Eamonn Sheridan

Eamonn Sheridan

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Eamonn Sheridan

Publications by authors named "Eamonn Sheridan"

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Germline TET2 Loss-Of-Function Causes Childhood Immunodeficiency And Lymphoma.

Authors:
Jarmila Stremenova Spegarova Dylan Lawless Siti Mardhiana Binti Mohamad Karin Regine Engelhardt Gina M Doody Jennifer Shrimpton Anne Rensing-Ehl Stephan Ehl Frederic Rieux-Laucat Catherine Cargo Helen Griffin Aneta Mikulasova Meghan Acres Neil V Morgan James A Poulter Eamonn Sheridan Philip Chetcuti Sean O'Riordan Rashida Anwar Clive R Carter Stefan Przyborski Kevin Windebank Andrew J Cant Majlinda Lako Chris Bacon Sinisa Savic Sophie Hambleton

Blood 2020 Jun 9. Epub 2020 Jun 9.

Department of Clinical Immunology and Allergy, St James's University Hospital, United Kingdom.

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http://dx.doi.org/10.1182/blood.2020005844DOI Listing
June 2020

Novel loss-of-function mutation in is associated with severe developmental delay and paediatric lethality.

Authors:
Marilena Elpidorou Sunayna Best James A Poulter Verity Hartill Emma Hobson Eamonn Sheridan Colin A Johnson

J Med Genet 2020 Jun 22. Epub 2020 Jun 22.

Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, West Yorkshire, UK

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http://dx.doi.org/10.1136/jmedgenet-2020-106873DOI Listing
June 2020

A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.

Authors:
Sara Cuvertino Verity Hartill Alice Colyer Terence Garner Nisha Nair Lihadh Al-Gazali Natalie Canham Victor Faundes Frances Flinter Jozef Hertecant Muriel Holder-Espinasse Brian Jackson Sally Ann Lynch Fatima Nadat Vagheesh M Narasimhan Michelle Peckham Robert Sellers Marco Seri Francesca Montanari Laura Southgate Gabriella Maria Squeo Richard Trembath David van Heel Santina Venuto Daniel Weisberg Karen Stals Sian Ellard Anne Barton Susan J Kimber Eamonn Sheridan Giuseppe Merla Adam Stevens Colin A Johnson Siddharth Banka

Genet Med 2020 May 17;22(5):867-877. Epub 2020 Jan 17.

Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine, and Health, The University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1038/s41436-019-0743-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7200597PMC
May 2020

Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.

Authors:
Sara Cuvertino Verity Hartill Alice Colyer Terence Garner Nisha Nair Lihadh Al-Gazali Natalie Canham Victor Faundes Frances Flinter Jozef Hertecant Muriel Holder-Espinasse Brian Jackson Sally Ann Lynch Fatima Nadat Vagheesh M Narasimhan Michelle Peckham Robert Sellers Marco Seri Francesca Montanari Laura Southgate Gabriella Maria Squeo Richard Trembath David van Heel Santina Venuto Daniel Weisberg Karen Stals Sian Ellard Anne Barton Susan J Kimber Eamonn Sheridan Giuseppe Merla Adam Stevens Colin A Johnson Siddharth Banka

Genet Med 2020 May;22(5):980

Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine, and Health, The University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1038/s41436-020-0784-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7200592PMC
May 2020

Enhancing inclusion of diverse populations in genomics: A competence framework.

Authors:
Saghira M Sharif Moira Blyth Mushtaq Ahmed Eamonn Sheridan Roiyah Saltus Juping Yu Emma Tonkin Maggie Kirk

J Genet Couns 2020 Apr;29(2):282-292

Genomics Policy Unit, Faculty of Life Sciences & Education, University of South Wales, Newport, UK.

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http://dx.doi.org/10.1002/jgc4.1263DOI Listing
April 2020

Cas9-based enrichment and single-molecule sequencing for precise characterization of genomic duplications.

Authors:
Christopher M Watson Laura A Crinnion Sarah Hewitt Jennifer Bates Rachel Robinson Ian M Carr Eamonn Sheridan Julian Adlard David T Bonthron

Lab Invest 2020 01 4;100(1):135-146. Epub 2019 Jul 4.

Yorkshire Regional Genetics Service, St. James's University Hospital, Leeds, LS9 7TF, UK.

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http://dx.doi.org/10.1038/s41374-019-0283-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6923135PMC
January 2020

Chorea-related mutations in PDE10A result in aberrant compartmentalization and functionality of the enzyme.

Authors:
Gonzalo S Tejeda Ellanor L Whiteley Tarek Z Deeb Roland W Bürli Stephen J Moss Eamonn Sheridan Nicholas J Brandon George S Baillie

Proc Natl Acad Sci U S A 2020 01 23;117(1):677-688. Epub 2019 Dec 23.

Institute of Cardiovascular and Medical Science, University of Glasgow, G12 8QQ Glasgow, United Kingdom;

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http://dx.doi.org/10.1073/pnas.1916398117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6955301PMC
January 2020

PEDIA: prioritization of exome data by image analysis.

Authors:
Tzung-Chien Hsieh Martin A Mensah Jean T Pantel Dione Aguilar Omri Bar Allan Bayat Luis Becerra-Solano Heidi B Bentzen Saskia Biskup Oleg Borisov Oivind Braaten Claudia Ciaccio Marie Coutelier Kirsten Cremer Magdalena Danyel Svenja Daschkey Hilda David Eden Koenraad Devriendt Sandra Wilson Sofia Douzgou Dejan Đukić Nadja Ehmke Christine Fauth Björn Fischer-Zirnsak Nicole Fleischer Heinz Gabriel Luitgard Graul-Neumann Karen W Gripp Yaron Gurovich Asya Gusina Nechama Haddad Nurulhuda Hajjir Yair Hanani Jakob Hertzberg Konstanze Hoertnagel Janelle Howell Ivan Ivanovski Angela Kaindl Tom Kamphans Susanne Kamphausen Catherine Karimov Hadil Kathom Anna Keryan Alexej Knaus Sebastian Köhler Uwe Kornak Alexander Lavrov Maximilian Leitheiser Gholson J Lyon Elisabeth Mangold Purificación Marín Reina Antonio Martinez Carrascal Diana Mitter Laura Morlan Herrador Guy Nadav Markus Nöthen Alfredo Orrico Claus-Eric Ott Kristen Park Borut Peterlin Laura Pölsler Annick Raas-Rothschild Linda Randolph Nicole Revencu Christina Ringmann Fagerberg Peter Nick Robinson Stanislav Rosnev Sabine Rudnik Gorazd Rudolf Ulrich Schatz Anna Schossig Max Schubach Or Shanoon Eamonn Sheridan Pola Smirin-Yosef Malte Spielmann Eun-Kyung Suk Yves Sznajer Christian T Thiel Gundula Thiel Alain Verloes Irena Vrecar Dagmar Wahl Ingrid Weber Korina Winter Marzena Wiśniewska Bernd Wollnik Ming W Yeung Max Zhao Na Zhu Johannes Zschocke Stefan Mundlos Denise Horn Peter M Krawitz

Genet Med 2019 12 5;21(12):2807-2814. Epub 2019 Jun 5.

Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1038/s41436-019-0566-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6892739PMC
December 2019

Differentiation of MISSLA and Fanconi anaemia by computer-aided image analysis and presentation of two novel MISSLA siblings.

Authors:
Magdalena Danyel Zhuo Cheng Christine Jung Felix Boschann Jean Tori Pantel Nurulhuda Hajjir Ricarda Flöttmann Solveig Schulz Ilja Demuth Eamonn Sheridan Stefan Mundlos Denise Horn Martin A Mensah

Eur J Hum Genet 2019 12 18;27(12):1827-1835. Epub 2019 Jul 18.

Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany.

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http://dx.doi.org/10.1038/s41431-019-0469-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6871132PMC
December 2019

Author Correction: Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemia.

