View PubMed Publications 

Barnes MG, Grom AA, Thompson SD, Griffin TA, Pavlidis P, Itert L, et al. Subtype-specific peripheral blood gene expression profiles in recent-onset juvenile idiopathic arthritis. Arthritis and rheumatism. 2009 Jul;60(7):2102-12.

Qu XA, Gudivada RC, Jegga AG, Neumann EK, Aronow BJ. Inferring novel disease indications for known drugs by semantically linking drug action and disease mechanism relationships. BMC Bioinformatics. 2009 May;10 Suppl 5:S4.

Gu Y, Harley IT, Henderson LB, Aronow BJ, Vietor I, Huber LA, et al. Identification of IFRD1 as a modifier gene for cystic fibrosis lung disease. Nature. 2009 Apr 23;458(7241):1039-42.

Nishijo K, Chen QR, Zhang L, McCleish AT, Rodriguez A, Cho MJ, et al. Credentialing a preclinical mouse model of alveolar rhabdomyosarcoma. Cancer Res. 2009 Apr 1;69(7):2902-11.

Chen J, Aronow BJ, Jegga AG. Disease candidate gene identification and prioritization using protein interaction networks. BMC Bioinformatics. 2009 Feb;10:73.

Shen H, Powers N, Saini N, Comstock CE, Sharma A, Weaver K, et al. The SWI/SNF ATPase Brm is a gatekeeper of proliferative control in prostate cancer. Cancer Res. 2008 Dec 15;68(24):10154-62.

Brunskill EW, Aronow BJ, Georgas K, Rumballe B, Valerius MT, Aronow J, et al. Atlas of gene expression in the developing kidney at microanatomic resolution. Developmental cell. 2008 Nov;15(5):781-91.

Mahller YY, Sakthivel B, Baird WH, Aronow BJ, Hsu YH, Cripe TP, et al. Molecular analysis of human cancer cells infected by an oncolytic HSV-1 reveals multiple upregulated cellular genes and a role for SOCS1 in virus replication. Cancer Gene Ther. 2008 Nov;15(11):733-41.

Kucherlapati MH, Yang K, Fan K, Kuraguchi M, Sonkin D, Rosulek A, et al. Loss of Rb1 in the gastrointestinal tract of Apc1638N mice promotes tumors of the cecum and proximal colon. Proc Natl Acad Sci U S A. 2008 Oct 7;105(40):15493-8.

Gudivada RC, Qu XA, Chen J, Jegga AG, Neumann EK, Aronow BJ. Identifying disease-causal genes using Semantic Web-based representation of integrated genomic and phenomic knowledge. J Biomed Inform. 2008 Oct;41(5):717-29.

Clinical Interests

Genetic basis of pediatric heart disease

Research Interests

Cardiovascular disease in the young;  congenital heart defects; cardiomyopathy; disorders of heart rhythm (arrhythmias); heart malformation or dysfunction

MS: Emory University, 1967.

PhD: University of North Carolina, 1970.

MD: Duke University, 1972.

Residency: Pediatrics, Duke University.

Fellowship: Cardiology, Duke University.

Certification: Pediatrics, 1976, 1993; Cardiology, 1977, 1993.

Hinton RB, Adelman-Brown J, Witt S, Krishnamurthy VK, Osinska H, Sakthivel B, James JF, Li DY, Narmoneva DA, Mecham RP, Benson DW. Elastin haploinsufficiency results in progressive aortic valve malformation and latent valve disease in a mouse model. Circ Res. 2010 Aug 20;107(4):549-57.

Wansapura JP, Hor KN, Mazur W, Fleck R, Hagenbuch S, Benson DW, Gottliebson WM. Left ventricular T2 distribution in Duchenne muscular dystrophy. J Cardiovasc Magn Reson. 2010 Mar 18;12:14.

Beery TA, Shah MJ, Benson DW. Genetic characterization of familial CPVT after 30 years. Biol Res Nurs. 2009 Jul;11(1):66-72.

Hinton RB, Martin LJ, Rame-Gowda S, Tabangin ME, Cripe LH, Benson DW. Hypoplastic left heart syndrome links to chromosomes 10q and 6q and is genetically related to bicuspid aortic valve. J Am Coll Cardiol. 2009 Mar 24;53(12):1065-71. 

Markham LW, Kinnett K, Wong BL, Benson DW, Cripe LH. Corticosteroid treatment retards development of ventricular dysfunction in Duchenne muscular dystrophy. Neuromuscul Disord. 2008;18:365-370.

Hinton RB, Jr, Andelfinger G, Sekar P, Hinton AC, Gendron RL, Michelfelder EC, Robitaille Y, Benson DW. Prenatal head growth and white matter injury in hypoplastic left heart syndrome. Ped Res 2008;64:364-369.

Hinton RB, Martin LJ, Rame-Gowda SR, Tabangin ME, Cripe LH, Benson DW. Hypoplastic left heart syndrome links to chromosomes 10q and 6q and is genetically related to bicuspid aortic valve. J Am Coll Cardiol. 2008; in press.  

Martin LJ, Ramachandran V, Cripe LH, Hinton RB, Andelfinger G, Tabangin M, Shooner K, Keddache M, Benson DW. Evidence in favor of linkage to human chromosomal regions 18q, 5q and 13q for bicuspid aortic valve and associated cardiovascular malformations. Hum Genet. 2007;121:275-284.

Zhao B, Etter L, Hinton Jr. RB, Benson DW. BMP and FGF regulatory pathways in semilunar valve precursor cells. Dev Dyn. 2007;236:971-980.

Viswanathan S, Burch JBE, Fishmann GI, Moskowitz IP, Benson DW. Immunohistochemical characterization of sinoatrial node in four atrioventricular conduction system marker mice. J Mol Cell Cardiol. 2007;42:946-953.

Hinton RB Jr, Martin LJ, Tabangin ME, Mazwi M, Cripe LH, Benson DW. Hypoplastic left heart syndrome is heritable. J Am Coll Cardiol. 2007; 50:1590-1595.

Clinical Interests

Rotavirus; herpes simplex virus; cytomegalovirus; preclinical and clinical evaluations of vaccine; immune response to herpes virus
 

Research Interests

Evaluation of vaccines and antivirals for herpes and rotovirus; development of improved adjuvants and delivery systems for vaccines; treatment and prevention of influenza, norovirus and parvovirus infections

MA: Microbiology, State University of New York at Buffalo, Buffalo, NY, 1973.

MD: State University of New York at Buffalo School of Medicine, Buffalo, NY, 1977.

Residency: Pediatrics, University of Southern California Medical Center, Los Angeles, CA; Tufts University School of Medicine, Boston, MA.

Fellowship: Pediatric Infectious Disease, University of California, Los Angeles, CA.

Certification: American Board of Medical Examiners, 1978; American Board of Pediatrics, 1981; Pediatrics, 1982.

Staat MA, Rice MA, Donauer S, Payne DC, Bresee JS, Mast TC, Curns AT, Cortese MM, Connelly B, McNeal M, Ward RL, Bernstein DI, Parashar UD, Salisbury S. Estimating the rotavirus hospitalization disease burden and trends, using capture-recapture methods. Pediatr Infect Dis J. 2010 Dec;29(12):1083-6.

Widdice LE, Bernstein DI, Leonard AC, Marsolo KA, Kahn JA. Adherence to the HPV Vaccine Dosing Intervals and Factors Associated With Completion of 3 Doses. Pediatrics. 2010 Dec 13.

Bernstein DI, Epstein T, Murphy-Berendts K, Liss GM. Surveillance of systemic reactions to subcutaneous immunotherapy injections: year 1 outcomes of the ACAAI and AAAAI collaborative study. Ann Allergy Asthma Immunol. 2010 Jun;104(6):530-5.

Sublett JW, Bernstein DI. Occupational rhinitis. Curr Allergy Asthma Rep. 2010 Mar;10(2):99-104. 

Bernstein DI. The changing epidemiology of rotavirus gastroenteritis. Introduction. Pediatr Infect Dis J. 2009 Mar;28(3 Suppl):S49. 

Bernstein DI, Cardin RD, Bravo FJ, Strasser JE, Farley N, Chalk C, Lay M, Fairman J. Potent adjuvant activity of cationic liposome-DNA complexes for genital herpes vaccines. Clin Vaccine Immunol. 2009 May;16(5):699-705. 

Yee EL, Staat MA, Azimi P, Bernstein DI, Ward RL, Schubert C, Matson DO, Turcios-Ruiz RM, Parashar U, Widdowson MA, Glass RI. Burden of rotavirus disease among children visiting pediatric emergency departments in Cincinnati, Ohio, and Oakland, California, in 1999-2000. Pediatrics. 2008 Nov;122(5):971-7. 

Bernstein DI, Edwards KM, Dekker CL, Belshe R, Talbot HK, Graham IL, Noah DL, He F, Hill H. Effects of adjuvants on the safety and immunogenicity of an avian influenza H5N1 vaccine in adults. J Infect Dis. 2008 Mar 1;197(5):667-75. 

