StephenKahlerMD

PubMed

• "Exogenous" 5 Alpha Reductase Deficiency: A Case Report.
  Brittany Levy, Seth Teplitsky, Evangelia Kalaitzoglou, Stephen Kahler, Juliann Paige Matheny, Amanda F Saltzman> ;Urology. 2023 Aug 1
• 12 citations
  Inheritance of HLA-Cw7 Associated With Autism Spectrum Disorder (ASD).
  Terry Harville, Bobbie Rhodes-Clark, Sirish C. Bennuri, Leanna Delhey, John Slattery, Marie Tippett, Rebecca Wynne, Shannon Rose, Stephen G. Kahler, Richard E. Frye> ;Frontiers in Psychiatry. 2019 Sep 11
• 62 citations
  Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
  Priya S. Kishnani, Jennifer L. Goldstein, Stephanie Austin, Pamela Arn, Bert Bachrach, Deeksha Bali, Wendy K. Chung, Areeg El-Gharbawy, Laurie M. Brown, Stephen G. Kah...> ;Genetics in Medicine. 2019 Jan 19
• 13 citations
  LINE- and Alu-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV.
  Przemyslaw Szafranski, Ewelina Kośmider, Qian Liu, Justyna A. Karolak, Lauren Currie, Sandhya Parkash, Stephen G. Kahler, Elizabeth Roeder, Rebecca O. Littlejohn, Thom...> ;Human Mutation. 2018 Dec 1
• 115 citations
  Clinical and Molecular Characteristics of Mitochondrial Dysfunction in Autism Spectrum Disorder.
  Shannon Rose, Dmitriy Niyazov, Daniel A. Rossignol, Michael J. Goldenthal, Stephen G. Kahler, Richard E. Frye> ;Molecular Diagnosis & Therapy. 2018 Oct 1
• 14 citations
  Level of residual enzyme activity modulates the phenotype in phosphoglycerate kinase deficiency.
  John Vissing, H. Orhan Akman, Jan Aasly, Stephen G. Kahler, Carlos A. Bacino, S. DiMauro, Ronald G. Haller> ;Neurology. 2018 Sep 11
• 38 citations
  Intravenous immunoglobulin for the treatment of autoimmune encephalopathy in children with autism
  Kathleen Connery, Marie Tippett, Leanna Delhey, Shannon Rose, John Slattery, Stephen G. Kahler, Juergen Hahn, Uwe Kruger, Madeleine W. Cunningham, Craig Shimasaki, Ric...> ;Translational Psychiatry. 2018 Aug 10
• 114 citations
  Butyrate enhances mitochondrial function during oxidative stress in cell lines from boys with autism.
  Shannon Rose, Sirish C. Bennuri, Jakeira E. Davis, Rebecca Wynne, John Slattery, Marie Tippett, Leanna Delhey, S Melnyk, Stephen G. Kahler, Derrick F. MacFabe, Richard...> ;Translational Psychiatry. 2018 Feb 2
• 21 citations
  Bioenergetic variation is related to autism symptomatology.
  Leanna Delhey, Ekim Nur Kilinc, Li Yin, John Slattery, Marie Tippett, Rebecca Wynne, Shannon Rose, Stephen G. Kahler, Shirish Damle, Agustin Legido, Michael J. Goldent...> ;Metabolic Brain Disease. 2017 Aug 29
• 13 citations
  The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey.
  Benjamin M. Helm, Zöe Powis, Carlos E. Prada, Olga L. Casasbuenas‐Alarcon, Tonya Balmakund, G B Schaefer, Stephen G. Kahler, Julie Kaylor, Susan Winter, Yuri A. Zarate...> ;American Journal of Medical Genetics. Part A. 2017 Aug 17
• 5 citations
  Severe Metabolic Acidosis and Hepatopathy due to Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate.