Authors:
Jayaram Vijayakrishnan James Studd Peter Broderick Ben Kinnersley Amy Holroyd Philip J Law Rajiv Kumar James M Allan Christine J Harrison Anthony V Moorman Ajay Vora Eve Roman Sivaramakrishna Rachakonda Sally E Kinsey Eamonn Sheridan Pamela D Thompson Julie A Irving Rolf Koehler Per Hoffmann Markus M Nöthen Stefanie Heilmann-Heimbach Karl-Heinz Jöckel Douglas F Easton Paul D P Pharaoh Alison M Dunning Julian Peto Frederico Canzian Anthony Swerdlow Rosalind A Eeles Zsofia Kote-Jarai Kenneth Muir Nora Pashayan Mel Greaves Martin Zimmerman Claus R Bartram Martin Schrappe Martin Stanulla Kari Hemminki Richard S Houlston

Nat Commun 2019 01 21;10(1):419. Epub 2019 Jan 21.

Division of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, Surrey, SM2 5NG, UK.

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http://www.nature.com/articles/s41467-018-08106-9
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http://dx.doi.org/10.1038/s41467-018-08106-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6341085PMC
January 2019

Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects.

Authors:
Serge Bonnefoy Christopher M Watson Kristin D Kernohan Moara Lemos Sebastian Hutchinson James A Poulter Laura A Crinnion Ian Berry Jennifer Simmonds Pradeep Vasudevan Chris O'Callaghan Robert A Hirst Andrew Rutman Lijia Huang Taila Hartley David Grynspan Eduardo Moya Chunmei Li Ian M Carr David T Bonthron Michel Leroux Kym M Boycott Philippe Bastin Eamonn G Sheridan

Am J Hum Genet 2018 11;103(5):727-739

Yorkshire Regional Genetics Service, St. James's University Hospital, Leeds LS9 7TF, UK; School of Medicine, University of Leeds, St. James's University Hospital, Leeds LS9 7TF, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183035
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http://dx.doi.org/10.1016/j.ajhg.2018.10.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6218757PMC
November 2018

Use of zebrafish models to investigate rare human disease.

Authors:
Kathryn Isabel Adamson Eamonn Sheridan Andrew James Grierson

J Med Genet 2018 10 31;55(10):641-649. Epub 2018 Jul 31.

Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, UK.

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http://dx.doi.org/10.1136/jmedgenet-2018-105358DOI Listing
October 2018

Whole Exon Deletion in the GFAP Gene Is a Novel Molecular Mechanism Causing Alexander Disease.

Authors:
Lydia Green Ian R Berry Anne-Marie Childs Helen McCullagh Sandhya Jose Dan Warren Ian Craven Nick Camm Katrina Prescott Marjo S van der Knaap Eamonn Sheridan John H Livingston

Neuropediatrics 2018 04 18;49(2):118-122. Epub 2017 Dec 18.

Department of Paediatric Neurology, Leeds Teaching Hospitals NHS Trust, Leeds, United Kingdom.

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http://dx.doi.org/10.1055/s-0037-1608921DOI Listing
April 2018

Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemia.

Authors:
Jayaram Vijayakrishnan James Studd Peter Broderick Ben Kinnersley Amy Holroyd Philip J Law Rajiv Kumar James M Allan Christine J Harrison Anthony V Moorman Ajay Vora Eve Roman Sivaramakrishna Rachakonda Sally E Kinsey Eamonn Sheridan Pamela D Thompson Julie A Irving Rolf Koehler Per Hoffmann Markus M Nöthen Stefanie Heilmann-Heimbach Karl-Heinz Jöckel Douglas F Easton Paul D P Pharaoh Alison M Dunning Julian Peto Frederico Canzian Anthony Swerdlow Rosalind A Eeles ZSofia Kote-Jarai Kenneth Muir Nora Pashayan Mel Greaves Martin Zimmerman Claus R Bartram Martin Schrappe Martin Stanulla Kari Hemminki Richard S Houlston

Nat Commun 2018 04 9;9(1):1340. Epub 2018 Apr 9.

Division of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, Surrey, SM2 5NG, UK.

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http://dx.doi.org/10.1038/s41467-018-03178-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5890276PMC
April 2018

High prevalence of p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations.

Authors:
Amelia Shoemark Eduardo Moya Robert A Hirst Mitali P Patel Evelyn A Robson Jane Hayward Juliet Scully Mahmoud R Fassad William Lamb Miriam Schmidts Mellisa Dixon Ramila S Patel-King Andrew V Rogers Andrew Rutman Claire L Jackson Patricia Goggin Bruna Rubbo Sarah Ollosson Siobhán Carr Woolf Walker Beryl Adler Michael R Loebinger Robert Wilson Andrew Bush Hywel Williams Christopher Boustred Lucy Jenkins Eamonn Sheridan Eddie M K Chung Christopher M Watson Thomas Cullup Jane S Lucas Priti Kenia Christopher O'Callaghan Stephen M King Claire Hogg Hannah M Mitchison

Thorax 2018 02 8;73(2):157-166. Epub 2017 Aug 8.

Genetics and Genomic Medicine, University College London, UCL Great Ormond Street Institute of Child Health, London, UK.

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http://dx.doi.org/10.1136/thoraxjnl-2017-209999DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5771957PMC
February 2018

DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport.

Authors:
Verity L Hartill Glenn van de Hoek Mitali P Patel Rosie Little Christopher M Watson Ian R Berry Amelia Shoemark Dina Abdelmottaleb Emma Parkes Chiara Bacchelli Katarzyna Szymanska Nine V Knoers Peter J Scambler Marius Ueffing Karsten Boldt Robert Yates Paul J Winyard Beryl Adler Eduardo Moya Louise Hattingh Anil Shenoy Claire Hogg Eamonn Sheridan Ronald Roepman Dominic Norris Hannah M Mitchison Rachel H Giles Colin A Johnson

Hum Mol Genet 2018 02;27(3):529-545

Leeds Institute of Biomedical and Clinical Sciences, Faculty of Medicine & Health, University of Leeds, Leeds LS9 7TF, UK.

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https://academic.oup.com/hmg/article/27/3/529/4708237
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http://dx.doi.org/10.1093/hmg/ddx422DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886296PMC
February 2018

Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.

Authors:
Thi Tuyet Mai Nguyen Yoshiko Murakami Eamonn Sheridan Sophie Ehresmann Justine Rousseau Anik St-Denis Guoliang Chai Norbert F Ajeawung Laura Fairbrother Tyler Reimschisel Alexandra Bateman Elizabeth Berry-Kravis Fan Xia Jessica Tardif David A Parry Clare V Logan Christine Diggle Christopher P Bennett Louise Hattingh Jill A Rosenfeld Michael Scott Perry Michael J Parker Françoise Le Deist Maha S Zaki Erika Ignatius Pirjo Isohanni Tuula Lönnqvist Christopher J Carroll Colin A Johnson Joseph G Gleeson Taroh Kinoshita Philippe M Campeau

Am J Hum Genet 2017 Nov;101(5):856-865

Centre Hospitalier Universitaire Sainte Justine Research Center, University of Montreal, Montreal, QC H3T1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T 1J4, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.09.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673666PMC
November 2017

Improving case ascertainment of congenital anomalies: findings from a prospective birth cohort with detailed primary care record linkage.

Authors:
Chrissy Bishop Neil Small Dan Mason Peter Corry John Wright Roger C Parslow Alan H Bittles Eamonn Sheridan

BMJ Paediatr Open 2017 12;1(1):e000171. Epub 2017 Nov 12.

Institute of Biomedical and Clinical Sciences, University of Leeds, Leeds, UK.

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http://dx.doi.org/10.1136/bmjpo-2017-000171DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5862215PMC
November 2017

A tubulin alpha 8 mouse knockout model indicates a likely role in spermatogenesis but not in brain development.

Authors:
Christine P Diggle Isabel Martinez-Garay Zoltan Molnar Martin H Brinkworth Ed White Ewan Fowler Ruth Hughes Bruce E Hayward Ian M Carr Christopher M Watson Laura Crinnion Aruna Asipu Ben Woodman P Louise Coletta Alexander F Markham T Neil Dear David T Bonthron Michelle Peckham Ewan E Morrison Eamonn Sheridan

PLoS One 2017 7;12(4):e0174264. Epub 2017 Apr 7.

School of Medicine, St James's University Hospital, University of Leeds, Leeds, United Kingdom.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0174264PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5384676PMC
September 2017

A Chromosome 7 Pericentric Inversion Defined at Single-Nucleotide Resolution Using Diagnostic Whole Genome Sequencing in a Patient with Hand-Foot-Genital Syndrome.

