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Amendments and Corrections |
Erratum: Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly
- Karine Poirier
- , Nicolas Lebrun
- , Loic Broix
- , Guoling Tian
- , Yoann Saillour
- , Cécile Boscheron
- , Elena Parrini
- , Stephanie Valence
- , Benjamin Saint Pierre
- , Madison Oger
- , Didier Lacombe
- , David Geneviève
- , Elena Fontana
- , Franscesca Darra
- , Claude Cances
- , Magalie Barth
- , Dominique Bonneau
- , Bernardo Dalla Bernadina
- , Sylvie N'Guyen
- , Cyril Gitiaux
- , Philippe Parent
- , Vincent des Portes
- , Jean Michel Pedespan
- , Victoire Legrez
- , Laetitia Castelnau-Ptakine
- , Patrick Nitschke
- , Thierry Hieu
- , Cecile Masson
- , Diana Zelenika
- , Annie Andrieux
- , Fiona Francis
- , Renzo Guerrini
- , Nicholas J Cowan
- , Nadia Bahi-Buisson
- & Jamel Chelly
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Research |
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Research |
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A large-scale mutation search reveals genetic heterogeneity in 3M syndrome
- Céline Huber
- , Anee-Lise Delezoide
- , Fabien Guimiot
- , Clarisse Baumann
- , Valérie Malan
- , Martine Le Merrer
- , Daniela Bezerra Da Silva
- , Dominique Bonneau
- , Pierre Chatelain
- , Carol Chu
- , Robin Clark
- , Helen Cox
- , Patrick Edery
- , Thomas Edouard
- , Virginia Fano
- , Kate Gibson
- , Gabriele Gillessen-Kaesbach
- , Maria-Luisa Giovannucci-Uzielli
- , Luitgard Margarete Graul-Neumann
- , Johana-Maria van Hagen
- , Liselot van Hest
- , Dafne Horovitz
- , Judith Melki
- , Carl-Joachim Partsch
- , Henry Plauchu
- , Anna Rajab
- , Massimiliano Rossi
- , David Sillence
- , Elisabeth Steichen-Gersdorf
- , Helen Stewart
- , Sheila Unger
- , Martin Zenker
- , Arnold Munnich
- & Valérie Cormier-Daire
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Research |
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Research |
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Research |
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome
- Tetsuya Niihori
- , Yoko Aoki
- , Yoko Narumi
- , Giovanni Neri
- , Hélène Cavé
- , Alain Verloes
- , Nobuhiko Okamoto
- , Raoul C M Hennekam
- , Gabriele Gillessen-Kaesbach
- , Dagmar Wieczorek
- , Maria Ines Kavamura
- , Kenji Kurosawa
- , Hirofumi Ohashi
- , Louise Wilson
- , Delphine Heron
- , Dominique Bonneau
- , Giuseppina Corona
- , Tadashi Kaname
- , Kenji Naritomi
- , Clarisse Baumann
- , Naomichi Matsumoto
- , Kumi Kato
- , Shigeo Kure
- & Yoichi Matsubara
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Research |
Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families
- Louis Viollet
- , Mohammed Zarhrate
- , Isabelle Maystadt
- , Brigitte Estournet-Mathiaut
- , Annie Barois
- , Isabelle Desguerre
- , Michèle Mayer
- , Brigitte Chabrol
- , Bruno LeHeup
- , Veronica Cusin
- , Thierry Billette de Villemeur
- , Dominique Bonneau
- , Pascale Saugier-Veber
- , Anne Touzery-de Villepin
- , Anne Delaubier
