Showing 1–27 of 27 results
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Amendments and Corrections |
Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder
- Christine Shieh
- , Natasha Jones
- , Brigitte Vanle
- , Margaret Au
- , Alden Y. Huang
- , Ana P. G. Silva
- , Hane Lee
- , Emilie D. Douine
- , Maria G. Otero
- , Andrew Choi
- , Katheryn Grand
- , Ingrid P. Taff
- , Mauricio R. Delgado
- , M. J. Hajianpour
- , Andrea Seeley
- , Luis Rohena
- , Hilary Vernon
- , Karen W. Gripp
- , Samantha A. Vergano
- , Sonal Mahida
- , Sakkubai Naidu
- , Ana Berta Sousa
- , Karen E. Wain
- , Thomas D. Challman
- , Geoffrey Beek
- , Donald Basel
- , Judith Ranells
- , Rosemarie Smith
- , Roman Yusupov
- , Mary-Louise Freckmann
- , Lisa Ohden
- , Laura Davis-Keppen
- , David Chitayat
- , James J. Dowling
- , Richard Finkel
- , Andrew Dauber
- , Rebecca Spillmann
- , Loren D. M. Pena
- , Kay Metcalfe
- , Miranda Splitt
- , Katherine Lachlan
- , Shane A. McKee
- , Jane Hurst
- , David R. Fitzpatrick
- , Jenny E. V. Morton
- , Helen Cox
- , Sunita Venkateswaran
- , Juan I. Young
- , Eric D. Marsh
- , Stanley F. Nelson
- , Julian A. Martinez
- , John M. Graham Jr
- , Usha Kini
- , Joel P. Mackay
- & Tyler Mark Pierson
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Research |
De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome
- Gregory Costain
- , Bert Callewaert
- , Heinz Gabriel
- , Tiong Y. Tan
- , Susan Walker
- , John Christodoulou
- , Tamas Lazar
- , Björn Menten
- , Julia Orkin
- , Simon Sadedin
- , Meaghan Snell
- , Arnaud Vanlander
- , Sarah Vergult
- , Susan M. White
- , Stephen W. Scherer
- , Robin Z. Hayeems
- , Susan Blaser
- , Shoshana J. Wodak
- , David Chitayat
- , Christian R. Marshall
- & M. Stephen Meyn
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Research |
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Correspondence |
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Research |
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Research |
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus
- Beverley H Anderson
- , Paul R Kasher
- , Josephine Mayer
- , Marcin Szynkiewicz
- , Emma M Jenkinson
- , Sanjeev S Bhaskar
- , Jill E Urquhart
- , Sarah B Daly
- , Jonathan E Dickerson
- , James O'Sullivan
- , Elisabeth Oppliger Leibundgut
- , Joanne Muter
- , Ghada M H Abdel-Salem
- , Riyana Babul-Hirji
- , Peter Baxter
- , Andrea Berger
- , Luisa Bonafé
- , Janice E Brunstom-Hernandez
- , Johannes A Buckard
- , David Chitayat
- , Wui K Chong
- , Duccio M Cordelli
- , Patrick Ferreira
- , Joel Fluss
- , Ewan H Forrest
- , Emilio Franzoni
- , Caterina Garone
- , Simon R Hammans
- , Gunnar Houge
- , Imelda Hughes
- , Sebastien Jacquemont
- , Pierre-Yves Jeannet
- , Rosalind J Jefferson
- , Ram Kumar
- , Georg Kutschke
- , Staffan Lundberg
- , Charles M Lourenço
- , Ramesh Mehta
- , Sakkubai Naidu
- , Ken K Nischal
- , Luís Nunes
- , Katrin Õunap
- , Michel Philippart
- , Prab Prabhakar
- , Sarah R Risen
- , Raphael Schiffmann
- , Calvin Soh
- , John B P Stephenson
- , Helen Stewart
- , Jon Stone
- , John L Tolmie
- , Marjo S van der Knaap
- , Jose P Vieira
- , Catheline N Vilain
- , Emma L Wakeling