Authors:
Christopher M Watson Laura A Crinnion Sally M Harrison Carolina Lascelles Agne Antanaviciute Ian M Carr David T Bonthron Eamonn Sheridan

PLoS One 2016 7;11(6):e0157075. Epub 2016 Jun 7.

Yorkshire Regional Genetics Service, St. James's University Hospital, Leeds, LS9 7TF, United Kingdom.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0157075PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4896502PMC
July 2017

Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain.

Authors:
Stella Zhang Saghira Malik Sharif Ya-Chun Chen Enza-Maria Valente Mushtaq Ahmed Eamonn Sheridan Christopher Bennett Geoffrey Woods

J Med Genet 2016 08 14;53(8):533-5. Epub 2016 Mar 14.

School of Clinical Medicine, University of Cambridge School of Clinical Medicine, Cambridge, UK Cambridge Institute for Medical Research, University of Cambridge, Cambridge Biomedical Campus, Wellcome Trust, Cambridge, UK.

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http://dx.doi.org/10.1136/jmedgenet-2015-103646DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4975812PMC
August 2016

Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesia.

Authors:
Christopher M Watson Laura A Crinnion Helen Murphy Melanie Newbould Sally M Harrison Carolina Lascelles Agne Antanaviciute Ian M Carr Eamonn Sheridan David T Bonthron Audrey Smith

J Med Genet 2016 Apr 5;53(4):264-9. Epub 2016 Jan 5.

Yorkshire Regional Genetics Service, St. James's University Hospital, Leeds, UK.

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http://dx.doi.org/10.1136/jmedgenet-2015-103620DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4819622PMC
April 2016

Health and population effects of rare gene knockouts in adult humans with related parents.

Authors:
Vagheesh M Narasimhan Karen A Hunt Dan Mason Christopher L Baker Konrad J Karczewski Michael R Barnes Anthony H Barnett Chris Bates Srikanth Bellary Nicholas A Bockett Kristina Giorda Christopher J Griffiths Harry Hemingway Zhilong Jia M Ann Kelly Hajrah A Khawaja Monkol Lek Shane McCarthy Rosie McEachan Anne O'Donnell-Luria Kenneth Paigen Constantinos A Parisinos Eamonn Sheridan Laura Southgate Louise Tee Mark Thomas Yali Xue Michael Schnall-Levin Petko M Petkov Chris Tyler-Smith Eamonn R Maher Richard C Trembath Daniel G MacArthur John Wright Richard Durbin David A van Heel

Science 2016 Apr 3;352(6284):474-7. Epub 2016 Mar 3.

Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London E1 2AT, UK.

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http://dx.doi.org/10.1126/science.aac8624DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4985238PMC
April 2016

Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.

Authors:
Periklis Makrythanasis Mitsuhiro Kato Maha S Zaki Hirotomo Saitsu Kazuyuki Nakamura Federico A Santoni Satoko Miyatake Mitsuko Nakashima Mahmoud Y Issa Michel Guipponi Audrey Letourneau Clare V Logan Nicola Roberts David A Parry Colin A Johnson Naomichi Matsumoto Hanan Hamamy Eamonn Sheridan Taroh Kinoshita Stylianos E Antonarakis Yoshiko Murakami

Am J Hum Genet 2016 Apr 17;98(4):615-26. Epub 2016 Mar 17.

Department of Immunoregulation, Research Institute for Microbial Diseases, and World Premier International Immunology Frontier Research Center, Osaka University, Osaka 565-0871, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.02.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4833197PMC
April 2016

Corrigendum: Mutations in the transcriptional repressor REST predispose to Wilms tumor.

Authors:
Shazia S Mahamdallie Sandra Hanks Kristen L Karlin Anna Zachariou Elizabeth R Perdeaux Elise Ruark Chad A Shaw Alexander Renwick Emma Ramsay Shawn Yost Anna Elliott Jillian Birch Michael Capra Juliet Gray Juliet Hale Judith Kingston Gill Levitt Thomas McLean Eamonn Sheridan Anthony Renwick Sheila Seal Charles Stiller Neil Sebire Thomas F Westbrook Nazneen Rahman

Nat Genet 2016 Apr;48(4):473

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http://dx.doi.org/10.1038/ng0329-473dDOI Listing
April 2016

Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy.

Authors:
Christine P Diggle Stacey J Sukoff Rizzo Michael Popiolek Reetta Hinttala Jan-Philip Schülke Manju A Kurian Ian M Carr Alexander F Markham David T Bonthron Christopher Watson Saghira Malik Sharif Veronica Reinhart Larry C James Michelle A Vanase-Frawley Erik Charych Melanie Allen John Harms Christopher J Schmidt Joanne Ng Karen Pysden Christine Strick Päivi Vieira Katariina Mankinen Hannaleena Kokkonen Matti Kallioinen Raija Sormunen Juha O Rinne Jarkko Johansson Kati Alakurtti Laura Huilaja Tiina Hurskainen Kaisa Tasanen Eija Anttila Tiago Reis Marques Oliver Howes Marius Politis Somayyeh Fahiminiya Khanh Q Nguyen Jacek Majewski Johanna Uusimaa Eamonn Sheridan Nicholas J Brandon

Am J Hum Genet 2016 Apr;98(4):735-43

Neuroscience Research Unit, Pfizer Research and Development, Cambridge, MA 02139, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.03.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4833436PMC
April 2016

HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome.

Authors:
Ronja Hollstein David A Parry Lisa Nalbach Clare V Logan Tim M Strom Verity L Hartill Ian M Carr Georg C Korenke Sandeep Uppal Mushtaq Ahmed Thomas Wieland Alexander F Markham Christopher P Bennett Gabriele Gillessen-Kaesbach Eamonn G Sheridan Frank J Kaiser David T Bonthron

J Med Genet 2015 Dec 30;52(12):797-803. Epub 2015 Sep 30.

Section of Genetics, School of Medicine, University of Leeds, Leeds, UK Yorkshire Regional Genetics Service, Leeds, UK.

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http://dx.doi.org/10.1136/jmedgenet-2015-103344DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4717446PMC
December 2015

Mutations in the transcriptional repressor REST predispose to Wilms tumor.

Authors:
Shazia S Mahamdallie Sandra Hanks Kristen L Karlin Anna Zachariou Elizabeth R Perdeaux Elise Ruark Chad A Shaw Alexander Renwick Emma Ramsay Shawn Yost Anna Elliott Jillian Birch Michael Capra Juliet Gray Juliet Hale Judith Kingston Gill Levitt Thomas McLean Eamonn Sheridan Anthony Renwick Sheila Seal Charles Stiller Neil Sebire Thomas F Westbrook Nazneen Rahman

Nat Genet 2015 Dec 9;47(12):1471-4. Epub 2015 Nov 9.

Division of Genetics and Epidemiology, Institute of Cancer Research, London, UK.

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http://dx.doi.org/10.1038/ng.3440DOI Listing
December 2015

Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain.

Authors:
Clare V Logan Judith Cossins Pedro M Rodríguez Cruz David A Parry Susan Maxwell Pilar Martínez-Martínez Joey Riepsaame Zakia A Abdelhamed Alice V R Lake Maria Moran Stephanie Robb Gabriel Chow Caroline Sewry Philip M Hopkins Eamonn Sheridan Sandeep Jayawant Jacqueline Palace Colin A Johnson David Beeson

Am J Hum Genet 2015 Dec 25;97(6):878-85. Epub 2015 Nov 25.

Neurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford OX3 9DS, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.10.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4678414PMC
December 2015

Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents.

Authors:
Sahra Bodo Chrystelle Colas Olivier Buhard Ada Collura Julie Tinat Noémie Lavoine Agathe Guilloux Alexandra Chalastanis Philippe Lafitte Florence Coulet Marie-Pierre Buisine Denisa Ilencikova Clara Ruiz-Ponte Miriam Kinzel Sophie Grandjouan Hilde Brems Sophie Lejeune Hélène Blanché Qing Wang Olivier Caron Odile Cabaret Magali Svrcek Dominique Vidaud Béatrice Parfait Alain Verloes Ulrich J Knappe Florent Soubrier Isabelle Mortemousque Alexander Leis Jessie Auclair-Perrossier Thierry Frébourg Jean-François Fléjou Natacha Entz-Werle Julie Leclerc David Malka Odile Cohen-Haguenauer Yael Goldberg Anne-Marie Gerdes Faten Fedhila Michèle Mathieu-Dramard Richard Hamelin Badre Wafaa Marion Gauthier-Villars Franck Bourdeaut Eamonn Sheridan Hans Vasen Laurence Brugières Katharina Wimmer Martine Muleris Alex Duval

Gastroenterology 2015 Oct 25;149(4):1017-29.e3. Epub 2015 Jun 25.