Bravo FJ, Cardin RD, Bernstein DI. A model of human cytomegalovirus infection in severe combined immunodeficient mice. Antiviral Res. 2007;76:104-110.

Kahn JA, Rosenthal SL, Tissot AM, Bernstein DI, Wetzel C, Zimet GD. Factors influencing pediatricians’ intention to recommend human papillomavirus vaccines. Ambul Pediatr. 2007;7:367-373.
 

MD: Federal University Rio Grande Norte, Natal, Brazil, 1984

Residency: University of Arizona, Tuscon, AZ, 1989

Fellowship: Gastroenterology, Hepatology and Nutrition, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, OH, 1994

Certification: Pediatrics, Pediatric Gastroenterology, Hepatology and Nutrition

Bezerra JA. Biliary atresia in Brazil: where we are and where we are going. J Pediatr (Rio J). 2010 Nov-Dec;86(6):445-7. 

Moyer K, Kaimal V, Pacheco C, Mourya R, Xu H, Shivakumar P, Chakraborty R, Rao M, Magee JC, Bove K, Aronow BJ, Jegga AG, Bezerra JA. Staging of biliary atresia at diagnosis by molecular profiling of the liver. Genome Med. 2010 May 13;2(5):33.

Kumar Mohanty S, Ivantes CA, Mourya R, Pacheco C, Bezerra JA. Macrophages are targeted by rotavirus in experimental biliary atresia and induce neutrophil chemotaxis via Mip2/Cxcl2. Pediatr Res. 2010 Jan 6.

Shivakumar P, Sabla GE, Whitington P, Chougnet CA, Bezerra JA. Neonatal NK cells target the mouse duct epithelium via Nkg2d and drive tissue-specific injury in experimental biliary atresia. J Clin Invest. 2009 Aug;119(8):2281-90. 

Shanmukhappa K, Matte U, Degen JL, Bezerra JA. Plasmin-mediated proteolysis is required for hepatocyte growth factor activation during liver repair. J Biol Chem. 2009 May 8;284(19):12917-23. 

Erickson N, Mohanty SK, Shivakumar P, Sabla G, Chakraborty R, Bezerra JA. Temporal-spatial activation of apoptosis and epithelial injury in murine experimental biliary atresia. Hepatology. 2008 May;47(5):1567-77. 

Shivakumar P, Sabla G, Mohanty S, McNeal M, Ward R, Stringer K, Caldwell C, Chougnet C, Bezerra JA. Effector role of neonatal hepatic CD8+ lymphocytes in epithelial injury and autoimmunity in experimental biliary atresia. Gastroenterology. 2007 Jul;133(1):268-77. 

Liu C, Aronow BJ, Jegga AG, Wang N, Miethke A, Mourya R, Bezerra JA. Novel resequencing chip customized to diagnose mutations in patients with inherited syndromes of intrahepatic cholestasis. Gastroenterology. 2007 Jan;132(1):119-26. 

Campbell KM, Arya G, Ryckman FC, Alonso M, Tiao G, Balistreri WF, Bezerra JA. High prevalence of alpha-1-antitrypsin heterozygosity in children with chronic liver disease. J Pediatr Gastroenterol Nutr. 2007 Jan;44(1):99-103. 

Shanmukhappa K, Sabla GE, Degen JL, Bezerra JA. Urokinase-type plasminogen activator supports liver repair independent of its cellular receptor. BMC Gastroenterol. 2006 Nov 29;6:40. 

Clinical Interests

Proliferative renal diseases; renal cystic disease; solid lesions

Research Interests

Proliferative renal diseases; polycystic kidney disease; tuberous sclerosis complex; Von Hippel-Lindau disease; Birt-Hogg-Dube syndrome and renal cancers; understanding the mechanisms of mutation leading to these diseases as well as the consequences of mutations in hope of finding effected treatments

Visit the Bissler Lab.
 

MD: Northeastern Ohio University College of Medicine, Rootstown, OH, 1985

Residency: Pediatrics, Children's Medical Center, Akron, OH

Fellowship: Nephrology, Children's Hospital Medical Center, Cincinnati, OH

Certification: Pediatrics, 1989; Pediatric Nephrology, 1992

Dixon BP, Hulbert JC, and Bissler JJ. Tuberous Sclerosis Complex Renal Disease. Nephron.  2011;118(1):e15-20.

Siroky BJ, Yin H, Bissler JJ. Molecular Insights into Tuberous Sclerosis Complex Renal Disease. Pediatric Nephrol. 2010 Dec 9. 

Mrug M, and Bissler JJ. Simulation of real-time ultrasound-guided renal biopsy. Kidney Int. 2010 Oct;78(7):705-7.  

Bissler JJ, Siroky BJ, Yin H. Glomerulocystic kidney disease. Pediatric Nephrol. 2010 Oct;25(10):2049-56; quiz 2056-9.

Liu G, Bissler JJ, Sinden RR, Leffak M. Replication dependent instability at (CTG)•(CAG) repeat hairpins in human cells. Nat Chem Biol. 2010 Sep;6(9):652-9.

Johnson SR, and the Review Panel of the European Respiratory Society Lymphangioleiomyomatosis Task Force. European Respiratory Society guidelines for the diagnosis and management of lymphangioleiomyomatosis. Eur Respir J. 2010;35:14-26.

Siroky BJ, Czyzyk-Krzeska MF, Bissler JJ.  Renal involvement in tuberous sclerosis complex and von Hippel-Lindau disease: shared disease mechanisms? Nat Clin Pract Nephrol. 2009;5(3):143-56.

Schmithorst VJ, Altes TA, Young LR, Franz DN, Bissler JJ, McCormack FX, et al.  Automated algorithm for quantifying the extent of cystic change on volumetric chest CT: initial results in Lymphangioleiomyomatosis . Am J Roentgenol. 2009;192(4):1037-44.

Dixon BP, Chu A, Henry J, Kim R, Bissler JJ.  Increased cancer risk of augmentation cystoplasty: Possible role for hyperosmolal microenvironment on DNA damage recognition . Mutat Res. 2009; 670:88-95.

Book Chapters

Bissler JJ, Henske E. Tuberous Sclerosis Complex: From Genes to Therapeutics. Chapter 15. Renal Manifestations of Tuberous Sclerosis Complex. In: Whittemore V, Henske EP, Kwiatkowski D, editors. New York: Elsevier; 2009.

Clinical Interests

Diarrheal disorders; inflammatory bowel disease; celiac disease

Research Interests

Intestinal secretion; diarrheal disease; developmental biology

Visit the Cohen-Steinbrecher Lab.

MD: Mount Sinai School of Medicine, New York, NY, 1977.

Residency: Johns Hopkins Hospital, Baltimore, MD, 1977 to 1980.

Fellowship: Pediatric Gastroenterology and Nutrition, Children's Hospital Medical Center of Cincinnati, 1983 to 1986; Research Scholar, Pediatric Gastroenterology and Nutrition, Children's Hospital Medical Center of Cincinnati, 1986 to 1987.

Certification: Pediatrics, 1981; Pediatric Gastroenterology and Nutrition, 1990, 1997, 2004.

Steinbrecher KA, Cohen MB. Transmembrane guanylate cyclase in intestinal pathophysiology. Curr Opin Gastroenterol. 2010 Nov 20.

Mann EA, Shanmukhappa K, Cohen MB. Lack of guanylate cyclase C results in increased mortality in mice following liver injury. BMC Gastroenterol. 2010 Aug 2;10:86.

Graham RC, Heubi JE, Cohen MB, Li B. Teaching and tomorrow: a novel recruitment program for a pediatric subspecialty. J Pediatr Gastroenterol Nutr. 2009 Nov;49(5):594-8.

Cohen MB. Clostridium difficile infections: emerging epidemiology and new treatments. J Pediatr Gastroenterol Nutr. 2009 Apr;48 Suppl 2:S63-5.

Garin-Laflam MP, Steinbrecher KA, Rudolph JA, Mao J, Cohen MB. Activation of guanylate cyclase C signaling pathway protects intestinal epithelial cells from acute radiation-induced apoptosis. Am J Physiol Gastrointest Liver Physiol. 2009 Apr;296(4):G740-9.

Cohen MB, Gunter JB. How safe is intravenous sedation with midazolam and fentanyl for pediatric gastrointestinal endoscopy? Nat Clin Pract Gastroenterol Hepatol. 2007 Oct;4(10):538-9. Epub 2007 Aug 21.  

Pasternak B, Grom A, Yazigi N, Cohen MB. Suppurative peripheral arthritis in inflammatory bowel disease. J Pediatr Gastroenterol Nutr. 2007 Jul;45(1):117-20. No abstract available.

Rudolph JA, Pratt J, Mourya R, Steinbrecher KA, Cohen MB. Novel mechanism of cyclic AMP mediated extracellular signal regulated kinase activation in an intestinal cell line. Cell Signal. 2007 Jun;19(6):1221-8.

