Showing 1–30 of 30 results
-
Research |
-
Research |
-
Research |
Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing
- Gregory Costain
- , Rebekah Jobling
- , Susan Walker
- , Miriam S. Reuter
- , Meaghan Snell
- , Sarah Bowdin
- , Ronald D. Cohn
- , Lucie Dupuis
- , Stacy Hewson
- , Saadet Mercimek-Andrews
- , Cheryl Shuman
- , Neal Sondheimer
- , Rosanna Weksberg
- , Grace Yoon
- , M. Stephen Meyn
- , Dimitri J. Stavropoulos
- , Stephen W. Scherer
- , Roberto Mendoza-Londono
- & Christian R. Marshall
-
Research |
-
Correspondence |
-
Research |
-
Research |
-
Research |
-
News and Views |
-
-
-
Research |
Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia
- Cornelius F. Boerkoel
- , Hiroshi Takashima
- , Joy John
- , Jiong Yan
- , Pawel Stankiewicz
- , Lisa Rosenbarker
- , Jean-Luc André
- , Radovan Bogdanovic
- , Antoine Burguet
- , Sandra Cockfield
- , Isabel Cordeiro
- , Stefan Fründ
- , Friederike Illies
- , Mark Joseph
- , Ilkka Kaitila
- , Giuliana Lama
- , Chantal Loirat
- , D. Ross McLeod
- , David V. Milford
- , Elizabeth M. Petty
- , Francisco Rodrigo
- , Jorge M. Saraiva
- , Beate Schmidt
- , Graham C. Smith
- , Jürgen Spranger
- , Anja Stein
- , Hannelore Thiele
- , Jane Tizard
- , Rosanna Weksberg
- , James R. Lupski
- & David W. Stockton
-
Research |
-
-
Research |
Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2
- Nathaniel H. Robin
- , George J. Feldman
- , Adam L. Aronson
- , Heather F. Mitchell
- , Rosanna Weksberg
- , Claire O. Leonard
- , Barbara K. Burton
- , Kevin D. Josephson
- , Renata Laxová
- , Kyrieckos A. Aleck
- , Judith E. Allanson
- , Maria Leine Guion-Almeida
- , Rick A. Martin
- , Lawrence G. Leichtman
- , R. Arlen Price
- , John M. Opitz
- & Maximilian Muenke
-
Research | | Open
A large data resource of genomic copy number variation across neurodevelopmental disorders
- Mehdi Zarrei
- , Christie L. Burton
- , Worrawat Engchuan
- , Edwin J. Young
- , Edward J. Higginbotham
- , Jeffrey R. MacDonald
- , Brett Trost
- , Ada J. S. Chan
- , Susan Walker
- , Sylvia Lamoureux
- , Tracy Heung
- , Bahareh A. Mojarad
- , Barbara Kellam
- , Tara Paton
- , Muhammad Faheem
- , Karin Miron
- , Chao Lu
- , Ting Wang
- , Kozue Samler
- , Xiaolin Wang
- , Gregory Costain
- , Ny Hoang
- , Giovanna Pellecchia
- , John Wei
- , Rohan V. Patel
- , Bhooma Thiruvahindrapuram
- , Maian Roifman
- , Daniele Merico
- , Tara Goodale
- , Irene Drmic
- , Marsha Speevak
- , Jennifer L. Howe
- , Ryan K. C. Yuen
- , Janet A. Buchanan
- , Jacob A. S. Vorstman
- , Christian R. Marshall
- , Richard F. Wintle
- , David R. Rosenberg
- , Gregory L. Hanna
- , Marc Woodbury-Smith
- , Cheryl Cytrynbaum
- , Lonnie Zwaigenbaum
- , Mayada Elsabbagh
- , Janine Flanagan
- , Bridget A. Fernandez
- , Melissa T. Carter
- , Peter Szatmari
- , Wendy Roberts
- , Jason Lerch
- , Xudong Liu
- , Rob Nicolson
- , Stelios Georgiades
- , Rosanna Weksberg
- , Paul D. Arnold
- , Anne S. Bassett
