Pierre Vabres

Affiliations

Centre de Genetique et Centre de Reference Anomalies du Développement et Syndromes Malformatifs de l'Est, FHU-TRANSLAD, CHU Dijon, Dijon, France.
UMR-Inserm 1231 GAD Team, Genetique des Anomalies du Développement, Université de Bourgogne Franche-Comte, Dijon, France.

Publications (49)

Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome.

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

Avec: Thomas Besnard , Natacha Sloboda , Alice Goldenberg , Sébastien Küry , Benjamin Cogné , Flora Breheret , Eva Trochu , Solène Conrad , Marie Vincent , Wallid Deb , Xavier Balguerie , Sébastien Barbarot , Geneviève Baujat , Tawfeg Ben-Omran , Anne-Claire Bursztejn , Virginie Carmignac , Alexandre N Datta , Aline Delignières , Laurence Faivre , Betty Gardie , Jean-Louis Guéant , Paul Kuentz , Marion Lenglet , Marie-Cécile Nassogne , Vincent Ramaekers , Rhonda E Schnur , Yue Si , Erin Torti , Julien Thevenon , Lionel Van Maldergem , Dorothea Wand , Arnaud Wiedemann , Bertrand Cariou , Richard Redon , Antonin Lamazière , Stéphane Bézieau , Francois Feillet , Bertrand Isidor

Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3.

Cell stem cell

Avec: Florian Villegas , Daphné Lehalle , Daniela Mayer , Melanie Rittirsch , Michael B Stadler , Marietta Zinner , Daniel Olivieri , Laurence Duplomb-Jego , Eveline S J M De Bont , Yannis Duffourd , Floor Duijkers , Magali Avila , David Geneviève , Nada Houcinat , Thibaud Jouan , Paul Kuentz , Klaske D Lichtenbelt , Christel Thauvin-Robinet , Judith St-Onge , Julien Thevenon , Koen L I van Gassen , Mieke van Haelst , Silvana van Koningsbruggen , Daniel Hess , Sebastien A Smallwood , Jean-Baptiste Rivière , Laurence Faivre , Joerg Betschinger

Large International Validation of ABSIS and PDAI Pemphigus Severity Scores.

The Journal of investigative dermatology

Avec: Vivien Hébert , Claire Boulard , Estelle Houivet , Sophie Duvert Lehembre , Luca Borradori , Rocco Della Torre , Claudio Feliciani , Luca Fania , Giovanna Zambruno , Diana B Camaioni , Biago Didona , Branka Marinovic , Enno Schmidt , Nina Schumacher , Christian Hünefeld , Stefan Schanz , Johannes Steffen Kern , Silke Hofmann , Anne Charlotte Bouyeure , Catherine Picard-Dahan , Catherine Prost-Squarcioni , Frederic Caux , Marina Alexandre , Saskia Ingen-Housz-Oro , Martine Bagot , Emmanuelle Tancrede-Bohin , Jean David Bouaziz , Nathalie Franck , Bruno Labeille , Marie Aleth Richard , Emmanuel Delaporte , Alain Dupuy , Michel D'Incan , Gaelle Quereux , François Skowro , Carle Paul , Cristina Bulai Livideanu , Marie Beylot-Barry , Marie Sylvie Doutre , Martine Avenel-Audran , Christophe Bedane , Philippe Bernard , Laurent Machet , Hervé Maillard , Denis Jullien , Sebastien Debarbieux , Bruno Sassolas , Laurent Misery , Claire Abasq , Olivier Dereure , Philippe Lagoutte , Vincent Ferranti , Victoria P Werth , Dedee F Murrell , Michael Hertl , Jacques Benichou , Pascal Joly , Auteur inconnu , Auteur inconnu

Mosaicism due to postzygotic mutations in women with focal dermal hypoplasia.

The British journal of dermatology

Avec: L Heinz , E Bourrat , P Vabres , J Thevenon , A Hotz , S Hörer , J Küsel , A D Zimmer , S Alter , R Happle , J Fischer

Dermatoscopic and clinical features of congenital or congenital-type nail matrix nevi: A multicenter prospective cohort study by the International Dermoscopy Society.