Burrow TA, Cohen MB, Bokulic R, Deutsch G, Choudhary A, Falcone RA Jr, Grabowski GA. Gaucher disease: progressive mesenteric and mediastinal lymphadenopathy despite enzyme therapy. J Pediatr. 2007 Feb;150(2):202-6.

Konikoff MR, Noel RJ, Blanchard C, Kirby C, Jameson SC, Buckmeier BK, Akers R, Cohen MB, Collins MH, Assa'ad AH, Aceves SS, Putnam PE, Rothenberg ME. A randomized, double-blind, placebo-controlled trial of fluticasone propionate for pediatric eosinophilic esophagitis. Gastroenterology. 2006 Nov;131(5):1381-91.
 

Molecular genetics of plasminogen activation in development, hemostasis, and tumor progression; molecular genetics and biological role of plasminogen activation in development, hemostasis, wound repair, and disease

Inflammatory bowel disease; growth failure; celiac disease

Visit the Denson Lab.
 

Prostaglandin-nuclear receptor-angiogenic signaling axis during embryo implantation with special emphasis to cPLA2α-Cox2-PPARδ-Vegf network in the uterus; cytokine-growth factor-homeobox-morphogen signaling axis in implantation involving Lif-Hb-Egf-Hoxa10/Msx1-Ihh/Bmp/Wnt network in the uterus; immunophilin/cochaperone-nuclear signaling in the mouse uterus during implantation involving Fkbp52-PR; ligand-receptor signaling with endocannabinoids during the periimplantation events in mice in the context of anandamide interacting with G-protein coupled receptors, CB1 and CB2; molecular and genetic basis of epithelial ovarian cancer with special reference to prostaglandin-PPAR signaling; miRNA and Cox-2 regulation in uterine biology and cancer; Pten and uterine carcinoma: conditionally gene deleted mouse models

Visit the Dey Lab.
 

Sun X, Xie H, Yang J, Wang H, Bradshaw HB, Dey SK. Endocannabinoid signaling directs differentiation of trophoblast cell lineages and placentation. Proc Natl Acad Sci U S A. 2010 Sep 28;107(39):16887-92.

Hirota Y, Acar N, Tranguch S, Burnum KE, Xie H, Kodama A, Osuga Y, Ustunel I, Friedman DB, Caprioli RM, Daikoku T, Dey SK. Uterine FK506-binding protein 52 (FKBP52)-peroxiredoxin-6 (PRDX6) signaling protects pregnancy from overt oxidative stress. Proc Natl Acad Sci U S A. 2010 Aug 31;107(35):15577-82. 

Hirota Y, Cha J, Dey SK. Revisiting reproduction: Prematurity and the puzzle of progesterone resistance. Nat Med. 2010 May;16(5):529-31.

Dey SK. How we are born. J Clin Invest. 2010 Apr 1;120(4):952-5.

Hirota Y, Daikoku T, Tranguch S, Xie H, Bradshaw HB, Dey SK. Uterine-specific p53 deficiency confers premature uterine senescence and promotes preterm birth in mice. J Clin Invest. 2010 Mar 1;120(3):803-15. 

Sun X, Jackson L, Dey SK, Daikoku T. In pursuit of leucine-rich repeat-containing G protein-coupled receptor-5 regulation and function in the uterus. Endocrinology. 2009 Nov;150(11):5065-73. 

Sun X, Dey SK. Cannabinoid/Endocannabinoid signaling impact on early pregnancy events. Curr Top Behav Neurosci. 2009;1:255-73. Review.

Burnum KE, Cornett DS, Puolitaival SM, Milne SB, Myers DS, Tranguch S, Brown HA, Dey SK, RM Caprioli. Spatial and temporal alterations of phospholipids determined by mass spectrometry during mouse embryo implantation. J Lipid Res. (2009).

Daling JR, Doody DR, Sun X, Trabert BL, Weiss NS, Chen C, Biggs ML, Starr JR, Dey SK, SM Schwartz. Association of marijuana use and the incidence of testicular germ cell tumors. Cancer. 2009 115(6):1215-23.

Huang X, Ketova T, Fleming JT, Wang H, Dey SK, Litingtung Y, C Chiang. Sonic hedgehog signaling regulates a novel epithelial progenitor domain of the hindbrain choroid plexus. Development.  2009.  

Attention deficit hyperactivity disorder (ADHD)

Epstein JN. How can the internet help improve community-based pediatric ADHD care?  Expert Review of Neurotherapeutics. 2012;12, 501-503.

Becker SP, Langberg JM, Vaughn AJ, Epstein JN. Clinical utility of the Vanderbilt ADHD Diagnostic Parent Rating Scale comorbidity screening scales. Journal of Developmental and Behavioral Pediatrics. 2012;33, 221-228.

Shiels K, Tamm L, Epstein JN. Deficient post-error slowing in children with ADHD is limited to the inattentive subtype. Journal of the International Neuropsychological Society. 2012;18, 1-6.

Froehlich TE, Epstein JN, Nick TG, Melguizo-Castro MS, Stein MA, Brinkman WB, Graham AJ,  Langberg JM, Kahn RS. Pharmacogenetic predictors of methylphenidate dose-response in Attention-Deficit/Hyperactivity Disorder. Journal of the American Academy of Child and Adolescent Psychiatry. 2011;50, 1129-1139.

Brinkman WB, Hartl J, Rawe L, Britto MT, Epstein JN. Physicians’ shared decision making behaviors in Attention-Deficit/Hyperactivity Disorder care. Archives of Pediatrics and Adolescent Medicine. 2011;165, 1013-1019.

Vaughn A, Epstein J, Rausch J, Altaye M, Langberg J, Newcorn J, Hinshaw S, Hechtman L, Arnold LE, Swanson J, Wigal T. Relations between neuropsychological functioning and ADHD symptomatology over time. Journal of Abnormal Child Psychology. 2011;39, 853-864

Epstein JN, Langberg JM, Rosen PJ, Graham A, Narad ME, Antonini TN, Brinkman WB, Froehlich T, Simon JO, Altaye M. Evidence for higher reaction time variability for children with ADHD on a range of cognitive tasks including reward and event rate manipulations. Neuropsychology. 2011;25, 427-441.

Epstein JN, Langberg JM, Lichtenstein PK, Kolb R, Altaye M, Simon JO. Use of a web portal to improve community-based pediatric ADHD care: A cluster randomized trial. Pediatrics. 2011;128, e1201-e1208.

Langberg JM, Molina BSG, Arnold LE, Epstein JN, Altaye M, Hinshaw SP, Swanson JM, Wigal T, Hechtman L. Patterns and predictors of adolescent academic achievement and performance in a sample of children with Attention-Deficit/Hyperactivity Disorder (ADHD). Journal of Clinical Child and Adolescent Psychology. 2011;40, 1-13.

Epstein JN, Brinkman WB, Froehlich T, Langberg JM, Narad ME, Antonini TN, Shiels K, Simon JO, Altaye M. Effects of stimulant medication, incentives, and event rate on reaction time variability in children with ADHD.  Neuropsychopharmacology. 2011;36, 1060-1072.

Clinical Interests

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

Research Interests

Molecular pathogenesis and therapy of human genetic disease

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.

Regulation of gene expression in human placenta and uterine decidua during differentiation.

Visit the Handwerger Lab.

Sherafat-Kazemzadeh R, Schroeder JK, Kessler CA, Handwerger S. Parathyroid Hormone-Like Hormone (PTHLH) Represses Decidualization of Human Uterine Fibroblast Cells by an Autocrine/Paracrine Mechanism. J Clin Endocrinol Metab. 2011 Feb;96(2):509-14.

Hubert MA, Sherritt SL, Bachurski CJ, Handwerger S. Involvement of transcription factor NR2F2 in human trophoblast differentiation. PLoS One. 2010 Feb 25;5(2):e9417.

Handwerger S. New insights into the regulation of human cytotrophoblast cell differentiation. Mol Cell Endocrinol. 2010 Jul 8;323(1):94-104.

Kessler CA, Bachurski CJ, Schroeder J, Stanek J, Handwerger S. TEAD1 inhibits prolactin gene expression in cultured human uterine decidual cells. Mol Cell Endocrinol. 2008 Nov 25;295(1-2):32-8.

Repaske DR, Handwerger S. Making the transition from pediatric to adult endocrinology services. Nat Clin Pract Endocrinol Metab. 2008 Sep;4(9):492-3.

Robins JC, Heizer A, Hardiman A, Hubert M, Handwerger S. Oxygen tension directs the differentiation pathway of human cytotrophoblast cells. Placenta. 2007 Nov-Dec;28(11-12):1141-6.

Eyal O, Jomain JB, Kessler C, Goffin V, Handwerger S. Autocrine prolactin inhibits human uterine decidualization: a novel role for prolactin. Biol Reprod. 2007 May;76(5):777-83.

