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Research | | Open
Early-onset autoimmunity associated with SOCS1 haploinsufficiency
- Jérôme Hadjadj
- , Carla Noemi Castro
- , Maud Tusseau
- , Marie-Claude Stolzenberg
- , Fabienne Mazerolles
- , Nathalie Aladjidi
- , Martin Armstrong
- , Houman Ashrafian
- , Ioana Cutcutache
- , Georg Ebetsberger-Dachs
- , Katherine S. Elliott
- , Isabelle Durieu
- , Nicole Fabien
- , Mathieu Fusaro
- , Maximilian Heeg
- , Yohan Schmitt
- , Marc Bras
- , Julian C. Knight
- , Jean-Christophe Lega
- , Gaetan Lesca
- , Anne-Laure Mathieu
- , Marion Moreews
- , Baptiste Moreira
- , Audrey Nosbaum
- , Matthew Page
- , Cécile Picard
- , T. Ronan Leahy
- , Isabelle Rouvet
- , Ethel Ryan
- , Damien Sanlaville
- , Klaus Schwarz
- , Andrew Skelton
- , Jean-Francois Viallard
- , Sebastien Viel
- , Marine Villard
- , Isabelle Callebaut
- , Capucine Picard
- , Thierry Walzer
- , Stephan Ehl
- , Alain Fischer
- , Bénédicte Neven
- , Alexandre Belot
- & Frédéric Rieux-Laucat
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Research | | Open
Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes
- M N Loviglio
- , M Leleu
- , K Männik
- , M Passeggeri
- , G Giannuzzi
- , I van der Werf
- , S M Waszak
- , M Zazhytska
- , I Roberts-Caldeira
- , N Gheldof
- , E Migliavacca
- , A A Alfaiz
- , L Hippolyte
- , A M Maillard
- , Maria Nicla Loviglio
- , Katrin Männik
- , Ilse van der Werf
- , Giuliana Giannuzzi
- , Marianna Zazhytska
- , Nele Gheldof
- , Eugenia Migliavacca
- , Ali A Alfaiz
- , Inês Roberts-Caldeira
- , Loyse Hippolyte
- , Anne M Maillard
- , Alessandra Ferrarini
- , Florence Niel Butschi
- , Bernard Conrad
- , Marie-Claude Addor
- , Marco Belfiore
- , Katharina Roetzer
- , Anke Van Dijck
- , Bettina Blaumeiser
- , Frank Kooy
- , Filip Roelens
- , Annelies Dheedene
- , Barbara Delle Chiaie
- , Björn Menten
- , Ann Oostra
- , Jean-Hubert Caberg
- , Melissa Carter
- , Barbara Kellam
- , Dimitri J Stavropoulos
- , Christian Marshall
- , Stephen W Scherer
- , Rosanna Weksberg
- , Cheryl Cytrynbaum
- , Anne Bassett
- , Chelsea Lowther
- , Jane Gillis
- , Sara MacKay
- , Iben Bache
- , Lilian B Ousager
- , Maja Patricia Smerdel
- , Jesper Graakjaer
- , Susanne Kjaergaard
- , Andres Metspalu
- , Michele Mathieu
- , Dominique Bonneau
- , Agnes Guichet
- , Philippe Parent
- , Claude Férec
- , Marion Gerard
- , Ghislaine Plessis
- , James Lespinasse
- , Alice Masurel
- , Nathalie Marle
- , Laurence Faivre
- , Patrick Callier
- , Valerie Layet
- , Nathalie Le Meur
- , Céline Le Goff
- , Bénédicte Duban-Bedu
- , Sylvie Sukno
- , Odile Boute
- , Joris Andrieux
- , Patricia Blanchet
- , David Geneviève
- , Jacques Puechberty
- , Anouck Schneider
- , Bruno Leheup
- , Philippe Jonveaux
- , Sandra Mercier
- , Albert David
- , Cédric Le Caignec
- , Loic de Pontual
- , Eva Pipiras
- , Aurelia Jacquette
- , Boris Keren
- , Brigitte Gilbert-Dussardier
- , Frederic Bilan
- , Alice Goldenberg
- , Pascal Chambon
- , Annick Toutain
- , Marianne Till
- , Damien Sanlaville
- , Barbara Leube
- , Brigitte Royer-Pokora
