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Lista de obras de 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.

artículo científico publicado en 2005

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

artículo científico publicado en 2013

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.

artículo científico publicado en 2014

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

artículo científico publicado en 2012

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

artículo científico publicado en 2014

A novel ubiquitin ligase is deficient in Fanconi anemia

artículo científico publicado en 2003

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

artículo científico publicado en 1999

A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy

artículo científico publicado en 2017

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

artículo científico publicado en 2018

Aberrant Fanconi anaemia protein profiles in acute myeloid leukaemia cells

artículo científico publicado en 2000

Aberrant Fanconi anaemia protein profiles in acute myeloid leukaemia cells

article

Acute intermittent porphyria-related leukoencephalopathy

artículo científico publicado en 2016

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

artículo científico publicado en 2016

Altered PLP1 splicing causes hypomyelination of early myelinating structures.

artículo científico publicado en 2015

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

artículo científico publicado en 2002

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

artículo científico publicado en 2012

Association analysis identifies 65 new breast cancer risk loci.

artículo científico publicado en 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 ⬇️

artículo científico publicado el 19 de agosto de 2013

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

artículo científico publicado en 2018

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

artículo científico publicado en 2003

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

artículo científico publicado en 2002

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

artículo científico publicado en 2011

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

artículo científico publicado en 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

artículo científico publicado en 2000

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

artículo científico publicado en 2008

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

artículo científico publicado en 2008

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

artículo científico publicado el 1 de noviembre de 1997

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

artículo científico publicado en 2001

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

artículo científico publicado en 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.

artículo científico publicado en 2011

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

artículo científico publicado en 2010

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

artículo científico publicado en 2013

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

artículo científico publicado en 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

artículo científico publicado en 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 ⬇️

artículo científico publicado el 15 de mayo de 2003

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

artículo científico publicado en 2012

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

Genomic profiling of CHEK2*1100delC-mutated breast carcinomas

artículo científico publicado en 2015

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

artículo científico publicado en 2020

Heterogeneity in Fanconi anemia: evidence for 2 new genetic subtypes

artículo científico publicado en 2003

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

artículo científico publicado en 2005

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

artículo científico publicado en 2008

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

Identification of rare sequence variation underlying heritable pulmonary arterial hypertension

artículo científico publicado en 2018

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

artículo científico publicado en 2007

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

artículo científico publicado en 2013

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

artículo científico publicado en 2005

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

artículo científico publicado en 2020

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

artículo científico publicado en 2011

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

artículo científico publicado en 2000

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

artículo científico publicado en 2009

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

artículo científico publicado en 2013

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

scientific journal article

MLC1: a novel protein in distal astroglial processes

artículo científico publicado en 2005

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

artículo científico publicado en 2005

MicroRNA related polymorphisms and breast cancer risk

artículo científico publicado en 2014

Mutations in RARS cause hypomyelination

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

PLS3 mutations in X-linked osteoporosis with fractures

artículo científico publicado en 2013

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

artículo científico publicado en 2015

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

artículo científico publicado en 2012

Recessive ITPA mutations cause an early infantile encephalopathy

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 2005

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

artículo científico publicado en 2011

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

artículo científico publicado en 2010

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

artículo científico publicado en 2000

The Fanconi anaemia group G gene FANCG is identical with XRCC9

artículo científico publicado en 1998

The Fanconi anemia gene product FANCF is a flexible adaptor protein

artículo científico publicado en 2004

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

artículo científico publicado en 1999

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

artículo científico publicado en 2000

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

artículo científico publicado en 2009

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

artículo científico publicado en 2017

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

artículo científico publicado en 2022

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

artículo científico publicado en 2017

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

artículo científico publicado en 2003

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