James Lespinasse

Affiliations
  • Department of Genetics, Centre Hospitalier de Chambéry- Hôtel-dieu, Chambery, France.

Publications (26)

Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders.

Orphanet journal of rare diseases
Avec: Maude Grelet , Véronique Blanck , Sabine Sigaudy , Nicole Philip , Fabienne Giuliano , Khaoula Khachnaoui , Godelieve Morel , Sarah Grotto , Julia Sophie , Céline Poirsier , Laurent Alric , Patrick Calvas , Gihane Chalhoub , Valérie Layet , Arnaud Molin , Cindy Colson , Luisa Marsili , Patrick Edery , Nicolas Lévy , Annachiara De Sandre-Giovannoli

Disease progression model anchored around clinical diagnosis in longitudinal cohorts: example of Alzheimer's disease and related dementia.

BMC medical research methodology
Avec: Jérémie Lespinasse , Carole Dufouil , Cécile Proust-Lima

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.

European journal of human genetics : EJHG
Avec: Thomas Husson , François Lecoquierre , Gaël Nicolas , Anne-Claire Richard , Alexandra Afenjar , Séverine Audebert-Bellanger , Catherine Badens , Frédéric Bilan , Varoona Bizaoui , Anne Boland , Marie-Noëlle Bonnet-Dupeyron , Elise Brischoux-Boucher , Céline Bonnet , Marie Bournez , Odile Boute , Perrine Brunelle , Roseline Caumes , Perrine Charles , Nicolas Chassaing , Nicolas Chatron , Benjamin Cogné , Estelle Colin , Valérie Cormier-Daire , Rodolphe Dard , Benjamin Dauriat , Julian Delanne , Jean-François Deleuze , Florence Demurger , Anne-Sophie Denommé-Pichon , Christel Depienne , Anne Dieux , Christèle Dubourg , Patrick Edery , Salima El Chehadeh , Laurence Faivre , Patricia Fergelot , Mélanie Fradin , Aurore Garde , David Geneviève , Brigitte Gilbert-Dussardier , Cyril Goizet , Alice Goldenberg , Evan Gouy , Anne-Marie Guerrot , Anne Guimier , Inès Harzalla , Delphine Héron , Bertrand Isidor , Didier Lacombe , Xavier Le Guillou Horn , Boris Keren , Alma Kuechler , Elodie Lacaze , Alinoë Lavillaureix , Daphné Lehalle , Gaëtan Lesca , Jonathan Levy , Stanislas Lyonnet , Godeliève Morel , Nolwenn Jean-Marçais , Sandrine Marlin , Luisa Marsili , Cyril Mignot , Sophie Nambot , Mathilde Nizon , Robert Olaso , Laurent Pasquier , Laurine Perrin , Florence Petit , Veronique Pingault , Amélie Piton , Fabienne Prieur , Audrey Putoux , Marc Planes , Sylvie Odent , Chloé Quélin , Sylvia Quemener-Redon , Mélanie Rama , Marlène Rio , Massimiliano Rossi , Elise Schaefer , Sophie Rondeau , Pascale Saugier-Veber , Thomas Smol , Sabine Sigaudy , Renaud Touraine , Frederic Tran Mau-Them , Aurélien Trimouille , Julien Van Gils , Clémence Vanlerberghe , Valérie Vantalon , Gabriella Vera , Marie Vincent , Alban Ziegler , Olivier Guillin , Dominique Campion , Camille Charbonnier

Malignant hypercalcemia revealing a diffuse large B-cell lymphoma in a patient with a previous diagnosis of chronic myelomonocytic leukemia: An uncommon hematological coexistence.

Clinical case reports
Avec: Alpha Oumar Diallo , Amelie Marcou , Jérémie Lespinasse , Zaida Cordoba-Sosa , Emmanuel Andrès , Léa Docquier , Noel Lorenzo-Villalba

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.

