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F. Duijkers · SciRah

Researcher profile · Semantic Scholar

F. Duijkers

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F. Duijkers — researcher profile on SciRah

h-index: 16
Works: 44
Citations: 879

Most-cited papers

Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3.
Florian Villegas, D. Lehalle, Daniela Mayer, Melanie Rittirsch +25 more
2019Cell Stem Cell111 citations Open access
Semantic Scholar
KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia
M. Pennings, M. Schouten, J. van Gaalen, R. Meijer +20 more
2019European Journal of Human Genetics74 citations Open access
Semantic Scholar
De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females
E. Palmer, T. Stuhlmann, S. Weinert, E. Haan +45 more
2016Molecular Psychiatry67 citations Open access
Semantic Scholar
Variation in the Risk of Colorectal Cancer for Lynch Syndrome: A retrospective family cohort study
Aung Ko Win, J. Dowty, J. Reece, Grant Lee +208 more
2021The Lancet Oncology64 citations Open access
Semantic Scholar
High anaplastic lymphoma kinase immunohistochemical staining in neuroblastoma and ganglioneuroblastoma is an independent predictor of poor outcome.
F. Duijkers, J. Gaal, J. Meijerink, Pieter C. Admiraal +3 more
2012American Journal of Pathology60 citations
Semantic Scholar
Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium
P. Møller, T. Seppälä, J. Dowty, Saskia Haupt +153 more
2022Hereditary Cancer in Clinical Practice53 citations Open access
Semantic Scholar
Clues for Polygenic Inheritance of Pituitary Stalk Interruption Syndrome From Exome Sequencing in 20 Patients
N. Zwaveling-Soonawala, M. Alders, A. Jongejan, Lidija Kovačič +5 more
2018Journal of Clinical Endocrinology and Metabolism53 citations Open access
Semantic Scholar
Telomerase reverse transcriptase promoter mutations in tumors originating from the adrenal gland and extra-adrenal paraganglia.
T. Papathomas, Lindsey Oudijk, E. Zwarthoff, Edward Post +14 more
2014Endocrine-Related Cancer45 citations Open access
Semantic Scholar
HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans.
F. Duijkers, A. McDonald, G. Janssens, M. Lezzerini +16 more
2019American Journal of Human Genetics43 citations Open access
Semantic Scholar
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement
Didier Lacombe, A. Bloch-Zupan, C. Bredrup, Edward Cooper +48 more
2024Journal of Medical Genetics40 citations Open access
Semantic Scholar
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.
E. Bonora, Sanjiban Chakrabarty, Georgios Kellaris, M. Tsutsumi +63 more
2021Brain : a journal of neurology40 citations Open access
Semantic Scholar
Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.
D. Connaughton, R. Dai, D. Owen, Jonathan Marquez +95 more
2020American Journal of Human Genetics39 citations Open access
Semantic Scholar
Dilation of the Aorta Ascendens Forms Part of the Clinical Spectrum of HCN4 Mutations.
A. Vermeer, E. Lodder, D. Thomas, F. Duijkers +11 more
2016Journal of the American College of Cardiology30 citations Open access
Semantic Scholar
Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq
R. Koster, R. Brandão, D. Tserpelis, C. V. van Roozendaal +21 more
2021npj Genomic Medicine23 citations Open access
Semantic Scholar
Discordant Staining Patterns and Microsatellite Results in Tumors of MSH6 Pathogenic Variant Carriers.
A. van der Werf-'t Lam, D. Terlouw, C. Tops, Merel S. van Kan +15 more
2023Modern Pathology20 citations Open access
Semantic Scholar
A large family with MSH3-related polyposis
A. Aelvoet, D. Hoekman, B. Redeker, J. Weegenaar +3 more
2022Familial Cancer17 citations Open access
Semantic Scholar
De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features
D. Lehalle, Pierre Vabres, A. Sorlin, T. Bierhals +47 more
2020Journal of Medical Genetics16 citations Open access
Semantic Scholar
Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands
S. Reumers, C. Erasmus, K. Bouman, M. Pennings +11 more
2021Clinical Genetics14 citations Open access
Semantic Scholar
A randomized experimental study to test the effects of discussing uncertainty during cancer genetic counseling: different strategies, different outcomes?
Niki M. Medendorp, M. Hillen, L. Visser, C. Aalfs +6 more
2021European Journal of Human Genetics13 citations Open access
Semantic Scholar
Epigenetic drug combination induces genome-wide demethylation and altered gene expression in neuro-ectodermal tumor-derived cell lines
F. Duijkers, R. D. de Menezes, I. Goossens-Beumer, Dominique J. P. M. Stumpel +4 more
2013Cellular Oncology12 citations Open access
Semantic Scholar
Downregulation of Axl in non-MYCN amplified neuroblastoma cell lines reduces migration.
F. Duijkers, J. Meijerink, R. Pieters, M. V. van Noesel
2013Gene10 citations
Semantic Scholar
The detection of a strong episignature for Chung–Jansen syndrome, partially overlapping with Börjeson–Forssman–Lehmann and White–Kernohan syndromes
N. Vos, S. Haghshenas, Liselot van der Laan, P. M. Russel +56 more
2024Human Genetics7 citations Open access
Semantic Scholar
