A. V. D. van den Ouweland

发表

Prediction of Breast Cancer Risk Based on Profiling With Common Genetic Variants

Jane E. Carpenter, Jaana M. Hartikainen, Sandra L. Halverson, 2015, JNCI Journal of the National Cancer Institute.

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.

S Povey, D Ravine, D Lindhout, 1997, Science.

Identification and Characterization of the Interaction between Tuberin and 14-3-3ζ*

A. V. D. van den Ouweland, M. Goedbloed, M. Nellist, 2002, The Journal of Biological Chemistry.

Association analysis identifies 65 new breast cancer risk loci

Gary D Bader, Jaana M. Hartikainen, Jeffery M. Meyer, 2017, Nature.

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

Jane E. Carpenter, Jaana M. Hartikainen, W. Chung, 2019, Nature Genetics.

Identification of Novel Genetic Markers of Breast Cancer Survival

Peter Kraft, Nazneen Rahman, Janet A. Dunn, 2015, Journal of the National Cancer Institute.

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

A. W. van der Vaart, A. van der Vaart, H. Meijers-Heijboer, 2011, Journal of Medical Genetics.

Heterogeneity of Breast Cancer Associations with Five Susceptibility Loci by Clinical and Pathological Characteristics

Peter Kraft, Michael Bremer, Simon S. Cross, 2008, PLoS genetics.

Fine-scale mapping of the FGFR2 breast cancer risk locus: putative functional variants differentially bind FOXA1 and E2F1.

Wei Lu, Nina Ditsch, Julian Peto, 2013, American journal of human genetics.

Common C-to-T substitution at position -480 of the hepatic lipase promoter associated with a lowered lipase activity in coronary artery disease patients.

J. Jukema, A. V. D. van den Ouweland, J. Kastelein, 1997, Arteriosclerosis, thrombosis, and vascular biology.

TP53 germline mutation testing in early-onset breast cancer: findings from a nationwide cohort

M. Blok, C. V. van Asperen, A. V. D. van den Ouweland, 2019, Familial Cancer.

Variants in CHEK2 other than 1100delC do not make a major contribution to breast cancer susceptibility.

Nazneen Rahman, Carel Meijers, Sheila Seal, 2003, American journal of human genetics.

Retinal haemangioblastomas in von Hippel–Lindau germline mutation carriers: progression, complications and treatment outcome

A. V. D. van den Ouweland, R. Oldenburg, A. de Klein, 2019, Acta ophthalmologica.

Ipsilateral breast tumour recurrence in hereditary breast cancer following breast-conserving therapy.

J. Klijn, C. Seynaeve, A. V. D. van den Ouweland, 2004, European journal of cancer.

Inheritance of mutations in the V2 receptor gene in thirteen families with nephrogenic diabetes insipidus.

B. V. van Oost, A. V. D. van den Ouweland, N. Knoers, 1994, Kidney international.

Identification and characterization of a new gene in the human Xq28 region.

A. Poustka, F. Tamanini, B. V. van Oost, 1992, Human Molecular Genetics.

Androgen Pathway Dysregulation in BRCA1-Mutated Breast Tumors

T. H. van der Kwast, J. Klijn, M. Timmermans, 2003, Breast Cancer Research and Treatment.

Large regional differences in the frequency of distinct BRCA1/BRCA2 mutations in 517 Dutch breast and/or ovarian cancer families.

J. Klijn, E. Berns, P. Devilee, 2001, European journal of cancer.

Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation

S. Verhoef, A. V. D. van den Ouweland, D. Lindhout, 1999, Journal of medical genetics.

Yield of routine molecular analyses in colorectal cancer patients ≤70 years to detect underlying Lynch syndrome

E. Kuipers, E. Steyerberg, A. V. D. van den Ouweland, 2012, The Journal of pathology.

Functional Assessment of TSC2 Variants Identified in Individuals with Tuberous Sclerosis Complex

R. Ekong, S. Povey, A. V. D. van den Ouweland, 2013, Human mutation.

The TSC1-TSC2 complex consists of multiple TSC1 and TSC2 subunits

A. V. D. van den Ouweland, M. Nellist, D. Halley, 2012, BMC Biochemistry.

Functional characterization of the TSC2 c.3598C>T (p.R1200W) missense mutation that co‐segregates with tuberous sclerosis complex in mildly affected kindreds

M. Wentink, A. V. D. van den Ouweland, M. Nellist, 2012, Clinical genetics.

Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex

R. Ekong, S. Povey, A. V. D. van den Ouweland, 2012, Human mutation.

Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex

Stephanie E. Vallee, R. Ekong, M. Wentink, 2011, Human mutation.

Analysis of TSC1 truncations defines regions involved in TSC1 stability, aggregation and interaction.

A. V. D. van den Ouweland, M. Nellist, D. Halley, 2010, Biochimica et biophysica acta.

Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation

F. Dubeau, F. Andermann, A. V. D. van den Ouweland, 2006, Annals of neurology.

Large deletion at the TSC1 locus in a family with tuberous sclerosis complex.

