List of works by Edwin Cuppen

5-Fluorouracil treatment induces characteristic T>G mutations in human cancer

scientific article published on 08 October 2019

A deep learning system accurately classifies primary and metastatic cancers using passenger mutation patterns

scientific article published on 05 February 2020

A functional screen identifies specific microRNAs capable of inhibiting human melanoma cell viability

scientific article

A genome-wide SNP panel for mapping and association studies in the rat.

scientific article

A hypomorphic mutation in Lpin1 induces progressively improving neuropathy and lipodystrophy in the rat

scientific article

A novel mutant allele of Ncx1: a single amino acid substitution leads to cardiac dysfunction

scientific journal article

A systematic genome-wide analysis of zebrafish protein-coding gene function

scientific article published on 17 April 2013

Accurate SNP and mutation detection by targeted custom microarray-based genomic enrichment of short-fragment sequencing libraries

scientific article

Application of exome sequencing in the search for genetic causes of rare disorders of copper metabolism

scientific article published on 04 May 2012

Approaches to microRNA discovery

scientific article

Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia

scientific article published on 14 May 2019

CASCAD: a database of annotated candidate single nucleotide polymorphisms associated with expressed sequences

scientific article

CONREAL web server: identification and visualization of conserved transcription factor binding sites

scientific article

Cancer cells copy migratory behavior and exchange signaling networks via extracellular vesicles

scientific article published on 14 June 2018

Cell autonomous lipin 1 function is essential for development and maintenance of white and brown adipose tissue

scientific article

Chromothripsis in healthy individuals affects multiple protein-coding genes and can result in severe congenital abnormalities in offspring

scientific article published on 19 March 2015

Chromothripsis is a common mechanism driving genomic rearrangements in primary and metastatic colorectal cancer

scientific article

Deficiency of nucleotide excision repair is associated with mutational signature observed in cancer

scientific article published on 20 June 2019

Detailed imaging and genetic analysis reveal a secondary BRAF(L505H) resistance mutation and extensive intrapatient heterogeneity in metastatic BRAF mutant melanoma patients treated with vemurafenib

scientific article

Diabetes risk gene and Wnt effector Tcf7l2/TCF4 controls hepatic response to perinatal and adult metabolic demand

scientific journal article

Different responses to DNA damage determine ageing differences between organs

scientific article published on 04 March 2022

Dominant-negative ALK2 allele associates with congenital heart defects

scientific article

E2F7 represses a network of oscillating cell cycle genes to control S-phase progression

scientific journal article

ENU mutagenesis to generate genetically modified rat models

scientific article published in January 2010

Early divergence of mutational processes in human fetal tissues

scientific article published on 29 May 2019

Efficient single nucleotide polymorphism discovery in laboratory rat strains using wild rat-derived SNP candidates

scientific article

Efficient target-selected mutagenesis in zebrafish

scientific article

Epigenomic annotation of gene regulatory alterations during evolution of the primate brain.

scientific article published on 25 January 2016

Ethical, legal, and counseling challenges surrounding the return of genetic results in oncology

scientific article published on 15 April 2013

Exploring conservation of transcription factor binding sites with CONREAL.

scientific article published in January 2007

Functional microRNA screening using a comprehensive lentiviral human microRNA expression library

scientific article

Functional repair of CFTR by CRISPR/Cas9 in intestinal stem cell organoids of cystic fibrosis patients

scientific article

GENOTRACE: cDNA-based local GENOme assembly from TRACE archives

scientific article

Generation of Genetically Modified Rodents Using Random ENU Mutagenesis

scientific article published on 01 January 2011

Genome-wide survey indicates involvement of loci on canine chromosomes 7 and 31 in patellar luxation in Flat-Coated Retrievers

scientific article

Haplotype block structure is conserved across mammals

scientific article

High-throughput target-selected gene inactivation in zebrafish

scientific article

Highly Efficient ENU Mutagenesis in Zebrafish.

scientific article published in January 2009

Hyperactivation of the G12-mediated signaling pathway in Caenorhabditis elegans induces a developmental growth arrest via protein kinase C.

scientific article

Identification and molecular characterization of BP75, a novel bromodomain-containing protein

scientific journal article

Identification of Srp9 as a febrile seizure susceptibility gene

scientific article published on 12 March 2014

Identification of factors required for meristem function in Arabidopsis using a novel next generation sequencing fast forward genetics approach

scientific article

Identification of genetic modifiers of behavioral phenotypes in serotonin transporter knockout rats

scientific article

Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus

scientific article

KOUNCIL: Kidney-Oriented Understanding of Correcting Ciliopathies.

scientific article published on 13 July 2015

Long-term culture of genome-stable bipotent stem cells from adult human liver

scientific article

Long-term expanding human airway organoids for disease modeling

scientific article published on 14 January 2019

Mammalian mirtron genes

scientific article

Mapping and phasing of structural variation in patient genomes using nanopore sequencing

scientific article published on 6 November 2017

Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations.

