Richarda M de Voer
Overview
Explore the profile of Richarda M de Voer including associated specialties, affiliations and a list of published articles.
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Articles
54
Citations
992
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Recent Articles
1.
Hinic S, Mensenkamp A, Schuurs-Hoeijmakers J, Brugnoletti F, Vreede L, van Veen E, et al.
Eur J Hum Genet
. 2025 Feb;
PMID: 39979679
The development of multiple primary tumors is one of the hallmarks of hereditary cancer. The phenotypic presentation of individuals with multiple primary tumors is often heterogeneous, which hampers the establishment...
2.
Laurie S, Steyaert W, de Boer E, Polavarapu K, Schuermans N, Sommer A, et al.
Nat Med
. 2025 Jan;
31(2):478-489.
PMID: 39825153
Genetic diagnosis of rare diseases requires accurate identification and interpretation of genomic variants. Clinical and molecular scientists from 37 expert centers across Europe created the Solve-Rare Diseases Consortium (Solve-RD) resource,...
3.
Elze L, van der Post R, Vos J, Mensenkamp A, Pamidimarri Naga S, Hampstead J, et al.
J Natl Cancer Inst
. 2024 Jul;
116(12):1904-1913.
PMID: 38960732
Background: Individuals with germline pathogenic variants in BRCA1 or BRCA2 are at a high risk of breast and ovarian carcinomas with BRCA1/2 deficiency and homologous recombination deficiency that can be...
4.
Hinic S, van der Post R, Vreede L, Schuurs-Hoeijmakers J, Koene S, Jansen E, et al.
JNCI Cancer Spectr
. 2024 Jun;
8(4).
PMID: 38848470
CHEK2 is considered to be involved in homologous recombination repair (HRR). Individuals who have germline pathogenic variants (gPVs) in CHEK2 are at increased risk to develop breast cancer and likely...
5.
Hinic S, Cybulski C, van der Post R, Vos J, Schuurs-Hoeijmakers J, Brugnoletti F, et al.
Genet Med
. 2024 Feb;
26(5):101101.
PMID: 38362852
Purpose: Females with biallelic CHEK2 germline pathogenic variants (gPVs) more often develop multiple breast cancers than individuals with monoallelic CHEK2 gPVs. This study is aimed at expanding the knowledge on...
6.
Wijngaard R, Demidov G, OGorman L, Corominas-Galbany J, Yaldiz B, Steyaert W, et al.
Eur J Hum Genet
. 2023 Nov;
32(2):248.
PMID: 37973950
No abstract available.
7.
Wijngaard R, Demidov G, OGorman L, Corominas-Galbany J, Yaldiz B, Steyaert W, et al.
Eur J Hum Genet
. 2023 Oct;
32(2):200-208.
PMID: 37853102
Mobile element insertions (MEIs) are a known cause of genetic disease but have been underexplored due to technical limitations of genetic testing methods. Various bioinformatic tools have been developed to...
8.
Quintana I, Terradas M, Mur P, Te Paske I, Peters S, Spier I, et al.
Genes Dis
. 2023 Jul;
10(3):753-757.
PMID: 37396538
No abstract available.
9.
Sao Jose C, Garcia-Pelaez J, Ferreira M, Arrieta O, Andre A, Martins N, et al.
Gastric Cancer
. 2023 May;
26(5):653-666.
PMID: 37249750
Background: Germline CDH1 pathogenic or likely pathogenic variants cause hereditary diffuse gastric cancer (HDGC). Once a genetic cause is identified, stomachs' and breasts' surveillance and/or prophylactic surgery is offered to...
10.
Elze L, van der Post R, Vos J, Mensenkamp A, de Hullu M, Nagtegaal I, et al.
J Natl Cancer Inst
. 2023 Apr;
115(7):853-860.
PMID: 37018159
Background: Individuals with Lynch syndrome are at increased hereditary risk of colorectal and endometrial carcinomas with microsatellite instability (MSI-H) and mismatch repair-deficiency (dMMR), which make these tumors vulnerable to therapy...