  Elizabeth A. Sellars, Tonya Balmakund, Katherine A. Bosanko, Brandi L. Nichols, Stephen G. Kahler, Yuri A. Zarate> ;Neuropediatrics. 2016 Nov 22
• 26 citations
  Thyroid dysfunction in children with autism spectrum disorder is associated with folate receptor α autoimmune disorder
  Richard E. Frye, Rebecca Wynne, Shannon Rose, John Slattery, Leanna Delhey, Marie Tippett, Stephen G. Kahler, Sirish C. Bennuri, S Melnyk, Jeffrey M. Sequeira, Edward ...> ;Journal of Neuroendocrinology. 2017 Mar 1
• 27 citations
  The Effect of Mitochondrial Supplements on Mitochondrial Activity in Children with Autism Spectrum Disorder
  Leanna Delhey, Ekim Nur Kilinc, Li Yin, John Slattery, Marie Tippett, Shannon Rose, Sirish C. Bennuri, Stephen G. Kahler, Shirish Damle, Agustin Legido, Michael J. Gol...> ;Journal of Clinical Medicine. 2017 Feb 13
• 16 citations
  Enteric Ecosystem Disruption in Autism Spectrum Disorder: Can the Microbiota and Macrobiota be Restored?
  John Slattery, Derrick F. MacFabe, Stephen G. Kahler, Richard E. Frye> ;Current Pharmaceutical Design. 2016 Oct 31
• 74 citations
  Modulation of mitochondrial function by the microbiome metabolite propionic acid in autism and control cell lines.
  Richard E. Frye, Shannon Rose, J Chacko, Rebecca Wynne, Sirish C. Bennuri, John Slattery, Marie Tippett, Leanna Delhey, S Melnyk, Stephen G. Kahler, Derrick F. MacFabe> ;Translational Psychiatry. 2016 Oct 25
• 45 citations
  Blocking and Binding Folate Receptor Alpha Autoantibodies Identify Novel Autism Spectrum Disorder Subgroups.
  Richard E. Frye, Leanna Delhey, John Slattery, Marie Tippett, Rebecca Wynne, Shannon Rose, Stephen G. Kahler, Sirish C. Bennuri, Stepan Melnyk, Jeffrey M. Sequeira, Ed...> ;Frontiers in Neuroscience. 2016 Mar 9
• 34 citations
  Mitochondrial Dysfunction may explain symptom variation in Phelan-McDermid Syndrome
  Richard E. Frye, Devin M. Cox, John Slattery, Marie Tippett, Stephen G. Kahler, Doreen Granpeesheh, Shirish Damle, Agustin Legido, Michael J. Goldenthal> ;Scientific Reports. 2016 Jan 29
• 40 citations
  ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons
  Melanie May, Kyu Seok Hwang, Judith H. Miles, Charles A. Williams, Tejasvi Niranjan, Stephen G. Kahler, Pietro Chiurazzi, Katharina Steindl, Peter J. van der Spek, Sig...> ;Human Molecular Genetics. 2015 Sep 1
• 37 citations
  Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors.
  Christina Lam, Gretchen Golas, Mariska Davids, Marjan Huizing, Megan S. Kane, Donna M. Krasnewich, May Christine V. Malicdan, David R. Adams, Thomas C. Markello, Wadih...> ;Molecular Genetics and Metabolism. 2015 Jun 1
• 44 citations
  Approaches to studying and manipulating the enteric microbiome to improve autism symptoms.
