David Valle


1971 …2019
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Fingerprint Dive into the research topics where David Valle is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

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Gyrate Atrophy Medicine & Life Sciences
Ornithine-Oxo-Acid Transaminase Medicine & Life Sciences
Genes Medicine & Life Sciences
Ornithine Medicine & Life Sciences
Mutation Medicine & Life Sciences
Peroxisomes Medicine & Life Sciences
Proline Medicine & Life Sciences
Phenotype Medicine & Life Sciences

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Research Output 1971 2019

2018 Victor A. McKusick Leadership Award Introduction: James R. Lupski

Valle, D., Mar 7 2019, In : American journal of human genetics. 104, 3, p. 389-390 2 p.

Research output: Contribution to journalComment/debate

Apparent acetaminophen toxicity in a patient with transaldolase deficiency

Lee-Barber, J., English, T. E., Britton, J. F., Sobreira, N., Goldstein, J., Valle, D. & Bjornsson, H. T., Jan 1 2019, JIMD Reports. Springer, p. 9-15 7 p. (JIMD Reports; vol. 44).

Research output: Chapter in Book/Report/Conference proceedingChapter

Liver Failure
Essential Genes
Second Pregnancy Trimester
First Pregnancy Trimester

Insights into genetics, human biology and disease gleaned from family based genomic studies

Centers for Mendelian Genomics, Jan 1 2019, (Accepted/In press) In : Genetics in Medicine.

Research output: Contribution to journalArticle

Medical Genetics
Rare Diseases
Human Genome

ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm

Baylor-Hopkins Center for Mendelian Genomics & MIBAVA Leducq consortium, Jan 1 2019, In : Nature Genetics. 51, 1, p. 42-50 9 p.

Research output: Contribution to journalLetter

Thoracic Aortic Aneurysm
Aortic Aneurysm
Congenital Heart Defects
Endothelial Cells