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Caroline Abadie

Usher syndrome type 2 caused by activation of an USH2A pseudoexon: Implications for diagnosis and therapy
2011 · Christel Vaché, Thomas Besnard, et al. · Human Mutation · 131
Renal cell tumour characteristics in patients with the Birt-Hogg-Dubé cancer susceptibility syndrome: a retrospective, multicentre study
2014 · Patrick R Benusiglio, Sophie Giraud, et al. · Orphanet Journal of Rare Diseases · 106
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Landscape of pathogenic variations in a panel of 34 genes and cancer risk estimation from 5131 HBOC families
2018 · Laurent Castéra, Valentin Harter, et al. · Genetics in Medicine · 78
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Non-USH2A mutations in USH2 patients
2011 · Thomas Besnard, Christel Vaché, et al. · Human Mutation · 75
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PFMG2025–integrating genomic medicine into the national healthcare system in France
2025 · Caroline Abadie, Aldja Abderrahmane, et al. · The Lancet Regional Health - Europe · 69
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Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers: an international cohort study
2021 · Lieske H. Schrijver, Antonis C. Antoniou, et al. · American Journal of Obstetrics and Gynecology · 69
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Contribution of germline deleterious variants in the RAD51 paralogs to breast and ovarian cancers
2017 · Lisa Golmard, Laurent Castéra, et al. · European Journal of Human Genetics · 52
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Audiological findings in 100 USH2 patients
2011 · C Abadie, C Blanchet, et al. · Clinical Genetics · 47
Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes
2010 · Sandie Le Guédard-Méreuze, Christel Vaché, et al. · Human Mutation · 45
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Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach
2021 · Sandrine M. Caputo, Lisa Golmard, et al. · The American Journal of Human Genetics · 40
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Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation
2018 · D. Bessis, J. Miquel, et al. · British Journal of Dermatology · 31
Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum
2016 · Sébastien Moutton, Patricia Fergelot, et al. · Journal of Human Genetics · 30
Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation‐positive patients
2018 · D. Bessis, F. Morice‐Picard, et al. · British Journal of Dermatology · 24
Clinical relevance of 8q23, 15q13 and 18q21 SNP genotyping to evaluate colorectal cancer risk
2015 · Stéphanie Baert-Desurmont, Françoise Charbonnier, et al. · European Journal of Human Genetics · 20
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Involvement of germline DDX1–MYCN duplication in inherited nephroblastoma
2013 · Alice Fievet, Marc-Antoine Belaud-Rotureau, et al. · European Journal of Medical Genetics · 18
Osteosarcoma without prior retinoblastoma related to RB1 low‐penetrance germline pathogenic variants: A novel type of RB1‐related hereditary predisposition syndrome?
2019 · Marion Imbert‐Bouteille, Marion Gauthier‐Villars, et al. · Molecular Genetics & Genomic Medicine · 16
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Low risk of embryonic and other cancers in PIK3CA ‐related overgrowth spectrum: Impact on screening recommendations
2023 · Laurence Faivre, Jean‐Charles Crépin, et al. · Clinical Genetics · 15
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Minors at risk of von Hippel-Lindau disease: 10 years’ experience of predictive genetic testing and follow-up adherence
2022 · Roseline Vibert, Khadija Lahlou-Laforêt, et al. · European Journal of Human Genetics · 12
Endoscopic Phenotype of Monoallelic Carriers of MUTYH Gene Mutations in the Family of Polyposis Patients: A Prospective Study
2019 · Noha El Hachem, Caroline Abadie, et al. · Diseases of the Colon & Rectum · 10
Acute lymphocytic leukaemia in a child with Beckwith–Wiedemann syndrome harbouring a CDKN1C mutation
2010 · C. Abadie, F. Bernard, et al. · European Journal of Medical Genetics · 8
Oncogénétique en oncopédiatrie
2012 · C. Abadie, M. Gauthier-Villars, et al. · Archives de Pédiatrie · 6
Factors Influencing Adherence to the Risk Management Program for Women With a Genetic Predisposition to Breast Cancer: Real-World Data from a French Multicenter Program
2024 · Ke Zhou, Martine Bellanger, et al. · The Oncologist · 5
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Letter to the Editor: Pregnancy and von Hippel-Lindau disease
2013 · Carlijn Frantzen, Sophie J. van Asselt, et al. · Journal of neurosurgery · 5
Allelic imbalance of the TGFβR1 is not a major contributor to the genetic predisposition to colorectal cancer
2011 · C Abadie, A Killian, et al. · British Journal of Cancer · 4
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Mutation of the proline P81 into a serine modifies the tumour suppressor function of the von Hippel–Lindau gene in the ccRCC
2022 · Franck Chesnel, Emmanuelle Jullion, et al. · British Journal of Cancer · 3
Works count: 47
Citation count: 937
H-index: 16
I10-index: 19
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