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M. Jakobs · SciRah

Researcher profile · Semantic Scholar

M. Jakobs

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M. Jakobs — researcher profile on SciRah

h-index: 17
Works: 42
Citations: 1,251

Most-cited papers

LAD-1/variant syndrome is caused by mutations in FERMT3.
T. Kuijpers, E. van de Vijver, M. A. Weterman, M. de Boer +11 more
2009Blood229 citations Open access
Semantic Scholar
Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene.
L. Ijlst, J. P. N. Ruiter, J. Hoovers, M. Jakobs +1 more
1996Journal of Clinical Investigation161 citations Open access
Semantic Scholar
Human T-cell memory consists mainly of unexpanded clones.
P. Klarenbeek, P. Tak, B. V. van Schaik, A. Zwinderman +6 more
2010Immunology Letters103 citations
Semantic Scholar
SGCE isoform characterization and expression in human brain: implications for myoclonus–dystonia pathogenesis?
K. Ritz, B. V. van Schaik, M. Jakobs, A. V. van Kampen +3 more
2011European Journal of Human Genetics98 citations Open access
Semantic Scholar
UvA-DARE ( Digital Academic Repository ) A Sensitive Assay for Virus Discovery in Respiratory Clinical Samples
M. de Vries, M. Deijs, M. Canuti, B. V. van Schaik +17 more
201187 citations
Semantic Scholar
UvA-DARE ( Digital Academic Repository ) In vivo tumor growth inhibition and biodistribution studies of locked nucleic acid ( LNA ) antisense oligonucleotides
A. T. ten Asbroek, M. D. de Wissel, M. Jakobs, M. Wissenbach +4 more
201781 citations
Semantic Scholar
A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy.
M. A. Weterman, V. Sorrentino, Paul R. Kasher, M. Jakobs +9 more
2012Human Molecular Genetics68 citations Open access
Semantic Scholar
Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics
O. Mook, Martin A. Haagmans, J. Soucy, J. V. D. van de Meerakker +6 more
2013Journal of Medical Genetics59 citations Open access
Semantic Scholar
In vivo tumor growth inhibition and biodistribution studies of locked nucleic acid (LNA) antisense oligonucleotides.
K. Fluiter, A. T. ten Asbroek, M. D. de Wissel, M. Jakobs +5 more
2003Nucleic Acids Research51 citations Open access
Semantic Scholar
Enrichment, identification and analysis of fetal cells from maternal blood: evaluation of a prenatal diagnosis system
I. D. de Graaf, M. Jakobs, N. Leschot, I. Ravkin +2 more
1999Prenatal Diagnosis37 citations Open access
Semantic Scholar
SMARCB1/INI1 maternal germ line mosaicism in schwannomatosis
T. Hulsebos, S. Kenter, M. Jakobs, F. Baas +2 more
2010Clinical Genetics35 citations
Semantic Scholar
Molecular cytogenetic analysis of term placentae suspected of mosaicism using fluorescence in situ hybridization
G. Schuring-Blom, M. Keuzer, M. Jakobs, D. M. van den Brande +4 more
1993Prenatal Diagnosis31 citations
Semantic Scholar
Streptococcus pneumoniae arginine synthesis genes promote growth and virulence in pneumococcal meningitis.
J. Piet, M. Geldhoff, B. V. van Schaik, M. Brouwer +10 more
2014Journal of Infectious Diseases29 citations
Semantic Scholar
The application of microwave denaturation in comparative genomic hybridization.
M. de Meulemeester, Agnes Vinka, M. Jakobs, Mario Hermsen +4 more
1996Genetic analysis : biomolecular engineering27 citations
Semantic Scholar
An epigenetic and transcriptomic signature of immune tolerance in human monocytes through multi-omics integration
X. Brands, B. Haak, Augustijn M. Klarenbeek, J. Butler +9 more
2021Genome Medicine24 citations Open access
Semantic Scholar
Metagenomic DNA sequencing for semi-quantitative pathogen detection from urine: a prospective, laboratory-based, proof-of-concept study.
V. A. Janes, S. Matamoros, P. Munk, P. L. C. Clausen +11 more
2022The Lancet Microbe22 citations Open access
Semantic Scholar
Dynamic clonal hematopoiesis and functional T-cell immunity in a supercentenarian
E. B. van den Akker, Stavros Makrodimitris, M. Hulsman, M. Brugman +10 more
2019Leukemia17 citations Open access
Semantic Scholar
First‐trimester non‐invasive prenatal diagnosis of triploidy
I. D. de Graaf, Saskia M. C. A. van Bezouw, M. Jakobs, N. Leschot +3 more
1999Prenatal Diagnosis15 citations Open access
Semantic Scholar
Looking ultra deep: short identical sequences and transcriptional slippage.
K. Ritz, B. V. van Schaik, M. Jakobs, E. Aronica +3 more
2011Genomics10 citations Open access
Semantic Scholar
Slit-scanning technique using standard cell sorter instruments for analyzing and sorting nonacrocentric human chromosomes, including small ones.
W. Rens, C. V. van Oven, Jan Stap, M. Jakobs +1 more
1994Cytometry10 citations Open access
Semantic Scholar
Amplified fragment length polymorphism and whole genome sequencing: a comparison of methods in the investigation of a nosocomial outbreak with vancomycin resistant enterococci
