Ans Van Den Ouweland

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Van Den Ouweland

Publications in SciGraph latest 50 shown

  • 2019-04 TP53 germline mutation testing in early-onset breast cancer: findings from a nationwide cohort in FAMILIAL CANCER
  • 2018-11 Substantial evidence for the clinical significance of missense variant BRCA1 c.5309G>T p.(Gly1770Val) in BREAST CANCER RESEARCH AND TREATMENT
  • 2018-07 Evaluation of current prediction models for Lynch syndrome: updating the PREMM5 model to identify PMS2 mutation carriers in FAMILIAL CANCER
  • 2017-12 Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease in ORPHANET JOURNAL OF RARE DISEASES
  • 2017-11 Association analysis identifies 65 new breast cancer risk loci in NATURE
  • 2017-10 Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2017-04 Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands in FAMILIAL CANCER
  • 2017 Clinical Genetics in MOLECULAR DIAGNOSTICS
  • 2017-01 Interdependence of clinical factors predicting cognition in children with tuberous sclerosis complex in JOURNAL OF NEUROLOGY
  • 2016-12 The CYLD p.R758X worldwide recurrent nonsense mutation detected in patients with multiple familial trichoepithelioma type 1, Brooke-Spiegler syndrome and familial cylindromatosis represents a mutational hotspot in the gene in BMC GENETICS
  • 2016-12 Genotype and brain pathology phenotype in children with tuberous sclerosis complex in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2016-12 Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus in BREAST CANCER RESEARCH
  • 2016-10 Cost-effectiveness of routine screening for Lynch syndrome in colorectal cancer patients up to 70 years of age in GENETICS IN MEDICINE
  • 2016-09 Recurrent HOXB13 mutations in the Dutch population do not associate with increased breast cancer risk in SCIENTIFIC REPORTS
  • 2015-12 Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations in BMC MEDICAL GENETICS
  • 2015-12 An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers in BREAST CANCER RESEARCH
  • 2015-12 Common germline polymorphisms associated with breast cancer-specific survival in BREAST CANCER RESEARCH
  • 2015-12 Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1 in BMC MEDICAL GENETICS
  • 2015-10 Sensitivity to systemic therapy for metastatic breast cancer in CHEK2 1100delC mutation carriers in JOURNAL OF CANCER RESEARCH AND CLINICAL ONCOLOGY
  • 2014-12 Apparently synonymous substitutions in FGFR2affect splicing and result in mild Crouzon syndrome in BMC MEDICAL GENETICS
  • 2014-12 2q36.3 is associated with prognosis for oestrogen receptor-negative breast cancer patients treated with chemotherapy in NATURE COMMUNICATIONS
  • 2014-12 Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers in BREAST CANCER RESEARCH
  • 2014-10 Targeted sequencing by proximity ligation for comprehensive variant detection and local haplotyping in NATURE BIOTECHNOLOGY
  • 2014-08 Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1 in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2014-02 Clinical utility gene card for: Tuberous sclerosis complex (TSC1, TSC2) in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2013-04 Large-scale genotyping identifies 41 new loci associated with breast cancer risk in NATURE GENETICS
  • 2013-04 Genome-wide association studies identify four ER negative–specific breast cancer risk loci in NATURE GENETICS
  • 2012-12 The TSC1-TSC2 complex consists of multiple TSC1 and TSC2 subunits in BMC BIOCHEMISTRY
  • 2012-11 Genome-wide association study identifies a common variant in RAD51B associated with male breast cancer risk in NATURE GENETICS
  • 2012-06 Association of PHB 1630 C>T and MTHFR 677 C>T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study in BRITISH JOURNAL OF CANCER
  • 2012-04 Gene expression profiling assigns CHEK2 1100delC breast cancers to the luminal intrinsic subtypes in BREAST CANCER RESEARCH AND TREATMENT
  • 2012-03 Genome-wide association analysis identifies three new breast cancer susceptibility loci in NATURE GENETICS
  • 2012-02 Peutz–Jeghers syndrome and family planning: the attitude towards prenatal diagnosis and pre-implantation genetic diagnosis in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2011-09 Multiplex ligation-depending probe amplification is not suitable for detection of low-grade mosaicism in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2011-07 Prevalence of the variant allele rs61764370 T>G in the 3′UTR of KRAS among Dutch BRCA1, BRCA2 and non-BRCA1/BRCA2 breast cancer families in BREAST CANCER RESEARCH AND TREATMENT
  • 2011-06 Compliance with periodic surveillance for Von-Hippel-Lindau disease in GENETICS IN MEDICINE
  • 2011-04 A combined analysis of genome-wide association studies in breast cancer in BREAST CANCER RESEARCH AND TREATMENT
  • 2011-03 Identification of a large rearrangement in CYLD as a cause of familial cylindromatosis in FAMILIAL CANCER
  • 2011-02 Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2010-12 Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2mutation carriers in BREAST CANCER RESEARCH
  • 2010-12 Increased MUTYH mutation frequency among Dutch families with breast cancer and colorectal cancer in BREAST CANCER RESEARCH AND TREATMENT
  • 2010-10 A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor–negative breast cancer in the general population in NATURE GENETICS
  • 2010-09 Association of rare MSH6 variants with familial breast cancer in BREAST CANCER RESEARCH AND TREATMENT
  • 2010-06 Genome-wide association study identifies five new breast cancer susceptibility loci in NATURE GENETICS
  • 2009-12 A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example in BMC CANCER
  • 2009-12 Attitude towards pre-implantation genetic diagnosis for hereditary cancer in FAMILIAL CANCER
  • 2009-12 Lack of large genomic deletions in BRIP1, PALB2, and FANCD2 genes in BRCA1/2 negative familial breast cancer in BREAST CANCER RESEARCH AND TREATMENT
  • 2009-12 Identification of a region required for TSC1 stability by functional analysis of TSC1missense mutations found in individuals with tuberous sclerosis complex in BMC MEDICAL GENETICS
  • 2009-07 CHEK2 1100delC and male breast cancer in the Netherlands in BREAST CANCER RESEARCH AND TREATMENT
  • 2009-06 A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2genes based on cancer family history in BREAST CANCER RESEARCH
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