Tomas Fitzgerald

Tomas Fitzgerald

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Tomas Fitzgerald

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32Publications

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Comparison of Associations with Different Macular Inner Retinal Thickness Parameters in a Large Cohort: The UK Biobank.

Authors:
Anthony P Khawaja Sharon Chua Pirro G Hysi Stelios Georgoulas Hannah Currant Tomas W Fitzgerald Ewan Birney Fang Ko Qi Yang Charles Reisman David F Garway-Heath Chris J Hammond Peng T Khaw Paul J Foster Praveen J Patel Nicholas Strouthidis

Ophthalmology 2019 Aug 21. Epub 2019 Aug 21.

NIHR Biomedical Research Centre, Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, London, United Kingdom; Discipline of Clinical Ophthalmology and Eye Health, University of Sydney Medical School, Sydney, Australia.

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http://dx.doi.org/10.1016/j.ophtha.2019.08.015DOI Listing
August 2019

De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes.

Authors:
Nirmal Vadgama Alan Pittman Michael Simpson Niranjanan Nirmalananthan Robin Murray Takeo Yoshikawa Peter De Rijk Elliott Rees George Kirov Deborah Hughes Tomas Fitzgerald Mark Kristiansen Kerra Pearce Eliza Cerveira Qihui Zhu Chengsheng Zhang Charles Lee John Hardy Jamal Nasir

Eur J Hum Genet 2019 Jul 18;27(7):1121-1133. Epub 2019 Mar 18.

Cell Biology and Genetics Research Centre, St. George's University of London, London, UK.

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http://dx.doi.org/10.1038/s41431-019-0376-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6777616PMC
July 2019

Paternal exposure to benzo(a)pyrene induces genome-wide mutations in mouse offspring.

Authors:
Marc A Beal Matthew J Meier Andrew Williams Andrea Rowan-Carroll Rémi Gagné Sarah J Lindsay Tomas Fitzgerald Matthew E Hurles Francesco Marchetti Carole L Yauk

Commun Biol 2019 20;2:228. Epub 2019 Jun 20.

2Environmental Health Science and Research Bureau, Healthy Environments and Consumer Safety Branch, Health Canada, Ottawa, Ontario K1A 0K9 Canada.

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http://dx.doi.org/10.1038/s42003-019-0476-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6586636PMC
June 2019

Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders.

Authors:
Caroline F Wright Jeremy F McRae Stephen Clayton Giuseppe Gallone Stuart Aitken Tomas W FitzGerald Philip Jones Elena Prigmore Diana Rajan Jenny Lord Alejandro Sifrim Rosemary Kelsell Michael J Parker Jeffrey C Barrett Matthew E Hurles David R FitzPatrick Helen V Firth

Genet Med 2018 10 11;20(10):1216-1223. Epub 2018 Jan 11.

Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.

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http://dx.doi.org/10.1038/gim.2017.246DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5912505PMC
October 2018

The human leukemia virus HTLV-1 alters the structure and transcription of host chromatin in cis.

Authors:
Anat Melamed Hiroko Yaguchi Michi Miura Aviva Witkover Tomas W Fitzgerald Ewan Birney Charles Rm Bangham

Elife 2018 06 26;7. Epub 2018 Jun 26.

Division of Infectious Diseases, Imperial College London, London, United Kingdom.

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http://dx.doi.org/10.7554/eLife.36245DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6019074PMC
June 2018

ChromoTrace: Computational reconstruction of 3D chromosome configurations for super-resolution microscopy.

Authors:
Carl Barton Sandro Morganella Øyvind Ødegård-Fougner Stephanie Alexander Jonas Ries Tomas Fitzgerald Jan Ellenberg Ewan Birney

PLoS Comput Biol 2018 03 9;14(3):e1006002. Epub 2018 Mar 9.

European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Wellcome Genome Campus, Hinxton, Cambridge, United Kingdom.

