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Marijke R. Wevers

Utrecht University

14

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162

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SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

2021 American Journal of Human Genetics
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TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.

2021 American Journal of Human Genetics
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Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype.

2021 Genetics in Medicine
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Psychological distress in newly diagnosed breast cancer patients: an observational study comparing those at high risk of hereditary cancer with those of unknown risk

2020
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Long-term morbidity and health after early menopause due to oophorectomy in women at increased risk of ovarian cancer: rationale and design of the HARMOny study, a nationwide cross-sectional study with prospective follow-up. (Preprint)

2020 JMIR Research Protocols
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'We don't know for sure': discussion of uncertainty concerning multigene panel testing during initial cancer genetic consultations.

2019 Familial Cancer
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A novel mutation in L1CAM causes a mild form of L1 syndrome: a case report

2017 Clinical Case Reports
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Rapid genetic counseling and testing in newly diagnosed breast cancer : Patients’ and health professionals’ attitudes, experiences, and evaluation of effects on treatment decision making

2017 Journal of Surgical Oncology
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Does rapid genetic counseling and testing in newly diagnosed breast cancer patients cause additional psychosocial distress? results from a randomized clinical trial

2016 Genetics in Medicine
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Timing of risk reducing mastectomy in breast cancer patients carrying a BRCA1/2 mutation : retrospective data from the Dutch HEBON study

2015 Familial Cancer
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