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1.
Tumor mutational burden assessment and standardized bioinformatics approach using custom NGS panels in clinical routine.
BMC Biol
; 22(1): 43, 2024 Feb 20.
Article
in English
| MEDLINE | ID: mdl-38378561
2.
APC germline pathogenic variants and epithelial ovarian cancer: causal or coincidental findings?
J Med Genet
; 60(5): 460-463, 2023 05.
Article
in English
| MEDLINE | ID: mdl-36270768
3.
AXIN2 germline testing in a French cohort validates pathogenic variants as a rare cause of predisposition to colorectal polyposis and cancer.
Genes Chromosomes Cancer
; 62(4): 210-222, 2023 04.
Article
in English
| MEDLINE | ID: mdl-36502525
4.
Next-generation sequencing in breast pathology: real impact on routine practice over a decade since its introduction.
Histopathology
; 82(1): 162-169, 2023 Jan.
Article
in English
| MEDLINE | ID: mdl-36482269
5.
Molecular characterisation of tumours of the lacrimal apparatus.
Histopathology
; 83(6): 925-935, 2023 Dec.
Article
in English
| MEDLINE | ID: mdl-37706251
6.
Cancer risk and tumour spectrum in 172 patients with a germline SUFU pathogenic variation: a collaborative study of the SIOPE Host Genome Working Group.
J Med Genet
; 2022 Jun 29.
Article
in English
| MEDLINE | ID: mdl-35768194
7.
Highly Sensitive Detection Method of DICER1 Tumor Hotspot Mutations by Drop-off Droplet Digital PCR.
Clin Chem
; 68(2): 322-331, 2022 02 01.
Article
in English
| MEDLINE | ID: mdl-34928333
8.
Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosum.
Clin Genet
; 101(3): 307-316, 2022 03.
Article
in English
| MEDLINE | ID: mdl-34866188
9.
Lynch syndrome: influence of additional susceptibility variants on cancer risk.
Eur J Hum Genet
; 31(9): 1078-1082, 2023 09.
Article
in English
| MEDLINE | ID: mdl-37088804
10.
Minors at risk of von Hippel-Lindau disease: 10 years' experience of predictive genetic testing and follow-up adherence.
Eur J Hum Genet
; 30(10): 1171-1177, 2022 10.
Article
in English
| MEDLINE | ID: mdl-35918537
11.
Utility of a mainstreamed genetic testing pathway in breast and ovarian cancer patients during the COVID-19 pandemic.
Eur J Med Genet
; 63(12): 104098, 2020 Dec.
Article
in English
| MEDLINE | ID: mdl-33186762
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