A. V. D. van den Ouweland, M. Goedbloed, D. Lindhout, 2005, Genetic testing.

TSC2 missense mutations inhibit tuberin phosphorylation and prevent formation of the tuberin-hamartin complex.

A. V. D. van den Ouweland, M. Goedbloed, M. Nellist, 2001, Human molecular genetics.

An unbalanced submicroscopic translocation t(8;16)(q24.3;p13.3)pat associated with tuberous sclerosis complex, adult polycystic kidney disease, and hypomelanosis of Ito

S. Verhoef, A. V. D. van den Ouweland, D. Halley, 2000, Journal of medical genetics.

Uniparental disomy with and without confined placental mosaicism: a model for trisomic zygote rescue

S. Verhoef, A. V. D. van den Ouweland, D. Halley, 1998, Prenatal diagnosis.

Familial cylindromatosis mimicking tuberous sclerosis complex and confirmation of the cylindromatosis locus, CYLD1, in a large family.

S. Verhoef, A. V. D. van den Ouweland, D. Lindhout, 1998, Journal of medical genetics.

Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex.

S. Verhoef, A. V. D. van den Ouweland, D. Lindhout, 1996, Journal of medical genetics.

Cost-effectiveness of routine screening for Lynch syndrome in endometrial cancer patients up to 70years of age.

E. Steyerberg, A. V. D. van den Ouweland, A. Wagner, 2016, Gynecologic oncology.

Prospective evaluation of molecular screening for Lynch syndrome in patients with endometrial cancer ≤ 70 years.

E. Kuipers, E. Steyerberg, A. V. D. van den Ouweland, 2012, Gynecologic oncology.

Association of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21

S. Cross, P. Fasching, A. Børresen-Dale, 2016, Oncotarget.

Identification of a large rearrangement in CYLD as a cause of familial cylindromatosis

A. V. D. van den Ouweland, S. Franken, R. Lamping, 2010, Familial Cancer.

Genome‐wide linkage scan in Dutch hereditary non‐BRCA1/2 breast cancer families identifies 9q21‐22 as a putative breast cancer susceptibility locus

J. Houwing-Duistermaat, P. Devilee, H. Meijers-Heijboer, 2008, Genes, chromosomes & cancer.

Positional cloning of a gene involved in hereditary multiple exostoses.

B. D. de Vries, N. Nowak, T. Shows, 1996, Human molecular genetics.

Genome-wide association study of germline variants and breast cancer-specific mortality

A. Whittemore, W. Willett, S. Cross, 2019, British Journal of Cancer.

Yield of Lynch Syndrome Surveillance for Patients With Pathogenic Variants in DNA Mismatch Repair Genes.

A. V. D. van den Ouweland, A. Wagner, W. Dinjens, 2020, Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association.

A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families.

G. Pals, P. Devilee, A. V. D. van den Ouweland, 1997, American journal of human genetics.

BMC Cancer

Leila Mohammadi, Peter Devilee, H. V. van Houwelingen, 2001 .

Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands

A. Moll, H. Meijers-Heijboer, A. V. D. van den Ouweland, 2016, Familial Cancer.

Genetic Predisposition to In Situ and Invasive Lobular Carcinoma of the Breast

Julian Peto, Matthias W. Beckmann, Peter A. Fasching, 2014, PLoS genetics.

Acute myeloid leukaemia in a case with Tatton-Brown-Rahman syndrome: the peculiar DNMT3A R882 mutation

A. V. D. van den Ouweland, A. Wagner, C. Zwaan, 2017, Journal of Medical Genetics.

Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3

W. Chung, R. Nussbaum, F. Couch, 2016, Breast Cancer Research and Treatment.

Linkage analysis of 56 multiplex families excludes the Cowden disease genePTEN as a major contributor to familial breast cancer

D. Easton, S. Seal, M. Stratton, 1999, Journal of medical genetics.

Sensitivity to systemic therapy for metastatic breast cancer in CHEK2 1100delC mutation carriers

A. Sieuwerts, E. Berns, A. Hollestelle, 2015, Journal of Cancer Research and Clinical Oncology.

Nucleotide sequence analysis of the human fur gene.

A. V. D. van den Ouweland, A. Roebroek, W. V. D. Van de Ven, 1989, Nucleic acids research.

Cost-effectiveness of routine screening for Lynch syndrome in colorectal cancer patients up to 70 years of age

E. Kuipers, E. Steyerberg, A. V. D. van den Ouweland, 2016, Genetics in Medicine.

Low-penetrance susceptibility to breast cancer due to CHEK2*1100delC in noncarriers of BRCA1 or BRCA2 mutations

Nazneen Rahman, Carel Meijers, Julian Peto, 2002, Nature Genetics.

Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability

A. V. D. van den Ouweland, M. Lequin, S. Twigg, 2015, American journal of human genetics.

A novel mutation in FGFR2

A. V. D. van den Ouweland, A. Verkerk, P. J. van der Spek, 2015, American journal of medical genetics. Part A.

Characterization of the feline c-abl proto-oncogene.