INSERM, UMR_S 938 Centre de Recherche Saint-Antoine, Equipe Instabilité des Microsatellites et Cancer, équipe labellisée par la Ligue Nationle contre le Cancer, Paris, France; UPMC Univ Paris, Paris, France. Electronic address:

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http://dx.doi.org/10.1053/j.gastro.2015.06.013DOI Listing
October 2015

The 9p21.3 risk of childhood acute lymphoblastic leukaemia is explained by a rare high-impact variant in CDKN2A.

Authors:
Jayaram Vijayakrishnan Marc Henrion Anthony V Moorman Bettina Fiege Rajiv Kumar Miguel Inacio da Silva Filho Amy Holroyd Rolf Koehler Hauke Thomsen Julie A Irving James M Allan Tracy Lightfoot Eve Roman Sally E Kinsey Eamonn Sheridan Pamela D Thompson Per Hoffmann Markus M Nöthen Thomas W Mühleisen Lewin Eisele Claus R Bartram Martin Schrappe Mel Greaves Kari Hemminki Christine J Harrison Martin Stanulla Richard S Houlston

Sci Rep 2015 Oct 14;5:15065. Epub 2015 Oct 14.

Division of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, Surrey, United Kingdom.

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http://dx.doi.org/10.1038/srep15065DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4604478PMC
October 2015

Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement.

Authors:
Mohammed E El-Asrag Panagiotis I Sergouniotis Martin McKibbin Vincent Plagnol Eamonn Sheridan Naushin Waseem Zakia Abdelhamed Declan McKeefry Kristof Van Schil James A Poulter Colin A Johnson Ian M Carr Bart P Leroy Elfride De Baere Chris F Inglehearn Andrew R Webster Carmel Toomes Manir Ali

Am J Hum Genet 2015 Jun 14;96(6):948-54. Epub 2015 May 14.

Section of Ophthalmology and Neuroscience, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, Leeds LS9 7TF, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.04.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4457961PMC
June 2015

Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.

Authors:
Christopher M Watson Mohammed El-Asrag David A Parry Joanne E Morgan Clare V Logan Ian M Carr Eamonn Sheridan Ruth Charlton Colin A Johnson Graham Taylor Carmel Toomes Martin McKibbin Chris F Inglehearn Manir Ali

PLoS One 2014 18;9(8):e104281. Epub 2014 Aug 18.

Section of Ophthalmology & Neuroscience, Leeds Institute of Biomedical & Clinical Sciences, University of Leeds, Leeds, United Kingdom.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0104281PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4136783PMC
May 2015

Diagnostic whole genome sequencing and split-read mapping for nucleotide resolution breakpoint identification in CNTNAP2 deficiency syndrome.

Authors:
Christopher M Watson Laura A Crinnion Antigoni Tzika Alison Mills Andrea Coates Maria Pendlebury Sarah Hewitt Sally M Harrison Catherine Daly Paul Roberts Ian M Carr Eamonn G Sheridan David T Bonthron

Am J Med Genet A 2014 Oct 16;164A(10):2649-55. Epub 2014 Jul 16.

Yorkshire Regional Genetics Service, St. James's University Hospital, Leeds, United Kingdom; School of Medicine, University of Leeds, St. James's University Hospital, Leeds, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.36679DOI Listing
October 2014

CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation.

Authors:
Rim Hjeij Alexandros Onoufriadis Christopher M Watson Christopher E Slagle Nikolai T Klena Gerard W Dougherty Małgorzata Kurkowiak Niki T Loges Christine P Diggle Nicholas F C Morante George C Gabriel Kristi L Lemke You Li Petra Pennekamp Tabea Menchen Franziska Konert June Kehlet Marthin Dorus A Mans Stef J F Letteboer Claudius Werner Thomas Burgoyne Cordula Westermann Andrew Rutman Ian M Carr Christopher O'Callaghan Eduardo Moya Eddie M K Chung Eamonn Sheridan Kim G Nielsen Ronald Roepman Kerstin Bartscherer Rebecca D Burdine Cecilia W Lo Heymut Omran Hannah M Mitchison

Am J Hum Genet 2014 Sep;95(3):257-74

Genetics and Genomic Medicine Programme, University College London (UCL) Institute of Child Health, London WC1N 1EH, UK.

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http://dx.doi.org/10.1016/j.ajhg.2014.08.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4157146PMC
September 2014

HEATR2 plays a conserved role in assembly of the ciliary motile apparatus.

Authors:
Christine P Diggle Daniel J Moore Girish Mali Petra zur Lage Aouatef Ait-Lounis Miriam Schmidts Amelia Shoemark Amaya Garcia Munoz Mihail R Halachev Philippe Gautier Patricia L Yeyati David T Bonthron Ian M Carr Bruce Hayward Alexander F Markham Jilly E Hope Alex von Kriegsheim Hannah M Mitchison Ian J Jackson Bénédicte Durand Walter Reith Eamonn Sheridan Andrew P Jarman Pleasantine Mill

PLoS Genet 2014 Sep 18;10(9):e1004577. Epub 2014 Sep 18.

MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine at The University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom.

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http://dx.doi.org/10.1371/journal.pgen.1004577DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4168999PMC
September 2014

De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.

Authors:
Ghayda Mirzaa David A Parry Andrew E Fry Kristin A Giamanco Jeremy Schwartzentruber Megan Vanstone Clare V Logan Nicola Roberts Colin A Johnson Shawn Singh Stanislav S Kholmanskikh Carissa Adams Rebecca D Hodge Robert F Hevner David T Bonthron Kees P J Braun Laurence Faivre Jean-Baptiste Rivière Judith St-Onge Karen W Gripp Grazia Ms Mancini Ki Pang Elizabeth Sweeney Hilde van Esch Nienke Verbeek Dagmar Wieczorek Michelle Steinraths Jacek Majewski Kym M Boycot Daniela T Pilz M Elizabeth Ross William B Dobyns Eamonn G Sheridan

Nat Genet 2014 May 6;46(5):510-515. Epub 2014 Apr 6.

Leeds Institute of Biomedical and Clinical Science, Wellcome Trust Brenner Building, St James's University Hospital, Leeds LS9 7TF, UK.

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http://dx.doi.org/10.1038/ng.2948DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4004933PMC
May 2014

Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface.

Authors:
Christopher M Watson Laura A Crinnion Joanne E Morgan Sally M Harrison Christine P Diggle Julian Adlard Helen A Lindsay Nick Camm Ruth Charlton Eamonn Sheridan David T Bonthron Graham R Taylor Ian M Carr

Hum Mutat 2014 Apr;35(4):434-41

Yorkshire Regional Genetics Service, St. James's University Hospital, Leeds, LS9 7TF, United Kingdom.

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http://dx.doi.org/10.1002/humu.22490DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4285299PMC
April 2014

A new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3-24.1.

Authors:
Musallam Al-Araimi Bishwanath Pal James A Poulter Maria M van Genderen Ian Carr Tomas Cudrnak Lawrence Brown Eamonn Sheridan Moin D Mohamed John Bradbury Manir Ali Chris F Inglehearn Carmel Toomes

Mol Vis 2013 1;19:2165-72. Epub 2013 Nov 1.

Section of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds, Leeds, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3816992PMC
March 2014

Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling.

Authors:
Clare V Logan György Szabadkai Jenny A Sharpe David A Parry Silvia Torelli Anne-Marie Childs Marjolein Kriek Rahul Phadke Colin A Johnson Nicola Y Roberts David T Bonthron Karen A Pysden Tamieka Whyte Iulia Munteanu A Reghan Foley Gabrielle Wheway Katarzyna Szymanska Subaashini Natarajan Zakia A Abdelhamed Joanne E Morgan Helen Roper Gijs W E Santen Erik H Niks W Ludo van der Pol Dick Lindhout Anna Raffaello Diego De Stefani Johan T den Dunnen Yu Sun Ieke Ginjaar Caroline A Sewry Matthew Hurles Rosario Rizzuto Michael R Duchen Francesco Muntoni Eamonn Sheridan

Nat Genet 2014 Feb 15;46(2):188-93. Epub 2013 Dec 15.