Abstract A19: Epigenetic drug combination induces genome-wide demethylation and altered gene expression in neuro-ectodermal tumor-derived cell lines
M. V. van Noesel, F. Duijkers, R. D. de Menezes, Dominique J. P. M. Stumpel +3 more
20146 citations
Semantic Scholar
Diagnostic yield of a risk model versus faecal immunochemical test only: a randomised controlled trial in a colorectal cancer screening programme
Tim L. Kortlever, M. van der Vlugt, F. Duijkers, A. Masclee +5 more
2023British Journal of Cancer4 citations Open access
Semantic Scholar
No Pathogenic DICER1 Gene Variants in a Cohort Study of 28 Children With Congenital Pulmonary Airway Malformation.
J. Bakhuizen, F. A. M. Postema, R. van Rijn, J. van Schuppen +10 more
2023Journal of Pediatric Surgery4 citations Open access
Semantic Scholar
Mental Health in Familial Adenomatous Polyposis: A Systematic Review
M. J. Mol, H. Bouchiba, A. Aelvoet, F. B. Evertsz' +5 more
2025Psycho-Oncology3 citations Open access
Semantic Scholar
Long-term outcome of high-grade serous carcinoma established in risk-reducing salpingo-oophorectomy specimens in asymptomatic BRCA1/2 germline pathogenic variant carriers.
I. Stroot, Joost Bart, Harry Hollema, M. Jalving +23 more
2024Gynecologic Oncology3 citations Open access
Semantic Scholar
Congenital methaemoglobinaemia in a 61-year-old patient with normal haemoglobin levels.
K. D. de Geus, A. Anas, R. Franssen, F. Duijkers +2 more
2018Netherlands Journal of Medicine3 citations
Semantic Scholar
Delineating genotype and parent‐of‐origin effect on the phenotype in MSH6‐associated Lynch syndrome
A. van der Werf-'t Lam, M. Rodríguez-Girondo, Mandy Villasmil, C. Tops +14 more
2024Genes, Chromosomes and Cancer2 citations Open access
Semantic Scholar
A pediatric and young adult case of unclassified renal cell carcinoma with medullary phenotype (RCCU-MP): Clinical course and treatment
J. N. van der Beek, Aniek Uittenboogaard, R. D. de Krijger, F. Duijkers +9 more
2024Journal of Onco-Nephrology2 citations Open access
Semantic Scholar
Large‐ and medium‐sized arterial aneurysms in two patients with SMAD4‐related juvenile polyposis syndrome
W. van Weelden, F. Bleeker, D. van Stijn, D. Micha +9 more
2024American Journal of Medical Genetics. Part A2 citations Open access
Semantic Scholar
Significance of incidental copy number variants in the Duchenne muscular dystrophy gene.
I. Ginjaar, M. Kriek, M. Hoffer, R. Oegema +10 more
2025Neuromuscular Disorders1 citations Open access
Semantic Scholar
A Likely Pathogenic variant in the KBTBD13 Gene: A Case Series of Three Patients with Nemaline Myopathy Type 6
E. V. van Kleef, K. Bouman, J. Molenaar, J. D. de Winter +11 more
2024Journal of Neuromuscular Diseases0 citations Open access
Semantic Scholar
Tu1107: A LARGE FAMILY WITH MSH3-RELATED POLYPOSIS
A. Aelvoet, D. Hoekman, B. Redeker, E. Dekker +2 more
2022Gastroenterology0 citations
Semantic Scholar
225: DIAGNOSTIC YIELD USING A FIT-BASED RISK MODEL WAS NOT BETTER THAN FIT ONLY: A RANDOMIZED CONTROLLED TRIAL IN THE SECOND ROUND OF THE DUTCH COLORECTAL CANCER SCREENING PROGRAM.
Tim L. Kortlever, M. van der Vlugt, F. Duijkers, A. Masclee +5 more
2022Gastroenterology0 citations
Semantic Scholar
Sa1096: RISK-BASED SCREENING VERSUS FIT FOR DETECTING ADVANCED NEOPLASIA IN A COLORECTAL CANCER SCREENING PROGRAM: A WITHIN-GROUP COMPARISON IN A RANDOMIZED CONTROLLED TRIAL.
Tim L. Kortlever, M. van der Vlugt, F. Duijkers, A. Masclee +5 more
2022Gastroenterology0 citations
Semantic Scholar
Author response for "Clinical, genetic and histological features of Centronuclear Myopathy in the Netherlands"
S. Reumers, C. Erasmus, K. Bouman, M. Pennings +11 more
20210 citations
Semantic Scholar
De novo missense mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features
D. Lehalle, Pierre Vabres, T. Bierhals, M. Cho +30 more
20190 citations
Semantic Scholar
Epigenetic drug combination induces genome-wide demethylation and altered gene expression in neuro-ectodermal tumor-derived cell lines
F. Duijkers, R. D. de Menezes, I. Goossens-Beumer, Dominique J. P. M. Stumpel +4 more
2013Cellular Oncology0 citations Open access
Semantic Scholar
Abstract 2490: High AXL promotes migration in non-MYCN amplified neuroblastoma cell lines
M. V. van Noesel, F. Duijkers, J. Meijerink, R. Pieters
20120 citations
Semantic Scholar
From Epigenetics to Genetics in Neuroblastoma
F. Duijkers
20120 citations
Semantic Scholar
Abstract 4347: Anaplastic lymphoma kinase (ALK) expression is an independent prognostic factor in neuroblastoma patients and correlates well with ALK inhibitor response in vitro:
F. Duijkers, J. Gaal, J. Meijerink, Pieter C. Admiraal +3 more
20110 citations
Semantic Scholar
Abstract 148: Development of a DNA methylation array normalization method for analyzing demethylating treatment effects in paired samples
M. V. van Noesel, F. Duijkers, J. Meijerink, R. Pieters +4 more
20100 citations
Semantic Scholar
Obesity Cardiovascular Disease and the Failure of Public Health Education
A. Vermeer, E. Lodder, D. Thomas, F. Duijkers +11 more
0 citations
Semantic Scholar

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