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Papers共 25 篇Author StatisticsCo-AuthorSimilar Experts

By YearBy Citation主题筛选期刊级别筛选合作者筛选合作机构筛选
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Biallelic CACNA1A Variants: Review of Literature and Report of a Child with Drug-Resistant Epilepsy and Developmental Delay
Vivien M. Y. Wong-Spracklen, Anna Kolesnik,Josefine Eck, Saras Sabanathan,Olivera Spasic-Boskovic,Anna Maw,Kate Baker
AMERICAN JOURNAL OF MEDICAL GENETICS PART Ano. 11 (2022): 3306-3311
Cited5Views0WOSBibtex
5
0
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report
Damian Smedley,Katherine R. Smith, Antonio Martin,Ellen A. Thomas,Ellen M. McDonagh,Valentina Cipriani,Jamie M. Ellingford,Gavin Arno,Arianna Tucci,Jana Vandrovcova,Georgia Chan,Hywel J. Williams,Thiloka Ratnaike, Wei,Kathleen Stirrups,Kristina Ibanez,Loukas Moutsianas,Matthias Wielscher,Anna Need,Michael R. Barnes,Letizia Vestito,James Buchanan,Sarah Wordsworth,Sofie Ashford, Karola Rehmstrom, Emily Li,Gavin Fuller,Philip Twiss,Olivera Spasic-Boskovic,Sally Halsall,R. Andres Floto,Kenneth Poole, Annette Wagner,Sarju G. Mehta,Mark Gurnell,Nigel Burrows,Roger James,Christopher Penkett,Eleanor Dewhurst,Stefan Graf,Rutendo Mapeta, Mary Kasanicki,Andrea Haworth,Helen Savage,Melanie Babcock,Martin G. Reese,Mark Bale,Emma Baple,Christopher Boustred,Helen Brittain,Anna de Burca,Marta Bleda,Andrew Devereau,Dina Halai, Eik Haraldsdottir,Zerin Hyder,Dalia Kasperaviciute,Christine Patch,Dimitris Polychronopoulos,Angela Matchan,Razvan Sultana,Mina Ryten,Ana L. T. Tavares,Carolyn Tregidgo,Clare Turnbull, Matthew Welland,Suzanne Wood,Catherine Snow,Eleanor Williams,Sarah Leigh,Rebecca E. Foulger,Louise C. Daugherty,Olivia Niblock,Ivone U. S. Leong,Caroline F. Wright,Jim Davies,Charles Crichton,James Welch,Kerrie Woods,Lara Abulhoul,Paul Aurora,Detlef Bockenhauer,Alexander Broomfield,Maureen A. Cleary,Tanya Lam,Mehul Dattani,Emma Footitt,Vijeya Ganesan,Stephanie Grunewald,Sandrine Compeyrot-Lacassagne,Francesco Muntoni,Clarissa Pilkington,Rosaline Quinlivan,Nikhil Thapar,Colin Wallis,Lucy R. Wedderburn,Austen Worth,Teofila Bueser,Cecilia Compton,Charu Deshpande,Hiva Fassihi, Eshika Haque,Louise Izatt,Dragana Josifova,Shehla Mohammed,Leema Robert, Sarah Rose,Deborah Ruddy,Robert Sarkany, Genevieve Say,Adam C. Shaw, Agata Wolejko, Bishoy Habib,Gavin Burns, Sarah Hunter,Russell J. Grocock,Sean J. Humphray,Peter N. Robinson,Melissa Haendel,Michael A. Simpson,Siddharth Banka,Jill Clayton-Smith,Sofia Douzgou,Georgina Hall,Huw B. Thomas,Raymond T. O'Keefe,Michel Michaelides,Anthony T. Moore, Sam Malka,Nikolas Pontikos,Andrew