S
Sanjeev S. Bhaskar
Researcher at St Mary's Hospital
Publications - 45
Citations - 4346
Sanjeev S. Bhaskar is an academic researcher from St Mary's Hospital. The author has contributed to research in topics: Exome sequencing & Exome. The author has an hindex of 27, co-authored 44 publications receiving 3700 citations. Previous affiliations of Sanjeev S. Bhaskar include Wellcome Trust Sanger Institute & Central Manchester University Hospitals NHS Foundation Trust.
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Journal ArticleDOI
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
Nicholas John Craddock,Matthew E. Hurles,Niall Cardin,Richard D. Pearson,Vincent Plagnol,Samuel Robson,Damjan Vukcevic,Chris P. Barnes,Donald F. Conrad,Eleni Giannoulatou,Christopher Holmes,Jonathan Marchini,Kathy Stirrups,Martin D. Tobin,Louise V. Wain,Christopher Yau,Jan Aerts,Tariq Ahmad,T. Daniel Andrews,Hazel Arbury,Anthony Attwood,Anthony Attwood,Anthony Attwood,Adam Auton,Stephen G. Ball,Anthony J. Balmforth,Jeffrey C. Barrett,Inês Barroso,Anne Barton,Amanda J. Bennett,Sanjeev S. Bhaskar,Katarzyna Blaszczyk,John Bowes,Oliver J. Brand,Peter S. Braund,Francesca Bredin,Gerome Breen,Gerome Breen,Morris J. Brown,Ian N. Bruce,Jaswinder Bull,Oliver S. Burren,John Burton,Jake K. Byrnes,Sian Caesar,Chris Clee,Alison J. Coffey,John M. C. Connell,Jason D. Cooper,Anna F. Dominiczak,Kate Downes,Hazel E. Drummond,Darshna Dudakia,Andrew Dunham,Bernadette Ebbs,Diana Eccles,Sarah Edkins,Cathryn Edwards,Anna Elliot,Paul Emery,David M. Evans,Gareth Evans,Steve Eyre,Anne Farmer,I. Nicol Ferrier,Lars Feuk,Lars Feuk,Tomas W Fitzgerald,Edward Flynn,Alistair Forbes,Liz Forty,Jayne A. Franklyn,Jayne A. Franklyn,Rachel M. Freathy,Polly Gibbs,Paul Gilbert,Omer Gokumen,Katherine Gordon-Smith,Katherine Gordon-Smith,Emma Gray,Elaine K. Green,Christopher J. Groves,Detelina Grozeva,Rhian Gwilliam,A Hall,Naomi Hammond,Matthew Hardy,Pile Harrison,Neelam Hassanali,Husam Hebaishi,Sarah Hines,Anne Hinks,Graham A. Hitman,Lynne J. Hocking,Eleanor Howard,Philip Howard,Joanna M. M. Howson,Debbie Hughes,Sarah E. Hunt,John D. Isaacs,Mahim Jain,Derek P. Jewell,Toby Johnson,Jennifer Jolley,Jennifer Jolley,Ian Jones,Lisa Jones,George Kirov,Cordelia Langford,Hana Lango-Allen,G. Mark Lathrop,James Lee,Kate L. Lee,Charlie W. Lees,Kevin Lewis,Cecilia M. Lindgren,Meeta Maisuria-Armer,Julian Maller,John C. Mansfield,Paul Martin,Dunecan Massey,Wendy L. McArdle,Peter McGuffin,Kirsten McLay,Alexander J. Mentzer,Michael L. Mimmack,Ann E. Morgan,Andrew P. Morris,Craig Mowat,Simon Myers,William G. Newman,Elaine R. Nimmo,Michael Conlon O'Donovan,Abiodun Onipinla,Ifejinelo Onyiah,Nigel R. Ovington,Michael John Owen,Kimmo Palin,Kirstie Parnell,David Pernet,John R. B. Perry,Anne M. Phillips,Dalila Pinto,Natalie J. Prescott,Inga Prokopenko,Michael A. Quail,Suzanne Rafelt,Nigel W. Rayner,Richard Redon,David M. Reid,Anthony Renwick,Susan