Charles Shaw-Smith - Royal Devon University Hospital, Royal Devon University Healthcare NHS Foundation Trust

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论文共 69 篇作者统计合作学者相似作者

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Utility of Genome Sequencing and Group-Enrichment to Support Splice Variant Interpretation in Marfan Syndrome

Susan Walker,David J. Bunyan,Huw B. Thomas,Yesim Kesim,Christopher J. Kershaw,John Holloway,Htoo Wai, Michael Day, Cassandra L. Smith,Gareth Hawkes,Andrew R. Wood,Michael N. Weedon, Ed Blair,Stephanie L. Curtis, Catherine Fielden,Julie Evans,Rebecca Whittington,Sarah F. 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, Riya 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,N. Simon Thomas,Emma L. Baple,Jenny C. Taylor,Alistair T. Pagnamenta

medrxiv（2025）

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Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design

MOVEMENT DISORDERS（2024）

引用2浏览0WOS引用

The Impact of Inversions Across 33,924 Families with Rare Disease from a National Genome Sequencing Project

Alistair T. Pagnamenta,Jing Yu,Susan Walker,Alexandra J. Noble,Jenny Lord, Prasun Dutta,Mona Hashim,Carme Camps, Hannah Green, Smrithi Devaiah,Lina Nashef, Jason Parr,Carl Fratter, Rana Ibnouf Hussein,Sarah J. Lindsay,Fiona Lalloo,Benito Banos-Pinero,David Evans, Lucy Mallin, Adrian Waite,Julie Evans, Andrew Newman, Zoe Allen, Cristina Perez-Becerril,Gavin Ryan,Rachel Hart,John Taylor,Tina Bedenham,Emma Clement,Ed Blair,Eleanor Hay,Francesca Forzano,Jenny Higgs,Natalie Canham,Anirban Majumdar,Meriel Mcentagart,Nayana Lahiri,Helen Stewart,Sarah Smithson,Eduardo Calpena,Adam Jackson,Siddharth Banka,Hannah Titheradge,Ruth Mcgowan,Julia Rankin,Charles Shaw-Smith,D. Gareth Evans,George J. Burghel,Miriam J. Smith,Emily Anderson,Rajesh Madhu,Helen Firth,Sian Ellard,Paul Brennan, Claire Anderson, Doug Taupin,Mark T. Rogers,Jackie A. Cook,Miranda Durkie,James E. East,Darren Fowler,Louise Wilson,Rebecca Igbokwe,Alice Gardham,Ian Tomlinson,Diana Baralle,Holm H. Uhlig,Jenny C. Taylor

AMERICAN JOURNAL OF HUMAN GENETICSno. 6 (2024): 1140-1164

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The Common PKD1 P.(ile3167phe) Variant is Hypomorphic and Associated with Very Early Onset, Biallelic Polycystic Kidney Disease

Miranda Durkie,Christopher M. Watson,Peter Winship, Anne-Cecile Hogg,Rodney Nyanhete,Sharon Cooley,Manoj K. Valluru,Charles Shaw-Smith,Coralie Bingham,Mark Gilchrist,Janna Kenny,Albert C. M. Ong

HUMAN MUTATION (2023)

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Agustí Rodríguez-Palmero,Melissa Maria Boerrigter,David Gómez-Andrés,Kimberly A. Aldinger,Íñigo Marcos-Alcalde,Bernt Popp,David B. Everman,Alysia Kern Lovgren,Stephanie Arpin,Vahid Bahrambeigi,Gea Beunders,Anne-Marie Bisgaard,V. A. Bjerregaard,Ange-Line Bruel,Thomas D. Challman,Benjamin Cogné,Christine Coubes,Stella A. de Man,Anne-Sophie Denommé-Pichon,Thomas J. Dye,Frances Elmslie,Lars Feuk,Sixto García-Miñaúr,Tracy Gertler,Elisa Giorgio,Nicolas Gruchy,Tobias B. Haack,Chad R. Haldeman-Englert,Bjørn Ivar Haukanes,Juliane Hoyer,Anna C. E. Hurst,Bertrand Isidor,Maria Johansson Soller,Sulagna Kushary,Malin Kvarnung,Yuval E. Landau,Kathleen A. Leppig,Anna Lindstrand,Lotte Kleinendorst,Alex MacKenzie,Giorgia Mandrile,Bryce A. Mendelsohn,Setareh Moghadasi,Jenny E. Morton,Sebastien Moutton,Amelie J. Müller,Melanie O’Leary,Marta Pacio-Míguez,Maria Palomares-Bralo,Sumit Parikh, Rolph Pfundt,Ben Pode-Shakked,Anita Rauch,Elena Repnikova,Anya Revah-Politi,Meredith J. Ross,Claudia A. L. Ruivenkamp,Elisabeth Sarrazin,Juliann M. Savatt,Agatha Schlüter,Bitten Schönewolf-Greulich,Zohra Shad,Charles Shaw-Smith,Joseph T. Shieh, Motti Shohat,Stephanie Spranger,Heidi Thiese,Frederic Tran Mau-Them,Bregje van Bon, Ineke van de Burgt,Ingrid M. B. H. van de Laar, Esmée van Drie,Mieke M. van Haelst,Conny M. van Ravenswaaij-Arts,Edgard Verdura,Antonio Vitobello,Stephan Waldmüller,Sharon Whiting,Christiane Zweier,Carlos E. Prada,Bert B. A. de Vries,William B. Dobyns,Simone F. Reiter,Paulino Gómez-Puertas,Aurora Pujol,Zeynep Tümer

