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Amendments and Corrections | | Open
Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
- Cyril Mignot
- , Aoife C. McMahon
- , Claire Bar
- , Philippe M. Campeau
- , Claire Davidson
- , Julien Buratti
- , Caroline Nava
- , Marie-Line Jacquemont
- , Marilyn Tallot
- , Mathieu Milh
- , Patrick Edery
- , Pauline Marzin
- , Giulia Barcia
- , Christine Barnerias
- , Claude Besmond
- , Thierry Bienvenu
- , Ange-Line Bruel
- , Ledia Brunga
- , Berten Ceulemans
- , Christine Coubes
- , Ana G. Cristancho
- , Fiona Cunningham
- , Marie-Bertille Dehouck
- , Elizabeth J. Donner
- , Bénédicte Duban-Bedu
- , Christèle Dubourg
- , Elena Gardella
- , Julie Gauthier
- , David Geneviève
- , Stéphanie Gobin-Limballe
- , Ethan M. Goldberg
- , Eveline Hagebeuk
- , Fadi F. Hamdan
- , Miroslava Hančárová
- , Laurence Hubert
- , Christine Ioos
- , Shoji Ichikawa
- , Sandra Janssens
- , Hubert Journel
- , Anna Kaminska
- , Boris Keren
- , Marije Koopmans
- , Caroline Lacoste
- , Petra Laššuthová
- , Damien Lederer
- , Daphné Lehalle
- , Dragan Marjanovic
- , Julia Métreau
- , Jacques L. Michaud
- , Kathryn Miller
- , Berge A. Minassian
- , Joannella Morales
- , Marie-Laure Moutard
- , Arnold Munnich
- , Xilma R. Ortiz-Gonzalez
- , Jean-Marc Pinard
- , Darina Prchalová
- , Audrey Putoux
- , Chloé Quelin
- , Alyssa R. Rosen
- , Joelle Roume
- , Elsa Rossignol
- , Marleen E. H. Simon
- , Thomas Smol
- , Natasha Shur
- , Ivan Shelihan
- , Katalin Štěrbová
- , Emílie Vyhnálková
- , Catheline Vilain
- , Julie Soblet
- , Guillaume Smits
- , Samuel P. Yang
- , Jasper J. van der Smagt
- , Peter M. van Hasselt
- , Marjan van Kempen
- , Sarah Weckhuysen
- , Ingo Helbig
- , Laurent Villard
- , Delphine Héron
- , Bobby Koeleman
- , Rikke S. Møller
- , Gaetan Lesca
- , Katherine L. Helbig
- , Rima Nabbout
- , Nienke E. Verbeek
- & Christel Depienne
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Research |
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Research |
19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference
- Aurélien Trimouille
- , Nada Houcinat
- , Marie-Laure Vuillaume
- , Patricia Fergelot
- , Cécile Boucher
- , Jérôme Toutain
- , Cédric Le Caignec
- , Marie Vincent
- , Mathilde Nizon
- , Joris Andrieux
- , Clémence Vanlerberghe
- , Bruno Delobel
- , Bénédicte Duban
- , Sahar Mansour
- , Emma Baple
- , Colina McKeown
- , Gemma Poke
- , Kate Robertshaw
- , Eve Fifield
- , Antonella Fabretto
- , Vanna Pecile
- , Paolo Gasparini
- , Marco Carrozzi
- , Didier Lacombe
- , Benoît Arveiler
- , Caroline Rooryck
- & Sébastien Moutton
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Research |
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Research | | Open
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
- Cyril Mignot
- , Aoife C. McMahon
- , Claire Bar
- , Philippe M Campeau
- , Claire Davidson
- , Julien Buratti
- , Caroline Nava
- , Marie-Line Jacquemont
- , Marilyn Tallot
- , Mathieu Milh
- , Patrick Edery
- , Pauline Marzin
- , Giulia Barcia
- , Christine Barnerias
- , Claude Besmond
- , Thierry Bienvenu
- , Ange-Line Bruel
- , Ledia Brunga
- , Berten Ceulemans
- , Christine Coubes
