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Stephen Kahler

TitleProfessor
InstitutionUniversity of Arkansas for Medical Sciences
DepartmentPediatrics, College of Medicine
DivisionPeds Genetics
AddressG4010 ACH Administration
1900 Maryland Street
Mail Slot # 512-22
Little Rock AR 72202
Phone501-364-2966
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    Other Positions
    TitleProfessor
    InstitutionUniversity of Arkansas for Medical Sciences
    DepartmentGenetics, College of Medicine


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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. Delhey L, Kilinc EN, Yin L, Slattery J, Tippett M, Wynne R, Rose S, Kahler S, Damle S, Legido A, Goldenthal MJ, Frye RE. Bioenergetic variation is related to autism symptomatology. Metab Brain Dis. 2017 Aug 29. PMID: 28852932.
      View in: PubMed
    2. Helm BM, Powis Z, Prada CE, Casasbuenas-Alarcon OL, Balmakund T, Schaefer GB, Kahler SG, Kaylor J, Winter S, Zarate YA, Schrier Vergano SA. The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey. Am J Med Genet A. 2017 Aug 17. PMID: 28815955.
      View in: PubMed
    3. Delhey LM, Nur Kilinc E, Yin L, Slattery JC, Tippett ML, Rose S, Bennuri SC, Kahler SG, Damle S, Legido A, Goldenthal MJ, Frye RE. The Effect of Mitochondrial Supplements on Mitochondrial Activity in Children with Autism Spectrum Disorder. J Clin Med. 2017 Feb 13; 6(2). PMID: 28208802.
      View in: PubMed
    4. Sellars EA, Balmakund T, Bosanko K, Nichols BL, Kahler SG, Zarate YA. Severe Metabolic Acidosis and Hepatopathy due to Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate. Neuropediatrics. 2017 Apr; 48(2):108-110. PMID: 27875839.
      View in: PubMed
    5. Redin C, Brand H, Collins RL, Kammin T, Mitchell E, Hodge JC, Hanscom C, Pillalamarri V, Seabra CM, Abbott MA, Abdul-Rahman OA, Aberg E, Adley R, Alcaraz-Estrada SL, Alkuraya FS, An Y, Anderson MA, Antolik C, Anyane-Yeboa K, Atkin JF, Bartell T, Bernstein JA, Beyer E, Blumenthal I, Bongers EM, Brilstra EH, Brown CW, Brüggenwirth HT, Callewaert B, Chiang C, Corning K, Cox H, Cuppen E, Currall BB, Cushing T, David D, Deardorff MA, Dheedene A, D'Hooghe M, de Vries BB, Earl DL, Ferguson HL, Fisher H, FitzPatrick DR, Gerrol P, Giachino D, Glessner JT, Gliem T, Grady M, Graham BH, Griffis C, Gripp KW, Gropman AL, Hanson-Kahn A, Harris DJ, Hayden MA, Hill R, Hochstenbach R, Hoffman JD, Hopkin RJ, Hubshman MW, Innes AM, Irons M, Irving M, Jacobsen JC, Janssens S, Jewett T, Johnson JP, Jongmans MC, Kahler SG, Koolen DA, Korzelius J, Kroisel PM, Lacassie Y, Lawless W, Lemyre E, Leppig K, Levin AV, Li H, Li H, Liao EC, Lim C, Lose EJ, Lucente D, Macera MJ, Manavalan P, Mandrile G, Marcelis CL, Margolin L, Mason T, Masser-Frye D, McClellan MW, Mendoza CJ, Menten B, Middelkamp S, Mikami LR, Moe E, Mohammed S, Mononen T, Mortenson ME, Moya G, Nieuwint AW, Ordulu Z, Parkash S, Pauker SP, Pereira S, Perrin D, Phelan K, Aguilar RE, Poddighe PJ, Pregno G, Raskin S, Reis L, Rhead W, Rita D, Renkens I, Roelens F, Ruliera J, Rump P, Schilit SL, Shaheen R, Sparkes R, Spiegel E, Stevens B, Stone MR, Tagoe J, Thakuria JV, van Bon BW, van de Kamp J, van Der Burgt I, van Essen T, van Ravenswaaij-Arts CM, van Roosmalen MJ, Vergult S, Volker-Touw CM, Warburton DP, Waterman MJ, Wiley S, Wilson A, Yerena-de Vega MC, Zori RT, Levy B, Brunner HG, de Leeuw N, Kloosterman WP, Thorland EC, Morton CC, Gusella JF, Talkowski ME. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. Nat Genet. 2017 Jan; 49(1):36-45. PMID: 27841880.
      View in: PubMed
    6. Frye RE, Delhey L, Slattery J, Tippett M, Wynne R, Rose S, Kahler SG, Bennuri SC, Melnyk S, Sequeira JM, Quadros E. Blocking and Binding Folate Receptor Alpha Autoantibodies Identify Novel Autism Spectrum Disorder Subgroups. Front Neurosci. 2016; 10:80. PMID: 27013943; PMCID: PMC4783401.