M. Ring,Neil Robertson,E. Russell,David St Clair,Jennifer G. Sambrook,Jennifer G. Sambrook,Jeremy D. Sanderson,Helen Schuilenburg,Carol Scott,Richard T. Scott,Sheila Seal,Sue Shaw-Hawkins,Beverley M. Shields,Matthew J. Simmonds,Debbie J. Smyth,Elilan Somaskantharajah,Katarina Spanova,Sophia Steer,Jonathan Stephens,Jonathan Stephens,Helen Stevens,Millicent A. Stone,Millicent A. Stone,Zhan Su,Deborah P M Symmons,John R. Thompson,Wendy Thomson,Mary E. Travers,Clare Turnbull,Armand Valsesia,Mark Walker,Neil Walker,Chris Wallace,Margaret Warren-Perry,Nicholas A. Watkins,Nicholas A. Watkins,John Webster,Michael N. Weedon,Anthony G. Wilson,Matthew Woodburn,B. Paul Wordsworth,Allan H. Young,Allan H. Young,Eleftheria Zeggini,Eleftheria Zeggini,Nigel P. Carter,Timothy M. Frayling,Charles Lee,Gil McVean,Patricia B. Munroe,Aarno Palotie,Stephen Sawcer,Stephen W. Scherer,David P. Strachan,Chris Tyler-Smith,Matthew A. Brown,Matthew A. Brown,Paul Burton,Mark J. Caulfield,Alastair Compston,Martin Farrall,Stephen C. L. Gough,Stephen C. L. Gough,Alistair S. Hall,Andrew T. Hattersley,Adrian V. S. Hill,Christopher G. Mathew,Marcus Pembrey,Jack Satsangi,Michael R. Stratton,Jane Worthington,Panos Deloukas,Audrey Duncanson,Dominic P. Kwiatkowski,Dominic P. Kwiatkowski,Mark I. McCarthy,Willem H. Ouwehand,Willem H. Ouwehand,Willem H. Ouwehand,Miles Parkes,Nazneen Rahman,John A. Todd,Nilesh J. Samani,Nilesh J. Samani,Peter Donnelly +235 more
TL;DR: A large, direct genome-wide study of association between CNVs and eight common human diseases concludes that common CNVs that can be typed on existing platforms are unlikely to contribute greatly to the genetic basis ofcommon human diseases.
Journal ArticleDOI
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature
Gillian I. Rice,Paul R. Kasher,Gabriella Forte,Niamh M. Mannion,Sam M. Greenwood,Marcin Szynkiewicz,Jonathan E. Dickerson,Sanjeev S. Bhaskar,Massimiliano Zampini,Tracy A Briggs,Emma M. Jenkinson,Carlos A. Bacino,Roberta Battini,Enrico Bertini,Paul A. Brogan,Louise Brueton,Marialuisa Carpanelli,Corinne De Laet,Pascale de Lonlay,Mireia Del Toro,Isabelle Desguerre,Elisa Fazzi,Angels García-Cazorla,Arvid Heiberg,Masakazu Kawaguchi,Ram L. Kumar,Jean-Pierre Lin,Charles Marques Lourenço,Alison Male,Wilson Marques,Cyril Mignot,Ivana Olivieri,Simona Orcesi,Prab Prabhakar,Magnhild Rasmussen,Robert Robinson,Flore Rozenberg,Johanna L. Schmidt,Katharina Steindl,Tiong Yang Tan,William G. Van Der Merwe,Adeline Vanderver,Grace Vassallo,Emma Wakeling,Evangeline Wassmer,Elizabeth Whittaker,John H. Livingston,Pierre Lebon,Tamio Suzuki,Paul J. McLaughlin,Liam Keegan,Mary A O'Connell,Simon C. Lovell,Yanick J. Crow +53 more
TL;DR: It is shown that mutations in ADAR1 cause the autoimmune disorder Aicardi-Goutières syndrome (AGS), and it is speculated that ADar1 may limit the cytoplasmic accumulation of the dsRNA generated from genomic repetitive elements.
