Genomics England Research Consortium - Genomics England, Queen Mary University of London

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论文共 31 篇作者统计合作学者相似作者

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Adaptor protein 2 sigma subunit (AP2S1) variants associated with neurodevelopmental disorders

Mark Stevenson,Asha L Bayliss,Victoria J Stokes,Katherine A English,Kreepa G Kooblall,Roman Fischer,Raphael Heilig,Iolanda Vendrell, Maria E W A Albers, Meghan Bartos, Amber Begtrup,Alexia Bourgois,Rebecca Buchert, David J Carey, Deanna A Carere,Amanda Carnevale, Kristl G Claeys,Benjamin Cogne,Gregory Costain,Nicole de Leeuw,Anne-Sophie Denommé-Pichon,Elizabeth J Donner,Eftychia Drogouti,David A Dyment,Balram Gangaram,Tobias B Haack,Jeremy S Haley,Solveig Heide, Ralf A Hussain,Bertrand Isidor, Louise Izatt,Adeline Jacquinet, Jane Juusola, Juliette J Kahle,Boris Keren,Eric W Klee,Evgenia Kokosali,Brendan C Lanpher,Erica L Macke,Elysa J Marco, Kirsty McWalter,Bryce A Mendelsohn, Aubrey Milunshy,Matthew Osmond,Amelie Piton,Angelika Riess,Valentin Ruault,Patrick Rump,Sarah Schuhmann, Amelle L Shillington,Diane T Smelser,Lot Snijders Blok,Frederic Tran Mau-Them,Christos Tsakalidis, Abigail Turnwald,Koen L I Van Gassen,Kristof Van Schil,Georgia Vasileiou,Marissa Vawter-Lee,Marjolaine Willems,Marjolein H Willemsen,Lily C Wong-Kisiel, Antje Wonneberger,Ioannis Zaganas,Genomics England Research Consortium,Fadil M Hannan,Kate E Lines,Rajesh V Thakker

medrxiv（2024）

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A novel functional genomics atlas coupled with convolutional neural networks facilitates clinical interpretation of disease relevant variants in non-coding regulatory elements

Ruizhi Deng,Elena Perenthaler,Anita Nikoncuk,Soheil Yousefi,Kristina Lanko,Rachel Schot, Michela Maresca,Michael J. Parker,Wilfred F.J. van Ijcken,Joohyun Park,Marc Sturm,Tobias B. Haack,Genomics England Research Consortium, Gennady V Roshchupkin,Eskeatnaf Mulugeta,Tahsin Stefan Barakat

medrxiv（2024）

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Genome-wide Association Analysis Reveals Insights into the Molecular Etiology Underlying Dilated Cardiomyopathy

Sean L Zheng,Albert Henry,Douglas Cannie,Michael Lee,David Miller,Kathryn A McGurk,Isabelle Bond, Xiao Xu,Hanane Issa,Catherine Francis,Antonio De Marvao,Pantazis I Theotokis,Rachel J Buchan,Doug Speed,Erik Abner,Lance Adams,Krishna G Aragam,Johan Ärnlöv,Anna Axelsson Raja,Joshua D Backman,John Baksi,Paul JR Barton,Kiran J Biddinger,Eric Boersma,Jeffrey Brandimarto,Søren Brunak,Henning Brundgaard,David J Carey,Philippe Charron,James P Cook,Stuart A Cook,Spiros Denaxas,Jean-François Deleuze,Alexander S Doney,Perry Elliott,Christian Erikstrup,Tõnu Esko,Eric H Farber-Eger,Chris Finan,Sophie Garnier,Jonas Ghouse,Vilmantas Giedraitis,Daniel F Guðbjartsson,Christopher M Haggerty,Brian P Halliday,Anna Helgadottir,Harry Hemingway,Hans Hillege,Isabella Kardys,Lars Lind,Cecilia M Lindgren, Brandon D Lowery,Charlotte Manisty,Kenneth B Margulies,James C Moon,Ify R Mordi,Michael P Morley,Andrew D Morris,Andrew P Morris,Lori Morton,Mahdad Noursadeghi,Sisse R Ostrowski,Anjali T Owens,Colin NA Palmer,Antonis Pantazis, Ole BV Pedersen,Sanjay K Prasad,Akshay Shekhar,Diane T Smelser, Sundarajan Srinivasan,Kari Stefansson,Garðar Sveinbjörnsson,Petros Syrris,Mari-Liis Tammesoo,Upasana Tayal,Maris Teder-Laving,Guðmundur Thorgeirsson,Unnur Thorsteinsdottir,Vinicius Tragante,David-Alexandre Trégouët,Thomas A Treibel,Henrik Ullum,Ana M Valdes,Jessica van Setten,Marion van Vugt,Abirami Veluchamy,W.M.Monique Verschuuren,Eric Villard,Yifan Yang, COVIDsortium,DBDS Genomic Consortium,Genomics England Research Consortium, HERMES Consortium,Folkert W Asselbergs,Thomas P Cappola,Marie-Pierre Dube, Michael E Dunn,Patrick T Ellinor,Aroon D Hingorani,Chim C Lang,Nilesh J Samani,Svati H Shah,J Gustav Smith,Ramachandran S Vasan,Declan P O’Regan,Hilma Holm,Michela Noseda,Quinn Wells,James S Ware,R Thomas Lumbers

medrxiv（2023）

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Use of Whole Genome Sequencing to Determine the Genetic Basis of Visceral Myopathies Including Prune Belly Syndrome

Robert M Geraghty,Sarah Orr,Eric Olinger,Ruxandra Neatu,Miguel Barroso-Gil,Holly Mabillard,Genomics England Research Consortium,Ian Wilson,John A Sayer

Journal of rare diseases (Berlin, Germany)no. 1 (2023): 9-9

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Comprehensive repertoire of the chromosomal alteration and mutational signatures across 16 cancer types from 10,983 cancer patients

Andrew Everall,Avraam Tapinos,Aliah Hawari,Alex Cornish,Amit Sud,Daniel Chubb,Ben Kinnersley,Anna Frangou,Miguel Barquin,Josephine Jung,David N Church,Genomics England Research Consortium,Ludmil B Alexandrov,Richard Houlston,Andreas J Gruber,David C Wedge

medRxiv (Cold Spring Harbor Laboratory) (2023)

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Cancer Driver Genes and Opportunities for Precision Oncology Revealed by Whole Genome Sequencing 10,478 Cancers

Ben Kinnersley,Amit Sud,Andrew Everall, Alex J. Cornish,Daniel Chubb,Richard Culliford,Andreas Gruber, Adrian Lärkeryd,Costas Mitsopoulos,Genomics England Research Consortium,David Wedge,Richard Houlston

medrxiv（2023）

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Phenotype‐driven Approaches to Enhance Variant Prioritization and Diagnosis of Rare Disease

Julius O B Jacobsen,Catherine Kelly,Valentina Cipriani,Genomics England Research Consortium,Christopher J Mungall,Justin Reese,Daniel Danis,Peter N Robinson,Damian Smedley

Human mutation（2022）

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Improved Diagnosis of Rare Disease Patients Through Application of Constrained Coding Region Annotation and De Novo Status

Hywel J Williams,Chris Odhams,Genomics England

crossref（2022）

引用1浏览0引用

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