Journal of the American Academy of Dermatology

Avec: Félix Pham , Amélie Boespflug , Gérard Duru , Alice Phan , Nicolas Poulalhon , Laura Weiler , Masaru Tanaka , Aimilios Lallas , Dai Ogata , Anne Céline Davaine , Philippe Bahadoran , Xavier Balguerie , Grażyna Kamińska-Winciorek , Isabelle Tromme , Osvaldo Correia , Moon-Bum Kim , Ashfaq A Marghoob , Linda Martin , Pascale Guitera , Mariame Meziane , Juliette Miquel , Je-Ho Mun , Giuseppe Argenziano , Didier Bessis , Johnny Bourke , Zeljko Mijuskovic , Christine Chiaverini , Cloé Corven-Benoit , Catherine Droitcourt , François Skowron , Myriam Marque , Iris Zalaudek , Cliff Rosendahl , David Moreno-Ramirez , Holger Haenssle , Josep Malvehy , Susana Puig , Caroline Robert , Thomas R Schopf , Alon Scope , Stéphane Dalle , Luc Thomas

Anti-BP180 IgG antibody ELISA values correlate with adverse pregnancy outcomes in pemphigoid gestationis.

Journal of the European Academy of Dermatology and Venereology : JEADV

Avec: Nadège Cordel , Jasmine Flament , Fabienne Jouen , Vannina Seta , Emmanuelle Tancrède-Bohin , Catherine Picard Dahan , Maria-Polina Konstantinou , Olivier Dereure , Gaëlle Quéreux , Catherine Prost , Christophe Bedane , Sébastien Debarbieux , Jean-Philippe Lacour , Anne Dompmartin , Ewa Wierzbicka-Hainaut , Isabelle Bourgault Villada , Saskia Ingen Housz Oro , Marie-Aleth Richard , Emmanuel Delaporte , Anne Pham-Ledard , Marie-Thérèse Leccia , Noémie Litrowski , Catherine Michel , Brigitte Lagrange , Michel D'Incan , Claire Abasq , Sophie Duvert-Lehembre , Alain Dupuy , Isabelle Alcaraz , Anne-Laure Breton-Guitarian , Florian Lombart , Eric Estève , Laurent Machet , Pascal Del Giudice , Marion Fenot , Thibaut Belmondo , Florence Morin , Olivia Guérin , Jacques Benichou , Benoît Tressières , Pascal Joly , Auteur inconnu

Intramuscular capillary-type hemangioma: Diagnosis, treatment, and outcomes. A French multicentric retrospective study of 66 cases.

European journal of radiology

Avec: Jordan Orly , Annouk Bisdorff , Antoine Fraissenon , Aline Joly , Grégoire Boulouis , Laurent Guibaud , Elsa Tavernier , Stéphanie Mallet , Clément Marcelin , Juliette Miquel , Ludovic Martin , Catherine Droitcourt , Laurence Gusdorf , Claire Abasq , Ali Dadban , Christine Chiaverini , Denis Herbreteau , Olivia Boccara , Michel Wassef , Annabel Maruani

Alpelisib for treatment of patients with PIK3CA-related overgrowth spectrum (PROS).

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

Avec: Guillaume Canaud , Juan Carlos Lopez Gutierrez , Alan D Irvine , Jordan R Hansford , Nii Ankrah , Fabrice Branle , Athanasia Papadimitriou , Antonia Ridolfi , Paul O'Connell , Stuart Turner , Denise M Adams

Neutralization of HSF1 in cells from PIK3CA-related overgrowth spectrum patients blocks abnormal proliferation.

Biochemical and biophysical research communications

Avec: Romain Da Costa , Steven De Almeida , Martin Chevarin , Smail Hadj-Rabia , Stéphanie Leclerc-Mercier , Christel Thauvin-Robinet , Carmen Garrido , Laurence Faivre , Laurence Duplomb , Gaëtan Jego

Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.

Nature genetics

Avec: Arthur Sorlin , Stanislav S Kholmanskikh , Bénédicte Demeer , Judith St-Onge , Yannis Duffourd , Paul Kuentz , Jean-Benoît Courcet , Virginie Carmignac , Philippine Garret , Didier Bessis , Odile Boute , Alain Bron , Guillaume Captier , Esther Carmi , Bernard Devauchelle , David Geneviève , Catherine Gondry-Jouet , Laurent Guibaud , Arnaud Lafon , Michèle Mathieu-Dramard , Julien Thevenon , William B Dobyns , Geneviève Bernard , Satyamaanasa Polubothu , Francesca Faravelli , Veronica A Kinsler , Christel Thauvin , Laurence Faivre , M Elizabeth Ross , Jean-Baptiste Rivière

[Alopecia, deformed ear and mental retardation associated with terminal 21q deletion].

Annales de dermatologie et de venereologie

Avec: E Lafabregue , G Chaby , P Vabres , E Carmi

2.5 years' experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases.

