Clinical Interests

Lysosomal storage diseases; molecular enzymology; gaucher disease; fabry disease; molecular pathogenesis

Research Interests

Molecular pathogenesis and therapy of human genetic disease

MD: University of Minnesota Medical School, Minneapolis, MN, 1970 to 1974.

Residency: University of Minnesota, Minneapolis, MN, 1974 to 1976.

Fellowship: University of Minnesota, Minneapolis, MN, 1976 to 1979.

Certification: American Board of Pediatrics, 1980; American Board of Medical Genetics; Clinical Genetics, 1987; Clinical Biochemical Genetics, 1987; Clinical Molecular Genetics, 1993.

Xu YH, Sun Y, Barnes S, Grabowski GA. Comparative therapeutic effects of velaglucerase alfa and imiglucerase in a Gaucher disease mouse model. PLoS One. 2010 May 20;5(5):e10750.

Sun Y, Grabowski GA. Impaired autophagosomes and lysosomes in neuronopathic Gaucher disease. Autophagy. 2010 Jul;14:6(5).

Xu YH, Barnes S, Sun Y, Grabowski GA. Multi-system disorders of glycosphingolipid and ganglioside metabolism. J Lipid Res. 2010 Jul;51(7):1643-75.

Sun Y, Liou B, Ran H, Skelton MR, Williams MT, Vorhees CV, Kitatani K, Hannun YA, Witte DP, Xu YH, Grabowski GA. Neuronopathic Gaucher disease in the mouse: viable combined selective saposin C deficiency and mutant glucocerebrosidase (V394L) mice with glucosylsphingosine and glucosylceramide accumulation and progressive neurological deficits. Hum Mol Genet. 2010 Mar 15;19(6):1088-97.

Sun Y, Ran H, Zamzow M, Kitatani K, Skelton MR, Williams MT, Vorhees CV, Witte DP, Hannun YA, Grabowski GA. Specific saposin C deficiency: CNS impairment and acid beta-glucosidase effects in the mouse. Hum Mol Genet. 2010 Feb 15;19(4):634-47.

Sun Y, Liou B, Quinn B, Ran H, Xu YH, Grabowski GA. In vivo and ex vivo evaluation of L-type calcium channel blockers on acid beta-glucosidase in Gaucher disease mouse models.  PLoS One. 2009 Oct 7;4(10):e7320.

Grabowski GA, Kacena K, Cole JA, Hollak CE, Zhang L, Yee J, Mistry PK, Zimran A, Charrow J, vom Dahl S. Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1. Genet Med. 2009 Feb;11(2):92-100.

Liou B, Grabowski GA. Participation of asparagine 370 and glutamine 235 in the catalysis by acid beta-glucosidase: the enzyme deficient in Gaucher disease. Mol Genet Metab. 2009 May;97(1):65-74.

Grabowski GA. Phenotype, diagnosis, and treatment of Gaucher's disease. Lancet. 2008 Oct 4;372(9645):1263-71.

Schorry EK, Keddache M, Lanphear N, Rubinstein JH, Srodulski S, Fletcher D, Blough-Pfau RI, Grabowski GA. Genotype-phenotype correlations in Rubinstein-Taybi syndrome. Am J Med Genet A. 2008 Oct 1;146A(19):2512-9.

MS: University of Cincinnati, Genetic Counseling Program, Cincinnati, OH, 2003.

Certification: American Board of Genetic Counseling, 2005.

Bendik EM, Tinkle BT, Al-shuik E, Levin L, Martin A, Thaler R, Atzinger CL, Rueger J, Martin VT. Joint hypermobility syndrome: A common clinical disorder associated with migraine in women. Cephalalgia. 2011 Apr;31(5):603-13.

Atzinger CL, Meyer RA, Khoury PR, Gao Z, Tinkle BT. Cross-sectional and longitudinal assessment of aortic root dilation and valvular anomalies in hypermobile and classic Ehlers-Danlos syndrome. J Pediatr. 2011 May;158(5):826-830.e1.

McWalter, K, Graham, L, Atzinger, CL. Presented abstracts from the twenty-ninth annual education conference of the national society of genetic counselors. J Genet Couns. 2010;19(6):653-732.

Atzinger CL, Blough-Pfau R, Kretschmer L, Huether CA, Johnson JA, Warren NS. Characterization of the practice and attitudes of genetic counselors with doctoral degrees. J Genet Couns. 2007 Apr;16(2):223-39.

Epigenetics; epigenomics; immunology; T cell memory

BS/MS: Moscow State University, Department of Chemistry, Moscow, Russia, 2000.

PhD: University of Southern California, Los Angeles, CA, 2006.

Fellowship: National Institutes of Health (NIH), National Heart Lung, and Blood Institute (NHLBI), Bethesda, MD, 2011.

Barski A, Chepelev I, Liko D, Cuddapah S, Fleming AB, Birch J, Cui K, White RJ, Zhao K. Pol II and its associated epigenetic marks are present at Pol III-transcribed noncoding RNA genes. Nat Struct Mol Biol. 2010 May;17(5):629-34.

Cuddapah S, Barski A, Zhao K. Epigenomics of T cell activation, differentiation, and memory. Curr Opin Immunol. 2010 Jun;22(3):341-7.

Cuddapah S, Barski A, Cui K, Schones DE, Wang Z, Wei G, Zhao K. Native chromatin preparation and Illumina/Solexa library construction. Cold Spring Harb Protoc. 2009 Jun;2009(6):pdb.prot5237.

Barski A, Jothi R, Cuddapah S, Cui K, Roh TY, Schones DE, Zhao K. Chromatin poises miRNA- and protein-coding genes for expression. Genome Res. 2009 Oct;19(10):1742-51

Barski A, Zhao K. Genomic location analysis by ChIP-Seq. J Cell Biochem. 2009 May 1;107(1):11-8.

Jothi R, Cuddapah S, Barski A, Cui K, Zhao K. Genome-wide identification of in vivo protein-DNA binding sites from ChIP-Seq data. Nucleic Acids Res. 2008 Sep;36(16):5221-31.