C. Browning,Volker Straub,Grainne S. Gorman,Rita Horvath,Richard Quinton,Andrew M. Schaefer,Patrick Yu-Wai-Man,Doug M. Turnbull,Robert McFarland,Robert W. Taylor,Emer O'Connor,Janice Yip, Katrina Newland,Huw R. Morris,James Polke,Nicholas W. Wood,Carolyn Campbell,Carme Camps,Kate Gibson,Nils Koelling,Tracy Lester,Andrea H. Nemeth,Claire Palles,Noemi B. A. Roy,Arjune Sen,John Taylor,Pilar Cacheiro,Julius O. Jacobsen,Eleanor G. Seaby,Val Davison,Lyn Chitty,Angela Douglas,Kikkeri Naresh,Dom McMullan,Sian Ellard,I. Karen Temple,Andrew D. Mumford,Gill Wilson,Phil Beales,Maria Bitner-Glindzicz,Graeme Black,John R. Bradley,Paul Brennan,John Burn,Patrick F. Chinnery,Perry Elliott,Frances Flinter,Henry Houlden,Melita Irving,William Newman,Shamima Rahman,John A. Sayer,Jenny C. Taylor,Andrew R. Webster,Andrew O. M. Wilkie,Willem H. Ouwehand,F. Lucy Raymond, John Chisholm,Sue Hill,David Bentley,Richard H. Scott,Tom Fowler,Augusto Rendon,Mark Caulfield
New England Journal of Medicine（2021）
Cited401Views0WOSBibtex
401
0
Germline Selection Shapes Human Mitochondrial DNA Diversity
Wei,Salih Tuna,Michael J. Keogh,Katherine R. Smith,Timothy J. Aitman,Phil L. Beales,David L. Bennett,Daniel P. Gale,Maria A. K. Bitner-Glindzicz,Graeme C. Black,Paul Brennan,Perry Elliott,Frances A. Flinter,R. Andres Floto,Henry Houlden,Melita Irving,Ania Koziell,Eamonn R. Maher,Hugh S. Markus,Nicholas W. Morrell,William G. Newman,Irene Roberts,John A. Sayer,Kenneth G. C. Smith,Jenny C. Taylor,Hugh Watkins,Andrew R. Webster,Andrew O. M. Wilkie,Catherine Williamson,Anthony Attwood,Matthew Brown, Naomi Clements Brod, Abigail Crisp-Hihn, John Davis,Sri V. V. Deevi, Eleanor F. Dewhurst, Karen Edwards,Marie Erwood, James Fox, Amy J. Frary,Fengyuan Hu,Jennifer Jolley,Nathalie Kingston,Rachel Linger,Rutendo Mapeta,Jennifer Martin,Stuart Meacham,Sofia Papadia,Paula J. Rayner-Matthews,Crina Samarghitean,Olga Shamardina,Ilenia Simeoni, Simon Staines,Emily Staples,Hannah Stark,Jonathan Stephens, Catherine Titterton,Julie von Ziegenweidt,Christopher Watt,Deborah Whitehorn, Yvette Wood,Katherine Yates, Ping Yu,Roger James,Sofie Ashford,Christopher J. Penkett,Kathleen E. Stirrups,Tadbir Bariana,Claire Lentaigne,Suthesh Sivapalaratnam,Sarah K. Westbury,David J. Allsup,Tamam Bakchoul,Tina Biss,Sara Boyce,Janine Collins,Peter W. Collins,Nicola S. Curry,Kate Downes,Tina Dutt,Wendy N. Erber,Gillian Evans,Tamara Everington,Remi Favier,Keith Gomez,Daniel Greene,Paolo Gresele,Daniel Hart,Rashid Kazmi,Anne M. Kelly,Michele Lambert,Bella Madan,Sarah Mangles,Mary Mathias,Carolyn Millar,Samya Obaji,Kathelijne Peerlinck,Catherine Roughley,Sol