- , Jennifer Crosbie
- , Russell Schachar
- , Dimitri J. Stavropoulos
- , Evdokia Anagnostou
- & Stephen W. Scherer
-
Research | | Open
-
| Open
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test
- Anath C Lionel
- , Gregory Costain
- , Nasim Monfared
- , Susan Walker
- , Miriam S Reuter
- , S Mohsen Hosseini
- , Bhooma Thiruvahindrapuram
- , Daniele Merico
- , Rebekah Jobling
- , Thomas Nalpathamkalam
- , Giovanna Pellecchia
- , Wilson W L Sung
- , Zhuozhi Wang
- , Peter Bikangaga
- , Cyrus Boelman
- , Melissa T Carter
- , Dawn Cordeiro
- , Cheryl Cytrynbaum
- , Sharon D Dell
- , Priya Dhir
- , James J Dowling
- , Elise Heon
- , Stacy Hewson
- , Linda Hiraki
- , Michal Inbar-Feigenberg
- , Regan Klatt
- , Jonathan Kronick
- , Ronald M Laxer
- , Christoph Licht
- , Heather MacDonald
- , Saadet Mercimek-Andrews
- , Roberto Mendoza-Londono
- , Tino Piscione
- , Rayfel Schneider
- , Andreas Schulze
- , Earl Silverman
- , Komudi Siriwardena
- , O Carter Snead
- , Neal Sondheimer
- , Joanne Sutherland
- , Ajoy Vincent
- , Jonathan D Wasserman
- , Rosanna Weksberg
- , Cheryl Shuman
- , Chris Carew
- , Michael J Szego
- , Robin Z Hayeems
- , Raveen Basran
- , Dimitri J Stavropoulos
- , Peter N Ray
- , Sarah Bowdin
- , M Stephen Meyn
- , Ronald D Cohn
- , Stephen W Scherer
- & Christian R Marshall
-
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
-
Research |
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
- Ryan K C Yuen
- , Daniele Merico
- , Matt Bookman
- , Jennifer L Howe
- , Bhooma Thiruvahindrapuram
- , Rohan V Patel
- , Joe Whitney
- , Nicole Deflaux
- , Jonathan Bingham
- , Zhuozhi Wang
- , Giovanna Pellecchia
- , Janet A Buchanan
- , Susan Walker
- , Christian R Marshall
- , Mohammed Uddin
- , Mehdi Zarrei
- , Eric Deneault
- , Lia D'Abate
- , Ada J S Chan
- , Stephanie Koyanagi
- , Tara Paton
- , Sergio L Pereira
- , Ny Hoang
- , Worrawat Engchuan
- , Edward J Higginbotham
- , Karen Ho
- , Sylvia Lamoureux
- , Weili Li
- , Jeffrey R MacDonald
- , Thomas Nalpathamkalam
- , Wilson W L Sung
- , Fiona J Tsoi
- , John Wei
- , Lizhen Xu
- , Anne-Marie Tasse
- , Emily Kirby
- , William Van Etten
- , Simon Twigger
- , Wendy Roberts
- , Irene Drmic
- , Sanne Jilderda
- , Bonnie MacKinnon Modi
- , Barbara Kellam
- , Michael Szego
- , Cheryl Cytrynbaum
- , Rosanna Weksberg
- , Lonnie Zwaigenbaum
- , Marc Woodbury-Smith
- , Jessica Brian
- , Lili Senman
- , Alana Iaboni
- , Krissy Doyle-Thomas
- , Ann Thompson
- , Christina Chrysler
- , Jonathan Leef
- , Tal Savion-Lemieux
- , Isabel M Smith
- , Xudong Liu
- , Rob Nicolson
- , Vicki Seifer
- , Angie Fedele
- , Edwin H Cook
- , Stephen Dager
- , Annette Estes
- , Louise Gallagher
- , Beth A Malow
- , Jeremy R Parr
- , Sarah J Spence
- , Jacob Vorstman
- , Brendan J Frey
- , James T Robinson
- , Lisa J Strug
- , Bridget A Fernandez
- , Mayada Elsabbagh
- , Melissa T Carter
- , Joachim Hallmayer
- , Bartha M Knoppers
- , Evdokia Anagnostou