European journal of human genetics : EJHG
Avec: Angela Peron , Felice D'Arco , Kimberly A Aldinger , Constance Smith-Hicks , Christiane Zweier , Gyri A Gradek , Kimberley Bradbury , Andrea Accogli , Erica F Andersen , Ping Yee Billie Au , Roberta Battini , Daniah Beleford , Lynne M Bird , Arjan Bouman , Ange-Line Bruel , Øyvind Løvold Busk , Philippe M Campeau , Valeria Capra , Colleen Carlston , Jenny Carmichael , Anna Chassevent , Jill Clayton-Smith , Michael J Bamshad , Dawn L Earl , Laurence Faivre , Christophe Philippe , Patrick Ferreira , Luitgard Graul-Neumann , Mary J Green , Darrah Haffner , Parthiv Haldipur , Suhair Hanna , Gunnar Houge , Wendy D Jones , Cornelia Kraus , Birgit Elisabeth Kristiansen , Karen J Low , Sally Ann Lynch , Sofia Maia , Rong Mao , Ruta Kalinauskiene , Catherine Melver , Kimberly McDonald , Tara Montgomery , Manuela Morleo , Constance Motter , Amanda S Openshaw , Janice Cox Palumbos , Aditi Shah Parikh , Yezmin Perilla-Young , Cynthia M Powell , Richard Person , Megha Desai , Juliette Piard , Rolph Pfundt , Marcello Scala , Margaux Serey-Gaut , Deborah Shears , Anne Slavotinek , Mohnish Suri , Claire Turner , Tatiana Tvrdik , Karin Weiss , Ingrid M Wentzensen , Marcella Zollino , Tzung-Chien Hsieh , Auteur inconnu , Auteur inconnu , Auteur inconnu , Bert B A de Vries , Francois Guillemot , William B Dobyns , David Viskochil , Cristina Dias

DNA repair functional analyses of NBN hypomorphic variants associated with NBN-related infertility.

Human mutation
Avec: Alice Fiévet , Dorine Bellanger , Laila Zahed , Lydie Burglen , Anne-Céline Derrien , Catherine Dubois d'Enghien , Béatrice Parfait , Jean-Michel Pedespan , Guillaume Rieunier , Dominique Stoppa-Lyonnet , Marc-Henri Stern

Increasing knowledge in

Journal of medical genetics
Avec: Eloïse Giabicani , Marjolaine Willems , Virginie Steunou , Sandra Chantot-Bastaraud , Nathalie Thibaud , Walid Abi Habib , Salah Azzi , Bich Lam , Laurence Bérard , Hélène Bony-Trifunovic , Cécile Brachet , Elise Brischoux-Boucher , Emmanuelle Caldagues , Regis Coutant , Marie-Laure Cuvelier , Georges Gelwane , Isabelle Guemas , Muriel Houang , Bertrand Isidor , Claire Jeandel , Catherine Naud-Saudreau , Monique Jesuran-Perelroizen , Laurence Perrin , Juliette Piard , Claire Sechter , Pierre-François Souchon , Caroline Storey , Domitille Thomas , Yves Le Bouc , Sylvie Rossignol , Irène Netchine , Frédéric Brioude

Severe Phenotype in Patients with Large Deletions of

Cancers
Avec: Laurence Pacot , Dominique Vidaud , Audrey Sabbagh , Ingrid Laurendeau , Audrey Briand-Suleau , Audrey Coustier , Théodora Maillard , Cécile Barbance , Fanny Morice-Picard , Sabine Sigaudy , Olga O Glazunova , Lena Damaj , Valérie Layet , Chloé Quelin , Brigitte Gilbert-Dussardier , Frédérique Audic , Hélène Dollfus , Anne-Marie Guerrot , Sophie Julia , Marie-Christine Vantyghem , Magali Drouard , Marilyn Lackmy , Bruno Leheup , Yves Alembik , Alexia Lemaire , Patrick Nitschké , Florence Petit , Anne Dieux Coeslier , Eugénie Mutez , Alain Taieb , Mélanie Fradin , Yline Capri , Hala Nasser , Lyse Ruaud , Benjamin Dauriat , Sylvie Bourthoumieu , David Geneviève , Séverine Audebert-Bellanger , Mathilde Nizon , Radka Stoeva , Geoffroy Hickman , Gaël Nicolas , Juliette Mazereeuw-Hautier , Arnaud Jannic , Salah Ferkal , Béatrice Parfait , Michel Vidaud , Members Of The Nf France Network , Pierre Wolkenstein , Eric Pasmant

Personalized prediction of progression in pre-dementia patients based on individual biomarker profile: A development and validation study.