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http://dx.doi.org/10.1371/journal.pcbi.1006002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5862484PMC
March 2018

Let's Starve Down to the Bone: Pro-anorexia Websites and the Law.

Authors:
Marilyn Bromberg Tomas Fitzgerald

J Law Med 2017 Nov;25(1):124-135

Senior Lecturer, School of Law, University of Notre Dame Australia.

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November 2017

Detection of structural mosaicism from targeted and whole-genome sequencing data.

Authors:
Daniel A King Alejandro Sifrim Tomas W Fitzgerald Raheleh Rahbari Emma Hobson Tessa Homfray Sahar Mansour Sarju G Mehta Mohammed Shehla Susan E Tomkins Pradeep C Vasudevan Matthew E Hurles

Genome Res 2017 10 30;27(10):1704-1714. Epub 2017 Aug 30.

Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, United Kingdom.

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http://dx.doi.org/10.1101/gr.212373.116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5630034PMC
October 2017

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

Authors:
Alejandro Sifrim Marc-Phillip Hitz Anna Wilsdon Jeroen Breckpot Saeed H Al Turki Bernard Thienpont Jeremy McRae Tomas W Fitzgerald Tarjinder Singh Ganesh Jawahar Swaminathan Elena Prigmore Diana Rajan Hashim Abdul-Khaliq Siddharth Banka Ulrike M M Bauer Jamie Bentham Felix Berger Shoumo Bhattacharya Frances Bu'Lock Natalie Canham Irina-Gabriela Colgiu Catherine Cosgrove Helen Cox Ingo Daehnert Allan Daly John Danesh Alan Fryer Marc Gewillig Emma Hobson Kirstin Hoff Tessa Homfray Anne-Karin Kahlert Ami Ketley Hans-Heiner Kramer Katherine Lachlan Anne Katrin Lampe Jacoba J Louw Ashok Kumar Manickara Dorin Manase Karen P McCarthy Kay Metcalfe Carmel Moore Ruth Newbury-Ecob Seham Osman Omer Willem H Ouwehand Soo-Mi Park Michael J Parker Thomas Pickardt Martin O Pollard Leema Robert David J Roberts Jennifer Sambrook Kerry Setchfield Brigitte Stiller Chris Thornborough Okan Toka Hugh Watkins Denise Williams Michael Wright Seema Mital Piers E F Daubeney Bernard Keavney Judith Goodship Riyadh Mahdi Abu-Sulaiman Sabine Klaassen Caroline F Wright Helen V Firth Jeffrey C Barrett Koenraad Devriendt David R FitzPatrick J David Brook Matthew E Hurles

Nat Genet 2016 09 1;48(9):1060-5. Epub 2016 Aug 1.

Wellcome Trust Sanger Institute, Cambridge, UK.

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http://dx.doi.org/10.1038/ng.3627DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5988037PMC
September 2016

Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences.

Authors:
G David Poznik Yali Xue Fernando L Mendez Thomas F Willems Andrea Massaia Melissa A Wilson Sayres Qasim Ayub Shane A McCarthy Apurva Narechania Seva Kashin Yuan Chen Ruby Banerjee Juan L Rodriguez-Flores Maria Cerezo Haojing Shao Melissa Gymrek Ankit Malhotra Sandra Louzada Rob Desalle Graham R S Ritchie Eliza Cerveira Tomas W Fitzgerald Erik Garrison Anthony Marcketta David Mittelman Mallory Romanovitch Chengsheng Zhang Xiangqun Zheng-Bradley Gonçalo R Abecasis Steven A McCarroll Paul Flicek Peter A Underhill Lachlan Coin Daniel R Zerbino Fengtang Yang Charles Lee Laura Clarke Adam Auton Yaniv Erlich Robert E Handsaker Carlos D Bustamante Chris Tyler-Smith

Nat Genet 2016 06 25;48(6):593-9. Epub 2016 Apr 25.

Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, UK.

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http://dx.doi.org/10.1038/ng.3559DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4884158PMC
June 2016

Recurrent duplications of 17q12 associated with variable phenotypes.