Lomenick JP, Hubert MA, Handwerger S. Transcription factor FOXF1 regulates growth hormone variant gene expression. Am J Physiol Endocrinol Metab. 2006 Nov;291(5):E947-51.

Grinius L, Kessler C, Schroeder J, Handwerger S. Forkhead transcription factor FOXO1A is critical for induction of human decidualization. J Endocrinol. 2006 Apr;189(1):179-87.

Kessler CA, Schroeder JK, Brar AK, Handwerger S. Transcription factor ETS1 is critical for human uterine decidualization. Mol Hum Reprod. 2006 Feb;12(2):71-6.

Cobb BL, Fei Y, Jonsson R, Bolstad AI, Brun JG, Rischmueller M, Lester SE, Witte T, Illei G, Brennan M, Bowman S, Moser KL, Harley JB, Sawalha AH.  Genetic association between methyl-CpG binding protein 2 (MECP2) and primary Sjögren’s syndrome. Ann Rheum Dis. 2010; 69(9): 1731-2.

Kim-Howard X, Maiti AK, Anaya J-M, Bruner GR, Brown E, Merrill JT, Edberg JC, Petri MA, Reveille JD, Ramsey-Goldman R, Alarcon GS, Vyse TJ, Gilkeson G, Kimberly RP, James JA, Guthridge JM, Harley JB, Nath SK.  ITGAM coding variant (rs1143679) influences the risk of renal disease, discoid rash, and immunologic manifestations in lupus patients with European ancestry. Ann Rheum Dis. 2010.

Javierre BM, Fernandez AF, Richter J, Al-Shahrour F, Martin-Subero JI, Rodriguez-Ubreva J, Berdasco M, Fraga MF, O'Hanlon TP, Rider LG, Jacinto FV, Lopez-Longo FJ, Dopazo J, Forn M, Peinado MA, Carreno L, Sawalha AH, Harley JB, Siebert R, Esteller M, Miller FW, Ballestar E.  Changes in the pattern of DNA methylation associate with twin discordance in systemic lupus erythematosus. Genome Res. 2010; 20(2):170-179. 

Harley JB, James JA.  Everyone comes from somewhere: systemic lupus erythematosus and Epstein-Barr virus, induction of host interferon (INF) and humoral anti-EBNA1 immunity. Arthritis Rheum. 2010.

\Bronson PG, Komorowski LK, Ramsay PP, May SL, Noble J, Lane JA, Thomson G, Claas FH, Seldin MF, Kelly JA, Harley JB, Moser KL, Gaffney PM, Behrens T, Criswell LA, Barcellos LF.  Analysis of maternal-offspring HLA compatibility, parent-of-origin and noninherited effects for HLA-DRB1 in systemic lupus erythematosus. Arthritis Rheum. 2010.

Heinlen LD, McClain MT, Ritterhouse LL, Bruner BF, Edgerton CC, Keith MP, James JA, Harley JB.  60kD Ro and nRNP A frequently initiate human lupus autoimmunity. PLoS ONE. 2010 5(3):e9599. 

Sammalisto S, Hiekkalinna T, Schwander K, Kardia S, Weder AB, Rodriquez BL, Doria A, Kelly JA, Bruner GR, Harley JB, Redline S, Larkin EK, Patel SR, Ewan AJ, Weber JL, Perola M, Peltonen L. Genome-wide linkage screen for stature and body mass index in 3.032 families: evidence for sex-and population-specific genetic effects. Eur J Hum Genet. 2009 Jan 1;17(2):258-266.

Poole BD, Templeton AK, Guthridge JM, Brown EJ, Harley JB, James JA.  Aberrant Epstein-Barr viral infection in systemic lupus erythematosus. Autoimmun Rev. 2009 Feb;8(4):337-42.

Poole BD, Schneider RI, Guthridge JM, Velte CA, Reichlin M, Harley JB, James JA.  Early targets of nuclear RNP humoral autoimmunity in human systemic lupus erythematosus. Arthritis Rheum. 2009 Feb 26; 60(3):848-859.

Han S, Kim-Howard X, Deshmukh H, Kamatani Y, Viswanathan P, Guthridge JM, Thomas K, Kaufman KM, Ojwang J, Rojas-Villarraga A, Baca V, Orozco L, Rhodes B, Choi CB, Gregersen PK, Merrill JT, James JA, Gaffney PM, Moser KL, Jacob CO, Kimberly RP, Harley JB, Bae SC, Anaya JM, Alarcon-Riquelme ME, Matsuda K, Vyse TJ, Nath SK.  Evaluation of imputation-based association in and around the Integrin-α-M (ITGAM) gene and replication of robust association between a non-synonymous functional variant within ITGAM and systemic lupus erythematosus (SLE). Hum Mol Genet. 2009 Mar 15;18(6):1171-80.

Clinical Interests

Asthma; allergic rhinitis; food allergy; urticaria

Research Interests

Genetics of allergy and asthma; cytokines; signaling pathways

Le Cras TD, Acciani TH, Mushaben EM, Kramer EL, Pastura PA, Hardie WD, Korfhagen TR, Sivaprasad U, Ericksen M, Gibson AM, Holtzman MJ, Whitsett JA, Khurana Hershey GK. Epithelial EGF receptor signaling mediates airway hyperreactivity and remodeling in a mouse model of chronic asthma. Am J Physiol Lung Cell Mol Physiol. 2011 Mar;300(3):L414-21.

Baye TM, Butsch Kovacic M, Biagini Myers JM, Martin LJ, Lindsey M, Patterson TL, He H, Ericksen MB, Gupta J, Tsoras AM, Lindsley A, Rothenberg ME, Wills-Karp M, Eissa NT, Borish L, Khurana Hershey GK. Differences in Candidate Gene Association between European Ancestry and African American Asthmatic Children. PLoS One. 2011 Feb 28;6(2):e16522.

Cortina SD, Drotar D, Ericksen M, Lindsey M, Patterson TL, Biagini Myers JM, Kovacic MB, Khurana Hershey GK. Genetic Biomarkers of Health-Related Quality of Life in Pediatric Asthma. J Pediatr. 2011 Feb 14.

Epstein TG, Bernstein DI, Levin L, Khurana Hershey GK, Ryan PH, Reponen T, Villareal M, Lockey JE, Lemasters GK. Opposing effects of cat and dog ownership and allergic sensitization on eczema in an atopic birth cohort. J Pediatr. 2011 Feb;158(2):265-271.e5.

Newcomb DC, Boswell MG, Zhou W, Huckabee MM, Goleniewska K, Sevin CM, Khurana Hershey GK, Kolls JK, Peebles RS Jr. Human T(H)17 cells express a functional IL-13 receptor and IL-13 attenuates IL-17A production. J Allergy Clin Immunol. 2011 Jan 12.

Sivaprasad U, Askew DJ, Ericksen MB, Gibson AM, Stier MT, Brandt EB, Bass SA, Daines MO, Chakir J, Stringer KF, Wert SE, Whitsett JA, Le Cras TD, Wills-Karp M, Silverman GA, Khurana Hershey GK. A nonredundant role for mouse Serpinb3a in the induction of mucus production in asthma. J Allergy Clin Immunol. 2011 Jan;127(1):254-61, 261.e1-6.

Sivaprasad U, Warrier MR, Gibson AM, Chen W, Tabata Y, Bass SA, Rothenberg ME, Khurana Hershey GK. IL-13Rα2 has a protective role in a mouse model of cutaneous inflammation. J Immunol. 2010 Dec 1;185(11):6802-8.

Biagini Myers JM, Khurana Hershey GK. Eczema in early life: genetics, the skin barrier, and lessons learned from birth cohort studies. J Pediatr. 2010 Nov;157(5):704-14.

Baye TM, Martin LJ, Khurana Hershey GK. Application of genetic/genomic approaches to allergic disorders. J Allergy Clin Immunol. 2010 Sep;126(3):425-36; quiz 437-8.

Codispoti CD, Levin L, LeMasters GK, Ryan P, Reponen T, Villareal M, Burkle J, Stanforth S, Lockey JE, Khurana Hershey GK, Bernstein DI. Breast-feeding, aeroallergen sensitization, and environmental exposures during infancy are determinants of childhood allergic rhinitis. J Allergy Clin Immunol. 2010 May;125(5):1054-1060.e1.

Clinical Interests

Inflammatory bowel disease; cholestatic liver disease; malabsorption

Research Interests

Cholesterol absorption; cholesterol metabolism; inborn errors of bile acid metabolism; bone metabolism in health and disease; TPN-related cholestasis and its treatment

Mizukawa B, George A, Pushkaran S, Weckbach L, Kalinyak K, Heubi JE, Kalfa TA. Cooperating G6PD mutations associated with severe neonatal hyperbilirubinemia and cholestasis. Pediatr Blood Cancer. 2011 May;56(5):840-2.