- , Vanessa Wermenbol
- , Andrea Whitney
- , Simon C Lovell
- , Stefan Meyer
- , John H Livingston
- , Gabriela M Baerlocher
- , Graeme C M Black
- , Gillian I Rice
- & Yanick J Crow
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Research |
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis
- Yaoqin Gong
- , Deborah Krakow
- , Jose Marcelino
- , Douglas Wilkin
- , David Chitayat
- , Riyana Babul-Hirji
- , Louanne Hudgins
- , Cor W. Cremers
- , Frans P.M. Cremers
- , Han G. Brunner
- , Kent Reinker
- , David L. Rimoin
- , Daniel H. Cohn
- , Frances R. Goodman
- , William Reardon
- , Michael Patton
- , Clair A. Francomano
- & Matthew L. Warman
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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 |
GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder
- Christine Shieh
- , Natasha Jones
- , Brigitte Vanle
- , Margaret Au
- , Alden Y. Huang
- , Ana P. G. Silva
- , Hane Lee
- , Emilie D. Douine
- , Maria G. Otero
- , Andrew Choi
- , Katheryn Grand
- , Ingrid P. Taff
- , Mauricio R. Delgado
- , M. J. Hajianpour
- , Andrea Seeley
- , Luis Rohena
- , Hilary Vernon
- , Karen W. Gripp
- , Samantha A. Vergano
- , Sonal Mahida
- , Sakkubai Naidu
- , Ana Berta Sousa
- , Karen E. Wain
- , Thomas D. Challman
- , Geoffrey Beek
- , Donald Basel
- , Judith Ranells
- , Rosemarie Smith
- , Roman Yusupov
- , Mary-Louise Freckmann
- , Lisa Ohden
- , Laura Davis-Keppen
- , David Chitayat
- , James J. Dowling
- , Richard Finkel
- , Andrew Dauber
- , Rebecca Spillmann
- , Loren D. M. Pena
- , Kay Metcalfe
- , Miranda Splitt
- , Katherine Lachlan
- , Shane A. McKee
- , Jane Hurst
- , David R. Fitzpatrick
- , Jenny E. V. Morton
- , Helen Cox
- , Sunita Venkateswaran
- , Juan I. Young
- , Eric D. Marsh
- , Stanley F. Nelson
- , Julian A. Martinez
- , John M. Graham Jr
- , Usha Kini
- , Joel P. Mackay
- & Tyler Mark Pierson
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Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR)
- Matthew S Lebo
- , Kathleen-Rose Zakoor
- , Kathy Chun
- , Marsha D Speevak
- , John S Waye
- , Elizabeth McCready
- , Jillian S Parboosingh
- , Ryan E Lamont
- , Harriet Feilotter
- , Ian Bosdet
- , Tracy Tucker
- , Sean Young
- , Aly Karsan
- , George S Charames
- , Ronald Agatep
- , Elizabeth L Spriggs
- , Caitlin Chisholm
- , Nasim Vasli
- , Hussein Daoud
- , Olga Jarinova
- , Robert Tomaszewski
- , Stacey Hume
- , Sherryl Taylor
- , Mohammad R Akbari
- , Jordan Lerner-Ellis
- , Ron Agatep
- , Peter Ainsworth
- , Mohammad R Akbari
- , Melyssa Aronson
- , Raveen Basran
- , Andre Blavier
- , Andrea Blumenthal
- , Ian Bosdet
- , Kym Boycott
- , Michael Brudno
- , Kathleen Buckley
- , Jodi Campbell
- , Philippe M Campeau
- , Melanie Care
- , Nancy Carson
- , Ronald Carter
- , George Charames
- , David Chitayat
- , George Chong
- , Edmond Chouinard
- , Kathy Chun
- , Kenneth J Craddock
- , Rod Docking
- , Andrea Eisen
- , Hanna Faghfoury
- , Sandra Farrell
- , Harriet Feilotter
- , Bridget Fernandez
- , Marc Fiume
- , Cynthia Forster-Gibson
- , Jan Friedman
- , William Foulkes
- , Peter Goodhand
- , Jessica Gu
- , Robert Hegele
- , Spring Holter
- , Sheri Horsburgh
- , Lauren Hughes