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http://dx.doi.org/10.1038/ng.2851DOI Listing
February 2014

Analysis of the Born in Bradford birth cohort--authors' reply.

Authors:
Eamonn Sheridan John Wright Peter Corry Sam Oddie Neil Small Roger C Parslow

Lancet 2014 Jan;383(9912):123

Leeds Institute of Genetics, Health and Therapeutics, University of Leeds, Leeds, UK.

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http://dx.doi.org/10.1016/S0140-6736(14)60020-9DOI Listing
January 2014

Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans.

Authors:
Ryan P Liegel Mark T Handley Adam Ronchetti Stephen Brown Lars Langemeyer Andrea Linford Bo Chang Deborah J Morris-Rosendahl Sarah Carpanini Renata Posmyk Verity Harthill Eamonn Sheridan Ghada M H Abdel-Salam Paulien A Terhal Francesca Faravelli Patrizia Accorsi Lucio Giordano Lorenzo Pinelli Britta Hartmann Allison D Ebert Francis A Barr Irene A Aligianis Duska J Sidjanin

Am J Hum Genet 2013 Dec 14;93(6):1001-14. Epub 2013 Nov 14.

Department of Cell Biology, Neurobiology, and Anatomy, Medical College of Wisconsin, Milwaukee, WI 53226, USA.

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http://dx.doi.org/10.1016/j.ajhg.2013.10.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3852926PMC
December 2013

SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid.

Authors:
David A Parry Clare V Logan Alexander P A Stegmann Zakia A Abdelhamed Alistair Calder Shabana Khan David T Bonthron Virginia Clowes Eamonn Sheridan Neeti Ghali Albert E Chudley Angus Dobbie Constance T R M Stumpel Colin A Johnson

Am J Hum Genet 2013 Dec 27;93(6):1135-42. Epub 2013 Nov 27.

Leeds Institute of Molecular Medicine, University of Leeds, Leeds LS9 7TF, UK.

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https://linkinghub.elsevier.com/retrieve/pii/S00029297130051
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http://dx.doi.org/10.1016/j.ajhg.2013.10.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3853132PMC
December 2013

Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism.

Authors:
James A Poulter Musallam Al-Araimi Ivan Conte Maria M van Genderen Eamonn Sheridan Ian M Carr David A Parry Mike Shires Sabrina Carrella John Bradbury Kamron Khan Phillis Lakeman Panagiotis I Sergouniotis Andrew R Webster Anthony T Moore Bishwanath Pal Moin D Mohamed Anandula Venkataramana Vedam Ramprasad Rohit Shetty Murugan Saktivel Govindasamy Kumaramanickavel Alex Tan David A Mackey Alex W Hewitt Sandro Banfi Manir Ali Chris F Inglehearn Carmel Toomes

Am J Hum Genet 2013 Dec 27;93(6):1143-50. Epub 2013 Nov 27.

Leeds Institute of Molecular Medicine, University of Leeds, Leeds, West Yorkshire LS9 7TF, UK.

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http://dx.doi.org/10.1016/j.ajhg.2013.11.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3853409PMC
December 2013

Variation at 10p12.2 and 10p14 influences risk of childhood B-cell acute lymphoblastic leukemia and phenotype.

Authors:
Gabriele Migliorini Bettina Fiege Fay J Hosking Yussanne Ma Rajiv Kumar Amy L Sherborne Miguel Inacio da Silva Filho Jayaram Vijayakrishnan Rolf Koehler Hauke Thomsen Julie A Irving James M Allan Tracy Lightfoot Eve Roman Sally E Kinsey Eamonn Sheridan Pamela Thompson Per Hoffmann Markus M Nöthen Thomas W Mühleisen Lewin Eisele Martin Zimmermann Claus R Bartram Martin Schrappe Mel Greaves Martin Stanulla Kari Hemminki Richard S Houlston

Blood 2013 Nov 30;122(19):3298-307. Epub 2013 Aug 30.

Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, Surrey, United Kingdom;

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http://dx.doi.org/10.1182/blood-2013-03-491316DOI Listing
November 2013

Risk factors for congenital anomaly in a multiethnic birth cohort: an analysis of the Born in Bradford study.

Authors:
Eamonn Sheridan John Wright Neil Small Peter C Corry Sam Oddie Catherine Whibley Emily S Petherick Teena Malik Nicole Pawson Patricia A McKinney Roger C Parslow

Lancet 2013 Oct 4;382(9901):1350-9. Epub 2013 Jul 4.

Bradford Institute for Health Research, Bradford Royal Infirmary, Bradford, UK; Department of Genetics, Wellcome Trust Brenner Building, St James's University Hospital, Leeds, UK. Electronic address:

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http://dx.doi.org/10.1016/S0140-6736(13)61132-0DOI Listing
October 2013

ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.

Authors:
Maimoona A Zariwala Heon Yung Gee Małgorzata Kurkowiak Dalal A Al-Mutairi Margaret W Leigh Toby W Hurd Rim Hjeij Sharon D Dell Moumita Chaki Gerard W Dougherty Mohamed Adan Philip C Spear Julian Esteve-Rudd Niki T Loges Margaret Rosenfeld Katrina A Diaz Heike Olbrich Whitney E Wolf Eamonn Sheridan Trevor F C Batten Jan Halbritter Jonathan D Porath Stefan Kohl Svjetlana Lovric Daw-Yang Hwang Jessica E Pittman Kimberlie A Burns Thomas W Ferkol Scott D Sagel Kenneth N Olivier Lucy C Morgan Claudius Werner Johanna Raidt Petra Pennekamp Zhaoxia Sun Weibin Zhou Rannar Airik Sivakumar Natarajan Susan J Allen Israel Amirav Dagmar Wieczorek Kerstin Landwehr Kim Nielsen Nicolaus Schwerk Jadranka Sertic Gabriele Köhler Joseph Washburn Shawn Levy Shuling Fan Cordula Koerner-Rettberg Serge Amselem David S Williams Brian J Mitchell Iain A Drummond Edgar A Otto Heymut Omran Michael R Knowles Friedhelm Hildebrandt

Am J Hum Genet 2013 Aug 25;93(2):336-45. Epub 2013 Jul 25.

Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.

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http://dx.doi.org/10.1016/j.ajhg.2013.06.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3738827PMC
August 2013

Simple detection of germline microsatellite instability for diagnosis of constitutional mismatch repair cancer syndrome.

Authors:
Danielle Ingham Christine P Diggle Ian Berry Claire A Bristow Bruce E Hayward Nazneen Rahman Alexander F Markham Eamonn G Sheridan David T Bonthron Ian M Carr

Hum Mutat 2013 Jun 2;34(6):847-52. Epub 2013 Apr 2.

School of Medicine, University of Leeds, Leeds, United Kingdom.

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http://doi.wiley.com/10.1002/humu.22311
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http://dx.doi.org/10.1002/humu.22311DOI Listing
June 2013

Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis.

Authors:
Christine P Diggle David A Parry Clare V Logan Paul Laissue Carolina Rivera Carlos Martín Restrepo Dora J Fonseca Joanne E Morgan Yannick Allanore Michaela Fontenay Julien Wipff Mathilde Varret Laure Gibault Nadezhda Dalantaeva Márta Korbonits Bowen Zhou Gang Yuan Ghita Harifi Kivanc Cefle Sukru Palanduz Hadim Akoglu Petra J Zwijnenburg Klaske D Lichtenbelt Bérengère Aubry-Rozier Andrea Superti-Furga Bruno Dallapiccola Maria Accadia Francesco Brancati Eamonn G Sheridan Graham R Taylor Ian M Carr Colin A Johnson Alexander F Markham David T Bonthron

Hum Mutat 2012 Aug 29;33(8):1175-81. Epub 2012 May 29.

School of Medicine, University of Leeds, Leeds, United Kingdom.

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http://dx.doi.org/10.1002/humu.22111DOI Listing
August 2012

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan.

Authors:
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

Nat Genet 2012 May;44(5):581-5

Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/ng.2253DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3378661PMC
May 2012

CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms.