- , Peter Szatmari
- , Robert H Ring
- , David Glazer
- , Mathew T Pletcher
- & Stephen W Scherer
-
Research | | Open
Genome-wide characteristics of de novo mutations in autism
- Ryan KC Yuen
- , Daniele Merico
- , Hongzhi Cao
- , Giovanna Pellecchia
- , Babak Alipanahi
- , Bhooma Thiruvahindrapuram
- , Xin Tong
- , Yuhui Sun
- , Dandan Cao
- , Tao Zhang
- , Xueli Wu
- , Xin Jin
- , Ze Zhou
- , Xiaomin Liu
- , Thomas Nalpathamkalam
- , Susan Walker
- , Jennifer L Howe
- , Zhuozhi Wang
- , Jeffrey R MacDonald
- , Ada JS Chan
- , Lia D’Abate
- , Eric Deneault
- , Michelle T Siu
- , Kristiina Tammimies
- , Mohammed Uddin
- , Mehdi Zarrei
- , Mingbang Wang
- , Yingrui Li
- , Jun Wang
- , Jian Wang
- , Huanming Yang
- , Matt Bookman
- , Jonathan Bingham
- , Samuel S Gross
- , Dion Loy
- , Mathew Pletcher
- , Christian R Marshall
- , Evdokia Anagnostou
- , Lonnie Zwaigenbaum
- , Rosanna Weksberg
- , Bridget A Fernandez
- , Wendy Roberts
- , Peter Szatmari
- , David Glazer
- , Brendan J Frey
- , Robert H Ring
- , Xun Xu
- & Stephen W Scherer
-
Reviews | | Open
EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndrome
- Katja Eggermann
- , Jet Bliek
- , Frédéric Brioude
- , Elizabeth Algar
- , Karin Buiting
- , Silvia Russo
- , Zeynep Tümer
- , David Monk
- , Gudrun Moore
- , Thalia Antoniadi
- , Fiona Macdonald
- , Irène Netchine
- , Paolo Lombardi
- , Lukas Soellner
- , Matthias Begemann
- , Dirk Prawitt
- , Eamonn R Maher
- , Marcel Mannens
- , Andrea Riccio
- , Rosanna Weksberg
- , Pablo Lapunzina
- , Karen Grønskov
- , Deborah JG Mackay
- & Thomas Eggermann
-
Research | | Open
Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine
- Dimitri J Stavropoulos
- , Daniele Merico
- , Rebekah Jobling
- , Sarah Bowdin
- , Nasim Monfared
- , Bhooma Thiruvahindrapuram
- , Thomas Nalpathamkalam
- , Giovanna Pellecchia
- , Ryan K C Yuen
- , Michael J Szego
- , Robin Z Hayeems
- , Randi Zlotnik Shaul
- , Michael Brudno
- , Marta Girdea
- , Brendan Frey
- , Babak Alipanahi
- , Sohnee Ahmed
- , Riyana Babul-Hirji
- , Ramses Badilla Porras
- , Melissa T Carter
- , Lauren Chad
- , Ayeshah Chaudhry
- , David Chitayat
- , Soghra Jougheh Doust
- , Cheryl Cytrynbaum
- , Lucie Dupuis
- , Resham Ejaz
- , Leona Fishman
- , Andrea Guerin
- , Bita Hashemi
- , Mayada Helal
- , Stacy Hewson
- , Michal Inbar-Feigenberg
- , Peter Kannu
- , Natalya Karp
- , Raymond H Kim
- , Jonathan Kronick
- , Eriskay Liston
- , Heather MacDonald
- , Saadet Mercimek-Mahmutoglu
- , Roberto Mendoza-Londono
- , Enas Nasr
- , Graeme Nimmo
- , Nicole Parkinson
- , Nada Quercia
- , Julian Raiman
- , Maian Roifman
- , Andreas Schulze
- , Andrea Shugar
- , Cheryl Shuman
- , Pierre Sinajon
- , Komudi Siriwardena
- , Rosanna Weksberg
- , Grace Yoon
- , Chris Carew
- , Raith Erickson
- , Richard A Leach
- , Robert Klein
- , Peter N Ray
- , M Stephen Meyn
- , Stephen W Scherer
- , Ronald D Cohn
- & Christian R Marshall
-
Research | | Open
-
