List of works - Roland P Kuiper

Acquired mutations in TET2 are common in myelodysplastic syndromes

scientific article

Somatic mutations of the histone methyltransferase gene EZH2 in myelodysplastic syndromes

scientific article

A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia

scientific article

A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer

scientific article

High-resolution DNA copy number and gene expression analyses distinguish chromophobe renal cell carcinomas and renal oncocytomas

scientific article

Independent prognostic value of BCR-ABL1-like signature and IKZF1 deletion, but not high CRLF2 expression, in children with B-cell precursor ALL.

scientific article published on 23 August 2013

Upregulation of the transcription factor TFEB in t(6;11)(p21;q13)-positive renal cell carcinomas due to promoter substitution

scientific article

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

scientific article

Germline copy number variation and cancer risk

scientific article published on 08 April 2010

The Origin and Nature of Tightly Clustered BTG1 Deletions in Precursor B-Cell Acute Lymphoblastic Leukemia Support a Model of Multiclonal Evolution

scientific article published on February 16, 2012

Beyond KRAS mutation status: influence of KRAS copy number status and microRNAs on clinical outcome to cetuximab in metastatic colorectal cancer patients.

scientific article

Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.

scientific article

EPCAM deletion carriers constitute a unique subgroup of Lynch syndrome patients

scientific article published on June 2013

Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.

scientific article

Identification of candidate predisposing copy number variants in familial and early-onset colorectal cancer patients

scientific article

Integration of genetic and clinical risk factors improves prognostication in relapsed childhood B-cell precursor acute lymphoblastic leukemia

scientific article published on 26 May 2016

Reliable Next-Generation Sequencing of Formalin-Fixed, Paraffin-Embedded Tissue Using Single Molecule Tags

scientific article

Regulation of the MiTF/TFE bHLH-LZ transcription factors through restricted spatial expression and alternative splicing of functional domains

scientific article

IL-7 Receptor Mutations and Steroid Resistance in Pediatric T cell Acute Lymphoblastic Leukemia: A Genome Sequencing Study

scientific article

Lynch syndrome-associated extracolonic tumors are rare in two extended families with the same EPCAM deletion

scientific article published on 19 July 2011

Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer

scientific article

The epigenetics of (hereditary) colorectal cancer

scientific article

Recognition of genetic predisposition in pediatric cancer patients: An easy-to-use selection tool

scientific article published on January 26, 2016

High-resolution genomic profiling of pediatric lymphoblastic lymphomas reveals subtle differences with pediatric acute lymphoblastic leukemias in the B-lineage

scientific article

Tumor suppressors BTG1 and IKZF1 cooperate during mouse leukemia development and increase relapse risk in B-cell precursor acute lymphoblastic leukemia patients

scientific article

Analyzing structure-function relationships of artificial and cancer-associated PARP1 variants by reconstituting TALEN-generated HeLa PARP1 knock-out cells

scientific article

NTHL1 and MUTYH polyposis syndromes: two sides of the same coin?

scientific article published on 3 November 2017

High yield of pathogenic germline mutations causative or likely causative of the cancer phenotype in selected children with cancer

scientific article published on 19 January 2018

Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing

scientific article published on 6 September 2017

Cell-type-specific and selectively induced expression of members of the p24 family of putative cargo receptors.

scientific article

A molecular inversion probe-based next-generation sequencing panel to detect germline mutations in Chinese early-onset colorectal cancer patients

scientific article

NTHL1 defines novel cancer syndrome

scientific article

Microarray-based genomic profiling and in situ hybridization on fibrotic bone marrow biopsies for the identification of numerical chromosomal abnormalities in myelodysplastic syndrome

scientific article published on May 28, 2015

Accurate detection of low-level mosaic mutations in pediatric acute lymphoblastic leukemia using single molecule tagging and deep-sequencing.

scientific article

De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism

scientific article published on 28 March 2019

Glucocorticoid Resistant Pediatric Acute Lymphoblastic Leukemia Samples Display Altered Splicing Profile and Vulnerability to Spliceosome Modulation

scientific article published on 19 March 2020

List of works by Roland P Kuiper

Acquired mutations in TET2 are common in myelodysplastic syndromes

Somatic mutations of the histone methyltransferase gene EZH2 in myelodysplastic syndromes

A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia

A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer

High-resolution DNA copy number and gene expression analyses distinguish chromophobe renal cell carcinomas and renal oncocytomas

Independent prognostic value of BCR-ABL1-like signature and IKZF1 deletion, but not high CRLF2 expression, in children with B-cell precursor ALL.

Upregulation of the transcription factor TFEB in t(6;11)(p21;q13)-positive renal cell carcinomas due to promoter substitution

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

Germline copy number variation and cancer risk

The Origin and Nature of Tightly Clustered BTG1 Deletions in Precursor B-Cell Acute Lymphoblastic Leukemia Support a Model of Multiclonal Evolution

Beyond KRAS mutation status: influence of KRAS copy number status and microRNAs on clinical outcome to cetuximab in metastatic colorectal cancer patients.

Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.

EPCAM deletion carriers constitute a unique subgroup of Lynch syndrome patients

Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.

Identification of candidate predisposing copy number variants in familial and early-onset colorectal cancer patients

Integration of genetic and clinical risk factors improves prognostication in relapsed childhood B-cell precursor acute lymphoblastic leukemia

Reliable Next-Generation Sequencing of Formalin-Fixed, Paraffin-Embedded Tissue Using Single Molecule Tags

Regulation of the MiTF/TFE bHLH-LZ transcription factors through restricted spatial expression and alternative splicing of functional domains

IL-7 Receptor Mutations and Steroid Resistance in Pediatric T cell Acute Lymphoblastic Leukemia: A Genome Sequencing Study

Lynch syndrome-associated extracolonic tumors are rare in two extended families with the same EPCAM deletion

Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer

The epigenetics of (hereditary) colorectal cancer

Recognition of genetic predisposition in pediatric cancer patients: An easy-to-use selection tool

High-resolution genomic profiling of pediatric lymphoblastic lymphomas reveals subtle differences with pediatric acute lymphoblastic leukemias in the B-lineage

Tumor suppressors BTG1 and IKZF1 cooperate during mouse leukemia development and increase relapse risk in B-cell precursor acute lymphoblastic leukemia patients

Analyzing structure-function relationships of artificial and cancer-associated PARP1 variants by reconstituting TALEN-generated HeLa PARP1 knock-out cells

NTHL1 and MUTYH polyposis syndromes: two sides of the same coin?

High yield of pathogenic germline mutations causative or likely causative of the cancer phenotype in selected children with cancer

Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing

Cell-type-specific and selectively induced expression of members of the p24 family of putative cargo receptors.

A molecular inversion probe-based next-generation sequencing panel to detect germline mutations in Chinese early-onset colorectal cancer patients

NTHL1 defines novel cancer syndrome

Microarray-based genomic profiling and in situ hybridization on fibrotic bone marrow biopsies for the identification of numerical chromosomal abnormalities in myelodysplastic syndrome

Accurate detection of low-level mosaic mutations in pediatric acute lymphoblastic leukemia using single molecule tagging and deep-sequencing.

De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism

Glucocorticoid Resistant Pediatric Acute Lymphoblastic Leukemia Samples Display Altered Splicing Profile and Vulnerability to Spliceosome Modulation