Severine Audebert-Bellanger

Gene- and pathway-level analyses of iCOGS variants highlight novel signaling pathways underlying familial breast cancer susceptibility.

Authors:

Christine Lonjou Séverine Eon-Marchais Thérèse Truong Marie-Gabrielle Dondon Mojgan Karimi Yue Jiao Francesca Damiola Laure Barjhoux Dorothée Le Gal Juana Beauvallet Noura Mebirouk Eve Cavaciuti Jean Chiesa Anne Floquet Séverine Audebert-Bellanger Sophie Giraud Thierry Frebourg Jean-Marc Limacher Laurence Gladieff Isabelle Mortemousque Hélène Dreyfus Sophie Lejeune-Dumoulin Christine Lasset Laurence Venat-Bouvet Yves-Jean Bignon Pascal Pujol Christine M Maugard Elisabeth Luporsi Valérie Bonadona Catherine Noguès Pascaline Berthet Capucine Delnatte Paul Gesta Alain Lortholary Laurence Faivre Bruno Buecher Olivier Caron Marion Gauthier-Villars Isabelle Coupier Sylvie Mazoyer Luis-Cristobal Monraz Maria Kondratova Inna Kuperstein Pascal Guénel Emmanuel Barillot Dominique Stoppa-Lyonnet Nadine Andrieu Fabienne Lesueur

Int J Cancer 2020 Dec 24. Epub 2020 Dec 24.

Inserm, U900, Institut Curie, Paris, France.

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December 2020

Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using Exon 3 as a Model System.

Cancer Res 2020 09 8;80(17):3593-3605. Epub 2020 Jul 8.

Inserm U1245, UNIROUEN, Normandie University, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.

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September 2020

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Authors:

Benjamin Cogné Sophie Ehresmann Eliane Beauregard-Lacroix Justine Rousseau Thomas Besnard Thomas Garcia Slavé Petrovski Shiri Avni Kirsty McWalter Patrick R Blackburn Stephan J Sanders Kévin Uguen Jacqueline Harris Julie S Cohen Moira Blyth Anna Lehman Jonathan Berg Mindy H Li Usha Kini Shelagh Joss Charlotte von der Lippe Christopher T Gordon Jennifer B Humberson Laurie Robak Daryl A Scott Vernon R Sutton Cara M Skraban Jennifer J Johnston Annapurna Poduri Magnus Nordenskjöld Vandana Shashi Erica H Gerkes Ernie M H F Bongers Christian Gilissen Yuri A Zarate Malin Kvarnung Kevin P Lally Peggy A Kulch Brina Daniels Andres Hernandez-Garcia Nicholas Stong Julie McGaughran Kyle Retterer Kristian Tveten Jennifer Sullivan Madeleine R Geisheker Asbjorg Stray-Pedersen Jennifer M Tarpinian Eric W Klee Julie C Sapp Jacob Zyskind Øystein L Holla Emma Bedoukian Francesca Filippini Anne Guimier Arnaud Picard Øyvind L Busk Jaya Punetha Rolph Pfundt Anna Lindstrand Ann Nordgren Fayth Kalb Megha Desai Ashley Harmon Ebanks Shalini N Jhangiani Tammie Dewan Zeynep H Coban Akdemir Aida Telegrafi Elaine H Zackai Amber Begtrup Xiaofei Song Annick Toutain Ingrid M Wentzensen Sylvie Odent Dominique Bonneau Xénia Latypova Wallid Deb Sylvia Redon Frédéric Bilan Marine Legendre Caitlin Troyer Kerri Whitlock Oana Caluseriu Marine I Murphree Pavel N Pichurin Katherine Agre Ralitza Gavrilova Tuula Rinne Meredith Park Catherine Shain Erin L Heinzen Rui Xiao Jeanne Amiel Stanislas Lyonnet Bertrand Isidor Leslie G Biesecker Dan Lowenstein Jennifer E Posey Anne-Sophie Denommé-Pichon Claude Férec Xiang-Jiao Yang Jill A Rosenfeld Brigitte Gilbert-Dussardier Séverine Audebert-Bellanger Richard Redon Holly A F Stessman Christoffer Nellaker Yaping Yang James R Lupski David B Goldstein Evan E Eichler Francois Bolduc Stéphane Bézieau Sébastien Küry Philippe M Campeau

Am J Hum Genet 2019 03 28;104(3):530-541. Epub 2019 Feb 28.

Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T1J4, Canada. Electronic address:

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March 2019

Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing.

Authors:

Elodie Girard Séverine Eon-Marchais Robert Olaso Anne-Laure Renault Francesca Damiola Marie-Gabrielle Dondon Laure Barjhoux Didier Goidin Vincent Meyer Dorothée Le Gal Juana Beauvallet Noura Mebirouk Christine Lonjou Juliette Coignard Morgane Marcou Eve Cavaciuti Céline Baulard Marie-Thérèse Bihoreau Odile Cohen-Haguenauer Dominique Leroux Clotilde Penet Sandra Fert-Ferrer Chrystelle Colas Thierry Frebourg François Eisinger Claude Adenis Anne Fajac Laurence Gladieff Julie Tinat Anne Floquet Jean Chiesa Sophie Giraud Isabelle Mortemousque Florent Soubrier Séverine Audebert-Bellanger Jean-Marc Limacher Christine Lasset Sophie Lejeune-Dumoulin Hélène Dreyfus Yves-Jean Bignon Michel Longy Pascal Pujol Laurence Venat-Bouvet Valérie Bonadona Pascaline Berthet Elisabeth Luporsi Christine M Maugard Catherine Noguès Capucine Delnatte Jean-Pierre Fricker Paul Gesta Laurence Faivre Alain Lortholary Bruno Buecher Olivier Caron Marion Gauthier-Villars Isabelle Coupier Nicolas Servant Anne Boland Sylvie Mazoyer Jean-François Deleuze Dominique Stoppa-Lyonnet Nadine Andrieu Fabienne Lesueur

Int J Cancer 2019 04 13;144(8):1962-1974. Epub 2018 Nov 13.

