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Correspondence |
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Amendments and Corrections |
Erratum: Myhre and LAPS syndromes: clinical and molecular review of 32 patients
- Caroline Michot
- , Carine Le Goff
- , Clémentine Mahaut
- , Alexandra Afenjar
- , Alice S Brooks
- , Philippe M Campeau
- , Anne Destree
- , Maja Di Rocco
- , Dian Donnai
- , Raoul Hennekam
- , Delphine Heron
- , Sébastien Jacquemont
- , Peter Kannu
- , Angela E Lin
- , Sylvie Manouvrier-Hanu
- , Sahar Mansour
- , Sandrine Marlin
- , Ruth McGowan
- , Helen Murphy
- , Annick Raas-Rothschild
- , Marléne Rio
- , Marleen Simon
- , Irene Stolte-Dijkstra
- , James R Stone
- , Yves Sznajer
- , John Tolmie
- , Renaud Touraine
- , Jenneke van den Ende
- , Nathalie Van der Aa
- , Ton van Essen
- , Alain Verloes
- , Arnold Munnich
- & Valérie Cormier-Daire
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Research |
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Research |
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Research |
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Research |
Myhre and LAPS syndromes: clinical and molecular review of 32 patients
- Caroline Michot
- , Carine Le Goff
- , Clémentine Mahaut
- , Alexandra Afenjar
- , Alice S Brooks
- , Philippe M Campeau
- , Anne Destree
- , Maja Di Rocco
- , Dian Donnai
- , Raoul Hennekam
- , Delphine Heron
- , Sébastien Jacquemont
- , Peter Kannu
- , Angela E Lin
- , Sylvie Manouvrier-Hanu
- , Sahar Mansour
- , Sandrine Marlin
- , Ruth McGowan
- , Helen Murphy
- , Annick Raas-Rothschild
- , Marlène Rio
- , Marleen Simon
- , Irene Stolte-Dijkstra
- , James R Stone
- , Yves Sznajer
- , John Tolmie
- , Renaud Touraine
- , Jenneke van den Ende
- , Nathalie Van der Aa
- , Ton van Essen
- , Alain Verloes
- , Arnold Munnich
- & Valérie Cormier-Daire
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Research |
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Research |
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Research | | Open
The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer
- Gisella Figlioli
- , Massimo Bogliolo
- , Irene Catucci
- , Laura Caleca
- , Sandra Viz Lasheras
- , Roser Pujol
- , Johanna I. Kiiski
- , Taru A. Muranen
- , Daniel R. Barnes
- , Joe Dennis
- , Kyriaki Michailidou
- , Manjeet K. Bolla
- , Goska Leslie
- , Cora M. Aalfs
- , Rosemary Balleine
- , Robert Baxter
- , Stephen Braye
- , Jane Carpenter
- , Jane Dahlstrom
- , John Forbes
- , C. Soon Lee
- , Deborah Marsh
- , Adrienne Morey
- , Nirmala Pathmanathan
- , Rodney Scott
- , Peter Simpson
- , Allan Spigelman
- , Nicholas Wilcken
- , Desmond Yip
- , Nikolajs Zeps
- , Muriel A. Adank
- , Julian Adlard
- , Simona Agata
- , Karen Cadoo
- , Bjarni A. Agnarsson
- , Thomas Ahearn
- , Kristiina Aittomäki
