JaimeJBareaMD

PubMed

• 5 citations
  A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome.
  Susan M. White, Elizabeth J. Bhoj, Christoffer Nellåker, Augusta M. A. Lachmeijer, Aren E Marshall, Kym M. Boycott, Dong Li, Wendy E. Smith, Taila Hartley, Arran McBri...> ;American Journal of Human Genetics. 2021 Apr 1
• 9 citations
  Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence.
  Bernd C. Schwahn, Thomas Scheffner, Hedwig Stepman, Patrick Verloo, A.M. Das, Janice M. Fletcher, Henk J. Blom, Jean-François Benoist, Bruce A. Barshop, Jaime Barea, A...> ;JIMD Reports. 2020 Jan 8
• 62 citations
  Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.
  Ying-Chen Claire Hou, Hung-Chun Yu, Richard J. Martin, Elizabeth T. Cirulli, Natalie M. Schenker-Ahmed, Michael Hicks, Isaac V. Cohen, Thomas J. Jönsson, Robyn Heister...> ;Proceedings of the National Academy of Sciences of the United States of America. 2020 Jan 24
• 12 citations
  Rapid whole-genome sequencing identifies a novel homozygous NPC1 variant associated with Niemann-Pick type C1 disease in a 7-week-old male with cholestasis.
  Amber Hildreth, Kristen Wigby, Shimul Chowdhury, Shareef Nahas, Jaime Barea, Paulina Ordonez, Sergey Batalov, David Dimmock, Stephen F. Kingsmore> ;Cold Spring Harbor Molecular Case Studies. 2017 Sep 1
• 4 citations
  Tuberous sclerosis, polycystic kidney disease and mucolipidosis III gamma caused by a microdeletion unmasking a recessive mutation.
  Jaime Barea, Eline van Meel, Stuart Kornfeld, Lynne M. Bird> ;American Journal of Medical Genetics. Part A. 2015 Nov 1
• Join now to see all