Kohli R, Kirby M, Setchell KD, Jha P, Klustaitis K, Woollett LA, Pfluger PT, Balistreri WF, Tso P, Jandacek RJ, Woods SC, Heubi JE, Tschoep MH, D'Alessio DA, Shroyer NF, Seeley RJ. Intestinal adaptation after ileal interposition surgery increases bile acid recycling and protects against obesity-related comorbidities. Am J Physiol Gastrointest Liver Physiol. 2010 Sep;299(3):G652-60.

Heubi JE. Child health research and the Clinical Translational Science Awards: where have we been and where are we going? Clin Transl Sci. 2010 Jun;3(3):67-8.

Hommel KA, McGraw KL, Ammerman RT, Heubi JE, Hansen M, Dunlap E, Beidel DC. Psychosocial functioning in children and adolescents with gastrointestinal complaints and disorders. J Clin Psychol Med Settings. 2010 Jun;17(2):159-66.

Setchell KD, Zhao X, Jha P, Heubi JE, Brown NM. The pharmacokinetic behavior of the soy isoflavone metabolite S-(-)equol and its diastereoisomer R-(+)equol in healthy adults determined by using stable-isotope-labeled tracers. Am J Clin Nutr. 2009 Oct;90(4):1029-37.

Wooldridge JL, Heubi JE, Amaro-Galvez R, Boas SR, Blake KV, Nasr SZ, Chatfield B, McColley SA, Woo MS, Hardy KA, Kravitz RM, Straforini C, Anelli M, Lee C. EUR-1008 pancreatic enzyme replacement is safe and effective in patients with cystic fibrosis and pancreatic insufficiency. J Cyst Fibros. 2009 Dec;8(6):405-17.

Graham RC, Heubi JE, Cohen MB, Li B. Teaching and tomorrow: a novel recruitment program for a pediatric subspecialty. J Pediatr Gastroenterol Nutr. 2009 Nov;49(5):594-8.

Burke KT, Horn PS, Tso P, Heubi JE, Woollett LA. Hepatic bile acid metabolism in the neonatal hamster: expansion of the bile acid pool parallels increased Cyp7a1 expression levels. Am J Physiol Gastrointest Liver Physiol. 2009 Jul;297(1):G144-51.

Heubi JE. Pancreatic enzyme-replacement therapy in CF: considerations for the USA. Expert Rev Respir Med. 2008 Oct;2(5):589-96.

Heubi JE, Setchell KD, Bove KE. Inborn errors of bile acid metabolism. Semin Liver Dis. 2007 Aug;27(3):282-94.

Bacterial and fungal infections; medical evaluation of internationally adopted children

Clinical Interests

Clinical trials in neonatology; bronchopulmonary dysplasia

Research Interests

Lung maturation and lung injury in the fetus and newborn; use of antenatal corticosteroids; lung injury with ventilation of the preterm

Moss TJM, Nitsos I, Knox CL, Polglase GR, Kallapur SG, Ikegami M, Jobe AH, Newnham JP.  Ureaplasma colonization of amniotic fluid and efficacy of antenatal corticosteroids for preterm lung maturation in sheep. AJOG. 2009;200(1):96.e1-6.

Polglase GR, Hillman NH, Ball MK, Kramer BW, Kallapur SG, Jobe AH, Pillow JJ.  Lung and systemic inflammation in preterm lambs on CPAP or conventional ventilation. Pediatr Res. 2009;65(1):67-71.

Cheah F-C, Pillow JJ, Kramer BW, Polglase GR, Nitsos I, Newnham JP, Jobe AH, Kallapur SG.  Airway inflammatory cell responses to intra-amniotic lipopolysaccharide in a sheep model of chorioamnionitis. Am J Physiol Lung Cell Mol Physiol. 2008;296:L384-93.

Ball MK, Jobe AH, Polglase GR, Kallapur SG, Choe-Cheah F, Hillman NH, Pillow JJ.  High and low body temperature during the initiation of ventilation for near-term lambs. Resuscitation. 2008;80:133-7.

Kramer BW, Albertine KH, Moss TJM, Nitsos I, Speer CP, Newnham JP, Jobe AH.  All-trans retinoic acid does not modulate intra-amniotic endotoxin mediated effects on the fetal sheep lung. The Anatomical Record. 2008;291:1271-7.

Polglase GR, Hillman NH, Pillow JJ, Cheah F-C, Nitsos I, Moss TJ, Kramer BW, Ikegami M, Kallapur SG, Jobe AH.  Positive end-expiratory pressure and tidal volume during initial ventilation of preterm lambs. Pediatr Res. 2008;64:517.

Hillman N, Moss TJM, Nitsos I, Kramer BW, Bachurski C, Ikegami M, Jobe AH, Kallapur SG.  Toll-like receptors and agonist responses in the developing fetal sheep lung. Pediatr Res. 2008;63:388-93.

Sweet DG, Huggett MT, Warner JA, Moss TJM, Halliday HL, Newnham JP, Kallapur SG, Jobe AH, Kramer BW.  Maternal betamethasone and chorioamnionitis induce different collagenases and lung maturation in fetal sheep lungs. Neonatology. 2008;94:79-86.

Jobe AH, Moss TJM, Nitsos Il, Ikegami M, Kallapur SG, Newnham JP. Betamethasone for lung maturation: testing dose and formulation in fetal sheep. AJOG. 2007;197:523.

Moss TJM, Knox CL, Kallapur SG, Nitsos I, Theodoropoulos C, Ikegami M, Newnham JP, Jobe AH. Experimental amniotic fluid infection in sheep: effects of Ureaplasma parvum serovars 3 and 6 on preterm or term fetal sheep. Am J Ob Gyn. 2008;198:122e18. 

Wnt Ligands in Tumorigenesis; Vascular Regression and Tissue Regeneration; Lens Induction and Morphogenesis 

Visit the Lang Lab.

Carpenter AC, Rao S, Wells JM, Campbell K, Lang RA. Generation of mice with a conditional null allele for Wntless. Genesis. 2010 Sep;48(9):554-8.

Pandey RN, Rani R, Yeo EJ, Spencer M, Hu S, Lang RA, Hegde RS. The Eyes Absent phosphatase-transactivator proteins promote proliferation, transformation, migration, and invasion of tumor cells. Oncogene. 2010 Jun 24;29(25):3715-22.

Plageman TF Jr, Chung MI, Lou M, Smith AN, Hildebrand JD, Wallingford JB, Lang RA. Pax6-dependent Shroom3 expression regulates apical constriction during lens placode invagination. Development. 2010 Feb;137(3):405-15.

Smith AN, Radice G, Lang RA. Which FGF ligands are involved in lens induction? Dev Biol. 2010 Jan 15;337(2):195-8.

Chauhan BK, Disanza A, Choi SY, Faber SC, Lou M, Beggs HE, Scita G, Zheng Y, Lang RA. Cdc42- and IRSp53-dependent contractile filopodia tether presumptive lens and retina to coordinate epithelial invagination. Development. 2009 Nov;136(21):3657-67.

Smith AN, Miller LA, Radice G, Ashery-Padan R, Lang RA. Stage-dependent modes of Pax6-Sox2 epistasis regulate lens development and eye morphogenesis. Development. 2009 Sep;136(17):2977-85. Erratum in: Development. 2009 Oct;136(19):3377.

Rao S, Lobov IB, Vallance JE, Tsujikawa K, Shiojima I, Akunuru S, Walsh K, Benjamin LE, Lang RA. Obligatory participation of macrophages in an angiopoietin 2-mediated cell death switch. Development. 2007 Dec;134(24):4449-58.

Song N, Schwab KR, Patterson LT, Yamaguchi T, Lin X, Potter SS, Lang RA. pygopus 2 has a crucial, Wnt pathway-independent function in lens induction. Development. 2007 May;134(10):1873-85.

Schwab KR, Patterson LT, Hartman HA, Song N, Lang RA, Lin X, Potter SS. Pygo1 and Pygo2 roles in Wnt signaling in mammalian kidney development. BMC Biol. 2007 Apr 10;5:15.

Miller LA, Smith AN, Taketo MM, Lang RA. Optic cup and facial patterning defects in ocular ectoderm beta-catenin gain-of-function mice. BMC Dev Biol. 2006 Mar 15;6:14.

Mushaben EM, Kramer EL, Brandt EB, Khurana Hershey GK,Le Cras TD. Rapamycin Attenuates Airway Hyperreactivity, Goblet Cells, and IgE in Experimental Allergic Asthma. J Immunol. 2011 Oct 21. [Epub ahead of print]

Kramer EL, Hardie WD, Mushaben EM, Acciani TH, Pastura PA, Korfhagen TR, Hershey GK, Whitsett JA, Le Cras TD. Rapamycin Decreases Airway Remodeling and Hyperreactivity in a Transgenic Model of Noninflammatory Lung Disease. J Appl Physiol. 2011 Sep 8. [Epub ahead of print]

Le Cras TD, Acciani TH, Mushaben EM, Kramer EL, Pastura PA, Hardie WD, Korfhagen TR, Sivaprasad U, Ericksen M, Gibson AM, Holtzman MJ, Whitsett JA, Hershey GK. Epithelial EGF receptor signaling mediates airway hyperreactivity and remodeling in a mouse model of chronic asthma. Am J Physiol Lung Cell Mol Physiol. 2011 Mar;300(3):L414-21.

