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Andrew D. Devereau
Researcher at Queen Mary University of London
Publications - 9
Citations - 984
Andrew D. Devereau is an academic researcher from Queen Mary University of London. The author has contributed to research in topics: Medicine & Biology. The author has an hindex of 2, co-authored 2 publications receiving 790 citations.
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Journal ArticleDOI
The Human Phenotype Ontology in 2017
Sebastian Köhler,Nicole Vasilevsky,Mark Engelstad,Erin D. Foster,Julie A. McMurry,Ségolène Aymé,Gareth Baynam,Gareth Baynam,Susan M. Bello,Cornelius F. Boerkoel,Kym M. Boycott,Michael Brudno,Orion J. Buske,Patrick F. Chinnery,Valentina Cipriani,Laureen E. Connell,Hugh Dawkins,Laura E. DeMare,Andrew D. Devereau,Bert B.A. de Vries,Helen V. Firth,Kathleen Freson,Daniel Greene,Ada Hamosh,Ingo Helbig,Ingo Helbig,Courtney Hum,Johanna A. Jähn,Roger James,Roland Krause,Stanley J. F. Laulederkind,Hanns Lochmüller,Gholson J. Lyon,Soichi Ogishima,Annie Olry,Willem H. Ouwehand,Nikolas Pontikos,Ana Rath,Franz Schaefer,Richard H. Scott,Michael M. Segal,Panagiotis I. Sergouniotis,Richard Sever,Cynthia L. Smith,Volker Straub,Rachel Thompson,C. Turner,Ernest Turro,Marijcke W. M. Veltman,Tom Vulliamy,Jing Yu,Julie von Ziegenweidt,Andreas Zankl,Stephan Züchner,Tomasz Zemojtel,Julius O.B. Jacobsen,Tudor Groza,Damian Smedley,Christopher J. Mungall,Melissa A. Haendel,Peter N. Robinson +60 more
TL;DR: The progress of the HPO project is reviewed, including specific areas of expansion such as common (complex) disease, new algorithms for phenotype driven genomic discovery and diagnostics, integration of cross-species mapping efforts with the Mammalian Phenotype Ontology, an improved quality control pipeline, and the addition of patient-friendly terminology.
Journal ArticleDOI
The 100 000 Genomes Project: bringing whole genome sequencing to the NHS
Clare Turnbull,Richard H Scott,Ellen Thomas,Louise Jones,N. Murugaesu,Freya Boardman Pretty,Dina Halai,Emma L. Baple,C. E. H. Craig,Angela Hamblin,Shirley Henderson,Christine Patch,Christine Patch,Amanda O’Neill,Andrew D. Devereau,Katherine R. Smith,Antonio Rueda Martin,Alona Sosinsky,Ellen M. McDonagh,Razvan Sultana,Michael J. Mueller,Damian Smedley,Adam Toms,Lisa Dinh,Tom Fowler,Mark Bale,Tim Hubbard,Augusto Rendon,Sue Hill,Mark J. Caulfield +29 more
TL;DR: Genomics England’s ambitious plans to embed genomic medicine into routine patient care are well underway and Clare Turnbull and colleagues discuss its progress.
Journal ArticleDOI
Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study
Kristina Ibáñez,James M. Polke,R. Tanner Hagelstrom,Egor Dolzhenko,Dorota Pasko,Ellen R A Thomas,Louise C. Daugherty,Dalia Kasperaviciute,Katherine R. Smith,Zandra C. Deans,Sue Hill,Tom Fowler,Richard T. Scott,John Hardy,Patrick F. Chinnery,Henry Houlden,Augusto Rendon,Mark J. Caulfield,Michael A. Eberle,Ryan J. Taft,Arianna Tucci,J. Ambrose,Prabhu Arumugam,Marta Bleda,Freya Boardman-Pretty,Jean-Marie Boissiere,Chris Boustred,C. E. H. Craig,Anna de Burca,Andrew D. Devereau,Greg Elgar,Rebecca E. Foulger,Pedro Furió-Tarí,J. Hackett,Dina Halai,Angela Hamblin,Shirley Henderson,J. Holman,Tim Hubbard,R. Jackson,L. J. Jones,Melis Kayikci,L. Lahnstein,K. Lawson,Sarah Leigh,I. Leong,Javier Fernández López,Fiona Maleady-Crowe,Joanne Mason,M. Mueller,Nirupa Murugaesu,Christopher A. Odhams,Daniel Perez-Gil,Dimitris Polychronopoulos,John Pullinger,T. Rahim,Pablo Riesgo-Ferreiro,Tim Rogers,Mina Ryten,Kevin Savage,K. Sawant,Afshan Siddiq,A. Sieghart,Damian Smedley,Alona Sosinsky,William Spooner,H. E. Stevens,Alexander Stuckey,Razvan Sultana,Simon G. Thompson,Carolyn Tregidgo,E. Walsh,Sarah A. Watters,M. Welland,Eleanor Williams,K. Witkowska,S. Wood,Magdalena Zarowiecki +77 more
TL;DR: In this study, whole genome sequencing for the detection of repeat expansions showed high sensitivity and specificity, and it led to identification of neurological repeat expansion disorders in previously undiagnosed patients.