- , Hans Jörgen Grabe
- , Carsten Oliver Schmidt
- , Claudia Schurmann
- , Georg Homuth
- , Gudmar Thorleifsson
- , Unnur Thorsteinsdottir
- , Laura Bernardini
- , Antonio Novelli
- , Lucia Micale
- , Giuseppe Merla
- , Marcella Zollino
- , Francesca Mari
- , Caterina Lo Rizzo
- , Alessandra Renieri
- , Margherita Silengo
- , Anneke T Vulto-van Silfhout
- , Meyke Schouten
- , Rolph Pfundt
- , Nicole de Leeuw
- , Fleur Vansenne
- , Saskia M Maas
- , Daniela QCM Barge-Schaapveld
- , Alida C Knegt
- , Barbro Stadheim
- , Olaug Rodningen
- , Gunnar Houge
- , Sue Price
- , Lara Hawkes
- , Carolyn Campbell
- , Usha Kini
- , Julie Vogt
- , Robin Walters
- , Alexandra Blakemore
- , James F Gusella
- , Yiping Shen
- , Daryl Scott
- , Carlos A Bacino
- , Karen Tsuchiya
- , Roger Ladda
- , Susan Sell
- , Alexander Asamoah
- , Aline I Hamati
- , Jill A Rosenfeld
- , Lisa G Shaffer
- , Elyse Mitchell
- , Jennelle C Hodge
- , Jacques S Beckmann
- , Sébastien Jacquemont
- , Alexandre Reymond
- , Alexandre Reymond
- , Lisa J Ewans
- , David Mowat
- , Jan Walker
- , David J Amor
- , Hilde Van Esch
- , Patricia Leroy
- , Jean-Hubert Caberg
- , John-Steven Bamforth
- , Deepti Babu
- , Marianne Till
- , Damien Sanlaville
- , David Geneviève
- , Jacques Puechberty
- , Bertrand Isidor
- , Nataliya DiDonato
- , Karl Hackmann
- , Marzia Passeggeri
- , Arie van Haeringen
- , Jill A Rosenfeld
- , Lisa G Shaffer
- , Rosemarie Smith
- , Sara Ellingwood
- , Darren M Farber
- , Vinay Puri
- , Neda Zadeh
- , David D Weaver
- , Mandy Miller
- , Timothy Wilks
- , Carolina J Jorgez
- , DeeDee Lafayette
- , Sébastien Jacquemont
- , A Van Dijck
- , R F Kooy
- , D Sanlaville
- , J A Rosenfeld
- , L G Shaffer
- , J Andrieux
- , C Marshall
- , S W Scherer
- , Y Shen
- , J F Gusella
- , U Thorsteinsdottir
- , G Thorleifsson
- , E T Dermitzakis
- , B Deplancke
- , J S Beckmann
- , J Rougemont
- , S Jacquemont
- & A Reymond
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Research |
Fryns type mesomelic dysplasia of the upper limbs caused by inverted duplications of the HOXD gene cluster
- Cédric Le Caignec
- , Olivier Pichon
- , Annaig Briand
- , Benoît de Courtivron
- , Christian Bonnard
- , Pierre Lindenbaum
- , Richard Redon
- , Caroline Schluth-Bolard
- , Flavie Diguet
- , Pierre-Antoine Rollat-Farnier
- , Marta Sanchez-Castro
- , Marie-Laure Vuillaume
- , Damien Sanlaville
- , Denis Duboule
- , André Mégarbané
- & Annick Toutain
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Research |
Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals
- Henri Margot
- , Guilaine Boursier
- , Claire Duflos
- , Elodie Sanchez
- , Jeanne Amiel
- , Jean-Christophe Andrau
- , Stéphanie Arpin
- , Elise Brischoux-Boucher
- , Odile Boute
- , Lydie Burglen
- , Charlotte Caille
- , Yline Capri
- , Patrick Collignon
- , Solène Conrad
- , Valérie Cormier-Daire
- , Geoffroy Delplancq
- , Klaus Dieterich
- , Hélène Dollfus
- , Mélanie Fradin
- , Laurence Faivre
- , Helder Fernandes
- , Christine Francannet
- , Vincent Gatinois
- , Marion Gerard
- , Alice Goldenberg
- , Jamal Ghoumid