A. V. D. van den Ouweland, J. Schalken, W. V. D. Van de Ven, 1985, Biochimica et biophysica acta.

A prospective 10 year follow up study of patients with neurofibromatosis type 1

H. Simonsz, A. V. D. van den Ouweland, H. Stroink, 1998, Archives of disease in childhood.

Structural analysis of a variant clone of Snyder-Theilen feline sarcoma virus.

A. V. D. van den Ouweland, W. V. D. Van de Ven, A. W. van der Kemp, 1987, Virus research.

Molecular cloning of the feline c-fes proto-oncogene and construction of a chimeric transforming gene.

A. V. D. van den Ouweland, A. Roebroek, J. Schalken, 1985, Gene.

Refinement of the multiple exostoses locus (EXT2) to a 3-cM interval on chromosome 11.

B. D. de Vries, A. V. D. van den Ouweland, J. Hecht, 1995, American journal of human genetics.

Extending the p16-Leiden tumour spectrum by respiratory tract tumours

P. Devilee, H. Meijers-Heijboer, A. V. D. van den Ouweland, 2004, Journal of Medical Genetics.

Deletions spanning the neurofibromatosis type 1 gene: Implications for genotype‐phenotype correlations in neurofibromatosis type 1?

C. V. van Asperen, A. V. D. van den Ouweland, M. Breuning, 1997, Human mutation.

Angelman syndrome: AS phenotype correlated with specific EEG pattern may result in a high detection rate of mutations in theUBE3A gene

C. Catsman-Berrevoets, A. V. D. van den Ouweland, D. Halley, 1999, Journal of medical genetics.

The growth response to GH treatment is greater in patients with SHOX enhancer deletions compared to SHOX defects.

A. V. D. van den Ouweland, M. Losekoot, J. Wit, 2015, European journal of endocrinology.

Familial translocations involving 15q11-q13 can give rise to interstitial deletions causing Prader-Willi or Angelman syndrome.

A. V. D. van den Ouweland, B. Horsthemke, G. Gillessen‐kaesbach, 1996, Journal of medical genetics.

Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women.

Jaana M. Hartikainen, M. Beckmann, P. Fasching, 2021, The New England journal of medicine.

Clinical and genetic analysis of patients with Saethre-Chotzen syndrome.

A. V. D. van den Ouweland, S. Hovius, A. de Klein, 2005, Plastic and reconstructive surgery.

An intergenic risk locus containing an enhancer deletion in 2q35 modulates breast cancer risk by deregulating IGFBP5 expression.

M. Beckmann, P. Fasching, K. Czene, 2016, Human molecular genetics.

Sensitivity to first-line chemotherapy for metastatic breast cancer in BRCA1 and BRCA2 mutation carriers.

J. Klijn, H. Meijers-Heijboer, M. Hooning, 2009, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Effectiveness of breast cancer surveillance in BRCA1/2 gene mutation carriers and women with high familial risk.

J. Klijn, C. Seynaeve, A. V. D. van den Ouweland, 2001, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

The human renin-binding protein gene (RENBP) maps in Xq28.

A. Poustka, B. V. van Oost, A. V. D. van den Ouweland, 1994, Genomics.

Fine mapping of the human biglycan (BGN) gene within the Xq28 region employing a hybrid cell panel.

M. Rocchi, W. Vogel, S. Warren, 1992, Genomics.

Identification of a BRCA2-Specific Modifier Locus at 6p24 Related to Breast Cancer Risk

D. Altshuler, P. Fasching, P. Hall, 2013, PLoS genetics.

Type 1 papillary renal cell carcinoma in a patient with schwannomatosis: Mosaic versus loss of SMARCB1 expression in respectively schwannoma and renal tumor cells

F. Baas, P. Wesseling, A. V. D. van den Ouweland, 2016, Genes, chromosomes & cancer.

Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11.

B. D. de Vries, A. V. D. van den Ouweland, P. Heutink, 1994, Human molecular genetics.

Diagnosis of alpha-1-antitrypsin deficiency in bleeding disorder-related neonatal death

A. V. D. van den Ouweland, G. Kats-Ugurlu, A. Driessen, 2010, European Journal of Pediatrics.

Human c-fms proto-oncogene: comparative analysis with an abnormal allele

A. V. D. van den Ouweland, A. Roebroek, W. V. D. Van de Ven, 1985, Molecular and cellular biology.

The structure of the human c‐fes/fps proto‐oncogene.

A. V. D. van den Ouweland, A. Roebroek, J. Schalken, 1985, The EMBO journal.

Genome-wide association study identifies a novel variant in RAD51B associated with male breast cancer risk

A. Ashworth, S. Novaković, M. Zvelebil, 2012, Nature Genetics.

Clinicopathological and immunohistochemical findings in an autopsy case of tuberous sclerosis complex

E. Aronica, K. Boer, P. Crino, 2008, Neuropathology : official journal of the Japanese Society of Neuropathology.

A cystic fibrosis mutation associated with mild lung disease.