Authors:
Jennifer R Panizzi Anita Becker-Heck Victoria H Castleman Dalal A Al-Mutairi Yan Liu Niki T Loges Narendra Pathak Christina Austin-Tse Eamonn Sheridan Miriam Schmidts Heike Olbrich Claudius Werner Karsten Häffner Nathan Hellman Rahul Chodhari Amar Gupta Albrecht Kramer-Zucker Felix Olale Rebecca D Burdine Alexander F Schier Christopher O'Callaghan Eddie M K Chung Richard Reinhardt Hannah M Mitchison Stephen M King Heymut Omran Iain A Drummond

Nat Genet 2012 May 13;44(6):714-9. Epub 2012 May 13.

Nephrology Division, Massachusetts General Hospital, Charlestown, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng.2277DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3371652PMC
May 2012

Identification of autosomal recessive disease loci using out-bred nuclear families.

Authors:
Ian M Carr Christine P Diggle Nader Touqan Rashida Anwar Eamonn G Sheridan David T Bonthron Colin A Johnson Manir Ali Alexander F Markham

Hum Mutat 2012 Feb 28;33(2):338-42. Epub 2011 Nov 28.

School of Medicine, University of Leeds, Leeds, United Kingdom.

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http://dx.doi.org/10.1002/humu.21645DOI Listing
February 2012

Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects.

Authors:
Kamron Khan Clare V Logan Martin McKibbin Eamonn Sheridan Nursel H Elçioglu Ozlem Yenice David A Parry Narcis Fernandez-Fuentes Zakia I A Abdelhamed Ahmed Al-Maskari James A Poulter Moin D Mohamed Ian M Carr Joanne E Morgan Hussain Jafri Yasmin Raashid Graham R Taylor Colin A Johnson Chris F Inglehearn Carmel Toomes Manir Ali

Hum Mol Genet 2012 Feb 7;21(4):776-83. Epub 2011 Nov 7.

Leeds Institute of Molecular Medicine, University of Leeds, Leeds LS9 7TF, UK.

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http://dx.doi.org/10.1093/hmg/ddr509DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3263993PMC
February 2012

DominantMapper: rule-based analysis of SNP data for rapid mapping of dominant diseases in related nuclear families.

Authors:
Ian M Carr Colin A Johnson Alex F Markham Carmel Toomes David T Bonthron Eamonn G Sheridan

Hum Mutat 2011 Dec 19;32(12):1359-66. Epub 2011 Sep 19.

Leeds Institute of Molecular Medicine, University of Leeds, UK.

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http://dx.doi.org/10.1002/humu.21597DOI Listing
December 2011

Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD).

Authors:
Clare V Logan Barbara Lucke Caroline Pottinger Zakia A Abdelhamed David A Parry Katarzyna Szymanska Christine P Diggle Anne van Riesen Joanne E Morgan Grace Markham Ian Ellis Adnan Y Manzur Alexander F Markham Mike Shires Tim Helliwell Mariacristina Scoto Christoph Hübner David T Bonthron Graham R Taylor Eamonn Sheridan Francesco Muntoni Ian M Carr Markus Schuelke Colin A Johnson

Nat Genet 2011 Nov 20;43(12):1189-92. Epub 2011 Nov 20.

Leeds Institute of Molecular Medicine, The University of Leeds, UK.

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http://www.nature.com/articles/ng.995
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http://dx.doi.org/10.1038/ng.995DOI Listing
November 2011

Illuminator, a desktop program for mutation detection using short-read clonal sequencing.

Authors:
Ian M Carr Joanne E Morgan Christine P Diggle Eamonn Sheridan Alexander F Markham Clare V Logan Chris F Inglehearn Graham R Taylor David T Bonthron

Genomics 2011 Oct 19;98(4):302-9. Epub 2011 May 19.

Leeds Institute of Molecular Medicine, University of Leeds, UK.

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http://dx.doi.org/10.1016/j.ygeno.2011.05.004DOI Listing
October 2011

Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte.

Authors:
David A Parry Clare V Logan Bruce E Hayward Michael Shires Hanène Landolsi Christine Diggle Ian Carr Cécile Rittore Isabelle Touitou Laurent Philibert Rosemary A Fisher Masoumeh Fallahian John D Huntriss Helen M Picton Saghira Malik Graham R Taylor Colin A Johnson David T Bonthron Eamonn G Sheridan

Am J Hum Genet 2011 Sep 1;89(3):451-8. Epub 2011 Sep 1.

Section of Genetics, Leeds Institute of Molecular Medicine, St. James's University Hospital, Wellcome Trust Brenner Building, UK.

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http://dx.doi.org/10.1016/j.ajhg.2011.08.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3169823PMC
September 2011

Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma.

Authors:
Kamron Khan Adam Rudkin David A Parry Kathryn P Burdon Martin McKibbin Clare V Logan Zakia I A Abdelhamed James S Muecke Narcis Fernandez-Fuentes Kate J Laurie Mike Shires Rhys Fogarty Ian M Carr James A Poulter Joanne E Morgan Moin D Mohamed Hussain Jafri Yasmin Raashid Ngy Meng Horm Piseth Carmel Toomes Robert J Casson Graham R Taylor Michael Hammerton Eamonn Sheridan Colin A Johnson Chris F Inglehearn Jamie E Craig Manir Ali

Am J Hum Genet 2011 Sep;89(3):464-73

Leeds Institute of Molecular Medicine, UK.

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http://dx.doi.org/10.1016/j.ajhg.2011.08.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3169830PMC
September 2011

Genetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacity.

Authors:
Kamron Khan Ahmed Al-Maskari Martin McKibbin Ian M Carr Adam Booth Moin Mohamed Salina Siddiqui James A Poulter David A Parry Clara V Logan Anwar Hashmi Tehseen Sahi Hussain Jafri Yasmin Raashid Colin A Johnson Alex F Markham Carmel Toomes Aine Rice Eamonn Sheridan Chris F Inglehearn Manir Ali

Invest Ophthalmol Vis Sci 2011 Jun 16;52(7):4294-9. Epub 2011 Jun 16.

Leeds Institute of Molecular Medicine, Leeds, United Kingdom.

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http://dx.doi.org/10.1167/iovs.10-6776DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3175982PMC
June 2011

The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis.

Authors:
Mehmet Bakircioglu Ofélia P Carvalho Maryam Khurshid James J Cox Beyhan Tuysuz Tanyeri Barak Saliha Yilmaz Okay Caglayan Alp Dincer Adeline K Nicholas Oliver Quarrell Kelly Springell Gulshan Karbani Saghira Malik Caroline Gannon Eamonn Sheridan Moira Crosier Steve N Lisgo Susan Lindsay Kaya Bilguvar Fanni Gergely Murat Gunel C Geoffrey Woods

Am J Hum Genet 2011 May 28;88(5):523-35. Epub 2011 Apr 28.

Department of Neurosurgery, Center for Human Genetics and Genomics, and Program on Neurogenetics, Yale School of Medicine, New Haven, CT 06510, USA.

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http://dx.doi.org/10.1016/j.ajhg.2011.03.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3146716PMC
May 2011

Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome.

Authors:
Dorothy A Thompson Sally Feather Horia C Stanescu Bernard Freudenthal Anselm A Zdebik Richard Warth Milos Ognjanovic Sally A Hulton Evangeline Wassmer William van't Hoff Isabelle Russell-Eggitt Angus Dobbie Eamonn Sheridan Robert Kleta Detlef Bockenhauer

J Physiol 2011 Apr 7;589(Pt 7):1681-9. Epub 2011 Feb 7.

The Tony Kriss Visual Electrophysiology Unit, Clinical and Academic Department of Ophthalmology, Great Ormond Street Hospital/University College London, London WC1 N3JH, UK.

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http://dx.doi.org/10.1113/jphysiol.2010.198531DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3099023PMC
April 2011

GeneScreen: a program for high-throughput mutation detection in DNA sequence electropherograms.

Authors:
Ian M Carr Nick Camm Graham R Taylor Ruth Charlton Sian Ellard Eamonn G Sheridan Alexander F Markham David T Bonthron

J Med Genet 2011 Feb 30;48(2):123-30. Epub 2010 Oct 30.

Division of Molecular & Translational Medicine, Leeds Institute for Molecular Medicine, University of Leeds, St James's University Hospital, Leeds, UK.