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

Avec: Ange-Line Bruel , Antonio Vitobello , Frédéric Tran Mau-Them , Sophie Nambot , Yannis Duffourd , Virginie Quéré , Paul Kuentz , Philippine Garret , Julien Thevenon , Sébastien Moutton , Daphné Lehalle , Nolwenn Jean-Marçais , Auteur inconnu , Aurore Garde , Julian Delanne , Mathilde Lefebvre , François Lecoquierre , Detlef Trost , Megan Cho , Amber Begtrup , Aida Telegrafi , Anne-Laure Mosca-Boidron , Patrick Callier , Christophe Philippe , Laurence Faivre , Christel Thauvin-Robinet

Acute acral eruptions in children during the COVID-19 pandemic: Characteristics of 103 children and their family clusters.

Annales de dermatologie et de venereologie

Avec: T Hubiche , A Phan , S Leducq , J Rapp , L Fertitta , H Aubert , S Barbarot , C Chiaverini , B Giraudeau , A Lasek , S Mallet , A Labarelle , M Piram , C McCuaig , L Martin , L Monitor , I Nicol , M Bissuel , A Bellissen , D Jullien , C Lesort , P Vabres , A Maruani , Auteur inconnu

Health care transition for patients with vascular malformations: a French multicenter cross-sectional study.

Orphanet journal of rare diseases

Avec: Camille Vermersch , Olivia Boccara , Christine Chiaverini , Juliette Mazereeuw-Hautier , Nina Sigg , Stéphanie Mallet , Denis Herbreteau , Anne Le Touze , Annabel Maruani , Sophie Leducq , Auteur inconnu

Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations.

Clinical genetics

Avec: Laurence Faivre , Jean-Charles Crépin , Manon Réda , Sophie Nambot , Virginie Carmignac , Caroline Abadie , Tristan Mirault , Cécile Faure-Conter , Juliette Mazereeuw-Hautier , Aude Maza , Eve Puzenat , Marie-Agnès Collonge-Rame , Anne-Claire Bursztejn , Christophe Philippe , Christel Thauvin-Robinet , Martin Chevarin , Claire Abasq-Thomas , Jeanne Amiel , Stéphanie Arpin , Sébastien Barbarot , Geneviève Baujat , Didier Bessis , Emmanuelle Bourrat , Odile Boute , Nicolas Chassaing , Christine Coubes , Bénédicte Demeer , Patrick Edery , Salima El Chehadeh , Alice Goldenberg , Smail Hadj-Rabia , Damien Haye , Bertrand Isidor , Marie-Line Jacquemont , Philippe Khau Van Kien , Didier Lacombe , Daphné Lehalle , Laetitia Lambert , Ludovic Martin , Annabel Maruani , Fanny Morice-Picard , Florence Petit , Alice Phan , Lucile Pinson , Massimiliano Rossi , Renaud Touraine , Clémence Vanlerberghe , Marie Vincent , Catherine Vincent-Delorme , Sandra Whalen , Marjolaine Willems , Nathalie Marle , Virginie Verkarre , Christine Devalland , Mojgan Devouassoux-Shisheboran , Marine Abad , Nathalie Rioux-Leclercq , Bertille Bonniaud , Yannis Duffourd , Jehanne Martel , Christine Binquet , Paul Kuentz ,

PTPN11 Mosaicism Causes a Spectrum of Pigmentary and Vascular Neurocutaneous Disorders and Predisposes to Melanoma.

The Journal of investigative dermatology

Avec: Satyamaanasa Polubothu , Nicole Bender , Siobhan Muthiah , Davide Zecchin , Charalambos Demetriou , Sara Barberan Martin , Sony Malhotra , Jana Travnickova , Zhiqiang Zeng , Markus Böhm , Sebastien Barbarot , Catherine Cottrell , Olivia Davies , Eulalia Baselga , Nigel P Burrows , Virginie Carmignac , Joey Santiago Diaz , Christine Fink , Holger A Haenssle , Rudolf Happle , Mark Harland , Jacquelyn Majerowski , Marie Vincent , Julia A Newton-Bishop , D Tim Bishop , Dawn Siegel , E Elizabeth Patton , Maya Topf , Neil Rajan , Beth Drolet , Veronica A Kinsler

Sustained Remission Without Corticosteroids Among Patients With Pemphigus Who Had Rituximab as First-Line Therapy: Follow-Up of the Ritux 3 Trial.