- , Jocelyne Kaplan
- , Marc Jeanpierre
- , Joshué Feingold
- & Arnold Munnich
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Research |
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Amendments and Corrections |
Correction: Corrigendum: BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus
- Corinne Stoetzel
- , Virginie Laurier
- , Erica E Davis
- , Jean Muller
- , Suzanne Rix
- , José L Badano
- , Carmen C Leitch
- , Nabiha Salem
- , Eliane Chouery
- , Sandra Corbani
- , Nadine Jalk
- , Serge Vicaire
- , Pierre Sarda
- , Christian Hamel
- , Didier Lacombe
- , Muriel Holder
- , Sylvie Odent
- , Susan Holder
- , Alice S Brooks
- , Nursel H Elcioglu
- , Eduardo D Silva
- , Béatrice Rossillion
- , Sabine Sigaudy
- , Thomy J L de Ravel
- , Richard Alan Lewis
- , Bruno Leheup
- , Alain Verloes
- , Patrizia Amati-Bonneau
- , André Mégarbané
- , Olivier Poch
- , Dominique Bonneau
- , Philip L Beales
- , Jean-Louis Mandel
- , Nicholas Katsanis
- & Hélène Dollfus
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Research |
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Research |
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Research |
Testing for triallelism: analysis of six BBS genes in a Bardet–Biedl syndrome family cohort
- Haifa Hichri
- , Corinne Stoetzel
- , Virginie Laurier
- , Solenne Caron
- , Sabine Sigaudy
- , Pierre Sarda
- , Christian Hamel
- , Dominique Martin-Coignard
- , Morin Gilles
- , Bruno Leheup
- , Mureille Holder
- , Josseline Kaplan
- , Pierre Bitoun
- , Didier Lacombe
- , Alain Verloes
- , Dominique Bonneau
- , Fabienne Perrin-Schmitt
- , Christian Brandt
- , Anne-Françoise Besancon
- , Jean-Louis Mandel
- , Mireille Cossée
- & Hélène Dollfus
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Research |
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus
- Corinne Stoetzel
- , Virginie Laurier
- , Erica E Davis
- , Jean Muller
- , Suzanne Rix
- , José L Badano
- , Carmen C Leitch
- , Nabiha Salem
- , Eliane Chouery
- , Sandra Corbani
- , Nadine Jalk
- , Serge Vicaire
- , Pierre Sarda
- , Christian Hamel
- , Didier Lacombe
- , Muriel Holder
- , Sylvie Odent
- , Susan Holder
- , Alice S Brooks
- , Nursel H Elcioglu
- , Eduardo D Silva
- , Béatrice Rossillion
- , Sabine Sigaudy
- , Thomy J L de Ravel
- , Richard Alan Lewis
- , Bruno Leheup
- , Alain Verloes
- , Patrizia Amati-Bonneau
- , André Mégarbané
- , Olivier Poch
- , Dominique Bonneau
- , Philip L Beales
- , Jean-Louis Mandel
- , Nicholas Katsanis
- & Hélène Dollfus
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Research |
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder
- Ghayda M. Mirzaa
- , Jessica X. Chong
- , Amélie Piton
- , Bernt Popp
- , Kimberly Foss
- , Hui Guo
- , Ricardo Harripaul
- , Kun Xia
- , Joshua Scheck
- , Kimberly A. Aldinger
- , Samin A. Sajan
- , Sha Tang
- , Dominique Bonneau
- , Anita Beck
- , Janson White
- , Sonal Mahida
- , Jacqueline Harris
- , Constance Smith-Hicks
- , Juliane Hoyer
- , Christiane Zweier
- , André Reis