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http://www.tara.tcd.ie/bitstream/handle/2262/53909/PEER_stag
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http://jmg.bmj.com/cgi/doi/10.1136/jmg.2010.082081
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http://dx.doi.org/10.1136/jmg.2010.082081DOI Listing
February 2011

MHC variation and risk of childhood B-cell precursor acute lymphoblastic leukemia.

Authors:
Fay J Hosking Stephen Leslie Alexander Dilthey Loukas Moutsianas Yufei Wang Sara E Dobbins Elli Papaemmanuil Eamonn Sheridan Sally E Kinsey Tracy Lightfoot Eve Roman Julie A E Irving James M Allan Malcolm Taylor Mel Greaves Gilean McVean Richard S Houlston

Blood 2011 Feb 8;117(5):1633-40. Epub 2010 Nov 8.

Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, United Kingdom.

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http://dx.doi.org/10.1182/blood-2010-08-301598DOI Listing
February 2011

Variation in CDKN2A at 9p21.3 influences childhood acute lymphoblastic leukemia risk.

Authors:
Amy L Sherborne Fay J Hosking Rashmi B Prasad Rajiv Kumar Rolf Koehler Jayaram Vijayakrishnan Elli Papaemmanuil Claus R Bartram Martin Stanulla Martin Schrappe Andreas Gast Sara E Dobbins Yussanne Ma Eamonn Sheridan Malcolm Taylor Sally E Kinsey Tracey Lightfoot Eve Roman Julie A E Irving James M Allan Anthony V Moorman Christine J Harrison Ian P Tomlinson Sue Richards Martin Zimmermann Csaba Szalai Agnes F Semsei Daniel J Erdelyi Maja Krajinovic Daniel Sinnett Jasmine Healy Anna Gonzalez Neira Norihiko Kawamata Seishi Ogawa H Phillip Koeffler Kari Hemminki Mel Greaves Richard S Houlston

Nat Genet 2010 Jun 9;42(6):492-4. Epub 2010 May 9.

Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK.

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http://dx.doi.org/10.1038/ng.585DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3434228PMC
June 2010

Genetic diagnosis of familial breast cancer using clonal sequencing.

Authors:
Joanne E Morgan Ian M Carr Eamonn Sheridan Carol E Chu Bruce Hayward Nick Camm Helen A Lindsay Chris J Mattocks Alexander F Markham David T Bonthron Graham R Taylor

Hum Mutat 2010 Apr;31(4):484-91

University of Leeds Institute of Molecular Medicine, Wellcome Trust Brenner Building, St. James's University Hospital, Beckett Street, Leeds, United Kingdom.

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http://dx.doi.org/10.1002/humu.21216DOI Listing
April 2010

Verification of the susceptibility loci on 7p12.2, 10q21.2, and 14q11.2 in precursor B-cell acute lymphoblastic leukemia of childhood.

Authors:
Rashmi B Prasad Fay J Hosking Jayaram Vijayakrishnan Elli Papaemmanuil Rolf Koehler Mel Greaves Eamonn Sheridan Andreas Gast Sally E Kinsey Tracy Lightfoot Eve Roman Malcolm Taylor Kathy Pritchard-Jones Martin Stanulla Martin Schrappe Claus R Bartram Richard S Houlston Rajiv Kumar Kari Hemminki

Blood 2010 Mar 30;115(9):1765-7. Epub 2009 Dec 30.

Division of Molecular Genetic Epidemiology, German Cancer Research Center, Heidelberg, Germany.

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http://www.bloodjournal.org/cgi/doi/10.1182/blood-2009-09-24
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http://dx.doi.org/10.1182/blood-2009-09-241513DOI Listing
March 2010

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.

Authors:
Wilhelmina G Leen Joerg Klepper Marcel M Verbeek Maike Leferink Tom Hofste Baziel G van Engelen Ron A Wevers Todd Arthur Nadia Bahi-Buisson Diana Ballhausen Jolita Bekhof Patrick van Bogaert Inês Carrilho Brigitte Chabrol Michael P Champion James Coldwell Peter Clayton Elizabeth Donner Athanasios Evangeliou Friedrich Ebinger Kevin Farrell Rob J Forsyth Christian G E L de Goede Stephanie Gross Stephanie Grunewald Hans Holthausen Sandeep Jayawant Katherine Lachlan Vincent Laugel Kathy Leppig Ming J Lim Grazia Mancini Adela Della Marina Loreto Martorell Joe McMenamin Marije E C Meuwissen Helen Mundy Nils O Nilsson Axel Panzer Bwee T Poll-The Christian Rauscher Christophe M R Rouselle Inger Sandvig Thomas Scheffner Eamonn Sheridan Neil Simpson Parol Sykora Richard Tomlinson John Trounce David Webb Bernhard Weschke Hans Scheffer Michél A Willemsen

Brain 2010 Mar 2;133(Pt 3):655-70. Epub 2010 Feb 2.

Department of Neurology, Radboud University Nijmegen Medical Centre, 935 Neurology, PO BOX 9101, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1093/brain/awp336DOI Listing
March 2010

Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54.

Authors:
Peter Green Matthew Wiseman Yanick J Crow Henry Houlden Shelley Riphagen Jean-Pierre Lin F Lucy Raymond Anne-Marie Childs Eamonn Sheridan Sian Edwards Dragana J Josifova

Am J Hum Genet 2010 Mar 4;86(3):485-9. Epub 2010 Mar 4.

Department of Medical and Molecular Genetics, Kings College, London, SE1 9RT, UK.

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http://dx.doi.org/10.1016/j.ajhg.2010.02.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2833371PMC
March 2010

Shadow autozygosity mapping by linkage exclusion (SAMPLE): a simple strategy to identify the genetic basis of lethal autosomal recessive disorders.

Authors:
Ian M Carr Katarzyna Szymanska Eamonn Sheridan Alexander F Markham David T Bonthron Colin A Johnson

Hum Mutat 2009 Dec;30(12):1642-9

Division of Molecular & Translational Medicine, Leeds Institute of Molecular Medicine, University of Leeds, Leeds, United Kingdom.

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http://dx.doi.org/10.1002/humu.21105DOI Listing
December 2009

T (brachyury) gene duplication confers major susceptibility to familial chordoma.

Authors:
Xiaohong R Yang David Ng David A Alcorta Norbert J Liebsch Eamonn Sheridan Sufeng Li Alisa M Goldstein Dilys M Parry Michael J Kelley

Nat Genet 2009 Nov 4;41(11):1176-8. Epub 2009 Oct 4.

Division of Cancer Epidemiology & Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA.

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http://dx.doi.org/10.1038/ng.454DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2901855PMC
November 2009

Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia.

Authors:
Mohammad R Abdollahi Ewan Morrison Tamara Sirey Zoltan Molnar Bruce E Hayward Ian M Carr Kelly Springell C Geoff Woods Mushtaq Ahmed Louise Hattingh Peter Corry Daniela T Pilz Neil Stoodley Yanick Crow Graham R Taylor David T Bonthron Eamonn Sheridan

Am J Hum Genet 2009 Nov 5;85(5):737-44. Epub 2009 Nov 5.

Section of Genetics (Leeds Institute of Molecular Medicine [LIMM]), Wellcome Trust Brenner Building, St James's University Hospital, Leeds, LS9 7TF, UK.

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http://dx.doi.org/10.1016/j.ajhg.2009.10.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2775839PMC
November 2009

Familial exudative vitreoretinopathy and DiGeorge syndrome: a new locus for familial exudative vitreoretinopathy on chromosome 22q11.2?

Authors:
David F Gilmour Louise M Downey Eamonn Sheridan Vernon Long John Bradbury Chris F Inglehearn Carmel Toomes

Ophthalmology 2009 Aug 5;116(8):1522-4. Epub 2009 Jun 5.

Section of Ophthalmology and Neuroscience, Leeds Institute of Molecular Medicine, University of Leeds, Leeds, UK.

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http://dx.doi.org/10.1016/j.ophtha.2009.02.032DOI Listing
August 2009

Replication of the recessive STBMS1 locus but with dominant inheritance.

Authors:
Aine Rice Jérémie Nsengimana Ian G Simmons Carmel Toomes Janice Hoole Colin E Willoughby Frances Cassidy Grange A Williams Nick D George Eamonn Sheridan Terri L Young Tim I Hunter Brendan T Barrett David B Elliott D Tim Bishop Chris F Inglehearn

Invest Ophthalmol Vis Sci 2009 Jul 14;50(7):3210-7. Epub 2009 Feb 14.