- , Christine B. Ambrosone
- , Lesley Andrews
- , Hoda Anton-Culver
- , Natalia N. Antonenkova
- , Volker Arndt
- , Norbert Arnold
- , Kristan J. Aronson
- , Banu K. Arun
- , Ella Asseryanis
- , Bernd Auber
- , Päivi Auvinen
- , Jacopo Azzollini
- , Judith Balmaña
- , Rosa B. Barkardottir
- , Daniel Barrowdale
- , Julian Barwell
- , Laura E. Beane Freeman
- , Charles Joly Beauparlant
- , Matthias W. Beckmann
- , Sabine Behrens
- , Javier Benitez
- , Raanan Berger
- , Marina Bermisheva
- , Amie M. Blanco
- , Carl Blomqvist
- , Natalia V. Bogdanova
- , Anders Bojesen
- , Stig E. Bojesen
- , Bernardo Bonanni
- , Ake Borg
- , Angela F. Brady
- , Hiltrud Brauch
- , Hermann Brenner
- , Thomas Brüning
- , Barbara Burwinkel
- , Saundra S. Buys
- , Trinidad Caldés
- , Almuth Caliebe
- , Maria A. Caligo
- , Daniele Campa
- , Ian G. Campbell
- , Federico Canzian
- , Jose E. Castelao
- , Jenny Chang-Claude
- , Stephen J. Chanock
- , Kathleen B. M. Claes
- , Christine L. Clarke
- , Anita Collavoli
- , Thomas A. Conner
- , David G. Cox
- , Cezary Cybulski
- , Kamila Czene
- , Mary B. Daly
- , Miguel de la Hoya
- , Peter Devilee
- , Orland Diez
- , Yuan Chun Ding
- , Gillian S. Dite
- , Nina Ditsch
- , Susan M. Domchek
- , Cecilia M. Dorfling
- , Isabel dos-Santos-Silva
- , Katarzyna Durda
- , Miriam Dwek
- , Diana M. Eccles
- , Arif B. Ekici
- , A. Heather Eliassen
- , Carolina Ellberg
- , Mikael Eriksson
- , D. Gareth Evans
- , Peter A. Fasching
- , Jonine Figueroa
- , Henrik Flyger
- , William D. Foulkes
- , Tara M. Friebel
- , Eitan Friedman
- , Marike Gabrielson
- , Pragna Gaddam
- , Manuela Gago-Dominguez
- , Chi Gao
- , Susan M. Gapstur
- , Judy Garber
- , Montserrat García-Closas
- , José A. García-Sáenz
- , Mia M. Gaudet
- , Simon A. Gayther
- , Muriel Belotti
- , Ophélie Bertrand
- , Anne-Marie Birot
- , Bruno Buecher
- , Sandrine Caputo
- , Anaïs Dupré
- , Emmanuelle Fourme
- , Marion Gauthier-Villars
- , Lisa Golmard
- , Marine Le Mentec
- , Virginie Moncoutier
- , Antoine de Pauw
- , Claire Saule
- , Nadia Boutry-Kryza
- , Alain Calender
- , Sophie Giraud
- , Mélanie Léone
- , Brigitte Bressac-de-Paillerets
- , Olivier Caron
- , Marine Guillaud-Bataille
- , Yves-Jean Bignon
- , Nancy Uhrhammer
- , Valérie Bonadona
- , Christine Lasset
- , Pascaline Berthet
- , Laurent Castera
- , Dominique Vaur
- , Violaine Bourdon
- , Catherine Noguès
- , Tetsuro Noguchi
- , Cornel Popovici
- , Audrey Remenieras
- , Hagay Sobol
- , Isabelle Coupier
- , Pascal Pujol
- , Claude Adenis
- , Aurélie Dumont
- , Françoise Révillion
- , Danièle Muller
- , Emmanuelle Barouk-Simonet
- , Françoise Bonnet
- , Virginie Bubien
- , Michel Longy
- , Nicolas Sevenet
- , Laurence Gladieff
- , Rosine Guimbaud
- , Viviane Feillel
- , Christine Toulas
- , Hélène Dreyfus
- , Christine Dominique Leroux
- , Magalie Peysselon
