LisaTennysonEmrickMDMedical Genetics

PubMed

• Recessive loss-of-function variants in DPH1 identified as the molecular cause in a sibling pair previously diagnosed with Fine-Lubinsky syndrome.
  Emily R Waskow, , Lisa T Emrick, Jill A Rosenfeld, Shamika Ketkar
  American Journal of Medical Genetics. Part A. 2025-01-01
• Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder.
  Maria Carla Borroto, Heena Patel, Siddharth Srivastava, Lindsay C Swanson, Boris Keren
  Pediatric Neurology. 2024-11-01
• Systemic complications of Aicardi Goutières syndrome using real-world data.
  Isabella Peixoto de Barcelos, Amanda K Jan, Nicholson Modesti, Sarah Woidill, Francesco Gavazzi
  Molecular Genetics and Metabolism. 2024-09-15

Journal Articles

• Role of citrulline and arginine supplementation in MELAS syndrome  
  El-Hattab AW, Emrick LT, Chanprasert S, Craigen WJ, Scaglia F. Mitochondria, Int J Biochem Cell Biol, 1/1/2014
• Citrulline and arginine utility in treating nitric oxide deficiency in mitochondrial disorders  
  El-Hattab AW, Emrick LT, Craigen WJ, Scaglia F, Mol Genet Metab, 11/1/2012
• Restoration of impaired nitric oxide production in MELAS syndrome with citrulline and arginine supplementation  
  El-Hattab AW, Hsu JW, Emrick LT, Wong LJ, Craigen WJ, Jahoor F, Scaglia F, Mol Genet Metab, 4/1/2012

Books/Book Chapters

• Neurogenetic Syndromes Behavioral Issues and Their Treatment 
  Chapter: New Genetic Techniques: Implications for Neurobehavioral Syndromes 
  Emrick, LT; Paul H. BrookesEditors: Shapiro et al.Baltimore2010
• The Harriet Lane Handbook 
  Chapter: Neurology 
  Emrick, LTEditors: Custer et al.Elsevier/Mosby, Philadelphia2009

Abstracts/Posters

• Glucose kinetics in subjects with MELAS syndrome: interim results.
  Lisa Emrick, Ayman El-Hattab A, Jean Hsu, Lee-Jun Wong, William Craigen, Farook Jahoor, Fernando Scaglia, United Mitochondrial Disease Foundation Meeting, Bethesda, MD, 6/1/2012
• PDHA1 Mutation Update: Differences in the Genotypes and Phenotypes Between Males and Females in Comparison to Other X-linked Disorders.
  Lisa Emrick, Sha Tang, Inn-Chi Lee, Fangyuan Li, Shao-Wen Weng, Victor Zhang, William J. Craigen, Lee-Jun Wong, Society of Inherited Metabolic Disorders, Charlotte, NC, 3/1/2012

Lectures

• Pediatric Neurology Grand Rounds: "Mitochondrial disorders in the nervous system" 
  Baylor College of Medicine, Houston, TX - 9/1/2013
• "Estimating developmental phenotypes in a general genetics clinic" 
  9/1/2013
• "Evaluating for movement disorders: getting the most from the physical exam" 
  4/1/2013
• "Children with Chromosomal Disorders: Medical Issues and Therapeutic Interventions." 
  Laredo, TX - 1/1/2013
• "3 week old female with neonatal seizures, a patient with Incontinentia Pigmenti" 
  4/1/2012
• "1 day old male with craniosynostosis and syndactyly, a patient with Alperts syndrome" 
  1/1/2012
• Pediatric Residency Neurodevelopmental Series: "Introduction to Developmental Disabilities, Capute CAT/CLAMS evaluation, Cerebral Palsy, ADHD, ASD, Specific Learning D... 
  Johns Hopkins/Kennedy Krieger Institute, 2008, 2009, 2010 - 6/1/2011
• Pediatric Neurology Grand Rounds: "Metabolic mimics of hypoxic ischemic brain injury" 
  Johns Hopkins, Baltimore, MD - 5/1/2011
• Pediatric Grand Rounds: "Assessing pain in children who are non-verbal" 
  Johns Hopkins, Baltimore, MD - 4/1/2007
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