Authors:
Elyse Mitchell Andrew Douglas Susanne Kjaegaard Bert Callewaert Arnaud Vanlander Sandra Janssens Amy Lawson Yuen Cindy Skinner Pinella Failla Antonino Alberti Emanuela Avola Marco Fichera Maria Kibaek Maria C Digilio Mark C Hannibal Nicolette S den Hollander Veronica Bizzarri Alessandra Renieri Maria Antonietta Mencarelli Tomas Fitzgerald Serena Piazzolla Elke van Oudenhove Corrado Romano Charles Schwartz Evan E Eichler Anne Slavotinek Luis Escobar Diana Rajan John Crolla Nigel Carter Jennelle C Hodge Heather C Mefford

Am J Med Genet A 2015 Dec 30;167A(12):3038-45. Epub 2015 Sep 30.

Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, Washington.

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http://dx.doi.org/10.1002/ajmg.a.37351DOI Listing
December 2015

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.

Authors:
Nadia Akawi Jeremy McRae Morad Ansari Meena Balasubramanian Moira Blyth Angela F Brady Stephen Clayton Trevor Cole Charu Deshpande Tomas W Fitzgerald Nicola Foulds Richard Francis George Gabriel Sebastian S Gerety Judith Goodship Emma Hobson Wendy D Jones Shelagh Joss Daniel King Nikolai Klena Ajith Kumar Melissa Lees Chris Lelliott Jenny Lord Dominic McMullan Mary O'Regan Deborah Osio Virginia Piombo Elena Prigmore Diana Rajan Elisabeth Rosser Alejandro Sifrim Audrey Smith Ganesh J Swaminathan Peter Turnpenny James Whitworth Caroline F Wright Helen V Firth Jeffrey C Barrett Cecilia W Lo David R FitzPatrick Matthew E Hurles

Nat Genet 2015 Nov 5;47(11):1363-9. Epub 2015 Oct 5.

Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.

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http://www.nature.com/articles/ng.3410
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http://dx.doi.org/10.1038/ng.3410DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5988033PMC
November 2015

Copy number variation in the human Y chromosome in the UK population.

Authors:
Wei Wei Tomas W Fitzgerald Tomas Fitzgerald Qasim Ayub Andrea Massaia Blair H Smith Blair B Smith Anna F Dominiczak Anna A Dominiczak Andrew D Morris Andrew A Morris David J Porteous David D Porteous Matthew E Hurles Chris Tyler-Smith Yali Xue

Hum Genet 2015 Jul 10;134(7):789-800. Epub 2015 May 10.

The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, CB10 1SA, UK.

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http://dx.doi.org/10.1007/s00439-015-1562-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4460274PMC
July 2015

Erratum to: Copy number variation in the human Y chromosome in the UK population.

Authors:
Wei Wei Tomas W Fitzgerald Qasim Ayub Andrea Massaia Blair H Smith Anna F Dominiczak Andrew D Morris David J Porteous Matthew E Hurles Chris Tyler-Smith Yali Xue

Hum Genet 2015 Jul;134(7):801

The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, CB10 1SA, UK.

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http://dx.doi.org/10.1007/s00439-015-1565-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4643563PMC
July 2015

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data.

Authors:
Caroline F Wright Tomas W Fitzgerald Wendy D Jones Stephen Clayton Jeremy F McRae Margriet van Kogelenberg Daniel A King Kirsty Ambridge Daniel M Barrett Tanya Bayzetinova A Paul Bevan Eugene Bragin Eleni A Chatzimichali Susan Gribble Philip Jones Netravathi Krishnappa Laura E Mason Ray Miller Katherine I Morley Vijaya Parthiban Elena Prigmore Diana Rajan Alejandro Sifrim G Jawahar Swaminathan Adrian R Tivey Anna Middleton Michael Parker Nigel P Carter Jeffrey C Barrett Matthew E Hurles David R FitzPatrick Helen V Firth

Lancet 2015 Apr 17;385(9975):1305-14. Epub 2014 Dec 17.

Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK; Cambridge University Hospitals Foundation Trust, Addenbrooke's Hospital, Cambridge, UK.

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http://www.thelancet.com/pdfs/journals/lancet/PIIS0140-6736(
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http://linkinghub.elsevier.com/retrieve/pii/S014067361461705
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http://dx.doi.org/10.1016/S0140-6736(14)61705-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4392068PMC
April 2015

A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders.

Authors:
Daniel A King Tomas W Fitzgerald Ray Miller Natalie Canham Jill Clayton-Smith Diana Johnson Sahar Mansour Fiona Stewart Pradeep Vasudevan Matthew E Hurles

Genome Res 2014 Apr 19;24(4):673-87. Epub 2013 Dec 19.

Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1HH, United Kingdom;

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http://dx.doi.org/10.1101/gr.160465.113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3975066PMC
April 2014

Massively parallel sequencing reveals the complex structure of an irradiated human chromosome on a mouse background in the Tc1 model of Down syndrome.

Authors:
Susan M Gribble Frances K Wiseman Stephen Clayton Elena Prigmore Elizabeth Langley Fengtang Yang Sean Maguire Beiyuan Fu Diana Rajan Olivia Sheppard Carol Scott Heidi Hauser Philip J Stephens Lucy A Stebbings Bee Ling Ng Tomas Fitzgerald Michael A Quail Ruby Banerjee Kai Rothkamm Victor L J Tybulewicz Elizabeth M C Fisher Nigel P Carter

PLoS One 2013 15;8(4):e60482. Epub 2013 Apr 15.

Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, United Kingdom.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0060482PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3626651PMC
October 2013

Large scale variation in DNA copy number in chicken breeds.

Authors:
Richard P M A Crooijmans Mark S Fife Tomas W Fitzgerald Shurnevia Strickland Hans H Cheng Pete Kaiser Richard Redon Martien A M Groenen

BMC Genomics 2013 Jun 13;14:398. Epub 2013 Jun 13.

Animal Breeding and Genomics Centre, Wageningen University, P.O. Box 338, Wageningen 6700 AH, The Netherlands.

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http://dx.doi.org/10.1186/1471-2164-14-398DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3751642PMC
June 2013

Genetic basis of Y-linked hearing impairment.

Authors:
Qiuju Wang Yali Xue Yujun Zhang Quan Long Asan Fengtang Yang Daniel J Turner Tomas Fitzgerald Bee Ling Ng Yali Zhao Yuan Chen Qingjie Liu Weiyan Yang Dongyi Han Michael A Quail Harold Swerdlow John Burton Ciara Fahey Zemin Ning Matthew E Hurles Nigel P Carter Huanming Yang Chris Tyler-Smith

Am J Hum Genet 2013 Feb 24;92(2):301-6. Epub 2013 Jan 24.

Department of Otolaryngology, Head and Neck Surgery, Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, China.

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https://linkinghub.elsevier.com/retrieve/pii/S00029297130002
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http://dx.doi.org/10.1016/j.ajhg.2012.12.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3567277PMC
February 2013

Mobilization of giant piggyBac transposons in the mouse genome.

Authors:
Meng Amy Li Daniel J Turner Zemin Ning Kosuke Yusa Qi Liang Sabine Eckert Lena Rad Tomas W Fitzgerald Nancy L Craig Allan Bradley

Nucleic Acids Res 2011 Dec 24;39(22):e148. Epub 2011 Sep 24.

Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK, CB10 1SA.

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https://academic.oup.com/nar/article/39/22/e148/2409515
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http://dx.doi.org/10.1093/nar/gkr764DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3239208PMC
December 2011

FoSTeS, MMBIR and NAHR at the human proximal Xp region and the mechanisms of human Xq isochromosome formation.

