List of works - Quinten Waisfisz

A cross-linker-sensitive myeloid leukemia cell line from a 2-year-old boy with severe Fanconi anemia and biallelic FANCD1/BRCA2 mutations.

scientific article

A de novo FLCN mutation in a patient with spontaneous pneumothorax and renal cancer; a clinical and molecular evaluation

scientific article

A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age.

scientific article

A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11.

scientific article

A novel splice site mutation in the noncoding region of BRCA2: implications for Fanconi anemia and familial breast cancer diagnostics

scientific article

A novel ubiquitin ligase is deficient in Fanconi anemia

scientific article (publication date: October 2003)

A physical complex of the Fanconi anemia proteins FANCG/XRCC9 and FANCA

scientific article

A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy

scientific article

A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer

scientific article published on 18 June 2018

Aberrant Fanconi anaemia protein profiles in acute myeloid leukaemia cells

scientific article (publication date: December 2000)

Aberrant Fanconi anaemia protein profiles in acute myeloid leukaemia cells

article

Acute intermittent porphyria-related leukoencephalopathy

scientific article published on 24 August 2016

Age- and Tumor Subtype-Specific Breast Cancer Risk Estimates for CHEK2*1100delC Carriers

scientific article

Altered PLP1 splicing causes hypomyelination of early myelinating structures.

scientific article published on May 2015

Analysis of baseline and cisplatin-inducible gene expression in Fanconi anemia cells using oligonucleotide-based microarrays

scientific article

Analysis of the novel fanconi anemia gene SLX4/FANCP in familial breast cancer cases

scientific article published on 11 October 2012

Association analysis identifies 65 new breast cancer risk loci.

scientific article published on 23 October 2017

Associations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis

article by Xiang Shu et al published 1 October 2018 in International Journal of Epidemiology

Best Practice Guidelines for the Use of Next-Generation Sequencing Applications in Genome Diagnostics: A National Collaborative Study of Dutch Genome Diagnostic Laboratories ⬇️

scientific article published on August 19, 2013

Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy

scientific article published on 15 March 2018

Bi-allelic silencing of the Fanconi anaemia gene FANCF in acute myeloid leukaemia

scientific article published on November 2003

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

Biallelic inactivation of BRCA2 in Fanconi anemia

scientific article (publication date: 26 July 2002)

CHEK2*1100delC homozygosity is associated with a high breast cancer risk in women

scientific article published on 5 November 2011

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

scientific article published on 24 October 2019

Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers

scientific article published on 05 August 2009

Complementation analysis in Fanconi anemia: assignment of the reference FA-H patient to group A

scientific article published on 8 August 2000

Concurrent methylation of promoters from tumor associated genes predicts outcome in acute myeloid leukemia.

scientific article published in June 2008

Correlation of minimal residual disease cell frequency with molecular genotype in patients with acute myeloid leukemia

scientific article published on 27 November 2008

Cytoplasmic localization of a functionally active Fanconi anemia group A-green fluorescent protein chimera in human 293 cells ⬇️

scientific article published on November 1, 1997

Direct interactions of the five known Fanconi anaemia proteins suggest a common functional pathway

scientific article (publication date: 15 February 2001)

Early-Onset Severe Encephalopathy with Epilepsy: The BRAT1 Gene Should Be Added to the List of Causes

scientific article published on 4 November 2015

Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2.

scientific article

Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers

scientific article

Excess breast cancer risk in first degree relatives of CHEK2∗1100delC positive familial breast cancer cases

scientific article published on 14 February 2013

Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy

scientific article published on 12 March 2013

Fanconi anemia gene mutations are not involved in sporadic Wilms tumor

scientific article published on 01 October 2010

First steps in exploring prospective exome sequencing of consanguineous couples

scientific article published on 02 October 2014

Genetic determinants of risk and survival in pulmonary arterial hypertension

article

Genetic reversion in an acute myelogenous leukemia cell line from a Fanconi anemia patient with biallelic mutations in BRCA2 ⬇️

scientific article published on May 15, 2003

Genome-wide association analysis identifies three new breast cancer susceptibility loci

scientific article published on 22 January 2012

Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

scientific article

Genome-wide association studies identify four ER negative-specific breast cancer risk loci

scientific article published in April 2013

Genomic profiling of CHEK2*1100delC-mutated breast carcinomas

scientific article published on 9 November 2015

Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms

scientific article published on 21 August 2020

Heterogeneity in Fanconi anemia: evidence for 2 new genetic subtypes

scientific article

High stem cell frequency in acute myeloid leukemia at diagnosis predicts high minimal residual disease and poor survival

scientific article

Hypermethylation of the FANCC and FANCL promoter regions in sporadic acute leukaemia.