- , Ana G. Cristancho
- , Fiona Cunningham
- , Marie-Bertille Dehouck
- , Elizabeth J. Donner
- , Bénédicte Duban-Bedu
- , Christèle Dubourg
- , Elena Gardella
- , Julie Gauthier
- , David Geneviève
- , Stéphanie Gobin-Limballe
- , Ethan M. Goldberg
- , Eveline Hagebeuk
- , Fadi F. Hamdan
- , Miroslava Hančárová
- , Laurence Hubert
- , Christine Ioos
- , Shoji Ichikawa
- , Sandra Janssens
- , Hubert Journel
- , Anna Kaminska
- , Boris Keren
- , Marije Koopmans
- , Caroline Lacoste
- , Petra Laššuthová
- , Damien Lederer
- , Daphné Lehalle
- , Dragan Marjanovic
- , Julia Métreau
- , Jacques L. Michaud
- , Kathryn Miller
- , Berge A. Minassian
- , Joannella Morales
- , Marie-Laure Moutard
- , Arnold Munnich
- , Xilma R. Ortiz-Gonzalez
- , Jean-Marc Pinard
- , Darina Prchalová
- , Audrey Putoux
- , Chloé Quelin
- , Alyssa R. Rosen
- , Joelle Roume
- , Elsa Rossignol
- , Marleen E. H. Simon
- , Thomas Smol
- , Natasha Shur
- , Ivan Shelihan
- , Katalin Štěrbová
- , Emílie Vyhnálková
- , Catheline Vilain
- , Julie Soblet
- , Guillaume Smits
- , Samuel P. Yang
- , Jasper J. van der Smagt
- , Peter M. van Hasselt
- , Marjan van Kempen
- , Sarah Weckhuysen
- , Ingo Helbig
- , Laurent Villard
- , Delphine Héron
- , Bobby Koeleman
- , Rikke S. Møller
- , Gaetan Lesca
- , Katherine L. Helbig
- , Rima Nabbout
- , Nienke E. Verbeek
- & Christel Depienne
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Research |
TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons
- Xavier Caubit
- , Paolo Gubellini
- , Joris Andrieux
- , Pierre L Roubertoux
- , Mehdi Metwaly
- , Bernard Jacq
- , Ahmed Fatmi
- , Laurence Had-Aissouni
- , Kenneth Y Kwan
- , Pascal Salin
- , Michèle Carlier
- , Agne Liedén
- , Eva Rudd
- , Marwan Shinawi
- , Catherine Vincent-Delorme
- , Jean-Marie Cuisset
- , Marie-Pierre Lemaitre
- , Fatimetou Abderrehamane
- , Bénédicte Duban
- , Jean-François Lemaitre
- , Adrian S Woolf
- , Detlef Bockenhauer
- , Dany Severac
- , Emeric Dubois
- , Ying Zhu
- , Nenad Sestan
- , Alistair N Garratt
- , Lydia Kerkerian-Le Goff
- & Laurent Fasano
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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 |
PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome
- Julián Nevado
- , Jill A Rosenfeld
- , Rocío Mena
- , María Palomares-Bralo
- , Elena Vallespín
- , María Ángeles Mori
- , Jair A Tenorio
- , Karen W Gripp
- , Elizabeth Denenberg
- , Miguel del Campo
- , Alberto Plaja
- , Rubén Martín-Arenas
- , Fernando Santos-Simarro
- , Lluis Armengol
- , Gordon Gowans
- , María Orera
- , M Carmen Sanchez-Hombre
- , Esther Corbacho-Fernández
- , Alberto Fernández-Jaén
- , Chad Haldeman-Englert
- , Sulagna Saitta
- , Holly Dubbs
- , Duban B Bénédicte
- , Xia Li
- , Lani Devaney
- , Mary Beth Dinulos
- , Stephanie Vallee
- , M Carmen Crespo
- , Blanca Fernández
- , Victoria E Fernández-Montaño
- , Inmaculada Rueda-Arenas
- , María Luisa de Torres
- , Jay W Ellison
- , Salmo Raskin
- , Carlos A Venegas-Vega
- , Fernando Fernández-Ramírez
- , Alicia Delicado
- , Sixto García-Miñaúr
- & Pablo Lapunzina
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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