Schulman,Marie Scully,Susan E. Shapiro,Keith Sibson,Matthew C. Sims,R. Campbell Tait,Kate Talks,Chantal Thys,Cheng-Hock Toh,Chris Van Geet,John-Paul Westwood,Andrew D. Mumford,Willem H. Ouwehand,Kathleen Freson,Michael A. Laffan,Rhea Y. Y. Tan,Kirsty Harkness,Sarju Mehta,Keith W. Muir,Ahamad Hassan,Matthew Traylor,Anna M. Drazyk,David Parry,Munaza Ahmed,Hanadi Kazkaz,Anthony M. Vandersteen,Elizabeth Ormondroyd,Kate Thomson, Timothy Dent,Rachel J. Buchan,Teofila Bueser,Gerald Carr-White,Stuart Cook,Matthew J. Daniels,Andrew R. Harper,James S. Ware,Peter H. Dixon,Jenny Chambers, Floria Cheng,Maria C. Estiu,William M. Hague,Hanns-Ulrich Marschall,Marta Vazquez-Lopez,Gavin Arno,Courtney E. French,Michel Michaelides,Anthony T. Moore,Alba Sanchis-Juan,Keren Carss,F. Lucy Raymond,Patrick F. Chinnery,Philip Griffiths,Rita Horvath,Gavin Hudson,Neringa Jurkute,Angela Pyle,Patrick Yu-Wai-Man,James Whitworth,Julian Adlard,Ruth Armstrong,Carole Brewer,Ruth Casey,Trevor R. P. Cole,Dafydd Gareth Evans,Lynn Greenhalgh, Helen L. Hanson,Jonathan Hoffman,Louise Izatt,Ajith Kumar,Fiona Lalloo,Kai Ren Ong,Soo-Mi Park,Claire Searle,Lucy Side,Katie Snape,Emma Woodward,Marc Tischkowitz,Detelina Grozeva,Manju A. Kurian,Andreas C. Themistocleous,David Gosal,Andrew Marshall,Emma Matthews,Mark I. McCarthy,Tara Renton,Andrew S. C. Rice,Tom Vale,Suellen M. Walker,Christopher Geoffrey Woods,James E. Thaventhiran,Hana Lango Allen,Sinisa Savic,Hana Alachkar,Richard Antrobus,Helen E. Baxendale,Michael J. Browning,Matthew S. Buckland,Nichola Cooper,J. David M. Edgar,William Egner,Kimberly C. Gilmour,Sarah Goddard,Pavels Gordins,Sofia Grigoriadou,Scott Hackett,Rosie Hague,Grant Hayman,Archana Herwadkar,Aarnoud P. Huissoon,Stephen Jolles,Peter Kelleher,Dinakantha Kumararatne,Hilary Longhurst, Lorena E. Lorenzo,Paul A. Lyons,Jesmeen Maimaris,Sadia Noorani,Alex Richter,Ravishankar B. Sargur,W. A. Carrock Sewell,David Thomas,Moira J. Thomas,Austen Worth,Patrick F. K. Yong,Taco W. Kuijpers,Adrian J. Thrasher,Adam P. Levine,Omid Sadeghi-Alavijeh,Edwin K. S. Wong,H. Terence Cook,Melanie M. Y. Chan,Matthew Hall,Claire Harris,Paul McAlinden,Kevin J. Marchbank,Stephen Marks,Heather Maxwell,Monika Mozere, Julie Wessels,Sally A. Johnson,Marta Bleda,Charaka Hadinnapola,Matthias Haimel,Emilia Swietlik,Harm Bogaard,Colin Church,Gerry Coghlan,Robin Condliffe,Paul Corris,Cesare Danesino,Melanie Eyries,Henning Gall,Hossein-Ardeschir Ghofrani,J. Simon R. Gibbs,Barbara Girerd,Simon Holden,Arjan Houweling,Luke S. Howard,Marc Humbert,David G. Kiely,Gabor Kovacs,Allan Lawrie,Robert V. MacKenzie Ross,Shahin Moledina,David Montani,Michael Newnham,Andrea