  Richard E. Frye, John Slattery, Derrick F. MacFabe, Emma Allen-Vercoe, William Parker, John Rodakis, James B. Adams, Rosa Krajmalnik-Brown, Ellen Bolte, Stephen G. Kah...> ;Microbial Ecology in Health and Disease. 2015 May 7
• 30 citations
  Practice patterns of mitochondrial disease physicians in North America. Part 1: Diagnostic and clinical challenges
  Sumit Parikh, Amy Goldstein, Mary Kay Koenig, Fernando Scaglia, Gregory M. Enns, Russell P. Saneto, Irina Anselm, Abigail Collins, Bruce H. Cohen, Suzanne D. DeBrosse,...> ;Mitochondrion. 2014 Jan 1
• 21 citations
  Characterization of six novel patients with MECP2 duplications due to unbalanced rearrangements of the X chromosome
  Jennifer N. Sanmann, Danielle L. Bishay, Lois J. Starr, Carla A. Bell, Diane L. Pickering, Jadd M. Stevens, Stephen G. Kahler, Ann Haskins Olney, G. Bradley Schaefer, ...> ;American Journal of Medical Genetics. Part A. 2012 Jun 1
• 173 citations
  Metabolic Imbalance Associated with Methylation Dysregulation and Oxidative Damage in Children with Autism
  Stepan Melnyk, George J. Fuchs, Eldon G. Schulz, Maya Lopez, Stephen G. Kahler, Jill J. Fussell, Jayne Bellando, Oleksandra Pavliv, Shannon Rose, Lisa Seidel, David W....> ;Journal of Autism and Developmental Disorders. 2012 Mar 1
• 222 citations
  Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Can Be Caused by Mutations in Either ENPP1 or ABCC6
  Yvonne Nitschke, Geneviève Baujat, Ulrike Botschen, Tanja Wittkampf, Marcel du Moulin, Jacqueline Stella, Martine Le Merrer, Guest G, K Lambot, Marie-Frederique Tazaro...> ;American Journal of Human Genetics. 2012 Jan 13
• 66 citations
  Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes
  Stephanie M. Ware, Nahed O. ElHassan, Stephen G. Kahler, Q. Zhang, Y. W. Ma, Erin M. Miller, Brenda Wong, Robert L Spicer, William J. Craigen, Beth A. Kozel, Dorothy K...> ;Journal of Medical Genetics. 2009 May 1
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Journal Articles

• ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons  
  May M, Hwang KS, Miles J, Williams C, Niranjan T, Kahler SG, et al., Hum Mol Genet, 1/1/2015
• Mitochondrial Medicine Society Clinical Directors Working Group; Clinical Director's WorkGroup Practice patterns of mitochondrial disease physicians in North America P...  
  Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R, Mitochondrion, 1/1/2013
• Characterization of six novel patients with MECP2 duplications due to unbalanced rearrangements of the X chromosome  
  Sanmann JN, Bishay DL, Starr LJ, Bell CA, Pickering DL, Stevens JM, Kahler SG, Olney AH, Schaefer GB, Sanger WG, Am J Med Genet A, 1/1/2012
• Autism and environmental genomics  
  Herbert MR, Russo JP, Yang S, Roohi J, Blaxill M, Kahler SG, Cremer L, Hatchwell E, Neurotoxicology, 1/1/2006
• Metabolic disorders and mental retardation  
  Kahler SG, Fahey MC, Am J Med Genet C Semin Med Genet, 1/1/2003
• Parents' experiences with genetic counseling after the birth of a baby with a genetic disorder: an exploratory study  
  Collins V, Halliday J, Williamson R, Journal of Genetic Counseling, 1/1/2001
• Acute hydrocephalus in nonketotic hyperglycemia  
  Van Hove JL, Kishnani PS, Demaerel P, Kahler SG, Miller C, Jaeken J, Rutledge SL, Neurology, 1/1/2000
• Acute hydrocephalus in nonketotic hyperglycinemia  
  Ahmad A, Kishnani PS, Artigas-Lopez M, Pappu AS, Steiner R, Millington DS, Van Hove JL, Neurology, 1/1/1999
• Galactosaemia in Chinese  
  Kahler SG, J Paediatr Child Health, 1/1/1999