scientific article published on 09 October 2013

Measuring mutation accumulation in single human adult stem cells by whole-genome sequencing of organoid cultures

scientific article published on 7 December 2017

Mechanisms of Therapy Resistance in Patient-Derived Xenograft Models of BRCA1-Deficient Breast Cancer

scientific article published on 5 July 2016

Melanocortin receptor 4 deficiency affects body weight regulation, grooming behavior, and substrate preference in the rat

scientific journal article

Methods for small RNA preparation for digital gene expression profiling by next-generation sequencing

scientific article

Molecular dissection of germline chromothripsis in a developmental context using patient-derived iPS cells

scientific article published on 26 January 2017

Molecular tumour boards and molecular diagnostics for patients with cancer in the Netherlands: experiences, challenges, and aspirations

scientific article published on 27 May 2019

Next-generation sequencing approaches in genetic rodent model systems to study functional effects of human genetic variation

scientific article published on 18 April 2009

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects

scientific article

No link of serotonin 2C receptor editing to serotonin transporter genotype ⬇️

scientific article published on December 8, 2010

Nucleosomal DNA binding drives the recognition of H3K36-methylated nucleosomes by the PSIP1-PWWP domain

scientific article

Organoid models of human and mouse ductal pancreatic cancer

scientific article

Pan-cancer landscape of homologous recombination deficiency

scientific article published on 04 November 2020

Pancreatic cancer organoids recapitulate disease and allow personalized drug screening

scientific article published on 09 December 2019

Phylogenetic shadowing and computational identification of human microRNA genes

scientific article

Planar cell polarity defects and defective Vangl2 trafficking in mutants for the COPII gene Sec24b

scientific journal article

Portrait of a cancer: mutational signature analyses for cancer diagnostics

scientific article published on 15 May 2019

Precancerous liver diseases do not cause increased mutagenesis in liver stem cells

scientific article published on 18 November 2021

Predicting clinical benefit from everolimus in patients with advanced solid tumors, the CPCT-03 study

scientific article

Primary colorectal cancers and their subsequent hepatic metastases are genetically different: implications for selection of patients for targeted treatment

scientific article published on 15 December 2011

Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT.

scientific article published in February 2016

Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants

scientific article published on 04 December 2019

Proteins interacting with Caenorhabditis elegans Galpha subunits

scientific article

Publisher Correction: The mutational impact of culturing human pluripotent and adult stem cells

scientific article published on 04 August 2020

RAP-1 and the RAL-1/exocyst pathway coordinate hypodermal cell organization in Caenorhabditis elegans

scientific article

Rats go genomic.

scientific article published on 17 February 2006

Reconstructing single-cell karyotype alterations in colorectal cancer identifies punctuated and gradual diversification patterns

scientific article published on 01 July 2021

Reduced rates of gene loss, gene silencing, and gene mutation in Dnmt1-deficient embryonic stem cells.

scientific article

Sequential cancer mutations in cultured human intestinal stem cells.

scientific article published on 29 April 2015

Serotonin transporter deficiency increases abdominal fat in female, but not male rats.

scientific article published on 14 May 2009

Small RNA expression and strain specificity in the rat

scientific article

Sperm DNA damage causes genomic instability in early embryonic development

scientific article published on 15 April 2020

Systematic analysis of chromatin interactions at disease associated loci links novel candidate genes to inflammatory bowel disease

scientific article published on 30 November 2016

Systematic biases in DNA copy number originate from isolation procedures

scientific article

Target-selected mutagenesis of the rat.

scientific article

Targeted Next Generation Sequencing as a Reliable Diagnostic Assay for the Detection of Somatic Mutations in Tumours Using Minimal DNA Amounts from Formalin Fixed Paraffin Embedded Material

scientific article

The Atp1a1 gene from inbred Dahl salt sensitive rats does not contain the A1079T missense transversion

scientific article

The Genomic Scrapheap Challenge; Extracting Relevant Data from Unmapped Whole Genome Sequencing Reads, Including Strain Specific Genomic Segments, in Rats

scientific article

The PLETHORA Gene Regulatory Network Guides Growth and Cell Differentiation in Arabidopsis Roots

scientific article

The molecular genetic make-up of male breast cancer

scientific article published on 01 October 2019

The mutational impact of culturing human pluripotent and adult stem cells

scientific article published on 19 May 2020

The neuronal nitric oxide synthase PDZ motif binds to -G(D,E)XV* carboxyterminal sequences.

scientific article

The serotonin transporter knock-out rat: a review

article

The serotonin transporter plays an important role in male sexual behavior: a study in serotonin transporter knockout rats

scientific journal article

Toward effective software solutions for big biology

scientific article

Translational regulation shapes the molecular landscape of complex disease phenotypes.

scientific article published on 26 May 2015

Tubuloids derived from human adult kidney and urine for personalized disease modeling

scientific article published on 04 March 2019

Unscrambling cancer genomes via integrated analysis of structural variation and copy number

scientific article published in 2022

Use of CRISPR-modified human stem cell organoids to study the origin of mutational signatures in cancer.

scientific article

Wnt-induced transcriptional activation is exclusively mediated by TCF/LEF.

scientific article published on 10 January 2014

Zebrafish as a cancer model

scientific article published on May 2008

Zebrafish with mutations in mismatch repair genes develop neurofibromas and other tumors

scientific article published in July 2008

miR-127 protects proximal tubule cells against ischemia/reperfusion: identification of kinesin family member 3B as miR-127 target

scientific article (publication date: 2012)

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