Alzheimer's & dementia : the journal of the Alzheimer's Association
Avec: Line Kühnel , Vincent Bouteloup , Jérémie Lespinasse , Geneviève Chêne , Carole Dufouil , José Luis Molinuevo , Lars Lau Raket , Auteur inconnu

Phenotypic characterization of seven individuals with Marbach-Schaaf neurodevelopmental syndrome.

American journal of medical genetics. Part A
Avec: Felix Marbach , Beata S Lipska-Ziętkiewicz , Agata Knurowska , Vincent Michaud , Henri Margot , Frédéric Tran Mau Them , Christine Coubes , Joohyun Park , Sarah Grosch , Cristiana Roggia , Ute Grasshoff , Louisa Kalsner , Anne-Sophie Denommé-Pichon , Alexandra Afenjar , Bénédicte Héron , Boris Keren , Pilar Caro , Christian P Schaaf

Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.

American journal of medical genetics. Part A
Avec: Guillaume Jedraszak , Florence Jobic , Aline Receveur , Frédéric Bilan , Brigitte Gilbert-Dussardier , Busa Tiffany , Chantal Missirian , Marjolaine Willems , Sylvie Odent , Josette Lucas , Christele Dubourg , Elise Schaefer , Sophie Scheidecker , Alice Goldenberg , Anne-Marie Guerrot , Géraldine Joly-Helas , Pascal Chambon , Cédric Le Caignec , Albert David , Charles Coutton , Véronique Satre , Gaëlle Vieville , Florence Amblard , Radu Harbuz , Damien Sanlaville , Marianne Till , Catherine Vincent-Delorme , Cindy Colson , Joris Andrieux , Sophie Naudion , Jérome Toutain , Caroline Rooryck , Bénédicte de Fréminville , Fabienne Prieur , Valérie Cormier Daire , Daniel Amram , Pascale Kleinfinger , Matthias B Schulze , Gisela Raabe-Meyer , Carolina Courage , Johannes Lemke , Eunice G Stefanou , Thomaidis Loretta , Manolakos Emmanouil , Sophia Kitsiou Tzeli , Henryka Sodowska , Jasen Anderson , Adayapalam Nandini , Henri Copin , Loïc Garçon , Thomas Liehr , Gilles Morin

Possible incomplete penetrance of Xq28 int22h-1/int22h-2 duplication.

Clinical genetics
Avec: Alexis Billes , Mathilde Pujalte , Guillaume Jedraszak , Daniel Amsallem , Elise Boudry-Labis , Odile Boute , Sonia Bouquillon , Elise Brischoux-Boucher , Patrick Callier , Charles Coutton , Anne-Laude Avice Denizet , Klaus Dieterich , Paul Kuentz , Benoît Mazel , Gilles Morin , Florence Amram , Perrine Pennamen , Marlène Rio , Juliette Piard , Audrey Putoux , Mélanie Rama , Virginie Roze-Guillaumey , Caroline Schluth-Bolard , Marianne Till , Chloé Trouvé , Gaëlle Vieville , Caroline Rooryck , Damien Sanlaville , Nicolas Chatron

Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations.