• A case of duplication of 13q32-->qter and deletion of 18p1132-->pter with mild phenotype: Patau syndrome and duplications of 13q revisited  
  Helali N, Iafolla AK, Qumsiyeh MB, J Med Genet, 1/1/1996
• epsilon-Aminocaproic acid-associated myopathy in a child  
  Winter SS, Chaffee S, Kahler SG, Graham ML, J Pediatr Hematol Oncol, 1/1/1995
• Infantile sialic acid storage disease: a rare cause of cytoplasmic vacuolation in pediatric patients  
  Hale LP, van de Ven CJ, Wenger DA, Bradford WD, Pediatr Pathol Lab Med, 1/1/1995
• Fetal biometry in the Brachmann-de Lange syndrome  
  Kliewer MA, Hertzberg BS, Bowie JD, Am J Med Genet, 1/1/1993
• Book Review: Atlas of Clinical Syndromes, (Wiedemann HR, Kuntze, J, Grosse, F-R, and Dibbern H St Louis Mosby-Year Book, 1989)  
  Kahler SG, JAMA, 1/1/1993
• Book Review: The Genetic Basis of Common Diseases, Oxford Monographs on Medical Genetics, vol 20, (King, RA, Rotter, JI, Motulsky, A Oxford University Press, 1992)  
  Kahler SG, JAMA, 1/1/1993
• Low plasma citrulline concentrations during protein restriction in an unaffected infant at risk for ornithine transcarbamylase deficiency  
  Iafolla AK, Chen YT, J Pediatr, 1/1/1992
• Unbalanced translocation 46,XY,-15, +der(22)t(15;22)(q13;q11)pat: case report and review of the literature  
  Van Hove JL, McConkie-Rosell A, Chen YT, Iafolla AK, Lanman JT, Jr., Hennessy MD, Am J Med Genet, 1/1/1992
• Medical research and a tuberous sclerosis support group  
  Murphy DF, Kahler SG, Ann N Y Acad Sci, 1/1/1991
• Brain abscess in glycogen storage disease type Ib  
  Park HK, Chen YT, Acta Paediatr Scand, 1/1/1991
• Book Review: The Metabolic Basis of Inherited Disease, 6th ed (Scriver, CR, Beaudet, AL, Sly, WS, and Valle, D, eds New York, McGraw-Hill, 1989)  
  Kahler SG, N Engl J Med, 1/1/1991
• Neural tube defects in trisomy 18  
  Flannery DB, Kahler SG, Prenat Diagn, 1/1/1986
• Diagnostic and therapeutic implications of medium-chain acylcarnitines in the medium-chain acyl-coA dehydrogenase deficiency  
  Roe CR, Millington DS, Maltby DA, Bohan TP, Chalmers RA, Pediatr Res, 1/1/1985
• Surgical aspects of limb deformity in hypophosphatemic rickets  
  Greene WB, Kahler SG, South Med J, 1/1/1985
• Hypophosphatemic rickets: still misdiagnosed and inadequately treated  
  Greene WB, Kahler SG, South Med J, 1/1/1985
• Lactic acidemia, neurologic deterioration and carbohydrate dependence in a girl with dihydrolipoyl dehydrogenase deficiency  
  Robinson BH, Taylor J, Kirkman HN, Eur J Pediatr, 1/1/1981
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Books/Book Chapters

• Inherited Metabolic Diseases 
  Chapter: Approach to the Patient with Cardiovascular Disease 
  Kreuder J, Kahler SGEditors: Hoffmann GF, Zschocke J, Nyhan WL.Springer, Heidelberg2010
• Inherited Metabolic Diseases 
  Chapter: Gastrointestinal and General Abdominal Symptoms 
  Kahler SGEditors: Hoffmann GF, Zschocke J, Nyhan WL.Springer, Heidelberg2010
• Inherited Metabolic Diseases 
  Chapter: Metabolic Myopathies 
  Kahler SGEditors: Hoffmann GF, Zschocke J, Nyhan WL.Springer, Heidelberg2010
• Oski’s Pediatrics: Principles and Practice 
  Chapter: Newborn Screening 
  Kahler, S.G.Editors: J.A. McMillan, C.D. DeAngelis, R.D. Feigin, and J.B. Warshaw.Lippincott Williams and Wilkins, PhiladelphiaEdition 4th,2006
• Pediatric Handbook (Royal Children’s Hospital, Melbourne, VIC) 
  Chapter: Metabolic Conditions (including hypoglycaemia) 
  Boneh, A., Price, G., Kahler, S.G., and Werther, G.Editors: Georgia Paxton, Jane Munro and Dominic Wilkinson.Blackwell Science, Carlton South, Victoria, AustraliaEdition 7th,2005
