Detalhe da pesquisa
1.
Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.
Am J Hum Genet
; 108(10): 1907-1923, 2021 10 07.
Artigo
Inglês
| MEDLINE | ID: mdl-34597585
2.
3q29 duplications: A cohort of 46 patients and a literature review.
Am J Med Genet A
; : e63531, 2024 Feb 29.
Artigo
Inglês
| MEDLINE | ID: mdl-38421086
3.
OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum.
J Med Genet
; 60(6): 620-626, 2023 06.
Artigo
Inglês
| MEDLINE | ID: mdl-36368868
4.
First estimates of diffuse gastric cancer risks for carriers of CTNNA1 germline pathogenic variants.
J Med Genet
; 59(12): 1189-1195, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-36038258
5.
Novel germline MET pathogenic variants in French patients with papillary renal cell carcinomas type I.
Hum Mutat
; 43(3): 316-327, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-34882875
6.
Diagnostic chest X-rays and breast cancer risk among women with a hereditary predisposition to breast cancer unexplained by a BRCA1 or BRCA2 mutation.
Breast Cancer Res
; 23(1): 79, 2021 08 03.
Artigo
Inglês
| MEDLINE | ID: mdl-34344426
7.
Gene- and pathway-level analyses of iCOGS variants highlight novel signaling pathways underlying familial breast cancer susceptibility.
Int J Cancer
; 148(8): 1895-1909, 2021 04 15.
Artigo
Inglês
| MEDLINE | ID: mdl-33368296
8.
Next-generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy.
Hum Mutat
; 41(12): 2167-2178, 2020 12.
Artigo
Inglês
| MEDLINE | ID: mdl-33131162
9.
Alu element insertion in the MLH1 exon 6 coding sequence as a mutation predisposing to Lynch syndrome.
Hum Mutat
; 40(6): 716-720, 2019 06.
Artigo
Inglês
| MEDLINE | ID: mdl-30815977
10.
Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing.
Int J Cancer
; 144(8): 1962-1974, 2019 04 15.
Artigo
Inglês
| MEDLINE | ID: mdl-30303537
11.
Psychosocial and clinical factors of probands impacting intrafamilial disclosure and uptake of genetic testing among families with BRCA1/2 or MMR gene mutations.
Psychooncology
; 28(8): 1679-1686, 2019 08.
Artigo
Inglês
| MEDLINE | ID: mdl-31152683
12.
Genetic analysis of adults heterozygous for ALPL mutations.
J Bone Miner Metab
; 36(6): 723-733, 2018 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-29236161
13.
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.
PLoS Genet
; 10(9): e1004580, 2014 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-25188300
14.
GENESIS: a French national resource to study the missing heritability of breast cancer.
BMC Cancer
; 16: 13, 2016 Jan 12.
Artigo
Inglês
| MEDLINE | ID: mdl-26758370
15.
Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing.
Mol Genet Metab
; 116(3): 215-20, 2015 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-26432670
16.
Chromosomal aberrations and their prognostic value in a series of 174 untreated patients with Waldenström's macroglobulinemia.
Haematologica
; 98(4): 649-54, 2013 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-23065509
17.
Retrospective analysis of real-world data to evaluate actionability of a comprehensive molecular profiling panel in solid tumor tissue samples (REALM study).
PLoS One
; 18(9): e0291495, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-37708140
18.
Association and performance of polygenic risk scores for breast cancer among French women presenting or not a familial predisposition to the disease.
Eur J Cancer
; 179: 76-86, 2023 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36509001
19.
New prognostic markers, determined using gene expression analyses, reveal two distinct subtypes of chronic myelomonocytic leukaemia patients.
Br J Haematol
; 157(3): 347-56, 2012 May.
Artigo
Inglês
| MEDLINE | ID: mdl-22390678
20.
An incidental finding of maternal multiple myeloma by non invasive prenatal testing.
Prenat Diagn
; 37(12): 1257-1260, 2017 12.
Artigo
Inglês
| MEDLINE | ID: mdl-29023902