Wang Z, Zang C, Rosenfeld JA, Schones DE, Barski A, Cuddapah S, Cui K, Roh TY, Peng W, Zhang MQ, Zhao K. Combinatorial patterns of histone acetylations and methylations in the human genome. Nat Genet. 2008 Jul;40(7):897-903

Schones DE, Cui K, Cuddapah S, Roh TY, Barski A, Wang Z, Wei G, Zhao K. Dynamic regulation of nucleosome positioning in the human genome. Cell. 2008 Mar 7;132(5):887-98.

Barski A, Cuddapah S, Cui K, Roh TY, Schones DE, Wang Z, Wei G, Chepelev I, Zhao K. High-resolution profiling of histone methylations in the human genome. Cell. 2007 May 18;129(4):823-37.

Barski A, Frenkel B. ChIP Display: novel method for identification of genomic targets of transcription factors. Nucleic Acids Res. 2004 Jul 13;32(12):e104.

Clinical Interests

Lysosomal storage diseases; inborn errors of metabolism

Research Interests

Clinical trials; lysosomal storage diseases; biomarkers in gaucher diseases

MD: University of Arkansas for Medical Sciences, Little Rock, AR, 2003.

Residency: Pediatrics and Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 2008.

Fellowship: Medical Biochemical Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 2009.

Certification: Pediatrics, 2007; Clinical Genetics 2009
 

Burrow TA, Bailey LA, Kinnett DG, Hopkin RJ. Acute progression of neuromuscular findings in infantile Pompe disease. Pediatr Neurol. 2010 Jun;42(6):455-8.

Burrow, TA,Saal, HM, deAlarcon, A, Martin, L, Cotton, RT, Hopkin, RJ:  A Characterization of Congenital Anomalies in Individuals with Choanal Atresia.  Arch Otolaryngol Head Neck Surg. 2009;135(6):543-547. 

Burrow TA, Hopkin RJ, Bove KE, Miles L, Wong BL, Choudhary A, Bali D, Li SC, Chen YT: Non-Lethal Congenital Hypotonia Due to Glycogen Storage Disease Type IV. Am J Med Genet A, 2007:140(8):878-82.

Burrow TA, Cohen M, Deutsch G, Bokulic R, Choudhary A, Falcone R, Grabowski GA: Gaucher Disease: Progressive Mesenteric and Mediastinal Lymphadenopathy Despite Enzyme Therapy. J Peds, 2007:150:202-6.

Burrow TA, Bove KE, Grabowski, GA. The Lysosomal Storage Diseases. In: Suchy FJ, Sokol RJ, and Balistreri WF eds, Liver Disease in Children, 3rd ed., Cambridge University Press, New York; 2007:714-735.

Burrow TA, Hopkin, RJ, Leslie, ND, Tinkle, BT, and Grabowski, GA: Enzyme Reconstitution/Replacement Therapy for Lysosomal Storage Diseases. Curr Opin Pediatr, 2007:19:628-635.

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.

Clinical Interests

Fabry disease and other Lysosomal storage disease; craniofacial genetics; clinical intervention for genetic disease; neurofibromatosis; dysmorphology; prenatal diagnosis of genetic syndromes

Research Interests

Fabry disease; Robin Sequence; 22q11 deletion; neurofibromatosis; craniofacial genetics; chromosomal anomalies

MD: University of Nevada Medical School, Reno, NV, 1990.

Residency: Phoenix Children's Hospital, Manicopa Medical Center, Phoenix, AZ, 1993; Phoenix Children's Hospital, Manicopa Medical Center, Phoenix, AZ, 1994.

Fellowship: Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 1997.

Certification: Pediatrics, 1993; Clinical Genetics, 1996.

Tenney JR, Hopkin RJ, Schapiro MB. Deletion of 14-3-3{varepsilon} and CRK: A Clinical Syndrome With Macrocephaly, Developmental Delay, and Generalized Epilepsy.J Child Neurol. 2010 Sep 10.

Burrow TA, Bailey LA, Kinnett DG, Hopkin RJ. Acute progression of neuromuscular findings in infantile Pompe disease. Pediatr Neurol. 2010 Jun;42(6):455-8.

Zarate YA, Martin LJ, Hopkin RJ, Bender PL, Zhang X, Saal HM. Evaluation of growth in patients with isolated cleft lip and/or cleft palate. Pediatrics. 2010 Mar;125(3):e543-9.

Zarate YA, Patterson L, Yin H, Hopkin RJ. A case of minimal change disease in a Fabry patient. Pediatr Nephrol. 2010 Mar;25(3):553-6.

Morris LM, Lim FY, Elluru RG, Hopkin RJ, Jaekle RK, Polzin WJ, Crombleholme TM. Severe micrognathia: indications for EXIT-to-Airway.Fetal Diagn Ther. 2009;26(3):162-6.

Zarate YA, Mena R, Martin LJ, Steele P, Tinkle BT, Hopkin RJ. Experience with hemihyperplasia and Beckwith-Wiedemann syndrome surveillance protocol. Am J Med Genet A. 2009 Aug;149A(8):1691-7.

Burrow TA, Saal HM, de Alarcon A, Martin LJ, Cotton RT, Hopkin RJ. Characterization of congenital anomalies in individuals with choanal atresia. Arch Otolaryngol Head Neck Surg. 2009 Jun;135(6):543-7.

Kenny AP, Crimmins NA, Mackay DJ, Hopkin RJ, Bove KE, Leonis MA. Concurrent course of transient neonatal diabetes with cholestasis and paucity of interlobular bile ducts: a case report. Pediatr Dev Pathol. 2009 Sep-Oct;12(5):417-20.

Zarate YA, Pacheco MC, Bove KE, Gorlin R, Zhao H, Hopkin RJ. Phenotypic and microscopic description of a new case of Ermine phenotype. Am J Med Genet A. 2009 Jun;149A(6):1253-6.

