2026 Frédéric M. Vaz: Biology and Biochemistry Researcher – H-Index, Publications & Awards

Discipline name	D-Index	World Ranking	Current World Ranking	National Ranking	Current National Ranking	Publications	Citations
Biology and Biochemistry	62	10761	9932	277	254	226	14247

Overview

Frédéric M. Vaz is affiliated with the University of Amsterdam in the Netherlands. Their research spans multiple aspects of biochemistry, genetics, and molecular biology, with a particular focus on metabolism and genetic disorders.

Their main fields of study include Biochemistry, Genetics and Molecular Biology and Medicine. Within these domains, they have contributed substantially to subfields such as Molecular Biology, Physiology, Clinical Biochemistry, Genetics, and Biochemistry.

They have explored various scientific topics through their work, including:

Metabolism and Genetic Disorders
Mitochondrial Function and Pathology
Peroxisome Proliferator-Activated Receptors
Adipose Tissue and Metabolism
Diet and metabolism studies
ATP Synthase and ATPases Research
Metabolomics and Mass Spectrometry Studies

Their research contributions are published across multiple venues, with frequent publications in:

Journal of Inherited Metabolic Disease
bioRxiv (Cold Spring Harbor Laboratory)
Frontiers in Cell and Developmental Biology
Molecular Genetics and Metabolism
Disease Models & Mechanisms

Some of their recent papers include:

International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy, 2022, Neurology
Integrative Analysis of the Inflammatory Bowel Disease Serum Metabolome Improves Our Understanding of Genetic Etiology and Points to Novel Putative Therapeutic Targets, 2021, Gastroenterology
Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency, 2021, Journal of Medical Genetics
Mitochondrial Fatty Acid Oxidation Disorders: Laboratory Diagnosis, Pathogenesis, and the Complicated Route to Treatment, 2020, Journal of Lipid and Atherosclerosis
Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor, 2020, Frontiers in Cell and Developmental Biology

Frédéric M. Vaz frequently collaborates with several researchers, including:

Michel van Weeghel
Riekelt H. Houtkooper
Sacha Ferdinandusse
Marc Engelen
Bauke V. Schomakers

Best Publications

Modeling the mitochondrial cardiomyopathy of Barth syndrome with induced pluripotent stem cell and heart-on-chip technologies

Gang Wang;Megan L. McCain;Luhan Yang;Aibin He

873
Citations
Carnitine biosynthesis in mammals.

Frédéric M. Vaz;Ronald J. A. Wanders

815
Citations
Acylcarnitines: reflecting or inflicting insulin resistance?

Marieke G. Schooneman;Frédéric M. Vaz;Sander M. Houten;Maarten R. Soeters

611
Citations
Cardiolipin, the heart of mitochondrial metabolism.

R. H. Houtkooper;F. M. Vaz

473
Citations
Cardiolipin provides an essential activating platform for caspase-8 on mitochondria.

Francois Gonzalvez;Zachary T. Schug;Riekelt H. Houtkooper;Elaine D. MacKenzie

333
Citations
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update.

Peter G. Barth;Fredoen Valianpour;Valerie M. Bowen;Jan Lam

318
Citations
Cardiac and Skeletal Muscle Defects in a Mouse Model of Human Barth Syndrome

Devrim Acehan;Frederic Vaz;Riekelt H. Houtkooper;Jeanne James

279
Citations
Mutations in LPIN1 Cause Recurrent Acute Myoglobinuria in Childhood

Avraham Zeharia;Avraham Zeharia;Avraham Shaag;Riekelt H. Houtkooper;Tareq Hindi

247
Citations
Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness

Saskia B Wortmann;Frédéric M Vaz;Thatjana Gardeitchik;Lisenka E L M Vissers

244
Citations
Aberrant cardiolipin metabolism in the yeast taz1 mutant: a model for Barth syndrome.

Zhiming Gu;Fredoen Valianpour;Shuliang Chen;Frederic M. Vaz

244
Citations
Sodium taurocholate cotransporting polypeptide (SLC10A1) deficiency: Conjugated hypercholanemia without a clear clinical phenotype

Frédéric M. Vaz;Coen C. Paulusma;Hidde Huidekoper;Minke de Ru

203
Citations
BID is cleaved by caspase-8 within a native complex on the mitochondrial membrane

Zachary T Schug;F Gonzalvez;Riekelt H Houtkooper;Riekelt H Houtkooper;Frédéric M Vaz

200
Citations
MTCH2/MIMP is a major facilitator of tBID recruitment to mitochondria

Yehudit Zaltsman;Liat Shachnai;Natalie Yivgi-Ohana;Michal Schwarz

195
Citations
Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes, and tissues using high-performance liquid chromatography-mass spectrometry as a diagnostic test for Barth syndrome.

Riekelt H. Houtkooper;Richard J. Rodenburg;Charlotte Thiels;Henk van Lenthe

188
Citations
Barth syndrome: cellular compensation of mitochondrial dysfunction and apoptosis inhibition due to changes in cardiolipin remodeling linked to tafazzin (TAZ) gene mutation.

François Gonzalvez;Marilena D'Aurelio;Marie Boutant;Aoula Moustapha

186
Citations
Enzymology of the carnitine biosynthesis pathway.

Karin Strijbis;Frédéric M. Vaz;Ben Distel

177
Citations
The enigmatic role of tafazzin in cardiolipin metabolism.

Riekelt H. Houtkooper;Marjolein Turkenburg;Bwee Tien Poll-The;Daniela Karall

175
Citations
Cardiolipin deficiency affects respiratory chain function and organization in an induced pluripotent stem cell model of Barth syndrome

Jan Dudek;I-Fen Cheng;Martina Balleininger;Frédéric M. Vaz

173
Citations
Only One Splice Variant of the Human TAZ Gene Encodes a Functional Protein with a Role in Cardiolipin Metabolism

Frédéric M. Vaz;Riekelt H. Houtkooper;Fredoen Valianpour;Peter G. Barth

167
Citations
Bloodspot Assay Using HPLC–Tandem Mass Spectrometry for Detection of Barth Syndrome

Willem Kulik;Henk van Lenthe;Femke S. Stet;Riekelt H. Houtkooper

162
Citations