    7. Frye RE, Cox D, Slattery J, Tippett M, Kahler S, Granpeesheh D, Damle S, Legido A, Goldenthal MJ. Mitochondrial Dysfunction may explain symptom variation in Phelan-McDermid Syndrome. Sci Rep. 2016 Jan 29; 6:19544. PMID: 26822410; PMCID: PMC4731780.
    8. Slattery J, MacFabe DF, Kahler SG, Frye RE. Enteric Ecosystem Disruption in Autism Spectrum Disorder: Can the Microbiota and Macrobiota be Restored? Curr Pharm Des. 2016; 22(40):6107-6121. PMID: 27592717.
      View in: PubMed
    9. May M, Hwang KS, Miles J, Williams C, Niranjan T, Kahler SG, Chiurazzi P, Steindl K, Van Der Spek PJ, Swagemakers S, Mueller J, Stefl S, Alexov E, Ryu JI, Choi JH, Kim HT, Tarpey P, Neri G, Holloway L, Skinner C, Stevenson RE, Dorsky RI, Wang T, Schwartz CE, Kim CH. ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons. Hum Mol Genet. 2015 Sep 01; 24(17):4848-61. PMID: 26056227; PMCID: PMC4527488.
    10. Frye RE, Slattery J, MacFabe DF, Allen-Vercoe E, Parker W, Rodakis J, Adams JB, Krajmalnik-Brown R, Bolte E, Kahler S, Jennings J, James J, Cerniglia CE, Midtvedt T. Approaches to studying and manipulating the enteric microbiome to improve autism symptoms. Microb Ecol Health Dis. 2015; 26:26878. PMID: 25956237; PMCID: PMC4425814.
    11. Lam C, Golas GA, Davids M, Huizing M, Kane MS, Krasnewich DM, Malicdan MCV, Adams DR, Markello TC, Zein WM, Gropman AL, Lodish MB, Stratakis CA, Maric I, Rosenzweig SD, Baker EH, Ferreira CR, Danylchuk NR, Kahler S, Garnica AD, Bradley Schaefer G, Boerkoel CF, Gahl WA, Wolfe LA. Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors. Mol Genet Metab. 2015 Jun-Jul; 115(2-3):128-140. PMID: 25943031.
      View in: PubMed
    12. Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R. Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges. Mitochondrion. 2014 Jan; 14(1):26-33. PMID: 23891656.
      View in: PubMed
    13. Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R, Anselm I, Collins A, Cohen BH, Debrosse SD, Dimmock D, Falk MJ, Ganesh J, Greene C, Gropman AL, Haas R, Kahler SG, Kamholz J, Kendall F, Korson MS, Mattman A, Milone M, Niyazov D, Pearl PL, Reimschisel T, Salvarinova-Zivkovic R, Sims K, Tarnopolsky M, Tsao CY, Van Hove J, Walsh L, Wolfe LA. Practice patterns of mitochondrial disease physicians in North America. Part 1: Diagnostic and clinical challenges. Mitochondrion. 2013.
    14. 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):1285-91. PMID: 22581587.
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    15. 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):367-77. PMID: 21519954; PMCID: PMC3342663.
    16. Nitschke Y, Baujat G, Botschen U, Wittkampf T, du Moulin M, Stella J, Le Merrer M, 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, Höhne 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. PMID: 22209248; PMCID: PMC3257960.
    17. 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):1832-41. PMID: 18553514.
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    18. 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):363-70. PMID: 18155630.
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    19. Hur DJ, Raymond GV, Kahler SG, Riegert-Johnson DL, Cohen BA, Boyadjiev SA. A novel MGP mutation in a consanguineous family: review of the clinical and molecular characteristics of Keutel syndrome. Am J Med Genet A. 2005 May 15; 135(1):36-40. PMID: 15810001.
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    20. Peters H, Nefedov M, Sarsero J, Pitt J, Fowler KJ, Gazeas S, Kahler SG, Ioannou PA. A knock-out mouse model for methylmalonic aciduria resulting in neonatal lethality. J Biol Chem. 2003 Dec 26; 278(52):52909-13. PMID: 14555645.
      View in: PubMed
    21. Nugent AW, Daubeney PE, Chondros P, Carlin JB, Cheung M, Wilkinson LC, Davis AM, Kahler SG, Chow CW, Wilkinson JL, Weintraub RG. The epidemiology of childhood cardiomyopathy in Australia. N Engl J Med. 2003 Apr 24; 348(17):1639-46. PMID: 12711738.
      View in: PubMed
    22. Kahler SG, Fahey MC. Metabolic disorders and mental retardation. Am J Med Genet C Semin Med Genet. 2003 Feb 15; 117C(1):31-41. PMID: 12561056.