- , Sarah Grotto
- , Anne-Marie Guerrot
- , Agnès Guichet
- , Bertrand Isidor
- , Marie-Line Jacquemont
- , Sophie Julia
- , Philippe Khau Van Kien
- , Marine Legendre
- , K. H. Le Quan Sang
- , Bruno Leheup
- , Stanislas Lyonnet
- , Virginie Magry
- , Sylvie Manouvrier
- , Dominique Martin
- , Godelieve Morel
- , Arnold Munnich
- , Sophie Naudion
- , Sylvie Odent
- , Laurence Perrin
- , Florence Petit
- , Nicole Philip
- , Marlène Rio
- , Julie Robbe
- , Massimiliano Rossi
- , Elisabeth Sarrazin
- , Annick Toutain
- , Julien Van Gils
- , Gabriella Vera
- , Alain Verloes
- , Sacha Weber
- , Sandra Whalen
- , Damien Sanlaville
- , Didier Lacombe
- , Nathalie Aladjidi
- & David Geneviève
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Amendments and Corrections | | Open
Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome
- 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
- , James Lespinasse
- , 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
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Amendments and Corrections |
Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay
- Bettina E. Mucha
- , Siddharth Banka
- , Norbert Fonya Ajeawung
- , Sirinart Molidperee
- , Gary G. Chen
- , Mary Kay Koenig
- , Rhamat B. Adejumo
- , Marianne Till
- , Michael Harbord
- , Renee Perrier
- , Emmanuelle Lemyre
- , Renee-Myriam Boucher
- , Brian G. Skotko
- , Jessica L. Waxler
- , Mary Ann Thomas
- , Jennelle C. Hodge
- , Jozef Gecz
- , Jillian Nicholl
- , Lesley McGregor
- , Tobias Linden
- , Sanjay M. Sisodiya
- , Damien Sanlaville
- , Sau W. Cheung
- , Carl Ernst
- & Philippe M. Campeau
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Research |
A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay
- Bettina E. Mucha
- , Siddharth Banka
- , Norbert Fonya Ajeawung
- , Sirinart Molidperee
- , Gary G. Chen
- , Mary Kay Koenig
- , Rhamat B. Adejumo
- , Marianne Till
- , Michael Harbord
- , Renee Perrier
- , Emmanuelle Lemyre
- , Renee-Myriam Boucher
- , Brian G. Skotko
- , Jessica L. Waxler
- , Mary Ann Thomas
- , Jennelle C. Hodge
- , Jozef Gecz
- , Jillian Nicholl
- , Lesley McGregor
- , Tobias Linden
- , Sanjay M. Sisodiya
- , Damien Sanlaville
- , Sau W. Cheung
- , Carl Ernst
- & Philippe M. Campeau
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Research |
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7
- Laura Castilla-Vallmanya
- , Kaja K. Selmer
- , Clémantine Dimartino
- , Raquel Rabionet
- , Bernardo Blanco-Sánchez
- , Sandra Yang
- , Margot R. F. Reijnders
- , Antonie J. van Essen
- , Myriam Oufadem
- , Magnus D. Vigeland
- , Barbro Stadheim
- , Gunnar Houge
- , Helen Cox
- , Helen Kingston
- , Jill Clayton-Smith
- , Jeffrey W. Innis
- , Maria Iascone
- , Anna Cereda
- , Sara Gabbiadini
- , Wendy K. Chung
- , Victoria Sanders
- , Joel Charrow
- , Emily Bryant
- , John Millichap
- , Antonio Vitobello
- , Christel Thauvin
- , Frederic Tran Mau-Them
- , Laurence Faivre
- , Gaetan Lesca
- , Audrey Labalme
- , Christelle Rougeot
- , Nicolas Chatron
- , Damien Sanlaville
- , Katherine M. Christensen
- , Amelia Kirby