scientific article published in January 2008

Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation

scientific article

Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk

scientific article

Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence

scientific article

Identification of rare sequence variation underlying heritable pulmonary arterial hypertension

scientific article published on 12 April 2018

Identification of the Fanconi anemia complementation group I gene, FANCI.

scientific article published in January 2007

Inactivating Mutations in GT198 in Familial and Early-Onset Breast and Ovarian Cancers

scientific article

Inducibility of nuclear Rad51 foci after DNA damage distinguishes all Fanconi anemia complementation groups from D1/BRCA2.

scientific article published on 8 September 2005

Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2

scientific article published on 09 October 2020

Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer

scientific article

Isolation of a cDNA Representing the Fanconi Anemia Complementation Group E Gene

article

Isolation of a cDNA representing the Fanconi anemia complementation group E gene

scientific article

Lack of large genomic deletions in BRIP1, PALB2, and FANCD2 genes in BRCA1/2 negative familial breast cancer

scientific article published on 06 June 2009

Large-scale genotyping identifies 41 new loci associated with breast cancer risk

scientific article

Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy

scientific journal article

MLC1: a novel protein in distal astroglial processes

scientific article

Methylation-specific MLPA (MS-MLPA): simultaneous detection of CpG methylation and copy number changes of up to 40 sequences

scientific article

MicroRNA related polymorphisms and breast cancer risk

scientific article

Mutations in RARS cause hypomyelination

scientific article (publication date: July 2014)

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

scientific article

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

scientific article published on September 2015

PLS3 mutations in X-linked osteoporosis with fractures

scientific article

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

scientific article published on 13 January 2015

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

scientific article

Recessive ITPA mutations cause an early infantile encephalopathy

scientific article published on 29 July 2015

Reflecting on earlier experiences with unsolicited findings: points to consider for next-generation sequencing and informed consent in diagnostics

scientific article

Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion

scientific article

Routine testing for PALB2 mutations in familial pancreatic cancer families and breast cancer families with pancreatic cancer is not indicated

scientific article published on 14 December 2011

Spontaneous abrogation of the G₂DNA damage checkpoint has clinical benefits but promotes leukemogenesis in Fanconi anemia patients

scientific article

Spontaneous functional correction of homozygous Fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism

article

The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J

article

The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM

scientific article (publication date: 2000)

The Fanconi anaemia group G gene FANCG is identical with XRCC9

scientific article

The Fanconi anemia gene product FANCF is a flexible adaptor protein

scientific article

The Fanconi anemia group E gene, FANCE, maps to chromosome 6p

scientific article

The Fanconi anemia protein FANCF forms a nuclear complex with FANCA, FANCC and FANCG

scientific article

The cellular phenotype of Roberts syndrome fibroblasts as revealed by ectopic expression of ESCO2

scientific article

UFM1 founder mutation in the Roma population causes recessive variant of H-ABC.

scientific article

Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry

scientific article published on 11 July 2022

WISExome: a within-sample comparison approach to detect copy number variations in whole exome sequencing data

scientific article published on 8 November 2017

Yeast two-hybrid screens imply involvement of Fanconi anemia proteins in transcription regulation, cell signaling, oxidative metabolism, and cellular transport

scientific article (publication date: October 2003)

List of works by Quinten Waisfisz

A cross-linker-sensitive myeloid leukemia cell line from a 2-year-old boy with severe Fanconi anemia and biallelic FANCD1/BRCA2 mutations.

A de novo FLCN mutation in a patient with spontaneous pneumothorax and renal cancer; a clinical and molecular evaluation

A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age.

A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11.

A novel splice site mutation in the noncoding region of BRCA2: implications for Fanconi anemia and familial breast cancer diagnostics

A novel ubiquitin ligase is deficient in Fanconi anemia

A physical complex of the Fanconi anemia proteins FANCG/XRCC9 and FANCA

A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy

A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer

Aberrant Fanconi anaemia protein profiles in acute myeloid leukaemia cells

Aberrant Fanconi anaemia protein profiles in acute myeloid leukaemia cells

Acute intermittent porphyria-related leukoencephalopathy

Age- and Tumor Subtype-Specific Breast Cancer Risk Estimates for CHEK2*1100delC Carriers

Altered PLP1 splicing causes hypomyelination of early myelinating structures.

