Search Results - Eamonn Sheridan

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  1. 1
    Use of zebrafish models to investigate rare human disease

    Use of zebrafish models to investigate rare human disease by Kathryn Isabel Adamson, Eamonn Sheridan, Andrew J. Grierson

    Published 2018
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  2. 2
    Novel PMS2 Pseudogenes Can Conceal Recessive Mutations Causing a Distinctive Childhood Cancer Syndrome

    Novel PMS2 Pseudogenes Can Conceal Recessive Mutations Causing a Distinctive Childhood Cancer Syndrome by Michel De Vos, Bruce E. Hayward, Susan Picton, Eamonn Sheridan, David T. Bonthron

    Published 2004
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  3. 3
    Videoconferencing to deliver genetics services: a systematic review of telegenetics in light of the COVID-19 pandemic

    Videoconferencing to deliver genetics services: a systematic review of telegenetics in light of the COVID-19 pandemic by Elizabeth Gaspar Brown, Isabella Watts, Emily Beales, Ashwini Maudhoo, Judith Hayward, Eamonn Sheridan, Imran Rafi

    Published 2021
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  4. 4
    Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination

    Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination by Sophie Péron, Ayşe Metìn, Pauline Gardës, Marie‐Alexandra Alyanakian, Eamonn Sheridan, Christian P. Kratz, Alain Fischer, Anne Durandy

    Published 2008
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  5. 5
    Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain

    Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain by Stella Zhang, Saghira Malik Sharif, Ya‐Chun Chen, Enza Maria Valente, Mushtaq Ahmed, Eamonn Sheridan, Christopher Bennett, Geoffrey Woods

    Published 2016
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  6. 6
    Simple Detection of Germline Microsatellite Instability for Diagnosis of Constitutional Mismatch Repair Cancer Syndrome

    Simple Detection of Germline Microsatellite Instability for Diagnosis of Constitutional Mismatch Repair Cancer Syndrome by Danielle Ingham, Christine P. Diggle, Ian Berry, Claire Bristow, Bruce E. Hayward, Nazneen Rahman, Alexander F. Markham, Eamonn Sheridan, David T. Bonthron, Ian Carr

    Published 2013
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  7. 7
    T (brachyury) gene duplication confers major susceptibility to familial chordoma

    T (brachyury) gene duplication confers major susceptibility to familial chordoma by Xiaohong R. Yang, David Ng, David A. Alcorta, Norbert J. Liebsch, Eamonn Sheridan, Sufeng Li, Alisa M. Goldstein, Dilys M. Parry, Michael J. Kelley

    Published 2009
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  8. 8
    Genetic diagnosis of familial breast cancer using clonal sequencing

    Genetic diagnosis of familial breast cancer using clonal sequencing by Joanne Morgan, Ian Carr, Eamonn Sheridan, Carol Chu, Bruce E. Hayward, Nick Camm, Helen Lindsay, Chris Mattocks, Alexander F. Markham, David T. Bonthron, Graham R. Taylor

    Published 2010
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  9. 9
    Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy with Deafness, Is Caused by Mutations in C20orf54

    Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy with Deafness, Is Caused by Mutations in C20orf54 by 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 Josifova

    Published 2010
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  10. 10
    Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome

    Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome by Dorothy Thompson, Sally Feather, Horia Stanescu, Bernard Freudenthal, Anselm A. Zdebik, Richard Warth, Miloš Ognjanović, Sally A. Hulton, Evangeline Wassmer, William van’t Hoff, Isabelle Russell‐Eggitt, Angus Dobbie, Eamonn Sheridan, Robert Kleta, Detlef Böckenhauer

    Published 2011
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  11. 11
    PMS2 Mutations in Childhood Cancer

    PMS2 Mutations in Childhood Cancer by Michel De Vos, Bruce E. Hayward, Ruth Charlton, Graham R. Taylor, Adam Glaser, Susan Picton, Trevor Cole, Eamonn R. Maher, Carole M. E. McKeown, Jill R. Mann, John R. Yates, Diana Baralle, Julia Rankin, David T. Bonthron, Eamonn Sheridan

    Published 2006
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  12. 12
    Mutation of the Variant α-Tubulin TUBA8 Results in Polymicrogyria with Optic Nerve Hypoplasia

    Mutation of the Variant α-Tubulin TUBA8 Results in Polymicrogyria with Optic Nerve Hypoplasia by Mohammad Reza Abdollahi, Ewan E. Morrison, Tamara Sirey, Zoltán Molnár, Bruce E. Hayward, Ian Carr, Kelly Springell, C. Geoff Woods, Mushtaq Ahmed, Louise Hattingh, Peter Corry, Daniela T. Pilz, Neil Stoodley, Yanick J. Crow, Graham R. Taylor, David T. Bonthron, Eamonn Sheridan