- , Christian T. Thiel
- , Rami Abou Jamra
- , Natasha Zeid
- , Amy Yang
- , Laura S. Farach
- , Laurence Walsh
- , Katelyn Payne
- , Luis Rohena
- , Milen Velinov
- , Alban Ziegler
- , Elise Schaefer
- , Vincent Gatinois
- , David Geneviève
- , Marleen E. H. Simon
- , Jennefer Kohler
- , Joshua Rotenberg
- , Patricia Wheeler
- , Austin Larson
- , Michelle E. Ernst
- , Cigdem I. Akman
- , Rachel Westman
- , Patricia Blanchet
- , Lori-Anne Schillaci
- , Catherine Vincent-Delorme
- , Karen W. Gripp
- , Francesca Mattioli
- , Gwenaël Le Guyader
- , Bénédicte Gerard
- , Michèle Mathieu-Dramard
- , Gilles Morin
- , Roksana Sasanfar
- , Muhammad Ayub
- , Nasim Vasli
- , Sandra Yang
- , Rick Person
- , Kristin G. Monaghan
- , Deborah A. Nickerson
- , Ellen van Binsbergen
- , Gregory M. Enns
- , Annika M. Dries
- , Leah J. Rowe
- , Anne C. H. Tsai
- , Shayna Svihovec
- , Jennifer Friedman
- , Zehra Agha
- , Raheel Qamar
- , Lance H. Rodan
- , Julian Martinez-Agosto
- , Charlotte W. Ockeloen
- , Marie Vincent
- , William James Sunderland
- , Jonathan A. Bernstein
- , Evan E. Eichler
- , John B. Vincent
- & Michael J. Bamshad
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Research | | Open
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
- Vincenzo Salpietro
- , Christine L. Dixon
- , Hui Guo
- , Oscar D. Bello
- , Jana Vandrovcova
- , Stephanie Efthymiou
- , Reza Maroofian
- , Gali Heimer
- , Lydie Burglen
- , Stephanie Valence
- , Erin Torti
- , Moritz Hacke
- , Julia Rankin
- , Huma Tariq
- , Estelle Colin
- , Vincent Procaccio
- , Pasquale Striano
- , Kshitij Mankad
- , Andreas Lieb
- , Sharon Chen
- , Laura Pisani
- , Conceicao Bettencourt
- , Roope Männikkö
- , Andreea Manole
- , Alfredo Brusco
- , Enrico Grosso
- , Giovanni Battista Ferrero
- , Judith Armstrong-Moron
- , Sophie Gueden
- , Omer Bar-Yosef
- , Michal Tzadok
- , Kristin G. Monaghan
- , Teresa Santiago-Sim
- , Richard E. Person
- , Megan T. Cho
- , Rebecca Willaert
- , Yongjin Yoo
- , Jong-Hee Chae
- , Yingting Quan
- , Huidan Wu
- , Tianyun Wang
- , Raphael A. Bernier
- , Kun Xia
- , Alyssa Blesson
- , Mahim Jain
- , Mohammad M. Motazacker
- , Bregje Jaeger
- , Amy L. Schneider
- , Katja Boysen
- , Alison M. Muir
- , Candace T. Myers
- , Ralitza H. Gavrilova
- , Lauren Gunderson
- , Laura Schultz-Rogers
- , Eric W. Klee
- , David Dyment
- , Matthew Osmond
- , Mara Parellada
- , Cloe Llorente
- , Javier Gonzalez-Peñas
- , Angel Carracedo
- , Arie Van Haeringen
- , Claudia Ruivenkamp
- , Caroline Nava
- , Delphine Heron
- , Rosaria Nardello
- , Michele Iacomino
- , Carlo Minetti
- , Aldo Skabar
- , Antonella Fabretto
- , Michael G. Hanna
- , Enrico Bugiardini
- , Isabel Hostettler
- , Benjamin O’Callaghan
- , Alaa Khan
- , Andrea Cortese
- , Emer O’Connor
- , Wai Y. Yau
- , Thomas Bourinaris
- , Rauan Kaiyrzhanov
- , Viorica Chelban
- , Monika Madej
- , Maria C. Diana
- , Maria S. Vari
- , Marina Pedemonte
- , Claudio Bruno
- , Ganna Balagura
- , Marcello Scala
- , Chiara Fiorillo
- , Lino Nobili
