KevinE.GlintonMD

PubMed

• 9 citations
  KCNA1 gain-of-function epileptic encephalopathy treated with 4-aminopyridine.
  Peter Müller, Danielle S Takacs, Ulrike B S Hedrich, Rohini Coorg, Laura Masters, Kevin E Glinton, Hongzheng Dai, Jon A Cokley, James J Riviello, Holger Lerche, Edward...> ;Annals of Clinical and Translational Neurology. 2023 Apr 1
• 10 citations
  Cardiac crises: Cardiac arrhythmias and cardiomyopathy during TANGO2 deficiency related metabolic crises.
  Christina Y Miyake, Erica J Lay, Cheyenne M Beach, Scott R Ceresnak, Caridad M Delauz, Taylor S Howard, Christopher M Janson, Kate Jardine, Prince J Kannankeril, Maina...> ;Heart Rhythm. 2022 Oct 1
• 5 citations
  Untargeted Metabolomics of Slc13a5 Deficiency Reveal Critical Liver-Brain Axis for Lipid Homeostasis.
  Sofia Milosavljevic, Kevin E Glinton, Xiqi Li, Cláudia Medeiros, Patrick Gillespie, John R Seavitt, Brett H Graham, Sarah H Elsea> ;Metabolites. 2022 Apr 14
• 1 citations
  An innovative medical school curriculum to enhance exposure to genetics and genomics: Updates and outcomes
  Kevin E. Glinton, Lorraine Potocki, Shweta U. Dhar> ;Genetics in Medicine. 2021 Nov 30
• 28 citations
  Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of Metabolism.
  Ning Liu, Jing Xiao, Charul Gijavanekar, Kirk L. Pappan, Kevin E. Glinton, Brian J. Shayota, Adam D. Kennedy, V. Reid Sutton, Sarah H. Elsea, Qin Sun> ;JAMA Network Open. 2021 Jul 1
• 7 citations
  Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.
  Kevin E. Glinton, Anna C.E. Hurst, Kevin M. Bowling, Ingrid Cristian, Devon Haynes, Dusit Adstamongkonkul, Oskar Schnappauf, David B. Beck, Carole Brewer, Aditi Shah P...> ;American Journal of Medical Genetics. Part A. 2021 Jan 31
• 4 citations
  Clinical Utility of Genetic Testing in the Precision Diagnosis and Management of Pediatric Patients with Kidney and Urinary Tract Diseases.
  Nasim Bekheirnia, Kevin E Glinton, Linda Rossetti, Joshua Manor, Wuyan Chen, Dolores J Lamb, Michael C Braun, Mir Reza Bekheirnia> ;Kidney360. 2021 Jan 28
• 5 citations
  Sudden infant death with dysgenesis of the testes syndrome in a non-Amish infant: A case report.
  Brady Slater, Kevin E. Glinton, Hongzheng Dai, Erica Lay, Lefkothea P. Karaviti, Elizabeth Mizerik, Chaya N. Murali, Seema R. Lalani, Carlos A. Bacino, Linda Z. Rossetti> ;American Journal of Medical Genetics. Part A. 2020 Sep 4
• 28 citations
  Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis.
  Joseph T. Alaimo, Kevin E. Glinton, Ning Liu, Jing Xiao, Yaping Yang, V. Reid Sutton, Sarah H. Elsea> ;Genetics in Medicine. 2020 May 22
• A Somnolent Neonate With Hypothermia and Posturing
  Jessica M. Nguyen, Sonia Kaushal, Kevin E. Glinton, Ronit Marom> ;Clinical Pediatrics. 2020 May 13
• 7 citations
  Multiple mitochondrial dysfunctions syndrome 1: An unusual cause of developmental pulmonary hypertension.
  Alona Birjiniuk, Kevin E. Glinton, Natalie Villafranco, Suzanne Boyer, Jason Laufman, Elizabeth Mizerik, Daryl A. Scott, Sarah H. Elsea, Csaba Galambos, Nidhy Varghese...> ;American Journal of Medical Genetics. Part A. 2020 Apr 1
• 39 citations
  Untargeted Metabolomics for Autism Spectrum Disorders: Current Status and Future Directions.
  Kevin E. Glinton, Sarah H. Elsea> ;Frontiers in Psychiatry. 2019 Sep 10
• 41 citations
  Review of the phenotypic spectrum associated with haploinsufficiency of MYRF.
  Linda Z. Rossetti, Kevin E. Glinton, Bo Yuan, Pengfei Liu, Nishitha R. Pillai, Elizabeth Mizerik, Pilar L. Magoulas, Jill A. Rosenfeld, Lefkothea P. Karaviti, Vernon R...> ;American Journal of Medical Genetics. Part A. 2019 May 8
• 13 citations
  Untargeted metabolomics identifies unique though benign biochemical changes in patients with pathogenic variants in UROC1.
  Kevin E. Glinton, Harvey L. Levy, Adam D. Kennedy, Kirk L. Pappan, Sarah H. Elsea> ;Molecular Genetics and Metabolism Reports. 2019 Mar 1
• An 8-Year-Old Male With Fever of Unknown Origin:
  Kevin E. Glinton, Eleanor A. Sharp, Mark J Mendelsohn> ;Clinical Pediatrics. 2018 Mar 20
• 30 citations
  Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling
  Kevin E. Glinton, Paul J. Benke, Matthew A. Lines, Michael T. Geraghty, Pranesh Chakraborty, Osama Y. Al-Dirbashi, Yi Jiang, Adam D. Kennedy, Mike Grotewiel, V. Reid S...> ;Molecular Genetics and Metabolism. 2017 Dec 1
• 11 citations
  Solvent effects on the aggregation state of lithium dialkylaminoborohydrides.
  Lawrence M. Pratt, Sudha Mogali, Kevin E. Glinton> ;The Journal of Organic Chemistry. 2003 Jul 26
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