2026 Marjo S. van der Knaap: Medicine Researcher – H-Index, Publications & Awards

Discipline name	D-Index	World Ranking	Current World Ranking	National Ranking	Current National Ranking	Publications	Citations
Medicine	106	6587	6192	253	247	592	37663

Marjo S. van der Knaap publication distribution in Medicine in 2026

The chart shows the distribution of publications by all Research.com ranked scientists in the field of Medicine in 2026. The highlighted bar marks where Marjo S. van der Knaap sits on this spectrum.

101 publications 1,796+

This scientist: 592 publications — 71st percentile

71% of scientists in this discipline score the same or lower.

The last bar groups every scientist with 1,796 publications or more.

Marjo S. van der Knaap D-index placement in Medicine in 2026

The chart shows the D-index (discipline H-index) distribution of Medicine scientists ranked by Research.com in 2026. The highlighted bar marks where Marjo S. van der Knaap sits on this spectrum.

70 D-Index 217+

This scientist: 106 D-Index — 69th percentile

69% of scientists in this discipline score the same or lower.

The last bar groups every scientist with 217 D-Index or more.

Research.com Recognitions

2010 - Royal Netherlands Academy of Arts and Sciences
2008 - Spinoza Prize, Dutch Research Council

Overview

Marjo S. van der Knaap is affiliated with Amsterdam UMC in the Netherlands and has a substantial publication record in the fields of biochemistry, genetics, molecular biology, and medicine. Their research focuses heavily on molecular biology, neurology, physiology, immunology, and clinical biochemistry.

The scientist's work extensively covers topics such as RNA regulation and disease, neuroinflammation and neurodegeneration mechanisms, RNA research and splicing, lysosomal storage disorders research, RNA and protein synthesis mechanisms, metabolism and genetic disorders, and RNA modifications and cancer.

Frequent co-authors contributing to their research include Nicole I. Wolf, Marianna Bugiani, Adeline Vanderver, Truus E. M. Abbink, and Marjolein Breur.

The venues where van der Knaap has published most actively include:

Annals of Clinical and Translational Neurology
Brain
Neuropediatrics
Annals of Neurology
Orphanet Journal of Rare Diseases

Some of the recent papers authored or co-authored by van der Knaap are:

"Hypomyelinating leukodystrophies - unravelling myelin biology," 2020, published in Nature Reviews Neurology
"Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study," 2020, published in The Lancet Diabetes & Endocrinology
"Metachromatic leukodystrophy and transplantation: remyelination, no cross-correction," 2020, published in Annals of Clinical and Translational Neurology
"Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus," 2020, published in Med
"Heterogeneity of white matter astrocytes in the human brain," 2021, published in Acta Neuropathologica

Van der Knaap has been recognized with awards including membership in the Royal Netherlands Academy of Arts and Sciences in 2010, and the Spinoza Prize awarded by the Dutch Research Council in 2008.

Best Publications

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.

Gillian I Rice;Jacquelyn Bond;Aruna Asipu;Rebecca L Brunette

818
Citations
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Yanick J. Crow;Diana S. Chase;Johanna Lowenstein Schmidt;Marcin Szynkiewicz

638
Citations
Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.

Douglas B. Gould;F. Campbell Phalan;Guido J. Breedveld;Saskia E. van Mil

614
Citations
Invited Article: An MRI-based approach to the diagnosis of white matter disorders

Raphael Schiffmann;Marjo S. van der Knaap

613
Citations
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

Gert C Scheper;Thom van der Klok;Rob J van Andel;Carola G M van Berkel

545
Citations
Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter.

Peter A.J. Leegwater;Gerre Vermeulen;Andrea A.M. Könst;Sakkubai Naidu

518
Citations
Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

Gillian Rice;Teresa Patrick;Rekha Parmar;Claire F Taylor

499
Citations
A new leukoencephalopathy with vanishing white matter.

M. S. van der Knaap;P. G. Barth;F.J.M. Gabreëls;E. Franzoni

498
Citations
Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter.

Marjo S. van der Knaap;Peter A. J. Leegwater;Andrea A.M. Könst;Allerdien Visser

468
Citations
Alexander disease: Diagnosis with MR imaging

Marjo S. van der Knaap;Sakkubai Naidu;Steven N. Breiter;Susan Blaser

418
Citations
Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children.

M. S. van der Knaap;P. G. Barth;H. Stroink;O. van Nieuwenhuizen

404
Citations
Vanishing white matter disease

Marjo S van der Knaap;Jan C Pronk;Gert C Scheper

386
Citations
Vanishing White Matter Disease

V. Mejaski-Bosnjak;I. Dakovic;G.C. Scheper;M.S. van der Knaap

366
Citations
Translation matters: protein synthesis defects in inherited disease

Gert C. Scheper;Marjo S. van der Knaap;Christopher G. Proud

362
Citations
Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms.

Marjo S. van der Knaap;Marianna Bugiani

359
Citations
Infection-Triggered Familial or Recurrent Cases of Acute Necrotizing Encephalopathy Caused by Mutations in a Component of the Nuclear Pore, RANBP2

Derek E. Neilson;Mark D. Adams;Caitlin M D Orr;Deborah K. Schelling

355
Citations
Age-dependent changes in localized proton and phosphorus MR spectroscopy of the brain

M S van der Knaap;J van der Grond;P C van Rijen;J A Faber

352
Citations
Magnetic Resonance of Myelination and Myelin Disorders

M.S. van der Knaap;J. Valk

349
Citations
Progress in understanding 2-hydroxyglutaric acidurias

Martijn Kranendijk;Eduard A. Struys;Gajja S. Salomons;Marjo S. Van der Knaap

343
Citations
Ubiquitous L1 Mosaicism in Hippocampal Neurons

Kyle R. Upton;Daniel J. Gerhardt;J. Samuel Jesuadian;Sandra R. Richardson

338
Citations

Frequent Co-Authors

Petra J. W. Pouwels Vrije Universiteit Amsterdam

Ryan J. Taft Illumina (United States)

Frederik Barkhof University College London

Quinten Waisfisz Vrije Universiteit Amsterdam

Yanick J. Crow Université Paris Cité

Raphael Schiffmann Baylor University

Enrico Bertini Bambino Gesù Children's Hospital

Christopher G. Proud University of Adelaide

Andrea Rossi University of Verona

Richard J. Rodenburg Radboud University

External Links

Wikipedia of Marjo S. van der Knaap Personal website of Marjo S. van der Knaap

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