A. V. D. van den Ouweland, H. Scheffer, D. Halley, 1995, The New England journal of medicine.

Novel Histopathological Patterns in Cortical Tubers of Epilepsy Surgery Patients with Tuberous Sclerosis Complex

Pavel Krsek, Thomas Czech, Daniela Prayer, 2016, PloS one.

High rate of mosaicism in tuberous sclerosis complex.

S. Verhoef, A. V. D. van den Ouweland, D. Lindhout, 1999, American journal of human genetics.

Associations of breast cancer risk factors with tumor subtypes: a pooled analysis from the Breast Cancer Association Consortium studies.

Victoria L. Cafourek, S. Cross, M. Beckmann, 2011, Journal of the National Cancer Institute.

The complex relationships between cystic fibrosis and congenital bilateral absence of the vas deferens: clinical, electrophysiological and genetic data.

A. V. D. van den Ouweland, D. Halley, R. Weber, 1999, Human reproduction.

Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype.

A. V. D. van den Ouweland, D. Schindler, R. Wevers, 1996, Journal of medical genetics.

Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products.

R. Snell, A. V. D. van den Ouweland, P. Sluijs, 1998, Human molecular genetics.

Presence of markers for virulence in the unique short region or repeat region or both of pseudorabies hybrid viruses

W. Quint, A. V. D. van den Ouweland, A. Berns, 1985, Journal of virology.

Comparative analysis of the human and feline c-sis proto-oncogenes. Identification of 5' human c-sis coding sequences that are not homologous to the transforming gene of simian sarcoma virus.

A. V. D. van den Ouweland, J. Schalken, W. V. D. Van de Ven, 1985, Biochimica et biophysica acta.

Determination of the parent of origin in nine cases of prenatally detected chromosome aberrations found after intracytoplasmic sperm injection.

A. V. D. van den Ouweland, P. in’t Veld, S. Ramlakhan, 1997, Human reproduction.

Common germline polymorphisms associated with breast cancer-specific survival

W. Willett, S. Cross, M. Beckmann, 2015, Breast Cancer Research.

Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

Jack A. Taylor, W. Chung, S. Cross, 2019, bioRxiv.

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

Michael Jones, Peter Kraft, Arnaud Droit, 2017, Nature Genetics.

Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers

W. Chung, R. Nussbaum, F. Couch, 2017, Journal of the National Cancer Institute.

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast–ovarian cancer susceptibility locus

A. Whittemore, L. Kiemeney, S. Cross, 2016, Nature Communications.

Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

R. Nussbaum, D. Steinemann, V. Pankratz, 2014, Breast Cancer Research.

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

V. Pankratz, F. Couch, B. Bonanni, 2012, British Journal of Cancer.

Prospective prenatal investigations on potential uniparental disomy in cases of confined placental trisomy

A. V. D. van den Ouweland, D. Halley, D. Van Opstal, 1998, Prenatal diagnosis.

Structural homology between the human fur gene product and the subtilisin-like protease encoded by yeast KEX2.

A. V. D. van den Ouweland, W. V. D. Van de Ven, L. Dorssers, 1990, Nucleic acids research.

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

Rodney J Scott, John-Paul Plazzer, Finlay Macrae, 2013, Nature Genetics.

No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing

S. Cross, P. Fasching, C. Vachon, 2016, Journal of Medical Genetics.

Associations of common variants at 1p11.2 and 14q24.1 (RAD51L1) with breast cancer risk and heterogeneity by tumor subtype: findings from the Breast Cancer Association Consortium.

Michael Jones, Nazneen Rahman, Michael Bremer, 2011, Human molecular genetics.

Transcriptome ‐ wide association study of breast cancer risk by estrogen ‐ receptor status

Jack A. Taylor, W. Chung, S. Cross, 2020 .

Functional Categorization of BRCA1 Variants of Uncertain Clinical Significance in Homologous Recombination Repair Complementation Assays

S. Seneca, L. Wessels, M. Blok, 2020, Clinical Cancer Research.

Substantial evidence for the clinical significance of missense variant BRCA1 c.5309G>T p.(Gly1770Val)

A. Spurdle, C. Lázaro, A. V. D. van den Ouweland, 2018, Breast Cancer Research and Treatment.

Bmc Cancer

Leila Mohammadi, Peter Devilee, Hans C van Houwelingen, 2022 .

A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history

P. Devilee, M. Blok, S. Verhoef, 2009, Breast Cancer Research.

Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease

C. Ross, W. Wasserman, A. V. D. van den Ouweland, 2017, Orphanet Journal of Rare Diseases.

BRCA1 mutation analysis of 41 human breast cancer cell lines reveals three new deleterious mutants.

A. Hollestelle, M. Schutte, A. V. D. van den Ouweland, 2006, Cancer research.

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

Jane E. Carpenter, Jack A. Taylor, W. Chung, 2019, Nature Genetics.