- , Raymond Lewandowski
- , Rachel Gannaway
- , Maha Aly
- , Anna Lehman
- , Lorne Clarke
- , Luitgard Graul-Neumann
- , Christiane Zweier
- , Davor Lessel
- , Bernarda Lozic
- , Ingvild Aukrust
- , Ryan Peretz
- , Robert Stratton
- , Thomas Smol
- , Anne Dieux-Coëslier
- , Joanna Meira
- , Elizabeth Wohler
- , Nara Sobreira
- , Erin M. Beaver
- , Jennifer Heeley
- , Lauren C. Briere
- , Frances A. High
- , David A. Sweetser
- , Melissa A. Walker
- , Catherine E. Keegan
- , Parul Jayakar
- , Marwan Shinawi
- , Wilhelmina S. Kerstjens-Frederikse
- , Dawn L. Earl
- , Victoria M. Siu
- , Emma Reesor
- , Tony Yao
- , Robert A. Hegele
- , Olena M. Vaske
- , Shannon Rego
- , Kevin A. Shapiro
- , Brian Wong
- , Michael J. Gambello
- , Marie McDonald
- , Danielle Karlowicz
- , Roberto Colombo
- , Alessandro Serretti
- , Lynn Pais
- , Anne O’Donnell-Luria
- , Alison Wray
- , Simon Sadedin
- , Belinda Chong
- , Tiong Y. Tan
- , John Christodoulou
- , Susan M. White
- , Anne Slavotinek
- , Deborah Barbouth
- , Dayna Morel Swols
- , Mélanie Parisot
- , Christine Bole-Feysot
- , Patrick Nitschké
- , Véronique Pingault
- , Arnold Munnich
- , Megan T. Cho
- , Valérie Cormier-Daire
- , Susanna Balcells
- , Stanislas Lyonnet
- , Daniel Grinberg
- , Jeanne Amiel
- , Roser Urreizti
- & Christopher T. Gordon
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Research |
Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?
- Jessica Le Gall
- , Mathilde Nizon
- , Olivier Pichon
- , Joris Andrieux
- , Séverine Audebert-Bellanger
- , Sabine Baron
- , Claire Beneteau
- , Frédéric Bilan
- , Odile Boute
- , Tiffany Busa
- , Valérie Cormier-Daire
- , Claude Ferec
- , Mélanie Fradin
- , Brigitte Gilbert-Dussardier
- , Sylvie Jaillard
- , Aia Jønch
- , Dominique Martin-Coignard
- , Sandra Mercier
- , Sébastien Moutton
- , Caroline Rooryck
- , Elise Schaefer
- , Marie Vincent
- , Damien Sanlaville
- , Cédric Le Caignec
- , Sébastien Jacquemont
- , Albert David
- & Bertrand Isidor
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Failure to detect an 8p22–8p23.1 duplication in patients with Kabuki (Niikawa–Kuroki) syndrome
- Damien Sanlaville
- , David Genevieve
- , Céline Bernardin
- , Jeanne Amiel
- , Clarisse Baumann
- , Marie-Christine de Blois
- , Valérie Cormier-Daire
- , Bénédicte Gerard
- , Marion Gerard
- , Martine Le Merrer
- , Philippe Parent
- , Fabienne Prieur
- , Marguerite Prieur
- , Odile Raoul
- , Annick Toutain
- , Alain Verloes
- , Géraldine Viot
- , Serge Romana
- , Arnold Munnich
- , Stanislas Lyonnet
- , Michel Vekemans
- & Catherine Turleau
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Research |
Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study)
- Aline Chassagne
- , Aurore Pélissier
- , Françoise Houdayer
- , Elodie Cretin
- , Elodie Gautier
- , Dominique Salvi
- , Sarah Kidri
- , Aurélie Godard
- , Christel Thauvin-Robinet
- , Alice Masurel
- , Daphné Lehalle
- , Nolwenn Jean-Marçais
- , Julien Thevenon
- , Gaetan Lesca
- , Audrey Putoux
- , Marie-Pierre Cordier
- , Sophie Dupuis-Girod
- , Marianne Till