- , Nancy T. Malintan
- , Maria N. Zanetti
- , Shyam S. Krishnakumar
- , Gabriele Lignani
- , James E. C. Jepson
- , Paolo Broda
- , Simona Baldassari
- , Pia Rossi
- , Floriana Fruscione
- , Francesca Madia
- , Monica Traverso
- , Patrizia De-Marco
- , Belen Pérez-Dueñas
- , Francina Munell
- , Yamna Kriouile
- , Mohamed El-Khorassani
- , Blagovesta Karashova
- , Daniela Avdjieva
- , Hadil Kathom
- , Radka Tincheva
- , Lionel Van-Maldergem
- , Wolfgang Nachbauer
- , Sylvia Boesch
- , Antonella Gagliano
- , Elisabetta Amadori
- , Jatinder S. Goraya
- , Tipu Sultan
- , Salman Kirmani
- , Shahnaz Ibrahim
- , Farida Jan
- , Jun Mine
- , Selina Banu
- , Pierangelo Veggiotti
- , Gian V. Zuccotti
- , Michel D. Ferrari
- , Arn M. J. Van Den Maagdenberg
- , Alberto Verrotti
- , Gian L. Marseglia
- , Salvatore Savasta
- , Miguel A. Soler
- , Carmela Scuderi
- , Eugenia Borgione
- , Roberto Chimenz
- , Eloisa Gitto
- , Valeria Dipasquale
- , Alessia Sallemi
- , Monica Fusco
- , Caterina Cuppari
- , Maria C. Cutrupi
- , Martino Ruggieri
- , Armando Cama
- , Valeria Capra
- , Niccolò E. Mencacci
- , Richard Boles
- , Neerja Gupta
- , Madhulika Kabra
- , Savvas Papacostas
- , Eleni Zamba-Papanicolaou
- , Efthymios Dardiotis
- , Shazia Maqbool
- , Nuzhat Rana
- , Osama Atawneh
- , Shen Y. Lim
- , Farooq Shaikh
- , George Koutsis
- , Marianthi Breza
- , Domenico A. Coviello
- , Yves A. Dauvilliers
- , Issam AlKhawaja
- , Mariam AlKhawaja
- , Fuad Al-Mutairi
- , Tanya Stojkovic
- , Veronica Ferrucci
- , Massimo Zollo
- , Fowzan S. Alkuraya
- , Maria Kinali
- , Hamed Sherifa
- , Hanene Benrhouma
- , Ilhem B. Y. Turki
- , Meriem Tazir
- , Makram Obeid
- , Sophia Bakhtadze
- , Nebal W. Saadi
- , Maha S. Zaki
- , Chahnez C. Triki
- , Fabio Benfenati
- , Stefano Gustincich
- , Majdi Kara
- , Vincenzo Belcastro
- , Nicola Specchio
- , Giuseppe Capovilla
- , Ehsan G. Karimiani
- , Ahmed M. Salih
- , Njideka U. Okubadejo
- , Oluwadamilola O. Ojo
- , Olajumoke O. Oshinaike
- , Olapeju Oguntunde
- , Kolawole Wahab
- , Abiodun H. Bello
- , Sanni Abubakar
- , Yahaya Obiabo
- , Ernest Nwazor
- , Oluchi Ekenze
- , Uduak Williams
- , Alagoma Iyagba
- , Lolade Taiwo
- , Morenikeji Komolafe
- , Konstantin Senkevich
- , Chingiz Shashkin
- , Nazira Zharkynbekova
- , Kairgali Koneyev
- , Ganieva Manizha
- , Maksud Isrofilov
- , Ulviyya Guliyeva
- , Kamran Salayev
- , Samson Khachatryan
- , Salvatore Rossi
- , Gabriella Silvestri
- , Nourelhoda Haridy
- , Luca A. Ramenghi
- , Georgia Xiromerisiou
- , Emanuele David
- , Mhammed Aguennouz
- , Liana Fidani
- , Cleanthe Spanaki
- , Arianna Tucci
- , Miquel Raspall-Chaure
- , Michael Chez
- , Anne Tsai
- , Emily Fassi
- , Marwan Shinawi
- , John N. Constantino
- , Rita De Zorzi
- , Sara Fortuna
- , Fernando Kok
- , Boris Keren
- , Dominique Bonneau
- , Murim Choi
- , Bruria Benzeev
- , Federico Zara
- , Heather C. Mefford
- , Ingrid E. Scheffer
- , Jill Clayton-Smith
- , Alfons Macaya
- , James E. Rothman
- , Evan E. Eichler
- , Dimitri M. Kullmann
- & Henry Houlden
