Quinten Waisfisz

Radboud University Nijmegen — Netherlands

Biochemistry, Genetics and Molecular Biology · Life Sciences

57h-index17.8kcitations221works1.82yr avg
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Research Topics

DNA Repair Mechanisms(44), BRCA gene mutations in cancer(39), Cancer Immunotherapy and Biomarkers(28), Genomics and Rare Diseases(26), Genomic variations and chromosomal abnormalities(21)

Publications206 total

Characterization of CTNND2-related neurodevelopmental disease, phenotype-genotype spectrum and WNT dynamics in early neurogenesis
2025Open Access
Genetic analysis in fetuses with isolated clubfoot: diagnostic insights and added value
European Journal of Human Genetics·2025Open Access
Hemizygous loss-of-function variants of EIF1AX are associated with a syndromic neurodevelopmental disorder
2025Open Access
Genetic analysis in fetuses with isolated clubfoot: diagnostic insights and added value
2025Open Access
Perinatal genetic diagnostic yield in a population of fetuses with the phenotype arthrogryposis multiplex congenita: a cohort study 2007–2021
European Journal of Human Genetics·2025· 2 citedOpen Access
DDX3X-related neurodevelopmental disorder in males – presenting a new cohort of 19 males and a literature review
European Journal of Human Genetics·2025· 7 citedOpen Access
Author Correction: Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas
Nature Medicine·2025Open Access
Phenotypic spectrum in Weiss-Kruszka syndrome caused by ZNF462 variants: Three new patients and literature review
European Journal of Medical Genetics·2024· 1 citedOpen Access
Dominant <i>CST3</i> variants cause adult onset leukodystrophy without amyloid angiopathy
Brain·2024· 8 citedOpen Access
DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7
Genetics in Medicine·2023· 10 citedOpen Access
Aquaporin-4 and GPRC5B: old and new players in controlling brain oedema
Brain·2023· 24 citedOpen Access
Figure S1 from Clonality, Antigen Recognition, and Suppression of CD8&lt;sup&gt;+&lt;/sup&gt; T Cells Differentially Affect Prognosis of Breast Cancer Subtypes
2023Open Access
TIL signature genes (150-probes and 120-probes) from Clonality, Antigen Recognition, and Suppression of CD8&lt;sup&gt;+&lt;/sup&gt; T Cells Differentially Affect Prognosis of Breast Cancer Subtypes
2023Open Access
Figure S4 from Clonality, Antigen Recognition, and Suppression of CD8&lt;sup&gt;+&lt;/sup&gt; T Cells Differentially Affect Prognosis of Breast Cancer Subtypes
2023Open Access
Supplementary Table 1 from Clonality, Antigen Recognition, and Suppression of CD8&lt;sup&gt;+&lt;/sup&gt; T Cells Differentially Affect Prognosis of Breast Cancer Subtypes
2023Open Access
Genes related to T cell evasion from Clonality, Antigen Recognition, and Suppression of CD8&lt;sup&gt;+&lt;/sup&gt; T Cells Differentially Affect Prognosis of Breast Cancer Subtypes
2023Open Access
TIL signature genes (150-probes and 120-probes) from Clonality, Antigen Recognition, and Suppression of CD8&lt;sup&gt;+&lt;/sup&gt; T Cells Differentially Affect Prognosis of Breast Cancer Subtypes
2023Open Access
Figure S5 from Clonality, Antigen Recognition, and Suppression of CD8&lt;sup&gt;+&lt;/sup&gt; T Cells Differentially Affect Prognosis of Breast Cancer Subtypes
2023Open Access
Figure S6 from Clonality, Antigen Recognition, and Suppression of CD8&lt;sup&gt;+&lt;/sup&gt; T Cells Differentially Affect Prognosis of Breast Cancer Subtypes
2023Open Access
Figure S2 from Clonality, Antigen Recognition, and Suppression of CD8&lt;sup&gt;+&lt;/sup&gt; T Cells Differentially Affect Prognosis of Breast Cancer Subtypes
2023Open Access
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Frequent Co-authors

Hans Joenje(19), Johan P. de Winter(13), Fré Arwert(11), Hanne Meijers‐Heijboer(9), Christopher G. Mathew(9), Maureen E. Hoatlin(8), Marjo S. van der Knaap(8), Heli Nevanlinna(7), Martin A. Rooimans(7), Marjanka K. Schmidt(6), Jenny Chang‐Claude(6), Olivia Fletcher(6), Kamila Czene(6), Frans B.L. Hogervorst(6), Carola G.M. van Berkel(6), Nicole I. Wolf(6), Gerard Pals(5), Kyriaki Michailidou(5), Per Hall(5), Stig E. Bojesen(5)