JAMA dermatology

Avec: Billal Tedbirt , Maud Maho-Vaillant , Estelle Houivet , Claire Mignard , Marie-Laure Golinski , Sébastien Calbo , Catherine Prost-Squarcioni , Bruno Labeille , Catherine Picard-Dahan , Guillaume Chaby , Marie-Aleth Richard , Emmanuelle Tancrede-Bohin , Sophie Duvert-Lehembre , Emmanuel Delaporte , Philippe Bernard , Frédéric Caux , Marina Alexandre , Philippe Musette , Saskia Ingen-Housz-Oro , Gaëlle Quereux , Alain Dupuy , Sébastien Debarbieux , Martine Avenel-Audran , Michel D'Incan , Christophe Bédane , Nathalie Bénéton , Denis Jullien , Nicolas Dupin , Laurent Misery , Laurent Machet , Marie Beylot-Barry , Olivier Dereure , Bruno Sassolas , Jacques Benichou , Pascal Joly , Vivien Hébert , Auteur inconnu

Allelic heterogeneity in a patient with postzygotic MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.

Clinical genetics

Avec: Camille Engel , Martin Chevarin , Juliette Piard , Marine Abad , Quentin Thomas , Virginie Carmignac , Yannis Duffourd , Martine Lemesle-Martin , Georges Tarris , Christel Thauvin-Robinet , Laurence Faivre , Paul Kuentz

[CDAGS syndrome (craniostenosis, deafness, anal abnormalities and genitourinary malformations with skin rash)].

Annales de dermatologie et de venereologie

Avec: R Cohen-Sors , B Devauchelle , P Vabres , M Jain , B Demeer , E Carmi

Follow-Up of Patients With Complete Remission of Locally Advanced Basal Cell Carcinoma After Vismodegib Discontinuation: A Multicenter French Study of 116 Patients.

Journal of clinical oncology : official journal of the American Society of Clinical Oncology

Avec: Florian Herms , Jerome Lambert , Jean-Jacques Grob , Luc Haudebourg , Martine Bagot , Sophie Dalac , Caroline Dutriaux , Bernard Guillot , Geraldine Jeudy , Christine Mateus , Sandrine Monestier , Laurent Mortier , Nicolas Poulalhon , Sorilla Prey , Caroline Robert , Celeste Lebbe , Nicolas Meyer , Nicole Basset-Seguin

Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.

Nature genetics

Congenital infiltrating lipomatosis of the face with lingual mucosal neuromas associated with a PIK3CA mutation.

Pediatric dermatology

Avec: Clémence Briand , Louise Galmiche-Rolland , Vincent Couloigner , Severine Audebert , Laurent Misery , Claire Abasq-Thomas

Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications.

Clinical genetics

Avec: Alison Foster , Basile Chalot , Thalia Antoniadi , Elise Schaefer , Rebecca Keelagher , Gavin Ryan , Quentin Thomas , Christophe Philippe , Ange-Line Bruel , Arthur Sorlin , Christel Thauvin-Robinet , Marc Bardou , Maxime Luu , Veronique Quenardelle , Valerie Wolff , Jessica Woodley , Derek Lim , Rebecca Igbokwe , Annie Joseph , Harriet Walker , Andrea Jester , Jonathan Ellenbogen , Diana Johnson , Bethanie Rooke , Celia Moss , Trevor Cole , Laurence Faivre

Factors Associated With Short-term Relapse in Patients With Pemphigus Who Receive Rituximab as First-line Therapy: A Post Hoc Analysis of a Randomized Clinical Trial.

JAMA dermatology

Avec: Claire Mignard , Maud Maho-Vaillant , Marie-Laure Golinski , Pierre Balayé , Catherine Prost-Squarcioni , Estelle Houivet , Sé Bastien Calbo , Bruno Labeille , Catherine Picard-Dahan , Maria Polina Konstantinou , Guillaume Chaby , Marie-Aleth Richard , Jean-David Bouaziz , Sophie Duvert-Lehembre , Emmanuel Delaporte , Philippe Bernard , Frédéric Caux , Marina Alexandre , Saskia Ingen-Housz-Oro , Gaëlle Quereux , Alain Dupuy , Sébastien Debarbieux , Martine Avenel-Audran , Michel D'Incan , Christophe Bédane , Nathalie Bénéton , Denis Jullien , Nicolas Dupin , Laurent Misery , Laurent Machet , Marie Beylot-Barry , Olivier Dereure , Bruno Sassolas , Jacques Benichou , Pascal Joly , Vivien Hébert , Auteur inconnu