- , Christine Rebischung
- , Clémentine Legrand
- , Amandine Baurand
- , Geoffrey Bertolone
- , Fanny Coron
- , Laurence Faivre
- , Caroline Jacquot
- , Sarab Lizard
- , Caroline Kientz
- , Marine Lebrun
- , Fabienne Prieur
- , Sandra Fert-Ferrer
- , Véronique Mari
- , Laurence Vénat-Bouvet
- , Stéphane Bézieau
- , Capucine Delnatte
- , Isabelle Mortemousque
- , Chrystelle Colas
- , Florence Coulet
- , Florent Soubrier
- , Mathilde Warcoin
- , Myriam Bronner
- , Johanna Sokolowska
- , Marie-Agnès Collonge-Rame
- , Alexandre Damette
- , Paul Gesta
- , Hakima Lallaoui
- , Jean Chiesa
- , Denise Molina-Gomes
- , Olivier Ingster
- , Sylvie Manouvrier-Hanu
- , Sophie Lejeune
- , Graham G. Giles
- , Gord Glendon
- , Andrew K. Godwin
- , Mark S. Goldberg
- , David E. Goldgar
- , Pascal Guénel
- , Angelica M. Gutierrez-Barrera
- , Lothar Haeberle
- , Christopher A. Haiman
- , Niclas Håkansson
- , Per Hall
- , Ute Hamann
- , Patricia A. Harrington
- , Alexander Hein
- , Jane Heyworth
- , Peter Hillemanns
- , Antoinette Hollestelle
- , John L. Hopper
- , H. Dean Hosgood III
- , Anthony Howell
- , Chunling Hu
- , Peter J. Hulick
- , David J. Hunter
- , Evgeny N. Imyanitov
- , Morteza Aghmesheh
- , Sian Greening
- , David Amor
- , Mike Gattas
- , Leon Botes
- , Michael Buckley
- , Michael Friedlander
- , Jessica Koehler
- , Bettina Meiser
- , Mona Saleh
- , Elizabeth Salisbury
- , Alison Trainer
- , Kathy Tucker
- , Yoland Antill
- , Alexander Dobrovic
- , Andrew Fellows
- , Stephen Fox
- , Marion Harris
- , Sophie Nightingale
- , Kelly Phillips
- , Joe Sambrook
- , Heather Thorne
- , Shane Armitage
- , Leanne Arnold
- , Rosemary Balleine
- , Rick Kefford
- , Judy Kirk
- , Edwina Rickard
- , Patti Bastick
- , Jonathan Beesley
- , Nick Hayward
- , Amanda Spurdle
- , Logan Walker
- , John Beilby
- , Christobel Saunders
- , Ian Bennett
- , Anneke Blackburn
- , Michael Bogwitz
- , Clara Gaff
- , Geoff Lindeman
- , Nick Pachter
- , Clare Scott
- , Adrienne Sexton
- , Jane Visvader
- , Jessica Taylor
- , Ingrid Winship
- , Meagan Brennan
- , Melissa Brown
- , Juliet French
- , Stacey Edwards
- , Matthew Burgess
- , Jo Burke
- , Briony Patterson
- , Phyllis Butow
- , Bronwyn Culling
- , Liz Caldon
- , David Callen
- , Deepa Chauhan
- , Maurice Eisenbruch
- , Louise Heiniger
- , Manisha Chauhan
- , Alice Christian
- , Joanne Dixon
- , Alexa Kidd
- , Paul Cohen
- , Alison Colley
- , Georgina Fenton
- , Ashley Crook
- , Rebecca Dickson
- , Michael Field
- , Deborah Marsh
- , James Cui
- , Margaret Cummings
- , Sarah-Jane Dawson
- , Anna DeFazio
- , Martin Delatycki
- , Tracy Dudding
- , Ted Edkins
- , Gelareh Farshid
- , James Flanagan
- , Peter Fong
- , Laura Forrest
- , David Gallego-Ortega
- , Peter George
- , Grantley Gill
- , James Kollias
- , Eric Haan
- , Stewart Hart
- , Mark Jenkins
- , Clare Hunt
- , Sunil Lakhani