Journal ArticleDOI
Genotype–phenotype correlations for COL4A3–COL4A5 variants resulting in Gly substitutions in Alport syndrome
Joel Gibson,Marina Shenelli Croos Dabrera,Krushnam Shukla,Hansjörg Rothe,P. Hilbert,Constantinos Deltas,Helen Storey,Beata S. Lipska-Ziętkiewicz,Melanie M. Y. Chan,Omid Sadeghi-Alavijeh,Daniel Gale,J. Ambrose,Prabhu Arumugam,Emma L. Baple,Marta Bleda,Freya Boardman-Pretty,Jean-Marie Boissiere,Chris Boustred,Helen Brittain,Mark J. Caulfield,G. Chan,C. E. H. Craig,Louise C. Daugherty,Anna de Burca,Andrew D. Devereau,Guy Elgar,Rebecca E. Foulger,Tom Fowler,Pedro Furió-Tarí,Adam Giess,J. Hackett,Dina Halai,A Hamblin,Seth Henderson,J. Holman,Tim Hubbard,Kristina Ibáñez,R. Jackson,L. J. Jones,Dalia Kasperaviciute,Melis Kayikci,Athanasios Kousathanas,L. Lahnstein,K. Lawson,Sarah Leigh,I. Leong,F. J. López,Fiona Maleady-Crowe,John Mason,Eamonn McDonagh,Loukas Moutsianas,M. Mueller,Nirupa Murugaesu,Anna C. Need,Christopher A. Odhams,Aldo Orioli,Clyde L. Patch,Daniel Perez-Gil,M. Pereira,Dimitris Polychronopoulos,John Pullinger,T. Rahim,Augusto Rendon,Pablo Riesgo-Ferreiro,Tim Rogers,Mina Ryten,K Savage,K. Sawant,Richard T. Scott,Afshan Siddiq,A. Sieghart,D. A. Smedley,K. Smith,S.C. Smith,Alona Sosinsky,William Spooner,H. E. Stevens,Alexander Stuckey,Rozina Sultana,Maël Tanguy,Era Thomas,Simon G. Thompson,Carolyn Tregidgo,Arianna Tucci,E. Walsh,Sarah A. Watters,M. Welland,Eleanor Williams,K. Witkowska,S. Wood,Magdalena Zarowiecki,Agne Cerkauskaite,Judy Savige +92 more
TL;DR: In this article , the authors examined the molecular characteristics of Gly substitutions that determine the severity of clinical features, including exon location (1 to 20 or 21 to carboxyl terminus), being adjacent to a non-collagenous region, and the degree of instability caused by the replacement residue.
Journal ArticleDOI
Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy
Robert Lesurf,Abdelrahman Fekry Abdelrahman Said,Oyediran Akinrinade,Jeroen Breckpot,Kathleen Delfosse,Ting Liu,Roderick Yao,Gabrielle Persad,Fintan McKenna,Ramil R. Noche,Winona Oliveros,Kaia Mattioli,Anastasia Miron,Qian Yang,Guoliang Meng,M. Yue,Wilson W L Sung,Bhooma Thiruvahindrapuram,Jane Lougheed,Erwin Oechslin,Tapas Mondal,Lynn Bergin,John Smythe,Shashank Jayappa,Vinay J. Rao,Jayaprakash Shenthar,Perundurai S. Dhandapany,Christopher Semsarian,Robert G. Weintraub,Richard D. Bagnall,Jodie Ingles,J. Ambrose,Prabhu Arumugam,Emma L. Baple,Marta Bleda,Freya Boardman-Pretty,Jean-Marie Boissiere,Chris Boustred,Hank Brittain,Margaret Caulfield,G. Chan,C. E. H. Craig,Louise C. Daugherty,Anna de Burca,Andrew D. Devereau,Guy Elgar,Rebecca E. Foulger,Tom Fowler,Pedro Furió-Tarí,Adriane Giess,J. Hackett,Dina Halai,A Hamblin,Seth Henderson,J. Holman,Tim Hubbard,Kristina Ibáñez,R. Jackson,L. J. Jones,Dalia Kasperaviciute,Mehmet Suat Kayikci,Athanasios Kousathanas,L. Lahnstein,K. Lawson,Sarah Leigh,I. Leong,F. J. López,Fiona Maleady-Crowe,John Mason,Eamonn McDonagh,Loukas Moutsianas,M. Mueller,Nirupa Murugaesu,Anna C. Need,Christopher A. Odhams,A. L. Orioli,Clyde L. Patch,Daniel Perez-Gil,M. Pereira,Dimitris Polychronopoulos,John Pullinger,T. Rahim,Augusto Rendon,Pablo Riesgo-Ferreiro,Tim Rogers,Mark Ryten,K Savage,K. Sawant,Robt. H. Scott,Afshan Siddiq,A. Sieghart,D. A. Smedley,K. Smith,S.C. Smith,Alona Sosinsky,William Spooner,H. E. Stevens,Alexander Stuckey,Rozina Sultana,Maël Tanguy,Era Thomas,Simon G. Thompson,Carolyn Tregidgo,Arianna Tucci,E. Walsh,Stephen Andrew Watters,M. Welland,Eleanor Williams,K. Witkowska,S. Wood,Magdalena Zarowiecki,Marta Mele,Philipp Maass,James H Ellis,Stephen W. Scherer,Seema Mital +115 more
TL;DR: In this paper , the authors analyzed whole-genome sequencing (WGS) data in a discovery cohort of 209 pediatric CMP patients and 1953 independent replication genomes and exomes and provided strong evidence for the genomic contribution of functionally active variants in new genes and in regulatory elements of known CMP genes to early onset CMP.