- , Yannis Duffourd
- , Jean-Baptiste Rivière
- , Lorraine Joly
- , Christine Juif
- , Olivier Putois
- , Pierre Ancet
- , Anne-Sophie Lapointe
- , Paulette Morin
- , Patrick Edery
- , Massimiliano Rossi
- , Damien Sanlaville
- , Sophie Béjean
- , Christine Peyron
- & Laurence Faivre
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Research |
Guidelines for reporting secondary findings of genome sequencing in cancer genes: the SFMPP recommendations
- Pascal Pujol
- , Pierre Vande Perre
- , Laurence Faivre
- , Damien Sanlaville
- , Carole Corsini
- , Bernard Baertschi
- , Michèle Anahory
- , Dominique Vaur
- , Sylviane Olschwang
- , Nadem Soufir
- , Noëlle Bastide
- , Sarah Amar
- , Michèle Vintraud
- , Olivier Ingster
- , Stéphane Richard
- , Pierre Le Coz
- , Jean-Philippe Spano
- , Olivier Caron
- , Pascal Hammel
- , Elisabeth Luporsi
- , Alain Toledano
- , Xavier Rebillard
- , Anne Cambon-Thomsen
- , Olivier Putois
- , Jean-Marc Rey
- , Christian Hervé
- , Caroline Zorn
- , Karen Baudry
- , Virginie Galibert
- , Joseph Gligorov
- , David Azria
- , Brigitte Bressac-de Paillerets
- , Nelly Burnichon
- , Marc Spielmann
- , Daniel Zarca
- , Isabelle Coupier
- , Olivier Cussenot
- , Anne-Paule Gimenez-Roqueplo
- , Sophie Giraud
- , Anne-Sophie Lapointe
- , Patricia Niccoli
- , Isabelle Raingeard
- , Muriel Le Bidan
- , Thierry Frebourg
- , Arash Rafii
- & David Geneviève
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Research | | Open
A framework to identify contributing genes in patients with Phelan-McDermid syndrome
- 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
- , James Lespinasse
- , 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
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Research |
Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy
- Gabrielle Rudolf
- , Gaetan Lesca
- , Mana M Mehrjouy
- , Audrey Labalme
- , Manal Salmi
- , Iben Bache
- , Nadine Bruneau
- , Manuela Pendziwiat
- , Joel Fluss
- , Julitta de Bellescize
- , Julia Scholly
- , Rikke S Møller
- , Dana Craiu
- , Niels Tommerup
- , Maria Paola Valenti-Hirsch
- , Caroline Schluth-Bolard
- , Frédérique Sloan-Béna
- , Katherine L Helbig
- , Sarah Weckhuysen
- , Patrick Edery
- , Safia Coulbaut
- , Mohamed Abbas
- , Ingrid E Scheffer
- , Sha Tang
- , Candace T Myers
- , Hannah Stamberger
- , Gemma L Carvill
- , Deepali N Shinde
- , Heather C Mefford
- , Elena Neagu
- , Robert Huether
- , Hsiao-Mei Lu
- , Alice Dica
- , Julie S Cohen
- , Catrinel Iliescu
- , Cristina Pomeran
- , James Rubenstein
- , Ingo Helbig
- , Damien Sanlaville
- , Edouard Hirsch
- & Pierre Szepetowski
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A systematic variant screening in familial cases of congenital heart defects demonstrates the usefulness of molecular genetics in this field
- Rajae El Malti
- , Hui Liu
- , Bérénice Doray
- , Christel Thauvin
- , Alice Maltret
- , Claire Dauphin
- , Miguel Gonçalves-Rocha
- , Michel Teboul
- , Patricia Blanchet
- , Joëlle Roume
- , Céline Gronier
- , Corinne Ducreux
- , Magali Veyrier
- , François Marçon
- , Philippe Acar
