UAMS Pediatrics

• Professor, College of Medicine
• Professor, College of Medicine, Department of Pediatrics

Sections

• Genetics & Metabolism

Specialties

• Genetics

Contact Information

• Email:	KahlerStephenG@uams.edu
  Phone:	501-364-2966
  Fax:	501-364-1564
  Address:	Arkansas Children's Hospital
  	1 Children's Way
  	Little Rock, AR 72202

Education

• M.D., Duke University, 1973
• A.B., Princeton University, 1969

Training

• Chief Resident (5 months--shared chief res position), Pediatrics, University Hospital, 1975-1976
• Internship, Pediatrics, University Hospital, 1973-1974
• Resident , Pediatrics, University Hospital, 1974-1976
• Fellowship, Genetics, University of North Carolina School of Medicine, 1977-1980

Licensure and Board Certification

• American Board of Medical Specialties, Medical Genetics, Clinical Biochemical Genetics
• American Board of Medical Specialties, Medical Genetics, Clinical Genetics (M.D.)
• American Board of Medical Specialties, Pediatrics

Clinical & Research Interests

• Clinical Research, Translational Research, Birth defects, inborn errors of metabolism, autism (especially biochemical and nutritional aspects), and anything with a genetic component; Newborn screening

Recent Publications

• Journal Article, Sanmann JN;Bishay DL;Starr LJ;Bell CA;Pickering DL;Stevens JM;Kahler SG;Olney AH;Schaefer GB;Sanger WG; Characterization of six novel patients with MECP2 duplications due to unbalanced rearrangements of the X chromosome. Am J Med Genet A 2012 Jun 158A (6): 1285 - 1291.
• Journal Article, Nitschke Y;Baujat G;Botschen U;Wittkampf T;du MM;Stella J;Le MM;Guest G;Lambot K;Tazarourte-Pinturier MF;Chassaing N;Roche O;Feenstra I;Loechner K;Deshpande C;Garber SJ;Chikarmane R;Steinmann B;Shahinyan T;Martorell L;Davies J;Smith WE;Kahler SG;McCulloch M;Wraige E;Loidi L;Hohne W;Martin L;Hadj-Rabia S;Terkeltaub R;Rutsch F; Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. Am J Hum Genet 2012 Jan 13 90 (1): 25 - 39.
• Journal Article, Melnyk S;Fuchs GJ;Schulz E;Lopez M;Kahler SG;Fussell JJ;Bellando J;Pavliv O;Rose S;Seidel L;Gaylor DW;James SJ; Metabolic imbalance associated with methylation dysregulation and oxidative damage in children with autism. J Autism Dev Disord 2012 Mar 42 (3): 367 - 377.
• Journal Article, Ware SM;El-Hassan N;Kahler SG;Zhang Q;Ma YW;Miller E;Wong B;Spicer RL;Craigen WJ;Kozel BA;Grange DK;Wong LJ; Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes. J Med Genet 2009 May 46 (5): 308 - 314.
• Journal Article, Ware SM;El-Hassan N;Kahler SG;Zhang Q;Ma YW;Miller E;Wong B;Spicer RL;Craigen WJ;Kozel BA;Grange DK;Wong LJ; Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes. J Med Genet 2009 May 46 (5): 308 - 314.
• Journal Article, Stamm DS;Powell CM;Stajich JM;Zismann VL;Stephan DA;Chesnut B;Aylsworth AS;Kahler SG;Deak KL;Gilbert JR;Speer MC; Novel congenital myopathy locus identified in Native American Indians at 12q13.13-14.1. Neurology 2008 Nov 25 71 (22): 1764 - 1769.
• Journal Article, Stamm DS;Aylsworth AS;Stajich JM;Kahler SG;Thorne LB;Speer MC;Powell CM; Native American myopathy: congenital myopathy with cleft palate, skeletal anomalies, and susceptibility to malignant hyperthermia. Am J Med Genet A 2008 Jul 15 146A (14): 1832 - 1841.
• Journal Article, Arnold GL;Koeberl DD;Matern D;Barshop B;Braverman N;Burton B;Cederbaum S;Fiegenbaum A;Garganta C;Gibson J;Goodman SI;Harding C;Kahler S;Kronn D;Longo N; A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency. Mol Genet Metab 2008 Apr 93 (4): 363 - 370.
• Journal Article, Stamm DS;Powell CM;Stajich JM;Zismann VL;Stephan DA;Chesnut B;Aylsworth AS;Kahler SG;Deak KL;Gilbert JR;Speer MC; Novel congenital myopathy locus identified in Native American Indians at 12q13.13-14.1. Neurology 2008 Nov 25 71 (22): 1764 - 1769.
• Journal Article, Stamm DS;Aylsworth AS;Stajich JM;Kahler SG;Thorne LB;Speer MC;Powell CM; Native American myopathy: congenital myopathy with cleft palate, skeletal anomalies, and susceptibility to malignant hyperthermia. Am J Med Genet A 2008 Jul 15 146A (14): 1832 - 1841.