O
Olga Shamardina
Researcher at University of Cambridge
Publications - 18
Citations - 1460
Olga Shamardina is an academic researcher from University of Cambridge. The author has contributed to research in topics: BMPR2 & Gene. The author has an hindex of 10, co-authored 17 publications receiving 788 citations. Previous affiliations of Olga Shamardina include Cambridge University Hospitals NHS Foundation Trust & NHS Blood and Transplant.
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Journal ArticleDOI
Whole-genome sequencing of patients with rare diseases in a national health system.
Ernest Turro,William J. Astle,William J. Astle,Karyn Megy,Stefan Gräf,Daniel Greene,Olga Shamardina,Hana Lango Allen,Alba Sanchis-Juan,Mattia Frontini,Mattia Frontini,Mattia Frontini,Chantal Thys,Jonathan Stephens,Rutendo Mapeta,Oliver S. Burren,Kate Downes,Matthias Haimel,Salih Tuna,Deevi Svv.,Timothy J. Aitman,Timothy J. Aitman,David L.H. Bennett,David L.H. Bennett,P Calleja,Keren J. Carss,Mark J. Caulfield,Patrick F. Chinnery,Peter H. Dixon,Daniel P. Gale,Rachael H. James,Ania Koziell,Ania Koziell,Michael Laffan,Michael Laffan,Adam P. Levine,Eamonn R. Maher,Hugh S. Markus,Joannella Morales,Nicholas W. Morrell,Andrew D Mumford,Andrew D Mumford,Elizabeth Ormondroyd,S Rankin,Augusto Rendon,Sylvia Richardson,Irene Roberts,Roy Nba.,M A Saleem,M A Saleem,Smith Kgc.,Hannah Stark,Tan Ryy.,Andreas C. Themistocleous,Adrian J. Thrasher,Hugh Watkins,Andrew R. Webster,Andrew R. Webster,Martin R. Wilkins,Catherine Williamson,Catherine Williamson,James A. G. Whitworth,Sean Humphray,David R. Bentley,Nathalie Kingston,Neil Walker,John Bradley,Sofie Ashford,Christopher J. Penkett,Kathleen Freson,Kathleen Stirrups,F. Lucy Raymond,Willem H. Ouwehand +72 more
TL;DR: This study used whole-genome sequencing in a national health system to streamline diagnosis and to discover unknown aetiological variants in the coding and non-coding regions of the genome, finding that rare alleles can explain the presence of some individuals in the tails of a quantitative trait for red blood cells.
Journal ArticleDOI
Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.
Stefan Gräf,Matthias Haimel,Marta Bleda,Charaka Hadinnapola,Laura Southgate,Laura Southgate,Wei Li,Joshua Hodgson,Bin Liu,Richard M. Salmon,Mark Southwood,Rajiv D. Machado,Jennifer M. Martin,Carmen M. Treacy,Carmen M. Treacy,Katherine Yates,Louise C. Daugherty,Olga Shamardina,Deborah Whitehorn,Simon Holden,Micheala A. Aldred,Harm Jan Bogaard,Colin Church,Gerry Coghlan,Robin Condliffe,Paul A. Corris,Cesare Danesino,Mélanie Eyries,Henning Gall,Stefano Ghio,Hossein Ardeschir Ghofrani,Hossein Ardeschir Ghofrani,J. Simon R. Gibbs,Barbara Girerd,Arjan C. Houweling,Luke S. Howard,Marc Humbert,David G. Kiely,Gabor G. Kovacs,Robert V. MacKenzie Ross,Shahin Moledina,David Montani,Michael Newnham,Andrea Olschewski,Horst Olschewski,Andrew J. Peacock,Joanna Pepke-Zaba,Inga Prokopenko,Christopher J. Rhodes,Laura Scelsi,Werner Seeger,Florent Soubrier,Dan F. Stein,Jay Suntharalingam,Emilia M. Swietlik,Mark Toshner,David A. van Heel,Anton Vonk Noordegraaf,Quinten Waisfisz,John Wharton,Stephen J. Wort,Willem H. Ouwehand,Nicole Soranzo,Nicole Soranzo,Allan Lawrie,Paul D. Upton,Martin R. Wilkins,Richard C. Trembath,Nicholas W. Morrell +68 more
TL;DR: In this paper, the authors performed whole-genome sequencing in 1038 pulmonary arterial hypertension (PAH) index cases and 6385 PAH-negative control subjects to identify the missing heritability.
Journal ArticleDOI
Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children
Courtney E. French,Isabelle Delon,Helen Dolling,Alba Sanchis-Juan,Olga Shamardina,Karyn Megy,Stephen Abbs,Topun Austin,Sarah Bowdin,Ricardo Garcia Branco,Ricardo Garcia Branco,Ricardo Garcia Branco,Helen V. Firth,Next Generation Children Project,Next Generation Children Project,David H. Rowitch,F Lucy Raymond,F Lucy Raymond +17 more
TL;DR: A gene agnostic approach was effective in identifying an underlying genetic condition, with phenotypes and symptomatology being primarily used for data interpretation rather than gene selection, and WGS analysis has the potential to be a first-line diagnostic tool for a subset of intensively ill children.