Sivaprasad U, Askew DJ, Ericksen MB, Gibson AM, Stier MT, Brandt EB, Bass SA, Daines MO, Chakir J, Stringer KF, Wert SE, Whitsett JA, Le Cras TD, Wills-Karp M, Silverman GA, Khurana Hershey GK. A nonredundant role for mouse Serpinb3a in the induction of mucus production in asthma. J Allergy Clin Immunol. 2011 Jan;127(1):254-61, 261.e1-6.

Ryan MA, Nattamai KJ, Xing E, Schleimer D, Daria D, Sengupta A, Köhler A, Liu W, Gunzer M, Jansen M, Ratner N, Le Cras TD, Waterstrat A, Van Zant G, Cancelas JA, Zheng Y, Geiger H. Pharmacological inhibition of EGFR signaling enhances G-CSF-induced hematopoietic stem cell mobilization. Nat Med. 2010 Oct;16(10):1141-6.

Le Cras TD, Korfhagen TR, Davidson C, Schmidt S, Fenchel M, Ikegami M, Whitsett JA, Hardie WD. Inhibition of PI3K by PX-866 prevents transforming growth factor-alpha-induced pulmonary fibrosis. Am J Pathol. 2010 Feb;176(2):679-86.

Le Cras TD, Korfhagen TR, Davidson C, Schmidt S, Fenchel M, Ikegami M, Whitsett JA, Hardie WD. Inhibition of PI3K by PX-866 prevents transforming growth factor-alpha-induced pulmonary fibrosis. Am J Pathol. 2010 Feb;176(2):679-86.

Korfhagen TR, Le Cras TD, Davidson CR, Schmidt SM, Ikegami M, Whitsett JA, Hardie WD. Rapamycin prevents transforming growth factor-alpha-induced pulmonary fibrosis. Am J Respir Cell Mol Biol. 2009 Nov;41(5):562-72.

Kramer EL, Mushaben EM, Pastura PA, Acciani TH, Deutsch GH, Khurana Hershey GK, Korfhagen TR, Hardie WD, Whitsett JA, Le Cras TD. Early growth response-1 suppresses epidermal growth factor receptor-mediated airway hyperresponsiveness and lung remodeling in mice. Am J Respir Cell Mol Biol. 2009 Oct;41(4):415-25

Kida H, Mucenski ML, Thitoff AR, Le Cras TD, Park KS, Ikegami M, Müller W, Whitsett JA. GP130-STAT3 regulates epithelial cell migration and is required for repair of the bronchiolar epithelium. Am J Pathol. 2008 Jun;172(6):1542-54.

Hardie WD, Davidson C, Ikegami M, Leikauf GD, Le Cras TD, Prestridge A, Whitsett JA, Korfhagen TR. EGF receptor tyrosine kinase inhibitors diminish transforming growth factor-alpha-induced pulmonary fibrosis. Am J Physiol Lung Cell Mol Physiol. 2008 Jun;294(6):L1217-25.

Hardie WD, Korfhagen TR, Sartor MA, Prestridge A, Medvedovic M, Le Cras TD, Ikegami M, Wesselkamper SC, Davidson C, Dietsch M, Nichols W, Whitsett JA, Leikauf GD. Genomic profile of matrix and vasculature remodeling in TGF-alpha induced pulmonary fibrosis. Am J Respir Cell Mol Biol. 2007 Sep;37(3):309-21.

Davis J, Burr AR, Davis GF, Birnbaumer L, Molkentin JD.  A TRPC6-dependent pathway for myofibroblast transdifferentiation and wound healing in vivo.  Dev. Cell  2012. 23:705-715.

Auger-Messier M, Accornero F, Goonasekera SA, Bueno OF, Lorenz JN, van Berlo JH, Willette RN, Molkentin JD. Unrestrained p38 MAPK Activation in Dusp1/4 Double Null Mice Induces Cardiomyopathy. Circ Res. 2012.  In Press.

Lorts A, Schwanekamp JA, Baudino TA, McNally EM, Molkentin JD.  Deletion of periostin reduced muscular dystrophy and fibrosis in mice by modulating the transforming growth factor-b pathway.  Proc Natl Acad Sci USA.  2012. 109:10978-10983

Lynch JM, Maillet M, Vanhoutte D, Schloemer A, Sargent MA, Blair NS, Lynch KA, Okada T, Aronow BJ, Osinska H, Prywes R, Lorenz JN, Mori K, Lawler J, Robbins J, Molkentin JD. A thrombospondin-dependent pathway for a protective ER stress response.  Cell.  2012. 149,1257-1268

Liu Q, Chen Y, Auger-Messier M, Molkentin JD. Interaction Between NFkB and NFAT Coordinates Cardiac Hypertrophy and Pathological Remodeling. Circ Res. 2012. 110:1077-1086

Goonasekera SA, Molkentin JD. Unraveling the secrets of a double life: Contractile versus signaling Ca(2+) in a cardiac myocyte. J Mol Cell Cardiol. 52:317-322. 2012.

Goonasekera SA, Hammer K, Auger-Messier M, Bodi I, Chen X, Zhang H, Reiken S, Elrod JW, Correll RN, York AJ, Sargent MA, Hofmann F, Moosmang S,  Marks AR, Houser SR, Bers DM, Molkentin JD. Decreased cardiac L-type Ca²⁺ channel activity induces hypertrophy and heart failure in mice. J. Clin Invest. 2012.  122:280-290

Kidney development and disease; Hox genes; craniofacial development; creation of an atlas of global gene expression patterns in the multiple compartments of the developing kidney; analysis of perturbed gene expression patterns in the kidney glomeruli of patients with focal segmental glomerulosclerosis; craniofacial development using mutant mice, laser capture microdissection, next generation sequencing, and microarrays; recombineering to target multiple Hox genes at once

Visit the Potter Lab.

Potter SS, Brunskill EW, Patterson LT. Defining the genetic blueprint of kidney development. Pediatr Nephrol. 2011 Feb 19.

Potter SS, Brunskill EW, Patterson LT. Microdissection of the gene expression codes driving nephrogenesis. Organogenesis. 2010 Oct-Dec;6(4):263-9.

Brunskill EW, Potter SS. Gene expression programs of mouse endothelial cells in kidney development and disease. PLoS One. 2010 Aug 10;5(8):e12034.

Georgas K, Rumballe B, Valerius MT, Chiu HS, Thiagarajan RD, Lesieur E, Aronow BJ, Brunskill EW, Combes AN, Tang D, Taylor D, Grimmond SM, Potter SS, McMahon AP, Little MH. Analysis of early nephron patterning reveals a role for distal RV proliferation in fusion to the ureteric tip via a cap mesenchyme-derived connecting segment. Dev Biol. 2009 332(2):273-86.

Brunskill EW, Aronow BJ, Georgas K, Rumballe B, Valerius MT, Aronow J, Kaimal V, Jegga AG, Yu J, Grimmond S, McMahon AP, Patterson LT, Little MH, Potter SS. Atlas of gene expression in the developing kidney at microanatomic resolution. Dev Cell. 2008 Nov;15(5):781-91. Erratum in: Dev Cell. 2009 Mar;16(3):482. Yu, Jing [added].

Adam M, Murali B, Glenn NO, Potter SS. Epigenetic inheritance based evolution of antibiotic resistance in bacteria. BMC Evol Biol. 2008 Feb 18;8:52.

Bennett MR, Czech KA, Arend LJ, Witte DP, Devarajan P, Potter SS. Laser capture microdissection-microarray analysis of focal segmental glomerulosclerosis glomeruli. Nephron Exp Nephrol. 2007;107(1):e30-40.

Potter SS, Hartman HA, Kwan KM, Behringer RR, Patterson LT. Laser capture-microarray analysis of Lim1 mutant kidney development. Genesis. 2007 Jul;45(7):432-9.

Song N, Schwab KR, Patterson LT, Yamaguchi T, Lin X, Potter SS, Lang RA. pygopus 2 has a crucial, Wnt pathway-independent function in lens induction. Development. 2007 May;134(10):1873-85.

Schwab KR, Patterson LT, Hartman HA, Song N, Lang RA, Lin X, Potter SS. Pygo1 and Pygo2 roles in Wnt signaling in mammalian kidney development. BMC Biol. 2007 Apr 10;5:15.

Schwab K, Hartman HA, Liang HC, Aronow BJ, Patterson LT, Potter SS. Comprehensive microarray analysis of Hoxa11/Hoxd11 mutant kidney development. Dev Biol. 2006 May 15;293(2):540-54.

