Virginie Carmignac (Virginie Quéré, V Carmignac)

Publication Activity (10 Years)

Years Active: 2017-2021
Publications (10 Years): 7

Top Topics

Chronic Kidney Disease

Transforming Growth Factor

Ejection Fraction

Prognostic Factors

Top Venues

Genetics in medicine : official journal of the American College of Medical Genetics

Journal of the European Academy of Dermatology and Venereology : JEADV

This page only lists publications with an associated author ORCID identifier.

Publications

A Sorlin, Virginie Carmignac, J Amiel, Olivia Boccara, S Fraitag, A Maruani, Martin Theiler, L Weibel, Y Duffourd, C Philippe, C Thauvin-Robinet, L Faivre, J-B Rivière, P Vabres, Paul Kuentz
Expanding the clinical spectrum of mosaic BRAF skin phenotypes. Journal of the European Academy of Dermatology and Venereology : JEADV 35 (10) (2021)
Martin Theiler, Lisa Weibel, Stephanie Christen-Zaech, Virginie Carmignac, A Sorlin, Kathrin Neuhaus, M Chevarin, C Thauvin-Robinet, C Philippe, L Faivre, P Vabres, Paul Kuentz
Cerebriform sebaceous nevus: a subtype of organoid nevus due to specific postzygotic FGFR2 mutations. Journal of the European Academy of Dermatology and Venereology : JEADV 35 (10) (2021)
Ilaria Gori, Roger George, Andrew G Purkiss, Stephanie Strohbuecker, Rebecca A Randall, Roksana Ogrodowicz, Virginie Carmignac, Laurence Faivre, Dhira Joshi, Svend Kjær, Caroline S Hill
Mutations in SKI in Shprintzen-Goldberg syndrome lead to attenuated TGF-β responses through SKI stabilization. eLife 10 (2021)
Virginie Carmignac, G Salomon, M Severino-Freire, Y Duffourd, Martin Chevarin, P Vabres, Mazereeuw-Hautier Juliette
Mosaic NEK9 mutation, fibrous dysplasia and premature puberty in naevus comedonicus syndrome. The British journal of dermatology (2021)
Virginie Carmignac, Pierre Vabres
Response to Resta et al. Genetics in medicine : official journal of the American College of Medical Genetics 23 (11) (2021)
Philippine Garret, Céline Bris, Vincent Procaccio, Patrizia Amati-Bonneau, Pierre Vabres, Nada Houcinat, Emilie Tisserant, François Feillet, Ange-Line Bruel, Virginie Carmignac, Christophe Philippe, Arthur Sorlin, Frédéric Tran Mau-Them, Antonio Vitobello, Jean-Marc Costa, Aïcha Boughalem, Detlef Trost, Laurence Olivier-Faivre, Christel Thauvin-Robinet, Yannis Duffourd
Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light. Human mutation 40 (12) (2019)
Paul Kuentz, Judith St-Onge, Yannis Duffourd, Jean-Benoît Courcet, Virginie Carmignac, Thibaud Jouan, Arthur Sorlin, Claire Abasq-Thomas, Juliette Albuisson, Jeanne Amiel, Daniel Amram, Stéphanie Arpin, Tania Attie-Bitach, Nadia Bahi-Buisson, Sébastien Barbarot, Geneviève Baujat, Didier Bessis, Olivia Boccara, Maryse Bonnière, Odile Boute, Anne-Claire Bursztejn, Christine Chiaverini, Valerie Cormier-Daire, Christine Coubes, Bruno Delobel, Patrick Edery, Salima El Chehadeh, Christine Francannet, David Genevieve, Alice Goldenberg, Damien Haye, Bertrand Isidor, Marie-Line Jacquemont, Philippe Khau Van Kien, Didier Lacombe, Ludovic Martin, Jelena Martinovic, Annabel Maruani, Michèle Mathieu-Dramard, Juliette Mazereeuw-Hautier, Caroline Michot, Mignot Cyril, Juliette Miquel, Fanny Morice-Picard, Florence Petit, Alice Phan, Massimiliano Rossi, Renaud Touraine, Alain Verloes, Marie Vincent, Catherine Vincent-Delorme, Sandra Whalen, Marjolaine Willems, Nathalie Marle, Daphne Lehalle, Julien Thevenon, Christel Thauvin-Robinet, Christel Thauvin-Robinet, Laurence Faivre, Pierre Vabres, Jean-Baptiste Rivière
Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing. Genetics in medicine : official journal of the American College of Medical Genetics 19 (9) (2017)