- , Stacey Hume
- , Olga Jarinova
- , Franny Jewett
- , Anne Junker
- , Aly Karsan
- , Sam Khalouei
- , Joan Knoll
- , Elena Kolomeitz
- , Bartha Knoppers
- , Ryan Lamont
- , Matthew Lebo
- , Jordan Lerner-Ellis
- , Georges Maire
- , Christian Marshall
- , Elizabeth McCready
- , Grant Mitchell
- , Michael J Moorhouse
- , Chantal Morel
- , Tanya Nelson
- , Abdul Noor
- , Brian O'Connor
- , Darren O'Rielly
- , Francis Ouellette
- , Jillian Parboosingh
- , Hilary Racher
- , Peter Ray
- , Heidi Rehm
- , Christie Riddell
- , Jean-Baptiste Riviere
- , David S Rosenblatt
- , Guy Rouleau
- , Andrea Ruchon
- , Peter Sabatini
- , Bekim Sadikovic
- , Kara Semotiuk
- , Stephen W Scherer
- , Cheryl Shuman
- , Josh Silver
- , Katherine Siminovitch
- , Lesley Solomon-Izsak
- , Jean-Francois Soucy
- , Marsha Speevak
- , James Stavropoulos
- , Lincoln Stein
- , Rhonda Tannenbaum
- , Sherryl Taylor
- , Deborah Terespolsky
- , Robert Tomaszewski
- , Tracy Tucker
- , Richard F Wintle
- , Beatrix Wong
- , Nora Wong
- , Marina Wang
- , Nicholas Watkins
- , John S Waye
- , Shana White
- , Michael O Woods
- , Philip Wyatt
- , Sean Young
- & Kathleen-Rose Zakoor
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Research |
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly
- Daniela A Braun
- , Jia Rao
- , Geraldine Mollet
- , David Schapiro
- , Marie-Claire Daugeron
- , Weizhen Tan
- , Olivier Gribouval
- , Olivia Boyer
- , Patrick Revy
- , Tilman Jobst-Schwan
- , Johanna Magdalena Schmidt
- , Jennifer A Lawson
- , Denny Schanze
- , Shazia Ashraf
- , Jeremy F P Ullmann
- , Charlotte A Hoogstraten
- , Nathalie Boddaert
- , Bruno Collinet
- , Gaëlle Martin
- , Dominique Liger
- , Svjetlana Lovric
- , Monica Furlano
- , I Chiara Guerrera
- , Oraly Sanchez-Ferras
- , Jennifer F Hu
- , Anne-Claire Boschat
- , Sylvia Sanquer
- , Björn Menten
- , Sarah Vergult
- , Nina De Rocker
- , Merlin Airik
- , Tobias Hermle
- , Shirlee Shril
- , Eugen Widmeier
- , Heon Yung Gee
- , Won-Il Choi
- , Carolin E Sadowski
- , Werner L Pabst
- , Jillian K Warejko
- , Ankana Daga
- , Tamara Basta
- , Verena Matejas
- , Karin Scharmann
- , Sandra D Kienast
- , Babak Behnam
- , Brendan Beeson
- , Amber Begtrup
- , Malcolm Bruce
- , Gaik-Siew Ch'ng
- , Shuan-Pei Lin
- , Jui-Hsing Chang
- , Chao-Huei Chen
- , Megan T Cho
- , Patrick M Gaffney
- , Patrick E Gipson
- , Chyong-Hsin Hsu
- , Jameela A Kari
- , Yu-Yuan Ke
- , Cathy Kiraly-Borri
- , Wai-ming Lai
- , Emmanuelle Lemyre
- , Rebecca Okashah Littlejohn
- , Amira Masri
- , Mastaneh Moghtaderi
- , Kazuyuki Nakamura
- , Fatih Ozaltin
- , Marleen Praet
- , Chitra Prasad
- , Agnieszka Prytula
- , Elizabeth R Roeder
- , Patrick Rump
- , Rhonda E Schnur
- , Takashi Shiihara
- , Manish D Sinha
- , Neveen A Soliman
- , Kenza Soulami
- , David A Sweetser
- , Wen-Hui Tsai
- , Jeng-Daw Tsai
- , Rezan Topaloglu
- , Udo Vester
- , David H Viskochil
- , Nithiwat Vatanavicharn
- , Jessica L Waxler
- , Klaas J Wierenga
- , Matthias T F Wolf
- , Sik-Nin Wong
- , Sebastian A Leidel
- , Gessica Truglio
- , Peter C Dedon
- , Annapurna Poduri
- , Shrikant Mane
- , Richard P Lifton
- , Maxime Bouchard
- , Peter Kannu
- , David Chitayat
- , Daniella Magen