Structure function relationships for the contractile proteins;  cardiac-specific gene manipulation in transgenic rabbits; the contractile protein myosin, and human heart failure; molecular studies of human valve disease

Visit the Robbins Lab.

Maloyan A, Sayegh J, Osinska H, Chua BH, Robbins J. Manipulation of death pathways in desmin-related cardiomyopathy. Circ Res. 2010 May 14;106(9):1524-32.

Terrell D, Robbins J. Protein conformation-based disease: getting to the heart of the matter. Annu Rev Physiol. 2010 Mar 17;72:15-7.

Maillet M, Davis J, Auger-Messier M, York A, Osinska H, Piquereau J, Lorenz JN, Robbins J, Ventura-Clapier R, Molkentin JD. Heart-specific deletion of CnB1 reveals multiple mechanisms whereby calcineurin regulates cardiac growth and function. J Biol Chem. 2010 Feb 26;285(9):6716-24.

Nakayama H, Bodi I, Correll RN, Chen X, Lorenz J, Houser SR, Robbins J, Schwartz A, Molkentin JD. alpha1G-dependent T-type Ca2+ current antagonizes cardiac hypertrophy through a NOS3-dependent mechanism in mice. J Clin Invest. 2009 Dec;119(12):3787-96. doi: 10.1172/JCI39724.

James J, Hor K, Moga MA, Martin LA, Robbins J. Effects of myosin heavy chain manipulation in experimental heart failure. J Mol Cell Cardiol. 2010 May;48(5):999-1006.

Heineke J, Wollert KC, Osinska H, Sargent MA, York AJ, Robbins J, Molkentin JD. Calcineurin protects the heart in a murine model of dilated cardiomyopathy. J Mol Cell Cardiol. 2010 Jun;48(6):1080-7.

Nakamura T, Gulick J, Pratt R, Robbins J. Noonan syndrome is associated with enhanced pERK activity, the repression of which can prevent craniofacial malformations. Proc Natl Acad Sci U S A. 2009 Sep 8;106(36):15436-41.

Nakamura T, Gulick J, Colbert MC, Robbins J. Protein tyrosine phosphatase activity in the neural crest is essential for normal heart and skull development. Proc Natl Acad Sci U S A. 2009 Jul 7;106(27):11270-5.

Gulick J, Robbins J. Cell-type-specific transgenesis in the mouse. Methods Mol Biol. 2009;561:91-104.

Nicolaou P, Rodriguez P, Ren X, Zhou X, Qian J, Sadayappan S, Mitton B, Pathak A, Robbins J, Hajjar RJ, Jones K, Kranias EG. Inducible expression of active protein phosphatase-1 inhibitor-1 enhances basal cardiac function and protects against ischemia/reperfusion injury. Circ Res. 2009 Apr 24;104(8):1012-20.

Clinical Interests

Eosinophilia; eosinophilic disorders; asthma; allergy; food allergy

Research Interests

Eosinophils; chemokines

Visit the Rothenberg Lab.

MD, PhD: Harvard Medical School, Cambridge, MA, 1990.

Residency: Pediatrics, Children's Hospital, Boston, MA, 1991-1992.

Fellowship: Immunology / Allergy, Children's Hospital, Boston, MA, 1992-1994; Hematology / Oncology, Children's Hospital and Dana Farber Cancer Institute, Boston, MA, 1992-1995.

Certification: National Board of Medical Examiners, 1991; Board of Registration in Medicine, MA, 1992; American Board of Pediatrics, 1995, 2001, 2008; Ohio State Medical Board, 1997; American Board of Allergy and Immunology, 1997, 2006.

Franciosi JP, Hommel KA, Debrosse CW, Greenberg AB, Greenler AJ, Abonia JP, Rothenberg ME, Varni JW. Quality of life in paediatric eosinophilic oesophagitis: what is important to patients? Child Care Health Dev. 2011.

Debrosse CW, Franciosi JP, King EC, Buckmeier Butz BK, Greenberg AB, Collins MH, Abonia JP, Assa'ad A, Putnam PE, Rothenberg ME. Long-term outcomes in pediatric-onset esophageal eosinophilia. J Allergy Clin Immunol. 2011.

Sherrill JD, Rothenberg ME. Genetic dissection of eosinophilic esophagitis provides insight into disease pathogenesis and treatment strategies. J Allergy Clin Immunol. 2011.

Liacouras CA, Furuta GT, Hirano I, Atkins D, Attwood SE, Bonis PA, Burks AW, Chehade M, Collins MH, Dellon ES, Dohil R, Falk GW, Gonsalves N, Gupta SK, Katzka DA, Lucendo AJ, Markowitz JE, Noel RJ, Odze RD, Putnam PE, Richter JE, Romero Y, Ruchelli E, Sampson HA, Schoepfer A, Shaheen NJ, Sicherer SH, Spechler S, Spergel JM, Straumann A, Wershil BK, Rothenberg ME, Aceves SS. Eosinophilic esophagitis: Updated consensus recommendations for children and adults. J Allergy Clin Immunol. 2011.

Baye TM, Butsch Kovacic M, Biagini Myers JM, Martin LJ, Lindsey M, Patterson TL, He H, Ericksen MB, Gupta J, Tsoras AM, Lindsley A, Rothenberg ME, Wills-Karp M, Eissa NT, Borish L, Khurana Hershey GK. Differences in Candidate Gene Association between European Ancestry and African American Asthmatic Children. PLoS One. 2011 Feb 28;6(2):e16522.

Blanchard C, Stucke EM, Rodriguez-Jimenez B, Burwinkel K, Collins MH, Ahrens A, Alexander ES, Butz BK, Jameson SC, Kaul A, Franciosi JP, Kushner JP, Putnam PE, Abonia JP, Rothenberg ME. A striking local esophageal cytokine expression profile in eosinophilic esophagitis. J Allergy Clin Immunol. 2011 Jan;127(1):208-17, 217.e1-7.

Zhu H, Perkins C, Mingler MK, Finkelman FD, Rothenberg ME. The role of neuropeptide S and neuropeptide S receptor 1 in regulation of respiratory function in mice. Peptides. 2011 Apr;32(4):818-25.

Sivaprasad U, Warrier MR, Gibson AM, Chen W, Tabata Y, Bass SA, Rothenberg ME, Khurana Hershey GK. IL-13Rα2 has a protective role in a mouse model of cutaneous inflammation. J Immunol. 2010 Dec 1;185(11):6802-8.

Miles MV, Putnam PE, Miles L, Tang PH, DeGrauw AJ, Wong BL, Horn PS, Foote HL, Rothenberg ME. Acquired coenzyme Q10 deficiency in children with recurrent food intolerance and allergies. Mitochondrion. 2011 Jan;11(1):127-35.

Lacy P, Willetts L, Kim JD, Lo AN, Lam B, Maclean EI, Moqbel R, Rothenberg ME, Zimmermann N. Agonist Activation of F-Actin-Mediated Eosinophil Shape Change and Mediator Release Is Dependent on Rac2. Int Arch Allergy Immunol. 2011;156(2):137-147. 

Liebig M, Schymik I, Mueller M, Wendel U, Mayatepek E, Ruiter J, Strauss AW, Wanders RJ, Spiekerkoetter U. (2006) Neonatal screening for very long-chain acyl-coA dehydrogenase deficiency: enzymatic and molecular evaluation of neonates with elevated C14:1-carnitine levels. Pediatrics 118:1065-9.

Khuchua Z, Yue Z, Batts L, Strauss AW. (2006) A zebrafish model of human Barth syndrome reveals the essential role of tafazzin in cardiac development and function. Circ Res 99:201-8.

Exil VJ, Gardner CD, Rottman JN, Sims H, Bartelds B, Khuchua Z, Sindhal R, Ni G, Strauss AW. (2006) Abnormal mitochondrial bioenergetics and heart rate dysfunction in mice lacking very-long-chain acyl-CoA dehydrogenase. Am J Physiol Heart Circ Physiol 290:H1289-97.

Bennett MJ, Russell LK, Tokunaga C, Narayan SB, Tan L, Seegmiller A, Boriack RL, Strauss AW. (2006) Reye-like syndrome resulting from novel missense mutations in mitochondrial medium- and short-chain l-3-hydroxy-acyl-CoA dehydrogenase. Mol Genet Metab 89:74-9.

Strauss AW. (2005) Surprising? Perhaps not. Long-chain fatty acid oxidation during human fetal development. Pediatr Res 57:753-4.

Spiekerkoetter U, Tokunaga C, Wendel U, Mayatepek E, Ijlst L, Vaz FM, van Vlies N, Overmars H, Duran M, Wijburg FA, Wanders RJ, Strauss AW. (2005) Tissue carnitine homeostasis in very-long-chain acyl-CoA dehydrogenase-deficient mice. Pediatr Res 57:760-4.

