Showing 1–12 of 12 results
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Amendments and Corrections |
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Research |
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Research |
Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability
- Cheryl Shoubridge
- , Patrick S Tarpey
- , Fatima Abidi
- , Sarah L Ramsden
- , Sinitdhorn Rujirabanjerd
- , Jessica A Murphy
- , Jackie Boyle
- , Marie Shaw
- , Alison Gardner
- , Anne Proos
- , Helen Puusepp
- , F Lucy Raymond
- , Charles E Schwartz
- , Roger E Stevenson
- , Gill Turner
- , Michael Field
- , Randall S Walikonis
- , Robert J Harvey
- , Anna Hackett
- , P Andrew Futreal
- , Michael R Stratton
- & Jozef Gécz
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Amendments and Corrections |
Correction: Corrigendum to: CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes
- Anna Hackett
- , Patrick S Tarpey
- , Andrea Licata
- , James Cox
- , Annabel Whibley
- , Jackie Boyle
- , Carolyn Rogers
- , John Grigg
- , Michael Partington
- , Roger E Stevenson
- , John Tolmie
- , John R W Yates
- , Gillian Turner
- , Meredith Wilson
- , Andrew P Futreal
- , Mark Corbett
- , Marie Shaw
- , Jozef Gecz
- , F Lucy Raymond
- , Michael R Stratton
- , Charles E Schwartz
- & Fatima E Abidi
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Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1
- Lars R Jensen
- , Wei Chen
- , Bettina Moser
- , Bettina Lipkowitz
- , Christopher Schroeder
- , Luciana Musante
- , Andreas Tzschach
- , Vera M Kalscheuer
- , Ilaria Meloni
- , Martine Raynaud
- , Hilde van Esch
- , Jamel Chelly
- , Arjan P M de Brouwer
- , Anna Hackett
- , Sigrun van der Haar
- , Wolfram Henn
- , Jozef Gecz
- , Olaf Riess
- , Michael Bonin
- , Richard Reinhardt
- , Hans-Hilger Ropers
- & Andreas W Kuss
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Research |
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Research |
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency
- Sandra Jansen
- , Alexander Hoischen
- , Bradley P. Coe
- , Gemma L. Carvill
- , Hilde Van Esch
- , Daniëlle G. M. Bosch
- , Ulla A. Andersen
- , Carl Baker
- , Marijke Bauters
- , Raphael A. Bernier
- , Bregje W. van Bon
- , Hedi L. Claahsen-van der Grinten
- , Jozef Gecz
- , Christian Gilissen
- , Lucia Grillo
- , Anna Hackett
- , Tjitske Kleefstra
- , David Koolen
- , Malin Kvarnung
- , Martin J. Larsen
- , Carlo Marcelis
- , Fiona McKenzie
- , Marie-Lorraine Monin
- , Caroline Nava
- , Janneke H. Schuurs-Hoeijmakers
- , Rolph Pfundt
- , Marloes Steehouwer
- , Servi J. C. Stevens
- , Connie T. Stumpel
- , Fleur Vansenne
- , Mirella Vinci
- , Maartje van de Vorst
- , Petra de Vries
- , Kali Witherspoon
- , Joris A. Veltman
- , Han G. Brunner
- , Heather C. Mefford
- , Corrado Romano
- , Lisenka E. L. M. Vissers
- , Evan E. Eichler
- & Bert B. A. de Vries
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Research |
Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation
- Patrick S Tarpey
- , F Lucy Raymond
- , Lam S Nguyen
- , Jayson Rodriguez