- , Bert Callewaert
- , Herman van Tilbeurgh
- , Martin Zenker
- , Corinne Antignac
- & Friedhelm Hildebrandt
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Research |
Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis
- Sarah Boissel
- , Catherine Fallet-Bianco
- , David Chitayat
- , Valérie Kremer
- , Christina Nassif
- , Françoise Rypens
- , Marie-Ange Delrue
- , Dorothée Dal Soglio
- , Luc L Oligny
- , Natalie Patey
- , Elisabeth Flori
- , Mireille Cloutier
- , David Dyment
- , Philippe Campeau
- , Aspasia Karalis
- , Sonia Nizard
- , William D Fraser
- , François Audibert
- , Emmanuelle Lemyre
- , Guy A Rouleau
- , Fadi F Hamdan
- , Zoha Kibar
- & Jacques L Michaud
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Research |
Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing
- Rea M Lardelli
- , Ashleigh E Schaffer
- , Veerle R C Eggens
- , Maha S Zaki
- , Stephanie Grainger
- , Shashank Sathe
- , Eric L Van Nostrand
- , Zinayida Schlachetzki
- , Basak Rosti
- , Naiara Akizu
- , Eric Scott
- , Jennifer L Silhavy
- , Laura Dean Heckman
- , Rasim Ozgur Rosti
- , Esra Dikoglu
- , Anne Gregor
- , Alicia Guemez-Gamboa
- , Damir Musaev
- , Rohit Mande
- , Ari Widjaja
- , Tim L Shaw
- , Sebastian Markmiller
- , Isaac Marin-Valencia
- , Justin H Davies
- , Linda de Meirleir
- , Hulya Kayserili
- , Umut Altunoglu
- , Mary Louise Freckmann
- , Linda Warwick
- , David Chitayat
- , Susan Blaser
- , Ahmet Okay Çağlayan
- , Kaya Bilguvar
- , Huseyin Per
- , Christina Fagerberg
- , Henrik T Christesen
- , Maria Kibaek
- , Kimberly A Aldinger
- , David Manchester
- , Naomichi Matsumoto
- , Kazuhiro Muramatsu
- , Hirotomo Saitsu
- , Masaaki Shiina
- , Kazuhiro Ogata
- , Nicola Foulds
- , William B Dobyns
- , Neil C Chi
- , David Traver
- , Luigina Spaccini
- , Stefania Maria Bova
- , Stacey B Gabriel
- , Murat Gunel
- , Enza Maria Valente
- , Marie-Cecile Nassogne
- , Eric J Bennett
- , Gene W Yeo
- , Frank Baas
- , Jens Lykke-Andersen
- & Joseph G Gleeson
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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
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Research |
Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development
- Silvia Cappello
- , Mary J Gray
- , Caroline Badouel
- , Simona Lange
- , Melanie Einsiedler
- , Myriam Srour
- , David Chitayat
- , Fadi F Hamdan
- , Zandra A Jenkins
- , Tim Morgan
- , Nadia Preitner
- , Tami Uster
- , Jackie Thomas
- , Patrick Shannon
- , Victoria Morrison
- , Nataliya Di Donato
- , Lionel Van Maldergem
- , Teresa Neuhann
- , Ruth Newbury-Ecob
- , Marielle Swinkells
- , Paulien Terhal
- , Louise C Wilson
- , Petra J G Zwijnenburg
- , Andrew J Sutherland-Smith
- , Michael A Black
- , David Markie
- , Jacques L Michaud
- , Michael A Simpson
- , Sahar Mansour
- , Helen McNeill
- , Magdalena Götz
- & Stephen P Robertson
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Research |
PDE3A mutations cause autosomal dominant hypertension with brachydactyly
- Philipp G Maass
- , Atakan Aydin
- , Friedrich C Luft
- , Carolin Schächterle
- , Anja Weise
- , Sigmar Stricker
- , Carsten Lindschau
- , Martin Vaegler
- , Fatimunnisa Qadri
- , Hakan R Toka
