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Adriana S. Albuquerque,Jesmeen Maimaris, Alexander J McKenna,Jonathan Lambourne,Fernando Moreira,Sarita Workman,Karyn Mégy,Ilenia Simeoni,Hana Lango Allen, Zoe Adhya,Hana Alachkar, Ariharan Anantharachagan, Richard Antrobus, Gururaj Arumugakani, Chiara Bacchelli,Helen Baxendale,Claire Bethune,Shahnaz Bibi, Barbara Boardman,Claire Booth, Michael Browning, Mary Brownlie,Siobhan O. Burns, Anita Chandra, Hayley Clifford,Nichola Cooper,Sophie Davies,John Dempster,Lisa Devlin, Rainer Döffinger,Elizabeth Drewe,David Edgar,William Egner,Tariq El‐Shanawany,Bobby Gaspar, Rohit Ghurye,Kimberly C. Gilmour,Sarah Goddard, Pavel Gordins,Sofia Grigoriadou,Scott Hackett,Rosie Hague,Lorraine Harper, G. Thomas Hayman,Archana Herwadkar,Stephen Hughes,Aarnoud Huissoon,Stephen Jolles,Julie R. Jones,Peter Kelleher,Nigel Klein, Taco W. Kuijpers, Dinakantha Kumararatne, James Laffan,Sara Lear,Hilary Longhurst,Lorena Lorenzo,Ania Manson,Elizabeth McDermott, Hazel Millar, Anoop Mistry, Valerie Morrisson,Sai Murng, Iman Nasir,Sergey Nejentsev,Sadia Noorani,Éric Oksenhendler,Mark Ponsford,Waseem Qasim, Ellie Quinn,Isabella Quinti,Alexander Richter,Crina Samarghitean,Ravishankar Sargur,Sinisa Savic, Suranjith L. Seneviratne, Carrock Sewall,Fiona Shackley,Kenneth Smith, Emily Staples,Hans J. Stauss,Cathal Steele,James Thaventhiran,Moira Thomas,Adrian J. Thrasher, Stephen R. Welch,Lisa Willcocks,Austen Worth, Nigel Yeatman, Patrick Yong,Sofie Ashford,John S. Bradley, Debra Fletcher, Tracey Hammerton, Roger James,Nathalie Kingston,Willem H. Ouwehand,Christopher Penkett,F. Lucy Raymond,Kathleen Stirrups, Marijke Veltman, Timothy M. Young,Matthew Brown, Naomi Clements-Brod, John M. Davis,Eleanor Dewhurst,Marie Erwood,Amy Frary,Rachel Linger,Jennifer Martin,Sofia Papadia, Karola Rehnström,William Astle,Antony Attwood,Marta Bleda,Keren Carss,Louise Daugherty,Sri V. V. Deevi,Stefan Gräf,Daniel Greene, Csaba Halmagyi,Matthias Haimel,Fengyuan Hu, Vera Matser,Stuart Meacham,Olga Shamardina, Catherine Titterton,Salih Tuna,Ernest Turro, Ping Yu, Julie von Ziegenweldt, Abigail Furnell,Rutendo Mapeta, Simon Staines, Jonathan Stephens,Deborah Whitehorn,Paula Rayner-Matthews, C. Ian F. Watt,Emma Morris
Alba Sanchis-Juan,Karyn Megy,Jonathan Stephens, Camila Armirola Ricaurte,Eleanor Dewhurst,Kayyi Low,Courtney E. French,Detelina Grozeva,Kathleen Stirrups,Marie Erwood,Amy McTague,Christopher J. Penkett,Olga Shamardina,Salih Tuna,Louise C. Daugherty,Nicholas Gleadall,Sofia T. Duarte,Antonio Hedrera-Fernandez,Julie Vogt,Gautam Ambegaonkar,Manali Chitre,Dragana Josifova,Manju A. Kurian,Alasdair Parker,Julia Rankin,Evan Reid,Emma Wakeling,Evangeline Wassmer,F. Lucy Raymond,Keren J. Carss
AMERICAN JOURNAL OF HUMAN GENETICSno. 8 (2023): 1343-1355