Guimaraes CV, Linam LE, Kline-Fath BM, Donnelly LF, Calvo-Garcia MA, Rubio EI, Livingston JC, Hopkin RJ, Peach E, Lim FY, Crombleholme TM. Prenatal MRI findings of fetuses with congenital high airway obstruction sequence.Korean J Radiol. 2009 Mar-Apr;10(2):129-34.

BS: Psychology, Miami University, Oxford, Ohio, 2000.

MS: Medical Genetics, University of Cincinnati, Cincinnati, Ohio, 2004.

Certification: American Board of Genetic Counseling, 2005.
 

PhD: The University of Texas Southwestern Medical Center, Dallas TX.

Komurov K, Ram PT. Patterns of human gene expression variance show strong associations with signaling network hierarchy. BMC Syst Biol. 2010 Nov 12;4:154.

Komurov K, White MA, Ram PT. Use of data-biased random walks on graphs for the retrieval of context-specific networks from genomic data. PLoS Comput Biol. 2010 Aug 19;6(8).

Taube JH*, Herschkowitz JI*, Komurov K*, Zhou AY, Gupta S, Yang J, Hartwell K, Onder TT, Gupta PB, Evans KW, Hollier BG, Ram PT, Lander ES, Rosen JM, Weinberg RA, Mani SA. Core epithelial-to-mesenchymal transition interactome gene-expression signature is associated with claudin-low and metaplastic breast cancer subtypes. Proc Natl Acad Sci U S A. 2010 Aug 31;107(35):15449-54. (*Co-first author)

Komurov K, Padron D, Cheng T, Roth M, Rosenblatt KP, White MA. Comprehensive mapping of the human kinome to epidermal growth factor receptor signaling. J Biol Chem. 2010 Jul 2;285(27):21134-42.

Komurov K, Gunes MH, White MA. Fine-scale dissection of functional protein network organization by statistical network analysis. PLoS One. 2009 Jun 24;4(6):e6017.

Komurov K, White M. Revealing static and dynamic modular architecture of the eukaryotic protein interaction network. Mol Syst Biol. 2007;3:110.

Clinical Interests

Galactosemia; PKU; inborn errors; newborn screening; lysosomal storage disease

Research Interests

Focus on inborn errors of metabolism, with an emphasis on long term outcome in PKU and in the molecular biology of galactosemia

MD: Washington University, St. Louis, MO, 1975 to 1979. 

Internship and Residency: University of Cincinnati College of Medicine, Cincinnati, OH.

Fellowship: Pediatric Endocrinology, Cincinnati Children's Hospital Medical Center,OH, 1982 to 1985; Clinical Genetics and Clinical Biochemical Genetics, Cincinnati Children's Hospital Medical Center, OH, 1993 to 1995.

Certification: American Board of Pediatrics, 1986; American Board of Pediatrics, Sub-Board of Pediatric Endocrinology, 1989; American Board of Medical Genetics, Board-Certified in Clinical Genetics and Clinical Biochemical Genetics, 1996, Active in MOC.

Slaughter JL, Meinzen-Derr J, Rose SR, Leslie ND, Chandrasekar R, Linard SM, Akinbi HT. The effects of gestational age and birth weight on false-positive newborn-screening rates.Pediatrics. 2010 Nov;126(5):910-6.

Dalal P, Leslie ND, Lindor NM, Gilbert DL, Espay AJ. Motor tics, stereotypies, and self-flagellation in primrose syndrome.Neurology. 2010 Jul 20;75(3):284-6.

Gilbert DL, Leslie EJ, Keddache M, Leslie ND. A novel hereditary spastic paraplegia with dystonia linked to chromosome 2q24-2q31.Mov Disord. 2009 Feb 15;24(3):364-70.

Burrow TA, Leslie ND. Review of the use of idursulfase in the treatment of mucopolysaccharidosis II.Biologics. 2008 Jun;2(2):311-20.

Burrow TA, Hopkin RJ, Leslie ND, Tinkle BT, Grabowski GA. Enzyme reconstitution/replacement therapy for lysosomal storage diseases.Curr Opin Pediatr. 2007 Dec;19(6):628-35. Review.

Halperin, J., Devi,  SY, Elizure, S, Stocco, C, Shehu, A, Rebourcet, D, Unterman, TG, Leslie, ND, Le, J, Binart N, Gibori, G. Prolactin signaling through the Short form of Its Receptor Represses Forkhead Transcription Factor FOXO3 and its Target Gene GALT Causing a Severe Ovarian Defect. Molecular Endocrinology. 2008 22:513-22.

Leslie, ND.  Inborn errors and Pediatric Critical Care. In Wheeler, D. ed.  Pediatric Critical Care Medicine: Basic Science and Clinical Evidence. Springer 2007. 

Tinkle, B and Leslie, N.D. Pompe Disease. Gene Clinics.  2007.

Grabowski, GA, Hopkin, RJ, Burrow, RA, Leslie, ND, Tinkle, BT. Enzyme Reconstitution/Replacement Therapy for Lysosomal Storage Diseases. Current Opinion in Pediatrics. 2007 19:628-35.

Kishnani, PS, Corzo, D., Nicolino, M, Byrne, B, Mandel, H, Hwu, W., Leslie, N., Levine, J, Spencer, C., McDonald, M., DuMontier, J, Michael, H, Chien, Y., Hopkin, R., Vijayaraghavan, S., Bruskin, D., Barholomew, D, van der Ploeg, A., Clancy, J., Prarin, R., Morin, G, Beck, N., Delagastine, G., Jokin, M., Thurberg, B., Richards, S., Bali, D., Davison, M., Worden, MA, Chen, YT, Wraith, JE.  Recombinant Human Acid -Alpha Glucosidase:  Major Clinical Benefits in Infantile-Onset Pompe Disease.  Neurology. 2007 68(2):99-109.

Evaluating family health history as a health promotion and disease prevention tool; direct-to-consumer marketing of genetic testing; and outcomes research in genetic counseling

MS: Genetic Counseling, The University of Cincinnati, Cincinnati, OH, 1990-1992.

PhD: The Johns Hopkins School of Hygiene and Public Health, Baltimore, MD, 1995-2000.