Section of Ophthalmology and Neuroscience, Leeds Institute of Molecular Medicine, University of Leeds, Leeds, United Kingdom.

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http://dx.doi.org/10.1167/iovs.07-1631DOI Listing
July 2009

IBDfinder and SNPsetter: tools for pedigree-independent identification of autozygous regions in individuals with recessive inherited disease.

Authors:
Ian M Carr Eamonn Sheridan Bruce E Hayward Alexander F Markham David T Bonthron

Hum Mutat 2009 Jun;30(6):960-7

Centre for Autozygosity Mapping and Section of Genetics, Leeds Institute of Molecular Medicine, University of Leeds, Leeds, UK.

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http://dx.doi.org/10.1002/humu.20974DOI Listing
June 2009

Macular dystrophy associated with the Arg172Trp substitution in peripherin/RDS: genotype-phenotype correlation.

Authors:
Seema Anand Eamonn Sheridan Frances Cassidy Chris Inglehearn Grange Williams Kelly Springell Victoria Allgar Thu-Lan Kelly Martin McKibbin

Retina 2009 May;29(5):682-8

Department of Ophthalmology, St James's University Hospital, Leeds, United Kingdom.

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http://dx.doi.org/10.1097/IAE.0b013e318198dbedDOI Listing
May 2009

Genetic and epigenetic analysis of recurrent hydatidiform mole.

Authors:
Bruce E Hayward Michel De Vos Nargese Talati M Reza Abdollahi Graham R Taylor Esther Meyer Denise Williams Eamonn R Maher Faridon Setna Kausar Nazir Shahnaz Hussaini Hussain Jafri Yasmin Rashid Eamonn Sheridan David T Bonthron

Hum Mutat 2009 May;30(5):E629-39

Leeds Institute of Molecular Medicine, University of Leeds, UK.

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http://dx.doi.org/10.1002/humu.20993DOI Listing
May 2009

Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations.

Authors:
Detlef Bockenhauer Sally Feather Horia C Stanescu Sascha Bandulik Anselm A Zdebik Markus Reichold Jonathan Tobin Evelyn Lieberer Christina Sterner Guida Landoure Ruchi Arora Tony Sirimanna Dorothy Thompson J Helen Cross William van't Hoff Omar Al Masri Kjell Tullus Stella Yeung Yair Anikster Enriko Klootwijk Mike Hubank Michael J Dillon Dirk Heitzmann Mauricio Arcos-Burgos Mark A Knepper Angus Dobbie William A Gahl Richard Warth Eamonn Sheridan Robert Kleta

N Engl J Med 2009 May;360(19):1960-70

Great Ormond Street Hospital-University College London, London, United Kingdom.

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http://dx.doi.org/10.1056/NEJMoa0810276DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3398803PMC
May 2009

Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination.

Authors:
Sophie Péron Ayse Metin Pauline Gardès Marie-Alexandra Alyanakian Eamonn Sheridan Christian Peter Kratz Alain Fischer Anne Durandy

J Exp Med 2008 Oct 29;205(11):2465-72. Epub 2008 Sep 29.

Institut National de Santé et de Recherche Médicale, U768, 75015 Paris, France.

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http://dx.doi.org/10.1084/jem.20080789DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2571921PMC
October 2008

Variable expression of neurological phenotype in autosomal recessive oculodentodigital dysplasia of two sibs and review of the literature.

Authors:
Shelagh K Joss Sam Ghazawy Susan Tomkins Mushtaq Ahmed John Bradbury Eamonn Sheridan

Eur J Pediatr 2008 Mar 3;167(3):341-5. Epub 2007 May 3.

Yorkshire Regional Genetics Service, St James University Hospital, Ashley Wing, Beckett Street, Leeds LS9 7TF, UK.

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http://dx.doi.org/10.1007/s00431-007-0468-1DOI Listing
March 2008

Extensive gene conversion at the PMS2 DNA mismatch repair locus.

Authors:
Bruce E Hayward Michel De Vos Elizabeth M A Valleley Ruth S Charlton Graham R Taylor Eamonn Sheridan David T Bonthron

Hum Mutat 2007 May;28(5):424-30

Leeds Institute of Molecular Medicine, University of Leeds and Yorkshire Regional Genetics Service, St James's University Hospital, Leeds, United Kingdom.

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http://dx.doi.org/10.1002/humu.20457DOI Listing
May 2007

X-linked retinoschisis in a female with a heterozygous RS1 missense mutation.

Authors:
Manuel Saldana Jenny Thompson Elizabeth Monk Dorothy Trump Vernon Long Eamonn Sheridan

Am J Med Genet A 2007 Mar;143A(6):608-9

Department of Ophthalmology, Leeds General Infirmary, Leeds, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.31568DOI Listing
March 2007

ABCA12 is the major harlequin ichthyosis gene.

Authors:
Anna C Thomas Tom Cullup Elizabeth E Norgett Tara Hill Stephanie Barton Beverly A Dale Eli Sprecher Eamonn Sheridan Aileen E Taylor Robert S Wilroy Celia DeLozier Nigel Burrows Helen Goodyear Philip Fleckman Karen G Stephens Lakshmi Mehta Rosemarie M Watson Robert Graham Roni Wolf Anne Slavotinek Madelena Martin David Bourn Charles A Mein Edel A O'Toole David P Kelsell

J Invest Dermatol 2006 Nov 10;126(11):2408-13. Epub 2006 Aug 10.

Centre for Cutaneous Research, Institute of Cell and Molecular Science, Queen Mary's School of Medicine and Dentistry, Queen Mary, University of London, London, UK.

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http://dx.doi.org/10.1038/sj.jid.5700455DOI Listing
November 2006

PMS2 mutations in childhood cancer.

Authors:
Michel De Vos Bruce E Hayward Ruth Charlton Graham R Taylor Adam W Glaser Susan Picton Trevor R Cole Eamonn R Maher Carole M E McKeown Jill R Mann John R Yates Diana Baralle Julia Rankin David T Bonthron Eamonn Sheridan

J Natl Cancer Inst 2006 Mar;98(5):358-61

University of Leeds, Yorkshire Regional Genetics Service, United Kingdom.

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http://dx.doi.org/10.1093/jnci/djj073DOI Listing
March 2006

Corroboration of a familial chordoma locus on chromosome 7q and evidence of genetic heterogeneity using single nucleotide polymorphisms (SNPs).

Authors:
Xiaohong ' Rose ' Yang Michael Beerman Andrew W Bergen Dilys M Parry Eamonn Sheridan Norbert J Liebsch Michael J Kelley Stephen Chanock Alisa M Goldstein

Int J Cancer 2005 Sep;116(3):487-91

Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, MD, USA.

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http://dx.doi.org/10.1002/ijc.21006DOI Listing
September 2005

Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome.

Authors:
Michel De Vos Bruce E Hayward Susan Picton Eamonn Sheridan David T Bonthron

Am J Hum Genet 2004 May 7;74(5):954-64. Epub 2004 Apr 7.

Molecular Medicine Unit, University of Leeds, Leeds LS9 7TF, United Kingdom.

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http://dx.doi.org/10.1086/420796DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1181988PMC
May 2004

The outcome of endometrial carcinoma surveillance by ultrasound scan in women at risk of hereditary nonpolyposis colorectal carcinoma and familial colorectal carcinoma.

Authors:
Nick J Wood Sean R Duffy Eamonn Sheridan

Cancer 2003 Oct;98(8):1772-3; author reply 1773-4

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http://doi.wiley.com/10.1002/cncr.11704
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October 2003

Endometrial abnormalities in three sisters from a family with hereditary non-polyposis colorectal cancer syndrome.

Authors:
Niki P Baxter Sean R G Duffy Eamonn Sheridan

BJOG 2002 Sep;109(9):1076-8

University Department of Obstetrics and Gynaecology, St James's University Hospital, Leeds, UK.

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http://dx.doi.org/10.1111/j.1471-0528.2002.01123.xDOI Listing
September 2002

A global disorder of imprinting in the human female germ line.

Authors:
Hannah Judson Bruce E Hayward Eamonn Sheridan David T Bonthron

Nature 2002 Apr;416(6880):539-42

University of Leeds, Molecular Medicine Unit, St. James's University Hospital, UK.

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http://www.nature.com/articles/416539a
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April 2002