Journal of medical genetics
Avec: Mathilde Lefebvre , Ange-Line Bruel , Emilie Tisserant , Nicolas Bourgon , Yannis Duffourd , Sophie Collardeau-Frachon , Tania Attie-Bitach , Paul Kuentz , Mirna Assoum , Elise Schaefer , Salima El Chehadeh , Maria Cristina Antal , Valérie Kremer , Françoise Girard-Lemaitre , Jean-Louis Mandel , Daphne Lehalle , Sophie Nambot , Nolwenn Jean-Marçais , Nada Houcinat , Sébastien Moutton , Nathalie Marle , Laetita Lambert , Philippe Jonveaux , Bernard Foliguet , Jean-Pierre Mazutti , Dominique Gaillard , Elisabeth Alanio , Celine Poirisier , Anne-Sophie Lebre , Marion Aubert-Lenoir , Francine Arbez-Gindre , Sylvie Odent , Chloé Quélin , Philippe Loget , Melanie Fradin , Marjolaine Willems , Nicole Bigi , Marie-José Perez , Sophie Blesson , Christine Francannet , Anne-Marie Beaufrere , Sophie Patrier-Sallebert , Anne-Marie Guerrot , Alice Goldenberg , Anne-Claire Brehin , Renaud Touraine , Yline Capri , Marie-Hélène Saint-Frison , Nicole Laurent , Christophe Philippe , Frederic Tran Mau-Them , Julien Thevenon , Laurence Faivre , Christel Thauvin-Robinet , Antonio Vitobello

Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice.

Journal of medical genetics
Avec: Aia Elise Jønch , Elise Douard , Clara Moreau , Anke Van Dijck , Marzia Passeggeri , Frank Kooy , Jacques Puechberty , Carolyn Campbell , Damien Sanlaville , Henrietta Lefroy , Sonia Richetin , Aurelie Pain , David Geneviève , Usha Kini , Cédric Le Caignec , Anne-Bine Skytte , Bertrand Isidor , Christiane Zweier , Jean-Hubert Caberg , Marie-Ange Delrue , Rikke Steensbjerre Møller , Anders Bojesen , Helle Hjalgrim , Charlotte Brasch-Andersen , Emmanuelle Lemyre , Lilian Bomme Ousager , Sébastien Jacquemont , Auteur inconnu

Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

NPJ genomic medicine
Avec: Anne-Claude Tabet , Thomas Rolland , Marie Ducloy , Jonathan Lévy , Julien Buratti , Alexandre Mathieu , Damien Haye , Laurence Perrin , Céline Dupont , Sandrine Passemard , Yline Capri , Alain Verloes , Séverine Drunat , Boris Keren , Cyril Mignot , Isabelle Marey , Aurélia Jacquette , Sandra Whalen , Eva Pipiras , Brigitte Benzacken , Sandra Chantot-Bastaraud , Alexandra Afenjar , Delphine Héron , Cédric Le Caignec , Claire Beneteau , Olivier Pichon , Bertrand Isidor , Albert David , Laila El Khattabi , Stephan Kemeny , Laetitia Gouas , Philippe Vago , Anne-Laure Mosca-Boidron , Laurence Faivre , Chantal Missirian , Nicole Philip , Damien Sanlaville , Patrick Edery , Véronique Satre , Charles Coutton , Françoise Devillard , Klaus Dieterich , Marie-Laure Vuillaume , Caroline Rooryck , Didier Lacombe , Lucile Pinson , Vincent Gatinois , Jacques Puechberty , Jean Chiesa , Christèle Dubourg , Chloé Quelin , Mélanie Fradin , Hubert Journel , Annick Toutain , Dominique Martin , Abdelamdjid Benmansour , Claire S Leblond , Roberto Toro , Frédérique Amsellem , Richard Delorme , Thomas Bourgeron

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.

