraldo P, Ruiz JA, Zahrieh D, Crombez E, Grabowski GA. Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase. Am J Hematol. 2013; 88:172-8.

Faculty, Staff, and Trainees

Faculty Members

Gregory Grabowski, MD, Professor
Leadership The A. Graeme Mitchell Chair in Human Genetics; Director, Division of Human Genetics; Professor of Pediatrics and Molecular Genetics, Biochemistry and Microbiology
Research Interests Molecular pathogenesis and therapy of human genetic disease
Carrie Atzinger, MS, Assistant Professor
Leadership Assoc. Director, The Genetic Counseling Program
Liming Bao, MD, PhD, Associate Professor
Leadership Associate Director, Clinical Cytogenetics Laboratory
Research Interests Genetic biomarkers of hematological diseases and their underlying pathogenesis and clinical relevance
T. Andrew Burrow, MD, Assistant Professor
Research Interests Lysosomal storage diseases, particularly Gaucher disease; Inborn errors of metabolism, particularly focusing on development of evidence based medicine
Min-Xin Guan, PhD, Professor
Research Interests Mechanisms of mitochondrial disorders, with a focus on maternally transmitted hearing loss and vision loss
Amber Hogart-Begtrup, PhD, Assistant Professor
Leadership Assistant Director, Clinical Molecular Genetics Laboratory
Research Interests Next Generation Sequencing/ Epigenomics/Molecular Genetic Diagnostics
Robert Hopkin, MD, Associate Professor
Leadership Director, Genetic Residency Programs
Research Interests Fabry Disease; Robin Sequence; 22q11 deletion; Neurofibromatosis; craniofacial genetics; chromosomal anomalies
Taosheng Huang, MD, PhD, Professor
Leadership Director, Program of Mitochondrial Medicine; Associate Director, Molecular Diagnostic Laboratory
Research Interests Disease-causing gene discovery with next generation sequencing and iPS cell therapy
Mehdi Keddache, PhD, Assistant Professor
Leadership Leader, Genetic Variation and Gene Discovery Laboratory
Research Interests DNA Sequencing / Genotyping Core/Linkage and Association analyses
Nancy Doan Leslie, MD, Professor
Leadership Director, Biochemical Genetics Laboratory; Director, Medical Biochemical Genetics Fellowship; Program Director, Laboratory Fellowships
Research Interests Inborn errors of metabolism, with an emphasis on long term outcome in PKU and in the molecular biology of galactosemia
Ronghua Li, PhD, Instructor
Research Interests Cell-specific models of mitochondrial diseases
Xia Li, PhD, Assistant Professor
Leadership Assistant Director, Clinical Cytogenetics Laboratory
Research Interests The role of molecular markers in hematological disorders for prediction, treatment, and monitoring
Lisa Martin, PhD, Associate Professor
Leadership Biostatistics and Epidemiology
Research Interests Focus on common complex diseases including obesity and heart malformations
Melanie Myers, PhD, MS, CGC, Associate Professor
Leadership Director, The Genetic Counseling Program
Research Interests Clinical utility of family health history and other genomic tools in health promotion
Derek Neilson, MD, Assistant Professor
Research Interests The genetic contribution to acute necrotizing encephalopathy, a disorder in which children are predisposed to devastating neurologic injury following common infections
William Nichols, PhD, Professor
Leadership Associate Lab Director; Chairman, DHG Research Review Committee
Research Interests The identification of genetic variants contributing to disease susceptibility
Sunghee Oh, PhD, Assistant Professor
Research Interests Development of methodologies in RNA-seq; temporal dynamic profiles; genetic regulatory analysis; Bayesian approaches in RNA-seq and chip-seq
Manoj Pandey, PhD, Instructor
Research Interests Immunobiology of the lysosomal storage disease
Daniel R Prows, PhD, Associate Professor
Research Interests Mouse models of complex human diseases, with specific interest in mouse models of acute lung injury; use of quantitative trait locus analysis to identify regions linked to complex traits
Howard Saal, MD, Professor
Leadership Director, Clinical Genetics; Medical Director, Cytogenetics Laboratory; Director, Cincinnati Children's Craniofacial Center
Research Interests The natural history of genetic disorders, especially as they relate to craniofacial disorders; developing treatment and management protocols for craniofacial disorders
Iris Sageser, RDH, MS, Associate Professor
Leadership Craniofacial Center
Research Interests Multidisciplinary management of individuals affected by craniofacial abnormalities
Elizabeth K Schorry, MD, Associate Professor
Leadership Director, Neurofibromatosis Clinic
Research Interests Psychosocial and orthopedic aspects of neurofibromatosis; Clinical drug trials for NF1
Teresa A Smolarek, PhD, Associate Professor
Leadership Director, Clinical Cytogenetics Laboratory; Director, Clinical Cytogenetics Fellowship Program
Research Interests Application of SNP microarrays to determine constitutional and acquired DNA copy number changes; the genetic basis of pulmonary lymphangioleiomyomatosis
Rolf W Stottmann, PhD, Assistant Professor
Research Interests Genetic analysis of congenital malformations affecting the brain and face
Ying Sun, PhD, Associate Professor
Research Interests The pathological mechanisms of lysosomal storage diseases
Siva Theru Arumugam, PhD, Assistant Professor
Leadership Assistant Director, Molecular Genetics Laboratory
Research Interests Finding the genes for macular deterioration, Quantitative Genetics
C. Alexander Valencia, PhD, Assistant Professor
Leadership Assistant Director, Molecular Genetics Laboratory
Research Interests Clinical genomics and proteomics: A systems biology view in human genetics
You-hai Xu, MD, PhD, Professor Emeritus
Research Interests Molecular and pathophysiological mechanisms of Gaucher Disease, particularly of neuronopathic Gaucher Disease
Ge Zhang, MD, PhD, Assistant Professor
Research Interests Genome-wide association studies and mathematical modeling of human genetic variations
Kejian Zhang, MD, MBA, Associate Professor
Leadership Director, Molecular Genetics Laboratory
Research Interests Molecular defects and molecular diagnosis of primary immunodeficiency diseases; Genetic aspects of predictive personalized medicine, eg., Pharmacogenetics; Fanconi Anemia SeqChip development
Sarah Zimmerman, PhD, Assistant Professor
Leadership Assistant Director, Clinical Cytogenetics Laboratory
Research Interests Genome-wide analysis for chromosome aberrations in congenital disorders and cancer using molecular cytogenetic techniques