      View in: PubMed
    23. Peters HL, Nefedov M, Lee LW, Abdenur JE, Chamoles NA, Kahler SG, Ioannou PA. Molecular studies in mutase-deficient (MUT) methylmalonic aciduria: identification of five novel mutations. Hum Mutat. 2002 Nov; 20(5):406. PMID: 12402345.
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    24. Pitt JJ, Eggington M, Kahler SG. Comprehensive screening of urine samples for inborn errors of metabolism by electrospray tandem mass spectrometry. Clin Chem. 2002 Nov; 48(11):1970-80. PMID: 12406983.
      View in: PubMed
    25. Collins V, Halliday J, Kahler S, Williamson R. Parents' experiences with genetic counseling after the birth of a baby with a genetic disorder: an exploratory study. 2001; 10:53 - 72.
    26. Van Hove JL, Kishnani PS, Demaerel P, Kahler SG, Miller C, Jaeken J, Rutledge SL. Acute hydrocephalus in nonketotic hyperglycemia. Neurology. 2000; 54(3):754 - 756.
    27. Kahler SG. Galactosaemia in Chinese [editorial; comment] [see comments]. 1999; 35(4):339 - 440.
    28. Helali N, Iafolla AK, Kahler SG, Qumsiyeh MB. A case of duplication of 13q32-->qter and deletion of 18p11.32-->pter with mild phenotype: Patau syndrome and duplications of 13q revisited. J Med Genet. 1996; 33(7):600 - 602.
    29. Kishnani P, Iafolla AK, McConkie-Rosell A, Van Hove JL, Kanter RJ, Kahler SG. Hemangioma, supraumbilical midline raphe, and coarctation of the aorta with a right aortic arch: single causal entity?. Am J Med Genet. 1995; 59(1):44 - 48.
    30. Winter SS, Chaffee S, Kahler SG, Graham ML. epsilon-Aminocaproic acid-associated myopathy in a child. J Pediatr Hematol Oncol. 1995; 17(1):53 - 55.
    31. Kliewer MA, Kahler SG, Hertzberg BS, Bowie JD. Fetal biometry in the Brachmann-de Lange syndrome. Am J Med Genet. 1993; 47(7):1035 - 1041.
    32. Iafolla AK, Kahler SG, Chen YT. Low plasma citrulline concentrations during protein restriction in an unaffected infant at risk for ornithine transcarbamylase deficiency. J Pediatr. 1992; 120(3):496 - 497.
    33. Pettenati MJ, Wheeler M, Bartlett DJ, Subrt I, Rao N, Kroovand RL, Burton BK, Kahler S, Park HK, Cosper P, . 45,X/47,XYY mosaicism: clinical discrepancy between prenatally and postnatally diagnosed cases. Am J Med Genet. 1991; 39(1):42 - 47.
    34. Murphy DF, Kahler SG. Medical research and a tuberous sclerosis support group. Ann N Y Acad Sci. 1991; 615:370 - 371.
    35. Park HK, Kahler SG, Chen YT. Brain abscess in glycogen storage disease type Ib [see comments]. 1991; 80:1103 - 1106.
    36. Kahler SG. Letter to: Pediatrics. 1991. 1991; (5):744 - .
    37. Flannery DB, Kahler SG. Neural tube defects in trisomy 18. Prenat Diagn. 1986; 6(2):97 - 99.
    38. Greene WB, Kahler SG. Hypophosphatemic rickets: still misdiagnosed and inadequately treated. South Med J. 1985; 78(10):1179 - 1184.
    39. Greene WB, Kahler SG. Surgical aspects of limb deformity in hypophosphatemic rickets. South Med J. 1985; 78(10):1185 - 1189.
    40. Roe CR, Millington DS, Maltby DA, Bohan TP, Kahler SG, Chalmers RA. Diagnostic and therapeutic implications of medium-chain acylcarnitines in the medium-chain acyl-coA dehydrogenase deficiency. Pediatr Res. 1985; 19(5):459 - 466.
    41. Roe CR, Millington DS, Maltby DA, Kahler SG. Successful hyperalimentation in propionic acidemia. 1984; 36:18S - .
    42. Robinson BH, Taylor J, Kahler SG, Kirkman HN. Lactic acidemia, neurologic deterioration and carbohydrate dependence in a girl with dihydrolipoyl dehydrogenase deficiency. Eur J Pediatr. 1981; 136(1):35 - 39.
    43. Wolf JW, Kahler SG. Atlanto-axial rotatory fixation associated with the 18q- syndrome. Case report. J Bone Joint Surg Am. 1980; 62(2):295 - 297.
    44. Kahler SG, Riley E. Inherited parkinsonism. Clin Genet. 1979; 15(1):110 - 111.
    45. Mellon M, Incaudo GI, Kahler S, Hamburger RN, Nyhan WL. An approach to the treatment of asthma. West J Med. 1978; 128(5):408 - 418.
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