Journal ArticleDOI
Whole-genome sequencing of patients with rare diseases in a national health system
Ernest Turro,William J. Astle,Karyn Megy,Stefan Gräf,Daniel Greene,Olga Shamardina,Hana Lango Allen,Alba Sanchis-Juan,Mattia Frontini,Chantal Thys,Jonathan Stephens,Rutendo Mapeta,Oliver S. Burren,Kate Downes,Matthias Haimel,Salih Tuna,Sri V V Deevi,Timothy J. Aitman,David L.H. Bennett,Paul Calleja,Keren J. Carss,Mark J. Caulfield,Patrick F. Chinnery,Peter H. Dixon,Daniel P. Gale,Roger James,Ania Koziell,Michael Laffan,Adam P. Levine,Eamonn R. Maher,Hugh S. Markus,Joannella Morales,Nicholas W. Morrell,Andrew D Mumford,Elizabeth Ormondroyd,Stuart Rankin,Augusto Rendon,Sylvia Richardson,Irene Roberts,Noemi B A Roy,Moin A Saleem,Kenneth G. C. Smith,Hannah Stark,Rhea Y. Y. Tan,Andreas C. Themistocleous,Adrian J. Thrasher,Hugh Watkins,Andrew R. Webster,Martin R. Wilkins,Catherine Williamson,James Whitworth,Sean Humphray,David R. Bentley,Nathalie Kingston,Neil Walker,John Bradley,Sofie Ashford,Christopher J. Penkett,Kathleen Freson,Kathleen Stirrups,F. Lucy Raymond,Willem H. Ouwehand +61 more
Journal ArticleDOI
Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans
Paul Tuijnenburg,Hana Lango Allen,Hana Lango Allen,Siobhan O. Burns,Daniel Greene,Daniel Greene,Machiel H. Jansen,Emily Staples,Jonathan Stephens,Jonathan Stephens,Keren J. Carss,Keren J. Carss,Daniele Biasci,Helen Baxendale,Moira Thomas,Anita Chandra,Sorena Kiani-Alikhan,Hilary Longhurst,Suranjith L. Seneviratne,Eric Oksenhendler,Ilenia Simeoni,Godelieve J. de Bree,Anton T.J. Tool,Ester M. M. van Leeuwen,Eduard H T M Ebberink,Alexander B. Meijer,Salih Tuna,Salih Tuna,Deborah Whitehorn,Deborah Whitehorn,Matthew A. Brown,Matthew A. Brown,Ernest Turro,Ernest Turro,Adrian J. Thrasher,Kenneth G. C. Smith,James Ed Thaventhiran,Taco W. Kuijpers,Zoe Adhya,Hana Alachkar,Ariharan Anantharachagan,Richard Antrobus,Gururaj Arumugakani,Chiara Bacchelli,Claire Bethune,Shahnaz Bibi,Barbara Boardman,Claire Booth,Michael J. Browning,Mary Brownlie,Siobhan Burns,Hayley Clifford,Nichola Cooper,Sophie Davies,John Dempster,Lisa Devlin,Rainer Doffinger,Elizabeth Drewe,David Edgar,William Egner,Tariq El-Shanawany,Bobby Gaspar,Rohit Ghurye,Kimberley Gilmour,Sarah Goddard,Pavel Gordins,Sofia Grigoriadou,Scott Hackett,Rosie Hague,Lorraine Harper,Grant Hayman,A Herwadkar,Stephen M. Hughes,Aarnoud Huissoon,Stephen Jolles,Julie Jones,Peter Kelleher,Nigel Klein,Taco W. Kuijpers,Dinakantha S. Kumararatne,James Laffan,Sara Lear,Hilary Longhurst,Lorena Lorenzo,Jesmeen Maimaris,Ania Manson,Elizabeth M. McDermott,Hazel Millar,Anoop Mistry,Valerie Morrisson,Sai Murng,Iman Nasir,Sergey Nejentsev,Sadia Noorani,Mark J. Ponsford,Waseem Qasim,Ellen Quinn,Isabella Quinti,Alex G. Richter,Crina Samarghitean,Ravishankar Sargur,Sinisa Savic,Suranjith L. Seneviratne,Carrock Sewall,Fiona Shackley,Hans J. Stauss,Cathal Laurence Steele,James Thaventhiran,Adrian J. Thrasher,Steve Welch,Lisa C. Willcocks,Sarita Workman,Austen Worth,Nigel Yeatman,Patrick F.K. Yong,Sofie Ashford,John Bradley,Debra Fletcher,Tracey Hammerton,Roger James,Nathalie Kingston,Willem H. Ouwehand,Christopher J. Penkett,F. Lucy Raymond,Kathleen Stirrups,Marijke Veltman,Tim Young,Naomi Clements-Brod,John Davis,Eleanor Dewhurst,Marie Erwood,Amy Frary,Rachel Linger,Jennifer M. Martin,Sofia Papadia,Karola Rehnstrom,William J. Astle,Antony P. Attwood,Marta Bleda,Keren J. Carss,Louise C. Daugherty,Sri V V Deevi,Stefan Gräf,Csaba Halmagyi,Matthias Haimel,Fengyuan Hu,Vera Matser,Stuart Meacham,Karyn Megy,Olga Shamardina,Catherine Titterton,Ping Yu,Julie von Ziegenweldt,Abigail Furnell,Rutendo Mapeta,Simon Staines,Paula Rayner-Matthews,Christopher Watt +157 more
TL;DR: It is shown that heterozygous loss‐of‐function variants in NFKB1 are the most common known monogenic cause of CVID, which results in a temporally progressive defect in the formation of immunoglobulin‐producing B cells.