Research |
Whole-genome sequencing of quartet families with autism spectrum disorder
- Ryan K C Yuen
- , Bhooma Thiruvahindrapuram
- , Daniele Merico
- , Susan Walker
- , Kristiina Tammimies
- , Ny Hoang
- , Christina Chrysler
- , Thomas Nalpathamkalam
- , Giovanna Pellecchia
- , Yi Liu
- , Matthew J Gazzellone
- , Lia D'Abate
- , Eric Deneault
- , Jennifer L Howe
- , Richard S C Liu
- , Ann Thompson
- , Mehdi Zarrei
- , Mohammed Uddin
- , Christian R Marshall
- , Robert H Ring
- , Lonnie Zwaigenbaum
- , Peter N Ray
- , Rosanna Weksberg
- , Melissa T Carter
- , Bridget A Fernandez
- , Wendy Roberts
- , Peter Szatmari
- & Stephen W Scherer
-
Prenatal molecular testing for Beckwith–Wiedemann and Silver–Russell syndromes: a challenge for molecular analysis and genetic counseling
- Thomas Eggermann
- , Frédéric Brioude
- , Silvia Russo
- , Maria P Lombardi
- , Jet Bliek
- , Eamonn R Maher
- , Lidia Larizza
- , Dirk Prawitt
- , Irène Netchine
- , Marie Gonzales
- , Karen Grønskov
- , Zeynep Tümer
- , David Monk
- , Marcel Mannens
- , Krystyna Chrzanowska
- , Malgorzata K Walasek
- , Matthias Begemann
- , Lukas Soellner
- , Katja Eggermann
- , Jair Tenorio
- , Julián Nevado
- , Gudrun E Moore
- , Deborah JG Mackay
- , Karen Temple
- , Gabriele Gillessen-Kaesbach
- , Tsutomu Ogata
- , Rosanna Weksberg
- , Elizabeth Algar
- & Pablo Lapunzina
-
-
Research |
Functional impact of global rare copy number variation in autism spectrum disorders
- Dalila Pinto
- , Alistair T. Pagnamenta
- , Lambertus Klei
- , Richard Anney
- , Daniele Merico
- , Regina Regan
- , Judith Conroy
- , Tiago R. Magalhaes
- , Catarina Correia
- , Brett S. Abrahams
- , Joana Almeida
- , Elena Bacchelli
- , Gary D. Bader
- , Anthony J. Bailey
- , Gillian Baird
- , Agatino Battaglia
- , Tom Berney
- , Nadia Bolshakova
- , Sven Bölte
- , Patrick F. Bolton
- , Thomas Bourgeron
- , Sean Brennan
- , Jessica Brian
- , Susan E. Bryson
- , Andrew R. Carson
- , Guillermo Casallo
- , Jillian Casey
- , Brian H.Y. Chung
- , Lynne Cochrane
- , Christina Corsello
- , Emily L. Crawford
- , Andrew Crossett
- , Cheryl Cytrynbaum
- , Geraldine Dawson
- , Maretha de Jonge
- , Richard Delorme
- , Irene Drmic
- , Eftichia Duketis
- , Frederico Duque
- , Annette Estes
- , Penny Farrar
- , Bridget A. Fernandez
- , Susan E. Folstein
- , Eric Fombonne
- , Christine M. Freitag
- , John Gilbert
- , Christopher Gillberg
- , Joseph T. Glessner
- , Jeremy Goldberg
- , Andrew Green
- , Jonathan Green
- , Stephen J. Guter
- , Hakon Hakonarson
- , Elizabeth A. Heron
- , Matthew Hill
- , Richard Holt
- , Jennifer L. Howe
- , Gillian Hughes
- , Vanessa Hus
- , Roberta Igliozzi
- , Cecilia Kim
- , Sabine M. Klauck
- , Alexander Kolevzon
- , Olena Korvatska
- , Vlad Kustanovich
- , Clara M. Lajonchere
- , Janine A. Lamb
- , Magdalena Laskawiec
- , Marion Leboyer
- , Ann Le Couteur
- , Bennett L. Leventhal
- , Anath C. Lionel
- , Xiao-Qing Liu
- , Catherine Lord