Fellowship: Epidemic Intelligence Service Officer, Centers for Disease Control and Prevention, 2000-2002.

Certification: Genetic Counseling, 1993.

Au MG, Cornett SJ, Nick TG, Wallace J, Wang Y, Warren NS, Myers MF. Familial risk for chronic disease and intent to share family history with a health care provider among urban Appalachian women, southwestern Ohio, 2007. Prev Chronic Dis. 2010 Jan;7(1):A07.

Fuller M, Myers MF, Webb T, Tabangin M, Prows C. Primary Care Providers' Responses to Patient-Generated Family History. J Genet Couns. 2010 19:84-96.

Cragun RT, Woltanski AR, Myers, MF, Cragun DL. Genetic counselors' religiosity & spirituality: Are genetic counselors different from the general population?J Genet Couns. 2009 18:551–566.

Cree RA, Lynch J, Au MG, Myers MF. Decisions to seek healthcare based on family health history among urban Appalachian women.J Genet Couns. 2009 Dec;18(6):534-50.

Bowen DJ, Harris J, Jorgensen CM, Myers MF, Kuniyuki A. Socioeconomic influences on the effects of a genetic testing Direct-to-Consumer Marketing Campaign. Public Health Genomics. 2009 13:131-142.

Wallace JP, Baugh C, Cornett S, Hood B, Prows CA, Ryan N, Warren NS, Au MG, Brown MK, Glandorf K, Jarrell JL, Nolan TL, Sorrell J, Walters J, Myers MF. A Family History Demonstration Project among Women in an Urban Appalachian Community. Progress in Community Health Partnerships. 2009 3(2):155-164.

Woltanski AR, Cragun RT. Myers MF, Cragun DL. Views on Abortion: A Comparison of Female Genetic Counselors and Women from the General Population. J Genet Couns. 2009 18(1):28-41.

Bowling, BV, Huether CA, Wang L, Myers MF, Markle GC, Dean GE, Acra EE, Wray FP, Jacob GA. Genetic Literacy of Undergraduate Non-Science Majors and the Impact of Introductory Biology and Genetics Courses.BioScience. 2008 58(7):654-660.

Bowling BV, Acra EE, Wang L, Myers MF, Dean GE, Markle GC, Moskalik CL, Huether CA. Development and evaluation of a genetics literacy assessment instrument for undergraduates. Genetics. 2008 Jan;178(1):15-22.

Wallace JP, Myers MF, Huether CA, Bedard AC, Warren NS. Employability of genetic counselors with a PhD in genetic counseling. J Genet Couns. 2008 Jun;17(3):209-19.

MD: Oregon Health Sciences University, 1998.

BA: Biology, Johns Hopkins University, 1993.

Izumi K, Takagi M, Parikh AS, Hahn A, Miskovsky SN, Nishimura G, Torii C, Kosaki K, Hasegawa T, Neilson DE. Late manifestations of tricho-rhino-pharangeal syndrome in a patient: Expanded skeletal phenotype in adulthood.Am J Med Genet A. 2010 Aug;152A(8):2115-9.

Marco EJ, Anderson JE, Neilson DE, Strober JB. Acute necrotizing encephalopathy in 3 brothers. Pediatrics. 2010 Mar;125(3):e693-8.

Gika AD, Rich P, Gupta S, Neilson DE, Clarke A. Recurrent acute necrotizing encephalopathy following influenza A in a genetically predisposed family.Dev Med Child Neurol. 2010 Jan;52(1):99-102.

López-Laso E, Mateos-González ME, Pérez-Navero JL, Camino-León R, Briones P, Neilson DE. [Infection-triggered familial or recurrent acute necrotizing encephalopathy]. An Pediatr (Barc). 2009 Sep;71(3):235-9.

Neilson DE, Adams MD, Orr CM, Schelling DK, Eiben RM, Kerr DS, Anderson J, Bassuk AG, Bye AM, Childs AM, Clarke A, Crow YJ, Di Rocco M, Dohna-Schwake C, Dueckers G, Fasano AE, Gika AD, Gionnis D, Gorman MP, Grattan-Smith PJ, Hackenberg A, Kuster A, Lentschig MG, Lopez-Laso E, Marco EJ, Mastroyianni S, Perrier J, Schmitt-Mechelke T, Servidei S, Skardoutsou A, Uldall P, van der Knaap MS, Goglin KC, Tefft DL, Aubin C, de Jager P, Hafler D, Warman ML. Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2.Am J Hum Genet. 2009 Jan;84(1):44-51.

Neilson DE, Adams MD, Orr CMD, Schelling DK, Eiben RM, Kerr DS, Bye AM, Childs AM, Clarke A, Crow YC, Gika AD, Grattan-Smith PJ, Schmitt-Mechelke T, Uldall P ,van der Knaap MS, Trevarthen KC, Tefft DL, Warman ML. A recurrent mutation in a nuclear pore protein predisposes to acute necrotizing encephalopathy. Submitted 2008.

Falk MJ, Feiler HS, Neilson DE, Maxwell K, Lee JV, Segall SK, Robin NH, Wilhelmsen KC, Träskelin AL, Kolehmainen J, Lehesjoki AE, Wiznitzer M, Warman ML. Cohen syndrome in the Ohio Amish.Am J Med Genet A. 2004 Jul 1;128A(1):23-8.

Neilson DE, Feiler HS, Wilhelmsen KC, Lynn A, Eiben RM, Kerr DS, Warman ML. Autosomal dominant acute necrotizing encephalopathy maps to 2q12.1-2q13. Ann Neurol. 2004 Feb;55(2):291-4.

Neilson DE, Eiben RM, Waniewski S, Hoppel CL, Varnes ME, Bangert BA, Wiznitzer M, Warman ML, Kerr DS. Autosomal dominant acute necrotizing encephalopathy. Neurology. 2003 Jul 22;61(2):226-30.

Neilson DE, Brunger JW, Heeger S, Bamshad M, Robin NH. Mixed clefting type in Rapp-Hodgkin syndrome. Am J Med Genet. 2002 Apr 1;108(4):281-4.