V. A. Janes, D. Notermans, I. Spijkerman, C. Visser +6 more
2019Antimicrobial Resistance and Infection Control8 citations Open access
Semantic Scholar
Metagenomic sequencing to replace semi-quantitative urine culture for detection of urinary 1 tract infections : a proof of concept . 2 3
V. A. Janes, S. Matamoros, N. Willemse, C. Visser +9 more
20178 citations
Semantic Scholar
Intracellular pyruvate levels positively correlate with cytokine production capacity in tolerant monocytes from patients with pneumonia.
N. A. Otto, J. Butler, A. Schuurman, X. Brands +10 more
2022Biochimica et Biophysica Acta - Molecular Basis of Disease7 citations Open access
Semantic Scholar
Ciliary neurotrophic factor null alleles are not a risk factor for Charcot-Marie-Tooth disease, hereditary neuropathy with pressure palsies and amyotrophic lateral sclerosis.
P. W. V. van Vught, J. Van Wijk, T. Bradley, Dagmar Plasmans +5 more
2007Neuromuscular Disorders6 citations
Semantic Scholar
Ribonuclease H1 maps to chromosome 2 and has at least three pseudogene loci in the human genome.
A. T. ten Asbroek, M. van Groenigen, M. Jakobs, C. Koevoets +2 more
2002Genomics6 citations
Semantic Scholar
Genetic analysis of fetal nucleated red blood cells from CVS washings
M. Jakobs, J. V. van Lith, I. D. de Graaf, A. C. Knegt +1 more
2000Prenatal Diagnosis6 citations
Semantic Scholar
Complete T and B cell receptor repertoire analysis in rheumatoid arthritis using high throughput sequencing
P. Klarenbeek, M. Doorenspleet, B. V. van Schaik, M. Herenius +7 more
20104 citations Open access
Semantic Scholar
An exploratory single-cell analysis of peripheral blood mononuclear cells from vedolizumab-treated Crohn’s disease patients identifies response-associated differences among the plasmacytoid dendritic cells and classical monocytes
A. Y. L. Li Yim, I. Hageman, V. Joustra, A. Elfiky +15 more
2025Frontiers in Immunology3 citations Open access
Semantic Scholar
Metagenomic sequencing to replace semi-quantitative urine culture for detection of urinary tract infections: a proof of concept
V. A. Janes, S. Matamoros, N. Willemse, Caroline E. Visser +7 more
2017bioRxiv3 citations Open access
Semantic Scholar
An epigenetic and transcriptomic signature of immune tolerance in human monocytes through multi-omics integration
X. Brands, B. Haak, Augustijn M. Klarenbeek, J. Butler +9 more
2021Genome Medicine2 citations Open access
Semantic Scholar
Metagenomic sequencing as a diagnostic tool for urine culture negative febrile urinary tract infection.
V. A. Janes, J. Stalenhoef, B. van der Putten, Lam Koster +5 more
2026Journal of Infection1 citations Open access
Semantic Scholar
DYNAMICS OF CLONAL HEMATOPOIESIS IN A SUPER-CENTENARIAN
E. B. van den Akker, Stavros Makrodimitris, M. Hulsman, M. Brugman +10 more
20201 citations Open access
Semantic Scholar
A nine-year longitudinal study in the blood of a supercentenarian reveals an extensive subclonal architecture and ongoing clonal dynamics
E. B. van den Akker, Stavros Makrodimitris, M. Hulsman, M. Brugman +10 more
2019bioRxiv1 citations Open access
Semantic Scholar
A Sensitive Assay for Virus Discovery in Respiratory Clinical Samples
M. de Vries, M. Deijs, M. Canuti, B. V. van Schaik +16 more
2011PLoS ONE1 citations Open access
Semantic Scholar
High throughput sequencing (HTS) provides full repertoire analysis of the B and T cell receptors in humans and mice, both in blood and synovial tissue
P. Klarenbeek, P. Tak, M. Doorenspleet, B. V. van Schaik +8 more
20101 citations Open access
Semantic Scholar
for Myoclonus-Dystonia pathogenesis?
K. Ritz, B. V. van Schaik, M. Jakobs, A. V. van Kampen
20101 citations
Semantic Scholar
Title: Single-cell characterization of peripheral blood mononuclear cells from Crohn’s disease patients on vedolizumab Short title: PBMC characterization of CD patients on VDZ
A. Elfiky, M. Ghiboub, E. Levin, J. Verhoeff +12 more
20230 citations
Semantic Scholar
FERMT3 LAD-1/variant syndrome is caused by mutations in
D. Roos, A. Verhoeven, F. Baas, K. van den Berg +8 more
20130 citations
Semantic Scholar
myelogenous leukemia Acquired FANCA dysfunction and cytogenetic instability in adult acute
C. Mathew, R. Larson, G. Bagby, M. Jakobs +8 more
20130 citations
Semantic Scholar
Theoretical VIDISCA amplifiable fragments in human rRNA, and number of restriction sites.
M. de Vries, M. Deijs, M. Canuti, B. V. van Schaik +16 more
20130 citations Open access
Semantic Scholar
OP4-8 Virus discovery 454 sequencing
M. de Vries, M. Deijs, M. Canuti, M. Jakobs +5 more
20090 citations
Semantic Scholar
Title: Metagenomic sequencing to replace semi-quantitative urine culture for detection of urinary
V. A. Janes, S. Matamoros, N. Willemse, Caroline E. Visser +7 more
0 citations
Semantic Scholar

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