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

Peter Devilee, Alfons Meindl, Lesley McGuffog, 2010, Breast Cancer Research.

Attitude towards pre-implantation genetic diagnosis for hereditary cancer

N. Aaronson, S. Verhoef, A. V. D. van den Ouweland, 2009, Familial Cancer.

BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk

F. Couch, J. Benítez, A. Spurdle, 2012, Journal of Medical Genetics.

Frequent loss of the AXIN1 locus but absence of AXIN1 gene mutations in adenocarcinomas of the gastro-oesophageal junction with nuclear β-catenin expression

A. V. D. van den Ouweland, W. Dinjens, M. van de Wetering, 2004, British Journal of Cancer.

Characterisation of six large deletions in TSC 2 identified using long range PCR suggests diverse mechanisms including Alu mediated recombination

A. V. D. van den Ouweland, D. Kwiatkowski, S. Jóźwiak, 2000 .

Renatal diagnosis of mosaic tetrasomy 12p/trisomy 12p by fluorescent in situ hybridization in amniotic fluid cells: A case report of pallister–killian syndrome

A. V. D. van den Ouweland, D. Van Opstal, H. Brandenburg, 1995, Prenatal diagnosis.

Somatic aberrations of mismatch repair genes as a cause of microsatellite‐unstable cancers

E. Kuipers, E. Steyerberg, A. V. D. van den Ouweland, 2014, The Journal of pathology.

Functional analysis of MSH2 unclassified variants found in suspected Lynch syndrome patients reveals pathogenicity due to attenuated mismatch repair

S. Verhoef, A. V. D. van den Ouweland, A. Wagner, 2014, Journal of Medical Genetics.

Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers.

Dieter Niederacher, Ute Hamann, Alfons Meindl, 2008, American journal of human genetics.

Malignant pancreatic tumour within the spectrum of tuberous sclerosis complex in childhood

S. Verhoef, A. V. D. van den Ouweland, D. Lindhout, 1999, European Journal of Pediatrics.

Severe plexiform facial neurofibromatosis, type 1 with underdeveloped eyes and a novel NF1 mutation

A. V. D. van den Ouweland, P. Kantaputra, C. Limwongse, 2012, American journal of medical genetics. Part A.

Bmc Medical Genetics Identification of a Region Required for Tsc1 Stability by Functional Analysis of Tsc1 Missense Mutations Found in Individuals with Tuberous Sclerosis Complex

R. Ekong, S. Povey, A. V. D. van den Ouweland, 2022 .

FGFs, their receptors, and human limb malformations: clinical and molecular correlations.

A. V. D. van den Ouweland, A. Wilkie, B. Hamel, 2002, American journal of medical genetics.

A unique case of two somatic APC mutations in an early onset cribriform-morular variant of papillary thyroid carcinoma and overview of the literature

A. V. D. van den Ouweland, H. Morreau, T. van Wezel, 2019, Familial Cancer.

Leukemia-associated NF1 inactivation in patients with pediatric T-ALL and AML lacking evidence for neurofibromatosis.

R. Pieters, A. V. D. van den Ouweland, D. Reinhardt, 2008, Blood.

The Han:SPRD rat is not a genetic model of human autosomal dominant polycystic kidney disease type 1

A. V. D. van den Ouweland, M. Goedbloed, T. Luider, 1997, Laboratory animals.

Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study Group.

B. D. de Vries, A. V. D. van den Ouweland, B. Oostra, 1998, American journal of human genetics.

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

Jane E. Carpenter, Jack A. Taylor, W. Chung, 2019, Nature Communications.

Functional characterisation of the TSC1–TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex

A. V. D. van den Ouweland, M. Goedbloed, M. Nellist, 2008, BMC Medical Genetics.

Breast cancer after prophylactic bilateral mastectomy in women with a BRCA1 or BRCA2 mutation.

J. Klijn, H. Meijers-Heijboer, C. Seynaeve, 2001, The New England journal of medicine.

Psychological impact of receiving a BRCA1/BRCA2 test result.

J. Klijn, A. V. D. van den Ouweland, A. Wagner, 2001, American journal of medical genetics.

Survival in hereditary breast cancer associated with germline mutations of BRCA2.

J. Klijn, P. Devilee, C. Seynaeve, 1999, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Legius Syndrome in Fourteen Families

A. V. D. van den Ouweland, A. Yoshimura, Eline Beert, 2011, Human mutation.

Mental status of females with an FMR1 gene full mutation.

B. D. de Vries, A. V. D. van den Ouweland, B. Oostra, 1996, American journal of human genetics.

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

Michael Jones, Nazneen Rahman, Daniel J. Park, 2012, Nature Genetics.

Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers: an international cohort study

R. Eeles, J. Hopper, D. Easton, 2021, American journal of obstetrics and gynecology.

Recurrence and variability of germline EPCAM deletions in Lynch syndrome

Julie O. Culver, M. Kloor, P. Hutter, 2011, Human mutation.

Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia

R. Pfundt, J. Hurst, A. V. D. van den Ouweland, 2017, European Journal of Human Genetics.

Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes

A. V. D. van den Ouweland, S. Hovius, A. de Klein, 2020, Journal of Medical Genetics.

Genetic analysis of von Hippel‐Lindau disease

A. V. D. van den Ouweland, E. Voest, R. Giles, 2010, Human mutation.

A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Jane E. Carpenter, Jack A. Taylor, W. Chung, 2021, Nature Communications.

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

S. Cross, M. Beckmann, P. Fasching, 2022 .

Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis.

M. Nöthen, H. Smeets, A. V. D. van den Ouweland, 1998, American journal of human genetics.

No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.

Sandra L. Halverson, A. Whittemore, L. Kiemeney, 2016, Gynecologic oncology.

Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element

Jack A. Taylor, S. Cross, M. Beckmann, 2021, American journal of human genetics.

Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12‐Related Craniosynostosis

S. Knight, A. V. D. van den Ouweland, S. Twigg, 2016, Human mutation.

Deletion of exons 1a-2 of BRCA1: a rather frequent pathogenic abnormality.

P. Nederlof, A. V. D. van den Ouweland, W. Dinjens, 2009, Genetic testing and molecular biomarkers.

The BRCA2 c.68‐7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity

S. Cross, M. Beckmann, P. Fasching, 2018, Human mutation.

The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant

W. Chung, F. Couch, O. Olopade, 2021, Genetics in Medicine.

TP53 germline mutation testing in early-onset breast cancer: findings from a nationwide cohort

M. Blok, C. V. van Asperen, A. V. D. van den Ouweland, 2019, Familial Cancer.

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

Michael Jones, Julian Peto, Thomas Brüning, 2016, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Fine‐scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer

S. Cross, M. Beckmann, P. Fasching, 2016, International journal of cancer.

Recurrent HOXB13 mutations in the Dutch population do not associate with increased breast cancer risk

J. Foekens, A. Hollestelle, Wendy J. C. Prager-van der Smissen, 2016, Scientific Reports.

Rare BRCA1 haplotypes including 3’UTR SNPs associated with breast cancer risk

F. Slack, K. Kidd, A. Hollestelle, 2011, Cell cycle.

The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype.

J. Klijn, A. Hollestelle, M. Schutte, 2003, American journal of human genetics.

Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus

Jane E. Carpenter, A. Whittemore, S. Cross, 2016, Breast Cancer Research.

The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium

A. Spurdle, Å. Borg, P. Devilee, 2017, Journal of Medical Genetics.

An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

W. Chung, R. Nussbaum, D. Steinemann, 2015, Breast Cancer Research.

Assessing Associations between the AURKA-HMMR-TPX2-TUBG1 Functional Module and Breast Cancer Risk in BRCA1/2 Mutation Carriers

W. Chung, R. Nussbaum, D. Steinemann, 2015, PloS one.

Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers.

F. Couch, T. Rebbeck, J. Benítez, 2011, Human molecular genetics.

DNA testing for fragile X syndrome: implications for parents and family.

B. D. de Vries, A. V. D. van den Ouweland, D. Halley, 1997, Journal of medical genetics.

Identification of Regions Critical for the Integrity of the TSC1-TSC2-TBC1D7 Complex

A. Nakashima, A. V. D. van den Ouweland, U. Kikkawa, 2014, PloS one.

Variable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X family.

B. D. de Vries, A. V. D. van den Ouweland, B. Oostra, 1996, Journal of medical genetics.

The fragile X phenotype in a mosaic male with a deletion showing expression of the FMR1 protein in 28% of the cells.

B. D. de Vries, A. V. D. van den Ouweland, B. Oostra, 1996, American journal of medical genetics.

Rapid antibody test for diagnosing fragile X syndrome: a validation of the technique

Erik Sistermans, B. D. de Vries, A. V. D. van den Ouweland, 1997, Human Genetics.

Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations

A. V. D. van den Ouweland, A. de Klein, F. Jansen, 2015, BMC Medical Genetics.

[From gene to disease; neurofibromatosis type 1].

A. V. D. van den Ouweland, M. Cnossen, M. Niermeijer, 2001, Nederlands tijdschrift voor geneeskunde.

Body mass index and breast cancer survival: a Mendelian randomization analysis

Jaana M. Hartikainen, W. Willett, S. Cross, 2017, International journal of epidemiology.

Fine-Scale Mapping of the 4q24 Locus Identifies Two Independent Loci Associated with Breast Cancer Risk

S. Cross, M. Beckmann, P. Fasching, 2015, Cancer Epidemiology, Biomarkers & Prevention.

Prenatal diagnosis of the fragile X syndrome: loss of mutation owing to a double recombinant or gene conversion event at the FMR1 locus.

