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Research | | Open
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Research |
Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20
- Aurélien Juven
- , Sophie Nambot
- , Amélie Piton
- , Nolwenn Jean-Marçais
- , Alice Masurel
- , Patrick Callier
- , Nathalie Marle
- , Anne-Laure Mosca-Boidron
- , Paul Kuentz
- , Christophe Philippe
- , Martin Chevarin
- , Yannis Duffourd
- , Elodie Gautier
- , Arnold Munnich
- , Marlène Rio
- , Sophie Rondeau
- , Salima El Chehadeh
- , Élise Schaefer
- , Bénédicte Gérard
- , Sonia Bouquillon
- , Catherine Vincent Delorme
- , Christine Francannet
- , Fanny Laffargue
- , Laetitia Gouas
- , Bertrand Isidor
- , Marie Vincent
- , Sophie Blesson
- , Fabienne Giuliano
- , Olivier Pichon
- , Cédric Le Caignec
- , Hubert Journel
- , Laurence Perrin-Sabourin
- , Jennifer Fabre-Teste
- , Dominique Martin
- , Gaelle Vieville
- , Klaus Dieterich
- , Didier Lacombe
- , Anne-Sophie Denommé-Pichon
- , Christel Thauvin-Robinet
- & Laurence Faivre
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Research |
2.5 years’ experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases
- 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
- , Aurore Garde
- , Julian Delanne
- , Mathilde Lefebvre
- , François Lecoquierre
- , Detlef Trost
- , Megan Cho
- , Amber Begtrup
- , Aida Telegrafi
- , Pierre Vabres
- , Anne-Laure Mosca-Boidron
- , Patrick Callier
- , Christophe Philippe
- , Laurence Faivre
- & Christel Thauvin-Robinet
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Research | | Open
A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability
- Anne-Laure Mosca-Boidron
- , Lucie Gueneau
- , Guillaume Huguet
- , Alice Goldenberg
- , Céline Henry
- , Nadège Gigot
- , Emilie Pallesi-Pocachard
- , Antonio Falace
- , Laurence Duplomb
- , Julien Thevenon
- , Yannis Duffourd
- , Judith ST-Onge
- , Pascal Chambon
- , Jean-Baptiste Rivière
- , Christel Thauvin-Robinet
- , Patrick Callier
- , Nathalie Marle
- , Muriel Payet
- , Clemence Ragon
- , Hany Goubran Botros
- , Julien Buratti
- , Sophie Calderari
- , Guillaume Dumas
- , Richard Delorme
- , Nathalie Lagarde
- , Jean-Michel Pinoit
- , Antoine Rosier
- , Alice Masurel-Paulet
- , Carlos Cardoso
- , Francine Mugneret
- , Pascale Saugier-Veber
- , Dominique Campion
- , Laurence Faivre
- & Thomas Bourgeron
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Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia
- Marie Cognet
- , Agnés Nougayrede
- , Valérie Malan
- , Patrick Callier
- , Celia Cretolle
- , Laurence Faivre
- , David Genevieve
- , Alice Goldenberg
- , Delphine Heron
- , Sandra Mercier
- , Nicole Philip
- , Sabine Sigaudy
- , Alain Verloes
- , Sabine Sarnacki
- , Arnold Munnich
- , Michel Vekemans
- , Stanislas Lyonnet
- , Heather Etchevers
- , Jeanne Amiel
- & Loïc de Pontual
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Research |
Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans
- Loïc de Pontual
- , Evelyn Yao
- , Patrick Callier
- , Laurence Faivre
- , Valérie Drouin
- , Sandra Cariou
- , Arie Van Haeringen
- , David Geneviève
- , Alice Goldenberg
- , Myriam Oufadem
- , Sylvie Manouvrier
- , Arnold Munnich
- , Joana Alves Vidigal
- , Michel Vekemans
- , Stanislas Lyonnet
- , Alexandra Henrion-Caude
- , Andrea Ventura
- & Jeanne Amiel
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Research |
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Research |
Mutations in CEP57 cause mosaic variegated aneuploidy syndrome
- Katie Snape
- , Sandra Hanks
- , Elise Ruark
- , Patricio Barros-Núñez
- , Anna Elliott
- , Anne Murray
- , Andrew H Lane
- , Nora Shannon
- , Patrick Callier
- , David Chitayat
- , Jill Clayton-Smith
- , David R FitzPatrick
- , David Gisselsson
- , Sebastien Jacquemont