• Rudolph’s Pediatrics 
  Chapter: Inherited Metabolic Disorders with Dysmorphic Features 
  Peters, H. L. and Kahler, S.G.Editors: C.D. Rudolph, A.M. Rudolph, M.K.Hostetter, G. Lister, and N.J. Siegel.McGraw-Hill, New YorkEdition 21st,2003
• Inherited Metabolic Diseases 
  Hoffmann GF, Nyhan WL, Zschocke J, Kahler SG, Mayatepek ELippincott Williams & Wilkins, Philadelphia2002
• Pediatric Handbook (Royal Children’s Hospital, Melbourne, VIC) 
  Chapter: Metabolic Conditions 
  Boneh, A. and Kahler, S.G.Editors: J. Smart and T. Nolan.Blackwell Science Asia, Carlton South, Victoria, AustraliaEdition 6th,2000
• The Epilepsies. Etiologies and Prevention 
  Chapter: Chapter 59: Neonatal Metabolic Disorders 
  Kahler, S.G.Editors: P. Kotagal and H.O.Luders.Academic Press, San Diego1999
• Inborn Errors of Metabolism 
  Chapter: Carnitine and the organic acidurias 
  Roe, C.R., Millington, D.S., Kahler, S.G., Kodo, N., Norwood, D.L.Editors: J. Schaub, F. Van Hoof and H.L. Vis.Raven Press, N.Y.1991
• Treatment of Genetic Diseases 
  Chapter: Chapter 4: Therapeutic Applications of L-Carnitine in Metabolic Disorders 
  Roe, C.R., Millington, D.S., Kahler, S.G., Kodo, N., Norwood, D.L.Editors: R.J. Desnick.Churchill Livingstone Inc., New York1991
• Birth Defects Encyclopedia 
  Chapter: Osteoporosis, mild recessive 
  Kahler, S.G.Editors: M.L. Buyse.Blackwell Scientific Publica­tions, Cambridge, MA1990
• Birth Defects Encyclopedia 
  Chapter: Adenylosuccinate Monophophate Lyase Deficiency 
  Kahler, S.G.Editors: M.L. Buyse.Blackwell Scientific Publica­tions, Cambridge, MA1990
• Enzymes of Fatty Acid Oxidation and Their Genetic Defects 
  Chapter: Carnitine homeostasis in the organic acidurias 
  Roe, C.R., Millington, D.S., Kahler S.G., Kodo, N., Norwood, D.L.Editors: P. Coates and K. Tanaka.Alan R. Liss, Inc., N.Y.1990
• Pediatric Neurology 
  Chapter: Chapter 9: Inherited Metabolic Diseases of the Nervous System 
  Greenwood, R.S., Kahler, S.G. and Aylsworth, A.S.Editors: Farmer, T.Harper & Row, BaltimoreEdition 3rd,1983
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Abstracts/Posters

• Second family with multiple congenital anomalies-hypotonia-seizures syndrome 3 due to mutations in PIGT: A report of a newly described disorder of glycosylation
  Danylchuk, N.R., Lam, C., Wolfe, L., Golas, G., Krasnewich, D., Zein, W.M., Adams, D., Gahl, W., Kahler, S.G., Garnica, A.D., Schaefer, G.B., American College of Medical Genetics annual meeting, Salt Lake City, 1/24/2015
• Analysis of urinary organic acids by GC tandem mass spectrometry for the accurate diagnosis of inborn errors of metabolism
  Bates-Dubrow, L.G., Soderberg, F.B., Wheat, A.G., Whittecar, P., Daniel, A., Sparks, C., Wheat, L., Permenter, J., American Society of Mass Spectrometry annual meeting, Las Vegas, 1/1/2010
• Accurate mouse models for methylmalonic aciduria
  Peters, H., Nefedov, M., Sarsero, J., Pitt, J., Gazeas, S., Voulaire, L., Fowler, K., Kahler, S., Ioannou, P, IXth International Congress on Inborn Errors of Metabolism, Brisbane, Australia, 1/2/2006
• Genome-wide SNP chip homozygosity mapping defines critical region for Native American Myopathy
  Stamm, D., Powell, C., Kahler, S., Aylsworth, A., Deak, K., West, S., Craig, D., Lince, D., Stephan, D., Gilbert, J., Speer, M., American Society of Human Genetics 55th annual meeting, Salt Lake City, 1/26/2005
• Peptiduria in autism and related disorders: An exploratory study