S. Warren, A. V. D. van den Ouweland, B. Oostra, 1997, Journal of medical genetics.

Cognitive impairment in tuberous sclerosis complex is a multifactorial condition

A. Algra, A. Algra, A. V. D. van den Ouweland, 2008, Neurology.

Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines

A. V. D. van den Ouweland, N. Naus, M. Wevers, 2019, Cancers.

Identification of Familial Adenomatous Polyposis carriers among children with desmoid tumours.

A. V. D. van den Ouweland, A. Wagner, W. Dinjens, 2012, European journal of cancer.

DNA diagnosis of the fragile X syndrome in a series of 236 mentally retarded subjects and evidence for a reversal of mutation in the FMR-1 gene.

B. D. de Vries, A. V. D. van den Ouweland, B. Oostra, 1994, American journal of medical genetics.

Overlapping neurologic and cognitive phenotypes in patients with TSC1 or TSC2 mutations

A. Algra, A. V. D. van den Ouweland, K. Vincken, 2008, Neurology.

Loss of mutation at the FMR1 locus through multiple exchanges between maternal X chromosomes.

D. Nelson, S. Warren, A. V. D. van den Ouweland, 1994, Human molecular genetics.

Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA)

G Rennert, N Weerasooriya, K Offit, 2009, British Journal of Cancer.

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

Jeffery M. Meyer, Jack A. Taylor, A. Whittemore, 2018, International journal of epidemiology.

Validation of linkage-based DNA-diagnosis of fragile X gene carriers with the CGG repeat probe.

B. V. van Oost, A. V. D. van den Ouweland, A. Smits, 1992, American journal of medical genetics.

Are ATM Mutations 7271T→G and IVS10-6T→G Really High-Risk Breast Cancer-Susceptibility Alleles?

J. Houwing-Duistermaat, J. Klijn, A. Broeks, 2004, Cancer Research.

Body mass index and breast cancer survival: a Mendelian randomization analysis

W. Willett, S. Cross, P. Fasching, 2017, International Journal of Epidemiology.

Phosphorylation and binding partner analysis of the TSC1-TSC2 complex.

A. V. D. van den Ouweland, T. Luider, M. Nellist, 2005, Biochemical and biophysical research communications.

rs2735383, located at a microRNA binding site in the 3’UTR of NBS1, is not associated with breast cancer risk

S. Cross, M. Beckmann, P. Fasching, 2016, Scientific Reports.

Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium

Jaana M. Hartikainen, Kristen S Purrington, Ali Amin Al Olama, 2014, Human molecular genetics.

2q36.3 is associated with prognosis for oestrogen receptor-negative breast cancer patients treated with chemotherapy

Matthias W. Beckmann, Peter A. Fasching, Nur Aishah Mohd Taib, 2014, Nature Communications.

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

A. V. D. van den Ouweland, N. Nagy, M. Széll, 2016, BMC Genetics.

Linkage and LOH studies in 19 cylindromatosis families show no evidence of genetic heterogeneity and refine the CYLD locus on chromosome 16q12–q13

S. Seal, M. Stratton, R. Siebert, 2000, Human Genetics.

Characterization of the Cytosolic Tuberin-Hamartin Complex

A. V. D. van den Ouweland, M. Goedbloed, M. V. van Slegtenhorst, 1999, The Journal of Biological Chemistry.

Use of genetic testing and prophylactic mastectomy and oophorectomy in women with breast or ovarian cancer from families with a BRCA1 or BRCA2 mutation.

J. Klijn, H. Meijers-Heijboer, C. Seynaeve, 2003, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Characteristics of a multicopy gene family predominantly consisting of processed pseudogenes.

K. Deichmann, A. V. D. van den Ouweland, W. V. D. Van de Ven, 1989, Nucleic acids research.

Immunological detection of polycystin-1 in human kidney

A. V. D. van den Ouweland, M. Goedbloed, J. Nauta, 2000, Histochemistry and Cell Biology.

Interdependence of clinical factors predicting cognition in children with tuberous sclerosis complex

Hester F. Lingsma, A. V. D. van den Ouweland, H. Moll, 2016, Journal of Neurology.

Application of recombinant DNA technology in epitope mapping and targeting. Development and characterization of a panel of monoclonal antibodies against the 7B2 neuroendocrine protein.

A. V. D. van den Ouweland, W. V. D. Van de Ven, H. L. V. van Duijnhoven, 1991, Journal of immunological methods.

Further delineation of the GDF6 related multiple synostoses syndrome

A. V. D. van den Ouweland, N. Knoers, R. Nievelstein, 2018, American journal of medical genetics. Part A.

Trigonocephaly in Muenke syndrome

A. V. D. van den Ouweland, Jeannette Hoogeboom, J. J. van der Meulen, 2006, American journal of medical genetics. Part A.

Saethre–Chotzen syndrome: long‐term outcome of a syndrome‐specific management protocol

S. Loudon, A. V. D. van den Ouweland, I. Mathijssen, 2020, Developmental medicine and child neurology.

Development and characterization of a panel of monoclonal antibodies against the novel subtilisin-like proprotein processing enzyme furin.

