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Faivre Laurence
Faivre Laurence
professeur de génétique, Université de Bourgogne
Verified email at chu-dijon.fr
Title
Cited by
Cited by
Year
Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers
KB Kuchenbaecker, JL Hopper, DR Barnes, KA Phillips, TM Mooij, ...
Jama 317 (23), 2402-2416, 2017
27792017
The revised Ghent nosology for the Marfan syndrome
BL Loeys, HC Dietz, AC Braverman, BL Callewaert, J De Backer, ...
Journal of medical genetics 47 (7), 476-485, 2010
24302010
Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome
V Bonadona, B Bonaïti, S Olschwang, S Grandjouan, L Huiart, M Longy, ...
Jama 305 (22), 2304-2310, 2011
13032011
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer
SE Bojesen, KA Pooley, SE Johnatty, J Beesley, K Michailidou, JP Tyrer, ...
Nature genetics 45 (4), 371-384, 2013
6502013
Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study
L Faivre, G Collod-Beroud, BL Loeys, A Child, C Binquet, E Gautier, ...
The American Journal of Human Genetics 81 (3), 454-466, 2007
6092007
A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma
C Bertolotto, F Lesueur, S Giuliano, T Strub, M De Lichy, K Bille, P Dessen, ...
Nature 480 (7375), 94-98, 2011
6032011
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling
GI Rice, Y del Toro Duany, EM Jenkinson, GMA Forte, BH Anderson, ...
Nature genetics 46 (5), 503-509, 2014
5952014
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11. 2 locus
S Jacquemont, A Reymond, F Zufferey, L Harewood, RG Walters, ...
Nature 478 (7367), 97-102, 2011
5342011
Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation
A Guilmatre, C Dubourg, AL Mosca, S Legallic, A Goldenberg, ...
Archives of general psychiatry 66 (9), 947-956, 2009
5162009
Autoantibodies neutralizing type I IFNs are present in~ 4% of uninfected individuals over 70 years old and account for~ 20% of COVID-19 deaths
P Bastard, A Gervais, T Le Voyer, J Rosain, Q Philippot, J Manry, ...
Science immunology 6 (62), eabl4340, 2021
4562021
Mutation spectrum and splicing variants in the OPA1 gene
C Delettre, JM Griffoin, J Kaplan, H Dollfus, B Lorenz, L Faivre, G Lenaers, ...
Human genetics 109, 584-591, 2001
4532001
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy
CL Navarro, A De Sandre-Giovannoli, R Bernard, I Boccaccio, A Boyer, ...
Human molecular genetics 13 (20), 2493-2503, 2004
4232004
Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux
CF Bartels, H Bükülmez, P Padayatti, DK Rhee, C van Ravenswaaij-Arts, ...
The American Journal of Human Genetics 75 (1), 27-34, 2004
4042004
Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer
RL Milne, KB Kuchenbaecker, K Michailidou, J Beesley, S Kar, ...
Nature genetics 49 (12), 1767-1778, 2017
3642017
Germline deletion of the miR-17∼ 92 cluster causes skeletal and growth defects in humans
L de Pontual, E Yao, P Callier, L Faivre, V Drouin, S Cariou, ...
Nature genetics 43 (10), 1026-1030, 2011
3642011
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases
C Cluzeau, S Hadj‐Rabia, M Jambou, S Mansour, P Guigue, S Masmoudi, ...
Human mutation 32 (1), 70-72, 2011
3532011
X-linked recessive TLR7 deficiency in~ 1% of men under 60 years old with life-threatening COVID-19
T Asano, B Boisson, F Onodi, D Matuozzo, M Moncada-Velez, ...
Science immunology 6 (62), eabl4348, 2021
3422021
Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk
FJ Couch, X Wang, L McGuffog, A Lee, C Olswold, KB Kuchenbaecker, ...
PLoS genetics 9 (3), e1003212, 2013
3312013
ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome
N Dagoneau, C Benoist-Lasselin, C Huber, L Faivre, A Mégarbané, ...
The American Journal of Human Genetics 75 (5), 801-806, 2004
3292004
In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome
L Faivre, RJ Gorlin, MK Wirtz, M Godfrey, N Dagoneau, JR Samples, ...
Journal of medical genetics 40 (1), 34-36, 2003
3212003
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