Inserm, Paris, France.

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April 2019

Post-traumatic Stress Disorder in Patients and Relatives Following a Diagnosis of De novo Neurofibromatosis Type 1.

Authors:

Johanna Huguen Séverine Audebert-Bellanger Emilie Brenaut Laurent Misery Claire Abasq-Thomas

Acta Derm Venereol 2018 Feb;98(2):291-293

Department of Dermatology, University Hospital Brest, CHU Morvan Brest, 2 avenue Foch, FR-29200 Brest, France.

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February 2018

Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?

Eur J Hum Genet 2017 08 14;25(8):930-934. Epub 2017 Jun 14.

Service de Génétique Médicale, CHU Nantes, Nantes, France.

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August 2017

Type 0 Spinal Muscular Atrophy: Further Delineation of Prenatal and Postnatal Features in 16 Patients.

J Neuromuscul Dis 2016 11;3(4):487-495

Department of Genetics, Normandy Center for Medical Genomics and Personalized Medicine, Rouen University Hospital, Rouen, France.

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November 2016

GENESIS: a French national resource to study the missing heritability of breast cancer.

Authors:

Olga M Sinilnikova Marie-Gabrielle Dondon Séverine Eon-Marchais Francesca Damiola Laure Barjhoux Morgane Marcou Carole Verny-Pierre Valérie Sornin Lucie Toulemonde Juana Beauvallet Dorothée Le Gal Noura Mebirouk Muriel Belotti Olivier Caron Marion Gauthier-Villars Isabelle Coupier Bruno Buecher Alain Lortholary Catherine Dugast Paul Gesta Jean-Pierre Fricker Catherine Noguès Laurence Faivre Elisabeth Luporsi Pascaline Berthet Capucine Delnatte Valérie Bonadona Christine M Maugard Pascal Pujol Christine Lasset Michel Longy Yves-Jean Bignon Claude Adenis Laurence Venat-Bouvet Liliane Demange Hélène Dreyfus Marc Frenay Laurence Gladieff Isabelle Mortemousque Séverine Audebert-Bellanger Florent Soubrier Sophie Giraud Sophie Lejeune-Dumoulin Annie Chevrier Jean-Marc Limacher Jean Chiesa Anne Fajac Anne Floquet François Eisinger Julie Tinat Chrystelle Colas Sandra Fert-Ferrer Clotilde Penet Thierry Frebourg Marie-Agnès Collonge-Rame Emmanuelle Barouk-Simonet Valérie Layet Dominique Leroux Odile Cohen-Haguenauer Fabienne Prieur Emmanuelle Mouret-Fourme François Cornélis Philippe Jonveaux Odile Bera Eve Cavaciuti Anne Tardivon Fabienne Lesueur Sylvie Mazoyer Dominique Stoppa-Lyonnet Nadine Andrieu

BMC Cancer 2016 Jan 12;16:13. Epub 2016 Jan 12.

Inserm, U900, Paris, France.

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January 2016

Clinical Characteristics of Pruritus in Neurofibromatosis 1.

Authors:

Emilie Brenaut Constance Nizery-Guermeur Séverine Audebert-Bellanger Salah Ferkal Pierre Wolkenstein Laurent Misery Claire Abasq-Thomas

Acta Derm Venereol 2016 Mar;96(3):398-9

Department of Dermatology, University Hospital of Brest , Brest, France.

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March 2016

Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization.

Hum Mutat 2015 Sep 6;36(9):894-902. Epub 2015 Aug 6.

INSERM, UMR_S 938, Centre de recherche Saint-Antoine, F-75012, Paris, France.

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September 2015

A small de novo 16q24.1 duplication in a woman with severe clinical features.

Authors:

Sylvia Quéméner-Redon Caroline Bénech Séverine Audebert-Bellanger Gaëlle Friocourt Marc Planes Philippe Parent Claude Férec

Eur J Med Genet 2013 Apr 17;56(4):211-5. Epub 2013 Jan 17.

Institut National de la Santé et de la Recherche Médicale (INSERM), UMR1078, Brest, France.

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April 2013

Cascade testing in families of carriers identified through newborn screening in Western Brittany (France).

Authors:

Ingrid Duguépéroux Marie-Pierre Audrézet Philippe Parent Séverine Audebert-Bellanger Michel Roussey Claude Férec Virginie Scotet

J Cyst Fibros 2013 Jul 28;12(4):338-44. Epub 2012 Dec 28.

Inserm, U1078, Brest, F-29200, France.

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July 2013

Subtelomeric monosomy 11q and trisomy 16q in siblings and an unrelated child: molecular characterization of two der(11)t(11;16).

Authors:

Audrey Basinko Séverine Audebert-Bellanger Nathalie Douet-Guilbert Jérémie Le Franc Philippe Parent Sylvia Quemener Philippe La Selve Clément Bovo Frédéric Morel Marie-Josée Le Bris Marc De Braekeleer

Am J Med Genet A 2011 Sep 10;155A(9):2281-7. Epub 2011 Aug 10.

Laboratoire d'Histologie, Cytologie et Cytogénétique, Faculté de Médecine et des Sciences de la Santé, Université de Bretagne Occidentale, Brest, France.

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September 2011