BS Biology: University of Cincinnati, 1983.

BS Pharmacy: University of Cincinnati, 1988.

PhD Pharmaceutical Sciences: University of Cincinnati, 1995.

Prows DR, Winterberg AV, Gibbons WJ Jr, Burzynski BB, Liu C, Nick TG. Reciprocal backcross mice confirm major loci linked to hyperoxic acute lung injury survival time.Physiol Genomics. 2009 Jul 9;38(2):158-68.

Glasser SW, Witt TL, Senft AP, Baatz JE, Folger D, Maxfield MD, Akinbi HT, Newton DA, Prows DR, Korfhagen TR. Surfactant protein C-deficient mice are susceptible to respiratory syncytial virus infection.Am J Physiol Lung Cell Mol Physiol. 2009 Jul;297(1):L64-72.

Glasser SW, Senft AP, Whitsett JA, Maxfield MD, Ross GF, Richardson TR, Prows DR, Xu Y, Korfhagen TR. Macrophage dysfunction and susceptibility to pulmonary Pseudomonas aeruginosa infection in surfactant protein C-deficient mice.J Immunol. 2008 Jul 1;181(1):621-8.

Prows DR, Hafertepen AP, Winterberg AV, Gibbons WJ Jr, Wesselkamper SC, Singer JB, Hill AE, Nadeau JH, Leikauf GD. Reciprocal congenic lines of mice capture the aliq1 effect on acute lung injury survival time.Am J Respir Cell Mol Biol. 2008 Jan;38(1):68-77.

Prows DR, Hafertepen AP, Winterberg AV, Gibbons WJ Jr, Liu C, Nick TG. Genetic analysis of hyperoxic acute lung injury survival in reciprocal intercross mice. Physiol Genomics. 2007 Aug 20;30(3):271-81.

Prows DR, Hafertepen AP, Gibbons WJ Jr, Winterberg AV, Nick TG. A genetic mouse model to investigate hyperoxic acute lung injury survival. Physiol Genomics. 2007 Aug 20;30(3):262-70.

Wesselkamper SC, McDowell SA, Medvedovic M, Dalton TP, Deshmukh HS, Sartor MA, Case LM, Henning LN, Borchers MT, Tomlinson CR, Prows DR, Leikauf GD. The role of metallothionein in the pathogenesis of acute lung injury.Am J Respir Cell Mol Biol. 2006 Jan;34(1):73-82.

Prows CA, Prows DR. Medication selection by genotype: How genetics is changing drug prescribing and efficacy.Am J Nurs. 2004 May;104(5):60-70; quiz 71. Review.

Prows DR, McDowell SA, Aronow BJ, Leikauf GD. Genetic susceptibility to nickel-induced acute lung injury.Chemosphere. 2003 Jun;51(10):1139-48.

McDowell SA, Gammon K, Zingarelli B, Bachurski CJ, Aronow BJ, Prows DR, Leikauf GD. Inhibition of nitric oxide restores surfactant gene expression following nickel-induced acute lung injury.Am J Respir Cell Mol Biol. 2003 Feb;28(2):188-98.

Clinical Interests

Craniofacial disorders, community genetics, growth disorders

Research Interests

Clinical and research interests in genetic etiologies and natural histories of craniofacial disorders and new syndrome delineation

MD: Wayne State University, Detroit, MI, 1975-1979.

Internship: University of Connecticut Integrated Program in Pediatrics, Farmington, CT, 1979-1980.

Residency: University of Connecticut Integrated Program in Pediatrics, Farmington, CT, 1980-1982.

Fellowship: University of Washington School of Medicine Division of Medical Genetics, Seattle, WA, 1982-1984.

Certification: American Board of Medical Genetics in Cytogenetics and Clinical Genetics, 1984; American Board of Pediatrics, 1985.

Zarate YA, Putnam PE, Saal HM. Intestinal malrotation in a patient with pfeiffer syndrome type 2. Cleft Palate Craniofac J. 2010 Nov;47(6):638-41. Epub 2010 Feb 28.

Zarate YA, Martin LJ, Hopkin RJ, Bender PL, Zhang X, Saal HM. Evaluation of growth in patients with isolated cleft lip and/or cleft palate. Pediatrics. 2010 Mar;125(3):e543-9.

Knapke SC, Bender P, Prows C, Schultz JR, Saal HM. Parental perspectives of children born with cleft lip and/or palate: a qualitative assessment of suggestions for healthcare improvements and interventions. Cleft Palate Craniofac J. 2010 Mar;47(2):143-50.

Burrow TA, Saal HM, de Alarcon A, Martin LJ, Cotton RT, Hopkin RJ. Characterization of congenital anomalies in individuals with choanal atresia. Arch Otolaryngol Head Neck Surg. 2009 Jun;135(6):543-7.

Baboiu O, Collins M, Saal HM. Hepatic mesenchymal hamartoma: cytogenetic analysis of a case and review of the literature.  Pediatric Pathology 2008 Jul-Aug;11(4):295-299.

Kogan JM, Egelhoff JC, Saal HM, Interstitial deletion of 13q associated with polymicrogyria. Am J Med Genet 2008;146A(7):910-916.

Kotsopoulos J, Lubinski J, Lynch HT, Klijn J, Ghadirian P, Neuhausen SL, Kim-Sing C, Foulkes WD, Moller P, Isaacs C, Domchek S, Randall S, Offit K, Tung N, Ainsworth P, Gershoni-Baruch R, Eisen A, Daly M, Karlan B, Saal HM, Couch F, Pasini B, Wagner T, Friedman E, Rennert G, Eng C, Weitzel J, Sun P, Narod SA; The Hereditary Breast Cancer Clinical Study Group. Age at first birth and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers.  Breast Cancer Res Treat 2007;10(2)5:221-228.