- , Jean-René Lusson
- , Marilyne Levy
- , Constance Beyler
- , Jacqueline Vigneron
- , Marie-Pierre Cordier-Alex
- , François Heitz
- , Damien Sanlaville
- , Damien Bonnet
- & Patrice Bouvagnet
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GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction
- Gaetan Lesca
- , Gabrielle Rudolf
- , Nadine Bruneau
- , Natalia Lozovaya
- , Audrey Labalme
- , Nadia Boutry-Kryza
- , Manal Salmi
- , Timur Tsintsadze
- , Laura Addis
- , Jacques Motte
- , Sukhvir Wright
- , Vera Tsintsadze
- , Anne Michel
- , Diane Doummar
- , Karine Lascelles
- , Lisa Strug
- , Patrick Waters
- , Julitta de Bellescize
- , Pascal Vrielynck
- , Anne de Saint Martin
- , Dorothee Ville
- , Philippe Ryvlin
- , Alexis Arzimanoglou
- , Edouard Hirsch
- , Angela Vincent
- , Deb Pal
- , Nail Burnashev
- , Damien Sanlaville
- & Pierre Szepetowski
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Research | | Open
Reinforcement of STAT3 activity reprogrammes human embryonic stem cells to naive-like pluripotency
- Hongwei Chen
- , Irène Aksoy
- , Fabrice Gonnot
- , Pierre Osteil
- , Maxime Aubry
- , Claire Hamela
- , Cloé Rognard
- , Arnaud Hochard
- , Sophie Voisin
- , Emeline Fontaine
- , Magali Mure
- , Marielle Afanassieff
- , Elouan Cleroux
- , Sylvain Guibert
- , Jiaxuan Chen
- , Céline Vallot
- , Hervé Acloque
- , Clémence Genthon
- , Cécile Donnadieu
- , John De Vos
- , Damien Sanlaville
- , Jean- François Guérin
- , Michael Weber
- , Lawrence W Stanton
- , Claire Rougeulle
- , Bertrand Pain
- , Pierre-Yves Bourillot
- & Pierre Savatier
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Research |
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
- Sébastien Jacquemont
- , Alexandre Reymond
- , Flore Zufferey
- , Louise Harewood
- , Robin G. Walters
- , Zoltán Kutalik
- , Danielle Martinet
- , Yiping Shen
- , Armand Valsesia
- , Noam D. Beckmann
- , Gudmar Thorleifsson
- , Marco Belfiore
- , Sonia Bouquillon
- , Dominique Campion
- , Nicole de Leeuw
- , Bert B. A. de Vries
- , Tõnu Esko
- , Bridget A. Fernandez
- , Fernando Fernández-Aranda
- , José Manuel Fernández-Real
- , Mònica Gratacòs
- , Audrey Guilmatre
- , Juliane Hoyer
- , Marjo-Riitta Jarvelin
- , R. Frank Kooy
- , Ants Kurg
- , Cédric Le Caignec
- , Katrin Männik
- , Orah S. Platt
- , Damien Sanlaville
- , Mieke M. Van Haelst
- , Sergi Villatoro Gomez
- , Faida Walha
- , Bai-lin Wu
- , Yongguo Yu
- , Azzedine Aboura
- , Marie-Claude Addor
- , Yves Alembik
- , Stylianos E. Antonarakis
- , Benoît Arveiler
- , Magalie Barth
- , Nathalie Bednarek
- , Frédérique Béna
- , Sven Bergmann
- , Mylène Beri
- , Laura Bernardini
- , Bettina Blaumeiser
- , Dominique Bonneau
- , Armand Bottani
- , Odile Boute
- , Han G. Brunner
- , Dorothée Cailley
- , Patrick Callier
- , Jean Chiesa
- , Jacqueline Chrast
- , Lachlan Coin
- , Charles Coutton
- , Jean-Marie Cuisset
- , Jean-Christophe Cuvellier
- , Albert David
- , Bénédicte de Freminville
- , Bruno Delobel
- , Marie-Ange Delrue
- , Bénédicte Demeer
- , Dominique Descamps
- , Gérard Didelot
- , Klaus Dieterich