Joint Appointment Faculty Members

Artem Barski, PhD, Assistant Professor (Allergy & Immunology)
Research Interests Chromatin biology; epigenomic and transcriptional regulation of immune response; use of epigenomic data to augment genome –wide association studies
Paula Goldenberg, MD, Assistant Professor (Cardiology)
Research Interests Application of genomic and clinical research methods in syndromic populations
John Greinwald, MD, Associate Professor (Otolaryngology)
Research Interests Genetics of Hearing Loss
Kenneth Kaufman, PhD, Professor (Center for Autoimmune Genomics and Etiology)
Research Interests Genetics of complex diseases such as systemic lupus erythematosus
Kakajan Komurov, PhD, Assistant Professor (Exp. Hem. & Cancer Bio.)
Research Interests Interested in identifying global molecular network models of cancer progression
Stephanie Ware, MD, PhD, Associate Professor (Molecular Cardiovascular Biology)
Research Interests Genetic disorders of cardiac structure and function

Clinical Staff Members

  • Laurie Bailey, MS, Lysosomal Disease Center Coordinator;Clinical Trials Coordinator
  • Judy Belli, RN
  • Patricia Bender, RN, MSN
  • Lisa Berry, MS
  • Ashley Brazil, MS
  • Anne Burroughs, RN
  • Kathleen Collins, MS
  • Jessica Connor, MS
  • Susan Cordes, MS
  • Jennifer Glass, MS
  • Carol Hetteburg, RN, MSN
  • Judy Johnson, MS
  • Sandy Kaiser, LPN
  • Emily King, MS
  • Sara Knapke, MS, Hereditary Cancer Program;Clinical Manager
  • Betty Leech, MS
  • Anne Lovell, RN, MSN, APN
  • Erin Mundt, MS
  • Kimberly Page, RD
  • Cynthia Prows, MSN,CNS
  • Shelly Rudnick, MS
  • Jodie Rueger, MS
  • Jacqueline Scott, MS
  • Krysten Shipley, MS
  • Diana Smith, MS
  • Christine Spaeth, MS
  • Kristen Sund, PhD
  • Martha Walker, MS
  • Connie Wehmeyer, RN
  • Katie Wusik, MS