Olschewski,Horst Olschewski,Andrew Peacock,Joanna Pepke-Zaba,Laura Scelsi, Werner Seeger,Florent Soubrier,Jay Suntharalingam,Mark Toshner,Carmen Treacy,Richard Trembath,Anton Vonk Noordegraaf,Quinten Waisfisz,John Wharton,Martin R. Wilkins,Stephen J. Wort,Stefan Graf,Eleni Louka, Noemi B. Roy,Anupama Rao,Philip Ancliff,Christian Babbs,D. Mark Layton,Adam J. Mead,Jennifer O'Sullivan,Steven Okoli,Moin Saleem,Agnieszka Bierzynska,Carmen Bugarin Diz,Elizabeth Colby, Melanie N. Ekani,Simon Satchell,Tom Fowler,Augusto Rendon,Richard Scott,Damian Smedley,Ellen Thomas,Mark Caulfield,Stephen Abbs,Nigel Burrows,Manali Chitre,Michael Gattens,Mark Gurnell, Wilf Kelsall, Ken E. S. Poole,Robert Ross-Russell,Olivera Spasic-Boskovic,Philip Twiss, Annette Wagner,Siddharth Banka,Jill Clayton-Smith,Sofia Douzgou,Lara Abulhoul,Paul Aurora,Detlef Bockenhauer,Maureen Cleary,Mehul Dattani, Vijeya Ganesan,Clarissa Pilkington,Shamima Rahman,Neil Shah,Lucy Wedderburn, Cecilia J. Compton,Charu Deshpande,Hiva Fassihi, Eshika Haque,Dragana Josifova,Shehla N. Mohammed,Leema Robert, Sarah J. Rose,Deborah M. Ruddy, Robert N. Sarkany, Genevieve Sayer,Adam C. Shaw,Carolyn Campbell,Kate Gibson,Nils Koelling,Tracy Lester,Andrea H. Nemeth,Claire Palles,Smita Patel,Arjune Sen,John Taylor,Ian P. Tomlinson,Samantha Malka,Andrew C. Browning,John Burn,Anthony De Soyza, Jodie Graham,Simon Pearce,Richard Quinton,Andrew M. Schaefer,Brian T. Wilson,Michael Wright,Michael Simpson,Petros Syrris,John R. Bradley,Ernest Turro
Scienceno. 6442 (2019)
Cited191Views0WOSSCIENCEBibtex
191
0
UK 10 K Consortium
Saeed Al Turki,Antoinette Amuzu,Carl A. Anderson,Richard Anney,Dinu Antony, Soler Artigas, Muhammad Ayub, Senduran Bala,Jeffrey C. Barrett,Inês Barroso,Phil Beales,Marianne Benn,Jamie Bentham,Shoumo Bhattacharya,Ewan Birney,Douglas Blackwood,Martin Bobrow,Elena Bochukova,Patrick F. Bolton,Rebecca Bounds,Chris Boustred,Gerome Breen,Mattia Calissano,Keren Carss,Juan Pablo Casas,John C. Chambers,Ruth Charlton,Krishna Chatterjee,Lu Chen,Antonio Ciampi,Sebahattin Cirak,Peter Clapham,Gail Clement,Guy Coates,Massimiliano Cocca,David A. Collier,Catherine Cosgrove,Tony Cox,Nick Craddock,Lucy Crooks,Sarah Curran,David Curtis,Allan Daly,Ian N. M. Day,Aaron Day-Williams,George Dedoussis,Thomas Down,Yuanping Du,Cornelia M. van Duijn,Ian Dunham,Sarah Edkins,Rosemary Ekong,Peter Ellis, David M. Evans,I. Sadaf Farooqi, R. David, Fitzpatrick,Paul Flicek,James Floyd,A. Reghan Foley,Christopher S. Franklin,Marta Futema, Louise, Gallagher,Paolo Gasparini,Tom R. Gaunt,Matthias Geihs,Daniel Geschwind, Celia, Greenwood,Heather Griffin,Detelina Grozeva,Xiaosen