prof. dr. ir. Kathleen Claes

Sofia Maria Lider Burciulescu, Caren Randon (UGent) , Fréderic Duprez (UGent) , Wouter Huvenne (UGent) , David Creytens (UGent) , Kathleen Claes (UGent) , Robin de Putter (UGent) , Guy T'Sjoen (UGent) , Corin Badiu and Bruno Lapauw (UGent)

(2023) ENDOCRINE ONCOLOGY. 3(1).

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Miscellaneous
open access

Atm deficient zebrafish model reveals conservation of the tumour suppressor function and a role in fertility

Jeroen Vierstraete, Charlotte Fieuws (UGent) , David Creytens (UGent) , Jo Van Dorpe (UGent) , Andy Willaert (UGent) , Anne Vral (UGent) and Kathleen Claes (UGent)

(2023) GENES & DISEASES. 10(2). p.381-384

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Belgian guidelines for the frequency of participation of the Medical Centers of Human Genetics to external quality assessment schemes for analyses focused on rare diseases

Josephine Lantoine, Anne Brysse, Vinciane Dideberg, Kathleen Claes (UGent) , Sofie Symoens (UGent) , Wim Coucke, Valerie Benoit, Sonia Rombout, Martine De Rycke, Sara Seneca, et al.

(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 30(Supplement 1). p.472-472

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Journal Article
A1
open access

Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants : application of a points-based ACMG/AMP approach

M Thomassen, RLS Mesman, TVO Hansen, M Menendez, M Rossing, A Esteban-Sánchez, E Tudini, T Törngren, MT Parsons, IS Pedersen, et al.

(2022) HUMAN MUTATION. 43(12). p.1921-1944

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Journal Article
A1
open access

Noncoding aberrations in mismatch repair genes underlie a substantial part of the missing heritability in Lynch syndrome

Iris B.A.W. Te Paske, Arjen R. Mensenkamp, Kornelia Neveling, Nicoline Hoogerbrugge, Marjolijn J.L. Ligtenberg, Richarda M. De Voer, Stéphanie Baert-Desurmont, Kathleen Claes (UGent) , Kim De Leeneer (UGent) , Lisa Elze, et al.

(2022) GASTROENTEROLOGY. 163(6). p.1691-1694.e7

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Journal Article
A1
open access

Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort

Linda A. J. Hendricks, Nicoline Hoogerbrugge, Hanka Venselaar, Stefan Aretz, Isabel Spier, Eric Legius, Hilde Brems, Robin de Putter (UGent) , Kathleen Claes (UGent) , Gareth Evans, et al.

(2022) EUROPEAN JOURNAL OF MEDICAL GENETICS. 65(12).

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Journal Article
A1
open access

PRECISION : the Belgian molecular profiling program of metastatic cancer for clinical decision and treatment assignment

J. Thouvenin, C. Van Marcke, L. Decoster, G. Raicevic, K. Punie, M. Vandenbulcke, R. Salgado, E. Van Valckenborgh, B. Maes, S. Joris, et al.

(2022) ESMO OPEN. 7(4).

Academic Bibliography

prof. dr. ir. Kathleen Claes

ENIGMA CHEK2gether Project : a comprehensive study identifies functionally impaired CHEK2 germline missense variants associated with increased breast cancer risk

Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2

Implementation of dihydropyrimidine dehydrogenase deficiency testing in Europe

Clinical presentation of sporadic and hereditary pheochromocytoma/paraganglioma

Atm deficient zebrafish model reveals conservation of the tumour suppressor function and a role in fertility

Belgian guidelines for the frequency of participation of the Medical Centers of Human Genetics to external quality assessment schemes for analyses focused on rare diseases

Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants : application of a points-based ACMG/AMP approach

Noncoding aberrations in mismatch repair genes underlie a substantial part of the missing heritability in Lynch syndrome

Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort

PRECISION : the Belgian molecular profiling program of metastatic cancer for clinical decision and treatment assignment

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