Authors:
George Koumbaris Hariklia Hatzisevastou-Loukidou Angelos Alexandrou Marios Ioannides Christodoulos Christodoulou Tomas Fitzgerald Diana Rajan Stephen Clayton Sophia Kitsiou-Tzeli Joris R Vermeesch Nicos Skordis Pavlos Antoniou Ants Kurg Ioannis Georgiou Nigel P Carter Philippos C Patsalis

Hum Mol Genet 2011 May 24;20(10):1925-36. Epub 2011 Feb 24.

Department of Medical Genetics, University Medical Center Utrecht, Universiteitsweg 100, 3584 CG Utrecht, The Netherlands.

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http://dx.doi.org/10.1093/hmg/ddr074DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3428953PMC
May 2011

aCGH.Spline--an R package for aCGH dye bias normalization.

Authors:
Tomas W Fitzgerald Lee D Larcombe Solena Le Scouarnec Stephen Clayton Diana Rajan Nigel P Carter Richard Redon

Bioinformatics 2011 May 25;27(9):1195-200. Epub 2011 Feb 25.

Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.

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http://dx.doi.org/10.1093/bioinformatics/btr107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3077069PMC
May 2011

High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasia.

Authors:
Serena Nik-Zainal Reiner Strick Mekayla Storer Ni Huang Roland Rad Lionel Willatt Tomas Fitzgerald Vicki Martin Richard Sandford Nigel P Carter Andreas R Janecke Stefan P Renner Patricia G Oppelt Peter Oppelt Christine Schulze Sara Brucker Matthew Hurles Matthias W Beckmann Pamela L Strissel Charles Shaw-Smith

J Med Genet 2011 Mar 28;48(3):197-204. Epub 2011 Jan 28.

Department of Obstetrics and Gynecology, University-Clinic Erlangen, Erlangen, Germany.

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http://jmg.bmj.com/cgi/doi/10.1136/jmg.2010.082412
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http://dx.doi.org/10.1136/jmg.2010.082412DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3322361PMC
March 2011

Origins and functional impact of copy number variation in the human genome.

Authors:
Donald F Conrad Dalila Pinto Richard Redon Lars Feuk Omer Gokcumen Yujun Zhang Jan Aerts T Daniel Andrews Chris Barnes Peter Campbell Tomas Fitzgerald Min Hu Chun Hwa Ihm Kati Kristiansson Daniel G Macarthur Jeffrey R Macdonald Ifejinelo Onyiah Andy Wing Chun Pang Sam Robson Kathy Stirrups Armand Valsesia Klaudia Walter John Wei Chris Tyler-Smith Nigel P Carter Charles Lee Stephen W Scherer Matthew E Hurles

Nature 2010 Apr 7;464(7289):704-12. Epub 2009 Oct 7.

The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA UK.

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http://dx.doi.org/10.1038/nature08516DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3330748PMC
April 2010

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls.