Shekhawat PS, Matern D, Strauss AW. (2005) Fetal fatty acid oxidation disorders, their effect on maternal health and neonatal outcome: impact of expanded newborn screening on their diagnosis and management. Pediatr Res 57:78R-86R.

Djouadi F, Aubey F, Schlemmer D, Ruiter JP, Wanders RJ, Strauss AW, Bastin J. (2005) Bezafibrate increases very-long-chain acyl-CoA dehydrogenase protein and mRNA expression in deficient fibroblasts and is a potential therapy for fatty acid oxidation disorders. Hum Mol Genet 14:2695-703.

Browning MF, Larson C, Strauss A, Marsden DL. (2005) Normal acylcarnitine levels during confirmation of abnormal newborn screening in long-chain fatty acid oxidation defects. J Inherit Metab Dis 28:545-50.

Strauss AW. (2004) Tandem mass spectrometry in discovery of disorders of the metabolome. J Clin Invest 113:354-6.

Spierkerkoetter U, Khuchua Z, Yue Z, Strauss AW. (2004) The early-onset phenotype of mitochondrial trifunctional protein deficiency: a lethal disorder with multiple tissue involvement. J Inherit Metab Dis 27:294-6.

Spiekerkoetter U, Tokunaga C, Wendel U, Mayatepek E, Exil V, Duran M, Wijburg FA, Wanders RJ, Strauss AW. (2004) Changes in blood carnitine and acylcarnitine profiles of very long-chain acyl-CoA dehydrogenase-deficient mice subjected to stress. Eur J Clin Invest 34:191-6.

Spiekerkoetter U, Khuchua Z, Yue Z, Bennett MJ, Strauss AW. (2004) General mitochondrial trifunctional protein (TFP) deficiency as a result of either alpha- or beta-subunit mutations exhibits similar phenotypes because mutations in either subunit alter TFP complex expression and subunit turnover. Pediatr Res 55:190-6.

Spiekerkoetter U, Bennett MJ, Ben-Zeev B, Strauss AW, Tein I. (2004) Peripheral neuropathy, episodic myoglobinuria, and respiratory failure in deficiency of the mitochondrial trifunctional protein. Muscle Nerve 29:66-72.

McKinney JT, Longo N, Hahn SH, Matern D, Rinaldo P, Strauss AW, Dobrowolski SF. (2004) Rapid, comprehensive screening of the human medium chain acyl-CoA dehydrogenase gene. Mol Genet Metab 82:112-20.

Strauss A, Lock JE. (2003) Pediatric cardiomyopathy--a long way to go. N Engl J Med 348:1703-5.

Spiekerkoetter U, Sun B, Zytkovicz T, Wanders R, Strauss AW, Wendel U. (2003) MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency. J Pediatr 143:335-42.

Spiekerkoetter U, Sun B, Khuchua Z, Bennett MJ, Strauss AW. (2003) Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations. Hum Mutat 21:598-607.

Shekhawat P, Bennett MJ, Sadovsky Y, Nelson DM, Rakheja D, Strauss AW. (2003) Human placenta metabolizes fatty acids: implications for fetal fatty acid oxidation disorders and maternal liver diseases. Am J Physiol Endocrinol Metab 284:E1098-105.

Khuchua Z, Wozniak DF, Bardgett ME, Yue Z, McDonald M, Boero J, Hartman RE, Sims H, Strauss AW. (2003) Deletion of the N-terminus of murine map2 by gene targeting disrupts hippocampal ca1 neuron architecture and alters contextual memory. Neuroscience 119:101-11.

Exil VJ, Roberts RL, Sims H, McLaughlin JE, Malkin RA, Gardner CD, Ni G, Rottman JN, Strauss AW. (2003) Very-long-chain acyl-coenzyme a dehydrogenase deficiency in mice. Circ Res 93:448-55.

Zytkovicz TH, Fitzgerald EF, Marsden D, Larson CA, Shih VE, Johnson DM, Strauss AW, Comeau AM, Eaton RB, Grady GF. (2001) Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program. Clin Chem 47:1945-55.

Ibdah JA, Paul H, Zhao Y, Binford S, Salleng K, Cline M, Matern D, Bennett MJ, Rinaldo P, Strauss AW. (2001) Lack of mitochondrial trifunctional protein in mice causes neonatal hypoglycemia and sudden death. J Clin Invest 107:1403-9.

Barycki JJ, O'Brien LK, Strauss AW, Banaszak LJ. (2000) Sequestration of the active site by interdomain shifting. Crystallographic and spectroscopic evidence for distinct conformations of L-3-hydroxyacyl-CoA dehydrogenase. J Biol Chem 275:27186-96.

Ibdah JA, Bennett MJ, Rinaldo P, Zhao Y, Gibson B, Sims HF, Strauss AW. (1999) A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women. N Engl J Med 340:1723-31.

Clinical Interests

Pulmonary alveolar proteinosis; cystic fibrosis; alpha-1 antitrypsin deficiency; other rare lung disorders

Research Interests

Alveolar macrophage function; molecular techniques using gene knockout, transgenic and conditional gene expression mouse models and non-human primates, in vitro and in vivo viral gene transfer, and bone marrow transplantation
 

MS: Genetics, The George Washington University, Washington, DC, 1981.

MD: University of Maryland School of Medicine, Baltimore, MD, 1984.

Residency: Internal Medicine, The Ohio State University Hospitals, Columbus, OH, 1987.

Fellowship: Pulmonary Medicine, Warren Grant Magnuson Clinical Center, National Institutes of Health, Bethesda, MD, 1989.

Certification: Diplomate in Internal Medicine, American Board of Internal Medicine, 1987; Diplomate, National Board of Medical Examiners, 1987; Diplomate in Pulmonary Medicine, American Board of Internal Medicine, 2000 .

Wu H, Suzuki T, Carey B, Trapnell BC, McCormack FX. Keratinocyte growth factor (KGF) augments pulmonary innate immunity through epithelium-driven, GM-CSF dependent paracrine activation of alveolar macrophages. J Biol Chem. 2011 Feb 22.

D'Mello S, Trauernicht A, Ryan A, Bonkowski E, Willson T, Trapnell BC, Frank SJ, Kugasathan S, Denson LA. Innate dysfunction promotes linear growth failure in pediatric Crohn's disease and growth hormone resistance in murine ileitis. Inflamm Bowel Dis. 2011 Feb 18.

Suzuki T, Sakagami T, Young LR, Carey BC, Wood RE, Luisetti M, Wert SE, Rubin BK, Kevill K, Chalk C, Whitsett JA, Stevens C, Nogee LM, Campo I, Trapnell BC. Hereditary pulmonary alveolar proteinosis: pathogenesis, presentation, diagnosis, and therapy. Am J Respir Crit Care Med. 2010 Nov 15;182(10):1292-304. 

Young LR, Vandyke R, Gulleman PM, Inoue Y, Brown KK, Schmidt LS, Linehan WM, Hajjar F, Kinder BW, Trapnell BC, Bissler JJ, Franz DN, McCormack FX. Serum vascular endothelial growth factor-D prospectively distinguishes lymphangioleiomyomatosis from other diseases. Chest. 2010 Sep;138(3):674-81.

Han X, Gilbert S, Groschwitz K, Hogan S, Jurickova I, Trapnell B, Samson C, Gully J. Loss of GM-CSF signalling in non-haematopoietic cells increases NSAID ileal injury. Gut. 2010 Aug;59(8):1066-78. 

Sakagami T, Beck D, Uchida K, Suzuki T, Carey BC, Nakata K, Keller G, Wood RE, Wert SE, Ikegami M, Whitsett JA, Luisetti M, Davies S, Krischer JP, Brody A, Ryckman F, Trapnell BC. Patient-derived granulocyte/macrophage colony-stimulating factor autoantibodies reproduce pulmonary alveolar proteinosis in nonhuman primates. Am J Respir Crit Care Med. 2010 Jul 1;182(1):49-61.

Carey B, Trapnell BC. The molecular basis of pulmonary alveolar proteinosis. Clin Immunol. 2010 May;135(2):223-35. 

Trapnell BC, Maguiness K, Graff GR, Boyd D, Beckmann K, Caras S. Efficacy and safety of Creon 24,000 in subjects with exocrine pancreatic insufficiency due to cystic fibrosis. J Cyst Fibros. 2009 Dec;8(6):370-7 

Trapnell BC, Carey BC, Uchida K, Suzuki T. Pulmonary alveolar proteinosis, a primary immunodeficiency of impaired GM-CSF stimulation of macrophages. Curr Opin Immunol. 2009 Oct;21(5):514-21.

Uchida K, Nakata K, Suzuki T, Luisetti M, Watanabe M, Koch DE, Stevens CA, Beck DC, Denson LA, Carey BC, Keicho N, Krischer JP, Yamada Y, Trapnell BC. Granulocyte/macrophage-colony-stimulating factor autoantibodies and myeloid cell immune functions in healthy subjects. Blood. 2009 Mar 12;113(11):2547-56. 

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