Trainees

  • Sophia Bous, MD, PGY3, Pediatrics/Genetics Combined Residency
  • Lisa Dyer, PhD, PGY6, Clinical Fellow Cytogenetics
  • Rob Hufnagel, MD, PhD, PGY2, Pediatrics/Genetics Combined Residency
  • Harry Lesmana, MD, PGY1, Pediatrics/Genetics Combined Residency
  • Haiying Meng, PhD, PGY7, Clinical Cytogenetics Fellowship
  • Stephanie Peters Santoro, MD, PGY4, Pediatrics/Genetics Combined Residency
  • Carlos Prada, MD, PGY7, Pediatrics/Genetics Combined Residency/Clinical Biochemical Genetics Fellowship
  • Yaping Qian, PhD, PGY7, Clinical Fellow Molecular Genetics
  • K. Nicole Weaver, MD, PGY4, Pediatrics/Genetics Combined Residency

Division Collaboration

Allergy and Immunology » Pablo Abonia, MD and Marc Rothenberg, MD, PhD
Identifying contributions of Ehlers Danlos to eosinophilic esophagitis.
Allergy and Immunology » Marc Rothenberg, MD, PhD
Statistical genetic analyses for Dr. Rothenberg's NIH grant.
Allergy and Immunology » Kimberly Risma, MD, PhD
Characterizing novel granzyme B substrates, through functional assays.
Anesthesiology; Occupational Therapy and Physical Therapy; Sports Medicine; Rheumatology » Ken Goldschneider, MD, FAAP, Jason Long, PhD, Paula Melson, PT, MMSc, Stephanie Powell, PT, Greg Myer, PhD, and Tracy Ting, MD
Clinical studies in Ehlers-Danlos hypermobility.
Anesthesiology » Senthil Sadhasivam, MD, MPH
A research project identify genetic variations influencing pain relief and opioid adverse effects in children.
Anesthesiology » Senthil Sadhasivam, MD, MPH
Pre-emptive Genotyping of Children and Adolescents.
Anesthesiology » Senthil Sadhasivam, MD, MPH
Study of “Improving Acute Pediatric Pain Management Using Neurogenomics”.
Anesthesiology » Senthil Sadhasivam, MD, MPH
The genetics of opioid and morphine related side effects and analgesia.
Asthma Research » Neeru Hershey, MD, PhD
Providing statistical assistance for grant development, and a biostatistical core for a U19.
Biomedical Informatics » Bruce Aronow, PhD
Analysis interfaces for NGS data.
Biomedical Informatics » Keith Marsolo, PhD
eMERGE
Biostatistics and Epidemiology » Jessica Woo, MHSA, PhD
Statistical analysis on various manuscripts.
Biostatistics and Epidemiology » Rick Ittenbach, PhD
Planning team for Feb 2013 Empirical Bioethics conference sponsored by CCTST.
Bone Marrow Transplantation and Immune Deficiency » Sonata Jodele, MD
Research project finding genetic causes of hematopoietic stem cell transplantation-associated thrombiotic microangiopathy.
Bone Marrow Transplantation and Immune Deficiency » Stella Davies, MBBS, PhD and Parinda A. Mehta, MD
Investigating monosomy 7 and its association with pediatric myelodysplastic syndrome or acute myeloid leukemia.
Bone Marrow Transplantation & Immune Deficiency ; Experimental Hematology » Stella Davies, MBBS, PhD , Parinda Mehta, MD, Jim Mulloy, PhD, and Jose Cancellas, MD, PhD
Examining genomic copy number changes in flow sorted cells by SNP microarray analysis.
Bone Marrow Transplantation & Immune Deficiency » Alexandra (Lisa) Filipovich, MD and Stella Davies, MBBS, PhD
The study of primary immunodeficiency disorders.
Bone Marrow Transplantation & Immune Deficiency » Alexandra (Lisa) Filipovich, MD and Stella Davies, MBBS, PhD
Molecular diagnoses of patients with immunodeficiency.
Cardiology » Jeffery Molkentin, PhD
Characterizing mouse model of mitochondrial phosphate carrier disease.
Cardiology » Stephanie Ware, MD, PhD, FACMG
Database established to look at DNA copy number changes in the genome in patients with congenital heart defects.
Cardiology » Stephanie Ware, MD, PhD, FACMG
NIH funded project using next generation sequence data
Cardiology ; Molecular Cardiovascular Biology » John Lynn Jefferies, MD and Michael Taylor, MD
Initial characterization of a new heart failure mutant line.
Clinical Pharmacology » Sander Vinks, PharmD, PhD, FCP
Genetic Pharmacology Services
Clinical Pharmacology » Sander Vinks, PharmD, PhD, FCP
Pharmacogenetics of IMPDH in Kidney Transplant Patients which is an extension of our on-going study of genetic effect of UGT2B7, 1A8 and 1A9 on the pharmacogenetics of MPA on patients underwent kidney transplant.
Clinical Pharmacology » Sander Vinks, PharmD, PhD, FCP
To evaluate the advantage of pharmacogenetics based Tacrolimus dosing through a clinical trial.
Critical Care Medicine » Hector R. Wong, MD,
Genetic stratification of clinical septic shock.
Dermatology » Anne Lucky, MD
Genetic study for Epidermolysis Bullosa.
Dermatology » Anne Lucky, MD
Developing a clinical assays for the genetic diagnosis of Epidermolysis Bullosa.