- , Lara Lipton
- , Liz Lobb
- , Graham Mann
- , Sue Anne McLachlan
- , Shona O’Connell
- , Sarah O’Sullivan
- , Ellen Pieper
- , Bridget Robinson
- , Jodi Saunus
- , Elizabeth Scott
- , Rodney Scott
- , Andrew Shelling
- , Peter Simpson
- , Rachael Williams
- , Mary Ann Young
- , Claudine Isaacs
- , Milena Jakimovska
- , Anna Jakubowska
- , Paul James
- , Ramunas Janavicius
- , Wolfgang Janni
- , Esther M. John
- , Michael E. Jones
- , Audrey Jung
- , Rudolf Kaaks
- , Beth Y. Karlan
- , Elza Khusnutdinova
- , Cari M. Kitahara
- , Irene Konstantopoulou
- , Stella Koutros
- , Peter Kraft
- , Diether Lambrechts
- , Conxi Lazaro
- , Loic Le Marchand
- , Jenny Lester
- , Fabienne Lesueur
- , Jenna Lilyquist
- , Jennifer T. Loud
- , Karen H. Lu
- , Robert N. Luben
- , Jan Lubinski
- , Arto Mannermaa
- , Mehdi Manoochehri
- , Siranoush Manoukian
- , Sara Margolin
- , John W. M. Martens
- , Tabea Maurer
- , Dimitrios Mavroudis
- , Noura Mebirouk
- , Alfons Meindl
- , Usha Menon
- , Austin Miller
- , Marco Montagna
- , Katherine L. Nathanson
- , Susan L. Neuhausen
- , William G. Newman
- , Tu Nguyen-Dumont
- , Finn Cilius Nielsen
- , Sarah Nielsen
- , Liene Nikitina-Zake
- , Kenneth Offit
- , Edith Olah
- , Olufunmilayo I. Olopade
- , Andrew F. Olshan
- , Janet E. Olson
- , Håkan Olsson
- , Ana Osorio
- , Laura Ottini
- , Bernard Peissel
- , Ana Peixoto
- , Julian Peto
- , Dijana Plaseska-Karanfilska
- , Timea Pocza
- , Nadege Presneau
- , Miquel Angel Pujana
- , Kevin Punie
- , Brigitte Rack
- , Johanna Rantala
- , Muhammad U. Rashid
- , Rohini Rau-Murthy
- , Gad Rennert
- , Flavio Lejbkowicz
- , Valerie Rhenius
- , Atocha Romero
- , Matti A. Rookus
- , Eric A. Ross
- , Maria Rossing
- , Vilius Rudaitis
- , Matthias Ruebner
- , Emmanouil Saloustros
- , Kristin Sanden
- , Marta Santamariña
- , Maren T. Scheuner
- , Rita K. Schmutzler
- , Michael Schneider
- , Christopher Scott
- , Leigha Senter
- , Mitul Shah
- , Priyanka Sharma
- , Xiao-Ou Shu
- , Jacques Simard
- , Christian F. Singer
- , Christof Sohn
- , Penny Soucy
- , Melissa C. Southey
- , John J. Spinelli
- , Linda Steele
- , Dominique Stoppa-Lyonnet
- , William J. Tapper
- , Manuel R. Teixeira
- , Mary Beth Terry
- , Mads Thomassen
- , Jennifer Thompson
- , Darcy L. Thull
- , Marc Tischkowitz
- , Rob A.E.M. Tollenaar
- , Diana Torres
- , Melissa A. Troester
- , Thérèse Truong
- , Nadine Tung
- , Michael Untch
- , Celine M. Vachon
- , Elizabeth J. van Rensburg
- , Elke M. van Veen
- , Ana Vega
- , Alessandra Viel
- , Barbara Wappenschmidt
- , Jeffrey N. Weitzel
- , Camilla Wendt
- , Greet Wieme
- , Alicja Wolk
- , Xiaohong R. Yang
- , Wei Zheng
- , Argyrios Ziogas
- , Kristin K. Zorn
- , Alison M. Dunning
- , Michael Lush
- , Qin Wang
- , Lesley McGuffog
- , Michael T. Parsons
- , Paul D. P. Pharoah
- , Florentia Fostira
- , Amanda E. Toland
