Manon Suerink
Overview
Explore the profile of Manon Suerink including associated specialties, affiliations and a list of published articles.
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Articles
38
Citations
368
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Recent Articles
1.
Colas C, Guerrini-Rousseau L, Suerink M, Gallon R, Kratz C, Ayuso E, et al.
Eur J Hum Genet
. 2024 Oct;
32(12):1526-1541.
PMID: 39420201
Constitutional mismatch repair deficiency (CMMRD), first described 25 years ago, confers an extremely high and lifelong cancer risk, including haematologic, brain, and gastrointestinal tract malignancies, and is associated with several...
2.
Broeren E, Stover S, Bennett K, Giordano J, Galloway S, Lauzon J, et al.
Prenat Diagn
. 2024 Sep;
44(13):1663-1670.
PMID: 39313411
Background: Chondrodysplasia punctata 1 (CDPX1) is an X-linked recessive disorder of cartilage and bone development characterized by stippling on the cartilage and bone, flattened nasal bridge, and brachydactyly, or short...
3.
Layo-Carris D, Lubin E, Sangree A, Clark K, Durham E, Gonzalez E, et al.
Eur J Hum Genet
. 2024 Jul;
32(8):1032.
PMID: 39060653
No abstract available.
4.
van der Werf-t Lam A, Rodriguez-Girondo M, Villasmil M, Tops C, van Hest L, Gille H, et al.
Genes Chromosomes Cancer
. 2024 May;
63(5):e23237.
PMID: 38722212
Background: This study investigates the potential influence of genotype and parent-of-origin effects (POE) on the clinical manifestations of Lynch syndrome (LS) within families carrying (likely) disease-causing MSH6 germline variants. Patients...
5.
Layo-Carris D, Lubin E, Sangree A, Clark K, Durham E, Gonzalez E, et al.
Eur J Hum Genet
. 2024 Apr;
32(8):928-937.
PMID: 38678163
Bryant-Li-Bhoj syndrome (BLBS), which became OMIM-classified in 2022 (OMIM: 619720, 619721), is caused by germline variants in the two genes that encode histone H3.3 (H3-3A/H3F3A and H3-3B/H3F3B) [1-4]. This syndrome...
6.
Paulet A, Bennett-Ness C, Ageorges F, Trost D, Green A, Goudie D, et al.
Eur J Hum Genet
. 2024 Apr;
32(9):1191.
PMID: 38565641
No abstract available.
7.
Paulet A, Bennett-Ness C, Ageorges F, Trost D, Green A, Goudie D, et al.
Eur J Hum Genet
. 2024 Feb;
32(9):1144-1149.
PMID: 38355961
Translation elongation factor eEF1A2 constitutes the alpha subunit of the elongation factor-1 complex, responsible for the enzymatic binding of aminoacyl-tRNA to the ribosome. Since 2012, 21 pathogenic missense variants affecting...
8.
de Koning M, Pimienta Ramirez P, Haak M, Han X, Ruiterkamp-Versteeg M, de Leeuw N, et al.
J Med Genet
. 2024 Jan;
61(6):549-552.
PMID: 38272662
Fetal hydrops as detected by prenatal ultrasound usually carries a poor prognosis depending on the underlying aetiology. We describe the prenatal and postnatal clinical course of two unrelated female probands...
9.
Terlouw D, Boot A, Ducarmon Q, Nooij S, Suerink M, van Leerdam M, et al.
BMC Cancer
. 2024 Jan;
24(1):104.
PMID: 38238650
Background: Colibactin, a genotoxin produced by polyketide synthase harboring (pks) bacteria, induces double-strand breaks and chromosome aberrations. Consequently, enrichment of pksEscherichia coli in colorectal cancer and polyposis suggests a possible...
10.
van Slobbe M, van Haeringen A, Vissers L, Bijlsma E, Rutten J, Suerink M, et al.
Eur J Pediatr
. 2023 Oct;
183(1):345-355.
PMID: 37889289
Conclusions: Our results show that WES reanalysis in patients with NDD in standard patient care leads to a substantial increase in genetic diagnoses. In the majority of newly diagnosed patients,...