- , Linda Lotspeich
- , Sabata C. Lund
- , Elena Maestrini
- , William Mahoney
- , Carine Mantoulan
- , Christian R. Marshall
- , Helen McConachie
- , Christopher J. McDougle
- , Jane McGrath
- , William M. McMahon
- , Alison Merikangas
- , Ohsuke Migita
- , Nancy J. Minshew
- , Ghazala K. Mirza
- , Jeff Munson
- , Stanley F. Nelson
- , Carolyn Noakes
- , Abdul Noor
- , Gudrun Nygren
- , Guiomar Oliveira
- , Katerina Papanikolaou
- , Jeremy R. Parr
- , Barbara Parrini
- , Tara Paton
- , Andrew Pickles
- , Marion Pilorge
- , Joseph Piven
- , Chris P. Ponting
- , David J. Posey
- , Annemarie Poustka
- , Fritz Poustka
- , Aparna Prasad
- , Jiannis Ragoussis
- , Katy Renshaw
- , Jessica Rickaby
- , Wendy Roberts
- , Kathryn Roeder
- , Bernadette Roge
- , Michael L. Rutter
- , Laura J. Bierut
- , John P. Rice
- , Jeff Salt
- , Katherine Sansom
- , Daisuke Sato
- , Ricardo Segurado
- , Ana F. Sequeira
- , Lili Senman
- , Naisha Shah
- , Val C. Sheffield
- , Latha Soorya
- , Inês Sousa
- , Olaf Stein
- , Nuala Sykes
- , Vera Stoppioni
- , Christina Strawbridge
- , Raffaella Tancredi
- , Katherine Tansey
- , Bhooma Thiruvahindrapduram
- , Ann P. Thompson
- , Susanne Thomson
- , Ana Tryfon
- , John Tsiantis
- , Herman Van Engeland
- , John B. Vincent
- , Fred Volkmar
- , Simon Wallace
- , Kai Wang
- , Zhouzhi Wang
- , Thomas H. Wassink
- , Caleb Webber
- , Rosanna Weksberg
- , Kirsty Wing
- , Kerstin Wittemeyer
- , Shawn Wood
- , Jing Wu
- , Brian L. Yaspan
- , Danielle Zurawiecki
- , Lonnie Zwaigenbaum
- , Joseph D. Buxbaum
- , Rita M. Cantor
- , Edwin H. Cook
- , Hilary Coon
- , Michael L. Cuccaro
- , Bernie Devlin
- , Sean Ennis
- , Louise Gallagher
- , Daniel H. Geschwind
- , Michael Gill
- , Jonathan L. Haines
- , Joachim Hallmayer
- , Judith Miller
- , Anthony P. Monaco
- , John I. Nurnberger Jr
- , Andrew D. Paterson
- , Margaret A. Pericak-Vance
- , Gerard D. Schellenberg
- , Peter Szatmari
- , Astrid M. Vicente
- , Veronica J. Vieland
- , Ellen M. Wijsman
- , Stephen W. Scherer
- , James S. Sutcliffe
- & Catalina Betancur
-
Research |
-
Research |
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
- Jean-Baptiste Rivière
- , Ghayda M Mirzaa
- , Brian J O'Roak
- , Margaret Beddaoui
- , Diana Alcantara
- , Robert L Conway
- , Judith St-Onge
- , Jeremy A Schwartzentruber
- , Karen W Gripp
- , Sarah M Nikkel
- , Thea Worthylake
- , Christopher T Sullivan
- , Thomas R Ward
- , Hailly E Butler
- , Nancy A Kramer
- , Beate Albrecht
- , Christine M Armour
- , Linlea Armstrong
- , Oana Caluseriu
- , Cheryl Cytrynbaum
- , Beth A Drolet
- , A Micheil Innes
- , Julie L Lauzon
- , Angela E Lin
- , Grazia M S Mancini
- , Wendy S Meschino
- , James D Reggin
- , Anand K Saggar
- , Tally Lerman-Sagie
- , Gökhan Uyanik
- , Rosanna Weksberg
- , Birgit Zirn
- , Chandree L Beaulieu
- , Jacek Majewski
- , Dennis E Bulman
- , Mark O'Driscoll
- , Jay Shendure
- , John M Graham Jr
- , Kym M Boycott
- & William B Dobyns