Friedman, E, Kotsopoulos, J, Lubinski, J, Lynch, HT, Paviz, G, Neuhausen, SL, Isaacs, C, Weber, B, Foulkes, WD, Moller, P, Rosen, B, Kim-Sing, C, Gershoni-Baruch, R, Ainsworth, P, Daly, M, Tung, N, Eisen, A, Olopade, OI, Karlan, B, Saal, HM, Garber, JE, Rennert, G, Gilchrist, D, Eng, C, Offit, K, Osborne, M, Sun, P, Narod, SA. Spontaneous and therapeutic abortions and the risk of breast cancer among BRCA mutation carriers.Breast Cancer Res. 2006;8(2):R15.

Gronwald, J, Tung, N, Offit, K, Gershoni, R, Daly, M, Kim-Sing, C, Olsson, H, Ainsworth, P, Eisen, A,
Saal, H, Friedman, E, Olopade, O, Osborne, M, Weitzel, J, Lynch, H, Ghadirian, P, Lubinski, J, Sun P, Narod, SA al. (2006). Tamoxifen and contralateral breast cancer in BRCA1 and BRCA2 carriers: an update. Int J Cancer. 2006;118(9): 2281-4.

Management of multidisciplinary craniofacial services

MS: University of Michigan, Ann Arbor, Mich., 1977.

BS: University of Michigan, Ann Arbor, Mich., 1975.

Licensure: Registered Dental Hygenist, 1974

Clinical Interests

Genetic disorders; congenital anomalies; neurofibromatosis; tuberous sclerosis; bone disease in neurofibromatosis

Research Interests

History of bone complications of neurofibromatosis type 1 (NF1); learning and behavioral problems in NF1; and drug trials for plexiform neurofibromas and other NF-related tumors.

BS: Biology, University of Cincinnati, Cincinnati, OH, 1977.

MD: University of Michigan, Ann Arbor, MI, 1982.

Residency: Pediatrics, Children's Hospital Medical Center, Cincinnati, OH, 1982-1985.

Fellowship: Genetics, Children's Hospital Medical Center, Cincinnati, OH, 1985-1988.

Certification: American Board of Pediatrics, 1987; Clinical Genetics, American Board of Medical Genetics, 1987.

Prada CE, Zarate YA, Hagenbuch S, Lovell A, Schorry EK, Hopkin RJ. Lethal presentation of neurofibromatosis and Noonan syndrome. Am J Med Genet A. 2011 Jun;155A(6):1360-6.

Rieley MB, Stevenson DA, Viskochil DH, Tinkle BT, Martin LJ, Schorry EK. Variable expression of neurofibromatosis 1 in monozygotic twins. Am J Med Genet A. 2011 Mar;155A(3):478-85.

Huson SM, Acosta MT, Belzberg AJ, Bernards A, Chernoff J, Cichowski K, Gareth Evans D, Ferner RE, Giovannini M, Korf BR, Listernick R, North KN, Packer RJ, Parada LF, Peltonen J, Ramesh V, Reilly KM, Risner JW, Schorry EK, Upadhyaya M, Viskochil DH, Zhu Y, Hunter-Schaedle K, Giancotti FG. Back to the future: proceedings from the 2010 NF Conference. Am J Med Genet A. 2011 Feb;155(2):307-21.

Hummel TR, Jessen WJ, Miller SJ, Kluwe L, Mautner VF, Wallace MR, Lázaro C, Page GP, Worley PF, Aronow BJ, Schorry EK, Ratner N. Gene expression analysis identifies potential biomarkers of neurofibromatosis type 1 including adrenomedullin. Clin Cancer Res. 2010 Oct 15;16(20):5048-57.

Stevenson DA, Viskochil DH, Carey JC, Slater H, Murray M, Sheng X, D'Astous J, Hanson H, Schorry E, Moyer-Mileur LJ. Tibial geometry in individuals with neurofibromatosis type 1 without anterolateral bowing of the lower leg using peripheral quantitative computed tomography.Bone. 2009 Apr;44(4):585-9.

Elefteriou F, Kolanczyk M, Schindeler A, Viskochil DH, Hock JM, Schorry EK, Crawford AH, Friedman JM, Little D, Peltonen J, Carey JC, Feldman D, Yu X, Armstrong L, Birch P, Kendler DL, Mundlos S, Yang FC, Agiostratidou G, Hunter-Schaedle K, Stevenson DA. Skeletal abnormalities in neurofibromatosis type 1: approaches to therapeutic options. Am J Med Genet A. 2009 Oct;149A(10):2327-38.

Schorry EK, Keddache M, Lanphear N, Rubinstein JH, Srodulski S, Fletcher D, Blough-Pfau RI, Grabowski GA. Genotype-phenotype correlations in Rubinstein-Taybi syndrome. Am J Med Genet A. 2008 Oct 1;146A(19):2512-9.

Crawford AH, Parikh S, Schorry EK, Von Stein D. The immature spine in type-1 neurofibromatosis. J Bone Joint Surg Am. 2007 Feb;89 Suppl 1:123-42.

Zarate YA, Kogan JM, Schorry EK, Smolarek TA, Hopkin RJ. A new case of de novo 11q duplication in a patient with normal development and intelligence and review of the literature. Am J Med Genet A. 2007 Feb 1;143(3):265-70.

Tinkle BT, Miller E, Schorry EK. Gene symbol: COL1A2. Disease: osteogenesis imperfecta type II. Hum Genet. 2006 Jul;119(6):677.

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.

Clinical Interests

Connective tissue disorders and skeletal dysplasia; interventional genetics; molecular genetics

Research Interests

Management of connective tissue disorders; natural history of Ehlers-Danlos syndrome; clinical trials; discovery of new causative genes in connective tissue disorders 

PhD: George Washington University, Washington, DC, 1995.

MD: Indiana University, Indianapolis, IN, 1999.

Residency: Pediatrics / Human Genetics, Cincinnati Children's Hospital Medical Center, University of Cincinnati, 2004.

Fellowship: Clinical Molecular Genetics, Cincinnati Children's Hospital Medical Center, 2006.

Certification: Pediatrics, 2003; Clinical Genetics, 2005; Clinical Molecular Genetics, 2007.