A. V. D. van den Ouweland, A. Roebroek, W. V. D. Van de Ven, 1992, Hybridoma.

Strategy for reliable prenatal detection of normal male carriers of the fragile X syndrome.

A. V. D. van den Ouweland, D. Halley, B. Oostra, 1994, American journal of medical genetics.

Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome

A. V. D. van den Ouweland, A. Wilkie, J. Rankin, 2014, BMC Medical Genetics.

[From gene to disease; TSC1 and TSC2 genes and tuberous sclerosis complex].

S. Verhoef, A. V. D. van den Ouweland, D. Lindhout, 2001, Nederlands tijdschrift voor geneeskunde.

Colocalization of the gene for nephrogenic diabetes insipidus (DIR) and the vasopressin type 2 receptor gene (AVPR2) in the Xq28 region.

M. Rocchi, F. Fahrenholz, S. Warren, 1992, Genomics.

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

J. Foekens, A. Sieuwerts, M. Smid, 2015, Molecular oncology.

Patient with a neurofibromatosis type 1 mutation but a clinical diagnosis of Noonan syndrome

A. V. D. van den Ouweland, H. Yntema, I. van der Burgt, 2012, Clinical dysmorphology.

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

Christiana Kartsonaki, Mads Thomassen, Julian Peto, 2010, Nature Genetics.

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

Jaana M. Hartikainen, A. Hofman, A. Uitterlinden, 2013, Nature Genetics.

An evaluation of the integration of non-traditional learning tools into a community based breast and cervical cancer education program: The witness project of Buffalo

Takuji Tanaka, H. V. van Houwelingen, P. Devilee, 2003, BMC Cancer.

Screening and Diagnosis for the Fragile X Syndrome among the Mentally Retarded: An Epidemiological and Psychological Survey

Ben A. Oostra, B. D. de Vries, A. V. D. van den Ouweland, 1997 .

Identification of the familial cylindromatosis tumour-suppressor gene

A. Ashworth, S. Seal, M. Stratton, 2000, Nature Genetics.

Fanconi anemia gene mutations are not involved in sporadic Wilms tumor

M. Kool, Q. Waisfisz, H. Meijers-Heijboer, 2010, Pediatric blood & cancer.

Uniparental disomy with and without confined placental mosaicism: a model for trisomic zygote rescue

S. Verhoef, A. V. D. van den Ouweland, D. Halley, 1998, Prenatal diagnosis.

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

M. Look, A. Hollestelle, J. Martens, 2011, Breast Cancer Research and Treatment.

A. V. D. van den Ouweland, N. Nagy, M. Széll, 2016, BMC Genetics.

Structure and nucleotide sequence of the 5' region of the human and feline c-sis proto-oncogenes.

A. V. D. van den Ouweland, A. Roebroek, J. Schalken, 1986, Nucleic acids research.

Distant disease-free interval, site of first relapse and post-relapse survival in BRCA1- and BRCA2-associated compared to sporadic breast cancer patients

Caroline Seynaeve, Mieke Kriege, J. Klijn, 2008, Breast Cancer Research and Treatment.

Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis

A. V. D. van den Ouweland, A. Wilkie, A. V. D. Ouweland, 2004, Human Genetics.

Screening for the fragile X syndrome among the mentally retarded: a clinical study

B. D. de Vries, A. V. D. van den Ouweland, H. Duivenvoorden, 1999, Journal of medical genetics.

Disruption of tuftelin 1, a desmosome associated protein, causes skin fragility, woolly hair and palmoplantar keratoderma.

B. Giepmans, J. Hublin, A. V. D. van den Ouweland, 2023, The Journal of investigative dermatology.

No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.

Sandra L. Halverson, A. Whittemore, L. Kiemeney, 2016, Gynecologic oncology.

Bmc Medical Genetics Identification of a Region Required for Tsc1 Stability by Functional Analysis of Tsc1 Missense Mutations Found in Individuals with Tuberous Sclerosis Complex

R. Ekong, S. Povey, A. V. D. van den Ouweland, 2009 .

Attitude towards pre-implantation genetic diagnosis for hereditary cancer

N. Aaronson, S. Verhoef, A. V. D. van den Ouweland, 2009, Familial Cancer.

No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing

S. Cross, P. Fasching, C. Vachon, 2016, Journal of Medical Genetics.

Leukemia-associated NF1 inactivation in patients with pediatric T-ALL and AML lacking evidence for neurofibromatosis.

R. Pieters, A. V. D. van den Ouweland, D. Reinhardt, 2008, Blood.

Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex

R. Ekong, S. Povey, A. V. D. van den Ouweland, 2012, Human Mutation.

Transcriptome-wide association study of breast cancer risk by estrogen-receptor status

Jack A. Taylor, S. Cross, C. Vachon, 2020, Genetic epidemiology.

Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1

A. V. D. van den Ouweland, P. Elfferich, R. van Minkelen, 2015, BMC Medical Genetics.