检索结果 - Ian Berry

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  1. 1
    Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders

    Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders 由 Daniel Greene, Chantal Thys, Ian Berry, Joanna Jarvis, Els Ortibus, Andrew Mumford, Kathleen Freson, Ernest Turro

    出版 2024
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  2. 2
    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 由 Danielle Ingham, Christine P. Diggle, Ian Berry, Claire Bristow, Bruce E. Hayward, Nazneen Rahman, Alexander F. Markham, Eamonn Sheridan, David T. Bonthron, Ian Carr

    出版 2013
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  3. 3
    Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping

    Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping 由 Christopher M. Watson, Laura A. Crinnion, Ian Berry, Sally M. Harrison, Carolina Lascelles, Agne Antanaviciute, Ruth Charlton, Angus Dobbie, Ian Carr, David T. Bonthron

    出版 2016
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  4. 4
    Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies

    Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies 由 Katarzyna Szymańska, Ian Berry, Clare V. Logan, Simon RR Cousins, Helen Lindsay, Hussain Jafri, Yasmin Raashid, Saghira Malik-Sharif, Bruce Castle, Mushtag Ahmed, Chris Bennett, Ruth Carlton, Colin A. Johnson

    出版 2012
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  5. 5
    Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations

    Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations 由 Alice Garrett, Miranda Durkie, Alison Callaway, George J. Burghel, Rachel Robinson, James Drummond, Bethany Torr, Cankut Çubuk, Ian Berry, Andrew Wallace, Sian Ellard, Diana Eccles, Marc Tischkowitz, Helen Hanson, Clare Turnbull

    出版 2020
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  6. 6
    Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes

    Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes 由 Cankut Çubuk, Alice Garrett, Subin Choi, Laura King, Chey Loveday, Bethany Torr, George J. Burghel, Miranda Durkie, Alison Callaway, Rachel Robinson, James Drummond, Ian Berry, Andrew Wallace, Diana Eccles, Marc Tischkowitz, Nicola Whiffin, James S. Ware, Helen Hanson, Clare Turnbull

    出版 2021
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  7. 7
    Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network

    Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network 由 Alice Garrett, Alison Callaway, Miranda Durkie, Cankut Çubuk, Mary Alikian, George J. Burghel, Rachel Robinson, Louise Izatt, Sabrina Talukdar, Lucy Side, Treena Cranston, Sheila Palmer-Smith, Diana Baralle, Ian Berry, James Drummond, Andrew Wallace, Gail Norbury, Diana Eccles, Sian Ellard, Fiona Lalloo, D. Gareth Evans, Emma R. Woodward, Marc Tischkowitz, Helen Hanson, Clare Turnbull

    出版 2020
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  8. 8
    Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects

    Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects 由 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 Carr, David T. Bonthron, Michel R. Leroux, Kym M. Boycott, Philippe Bastin, Eamonn Sheridan

    出版 2018
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  9. 9
    Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome

    Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome 由 Susan Walker, David J. Bunyan, Huw B. Thomas, Yeşim Kesim, Christopher J. Kershaw, John W. Holloway, Htoo A. Wai, Michael Day, Cassandra L. Smith, Gareth Hawkes, Andrew R. Wood, Michael N. Weedon, Ed Blair, Stephanie Curtis, Catherine Fielden, Julie Evans, Rebecca Whittington, Sarah Smithson, Helen Cox, Paul Clift, Meriel McEntagart, Matina Prapa, Suzanne Alsters, Deborah Morris‐Rosendahl, John Dean, Patrick J. Morrison, Abhijit Dixit, Ajoy Sarkar, Katrina Prescott, Leila Amel Riazat Kesh, Ravi Tharakan, Claire Turner, Sian Ellard, Charles Shaw‐Smith, James Fasham, Virginia Clowes, Simon Holden, Suresh Somarathi, Catherine Mercer, Ian Berry, Raymond T. O’Keefe, Siddharth Banka, Diana Baralle, Neil Thomas, Emma L. Baple, Jenny C. Taylor, Alistair T. Pagnamenta

    出版 2025
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  10. 10
    Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

    Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study 由 Jenny Lord, Dominic McMullan, Ruth Y. Eberhardt, Gabriele Rinck, Susan Hamilton, E Quinlan-Jones, Elena Prigmore, Rebecca Keelagher, Sunayna Best, Georgina K. Carey, Rhiannon Mellis, Sarah Robart, Ian Berry, Kate Chandler, Deirdre Cilliers, Lara Cresswell, Sandra L. Edwards, Carol Gardiner, Alex Henderson, Simon Holden, Tessa Homfray, Tracy Lester, Rebecca Lewis, Ruth Newbury‐Ecob, Katrina Prescott, Oliver Quarrell, Simon Ramsden, Eileen Roberts, Dagmar Tapon, Madeleine Tooley, Pradeep Vasudevan, Astrid Weber, Diana Wellesley, Paul Westwood, Helen White, Michael Parker, Denise Williams, Lucy Jenkins, Richard H. Scott, Mark D. Kilby, Lyn S. Chitty, Matthew E. Hurles, Eamonn R. Maher, Mark S. Bateman, Ian Berry, Sunayna Best, Carolyn Campbell, Jenni Campbell, Georgina K. Carey, Kate Chandler, Lyn S. Chitty, Deirdre Cilliers, Kelly Cohen, Emma Collingwood, P. Constantinou, Lara Cresswell, Catherine Delmege, Ruth Y. Eberhardt, Sandra L. Edwards, Richard J. Ellis, Jerry Evans, Thomas R. Everett, Clare F Pinto, Natalie Forrester, Emma Fowler, Carol Gardiner, Susan Hamilton, Karen Healey, Alex Henderson, Simon Holden, Tessa Homfray, Rebecca Hudson, Matthew E. Hurles, Lucy Jenkins, Rebecca Keelagher, Mark D. Kilby, Tracey Lester, Rebecca Lewis, Jenny Lord, Eamonn R. Maher, Tamás Marton, Dominic McMullan, Sarju Mehta, Rhiannon Mellis, Ruth Newbury‐Ecob, Soo‐Mi Park, Michael Parker, Katrina Prescott, Elena Prigmore, Oliver Quarrell, E Quinlan-Jones, Simon Ramsden, Gabriele Rinck, Sarah Robart, Eileen Roberts, Jayne Rowland, Richard H. Scott, James Steer, Dagmar Tapon, Emma J. Taylor

    出版 2019
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  11. 11
    Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

    Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature 由 Dmitrijs Rots, Eric Chater‐Diehl, Alexander J.M. Dingemans, Sarah J. Goodman, Michelle T. Siu, Cheryl Cytrynbaum, Sanaa Choufani, Ny Hoang, Susan Walker, Zain Awamleh, Joshua Charkow, M. Stephen Meyn, Rolph Pfundt, Tuula Rinne, Thatjana Gardeitchik, Bert B.A. de Vries, A. Chantal Deden, Erika Leenders, Michael Kwint, Constance T. R. M. Stumpel, Servi J.C. Stevens, Jeroen R. Vermeulen, Jeske van Harssel, Daniëlle G.M. Bosch, Koen L.I. van Gassen, Ellen van Binsbergen, Christa M. de Geus, Hein Brackel, Maja Hempel, Davor Lessel, Jonas Denecke, Anne Slavotinek, Jonathan B. Strober, Amy Crunk, Leandra Folk, Ingrid M. Wentzensen, Hui Yang, Fanggeng Zou, Francisca Millan, Richard Person, Yili Xie, Shuxi Liu, Lilian Bomme Ousager, Martin J. Larsen, Laura Schultz‐Rogers, Éva Morava, Eric W. Klee, Ian Berry, Jennifer Campbell, Kristin Lindstrom, Brianna Pruniski, Ann M. Neumeyer, Jessica A. Radley, Chanika Phornphutkul, Berkley Schmidt, William G. Wilson, Katrin Õunap, Karit Reinson, Sander Pajusalu, Arie van Haeringen, Claudia Ruivenkamp, Roos Cuperus, Fernando Santos‐Simarro, María Palomares‐Bralo, Marta Pacio‐Míguez, Alyssa Ritter, Elizabeth Bhoj, Elin Tønne, Kristian Tveten, Gerarda Cappuccio, Nicola Brunetti‐Pierri, Leah J. Rowe, Jason Bunn, Margarita Sáenz, Konrad Platzer, Mareike Mertens, Oana Caluseriu, Małgorzata J.M. Nowaczyk, Ronald D. Cohn, Pekka Kannus, Ebba Alkhunaizi, David Chitayat, Stephen W. Scherer, Han G. Brunner, Lisenka E.L.M. Vissers, Tjitske Kleefstra, David A. Koolen, Rosanna Weksberg

    出版 2021
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