Maarten P.G. Massink
University Medical Center Utrecht(NL)
Publications by Year
Research Areas
Cancer Genomics and Diagnostics, BRCA gene mutations in cancer, DNA Repair Mechanisms, Cancer-related Molecular Pathways, Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
Most-Cited Works
- → Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency(2018)118 cited
- → Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia(2015)116 cited
- → Somatic genomic alterations in retinoblastoma beyond RB1 are rare and limited to copy number changes(2016)115 cited
- → Genetic obesity: next-generation sequencing results of 1230 patients with obesity(2018)106 cited
- → Genomic profiling of CHEK2*1100delC-mutated breast carcinomas(2015)76 cited
- → A Meta-Analysis of Retinoblastoma Copy Numbers Refines the List of Possible Driver Genes Involved in Tumor Progression(2016)75 cited
- → Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome(2018)69 cited
- → Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control(2017)53 cited
- → Clonality, Antigen Recognition, and Suppression of CD8+ T Cells Differentially Affect Prognosis of Breast Cancer Subtypes(2019)49 cited
- → HNRNPH1 ‐related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome(2020)45 cited