Dermatology » Kara Shah, MD, PhD
Co-directs the genodermatoses clinic which focus on diagnosis, management, and clinical research of individuals with genetic disorders having significant dermatologic involvement.
Developmental Biology » Brian Gebelein, PhD
Developing a drosophila model of a unique dystonia-spastic paraplegia mutation.
Developmental Biology » Jim Wells, PhD and Chris Mayhew, PhD
Designed and maintains the PSCF ordering website and billing system for the iPSC core.
Developmental Biology » Rulang Jiang, PhD
Forward genetics to identify novel molecular players in Shh signal transduction.
Developmental Biology » Chris Mayhew, PhD
Generating induce pluripotent stem cells from human fibroblasts.
Endocrinology » Lawrence M. Dolan, MD
Genetic test for patients with Diabetes and hypoglycemia.
Environmental Health » Ranjan Deka, PhD
To conduct a systematic genetic study of metabolic traits involved in metabolic syndrome.
Experimental Hematology and Cancer Biology Research » Dao Pan, PhD
Neuronopathic Gaucher disease treatment.
Experimental Hematology and Cancer Biology Research » Nancy Ratner, PhD
Provides basic science expertise as the basis for NF clinical trials.
Experimental Hematology and Cancer Biology Research » Qishen Pang, PhD
Mouse ES cell characterization and breakage analysis.
Experimental Hematology and Cancer Biology Research » Lionel Chow, MD, PhD
Characterization of mouse model for oligodendroglioma.
Experimental Hematology and Cancer Biology Research » Punam Malik, MD and Jose Cancelas, MD, PhD
Helping CEH and C4 researchers with DNA Sequencing experimental designs.
Experimental Hematology and Cancer Biology Research » Marie-Dominique Filippi, PhD
Statistical analysis on RNA-seq transcriptome(and microarray) and Chip-seq with methylation marks.
Gastroenterology, Hepatology and Nutrition Research » Jorge A Bezerra, MD and Alexander Miethke, MD
Neonatal Jaundice testing program.
Gastroenterology, Hepatology and Nutrition Research » Jorge A. Bezerra, MD and Alexander Miethke, MD
Development of a Liver Disease testing center.
Gastroenterology, Hepatology and Nutrition Research » Alexander Miethke, MD
Functional characterization of candidate genes identified by exome sequencing.
Gastroenterology, Hepatology and Nutrition Research » Alexander Miethke, MD
Molecular Basis of mitochondrial depletion syndrome.
Gastroenterology, Hepatology and Nutrition Research » Jorge Bezerra, MD and Cindy Wetzel, PhD
DHC researchers with DNA Sequencing experimental designs.
General and Thoracic Surgery; Hematology/Oncology; Hemangioma and Vascular Malformation Center » Belinda Dickie, MD, PhD, Denise Adams, MD, Adrienne Hammill, MD, PhD, and Peter Dickie, PhD
Working to identify genes in vascular malformations.
Hematology » Ralph A. Gruppo, MD
Developing of Next-generation sequencing-based molecular screening test for atypical hemolytic uremic syndrome and blood coagulation disorders.
Hematology » Eric Mullins, MD
A potential new bleeding mutant line in the colony; exome sequencing has revealed some interesting candidate genes.
Hematology » Charles Quinn, MD, MS
Launch of the testing program for hemoglobin disorders, e.g. Sickle cell and alpha and beta Thalassemia.
Hematology » Malik Putnam, MD and Theodosia Kalfa, MD, PhD
Develop clinical panel testing for “Red Cell Skeleton" disorders.
Hematology » Theodosia Kalfa, MD, PhD
Developing comprehensive genetic assays for the diagnosis of Hereditary Spherocytosis and other inherited hemolytic anemias.
Hospital Medicine  » Armand Antommaria, MD, PhD, FAAP
Student project, interviewer for research ethicist candidates, Bioethics conference planning team.
Infectious Diseases » David Bernstein, MD, MA
To test genome-wide associations for genetic risk factors for isocyanate-induced occupational asthma.
Information Services » Shanti Smith
EPIC –Genetic Pharmacology Services results templates and clinical decision support alerts.
Medical Bioinformatics » Phil Dexheimer, MS
Sorting and reanalysis of exome sequencing data, specifically the heart failure mutant line on the A/J strain.
Molecular Cardiology » Arnold W. Strauss, MD
MetaboSeq genetic testing.
Neurology » Donald Gilbert, MD, MS
Studying dystonia-spastic paraplegia.
Neurology » Steve Danzer, PhD
Evaluating a new mouse model of congenital forebrain malformations that has epileptic seizure activity.
Neurology » Barbara Hallinan, MD, PhD
Co-directs the neurometabolic clinic which focus on diagnosis, management, and clinical research of patients with neurometabolic conditions.
Neurology » Charles Vorhees, PhD, Michael William, PhD, and Matthew Skelton, PhD