Journal ArticleDOI
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus
Beverley Anderson,Paul R. Kasher,Josephine Mayer,Marcin Szynkiewicz,Emma M. Jenkinson,Sanjeev S. Bhaskar,Jill E. Urquhart,Sarah B. Daly,Jonathan E. Dickerson,James O'Sullivan,Elisabeth Oppliger Leibundgut,Joanne Muter,Ghada M H Abdel-Salem,Riyana Babul-Hirji,Peter Baxter,Andrea Berger,Andrea Berger,Luisa Bonafé,Janice E Brunstom-Hernandez,Johannes A. Buckard,David Chitayat,Wui K. Chong,Duccio Maria Cordelli,Patrick Ferreira,Joel Victor Fluss,Ewan Forrest,Emilio Franzoni,Caterina Garone,Caterina Garone,Simon Hammans,Gunnar Houge,Imelda Hughes,Sébastien Jacquemont,Pierre-Yves Jeannet,Rosalind J. Jefferson,Ram L. Kumar,Georg Kutschke,Staffan Lundberg,Charles Marques Lourenço,Ramesh Mehta,Sakkubai Naidu,Ken K. Nischal,Luís Catela Nunes,Katrin Õunap,Michel Philippart,Prab Prabhakar,Sarah Risen,Raphael Schiffmann,Calvin Soh,John B.P. Stephenson,Helen Stewart,Jon Stone,John Tolmie,Marjo S. van der Knaap,José Pedro Vieira,Catheline Vilain,Emma Wakeling,Vanessa Wermenbol,Andrea Whitney,Simon C. Lovell,Stefan Meyer,Stefan Meyer,John H. Livingston,Gabriela M. Baerlocher,Graeme C.M. Black,Gillian I. Rice,Yanick J. Crow +66 more
TL;DR: Coats plus results from mutations in CTC1, encoding conserved telomere maintenance component 1, a member of the mammalian homolog of the yeast heterotrimeric CST telomeric capping complex, stimulating the activity of DNA polymerase-α primase, the only enzyme known to initiate DNA replication in eukaryotic cells.
Journal ArticleDOI
Germline Mutations in SUFU Cause Gorlin Syndrome–Associated Childhood Medulloblastoma and Redefine the Risk Associated With PTCH1 Mutations
Miriam J. Smith,Christian Beetz,Simon G. Williams,Sanjeev S. Bhaskar,James O'Sullivan,Beverley Anderson,Sarah B. Daly,Jill E. Urquhart,Zaynab Bholah,Deemesh Oudit,Edmund Cheesman,Anna Kelsey,Martin G. McCabe,William G. Newman,D. Gareth Evans +14 more
TL;DR: It is demonstrated convincing evidence that SUFU mutations can cause classical Gorlin syndrome, and childhood brain magnetic resonance imaging surveillance is justified in SUFU-related, but not PTCH1- related, Gorlin Syndrome.
Journal ArticleDOI
Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas
Miriam J. Smith,James O'Sullivan,Sanjeev S. Bhaskar,Kristen D. Hadfield,Gemma Poke,John Caird,Saba Sharif,Diana Eccles,David R. FitzPatrick,Daniel Rawluk,Daniel du Plessis,William G. Newman,D. Gareth Evans +12 more
TL;DR: These findings identify multiple-spinal-meningioma disease as a new discrete entity and establish a key role for the SWI/SNF complex in the pathogenesis of both meningiomas and tumors with clear-cell histology.