- , Herbert Schulz
- , Peter M Krawitz
- , Dmitri Parkhomchuk
- , Jochen Hecht
- , Irene Hollfinger
- , Yvette Wefeld-Neuenfeld
- , Eireen Bartels-Klein
- , Astrid Mühl
- , Martin Kann
- , Herbert Schuster
- , David Chitayat
- , Martin G Bialer
- , Thomas F Wienker
- , Jürg Ott
- , Katharina Rittscher
- , Thomas Liehr
- , Jens Jordan
- , Ghislaine Plessis
- , Jens Tank
- , Knut Mai
- , Ramin Naraghi
- , Russell Hodge
- , Maxwell Hopp
- , Lars O Hattenbach
- , Andreas Busjahn
- , Anita Rauch
- , Fabrice Vandeput
- , Maolian Gong
- , Franz Rüschendorf
- , Norbert Hübner
- , Hermann Haller
- , Stefan Mundlos
- , Nihat Bilginturan
- , Matthew A Movsesian
- , Enno Klussmann
- , Okan Toka
- & Sylvia Bähring
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Research |
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration
- Jijun Wan
- , Michael Yourshaw
- , Hafsa Mamsa
- , Sabine Rudnik-Schöneborn
- , Manoj P Menezes
- , Ji Eun Hong
- , Derek W Leong
- , Jan Senderek
- , Michael S Salman
- , David Chitayat
- , Pavel Seeman
- , Arpad von Moers
- , Luitgard Graul-Neumann
- , Andrew J Kornberg
- , Manuel Castro-Gago
- , María-Jesús Sobrido
- , Masafumi Sanefuji
- , Perry B Shieh
- , Noriko Salamon
- , Ronald C Kim
- , Harry V Vinters
- , Zugen Chen
- , Klaus Zerres
- , Monique M Ryan
- , Stanley F Nelson
- & Joanna C Jen
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Research |
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan
- Tony Roscioli
- , Erik-Jan Kamsteeg
- , Karen Buysse
- , Isabelle Maystadt
- , Jeroen van Reeuwijk
- , Christa van den Elzen
- , Ellen van Beusekom
- , Moniek Riemersma
- , Rolph Pfundt
- , Lisenka E L M Vissers
- , Margit Schraders
- , Umut Altunoglu
- , Michael F Buckley
- , Han G Brunner
- , Bernard Grisart
- , Huiqing Zhou
- , Joris A Veltman
- , Christian Gilissen
- , Grazia M S Mancini
- , Paul Delrée
- , Michèl A Willemsen
- , Danijela Petković Ramadža
- , David Chitayat
- , Christopher Bennett
- , Eamonn Sheridan
- , Els A J Peeters
- , Gita M B Tan-Sindhunata
- , Christine E de Die-Smulders
- , Koenraad Devriendt
- , Hülya Kayserili
- , Osama Abd El-Fattah El-Hashash
- , Derek L Stemple
- , Dirk J Lefeber
- , Yung-Yao Lin
- & Hans van Bokhoven
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Research |
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection
- Yanick J Crow
- , Andrea Leitch
- , Bruce E Hayward
- , Anna Garner
- , Rekha Parmar
- , Elen Griffith
- , Manir Ali
- , Colin Semple
- , Jean Aicardi
- , Riyana Babul-Hirji
- , Clarisse Baumann
- , Peter Baxter
- , Enrico Bertini
- , Kate E Chandler
- , David Chitayat
- , Daniel Cau
- , Catherine Déry
- , Elisa Fazzi
- , Cyril Goizet
- , Mary D King
- , Joerg Klepper
- , Didier Lacombe
- , Giovanni Lanzi
- , Hermione Lyall
- , María Luisa Martínez-Frías
- , Michèle Mathieu
- , Carole McKeown
- , Anne Monier
- , Yvette Oade
- , Oliver W Quarrell
- , Christopher D Rittey
- , R Curtis Rogers
- , Amparo Sanchis
- , John B P Stephenson
- , Uta Tacke
- , Marianne Till
- , John L Tolmie
- , Pam Tomlin
- , Thomas Voit
- , Bernhard Weschke
- , C Geoffrey Woods
- , Pierre Lebon
- , David T Bonthron
- , Chris P Ponting
- & Andrew P Jackson