Journal of medical genetics

Avec: Daphné Lehalle , Arthur Sorlin , Tatjana Bierhals , Magali Avila , Virginie Carmignac , Martin Chevarin , Erin Torti , Yuichi Abe , Tobias Bartolomaeus , Jill Clayton-Smith , Benjamin Cogné , Ivon Cusco , Laurence Duplomb , Eveline De Bont , Yannis Duffourd , Floor Duijkers , Orly Elpeleg , Aviva Fattal , David Geneviève , Maria J Guillen Sacoto , Anne Guimier , David J Harris , Maja Hempel , Bertrand Isidor , Thibaud Jouan , Paul Kuentz , Eriko Koshimizu , Klaske Lichtenbelt , Valerie Loik Ramey , Miriam Maik , Sakoto Miyakate , Yoshiko Murakami , Laurent Pasquier , Helio Pedro , Laurie Simone , Krista Sondergaard-Schatz , Judith St-Onge , Julien Thevenon , Irene Valenzuela , Rami Abou Jamra , Koen van Gassen , Mieke M van Haelst , Silvana van Koningsbruggen , Edgard Verdura , Christa Whelan Habela , Pia Zacher , Jean-Baptiste Rivière , Christel Thauvin-Robinet , Joerg Betschinger , Laurence Faivre

A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement.

Clinical genetics

Avec: Sofia Douzgou , Myfanwy Rawson , Eulalia Baselga , Moise Danielpour , Laurence Faivre , Alon Kashanian , Kim M Keppler-Noreuil , Paul Kuentz , Grazia M S Mancini , Marie-Cecile Maniere , Victor Martinez-Glez , Victoria E Parker , Robert K Semple , Siddharth Srivastava , Marie-Claire Y De Wit , John M Graham , Jill Clayton-Smith , Ghayda M Mirzaa , Leslie G Biesecker

Sirolimus (Rapamycin) for Slow-Flow Malformations in Children: The Observational-Phase Randomized Clinical PERFORMUS Trial.

JAMA dermatology

Avec: Annabel Maruani , Elsa Tavernier , Olivia Boccara , Juliette Mazereeuw-Hautier , Sophie Leducq , Didier Bessis , Laurent Guibaud , Virginie Carmignac , Stéphanie Mallet , Sébastien Barbarot , Christine Chiaverini , Catherine Droitcourt , Anne-Claire Bursztejn , Céline Lengellé , Jean-Baptiste Woillard , Denis Herbreteau , Anne Le Touze , Aline Joly , Christine Léauté-Labrèze , Julie Powell , Hélène Bourgoin , Valérie Gissot , Bruno Giraudeau , Baptiste Morel

ARP-T1-associated Bazex-Dupré-Christol syndrome is an inherited basal cell cancer with ciliary defects characteristic of ciliopathies.

Communications biology

Avec: Hyun-Sook Park , Eirini Papanastasi , Gabriela Blanchard , Elena Chiticariu , Daniel Bachmann , Markus Plomann , Fanny Morice-Picard , Asma Smahi , Marcel Huber , Christine Pich , Daniel Hohl

Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.

Nature genetics

Topical sirolimus 0.1% for treating cutaneous microcystic lymphatic malformations in children and adults (TOPICAL): protocol for a multicenter phase 2, within-person, randomized, double-blind, vehicle-controlled clinical trial.

Trials

Avec: Sophie Leducq , Agnès Caille , Sébastien Barbarot , Nathalie Bénéton , Didier Bessis , Olivia Boccara , Anne-Claire Bursztejn , Christine Chiaverini , Anne Dompmartin , Catherine Droitcourt , Valérie Gissot , Dominique Goga , Laurent Guibaud , Denis Herbreteau , Anne Le Touze , Christine Léauté-Labrèze , Gérard Lorette , Stéphanie Mallet , Ludovic Martin , Juliette Mazereeuw-Hautier , Alice Phan , Patrice Plantin , Isabelle Quéré , Hélène Bourgoin , Bruno Giraudeau , Annabel Maruani , Auteur inconnu

Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests.

European journal of human genetics : EJHG

Avec: Christel Thauvin-Robinet , Julien Thevenon , Sophie Nambot , Julian Delanne , Paul Kuentz , Ange-Line Bruel , Aline Chassagne , Elodie Cretin , Aurore Pelissier , Chritine Peyron , Elodie Gautier , Daphné Lehalle , Nolwenn Jean-Marçais , Patrick Callier , Anne-Laure Mosca-Boidron , Antonio Vitobello , Arthur Sorlin , Frédéric Tran Mau-Them , Christophe Philippe , Laurent Demougeot , Charlotte Poé , Thibaud Jouan , Martin Chevarin , Mathilde Lefebvre , Marc Bardou , Emilie Tisserant , Maxime Luu , Christine Binquet , Jean-François Deleuze , Céline Verstuyft , Yannis Duffourd , Laurence Faivre

Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4.