Assessment of neurobehavioral in our mouse models with neurologic defect.
Neurology » Matthew R. Skelton, PhD
iPS cell model for creatinine transport defects.
Oncology » John P. Perentesis, MD, FAAP
Genetic changes in pediatric patients with leukemia and lymphoma.
Oncology » John P. Perentesis, MD, FAAP
To develop a new pediatric oncology testing program.
Oncology » John P. Perentesis, MD, FAAP
Test design for tumor genotyping.
Oncology » Biplab DasGupta, PhD and John P. Perentesis, MD, FAAP
Molecular mechanisms underlying a novel, causal mutation in patients with microcephaly identified in DHG human exome analysis protocol.
Oncology » John P. Perentesis, MD, FAAP and Brian Weiss, MD
Development and implementation of the drug trials for plexiform neurofibromas, optic nerve gliomas, and MPNST.
Oncology » Jim Geller, MD
Development of fluorescence in situ hybridization (FISH) probes to more accurately diagnose specific translocations in pediatric renal cell carcinoma.
Ophthalmology » Zubair M. Ahmed, PhD
Developing next-generation sequencing-based molecular screening test for eye disorders.
Ophthalmology » Zubair M. Ahmed, PhD
Eye genetics research and identifying genes for new and rare eye disorders.
Ophthalmology » Richard Lang, PhD
Characterization of Bst mice.
Orthopedics » Alvin Crawford MD, FACS and Viral Jain MD
Clinical studies involving bone complications of NF1.
Otolaryngology » John Greinwald, MD, FAAP and Daniel Choo, MD
Long time collaboration has resulted in nationally recognized molecular diagnostic program.
Pathology and Laboratory Medicine » Joel Mortensen PhD and David Witte MD
Designed CLIA test for clinical microbiology.
Pathology and Laboratory Medicine » David Witte MD
Consultations for mouse and human tissue pathology.
Pathology and Laboratory Medicine » Kevin Bove, MD
Molecular Basis of mitochondrial depletion syndrome
Pathology and Laboratory Medicine » Kenneth D. Setchell, PhD
Role of cholesterol metabolism in the phenotypes in a mouse model with a mutation in a cholesterol biosynthetic enzyme.
Patient Services Center for Professional Excellence » Rita Pickler, PhD, RN, PNP-BC,FAAN
Theses RACs, Divisional Scientific Review.
Pediatric Surgery » Joo-Seop Park, PhD
Statistical analysis on Chip-seq data.
Perinatal Institute » Louis J. Muglia, MD, PhD
To identify genetic variants in human birth timing control by genome-wide analysis in human populations as well as cross-species comparisons and microevolutionary approaches.
Physical Medicine and Rehabilitation » Brad Kurowski, MD, MS
Genetics of recovery from traumatic brain injury.
Plastic Surgery ; Developmental Biology » Samantha Brugmann, PhD, Rulang Jiang, PhD, and Steven Potter, PhD
Exome analyses for studies to identify genes important for to craniofacial and brain development.
Plastic Surgery ; Developmental Biology » Samantha Brugmann, PhD
Studying the role of primary cilia in regulating growth and patterning of the embryonic forebrain and craniofacial structures.
Psychiatry » Drew Barzman, MD and Melissa Delbello, MD
Genomic research aimed at identifying predisposition to bipolar disorder.
Pulmonary Biology » Steve Glasser, PhD
Assessing lung pathology following several acute injuries, including ozone or hyperoxia inhalation, and lung infection models.
Radiology » Beth M. Kline-Fath, MD
Prenatal diagnosis of skeletal dysplasias.
Reproductive Science » Hosu Sin, PhD
Statistical analysis on RNA-seq and microarray data.
Rheumatology » Matthew T. Weirauch, PhD
Testing whether mRNA-display can identify transcription factors that can bind in the regulatory regions of lupus susceptibility genes.
Rheumatology » John Harley MD, PhD and Ke Liu, BS
Investigating sex chromosome abnormalities and what role they may play in a group of select autoimmune disorders.
Rheumatology » John Harley MD, PhD and Michael Barnes, PhD
Return of eMERGE Research Results.
Rheumatology » Alexei Grom MD
To define genetic defects responsible for the development of MAS in sJIA.
Rheumatology » Alexei Grom MD
The relationship between defects in Munc13-4 gene and Macrophage Activation Syndrome in patients with sJIA.
Rheumatology » John Harley, MD, PhD and Kenneth Kaufman, PhD
Develop and implement the Whole Exome Sequencing technology and analyses for clinical services.
Rheumatology » John Harley MD,PhD
Informatics for emerge projects.
Rheumatology; Medical Bioinformatics; CCHMC Biobank » John Harley MD, PhD, Michael Barnes, PhD , and Keith Marsolo, PhD
Co-Investigators on the National Biological Sample and Data Repository for PAH.

