Publications by authors named "Viv K Maloney"

10Publications

Incomplete penetrance, variable expressivity, or dosage insensitivity in four families with directly transmitted unbalanced chromosome abnormalities.

Authors:
Mark S Bateman Morag N Collinson David J Bunyan Amanda L Collins Philippa Duncan Rachel Firth Victoria Harrison Tessa Homfray Shuwen Huang Beth Kirk Katherine L Lachlan Viv K Maloney John C K Barber

Am J Med Genet A 2018 02 1;176(2):319-329. Epub 2017 Dec 1.

Department of Human Genetics and Genomic Medicine, University of Southampton, Southampton General Hospital, Southampton, UK.

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February 2018

8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients.

Authors:
John C K Barber Jill A Rosenfeld Nicola Foulds Sophie Laird Mark S Bateman N Simon Thomas Samantha Baker Viv K Maloney Arayamparambil Anilkumar Wendy E Smith Valerie Banks Sara Ellingwood Yara Kharbutli Lakshmi Mehta Keith A Eddleman Michael Marble Regina Zambrano John A Crolla Allen N Lamb

Am J Med Genet A 2013 Mar 23;161A(3):487-500. Epub 2013 Jan 23.

Faculty of Medicine, Department of Human Genetics and Genomic Medicine, University of Southampton, Southampton General Hospital, Southampton, UK.

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March 2013

16p11.2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2.

Authors:
John C K Barber Victoria Hall Viv K Maloney Shuwen Huang Angharad M Roberts Angela F Brady Nicki Foulds Beverley Bewes Marianne Volleth Thomas Liehr Karl Mehnert Mark Bateman Helen White

Eur J Hum Genet 2013 Feb 25;21(2):182-9. Epub 2012 Jul 25.

Department of Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton General Hospital, Southampton, Hampshire, UK.

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February 2013

8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families.

Authors:
John Ck Barber Dave Bunyan Merryl Curtis Denise Robinson Susanne Morlot Anette Dermitzel Thomas Liehr Claudia Alves Joana Trindade Ana I Paramos Clare Cooper Kevin Ocraft Emma-Jane Taylor Viv K Maloney

Mol Cytogenet 2010 Feb 18;3. Epub 2010 Feb 18.

Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury, SP2 8BJ, UK.

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February 2010

Inverted duplication of 1q32.1 to 1q44 characterized by array CGH and review of distal 1q partial trisomy.

Authors:
Meena Balasubramanian John C K Barber Morag N Collinson Shuwen Huang Viv K Maloney Dave Bunyan Nicki Foulds

Am J Med Genet A 2009 Feb;149A(4):793-7

Wessex Clinical Genetics Service, Southampton University Hospitals Trust, Princess Anne Hospital, Southampton, UK.

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February 2009

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.

Authors:
Heather C Mefford Andrew J Sharp Carl Baker Andy Itsara Zhaoshi Jiang Karen Buysse Shuwen Huang Viv K Maloney John A Crolla Diana Baralle Amanda Collins Catherine Mercer Koen Norga Thomy de Ravel Koen Devriendt Ernie M H F Bongers Nicole de Leeuw William Reardon Stefania Gimelli Frederique Bena Raoul C Hennekam Alison Male Lorraine Gaunt Jill Clayton-Smith Ingrid Simonic Soo Mi Park Sarju G Mehta Serena Nik-Zainal C Geoffrey Woods Helen V Firth Georgina Parkin Marco Fichera Santina Reitano Mariangela Lo Giudice Kelly E Li Iris Casuga Adam Broomer Bernard Conrad Markus Schwerzmann Lorenz Räber Sabina Gallati Pasquale Striano Antonietta Coppola John L Tolmie Edward S Tobias Chris Lilley Lluis Armengol Yves Spysschaert Patrick Verloo Anja De Coene Linde Goossens Geert Mortier Frank Speleman Ellen van Binsbergen Marcel R Nelen Ron Hochstenbach Martin Poot Louise Gallagher Michael Gill Jon McClellan Mary-Claire King Regina Regan Cindy Skinner Roger E Stevenson Stylianos E Antonarakis Caifu Chen Xavier Estivill Björn Menten Giorgio Gimelli Susan Gribble Stuart Schwartz James S Sutcliffe Tom Walsh Samantha J L Knight Jonathan Sebat Corrado Romano Charles E Schwartz Joris A Veltman Bert B A de Vries Joris R Vermeesch John C K Barber Lionel Willatt May Tassabehji Evan E Eichler

N Engl J Med 2008 Oct 10;359(16):1685-99. Epub 2008 Sep 10.

University of Washington School of Medicine, Seattle 98195, USA.

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October 2008

Transmitted duplication of 8p23.1-8p23.2 associated with speech delay, autism and learning difficulties.

Authors:
Mary Glancy Angela Barnicoat Rajan Vijeratnam Sharon de Souza Joanne Gilmore Shuwen Huang Viv K Maloney N Simon Thomas David J Bunyan Ann Jackson John C K Barber

Eur J Hum Genet 2009 Jan 20;17(1):37-43. Epub 2008 Aug 20.

North East London Regional Cytogenetics Laboratory, Great Ormond Street Hospital NHS Trust, London, UK.

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January 2009

8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH.

Authors:
John C K Barber Viv K Maloney Shuwen Huang David J Bunyan Lara Cresswell Esther Kinning Anna Benson Tim Cheetham Jonathan Wyllie Sally Ann Lynch Simon Zwolinski Laura Prescott Yanick Crow Rob Morgan Emma Hobson

Eur J Hum Genet 2008 Jan 17;16(1):18-27. Epub 2007 Oct 17.

National Genetics Reference Laboratory (Wessex), Salisbury NHS Foundation Trust, Salisbury, Wiltshire, UK.

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January 2008

Transmitted duplication of 12q21.32-12q22 includes 48 genes and has no apparent phenotypic consequences.

Authors:
John C K Barber Viv K Maloney Maria Kirchhoff N Simon Thomas Tracy A Boyle Bruce Castle

Am J Med Genet A 2007 Mar;143A(6):615-8

Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury District Hospital, Salisbury.

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March 2007

Deletions of 2q14 that include the homeobox engrailed 1 (EN1) transcription factor are compatible with a normal phenotype.

Authors:
John C K Barber Viv K Maloney Beverley Bewes Emma Wakeling

Eur J Hum Genet 2006 Jun;14(6):739-43

Wessex Regional Genetics Laboratory, Salisbury Health Care NHS Trust, Salisbury District Hospital, Salisbury, UK.

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June 2006