Human mutation

Avec: Nadja Ballin , Alrun Hotz , Emmanuelle Bourrat , Julia Küsel , Vinzenz Oji , Bakar Bouadjar , Davide Brognoli , Geoffroy Hickman , Lisa Heinz , Slaheddine Marrakchi , Stéphanie Leclerc-Mercier , Alan Irvine , Gianluca Tadini , Henning Hamm , Cristina Has , Ulrike Blume-Peytavi , Diana Mitter , Marina Reitenbach , Ingrid Hausser , Andreas D Zimmer , Svenja Alter , Judith Fischer

Epidermolysis bullosa simplex generalized severe induces a T helper 17 response and is improved by apremilast treatment.

The British journal of dermatology

Avec: E Castela , M K Tulic , A Rozières , E Bourrat , J-F Nicolas , J Kanitakis , P Vabres , D Bessis , J Mazereeuw , F Morice-Picard , D Baty , F Berard , J-P Lacour , T Passeron , C Chiaverini

Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum.

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

Avec: Victoria E R Parker , Kim M Keppler-Noreuil , Laurence Faivre , Maxime Luu , Neal L Oden , Leena De Silva , Julie C Sapp , Katrina Andrews , Marc Bardou , Kong Y Chen , Thomas N Darling , Elodie Gautier , Barry R Goldspiel , Smail Hadj-Rabia , Julie Harris , Georgios Kounidas , Parag Kumar , Marjorie J Lindhurst , Romaric Loffroy , Ludovic Martin , Alice Phan , Kristina I Rother , Brigitte C Widemann , Pamela L Wolters , Christine Coubes , Lucile Pinson , Marjolaine Willems , Catherine Vincent-Delorme , Auteur inconnu , Robert K Semple , Leslie G Biesecker

Clinical and molecular data in cases of prenatal localized overgrowth disorder: major implication of genetic variants in PI3K-AKT-mTOR signaling pathway.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology

Avec: N Bourgon , V Carmignac , A Sorlin , Y Duffourd , C Philippe , C Thauvin-Robinet , L Guibaud , L Faivre , P Vabres , P Kuentz , Auteur inconnu

Safety and efficacy of low-dose PI3K inhibitor taselisib in adult patients with CLOVES and Klippel-Trenaunay syndrome (KTS): the TOTEM trial, a phase 1/2 multicenter, open-label, single-arm study.

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

Avec: M Luu , P Vabres , H Devilliers , R Loffroy , A Phan , L Martin , F Morice-Picard , F Petit , M Willems , D Bessis , M L Jacquemont , A Maruani , C Chiaverini , T Mirault , J Clayton-Smith , M Carpentier , C Fleck , A Maurer , M Yousfi , V E R Parker , R K Semple , M Bardou , L Faivre

Fertility in McCune Albright syndrome female: A case study focusing on AMH as a marker of ovarian dysfunction and a literature review.

Journal of gynecology obstetrics and human reproduction

Avec: Mikaël Agopiantz , Arthur Sorlin , Bruno Leheup , Virginie Carmignac , Catherine Malaplate-Armand , Catherine Diligent , Céline Bonnet , Guillaume Gauchotte

Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients.

American journal of medical genetics. Part A

Avec: Daphné Lehalle , Ange-Line Bruel , Antonio Vitobello , Anne-Sophie Denommé-Pichon , Yannis Duffourd , Mirna Assoum , Jeanne Amiel , Geneviève Baujat , Bettina Bessieres , Stefania Bigoni , Lydie Burglen , Guillaume Captier , Rodolphe Dard , Patrick Edery , Fernanda Fortunato , David Geneviève , Alice Goldenberg , Laurent Guibaud , Delphine Héron , Muriel Holder-Espinasse , Damien Lederer , Fermina Lopez Grondona , Sarah Grotto , Sandrine Marlin , Gwenaël Nadeau , Arnaud Picard , Massimiliano Rossi , Joëlle Roume , Damien Sanlaville , Pascale Saugier-Veber , Stéphane Triau , Maria Irene Valenzuela Palafoll , Clémence Vanlerberghe , Lionel Van Maldergem , Myriam Vezain , Catherine Vincent-Delorme , Einat Zivi , Julien Thevenon , Christel Thauvin-Robinet , Patrick Callier , Laurence Faivre

Surgical management of Chiari malformation type 1 associated to MCAP syndrome and study of cerebellar and adjacent tissues for PIK3CA mosaicism.