    Published 2009
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  13. 13
    <i>HACE1</i>deficiency causes an autosomal recessive neurodevelopmental syndrome

    <i>HACE1</i>deficiency causes an autosomal recessive neurodevelopmental syndrome by Ronja Hollstein, David Parry, Nalbach Lisa, Clare V. Logan, Tim M. Strom, Verity Hartill, Ian Carr, Georg Christoph Korenke, Sandeep Uppal, Mushtaq Ahmed, Thomas Wieland, Alexander F. Markham, Christopher Bennett, Gabriele Gillessen‐Kaesbach, Eamonn Sheridan, Frank J. Kaiser, David T. Bonthron

    Published 2015
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  14. 14
    Fine-scale population structure and demographic history of British Pakistanis

    Fine-scale population structure and demographic history of British Pakistanis by Elena Arciero, Sufyan Abid Dogra, Daniel Malawsky, Massimo Mezzavilla, Theofanis Tsismentzoglou, Qin Qin Huang, Karen A. Hunt, Dan Mason, Saghira Malik Sharif, David A. van Heel, Eamonn Sheridan, John Wright, Neil Small, Shai Carmi, Mark M. Iles, Hilary C. Martin

    Published 2021
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  15. 15
    Verification of the susceptibility loci on 7p12.2, 10q21.2, and 14q11.2 in precursor B-cell acute lymphoblastic leukemia of childhood

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

    Published 2009
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  16. 16
    Mutations Causing Familial Biparental Hydatidiform Mole Implicate C6orf221 as a Possible Regulator of Genomic Imprinting in the Human Oocyte

    Mutations Causing Familial Biparental Hydatidiform Mole Implicate C6orf221 as a Possible Regulator of Genomic Imprinting in the Human Oocyte by David Parry, Clare V. Logan, Bruce E. Hayward, Michael Shires, Hanène Landolsi, Christine P. Diggle, Ian Carr, Cécile Rittore, Isabelle Touitou, Laurent Philibert, Rosemary A. Fisher, Masoumeh Fallahian, John Huntriss, Helen M. Picton, Saghira Malik, Graham R. Taylor, Colin A. Johnson, David T. Bonthron, Eamonn Sheridan

    Published 2011
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  17. 17
    Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain

    Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain by Clare V. Logan, Judith Cossins, Pedro M. Rodríguez Cruz, David Parry, Susan Maxwell, Pilar Martínez‐Martínez, Joey Riepsaame, Zakia A. Abdelhamed, Alice V. R. Lake, María Morán, S. Robb, Gabriel Chow, Caroline A. Sewry, Philip M. Hopkins, Eamonn Sheridan, Sandeep Jayawant, Jacqueline Palace, Colin A. Johnson, David Beeson

    Published 2015
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  18. 18
    Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia

    Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia by Periklis Makrythanasis, Mitsuhiro Kato, Maha S. Zaki, Hirotomo Saitsu, Kazuyuki Nakamura, Federico Santoni, Satoko Miyatake, Mitsuko Nakashima, Mahmoud Y. Issa, Michel Guipponi, Audrey Letourneau, Clare V. Logan, Nicola Roberts, David Parry, Colin A. Johnson, Naomichi Matsumoto, Hanan Hamamy, Eamonn Sheridan, Taroh Kinoshita, Stylianos E. Antonarakis, Yoshiko Murakami

    Published 2016
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  19. 19
    The Essential Role of Centrosomal NDE1 in Human Cerebral Cortex Neurogenesis

    The Essential Role of Centrosomal NDE1 in Human Cerebral Cortex Neurogenesis by Mehmet Bakırcıoğlu, Ofélia P. Carvalho, Maryam Khurshid, James J. Cox, Beyhan Tüysüz, Tanyeri Barak, Saliha Yılmaz, Ahmet Okay Çağlayan, Alp Di̇nçer, Adeline K. Nicholas, Oliver Quarrell, Kelly Springell, Gulshan Karbani, Saghira Malik, Caroline Gannon, Eamonn Sheridan, Moira Crosier, Steven Lisgo, Susan Lindsay, Kaya Bilgüvar, Fanni Gergely, Murat Günel, C. Geoffrey Woods

    Published 2011
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  20. 20
    Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects

    Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects by Kamron Khan, Clare V. Logan, Martin McKibbin, Eamonn Sheridan, Nursel Elçioğlu, Özlem Yenice, David Parry, Narcís Fernández‐Fuentes, Zakia Abdelhamed, Ahmed Al-Maskari, James A. Poulter, Moin Mohamed, Ian Carr, Joanne Morgan, Hussain Jafri, Yasmin Raashid, Graham R. Taylor, Colin A. Johnson, Chris F. Inglehearn, Carmel Toomes, Manir Ali

    Published 2011
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