Journal of medical genetics
Avec: Caroline Schluth-Bolard , Flavie Diguet , Nicolas Chatron , Pierre-Antoine Rollat-Farnier , Claire Bardel , Alexandra Afenjar , Florence Amblard , Jeanne Amiel , Sophie Blesson , Patrick Callier , Yline Capri , Patrick Collignon , Marie-Pierre Cordier , Christine Coubes , Benedicte Demeer , Annabelle Chaussenot , Florence Demurger , Françoise Devillard , Martine Doco-Fenzy , Céline Dupont , Jean-Michel Dupont , Sophie Dupuis-Girod , Laurence Faivre , Brigitte Gilbert-Dussardier , Anne-Marie Guerrot , Marine Houlier , Bertrand Isidor , Sylvie Jaillard , Géraldine Joly-Hélas , Valérie Kremer , Didier Lacombe , Cédric Le Caignec , Aziza Lebbar , Marine Lebrun , Gaetan Lesca , Jonathan Levy , Valérie Malan , Michele Mathieu-Dramard , Julie Masson , Alice Masurel-Paulet , Cyril Mignot , Chantal Missirian , Fanny Morice-Picard , Sébastien Moutton , Gwenaël Nadeau , Céline Pebrel-Richard , Sylvie Odent , Véronique Paquis-Flucklinger , Laurent Pasquier , Nicole Philip , Morgane Plutino , Linda Pons , Marie-France Portnoï , Fabienne Prieur , Jacques Puechberty , Audrey Putoux , Marlène Rio , Caroline Rooryck-Thambo , Massimiliano Rossi , Catherine Sarret , Véronique Satre , Jean-Pierre Siffroi , Marianne Till , Renaud Touraine , Annick Toutain , Jérome Toutain , Stéphanie Valence , Alain Verloes , Sandra Whalen , Patrick Edery , Anne-Claude Tabet , Damien Sanlaville

A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder.

NPJ genomic medicine
Avec: Livia O Loureiro , Jennifer L Howe , Miriam S Reuter , Alana Iaboni , Kristina Calli , Delnaz Roshandel , Iva Pritišanac , Alan Moses , Julie D Forman-Kay , Brett Trost , Mehdi Zarrei , Olivia Rennie , Lynette Y S Lau , Christian R Marshall , Siddharth Srivastava , Brianna Godlewski , Elizabeth D Buttermore , Mustafa Sahin , Dean Hartley , Thomas Frazier , Jacob Vorstman , Stelios Georgiades , Suzanne M E Lewis , Peter Szatmari , Clarrisa A Lisa Bradley , Anne-Claude Tabet , Marjolaine Willems , Serge Lumbroso , Amélie Piton , Richard Delorme , Thomas Bourgeron , Evdokia Anagnostou , Stephen W Scherer

How Selection Over Time Contributes to the Inconsistency of the Association Between Sex/Gender and Cognitive Decline Across Cognitive Aging Cohorts.

American journal of epidemiology
Avec: Anaïs Rouanet , Justina Avila-Rieger , Aline Dugravot , Jérémie Lespinasse , Rachel Stuckwisch , Richard Merrick , Emma Anderson , Leann Long , Catherine Helmer , Hélène Jacqmin-Gadda , Carole Dufouil , Suzanne Judd , Jennifer Manly , Séverine Sabia , Alden Gross , Cécile Proust-Lima

Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features.

Clinical genetics
Avec: Jair Antonio Tenorio-Castaño , Pedro Arias , Alberto Fernández-Jaén , Guillermo Lay-Son , Gloria Bueno-Lozano , Allan Bayat , Laurence Faivre , Natalia Gallego , Sergio Ramos , Kameryn M Butler , Chantal Morel , Stasia Hadjiyannakis , Frederic Tran-Mau-Them , Fernando Santos-Simarro , Lucile Pinson , Antonio Federico Martínez-Monseny , María Del Mar O'Callaghan Cord , Sara Álvarez , Elliot S Stolerman , Camerun Washington , Feliciano J Ramos , The S O G R I Consortium , Pablo Lapunzina

CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Flavien Rouxel , Raissa Relator , Jennifer Kerkhof , Haley McConkey , Michael Levy , Patricia Dias , Mouna Barat-Houari , Nathalie Bednarek , Odile Boute , Nicolas Chatron , Florian Cherik , Andrée Delahaye-Duriez , Martine Doco-Fenzy , Laurence Faivre , Lucas W Gauthier , Delphine Heron , Michael S Hildebrand , Gaëtan Lesca , Benoit Mazel , Leonie A Menke , Angela T Morgan , Lucile Pinson , Chloe Quelin , Massimiliano Rossi , Nathalie Ruiz-Pallares , Frederic Tran-Mau-Them , Imke N Van Kessel , Marie Vincent , Mathys Weber , Marjolaine Willems , Gwenael Leguyader , Bekim Sadikovic , David Genevieve

Associations among hypertension, dementia biomarkers, and cognition: The MEMENTO cohort.