- , Anna Hackett
- , Lucianne Vandeleur
- , Raffaella Smith
- , Cheryl Shoubridge
- , Sarah Edkins
- , Claire Stevens
- , Sarah O'Meara
- , Calli Tofts
- , Syd Barthorpe
- , Gemma Buck
- , Jennifer Cole
- , Kelly Halliday
- , Katy Hills
- , David Jones
- , Tatiana Mironenko
- , Janet Perry
- , Jennifer Varian
- , Sofie West
- , Sara Widaa
- , John Teague
- , Ed Dicks
- , Adam Butler
- , Andrew Menzies
- , David Richardson
- , Andrew Jenkinson
- , Rebecca Shepherd
- , Keiran Raine
- , Jenny Moon
- , Yin Luo
- , Josep Parnau
- , Shambhu S Bhat
- , Alison Gardner
- , Mark Corbett
- , Doug Brooks
- , Paul Thomas
- , Emma Parkinson-Lawrence
- , Mary E Porteous
- , John P Warner
- , Tracy Sanderson
- , Pauline Pearson
- , Richard J Simensen
- , Cindy Skinner
- , George Hoganson
- , Duane Superneau
- , Richard Wooster
- , Martin Bobrow
- , Gillian Turner
- , Roger E Stevenson
- , Charles E Schwartz
- , P Andrew Futreal
- , Anand K Srivastava
- , Michael R Stratton
- & Jozef Gécz
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Research |
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
- Patrick S Tarpey
- , Raffaella Smith
- , Erin Pleasance
- , Annabel Whibley
- , Sarah Edkins
- , Claire Hardy
- , Sarah O'Meara
- , Calli Latimer
- , Ed Dicks
- , Andrew Menzies
- , Phil Stephens
- , Matt Blow
- , Chris Greenman
- , Yali Xue
- , Chris Tyler-Smith
- , Deborah Thompson
- , Kristian Gray
- , Jenny Andrews
- , Syd Barthorpe
- , Gemma Buck
- , Jennifer Cole
- , Rebecca Dunmore
- , David Jones
- , Mark Maddison
- , Tatiana Mironenko
- , Rachel Turner
- , Kelly Turrell
- , Jennifer Varian
- , Sofie West
- , Sara Widaa
- , Paul Wray
- , Jon Teague
- , Adam Butler
- , Andrew Jenkinson
- , Mingming Jia
- , David Richardson
- , Rebecca Shepherd
- , Richard Wooster
- , M Isabel Tejada
- , Francisco Martinez
- , Gemma Carvill
- , Rene Goliath
- , Arjan P M de Brouwer
- , Hans van Bokhoven
- , Hilde Van Esch
- , Jamel Chelly
- , Martine Raynaud
- , Hans-Hilger Ropers
- , Fatima E Abidi
- , Anand K Srivastava
- , James Cox
- , Ying Luo
- , Uma Mallya
- , Jenny Moon
- , Josef Parnau
- , Shehla Mohammed
- , John L Tolmie
- , Cheryl Shoubridge
- , Mark Corbett
- , Alison Gardner
- , Eric Haan
- , Sinitdhorn Rujirabanjerd
- , Marie Shaw
- , Lucianne Vandeleur
- , Tod Fullston
- , Douglas F Easton
- , Jackie Boyle
- , Michael Partington
- , Anna Hackett
- , Michael Field
- , Cindy Skinner
- , Roger E Stevenson
- , Martin Bobrow
- , Gillian Turner
- , Charles E Schwartz
- , Jozef Gecz
- , F Lucy Raymond
- , P Andrew Futreal
- & Michael R Stratton
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Research |
CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes
- Anna Hackett
- , Patrick S Tarpey
- , Andrea Licata
- , James Cox
- , Annabel Whibley
- , Jackie Boyle
- , Carolyn Rogers
- , John Grigg
- , Michael Partington
- , Roger E Stevenson
- , John Tolmie
- , John RW Yates
- , Gillian Turner
- , Meredith Wilson
- , Andrew P Futreal
- , Mark Corbett
- , Marie Shaw
- , Jozef Gecz
- , F Lucy Raymond
- , Michael R Stratton
- , Charles E Schwartz
- & Fatima E Abidi