Authors:
Nick Craddock Matthew E Hurles Niall Cardin Richard D Pearson Vincent Plagnol Samuel Robson Damjan Vukcevic Chris Barnes Donald F Conrad Eleni Giannoulatou Chris Holmes Jonathan L Marchini Kathy Stirrups Martin D Tobin Louise V Wain Chris Yau Jan Aerts Tariq Ahmad T Daniel Andrews Hazel Arbury Anthony Attwood Adam Auton Stephen G Ball Anthony J Balmforth Jeffrey C Barrett Inês Barroso Anne Barton Amanda J Bennett Sanjeev Bhaskar Katarzyna Blaszczyk John Bowes Oliver J Brand Peter S Braund Francesca Bredin Gerome Breen Morris J Brown Ian N Bruce Jaswinder Bull Oliver S Burren John Burton Jake Byrnes Sian Caesar Chris M Clee Alison J Coffey John M C Connell Jason D Cooper Anna F Dominiczak Kate Downes Hazel E Drummond Darshna Dudakia Andrew Dunham Bernadette Ebbs Diana Eccles Sarah Edkins Cathryn Edwards Anna Elliot Paul Emery David M Evans Gareth Evans Steve Eyre Anne Farmer I Nicol Ferrier Lars Feuk Tomas Fitzgerald Edward Flynn Alistair Forbes Liz Forty Jayne A Franklyn Rachel M Freathy Polly Gibbs Paul Gilbert Omer Gokumen Katherine Gordon-Smith Emma Gray Elaine Green Chris J Groves Detelina Grozeva Rhian Gwilliam Anita Hall Naomi Hammond Matt Hardy Pile Harrison Neelam Hassanali Husam Hebaishi Sarah Hines Anne Hinks Graham A Hitman Lynne Hocking Eleanor Howard Philip Howard Joanna M M Howson Debbie Hughes Sarah Hunt John D Isaacs Mahim Jain Derek P Jewell Toby Johnson Jennifer D Jolley Ian R Jones Lisa A Jones George Kirov Cordelia F Langford Hana Lango-Allen G Mark Lathrop James Lee Kate L Lee Charlie Lees Kevin Lewis Cecilia M Lindgren Meeta Maisuria-Armer Julian Maller John Mansfield Paul Martin Dunecan C O Massey Wendy L McArdle Peter McGuffin Kirsten E McLay Alex Mentzer Michael L Mimmack Ann E Morgan Andrew P Morris Craig Mowat Simon Myers William Newman Elaine R Nimmo Michael C O'Donovan Abiodun Onipinla Ifejinelo Onyiah Nigel R Ovington Michael J Owen Kimmo Palin Kirstie Parnell David Pernet John R B Perry Anne Phillips Dalila Pinto Natalie J Prescott Inga Prokopenko Michael A Quail Suzanne Rafelt Nigel W Rayner Richard Redon David M Reid Renwick Susan M Ring Neil Robertson Ellie Russell David St Clair Jennifer G Sambrook Jeremy D Sanderson Helen Schuilenburg Carol E Scott Richard Scott Sheila Seal Sue Shaw-Hawkins Beverley M Shields Matthew J Simmonds Debbie J Smyth Elilan Somaskantharajah Katarina Spanova Sophia Steer Jonathan Stephens Helen E Stevens Millicent A Stone Zhan Su Deborah P M Symmons John R Thompson Wendy Thomson Mary E Travers Clare Turnbull Armand Valsesia Mark Walker Neil M Walker Chris Wallace Margaret Warren-Perry Nicholas A Watkins John Webster Michael N Weedon Anthony G Wilson Matthew Woodburn B Paul Wordsworth Allan H Young Eleftheria Zeggini Nigel P Carter Timothy M Frayling Charles Lee Gil McVean Patricia B Munroe Aarno Palotie Stephen J Sawcer Stephen W Scherer David P Strachan Chris Tyler-Smith Matthew A Brown Paul R Burton Mark J Caulfield Alastair Compston Martin Farrall Stephen C L Gough Alistair S Hall Andrew T Hattersley Adrian V S Hill Christopher G Mathew Marcus Pembrey Jack Satsangi Michael R Stratton Jane Worthington Panos Deloukas Audrey Duncanson Dominic P Kwiatkowski Mark I McCarthy Willem Ouwehand Miles Parkes Nazneen Rahman John A Todd Nilesh J Samani Peter Donnelly

Nature 2010 Apr;464(7289):713-20

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http://dx.doi.org/10.1038/nature08979DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2892339PMC
April 2010

Array painting: a protocol for the rapid analysis of aberrant chromosomes using DNA microarrays.

Authors:
Susan M Gribble Bee Ling Ng Elena Prigmore Tomas Fitzgerald Nigel P Carter

Nat Protoc 2009 5;4(12):1722-36. Epub 2009 Nov 5.

Human Genetics, Sulston Laboratories, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.

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http://dx.doi.org/10.1038/nprot.2009.183DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3330750PMC
February 2010

Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators.