Alzheimer's & dementia : the journal of the Alzheimer's Association
Avec: Jérémie Lespinasse , Geneviève Chêne , Jean-Francois Mangin , Bruno Dubois , Frederic Blanc , Claire Paquet , Olivier Hanon , Vincent Planche , Audrey Gabelle , Mathieu Ceccaldi , Cedric Annweiler , Pierre Krolak-Salmon , Olivier Godefroy , David Wallon , Mathilde Sauvée , Sébastien Bergeret , Marie Chupin , Cécile Proust-Lima , Carole Dufouil , Auteur inconnu

The different clinical facets of

Frontiers in cell and developmental biology
Avec: Ilaria Parenti , Elsa Leitão , Alma Kuechler , Laurent Villard , Cyril Goizet , Cécile Courdier , Allan Bayat , Alessandra Rossi , Sophie Julia , Ange-Line Bruel , Frédéric Tran Mau-Them , Sophie Nambot , Daphné Lehalle , Marjolaine Willems , Jamal Ghoumid , Roseline Caumes , Thomas Smol , Salima El Chehadeh , Elise Schaefer , Marie-Thérèse Abi-Warde , Boris Keren , Alexandra Afenjar , Anne-Claude Tabet , Jonathan Levy , Anna Maruani , Ángel Aledo-Serrano , Waltraud Garming , Clara Milleret-Pignot , Anna Chassevent , Marije Koopmans , Nienke E Verbeek , Richard Person , Rebecca Belles , Gary Bellus , Bonnie A Salbert , Frank J Kaiser , Laure Mazzola , Philippe Convers , Laurine Perrin , Amélie Piton , Gert Wiegand , Andrea Accogli , Francesco Brancati , Fabio Benfenati , Nicolas Chatron , David Lewis-Smith , Rhys H Thomas , Federico Zara , Pasquale Striano , Gaetan Lesca , Christel Depienne

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.

Science advances
Avec: Sarah E Sheppard , Laura Bryant , Rochelle N Wickramasekara , Courtney Vaccaro , Brynn Robertson , Jodi Hallgren , Jason Hulen , Cynthia J Watson , Victor Faundes , Yannis Duffourd , Pearl Lee , M Celeste Simon , Xavier de la Cruz , Natália Padilla , Marco Flores-Mendez , Naiara Akizu , Jacqueline Smiler , Renata Pellegrino Da Silva , Dong Li , Michael March , Abdias Diaz-Rosado , Isabella Peixoto de Barcelos , Zhao Xiang Choa , Chin Yan Lim , Christèle Dubourg , Hubert Journel , Florence Demurger , Maureen Mulhern , Cigdem Akman , Natalie Lippa , Marisa Andrews , Dustin Baldridge , John Constantino , Arie van Haeringen , Irina Snoeck-Streef , Penny Chow , Anne Hing , John M Graham , Margaret Au , Laurence Faivre , Wei Shen , Rong Mao , Janice Palumbos , David Viskochil , William Gahl , Cynthia Tifft , Ellen Macnamara , Natalie Hauser , Rebecca Miller , Jessica Maffeo , Alexandra Afenjar , Diane Doummar , Boris Keren , Pamela Arn , Sarah Macklin-Mantia , Ilse Meerschaut , Bert Callewaert , André Reis , Christiane Zweier , Carole Brewer , Anand Saggar , Marie F Smeland , Ajith Kumar , Frances Elmslie , Charu Deshpande , Mathilde Nizon , Benjamin Cogne , Yvette van Ierland , Martina Wilke , Marjon van Slegtenhorst , Suzanne Koudijs , Jin Yun Chen , David Dredge , Danielle Pier , Saskia Wortmann , Erik-Jan Kamsteeg , Johannes Koch , Devon Haynes , Lynda Pollack , Hannah Titheradge , Kara Ranguin , Anne-Sophie Denommé-Pichon , Sacha Weber , Rubén Pérez de la Fuente , Jaime Sánchez Del Pozo , Jose Miguel Lezana Rosales , Pascal Joset , Katharina Steindl , Anita Rauch , Davide Mei , Francesco Mari , Renzo Guerrini , Frédéric Tran Mau-Them , Christophe Philippe , Benjamin Dauriat , Laure Raymond , Sébastien Moutton , Anna M Cueto-González , Tiong Yang Tan , Cyril Mignot , Sarah Grotto , Florence Renaldo , Theodore G Drivas , Laura Hennessy , Anna Raper , Ilaria Parenti , Frank J Kaiser , Alma Kuechler , Øyvind L Busk , Lily Islam , Jacob A Siedlik , Lindsay B Henderson , Jane Juusola , Richard Person , Rhonda E Schnur , Antonio Vitobello , Siddharth Banka , Elizabeth J Bhoj , Holly A F Stessman

Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases.

Journal of medical genetics
Avec: Caroline Racine , Anne-Sophie Denommé-Pichon , Camille Engel , Frederic Tran Mau-Them , Ange-Line Bruel , Antonio Vitobello , Hana Safraou , Arthur Sorlin , Sophie Nambot , Julian Delanne , Aurore Garde , Estelle Colin , Sébastien Moutton , Julien Thevenon , Nolwenn Jean-Marçais , Marjolaine Willems , David Geneviève , Lucile Pinson , Laurence Perrin , Fanny Laffargue , Elodie Lacaze , Arnaud Molin , Marion Gerard , Laetitia Lambert , Charlotte Benigni , Olivier Patat , Auteur inconnu , Valentin Bourgeois , Charlotte Poe , Martin Chevarin , Victor Couturier , Philippine Garret , Christophe Philippe , Yannis Duffourd , Laurence Faivre , Christel Thauvin-Robinet

Characteristics and outcomes associated with CD2 and CD25 expression on bone marrow mast cells in patients with systemic mastocytosis.

Haematologica
Avec: Julien Rossignol , Sophie Georgin-Lavialle , Danielle Canioni , Omer Beganovic , Chantal Brouzes , Olivier Fain , Maël Heiblig , Clément Gourguechon , Philippe Guilpain , Cristina Bulai-Livideanu , Stéphane Barete , Julie Agopian , Fabienne Brenet , Patrice Dubreuil , Richard Lemal , Olivier Tournilhac , Louis Terriou , David Launay , Laurence Bouillet , Catharina Chatain , Ghandi Damaj , Thomas Ballul , Celine Greco , Laura Polivka , Laurent Frenzel , Cécile Meni , Hassiba Bouktit , Dina Benabou , Clotilde Devin , Caroline Gaudy-Marqueste , Marie Gousseff , Edwige Le Mouel , Antoine Neel , Dana Ranta , Roland Jaussaud , Thierry Jo Molina , Julie Bruneau , Rose-Marie Javier , Fabien Pelletier , Florence Castelain , Frederique Retornaz , Quentin Cabrera , Patricia Zunic , Marie Pierre Gourin , Ewa Wierzbicka-Hainaut , Jean François Viallard , Christian Lavigne , Cyrille Hoarau , Isabelle Durieu , Sophie Dimicoli-Salazar , Jose Miguel Torregrosa-Diaz , Audrey Duval , Nicolas Garcelon , Jeremie Lespinasse , Angèle Soria , Yannick Chantran , Michel Arock , Christine Bodemer , Olivier Lortholary , Vahid Asnafi , Olivier Hermine , Ludovic Lhermitte

Comparison of prognostic scores according to WHO classification in 170 patients with advanced mastocytosis and C-finding treated with midostaurin.