Bendik EM, Tinkle BT, Al-Shuik E, Levin L, Martin A, Thaler R, Atzinger CL, Rueger J, Martin VT. Joint hypermobility syndrome: A common clinical disorder associated with migraine in women. Cephalalgia. 2011 Feb 2.

Sun GH, Samy RN, Tinkle BT, Cornelius RS, Brown DK. Craniometaphyseal dysplasia-induced hearing loss. Otol Neurotol. 2011 Feb;32(2):e9-10. 

Atzinger CL, Meyer RA, Khoury PR, Gao Z, Tinkle BT. Cross-Sectional and Longitudinal Assessment of Aortic Root Dilation and Valvular Anomalies in Hypermobile and Classic Ehlers-Danlos Syndrome. J Pediatr. 2010 Dec 28. 

Z Yazici, B Kline-Fath, T Laor,BT Tinkle.  Fetal MR imaging of Kniest dysplasia.  Pediatr Radiol. 2010 Mar;40(3):348-52.

Tinkle BT,Bird HA, Grahame R, Lavallee M, Levy HP, Sillence D. The lack of clinical distinction between the hypermobility type of Ehlers-Danlos syndrome and the joint hypermobility syndrome (a.k.a. hypermobility syndrome). Am J Med Genet. 2009 Nov;149A(11):2368-70.  

 Zarate YA, Mena R, Martin LJ, Steele P, Tinkle BT, Hopkin RJ. Experience with hemihyperplasia and Beckwith-Wiedemann syndrome surveillance protocol. Am J Med Genet A. 2009 Aug;149A(8):1691-7.

M Ednick, BT Tinkle, J Phromchairak, J Egelhoff, R Amin, N Simakajornboon. Sleep-related respiratory abnormalities and arousal pattern in achondroplasia during early infancy period. J Pediatr. 2009;155(4):510-5.

Mattheis PJ, Hickey F, Tinkle BT, Hopkin R:  Prenatal diagnosis: beyond decisions about termination. J Pediatr. 2008 Nov;153(5):728.

Burrow TA, Hopkin RJ, Leslie ND, Tinkle BT, Grabowski GA. Enzyme reconstitution/replacement therapy for lysosomal storage diseases. Curr Opin Pediatr. 2007 Dec;19(6):628-35.

Sutherell J, Zarate Y, Tinkle BT, Markham LW, Cripe LH, Hyland JC, Witte D, Hopkin RJ, Hinton RB. Novel fibrillin 1 mutation in a case of neonatal Marfan syndrome: the increasing importance of early recognition. Congenit Heart Dis. 2007 Sep;2(5):342-6. 

Clinical genetics; cardiovascular genetics; cardiomyopathy; cardiovascular development

MD, PhD: University of Cincinnati College of Medicine, Cincinnati, OH,1997.

Residency: Pediatrics, Baylor College of Medicine, 2002.

Fellowship: Medical Genetics, Baylor College of Medicine, 2002.

American Board of Pediatrics, 2000, 2007.

American Board of Medical Genetics in Clinical Genetics, 2002.

Tariq M, Belmont JW, Lalani S, Smolarek T, Ware SM. SHROOM3 is a novel candidate for heterotaxy identified by whole exome sequencing. Genome Biol. 2012. Epub ahead of print.

Bedard JEJ, Haaning AM, Ware SM. Identification of a novel ZIC3 isoform and mutation screening in patients with heterotaxy and congenital heart disease patients. PLoS One. 2011;6(8):e23755.

Czosek RJ, Haaning A, Ware SM. A mouse model of conduction system patterning abnormalities in heterotaxy syndrome. Pediatr Res. 2010;68:275-280.

Sutherland M, Ware SM. Disorders of left-right asymmetry: heterotaxy and situs inversus. Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):307-17.

Ware SM*, El-Hassan N, Kahler SG, Zhang Q, Ma Y-M, Miller E, Wong B, Spicer RL, Craigen WJ, Kozel BA, Grange DK, Wong L-J. Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes. J Med Genet. 2009;46: 308-314.  *corresponding author

Kogan JM, Miller E, Ware SM. High resolution SNP based microarray mapping of mosaic supernumerary marker chromosomes 13 and 17: delineating novel loci for apraxia. Am J Med Genet. 2009;149A: 887-893.

Mohapatra B, Casey B, Li H, Ho-Dawson T, Smith L, Fernbach SD, Molinari L, Niesh SR, Jefferies JL, Craigen WJ, Towbin JA, Belmont JW, Ware SM. Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations. Hum Mol Genet. 2009;18: 861-871.

Ware SM*, Quinn M, Ballard ET, Miller E, Uzark K, Spicer RL. Pediatric restrictive cardiomyopathy associated with a mutation in beta-myosin heavy chain. Clin Genet. 2008;73: 165-170.         *corresponding author 

Bedard JEJ, Purnell JD, Ware SM. Nuclear import and export signals are essential for proper cellular trafficking and function of ZIC3. Hum Mol Genet. 2007;16: 187-198.

Ware SM, Harutyunyan KG, Belmont JW. Heart defects in X linked heterotaxy: evidence for a genetic interaction of Zic3 with the Nodal signaling pathway. Dev Dyn. 2006 Jun;235:1631-1637.

Gaucher disease; lysosomal storage diseases; treatment for genetic diseases

Treatment of lysosomal storage diseases

MS: University of Cincinnati; Cincinnati, OH, 1995.

BA: Miami University, Oxford, OH, 1993.

Certification: Medical Genetics and Genetic Counseling, 1996.

Lysosomal storage diseases

BS: University of Connecticut, Storrs, CT 1994.

MS: Brandeis University, Waltham, MA 1998.

Certification: Board Certified by the American Board of Genetic Counseling 1999.

Prenatal; general genetics; Metabolic; Huntington Disease

 

MS: Sarah Lawrence College, Bronxville, NY.

Certification: American Board of Genetic Counseling, 2007.

MS: Indiana University, Indianapolis, IN, 2010.
American Board of Genetic Counseling, 2011.

BS: Genetics: Purdue University, West Lafayette, IN, 2005.

