JamesMMcGrathMD

PubMed

• A retrospective cohort analysis of the Yale pediatric genomics discovery program.
  Deniz, E., Samir Al-Ali, Lauren Jeffries, E Vincent S Faustino, Weizhen Ji, Emily Mis, Monica Konstantino, Cynthia Zerillo, Yong-Hui Jiang, Michele Spencer-Manzon, All...> ;American Journal of Medical Genetics. Part A. 2022 Oct 1
• 1 citations
  Detecting regions of homozygosity improves the diagnosis of pathogenic variants and uniparental disomy in pediatric patients.
  Jiadi Wen, Hongyan Chai, Brittany Grommisch, Autumn DiAdamo, Daniel Dykas, Deqiong Ma, Andreea Popa, Chen Zhao, Michele Spencer-Manzon, Yong-Hui Jiang, James McGrath, ...> ;American Journal of Medical Genetics. Part A. 2022 Jun 1
• 2 citations
  Refractory Infantile Chronic Diarrhea and Failure to Thrive in a 6-Month-Old Boy With a Complex Past Medical History:
  Debra Okafor, Leina Alrabadi, Arik Alper, Lauren Jeffries, James L. McGrath, Anthony F. Porto> ;Clinical Pediatrics. 2019 Feb 21
• 24 citations
  A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history.
  Lauren Jeffries, Hirohito Shima, Weizhen Ji, David Panisello-Manterola, James L. McGrath, Lynne M. Bird, Monica Konstantino, Satoshi Narumi, Saquib A. Lakhani> ;American Journal of Medical Genetics. Part A. 2018 Feb 1
• 14 citations
  Transfer of pathogenic and nonpathogenic cytosolic proteins between spinal cord motor neurons in vivo in chimeric mice
  Eleanor V. Thomas, Wayne A. Fenton, James L. McGrath, Arthur L. Horwich> ;Proceedings of the National Academy of Sciences of the United States of America. 2017 Apr 11
• Spermatozoa as a transport system of large unilamellar lipid vesicles into the oocyte.
  Geerts, N.,McGrath, J.,Stronk, J. N.,Vanderlick, T. K.,Huszar, G.> ;Reprod. Biomed. Online. 2014 Mar 04
• 5 citations
  A Multiplex Assay for the Detection and Mapping of Complex Glycerol Kinase Deficiency
  Roger D. Klein, Erik C. Thorland, Patrick R. Gonzales, Patricia A. Beck, Daniel J. Dykas, James L. McGrath, Allen E. Bale> ;Clinical Chemistry. 2006 Oct 1
• 151 citations
  Cardiac and CNS defects in a mouse with targeted disruption of suppressor of fused.
  Ayanna F. Cooper, Kuan Ping Yu, Martina Brueckner, Lisa L. Brailey, Linda K Johnson, James L. McGrath, Allen E. Bale> ;Development. 2005 Oct 1
• Join now to see all