European journal of medical genetics

Avec: Federico Di Rocco , Maria Lucia Licci , Aurore Garde , Carmine Mottolese , Christel Thauvin-Robinet , Martin Chevarin , Laurent Guibaud , Paul Kuentz , Laurence Faivre

A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort.

European journal of human genetics : EJHG

Avec: Philippine Garret , Martin Chevarin , Antonio Vitobello , Simon Verdez , Cyril Fournier , Alain Verloes , Emilie Tisserant , Orlane Prevel , Christophe Philippe , Anne-Sophie Denommé-Pichon , Ange-Line Bruel , Frédéric Tran Mau-Them , Hana Safraou , Aïcha Boughalem , Jean-Marc Costa , Detlef Trost , Christel Thauvin-Robinet , Laurence Faivre , Yannis Duffourd

Compassionate use of everolimus for refractory epilepsy in a patient with MTOR mosaic mutation.

European journal of medical genetics

Avec: Nawale Hadouiri , Veronique Darmency , Laurent Guibaud , Alexis Arzimanoglou , Arthur Sorlin , Virginie Carmignac , Jean-Baptiste Rivière , Frédéric Huet , Maxime Luu , Marc Bardou , Christel Thauvin-Robinet , Laurence Faivre

Rituximab is an effective treatment in patients with pemphigus vulgaris and demonstrates a steroid-sparing effect.

The British journal of dermatology

Avec: D M Chen , A Odueyungbo , E Csinady , L Gearhart , P Lehane , M Cheu , M Maho-Vaillant , C Prost-Squarcioni , V Hebert , E Houivet , S Calbo , F Caillot , M L Golinski , B Labeille , C Picard-Dahan , C Paul , M A Richard , J D Bouaziz , S Duvert-Lehembre , P Bernard , F Caux , M Alexandre , S Ingen-Housz-Oro , P Vabres , E Delaporte , G Quereux , A Dupuy , S Debarbieux , M Avenel-Audran , M D'Incan , C Bedane , N Bénéton , D Jullien , N Dupin , L Misery , L Machet , M Beylot-Barry , O Dereure , B Sassolas , J Benichou , P Musette , P Joly , Auteur inconnu

Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light.

Human mutation

Avec: Philippine Garret , Céline Bris , Vincent Procaccio , Patrizia Amati-Bonneau , Nada Houcinat , Emilie Tisserant , François Feillet , Ange-Line Bruel , Virginie Quéré , Christophe Philippe , Arthur Sorlin , Frédéric Tran Mau-Them , Antonio Vitobello , Jean-Marc Costa , Aïcha Boughalem , Detlef Trost , Laurence Faivre , Christel Thauvin-Robinet , Yannis Duffourd

Mosaic abnormalities of the skin: review and guidelines from the European Reference Network for rare skin diseases.

The British journal of dermatology

Avec: V A Kinsler , O Boccara , S Fraitag , A Torrelo , P Vabres , A Diociaiuti

Severe gynaecological involvement in Proteus Syndrome.

European journal of medical genetics

Avec: Maella Severino-Freire , Aude Maza , Paul Kuentz , Yannis Duffourd , Laurence Faivre , Edith Brazet , Nicolas Chassaing , Eliane Mery-Lemarche , Juliette Mazereeuw-Hautier

Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials.

Clinical genetics

Avec: Aurore Garde , Laurent Guibaud , Alice Goldenberg , Florence Petit , Rodolphe Dard , Joelle Roume , Juliette Mazereeuw-Hautier , Nicolas Chassaing , Didier Lacombe , Fanny Morice-Picard , Annick Toutain , Stéphanie Arpin , Olivia Boccara , Renaud Touraine , Patricia Blanchet , Christine Coubes , Marjolaine Willems , Lucile Pinson , Philippe Khau Van Kien , Christine Chiaverini , Fabienne Giuliano , Jean-Luc Alessandri , Michèle Mathieu-Dramard , Gilles Morin , Anne-Claire Bursztejn , Cyril Mignot , Diane Doummar , Frederico Di Rocco , Jenny Cornaton , Claire Nicolas , Elodie Gautier , Maxime Luu , Marc Bardou , Arthur Sorlin , Christophe Philippe , Patrick Edery , Massimiliano Rossi , Virginie Carmignac , Christel Thauvin-Robinet , Laurence Faivre

Cerebriform sebaceous nevus: a subtype of organoid nevus due to specific postzygotic FGFR2 mutations.