Authors:
Gaia Gestri Robert J Osborne Alexander W Wyatt Dianne Gerrelli Susan Gribble Helen Stewart Alan Fryer David J Bunyan Katrina Prescott J Richard O Collin Tomas Fitzgerald David Robinson Nigel P Carter Stephen W Wilson Nicola K Ragge

Hum Genet 2009 Dec;126(6):791-803

Department of Cell and Developmental Biology, UCL, London, UK.

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http://link.springer.com/10.1007/s00439-009-0730-x
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http://dx.doi.org/10.1007/s00439-009-0730-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3083835PMC
December 2009

Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations.

Authors:
Paweł Stankiewicz Partha Sen Samarth S Bhatt Mekayla Storer Zhilian Xia Bassem A Bejjani Zhishuo Ou Joanna Wiszniewska Daniel J Driscoll Melissa K Maisenbacher Juan Bolivar Mislen Bauer Elaine H Zackai Donna McDonald-McGinn Małgorzata M J Nowaczyk Mitzi Murray Virginia Hustead Kristin Mascotti Regina Schultz Lavinia Hallam Duncan McRae Andrew G Nicholson Robert Newbury Jane Durham-O'Donnell Gail Knight Usha Kini Tamim H Shaikh Vicki Martin Matthew Tyreman Ingrid Simonic Lionel Willatt Joan Paterson Sarju Mehta Diana Rajan Tomas Fitzgerald Susan Gribble Elena Prigmore Ankita Patel Lisa G Shaffer Nigel P Carter Sau Wai Cheung Claire Langston Charles Shaw-Smith

Am J Hum Genet 2009 Jun 4;84(6):780-91. Epub 2009 Jun 4.

Dept of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1016/j.ajhg.2009.05.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2694971PMC
June 2009

Comparative genomic hybridization: DNA labeling, hybridization and detection.

Authors:
Richard Redon Tomas Fitzgerald Nigel P Carter

Methods Mol Biol 2009 ;529:267-78

Wellcome Trust, Sanger Institute, Cambridge, UK.

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http://dx.doi.org/10.1007/978-1-59745-538-1_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2867219PMC
May 2009

Copy number variation and evolution in humans and chimpanzees.

Authors:
George H Perry Fengtang Yang Tomas Marques-Bonet Carly Murphy Tomas Fitzgerald Arthur S Lee Courtney Hyland Anne C Stone Matthew E Hurles Chris Tyler-Smith Evan E Eichler Nigel P Carter Charles Lee Richard Redon

Genome Res 2008 Nov 4;18(11):1698-710. Epub 2008 Sep 4.

School of Human Evolution & Social Change, Arizona State University, Tempe, Arizona 85287, USA.

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http://dx.doi.org/10.1101/gr.082016.108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2577862PMC
November 2008

A robust statistical method for case-control association testing with copy number variation.

Authors:
Chris Barnes Vincent Plagnol Tomas Fitzgerald Richard Redon Jonathan Marchini David Clayton Matthew E Hurles

Nat Genet 2008 Oct 7;40(10):1245-52. Epub 2008 Sep 7.

Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK.

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http://dx.doi.org/10.1038/ng.206DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2784596PMC
October 2008

Breaking the waves: improved detection of copy number variation from microarray-based comparative genomic hybridization.

Authors:
John C Marioni Natalie P Thorne Armand Valsesia Tomas Fitzgerald Richard Redon Heike Fiegler T Daniel Andrews Barbara E Stranger Andrew G Lynch Emmanouil T Dermitzakis Nigel P Carter Simon Tavaré Matthew E Hurles

Genome Biol 2007 ;8(10):R228

Computational Biology Group, Department of Applied Mathematics and Theoretical Physics, University of Cambridge, Centre for Mathematical Sciences, Wilberforce Road, Cambridge CB3 0WA, UK.

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http://dx.doi.org/10.1186/gb-2007-8-10-r228DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2246302PMC
May 2008