Grants, Contracts, and Industry Agreements

Human Genetics Grants

Grant and Contract AwardsAnnual Direct

Burrow, T

Bringing Together Rare Disease: A Conference for Families
06/15/13-06/14/14$3,000
Bringing Together Rare Disease: A Conference for Families
06/15/13-06/14/14$4,055

Grabowski, G

Cincinnati Regional Genetics Center
03130011GS031007/01/12-03/31/16$349,000
Improved Diagnosis and Treatment of Pediatric Mood Disorders through Integrated Clinical Genomics
12/01/11-11/30/14$95,210
Cincinnati Center for Excellence in Molecular Hematology
P30 DK 09097107/01/10-06/30/13$63,001

Huang, T

Genetic Studies of Optic Atrophy
R01 EY 01887605/01/13-01/31/14$135,309

Keddache, M

Digestive Health Center - Sequencing Core
U01 DK 06249709/10/09-05/31/14$31,790

Leech, B

Dempster Family Foundation Grant
12/14/12-12/13/13$3,000

Leslie, N

Defining the Natural History of Inborn Errors of Metabolism
R01 HD 06903904/15/11-03/31/16$26,291

Myers, M

Type 2 Diabetes and Social Networks
HHSN268201200237P07/01/12-06/30/14$36,040

Nichols, W

Genetic Analysis of Murine Chronic Hypoxia-Induced Pulmonary Hypertension
R01 HL 10210704/01/10-03/31/14$424,973
National Biological Sample and Data Repository for PAH
R24 HL 10533303/03/12-02/28/17$1,419,428

Prada, C

Use of Serum and Imaging Biomarkers to Evaluate Degree of Myocardial and Coronary Involvement in Patients with Mucopolysaccharidoses
07/01/12-06/30/13$69,444

Stottmann, R

Mechanisms of Craniofacial Defects in Ttc21b Null Mice
07/01/12-06/30/13$10,000
The Role of the Intraflagellar Transport Gene Ttc21b in Neural Ciliopathic Disease
5FY1319402/01/13-01/31/15$67,978
Current Year Direct$2,738,519
Industry Contracts

Burrow, T

$89,144

Grabowski, G

$15,172
$70,703

Hopkin, R

$89,456

Leslie, N

$82,735
$10,400
Current Year Direct Receipts$357,610
Total$3,096,129