Publications by authors named "Jaime Barea"

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A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome.
Susan M White, Elizabeth Bhoj, Christoffer Nellåker, Augusta M A Lachmeijer, Aren E Marshall, Jaime Barea

Am J Hum Genet· April 2021

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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, Peter Verloo, Anibh M Das, Jaime J Barea

JIMD Rep· March 2020

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Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.
Ying-Chen Claire Hou, Hung-Chun Yu, Rick Martin, Elizabeth T Cirulli, Natalie M Schenker-Ahmed, Jaime Barea

Proc Natl Acad Sci U S A· February 2020

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Rapid whole-genome sequencing identifies a novel homozygous 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

Cold Spring Harb Mol Case Stud· September 2017

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Tuberous sclerosis, polycystic kidney disease and mucolipidosis III gamma caused by a microdeletion unmasking a recessive mutation.
Jaime J Barea, Eline van Meel, Stuart Kornfeld, Lynne M Bird

Am J Med Genet A· November 2015

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