- , Irene L. Andrulis
- , Susan J. Ramus
- , Anthony J. Swerdlow
- , Mark H. Greene
- , Wendy K. Chung
- , Roger L. Milne
- , Georgia Chenevix-Trench
- , Thilo Dörk
- , Marjanka K. Schmidt
- , Douglas F. Easton
- , Paolo Radice
- , Eric Hahnen
- , Antonis C. Antoniou
- , Fergus J. Couch
- , Heli Nevanlinna
- , Jordi Surrallés
- & Paolo Peterlongo
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Reviews |
Duplication of 10q24 locus: broadening the clinical and radiological spectrum
- Muriel Holder-Espinasse
- , Aleksander Jamsheer
- , Fabienne Escande
- , Joris Andrieux
- , Florence Petit
- , Anna Sowinska-Seidler
- , Magdalena Socha
- , Anna Jakubiuk-Tomaszuk
- , Marion Gerard
- , Michèle Mathieu-Dramard
- , Valérie Cormier-Daire
- , Alain Verloes
- , Annick Toutain
- , Ghislaine Plessis
- , Philippe Jonveaux
- , Clarisse Baumann
- , Albert David
- , Chantal Farra
- , Estelle Colin
- , Sébastien Jacquemont
- , Annick Rossi
- , Sahar Mansour
- , Neeti Ghali
- , Anne Moncla
- , Nayana Lahiri
- , Jane Hurst
- , Elena Pollina
- , Christine Patch
- , Joo Wook Ahn
- , Anne-Sylvie Valat
- , Aurélie Mezel
- , Philippe Bourgeot
- , David Zhang
- & Sylvie Manouvrier-Hanu
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Research |
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder
- Suzanna G. M. Frints
- , Aysegul Ozanturk
- , Germán Rodríguez Criado
- , Ute Grasshoff
- , Bas de Hoon
- , Michael Field
- , Sylvie Manouvrier-Hanu
- , Scott E. Hickey
- , Molka Kammoun
- , Karen W. Gripp
- , Claudia Bauer
- , Christopher Schroeder
- , Annick Toutain
- , Theresa Mihalic Mosher
- , Benjamin J. Kelly
- , Peter White
- , Andreas Dufke
- , Eveline Rentmeester
- , Sungjin Moon
- , Daniel C Koboldt
- , Kees E. P. van Roozendaal
- , Hao Hu
- , Stefan A. Haas
- , Hans-Hilger Ropers
- , Lucinda Murray
- , Eric Haan
- , Marie Shaw
- , Renee Carroll
- , Kathryn Friend
- , Jan Liebelt
- , Lynne Hobson
- , Marjan De Rademaeker
- , Joep Geraedts
- , Jean-Pierre Fryns
- , Joris Vermeesch
- , Martine Raynaud
- , Olaf Riess
- , Joost Gribnau
- , Nicholas Katsanis
- , Koen Devriendt
- , Peter Bauer
- , Jozef Gecz
- , Christelle Golzio
- , Cristina Gontan
- & Vera M. Kalscheuer
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Blepharocheilodontic syndrome is a CDH1 pathway–related disorder due to mutations in CDH1 and CTNND1
- Jamal Ghoumid
- , Morgane Stichelbout
- , Anne-Sophie Jourdain
- , Frederic Frenois
- , Sophie Lejeune-Dumoulin
- , Marie-Pierre Alex-Cordier
- , Marine Lebrun
- , Pierre Guerreschi
- , Veronique Duquennoy-Martinot
- , Matthieu Vinchon
- , Joel Ferri
- , Matthieu Jung
- , Serge Vicaire
- , Clemence Vanlerberghe
- , Fabienne Escande
- , Florence Petit
- & Sylvie Manouvrier-Hanu
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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