Guo,Xueqin Guo,Hugh Gurling,Deborah Hart,Audrey E. Hendricks,Peter Holmans,Liren Huang,Tim Hubbard,Steve E. Humphries,Matthew E. Hurles,Pirro Hysi,Valentina Iotchkova,Aaron Isaacs,David K. Jackson,Yalda Jamshidi, Jon Johnson,Chris Joyce,Konrad J. Karczewski,Jane Kaye,Thomas Keane,John P. Kemp,Karen Kennedy,Alastair Kent,Julia Keogh, Farrah Khawaja,Marcus E. Kleber,Margriet van Kogelenberg,Anja Kolb-Kokocinski,Genevieve Lachance,Claudia Langenberg,Cordelia Langford,Daniel Lawson,Irene Lee,Elisabeth M. van Leeuwen,Monkol Lek, Rui Li,Jieqin Liang, Hong Lin,Ryan Liu,Jouko Lönnqvist,Luis R. Lopes,Margarida Lopes,Daniel G. MacArthur,Massimo Mangino,Gaëlle Marenne,Winfried März,John Maslen,Angela Matchan,Iain Mathieson, Peter McGuffin,Andrew M. McIntosh,Andrew G. McKechanie,Andrew McQuillin,Sarah Metrustry,Nicola Migone,Hannah M. Mitchison,Alireza Moayyeri,James Morris,Richard Morris,Dawn Muddyman,Francesco Muntoni,Børge G. Nordestgaard,Kate Northstone,Michael C. O’Donovan,Stephen O’Rahilly,Alexandros Onoufriadis,Karim Oualkacha,Michael J. Owen,Aarno Palotie,Kalliope Panoutsopoulou,Victoria Parker,Jeremy R. Parr,Lavinia Paternoster,Tiina Paunio,Felicity Payne,Stewart J. Payne,John R. B. Perry,Olli Pietilainen,Vincent Plagnol,Rebecca C. Pollitt,Sue Povey,Michael A. Quail,Lydia Quaye,Lucy Raymond,Karola Rehnström, Cheryl K. Ridout,Graham R. S. Ritchie,Nicola Roberts,Rachel L. Robinson,David B. Savage,Peter Scambler,Stephan Schiffels,Miriam Schmidts,Nadia Schoenmakers,Richard H. Scott,Robert A. Scott,Robert K. Semple,Eva Serra,Sally I. Sharp, Adam Shaw,Hashem A. Shihab,So-Youn Shin,David Skuse,Kerrin S. Small,Carol Smee,George Davey Smith,Lorraine Southam,Olivera Spasic-Boskovic,Timothy D. Spector,David St Clair,Beate St Pourcain,Jim Stalker,Elizabeth Stevens,Jianping Sun,Gabriela Surdulescu,Jaana Suvisaari,Petros Syrris,Ioanna Tachmazidou,Rohan Taylor, Jing Tian,Martin D. Tobin,Daniela Toniolo,Michela Traglia,Anne Tybjaerg-Hansen,Ana M. Valdes,Anthony M. Vandersteen,Anette Varbo,Parthiban Vijayarangakannan,Peter M. Visscher,Louise V. Wain,James T. R. Walters,Guangbiao Wang, Jun Wang, Yu Wang,Kirsten Ward,Eleanor Wheeler,Peter Whincup,Tamieka Whyte,Hywel J. Williams,Kathleen A. Williamson, Crispian Wilson,Scott G. Wilson,Kim Wong,ChangJiang Xu, Jian Yang,Gianluigi Zaza,Eleftheria Zeggini, Feng Zhang,Pingbo Zhang,Weihua Zhang
semanticscholar（2019）
Cited0Views0Bibtex
0
0
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Author Statistics

#Papers: 25

#Citation: 1311

H-Index: 9

G-Index: 13

Sociability: 7

Diversity: 2

Activity: 10

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