Jaime Barea

Precision Medicine Advancements Using Whole Genome Sequencing, Noninvasive Whole Body Imaging, and Functional Diagnostics

E. Kirkness, J. Venter, D. Karow, 2018, bioRxiv.

Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging

E. Kirkness, J. Venter, J. Venter, 2020, Proceedings of the National Academy of Sciences.

A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome.

P. Lockhart, C. Nellåker, D. Wieczorek, 2021, American journal of human genetics.

An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm.

Kiely N. James, S. Kingsmore, M. Bainbridge, 2020, American journal of human genetics.

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

S. Kingsmore, Serge Batalov, S. Chowdhury, 2017, Cold Spring Harbor molecular case studies.

Tuberous sclerosis, polycystic kidney disease and mucolipidosis III gamma caused by a microdeletion unmasking a recessive mutation

L. Bird, E. van Meel, S. Kornfeld, 2015, American journal of medical genetics. Part A.

Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence

H. Blom, J. Fletcher, B. Barshop, 2020, JIMD reports.