David Valle

Government of the United States of America — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

77h-index39.5kcitations321works1.32yr avg
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Research Topics

Metabolism and Genetic Disorders(72), Peroxisome Proliferator-Activated Receptors(49), Genomics and Rare Diseases(33), Amino Acid Enzymes and Metabolism(33), Genomic variations and chromosomal abnormalities(22)

Publications317 total

Impact of Grapefruit Consumption on Plasma Concentrations of Psychiatric Medications through CYP3A4 Inhibition
European Psychiatry·2025Open Access
Multimodality Treatment of Metastatic Hepatocellular Carcinoma (BCLC-C)
HPB·2025
Passive Immunotherapy for Adults Hospitalized with COVID-19: An Individual Participant Data Meta-Analysis of Six Double-Blind, Randomized, Placebo-Controlled Trials
SSRN Electronic Journal·2025Open Access
Hepatic Abscesses due to Septic Pylephlebitis in the Context of Acute Diverticulitis
HPB·2025
Entamoeba Histolytica: An Uncommon Cause of Abdominal Pain
HPB·2025
A mini-review on the international gyrate atrophy symposium 2023: More than meets the eye. Focus on outstanding research questions
Molecular Genetics and Metabolism·2024· 1 citedOpen Access
Rare exonic CELSR3 variants identified in Bladder Exstrophy Epispadias Complex
Frontiers in Genetics·2024· 2 citedOpen Access
The impact of the Turkish population variome on the genomic architecture of rare disease traits
Genetics in Medicine Open·2024· 9 citedOpen Access
De novo variants identified by trio whole exome sequencing of bladder exstrophy epispadias complex
American Journal of Medical Genetics Part A·2023· 2 citedOpen Access
Anxiety and dysautonomia symptoms in patients with a NaV1.7 mutation and the potential benefits of low-dose short-acting guanfacine
Clinical Autonomic Research·2023· 6 citedOpen Access
Systemic artery to pulmonary artery aneurysm malformations associated with variants at <i>MCF2L</i>
American Journal of Medical Genetics Part A·2023Open Access
The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post‐mortem
JIMD Reports·2023· 1 citedOpen Access
A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
Revista Paulista de Pediatria·2023· 2 citedOpen Access
P669: VariantMatcher: A tool to enable connections amongst individuals with interest in a specific variant
Genetics in Medicine Open·2023· 1 citedOpen Access
Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome
PLoS Genetics·2022· 12 citedOpen Access
A possible ocular biomarker for response to hyperornithinemia in gyrate atrophy: the effect of pyridoxine, lysine, and arginine-restricted diet in a patient with advanced disease
Ophthalmic Genetics·2022
A promoter variant in the<i>OTC</i>gene associated with late and variable age of onset hyperammonemia
Journal of Inherited Metabolic Disease·2022· 9 citedOpen Access
A neonate with ornithine aminotransferase deficiency; insights on the hyperammonemia-associated biochemical phenotype of gyrate atrophy
Molecular Genetics and Metabolism Reports·2022· 6 citedOpen Access
Variant‐level matching for diagnosis and discovery: Challenges and opportunities
Human Mutation·2022· 41 citedOpen Access
The impact of GeneMatcher on international data sharing and collaboration
Human Mutation·2022· 27 citedOpen Access
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Frequent Co-authors

Stephen J. Gould(8), Gary Steel(6), Gerardo Jiménez‐Sánchez(6), Ada Hamosh(5), P. Dane Witmer(5), Nancy Braverman(5), Hugo W. Moser(5), Cassandra Obie(5), James C. Morrell(5), James R. Lupski(4), Gabriele Dodt(4), Ann B. Moser(4), Gerald Nestadt(4), Teri A. Manolio(3), Aravinda Chakravarti(3), Jay Shendure(3), Mark Gerstein(3), Corinne D. Boehm(3), Nara Sobreira(3), Murat Günel(3)