Frédéric M. Vaz

MedicineNeuroscience

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 15 papers. Top paper: “ECHS1 disease in two unrelated families of Samoan descent: Common variant ‐ rare disorder”.

ECHS1 disease in two unrelated families of Samoan descent: Common variant ‐ rare disorder

American Journal of Medical Genetics Part A(2020)10.1002/ajmg.a.61936

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0DataRank · unranked

27 citations

Shaya S. Eftekharian, Sacha Ferdinandusse, Sha Tang, Take Naseri, Muagututi‘a Sefuiva Reupena +12 more

Integrative Analysis of the Inflammatory Bowel Disease Serum Metabolome Improves Our Understanding of Genetic Etiology and Points to Novel Putative Therapeutic Targets

Gastroenterology(2021)10.1053/j.gastro.2021.11.015

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89 citations

Sander M. Houten, Roman Kosoy, Ruiqi Huang, Frédéric M. Vaz, Ruixue Hou +24 more

Diverse mitochondrial abnormalities in a new cellular model of TAFFAZZIN deficiency are remediated by cardiolipin-interacting small molecules

Journal of Biological Chemistry(2021)10.1016/j.jbc.2021.101005

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21 citations

Olivia Sniezek Carney, Alexandra Pado, Veronica F. Busa, Frédéric M. Vaz, Simion Kreimer +7 more

Barth syndrome cellular models have dysregulated respiratory chain complex I and mitochondrial quality control due to abnormal cardiolipin

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.01.06.425502

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2 citations

Olivia Sniezek Carney, Alexandra Pado, Veronica F. Busa, Frédéric M. Vaz, Simion Kreimer +6 more

International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy

Neurology(2022)10.1212/wnl.0000000000201374

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142 citations

Wouter J. C. van Ballegoij, Eric J. Mallack, Keith Van Haren, Wolfgang Köhler, Ettore Salsano +23 more

Liquid Chromatography–Tandem Mass Spectrometry in Newborn Screening Laboratories

International Journal of Neonatal Screening(2022)10.3390/ijns8040062

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46 citations

Khaja Basheeruddin, Alberto B. Burlina, Hsiao-Jan Chen, Yin‐Hsiu Chien, George J. Dizikes +21 more

Biallelic variants in TAMM41 are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease

Human Genetics and Genomics Advances(2022)10.1016/j.xhgg.2022.100097

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15 citations

L Bianchi, Francesca Rastelli, Florence Piron‐Prunier, Sophie Ayciriex, Claude Besmond +21 more

Stimulating the sir2–spargel axis rescues exercise capacity and mitochondrial respiration in a Drosophila model of Barth syndrome

Disease Models & Mechanisms(2022)10.1242/dmm.049279

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11 citations

Rubén Zapata‐Pérez, Kristin Richardson, Frédéric M. Vaz, Riekelt H. Houtkooper, Robert Wessells +1 more

Acyl-CoA dehydrogenase substrate promiscuity limits the potential for development of substrate reduction therapy in disorders of valine and isoleucine metabolism

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.11.22.517273

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0 citations

Tetyana Dodatko, William Dwyer, Hongjie Chen, Brandon Stauffer, Robert J. DeVita +4 more

Acyl‐CoA dehydrogenase substrate promiscuity: Challenges and opportunities for development of substrate reduction therapy in disorders of valine and isoleucine metabolism

Journal of Inherited Metabolic Disease(2023)10.1002/jimd.12642

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8 citations

Tetyana Dodatko, William Dwyer, Sara Violante, Hongjie Chen, Brandon Stauffer +6 more

Diacylglycerols and Lysophosphatidic Acid, Enriched on Lipoprotein(a), Contribute to Monocyte Inflammation

Arteriosclerosis Thrombosis and Vascular Biology(2024)10.1161/atvbaha.123.319937

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56 citations

Arjen J. Cupido, Barend M. Mol, Lotte C.A. Stiekema, Miranda Versloot, Maaike Winkelmeijer +14 more

CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders

Genetics in Medicine(2024)10.1016/j.gim.2024.101104

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13 citations

Maja Tarailo‐Graovac, René Leen, Rutger Meinsma, Solenne Correard, Judith Jansen-Meijer +38 more

Temporal Effects of Safflower Oil Diet-Based Linoleic Acid Supplementation on Barth Syndrome Cardiomyopathy

Circulation(2024)10.1161/circulationaha.123.065414

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4 citations

Jing Pang, Anh Nguyen, Changming Tan, Alexandria Tso, T. N. Huynh +6 more

Dietary linoleic acid supplementation fails to rescue established cardiomyopathy in Barth syndrome

Journal of Molecular and Cellular Cardiology Plus(2024)10.1016/j.jmccpl.2024.100076

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3 citations

Jing Pang, Anh Nguyen, Helen Huynh, Sharon Lee, Yusu Gu +3 more

Targeting phospholipase PLAG-15 promotes healthy aging in C. elegans via lysosomal-related genes

iScience(2025)10.1016/j.isci.2025.112880

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0DataRank · unranked

2 citations

Marte Molenaars, Rashmi Kamble, Weisha Li, Bauke V. Schomakers, Adrie Dane +8 more