Genetics in Medicine（2021）

引用19浏览0WOS引用

Missense Substitutions at a Conserved 14-3-3 Binding Site in HDAC4 Cause a Novel Intellectual Disability Syndrome

Emma Wakeling,Meriel McEntagart,Michael Bruccoleri,Charles Shaw-Smith,Karen L. Stals,Matthew Wakeling,Angela Barnicoat,Clare Beesley,Andrea K. Hanson-Kahn,Mary Kukolich,David A. Stevenson,Philippe M. Campeau,Sian Ellard,Sarah H. Elsea,Xiang-Jiao Yang,Richard C. Caswell

Human Genetics and Genomics Advancesno. 1 (2021): 100015-100015

引用7浏览0WOS引用

An International Cohort Study of Autosomal Dominant Tubulointerstitial Kidney Disease Due to REN Mutations Identifies Distinct Clinical Subtypes

Martina Zivna,Kendrah Kidd,Mohamad Zaidan,Petr Vyletal,Veronika Baresova,Katerina Hodanova,Jana Sovova,Hana Hartmannova,Miroslav Votruba,Helena Treslova,Ivana Jedlickova,Jakub Sikora,Helena Hulkova,Victoria Robins,Ales Hnizda,Jan Zivny,Gregory Papagregoriou,Laurent Mesnard,Bodo B. Beck,Andrea Wenzel,Kalman Tory, Karsten Haeeffner,Matthias T. F. Wolf, Michael E. Bleyer,John A. Sayer,Albert C. M. Ong,Lidia Balogh,Anna Jakubowska,Agnieszka Laszkiewicz, Rhian Clissold,Charles Shaw-Smith,Raj Munshi, Robert M. Haws,Claudia Izzi,Irene Capelli,Marisa Santostefano,Claudio Graziano,Francesco Scolari,Amy Sussman,Howard Trachtman, Stephane Decramer,Marie Matignon,Philippe Grimbert, Lawrence R. Shoemaker,Christoforos Stavrou, Mayssa Abdelwahed,Neila Belghith,Matthew Sinclair,Kathleen Claes, Tal Kopel, Sharon Moe,Constantinos Deltas,Bertrand Knebelmann,Luca Rampoldi,Stanislav Kmoch,Anthony J. Bleyer

Kidney International（2020）

引用25浏览0WOS引用

Phenotypic Expansion of Bosch–Boonstra–Schaaf Optic Atrophy Syndrome and Further Evidence for Genotype–phenotype Correlations

Megan E. Rech, John M. McCarthy,Chun-An Chen,Jane C. Edmond,Veeral S. Shah,Danielle G. M. Bosch,Gerard T. Berry,Linford Williams,Suneeta Madan-Khetarpal,Dmitriy Niyazov,Charles Shaw-Smith,Erin M. Kovar,Philip J. Lupo,Christian P. Schaaf

American Journal of Medical Genetics Part A（2020）

引用24浏览0WOS引用

Familial Interstitial Nephritis: 42 Years from Case Series to Genetic Diagnosis

Rhian L. Clissold,Coralie Bingham,Charles Shaw-Smith

Clinical Nephrology（2019）

引用0浏览0WOS引用

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