American journal of hematology
Avec: Maël Heiblig , Clément Gourguechon , Philippe Guilpain , Cristina Bulai-Livideanu , Stéphane Barete , Yannick Chantran , Julie Agopian , Fabienne Brenet , Patrice Dubreuil , Jérémie Lespinasse , Richard Lemal , Olivier Tournilhac , Louis Terriou , David Launay , Laurence Bouillet , Catharina Chatain , Ghandi Damaj , Thomas Ballul , Celine Greco , Laura Polivka , Laurent Frenzel , Cécile Meni , Hassiba Bouktit , Dina Benabou , Caroline Gaudy-Marqueste , Marie Gousseff , Edwige Le Mouel , Antoine Neel , Dana Ranta , Roland Jaussaud , Thierry Jo Molina , Julie Bruneau , Patrick Villarese , Ludovic Lhermitte , Leila Maouche-Chrétien , Marie Temple , Olivier Kosmider , Rose-Marie Javier , Fabien Pelletier , Florence Castelain , Frederique Retornaz , Quentin Cabrera , Patricia Zunic , Marie Pierre Gourin , Ewa Wierzbicka-Hainaut , Jean François Viallard , Christian Lavigne , Cyrille Hoarau , Isabelle Durieu , Sophie Dimicoli-Salazar , Jose Miguel Torregrosa-Diaz , Mathieu Wemeau , Angèle Soria , Michel Arock , Christine Bodemer , Olivier Lortholary , Olivier Hermine , Julien Rossignol

Réseau de co-auteurs

Laurence Faivre 9 collaborations
None None 7 collaborations
Marjolaine Willems 7 collaborations
Jérémie Lespinasse 6 collaborations
Alexandra Afenjar 6 collaborations
Nicolas Chatron 5 collaborations
Anne-Marie Guerrot 5 collaborations
Bertrand Isidor 5 collaborations
Boris Keren 5 collaborations
Damien Sanlaville 5 collaborations
Patrick Edery 4 collaborations
Carole Dufouil 4 collaborations
Anne-Sophie Denommé-Pichon 4 collaborations
David Geneviève 4 collaborations
Brigitte Gilbert-Dussardier 4 collaborations
Cyril Mignot 4 collaborations
Sophie Nambot 4 collaborations
Sylvie Odent 4 collaborations
Elise Schaefer 4 collaborations
Ange-Line Bruel 4 collaborations
Christophe Philippe 4 collaborations
Yline Capri 4 collaborations
Cédric Le Caignec 4 collaborations
Sébastien Moutton 4 collaborations
Anne-Claude Tabet 4 collaborations
Lucile Pinson 4 collaborations
Sabine Sigaudy 3 collaborations
Nicole Philip 3 collaborations
Cécile Proust-Lima 3 collaborations
Elise Brischoux-Boucher 3 collaborations
Odile Boute 3 collaborations
Benjamin Dauriat 3 collaborations
Florence Demurger 3 collaborations
Christèle Dubourg 3 collaborations
Salima El Chehadeh 3 collaborations
Mélanie Fradin 3 collaborations
Alice Goldenberg 3 collaborations
Didier Lacombe 3 collaborations
Alma Kuechler 3 collaborations
Jonathan Levy 3 collaborations
Nolwenn Jean-Marçais 3 collaborations
Mathilde Nizon 3 collaborations
Amélie Piton 3 collaborations
Fabienne Prieur 3 collaborations
Audrey Putoux 3 collaborations
Marlène Rio 3 collaborations
Massimiliano Rossi 3 collaborations
Renaud Touraine 3 collaborations
Frederic Tran Mau-Them 3 collaborations
Christiane Zweier 3 collaborations
Richard Person 3 collaborations
Juliette Piard 3 collaborations
Laurence Perrin 3 collaborations
Chantal Missirian 3 collaborations
Charles Coutton 3 collaborations
Véronique Satre 3 collaborations
Marianne Till 3 collaborations
Caroline Rooryck 3 collaborations
Yannis Duffourd 3 collaborations
Antonio Vitobello 3 collaborations
Jacques Puechberty 3 collaborations
Sarah Grotto 2 collaborations
Valérie Layet 2 collaborations
Arnaud Molin 2 collaborations
Cindy Colson 2 collaborations
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