Journal of the European Academy of Dermatology and Venereology : JEADV

Avec: M Theiler , L Weibel , S Christen-Zaech , V Carmignac , A Sorlin , K Neuhaus , M Chevarin , C Thauvin-Robinet , C Philippe , L Faivre , P Vabres , P Kuentz

Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.

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

Avec: Virginie Carmignac , Cyril Mignot , Emmanuelle Blanchard , Paul Kuentz , Marie-Hélène Aubriot-Lorton , Victoria E R Parker , Arthur Sorlin , Sylvie Fraitag , Jean-Benoît Courcet , Yannis Duffourd , Diana Rodriguez , Rachel G Knox , Satyamaanasa Polubothu , Anne Boland , Robert Olaso , Marc Delepine , Véronique Darmency , Melissa Riachi , Chloé Quelin , Paul Rollier , Louise Goujon , Sarah Grotto , Yline Capri , Marie-Line Jacquemont , Sylvie Odent , Daniel Amram , Martin Chevarin , Catherine Vincent-Delorme , Benoît Catteau , Laurent Guibaud , Alexis Arzimanoglou , Malika Keddar , Catherine Sarret , Patrick Callier , Didier Bessis , David Geneviève , Jean-François Deleuze , Christel Thauvin , Robert K Semple , Christophe Philippe , Jean-Baptiste Rivière , Veronica A Kinsler , Laurence Faivre ,

Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases.

The Journal of experimental medicine

Avec: Jérémie Rosain , Tom Le Voyer , Xian Liu , Adrian Gervais , Laura Polivka , Axel Cederholm , Laureline Berteloot , Audrey V Parent , Alessandra Pescatore , Ezia Spinosa , Snezana Minic , Ana Elisa Kiszewski , Miyuki Tsumura , Chloé Thibault , Maria Esnaola Azcoiti , Jelena Martinovic , Quentin Philippot , Taushif Khan , Astrid Marchal , Bénédicte Charmeteau-De Muylder , Lucy Bizien , Caroline Deswarte , Lillia Hadjem , Marie-Odile Fauvarque , Karim Dorgham , Daniel Eriksson , Emilia Liana Falcone , Mathilde Puel , Sinem Ünal , Amyrath Geraldo , Corentin Le Floc'h , Hailun Li , Sylvie Rheault , Christine Muti , Claire Bobrie-Moyrand , Anne Welfringer-Morin , Ramsay L Fuleihan , Romain Lévy , Marie Roelens , Liwei Gao , Marie Materna , Silvia Pellegrini , Lorenzo Piemonti , Emilie Catherinot , Jean-Christophe Goffard , Arnaud Fekkar , Aissata Sacko-Sow , Camille Soudée , Soraya Boucherit , Anna-Lena Neehus , Cristina Has , Stefanie Hübner , Géraldine Blanchard-Rohner , Blanca Amador-Borrero , Takanori Utsumi , Maki Taniguchi , Hiroo Tani , Kazushi Izawa , Takahiro Yasumi , Sotaro Kanai , Mélanie Migaud , Mélodie Aubart , Nathalie Lambert , Guy Gorochov , Capucine Picard , Claire Soudais , Anne-Sophie L'Honneur , Flore Rozenberg , Joshua D Milner , Shen-Ying Zhang , Dusan Trpinac , Nico Marr , Nathalie Boddaert , Isabelle Desguerre , Manolis Pasparakis , Corey N Miller , Cláudia S Poziomczyk , Laurent Abel , Satoshi Okada , Emmanuelle Jouanguy , Rémi Cheynier , Qian Zhang , Aurélie Cobat , Vivien Béziat , Bertrand Boisson , Julie Steffann , Francesca Fusco , Matilde Valeria Ursini , Smail Hadj-Rabia , Christine Bodemer , Jacinta Bustamante , Hervé Luche , Anne Puel , Gilles Courtois , Paul Bastard , Nils Landegren , Mark S Anderson , Jean-Laurent Casanova

Réseau de co-auteurs

Laurence Faivre 22 collaborations

Paul Kuentz 14 collaborations

Yannis Duffourd 14 collaborations

Christel Thauvin-Robinet 14 collaborations

Virginie Carmignac 13 collaborations

None None 12 collaborations

Laurent Guibaud 11 collaborations

Arthur Sorlin 11 collaborations

P Vabres 10 collaborations

Julien Thevenon 9 collaborations

Didier Bessis 8 collaborations

Martin Chevarin 8 collaborations

Christophe Philippe 8 collaborations

David Geneviève 7 collaborations

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Ange-Line Bruel 6 collaborations

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