  Cooper, E., Gaylor, D., American Society of Human Genetics 55th annual meeting, Salt Lake City, 1/26/2005
• Autism and Environmental Genomics
  Herbert M.R., Russo, J.R., Blaxill, M., Kahler, S.G., Ziegler, D.A., Hatchwell, E., International Meeting for Autism Research (IMFAR), Boston, 1/5/2005
• Peptiduria in autism and related disorders: An exploratory study
  Kahler, S.G., Cooper, E, American College of Medical Genetics annual meeting; International Meeting for Autism Research (IMFAR), Dallas, 2005; Boston, 2005, 1/5/2005
• Dystrophic calcification of the fetal myocardium
  Rowlands S, Sampson A, International Society for Ultrasound in Obstetrics and Gynecology, 1/1/2001
• Molecular characterisation of mutase-deficient methylmalonic aciduria
  Peters, H., Kahler, S., Nefedov, M., Ioannou, P, VIII International Congress of Inborn Errors of Metabolism, Cambridge, UK, 1/13/2000
• Genotype-phenotype correlation in a Samoan patient with biotin-resistant multiple carboxylase deficiency
  Peters, H., Zammarchi, E., Malvagia, S., Morrone, A., Craig, J., Kahler, S., Boneh, A., VIII International Congress of Inborn Errors of Metabolism, Cambridge, UK, 1/13/2000
• Tandem mass spectrometry and the clinician
  Van Hove, J.L.K., Millington, D.S., Australasian Society for Inborn Errors of Metabolism, 12th annual meeting, Melbourne, 1/8/1998
• MCAD deficiency: asymptomatic A985G homozygosity and pregnancy loss
  Hart, K., Kahler, S., Ding, J.-H., Roe, C., Andresen, B., Gregersen, N., and Packman, S., American Society of Human Genetics, San Francisco, CA, 1/29/1996
• Abnormal genital development in XY neonates associated with severe placental insufficiency and chronic intrauterince growth restriction
  Nesbitt, T.H., Bodine, C.L., Kahler, S.G., and Decker-Phillips, M., 46th annual meeting, American Society of Human Genetics, San Francisco, CA, 1/29/1996
• Microscopically visible deletion of chromosome 7 in child with features of the Williams syndrome
  Kahler, S.G., Adhvaryu, S.G., Helali, N., and Qumsiyeh, M.B., 16th David W. Smith Workshop on Malformations and Morphogenesis, Big Sky, MT, 1/30/1995
• Microscopically visible deletion of chromosome 7 in a child with features of Williams syndrome
  Adhvaryu, S.G., Helali, N., and Qumsiyeh, M.B., 45th annual meeting, American Society of Human Genetics, Minneapolis, MN, 1/24/1995
• Balanced translocations and congenital anomalies revisited
  Qumsiyeh, M.B., DeLong, R., Freemark, M., Kahler, S.G., and Adhvaryu, S.G., 45th annual meeting, American Society of Human Genetics, Minneapolis, MN, 1/24/1995
• The cost of having medium-chain acyl-CoA dehydrogenase deficiency
  Kahler, S.G. and Ciccolella, J., 33rd annual meeting, Society for the Study of Inborn Errors of Metabolism (SSIEM), Toledo, Spain, 1/12/1995
• Carnitine acylcarnitine translocase deficiency: Benign course without cardiac involvement
  Dionisi-Vici C., Garavaglia G., Bandle A., Invermizzi F., DiDonato S., Sabetta G., Kahler, S.G., Millington, D.S., APS-SPR meeting, 1/1/1995
• Glycogen storage in Niemann-Pick disease type I-S
  Kahler, S.G., Milov, D.J., and Chen, Y.-T., VIth International Congress of Inborn Errors of Metabolism, Milano, Italy, 1/27/1994
• Severe infantile lactic acidosis and pancreatitis in a boy heteroplasmic for mt3243 (tRNALeu) mutation
  Kahler, S.G., Kishnani, P., Helali, A., and Riel, R., American Society of Human Genetics, Montreal, P.Q., Canada, 1/18/1994
• Hemangioma, supraumbilical midline raphe, and coarctation of right aortic arch: A continuous spectrum?