MS: Genetic Counseling: Case Western Reserve University, Cleveland, OH, 2009.

MS: Biology, Universtiy of Cincinnati, 2006.

MS: Medical Genetics, Universtiy of Cincinnati, 2008.

Certification: Genetic Counselor; American Board of Genetic Counselors, 2009.

Mundt E, Bates MB. Genetics of Hirschsprung disease and anorectal malformations. Semin Pediatr Surg. 2010 May;19(2):107-17.

Bowling BV, Acra EE, Wang L, Myers MF, Dean GE, Markle GC, Moskalik CL, Huether CA. Development and evaluation of a genetics literacy assessment instrument for undergraduates. Genetics. 2008 Jan;178(1):15-22.

Bowling BV, Huether CA, Wang L, Myers MF, Markle GC, Dean GE, Acra EE, Wray FP, Jacob GA. Genetic literacy of undergraduate non-science majors and the impact of introductory biology and genetics courses. BioScience. 2008;58(7):654-60.

Bowling BV, Acra EE, Wang L, Myers MF, Dean GE, Markle GC, Moskalik CL, Huether CA. Development and evaluation of a genetics literacy assessment instrument for undergraduates. Genetics. 2008 Jan;178(1):15-22.

MS: Genetic Counseling, Indiana University, Indianapolis, IN, 2009.

Certification: Genetic Counselor; American Board of Genetic Counselors, 2010. 

MS: Genetic Counseling, University of North Carolina at Greensboro, Greensboro, NC, 2009.

BS: Molecular Biology, Ohio Northern University, Ada, OH, 2007.

MS: Medical Genetics, University of Cincinnati, Cincinnati, OH, 2008.

BA: Behavioral Biology, Johns Hopkins University, Baltimore, MD, 1989.

PhD: Molecular and Developmental Biology, University of Cincinnati, Cincinnati, OH, 2009.

MS: Genetic Counseling, University of Cincinnati, Cincinnati, OH, 2009.

BS: Biology, Eckerd College, St. Petersburg, FL, 2002.

Lipscomb Sund K, Roelke S, Ramachandran V, Durbin L, Benson DW. Analysis of Ellis van Creveld syndrome gene products; Implications for cardiovascular development and disease. Human Molecular Genetics. 2009 May;18(10):1813-1824.

Lipscomb K, Schmitt C, Sablyak A, Yoder J, Nascone-Yoder N. Role for retinoid signaling in left-right asymmetric digestive organ morphogenesis, Dev Dyn. 2006 Aug; 235(8):2266-2275.

Book Chapters

Lipscomb Sund K, Rame Gowda S, Benson DW. Adults with congenital heart disease: A genetic perspective. In Gatzoulis MA, Webb GD, and Daubeney PEF (eds) Adult Congenital Heart Disease. New York: Elseiver, 2009.

Prenatal and preconception genetic counseling; psychosocial needs of genetic counseling patients; sex chromosome abnormalities

MS: University of Cincinnati, Cincinnati, OH, 1990.

Certification: Genetic Counseling, American Board of Medical Genetics, 1990.

El-Hattab AW, Smolarek TA, Walker ME, Schorry EK, Immken LL, Patel G, Abbott MA, Lanpher BC, Ou Z, Kang SH, Patel A, Scaglia F, Lupski JR, Cheung SW, Stankiewicz P. Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping. Hum Genet. 2009;126(4):589-602.

Edge K, Benson DW, Beery T, Walker ME. Advanced Paternal Age: A Lesser Known Genetic Risk with Potential Clinical Utility. J Genet Couns. 2008;17:619.

Vieira V, Staat, MA, Hopkin RJ, Hicks K, Walker ME. Retrospective analysis of the prevalence of genetic conditions and birth defects in international adoptees. J Genet Couns. 2007;16(6):681.

Krepkovich K, Walker M, Acton J, Joseph P, Simon R. Transition to adult care and awareness of genetic counseling: Perceptions of cystic fibrosis patients and parents. J Genet Couns. 2007;16(1):3.

Bradshaw RJ, Walker ME, Goody C, and Warren NS. Training and attitudes of recent graduates regarding the provision of culturally competent genetic counseling services to Latinos. J Genet Couns. 2004;13(6):495.

Tinkle BT, Walker ME, Blough-Pfau RI, Saal HM, and Hopkin RJ. Unexpected survival in a case of prenatally diagnosed non-mosaic trisomy 22: Clinical report and review of the natural history. Am J Med Genet. 2003;1118A:90-95.

Walker ME, Hopkin RJ, and Saal HM. Perinatal hospice: Recent experience with prenatal diagnosis of lethal abnormalities. J Genetic Couns. 2000;9(6):474.

Book Chapters

Walker ME. Prenatal Diagnosis. In Marlene Lutkenhoff (Ed.) Children with Spina Bifida. 2nd ed. Bethesda, MD: Woodbine House, 2007.

MS: University of Cincinnati, Cincinnati, OH.

Pediatrics; neurofibromatosis; bioethics

BSN: St. Xavier College School of Nursing, Chicago, IL., 1969.

MSN: University of Cincinnati College of Nursing and Health, Cincinnati, OH, 1989. 

Credentials: Ohio Board of Nursing, RN and APN certification (Clinical Nurse Specialist); National Board of Pediatric Nurse Practitioners and Nurses (NAPNAP); Nursing Child Assessment Satellite Training Programs (NCAST).

Prows CA, Hetteberg C, Johnsno N, Latta K, Lovell AM, Saal H, Warren NS. Outcomes of a genetics education program for nuring faculty. Nursing Education Perspectives. 2003 24(2):81-85.

Sebold CD, Lovell A, Hopkin R, Noll R, Schorry E. Perception of disease severity in adolescents diagnosed with neurofibromatosis type 1. J Adol Health. 2004;35(4):297-302.

Book Chapters

Lovell AM. Ethical Issues in the Care of Neonates and Infants. In Conversations in Ethics in Nursing, Vicki Lachman (Ed.). Springer Publications.