- , Vittoria Disciglio
- , Martine Doco-Fenzy
- , Séverine Drunat
- , Bénédicte Duban-Bedu
- , Christèle Dubourg
- , Julia S. El-Sayed Moustafa
- , Paul Elliott
- , Brigitte H. W. Faas
- , Laurence Faivre
- , Anne Faudet
- , Florence Fellmann
- , Alessandra Ferrarini
- , Richard Fisher
- , Elisabeth Flori
- , Lukas Forer
- , Dominique Gaillard
- , Marion Gerard
- , Christian Gieger
- , Stefania Gimelli
- , Giorgio Gimelli
- , Hans J. Grabe
- , Agnès Guichet
- , Olivier Guillin
- , Anna-Liisa Hartikainen
- , Délphine Heron
- , Loyse Hippolyte
- , Muriel Holder
- , Georg Homuth
- , Bertrand Isidor
- , Sylvie Jaillard
- , Zdenek Jaros
- , Susana Jiménez-Murcia
- , Géraldine Joly Helas
- , Philippe Jonveaux
- , Satu Kaksonen
- , Boris Keren
- , Anita Kloss-Brandstätter
- , Nine V. A. M. Knoers
- , David A. Koolen
- , Peter M. Kroisel
- , Florian Kronenberg
- , Audrey Labalme
- , Emilie Landais
- , Elisabetta Lapi
- , Valérie Layet
- , Solenn Legallic
- , Bruno Leheup
- , Barbara Leube
- , Suzanne Lewis
- , Josette Lucas
- , Kay D. MacDermot
- , Pall Magnusson
- , Christian Marshall
- , Michèle Mathieu-Dramard
- , Mark I. McCarthy
- , Thomas Meitinger
- , Maria Antonietta Mencarelli
- , Giuseppe Merla
- , Alexandre Moerman
- , Vincent Mooser
- , Fanny Morice-Picard
- , Mafalda Mucciolo
- , Matthias Nauck
- , Ndeye Coumba Ndiaye
- , Ann Nordgren
- , Laurent Pasquier
- , Florence Petit
- , Rolph Pfundt
- , Ghislaine Plessis
- , Evica Rajcan-Separovic
- , Gian Paolo Ramelli
- , Anita Rauch
- , Roberto Ravazzolo
- , Andre Reis
- , Alessandra Renieri
- , Cristobal Richart
- , Janina S. Ried
- , Claudine Rieubland
- , Wendy Roberts
- , Katharina M. Roetzer
- , Caroline Rooryck
- , Massimiliano Rossi
- , Evald Saemundsen
- , Véronique Satre
- , Claudia Schurmann
- , Engilbert Sigurdsson
- , Dimitri J. Stavropoulos
- , Hreinn Stefansson
- , Carola Tengström
- , Unnur Thorsteinsdóttir
- , Francisco J. Tinahones
- , Renaud Touraine
- , Louis Vallée
- , Ellen van Binsbergen
- , Nathalie Van der Aa
- , Catherine Vincent-Delorme
- , Sophie Visvikis-Siest
- , Peter Vollenweider
- , Henry Völzke
- , Anneke T. Vulto-van Silfhout
- , Gérard Waeber
- , Carina Wallgren-Pettersson
- , Robert M. Witwicki
- , Simon Zwolinksi
- , Joris Andrieux
- , Xavier Estivill
- , James F. Gusella
- , Omar Gustafsson
- , Andres Metspalu
- , Stephen W. Scherer
- , Kari Stefansson
- , Alexandra I. F. Blakemore
- , Jacques S. Beckmann
- & Philippe Froguel
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Research |
12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech
- Julien Thevenon
- , Patrick Callier
- , Joris Andrieux
- , Bruno Delobel
- , Albert David
- , Sylvie Sukno
- , Delphine Minot
- , Laure Mosca Anne
- , Nathalie Marle
- , Damien Sanlaville
- , Marlène Bonnet
- , Alice Masurel-Paulet
- , Fabienne Levy
- , Lorraine Gaunt
- , Sandra Farrell
- , Cédric Le Caignec
- , Annick Toutain
- , Virginie Carmignac
- , Francine Mugneret
- , Jill Clayton-Smith
- , Christel Thauvin-Robinet
- & Laurence Faivre
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Reviews |