  Kishnani, P., Iafolla, A.K., McConkie-Rosell, A., Van Hove, J., 15th David W. Smith Workshop on Malformations and Morphogenesis, Tampa, FL, 1/4/1994
• Skeletal dysplasias and immune deficiency
  Kahler, S.G., and Schiff, R.I., 15th David W. Smith Workshop on Malformations and Morphogenesis, Tampa, FL, 1/4/1994
• New diagnostic findings in carboyhdrate-deficient glycoprotein syndrome
  Harrison, H., Baron, B., Horwitz, A., Macchia, P., Refetoff, S., Scherberg, N., Harbison, M., Slonim, A., Natowicz, M., Lafayette, D., van Hove, J., Society for Inherited Metabolic Diseases, Pacific Grove, California, 1/14/1993
• Cardiac glycogen storage disease with encephalopathy
  Kishnani, P., Van Hove, J., Chen, Y.-T., Steenbergen, C., O’Brien, T., May, W., Ward, J., Society for Inherited Metabolic Diseases, Pacific Grove, California, 1/14/1993
• New diagnostic abnormalities in carbohydrate-deficient glycoprotein syndrome
  Harrison, H., Burou, B., Horwitz, A., Macchia, P., Refetoff, S., Scherberg, N., Harbison, M., Slonim, A., Natowicz, M., American Society of Human Genetics, San Francisco, CA, 1/9/1992
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Lectures

• Metabolic Unknowns 
  Nashville, TN, 2007; Albuquerque, 2010 - 1/25/2010
• Some Metabolic Aspects of Autism Spectrum Disorders 
  UAMS, 2009; Albuquerque, 2010 - 1/1/2010
• Metabolic and Genetic aspects of autism 
  Dallas, TX - 1/1/2010
• Newborn Screening 
  Multiple Locations 2004, 2005 - 1/28/2006
• A Biochemical Geneticist Looks at Autism 
  Multiple Locations, 1998, 1999, 2005 - 1/9/2006
• New Developments in Lysosomal Storage Diseases 
  Rijkshospitalet, Oslo - 1/15/2005
• Genes and Development 
  University of Maryland - 1/7/2005
• What’s new in newborn screening? 
  Arnold Palmer Children’s Hospital, Orlando, FL. - 1/2/2005
• What’s new in newborn screening 
  Union Memorial Hospital, Baltimore, MD - 1/19/2004
• A 37-year-old woman with diarrhea and peripheral neuropathy (Fabry disease) 
  Johns Hopkins Hospital - 1/6/2004
• Update on Newborn Screening 
  1/2/2003
• It’s in your genes 
  LaTrobe University, Melbourne, VIC - 1/22/2002
• Biochemical Aspects of Autism 
  Wellington, NZ - 1/6/2000
• Genetics and Aging 
  Sydney - 1/6/1999
• Dysmorphology 
  1/17/1998
• Tandem Mass Spectrometry 
  1/8/1998
• Genetic and Metabolic Cardiomyopathies 
  Perth, Western Australia - 1/2/1998
• Neonatal seizures due to amino acid and organic acid disorders 
  1/12/1996
• Defeat Autism Now! (DAN!) 
  Dallas - 1/20/1995
• Origin and Consequences of Deleterious Human Genes 
  Raleigh, NC - 1/23/1994
• New Myopathy with Cleft Palate and Malignant Hyperthermia 
  University of North Carolina Hospitals - 1/19/1994
• David W. Smith Workshop on Malformations and Morphogenesis 
  Tampa, FL - 1/1/1994
• Marfan Syndrome 
  Duke - 1/1/1994
• Inborn Errors and Malformations 
  University of North Carolina - 1/1/1994
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Other

• Metabolic Disorders Associated with Neonatal Hypoglycemia 
  Kahler SG, NeoReviews
  1/1/2004