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Research | | Open
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum
- Enrico D. H. Konrad
- , Niels Nardini
- , Almuth Caliebe
- , Inga Nagel
- , Dana Young
- , Gabriella Horvath
- , Stephanie L. Santoro
- , Christine Shuss
- , Alban Ziegler
- , Dominique Bonneau
- , Marlies Kempers
- , Rolph Pfundt
- , Eric Legius
- , Arjan Bouman
- , Kyra E. Stuurman
- , Katrin Õunap
- , Sander Pajusalu
- , Monica H. Wojcik
- , Georgia Vasileiou
- , Gwenaël Le Guyader
- , Hege M. Schnelle
- , Siren Berland
- , Evelien Zonneveld-Huijssoon
- , Simone Kersten
- , Aditi Gupta
- , Patrick R. Blackburn
- , Marissa S. Ellingson
- , Matthew J. Ferber
- , Radhika Dhamija
- , Eric W. Klee
- , Meriel McEntagart
- , Klaske D. Lichtenbelt
- , Amy Kenney
- , Samantha A. Vergano
- , Rami Abou Jamra
- , Konrad Platzer
- , Mary Ella Pierpont
- , Divya Khattar
- , Robert J. Hopkin
- , Richard J. Martin
- , Marjolijn C. J. Jongmans
- , Vivian Y. Chang
- , Julian A. Martinez-Agosto
- , Outi Kuismin
- , Mitja I. Kurki
- , Olli Pietiläinen
- , Aarno Palotie
- , Timothy J. Maarup
- , Diana S. Johnson
- , Katja Venborg Pedersen
- , Lone W. Laulund
- , Sally A. Lynch
- , Moira Blyth
- , Katrina Prescott
- , Natalie Canham
- , Rita Ibitoye
- , Eva H. Brilstra
- , Marwan Shinawi
- , Emily Fassi
- , Heinrich Sticht
- , Anne Gregor
- , Hilde Van Esch
- & Christiane Zweier
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Research |
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Research | | Open
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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 |
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly
- Karine Poirier
- , Nicolas Lebrun
- , Loic Broix
- , Guoling Tian
- , Yoann Saillour
- , Cécile Boscheron
- , Elena Parrini
- , Stephanie Valence
- , Benjamin Saint Pierre
- , Madison Oger
- , Didier Lacombe
- , David Geneviève
- , Elena Fontana
- , Franscesca Darra
- , Claude Cances
- , Magalie Barth
- , Dominique Bonneau
- , Bernardo Dalla Bernadina
- , Sylvie N'Guyen
- , Cyril Gitiaux
- , Philippe Parent
- , Vincent des Portes
- , Jean Michel Pedespan
- , Victoire Legrez
- , Laetitia Castelnau-Ptakine
- , Patrick Nitschke
- , Thierry Hieu
- , Cecile Masson
- , Diana Zelenika
- , Annie Andrieux
- , Fiona Francis
- , Renzo Guerrini
- , Nicholas J Cowan
- , Nadia Bahi-Buisson
- & Jamel Chelly
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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 |
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome
- Laura Crisponi
- , Manila Deiana
- , Angela Loi
- , Francesca Chiappe
- , Manuela Uda
- , Patrizia Amati
- , Luigi Bisceglia
- , Leopoldo Zelante
- , Ramaiah Nagaraja
- , Susanna Porcu
- , M. Serafina Ristaldi
- , Rosalia Marzella
- , Mariano Rocchi
- , Marc Nicolino
- , Anne Lienhardt-Roussie
- , Annie Nivelon
- , Alain Verloes
- , David Schlessinger
- , Paolo Gasparini
- , Dominique Bonneau
- , Antonio Cao
- & Giuseppe Pilia
-
Research |