Analysis of baseline and cisplatin-inducible gene expression in Fanconi anemia cells using oligonucleotide-based microarrays

Analysis of the novel fanconi anemia gene SLX4/FANCP in familial breast cancer cases

Association analysis identifies 65 new breast cancer risk loci.

Associations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis

Best Practice Guidelines for the Use of Next-Generation Sequencing Applications in Genome Diagnostics: A National Collaborative Study of Dutch Genome Diagnostic Laboratories ⬇️

Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy

Bi-allelic silencing of the Fanconi anaemia gene FANCF in acute myeloid leukaemia

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

Biallelic inactivation of BRCA2 in Fanconi anemia

CHEK2*1100delC homozygosity is associated with a high breast cancer risk in women

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

Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers

Complementation analysis in Fanconi anemia: assignment of the reference FA-H patient to group A

Concurrent methylation of promoters from tumor associated genes predicts outcome in acute myeloid leukemia.

Correlation of minimal residual disease cell frequency with molecular genotype in patients with acute myeloid leukemia

Cytoplasmic localization of a functionally active Fanconi anemia group A-green fluorescent protein chimera in human 293 cells ⬇️

Direct interactions of the five known Fanconi anaemia proteins suggest a common functional pathway

Early-Onset Severe Encephalopathy with Epilepsy: The BRAT1 Gene Should Be Added to the List of Causes

Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2.

Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers

Excess breast cancer risk in first degree relatives of CHEK2∗1100delC positive familial breast cancer cases

Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy

Fanconi anemia gene mutations are not involved in sporadic Wilms tumor

First steps in exploring prospective exome sequencing of consanguineous couples

Genetic determinants of risk and survival in pulmonary arterial hypertension

Genetic reversion in an acute myelogenous leukemia cell line from a Fanconi anemia patient with biallelic mutations in BRCA2 ⬇️

Genome-wide association analysis identifies three new breast cancer susceptibility loci

Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

Genome-wide association studies identify four ER negative-specific breast cancer risk loci

Genomic profiling of CHEK2*1100delC-mutated breast carcinomas

Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms

Heterogeneity in Fanconi anemia: evidence for 2 new genetic subtypes

High stem cell frequency in acute myeloid leukemia at diagnosis predicts high minimal residual disease and poor survival

Hypermethylation of the FANCC and FANCL promoter regions in sporadic acute leukaemia.

Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation

Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk

Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence

Identification of rare sequence variation underlying heritable pulmonary arterial hypertension

Identification of the Fanconi anemia complementation group I gene, FANCI.

Inactivating Mutations in GT198 in Familial and Early-Onset Breast and Ovarian Cancers

Inducibility of nuclear Rad51 foci after DNA damage distinguishes all Fanconi anemia complementation groups from D1/BRCA2.

Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2

Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer

Isolation of a cDNA Representing the Fanconi Anemia Complementation Group E Gene

Isolation of a cDNA representing the Fanconi anemia complementation group E gene

Lack of large genomic deletions in BRIP1, PALB2, and FANCD2 genes in BRCA1/2 negative familial breast cancer

Large-scale genotyping identifies 41 new loci associated with breast cancer risk

Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy

MLC1: a novel protein in distal astroglial processes

Methylation-specific MLPA (MS-MLPA): simultaneous detection of CpG methylation and copy number changes of up to 40 sequences

MicroRNA related polymorphisms and breast cancer risk

Mutations in RARS cause hypomyelination

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

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

PLS3 mutations in X-linked osteoporosis with fractures

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

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

Recessive ITPA mutations cause an early infantile encephalopathy

Reflecting on earlier experiences with unsolicited findings: points to consider for next-generation sequencing and informed consent in diagnostics

Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion

Routine testing for PALB2 mutations in familial pancreatic cancer families and breast cancer families with pancreatic cancer is not indicated

Spontaneous abrogation of the G₂DNA damage checkpoint has clinical benefits but promotes leukemogenesis in Fanconi anemia patients

Spontaneous functional correction of homozygous Fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism

The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J