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Employment (1)

Universitair Medisch Centrum Utrecht: Utrecht, Utrecht, NL

2017-04-01 to present | Clinical Laboratory Geneticist (Department of Genetics)
Employment
Source: Self-asserted source
Maarten Massink

Works (21)

NAA80 bi-allelic missense variants result in high-frequency hearing loss, muscle weakness and developmental delay

Brain communications
2021 | Journal article
Part of ISSN: 2632-1297
Source: Self-asserted source
Maarten Massink

Clonality, Antigen Recognition, and Suppression of CD8+ T Cells Differentially Affect Prognosis of Breast Cancer Subtypes

Clinical cancer research : an official journal of the American Association for Cancer Research
2020 | Journal article
Part of ISSN: 1078-0432
Source: Self-asserted source
Maarten Massink

HNRNPH1-related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome

Clinical genetics
2020 | Journal article
Part of ISSN: 0009-9163
Source: Self-asserted source
Maarten Massink

ABCC9-related Intellectual disability Myopathy Syndrome is a K<sub>ATP</sub> channelopathy with loss-of-function mutations in ABCC9

Nature communications
2019 | Journal article
Part of ISSN: 2041-1723
Source: Self-asserted source
Maarten Massink

Natural helix 9 mutants of PPARγ differently affect its transcriptional activity

Molecular metabolism
2019 | Journal article
Part of ISSN: 2212-8778
Source: Self-asserted source
Maarten Massink

Pulmonary fibrosis linked to variants in the <i>ACD</i> gene, encoding the telomere protein TPP1

The European respiratory journal
2019 | Journal article
Part of ISSN: 0903-1936
Source: Self-asserted source
Maarten Massink

A Single Complex <i>Agpat2</i> Allele in a Patient With Partial Lipodystrophy

Frontiers in physiology
2018 | Journal article
Part of ISSN: 1664-042X
Source: Self-asserted source
Maarten Massink

Genetic obesity: next-generation sequencing results of 1230 patients with obesity

Journal of medical genetics
2018 | Journal article
Part of ISSN: 0022-2593
Source: Self-asserted source
Maarten Massink

Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency

Gastroenterology
2018 | Journal article
Part of ISSN: 0016-5085
Source: Self-asserted source
Maarten Massink

Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome

European journal of human genetics : EJHG
2018 | Journal article
Part of ISSN: 1018-4813
Source: Self-asserted source
Maarten Massink

Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control

Nature genetics
2017 | Journal article
Part of ISSN: 1061-4036
Source: Self-asserted source
Maarten Massink

A Meta-Analysis of Retinoblastoma Copy Numbers Refines the List of Possible Driver Genes Involved in Tumor Progression

PloS one
2016 | Journal article
Part of ISSN: 1932-6203
Source: Self-asserted source
Maarten Massink

Somatic genomic alterations in retinoblastoma beyond RB1 are rare and limited to copy number changes

Scientific reports
2016 | Journal article
Part of ISSN: 2045-2322
Source: Self-asserted source
Maarten Massink

Genomic profiling of CHEK2*1100delC-mutated breast carcinomas

BMC cancer
2015 | Journal article
Part of ISSN: 1471-2407
Source: Self-asserted source
Maarten Massink

Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia

American journal of human genetics
2015 | Journal article
Part of ISSN: 0002-9297
Source: Self-asserted source
Maarten Massink

Proper genomic profiling of (BRCA1-mutated) basal-like breast carcinomas requires prior removal of tumor infiltrating lymphocytes

Molecular oncology
2015 | Journal article
Part of ISSN: 1574-7891
Source: Self-asserted source
Maarten Massink

Coregulation of FANCA and BRCA1 in human cells

SpringerPlus
2014 | Journal article
Part of ISSN: 2193-1801
Source: Self-asserted source
Maarten Massink

High resolution SNP array profiling identifies variability in retinoblastoma genome stability

Genes, chromosomes & cancer
2014 | Journal article
Part of ISSN: 1045-2257
Source: Self-asserted source
Maarten Massink

Proteomics of mouse BRCA1-deficient mammary tumors identifies DNA repair proteins with potential diagnostic and prognostic value in human breast cancer

Molecular & cellular proteomics : MCP
2012 | Journal article
Part of ISSN: 1535-9476
Source: Self-asserted source
Maarten Massink

Three-dimensional measurement and visualization of morphogenesis applied to cardiac embryology

Journal of microscopy
2007 | Journal article
Part of ISSN: 0022-2720
Source: Self-asserted source
Maarten Massink

Comparative analysis of the natriuretic peptide precursor gene cluster in vertebrates reveals loss of ANF and retention of CNP-3 in chicken

Developmental dynamics : an official publication of the American Association of Anatomists
2005 | Journal article
Part of ISSN: 1058-8388
Source: Self-asserted source
Maarten Massink

Peer review (1 review for 1 publication/grant)

Review activity for Journal of human genetics. (1)