- , Keiko Asakura-Hay
- , Mark A Micale
- , John Tolmie
- , Peter D Turnpenny
- , Michael Wright
- , Jenny Douglas
- & Nazneen Rahman
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Research |
Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests
- 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
- , Pierre Vabres
- , 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
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Research |
Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing
- Ange-Line Bruel
- , Sophie Nambot
- , Virginie Quéré
- , Antonio Vitobello
- , Julien Thevenon
- , Mirna Assoum
- , Sébastien Moutton
- , Nada Houcinat
- , Daphné Lehalle
- , Nolwenn Jean-Marçais
- , Alain Verloès
- , Alexandra Karsenti
- , Alice Goldenberg
- , Aurélia Jacquette
- , Béatrice Jouret
- , Béatrice Laudier
- , Christine Coubes
- , Christine Francannet
- , Daphné Lehalle
- , David Geneviève
- , Delphine Heron
- , Didier Lacombe
- , Elise Schaefer
- , Elodie Lacaze
- , Emmanuel Jacquemin
- , Fabienne Prieur
- , Fanny Laffarge
- , Florence Petit
- , François Feillet
- , Gilles Morin
- , Gwenaëlle Diene
- , James Lespinasse
- , Jeanne Amiel
- , Judith Melki
- , Laëtitia Lambert
- , Laurence Perrin
- , Lucile Pinson
- , Marie-Line Jacquemont
- , Marie-Pierre Cordier-Alex
- , Marine Lebrun
- , Marion Gérard-Blanluet
- , Marjolaine Willems
- , Massimiliano Rossi
- , Nicolas Chassaing
- , Nicole Philip
- , Renaud Touraine
- , Salima El-Chehadeh
- , Séverine Audebert-Bellanger
- , Sophie Blesson
- , Yline Capri
- , Martin Chevarin
- , Thibaud Jouan
- , Charlotte Poë
- , Patrick Callier
- , Emilie Tisserand
- , Christophe Philippe
- , Frédéric Tran Mau Them
- , Yannis Duffourd
- , Laurence Faivre
- & Christel Thauvin-Robinet
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Research | | Open
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants
- Lucilla Pizzo
- , Matthew Jensen
- , Andrew Polyak
- , Jill A. Rosenfeld
- , Katrin Mannik
- , Arjun Krishnan
- , Elizabeth McCready
- , Olivier Pichon
- , Cedric Le Caignec
- , Anke Van Dijck
- , Kate Pope
- , Els Voorhoeve
- , Jieun Yoon
- , Paweł Stankiewicz
- , Sau Wai Cheung
- , Damian Pazuchanics
- , Emily Huber
- , Vijay Kumar
- , Rachel L. Kember
- , Francesca Mari
- , Aurora Curró
- , Lucia Castiglia
- , Ornella Galesi
- , Emanuela Avola
- , Teresa Mattina
- , Marco Fichera
- , Luana Mandarà
- , Marie Vincent
- , Mathilde Nizon
- , Sandra Mercier
- , Claire Bénéteau
- , Sophie Blesson
- , Dominique Martin-Coignard
- , Anne-Laure Mosca-Boidron
- , Jean-Hubert Caberg
- , Maja Bucan
- , Susan Zeesman
- , Małgorzata J. M. Nowaczyk
- , Mathilde Lefebvre
- , Laurence Faivre
- , Patrick Callier
- , Cindy Skinner
- , Boris Keren
- , Charles Perrine
- , Paolo Prontera
- , Nathalie Marle
- , Alessandra Renieri
- , Alexandre Reymond
- , R. Frank Kooy
- , Bertrand Isidor
- , Charles Schwartz
- , Corrado Romano
- , Erik Sistermans
- , David J. Amor
- , Joris Andrieux
- & Santhosh Girirajan
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Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis
- Sophie Nambot
- , Julien Thevenon
- , Paul Kuentz
- , Yannis Duffourd
- , Emilie Tisserant
- , Ange-Line Bruel
- , Anne-Laure Mosca-Boidron
- , Alice Masurel-Paulet
- , Daphné Lehalle
- , Nolwenn Jean-Marçais
- , Mathilde Lefebvre
- , Pierre Vabres
- , Salima El Chehadeh-Djebbar
- , Christophe Philippe
- , Frederic Tran Mau-Them
- , Judith St-Onge
- , Thibaud Jouan
- , Martin Chevarin
- , Charlotte Poé
- , Virginie Carmignac
- , Antonio Vitobello
- , Patrick Callier
- , Jean-Baptiste Rivière
- , Laurence Faivre
- & Christel Thauvin-Robinet
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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 |
Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome
- Angélique Quartier
- , Hélène Poquet
- , Brigitte Gilbert-Dussardier
- , Massimiliano Rossi
- , Anne-Sophie Casteleyn
- , Vincent des Portes
- , Claire Feger
- , Elsa Nourisson
- , Paul Kuentz
- , Claire Redin
- , Julien Thevenon
- , Anne-Laure Mosca-Boidron
- , Patrick Callier
- , Jean Muller
- , Gaetan Lesca
- , Frédéric Huet
- , Véronique Geoffroy
- , Salima El Chehadeh
- , Matthieu Jung
- , Benoit Trojak
- , Stéphanie Le Gras
- , Daphné Lehalle
- , Bernard Jost
- , Stéphanie Maury
- , Alice Masurel
- , Patrick Edery
- , Christel Thauvin-Robinet
- , Bénédicte Gérard
- , Jean-Louis Mandel
- , Laurence Faivre
- & Amélie Piton
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Research |
Development of primary early-onset colorectal cancers due to biallelic mutations of the FANCD1/BRCA2 gene
- Emilie Degrolard-Courcet
- , Joanna Sokolowska
- , Marie-Martine Padeano
- , Séverine Guiu
- , Myriam Bronner
- , Carole Chery
- , Fanny Coron
- , Côme Lepage
- , Caroline Chapusot
- , Catherine Loustalot
- , Jean-Louis Jouve
- , Cyril Hatem
- , Emmanuelle Ferrant
- , Laurent Martin
- , Charles Coutant
- , Amandine Baurand
- , Gérard Couillault
- , Alexandra Delignette
- , Salima El Chehadeh
- , Sarab Lizard
- , Laurent Arnould
- , Pierre Fumoleau
- , Patrick Callier
- , Francine Mugneret
- , Christophe Philippe
- , Thierry Frebourg
- , Philippe Jonveaux
- & Laurence Faivre
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Research |
Heterozygous deletion of the LRFN2 gene is associated with working memory deficits
- Julien Thevenon
- , Céline Souchay
- , Gail K Seabold
- , Inna Dygai-Cochet
- , Patrick Callier
- , Sébastien Gay
- , Lucie Corbin
- , Laurence Duplomb
- , Christel Thauvin-Robinet
- , Alice Masurel-Paulet
- , Salima El Chehadeh
- , Magali Avila
- , Delphine Minot
- , Eric Guedj
- , Sophie Chancenotte
- , Marlène Bonnet
- , Daphne Lehalle
- , Ya-Xian Wang
- , Paul Kuentz
- , Frédéric Huet
- , Anne-Laure Mosca-Boidron
- , Nathalie Marle
- , Ronald S Petralia
- & Laurence Faivre
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Research |
A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH
- Céline Poirsier
- , Justine Besseau-Ayasse
- , Caroline Schluth-Bolard
- , Jérôme Toutain
- , Chantal Missirian
- , Cédric Le Caignec
- , Anne Bazin
- , Marie Christine de Blois
- , Paul Kuentz
- , Marie Catty
- , Agnès Choiset
- , Ghislaine Plessis
- , Audrey Basinko
- , Pascaline Letard
- , Elisabeth Flori
- , Mélanie Jimenez
- , Mylène Valduga
- , Emilie Landais
- , Hakima Lallaoui
- , François Cartault
- , James Lespinasse
- , Dominique Martin-Coignard
- , Patrick Callier
- , Céline Pebrel-Richard
- , Marie-France Portnoi
- , Tiffany Busa
- , Aline Receveur
- , Florence Amblard
- , Catherine Yardin
- , Radu Harbuz
- , Fabienne Prieur
- , Nathalie Le Meur
- , Eva Pipiras
- , Pascale Kleinfinger
- , François Vialard
- & Martine Doco-Fenzy
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Research |
9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping
- Sophie Nambot
- , Alice Masurel
- , Salima El Chehadeh
- , Anne-Laure Mosca-Boidron
- , Christel Thauvin-Robinet
- , Mathilde Lefebvre
- , Nathalie Marle
- , Julien Thevenon
- , Stéphanie Perez-Martin
- , Véronique Dulieu
- , Frédéric Huet
- , Ghislaine Plessis
- , Joris Andrieux
- , Pierre-Simon Jouk
- , Gipsy Billy-Lopez
- , Charles Coutton
- , Fanny Morice-Picard
- , Marie-Ange Delrue
- , Delphine Heron
- , Caroline Rooryck
- , Alice Goldenberg
- , Pascale Saugier-Veber
- , Géraldine Joly-Hélas
- , Patricia Calenda
- , Paul Kuentz
- , Sylvie Manouvrier-Hanu
- , Sophie Dupuis-Girod
- , Patrick Callier
- & Laurence Faivre
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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
-
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
