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CDC73-Related Disorders: Clinical Manifestations and Case Detection in Primary Hyperparathyroidism

The journal of clinical endocrinology and metabolism, 2017-12, Vol.102 (12), p.4534-4540

2017

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Support of the ‘fallopian tube hypothesis’ in a prospective series of risk-reducing salpingo-oophorectomy specimens

European journal of cancer (1990), 2013-01, Vol.49 (1), p.132-141

2013

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BRCA1-Associated Breast Cancers Present Differently From BRCA2-Associated and Familial Cases: Long-Term Follow-Up of the Dutch MRISC Screening Study

Journal of clinical oncology, 2010-12, Vol.28 (36), p.5265-5273

2010

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Multiple tumors due to mosaic genome‐wide paternal uniparental disomy

Pediatric blood & cancer, 2019-06, Vol.66 (6), p.e27715-n/a

2019

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Differences in Natural History between Breast Cancers in BRCA1 and BRCA2 Mutation Carriers and Effects of MRI Screening-MRISC, MARIBS, and Canadian Studies Combined

Cancer epidemiology, biomarkers & prevention, 2012-09, Vol.21 (9), p.1458-1468

2012

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Elevated Bone Turnover Markers after Risk-Reducing Salpingo-Oophorectomy in Women at Increased Risk for Breast and Ovarian Cancer

PloS one, 2017-01, Vol.12 (1), p.e0169673-e0169673

2017

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Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2

Human mutation, 2010-10, Vol.31 (10), p.1125-1133

2010

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"It Is What It Is"

Journal of clinical oncology, 2016-04, Vol.34 (11), p.1278-1280

Oosterwijk, Jan C

2016

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Stopping ovarian cancer screening in BRCA1/2 mutation carriers: Effects on risk management decisions & outcome of risk-reducing salpingo-oophorectomy specimens

Maturitas, 2015-03, Vol.80 (3), p.318-322

2015

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Novel Types of Mutation Responsible for the Dermatosparactic Type of Ehlers–Danlos Syndrome (Type VIIC) and Common Polymorphisms in the ADAMTS2 Gene

Journal of investigative dermatology, 2004-10, Vol.123 (4), p.656-663

2004

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A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example

BMC cancer, 2009-06, Vol.9 (1), p.211-211, Article 211

2009

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Survival benefit in women with BRCA1 mutation or familial risk in the MRI screening study (MRISC)

International journal of cancer, 2015-10, Vol.137 (7), p.1729-1738

2015

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Addition of a 161-SNP polygenic risk score to family history-based risk prediction: impact on clinical management in non- BRCA1/2 breast cancer families

Journal of medical genetics, 2019-09, Vol.56 (9), p.581-589

2019

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PRDM10 directs FLCN expression in a novel disorder overlapping with Birt–Hogg–Dubé syndrome and familial lipomatosis

Human molecular genetics, 2023-03, Vol.32 (7), p.1223-1235

2023

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Efficacy of MRI and Mammography for Breast-Cancer Screening in Women with a Familial or Genetic Predisposition

The New England journal of medicine, 2004-07, Vol.351 (5), p.427-437

2004

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Breast density as indicator for the use of mammography or MRI to screen women with familial risk for breast cancer (FaMRIsc): a multicentre randomized controlled trial

BMC cancer, 2012-10, Vol.12 (1), p.440-440, Article 440

2012

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Genetic control of tumor development in malformation syndromes

American journal of medical genetics. Part A, 2021-02, Vol.185 (2), p.324-335

2021

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Penetrance of breast cancer, ovarian cancer and contralateral breast cancer in BRCA1 and BRCA2 families: high cancer incidence at older age

Breast cancer research and treatment, 2010-12, Vol.124 (3), p.643-651

2010

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Genotype-phenotype correlations for pancreatic cancer risk in Dutch melanoma families with pathogenic CDKN2A variants

Journal of medical genetics, 2021-04, Vol.58 (4), p.264-269

2021

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Validation of the BOADICEA model in a prospective cohort of BRCA1/2 pathogenic variant carriers

Journal of medical genetics, 2024-08, Vol.61 (8), p.803-809

2024

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The effectiveness of a graphical presentation in addition to a frequency format in the context of familial breast cancer risk communication: a multicenter controlled trial

BMC medical informatics and decision making, 2013-04, Vol.13 (1), p.55-55, Article 55

2013

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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

Journal of medical genetics, 2018-01, Vol.55 (1), p.15-20

2018

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Serum AMH levels in healthy women from BRCA1/2 mutated families: are they reduced?

Human reproduction (Oxford), 2016-11, Vol.31 (11), p.2651-2659

2016

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Bias Correction Methods Explain Much of the Variation Seen in Breast Cancer Risks of BRCA1/2 Mutation Carriers

Journal of clinical oncology, 2015-08, Vol.33 (23), p.2553-2562

2015

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CDC73-Related Disorders: Clinical Manifestations and Case Detection in Primary Hyperparathyroidism

Support of the ‘fallopian tube hypothesis’ in a prospective series of risk-reducing salpingo-oophorectomy specimens

BRCA1-Associated Breast Cancers Present Differently From BRCA2-Associated and Familial Cases: Long-Term Follow-Up of the Dutch MRISC Screening Study

Multiple tumors due to mosaic genome‐wide paternal uniparental disomy

Differences in Natural History between Breast Cancers in BRCA1 and BRCA2 Mutation Carriers and Effects of MRI Screening-MRISC, MARIBS, and Canadian Studies Combined

Elevated Bone Turnover Markers after Risk-Reducing Salpingo-Oophorectomy in Women at Increased Risk for Breast and Ovarian Cancer

Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2

"It Is What It Is"

Stopping ovarian cancer screening in BRCA1/2 mutation carriers: Effects on risk management decisions & outcome of risk-reducing salpingo-oophorectomy specimens

MRI versus mammography for breast cancer screening in women with familial risk (FaMRIsc): a multicentre, randomised, controlled trial

Novel Types of Mutation Responsible for the Dermatosparactic Type of Ehlers–Danlos Syndrome (Type VIIC) and Common Polymorphisms in the ADAMTS2 Gene

A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example

Survival benefit in women with BRCA1 mutation or familial risk in the MRI screening study (MRISC)

Addition of a 161-SNP polygenic risk score to family history-based risk prediction: impact on clinical management in non- BRCA1/2 breast cancer families

PRDM10 directs FLCN expression in a novel disorder overlapping with Birt–Hogg–Dubé syndrome and familial lipomatosis

Efficacy of MRI and Mammography for Breast-Cancer Screening in Women with a Familial or Genetic Predisposition

Breast density as indicator for the use of mammography or MRI to screen women with familial risk for breast cancer (FaMRIsc): a multicentre randomized controlled trial

Genetic control of tumor development in malformation syndromes

Penetrance of breast cancer, ovarian cancer and contralateral breast cancer in BRCA1 and BRCA2 families: high cancer incidence at older age

Genotype-phenotype correlations for pancreatic cancer risk in Dutch melanoma families with pathogenic CDKN2A variants

Validation of the BOADICEA model in a prospective cohort of BRCA1/2 pathogenic variant carriers

The effectiveness of a graphical presentation in addition to a frequency format in the context of familial breast cancer risk communication: a multicenter controlled trial

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

Serum AMH levels in healthy women from BRCA1/2 mutated families: are they reduced?

Bias Correction Methods Explain Much of the Variation Seen in Breast Cancer Risks of BRCA1/2 Mutation Carriers

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