Nicole A Vasilevsky,Nicolas A Matentzoglu,Sabrina Toro, Joseph E Flack,Harshad Hegde,Deepak R Unni,Gioconda F Alyea,Joanna S Amberger,Larry Babb,James P Balhoff, Taylor I Bingaman,Gully A Burns,Orion J Buske,Tiffany J Callahan,Leigh C Carmody, Paula Carrio Cordo,Lauren E Chan, George S Chang, Sean L Christiaens,Louise C Daugherty,Michel Dumontier,Laura E Failla,May J Flowers, H. Alpha Garrett,Jennifer L Goldstein,Dylan Gration,Tudor Groza,Marc Hanauer,Nomi L Harris,Jason A Hilton,Daniel S Himmelstein,Charles Tapley Hoyt,Megan S Kane,Sebastian Köhler,David Lagorce,Abbe Lai,Martin Larralde,Antonia Lock, Irene López Santiago,Donna R Maglott,Adriana J Malheiro,Birgit H M Meldal,Monica C Munoz-Torres,Tristan H Nelson,Frank W Nicholas,David Ochoa, Daniel P Olson,Tudor I Oprea,David Osumi-Sutherland,Helen Parkinson,Zoë May Pendlington,Ana Rath,Heidi L Rehm,Lyubov Remennik,Erin R Riggs,Paola Roncaglia,Justyne E Ross, Marion F Shadbolt,Kent A Shefchek,Morgan N Similuk,Nicholas Sioutos,Damian Smedley,Rachel Sparks,Ray Stefancsik,Ralf Stephan, Andrea L Storm,Doron Stupp,Gregory S Stupp,Jagadish Chandrabose Sundaramurthi,Imke Tammen, Darin Tay,Courtney L Thaxton,Eloise Valasek,Jordi Valls-Margarit,Alex H Wagner,Danielle Welter,Patricia L Whetzel,Lori L Whiteman,Valerie Wood,Colleen H Xu,Andreas Zankl,Xingmin Aaron Zhang,Christopher G Chute,Peter N Robinson,Christopher J Mungall,Ada Hamosh,Melissa A Haendel
medRxiv (2022)
Marina T. DiStefano,Scott Goehringer,Lawrence Babb,Fowzan S. Alkuraya,Joanna Amberger,Mutaz Amin,Christina Austin-Tse,Marie Balzotti,Jonathan S. Berg,Ewan Birney,Carol Bocchini,Elspeth A. Bruford,Alison J. Coffey,Heather Collins,Fiona Cunningham,Louise C. Daugherty,Yaron Einhorn,Helen Firth,David R. Fitzpatrick,Rebecca E. Foulger,Jennifer Goldstein,Ada Hamosh,Matthew R. Hurles,Sarah E. Leigh,Ivone U. S. Leong,Sateesh Maddirevula,Christa L. Martin,Ellen M. McDonagh,Annie Olry,Arina Puzriakova,Kelly Radtke,Erin M. Ramos,Ana Rath,Erin Rooney Riggs,Angharad M. Roberts,Charlotte Rodwell,Catherine Snow,Zornitza Stark,Jackie Tahiliani,Susan Tweedie,James S. Ware,Phillip Weller,Eleanor Williams,Caroline F. Wright,Thabo Michael Yates,Heidi L. Rehm
Kristina Ibanez,James Polke,R. Tanner Hagelstrom,Egor Dolzhenko,Dorota Pasko,Ellen Rachel Amy Thomas,Louise C. Daugherty,Dalia Kasperaviciute,Katherine R. Smith,Zandra C. Deans,Sue Hill,Tom Fowler,Richard H. Scott,John Hardy,Patrick F. Chinnery,Henry Houlden,Augusto Rendon,Mark J. Caulfield,Michael A. Eberle,Ryan J. Taft,Arianna Tucci
LANCET NEUROLOGYno. 3 (2022): 234-245
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
Zornitza Stark,Rebecca E Foulger,Eleanor Williams,Bryony A Thompson,Chirag Patel,Sebastian Lunke,Catherine Snow,Ivone U S Leong,Arina Puzriakova,Louise C Daugherty,Sarah Leigh,Christopher Boustred,Olivia Niblock,Antonio Rueda-Martin,Oleg Gerasimenko,Kevin Savage, William Bellamy,Victor San Kho Lin, Roman Valls,Lavinia Gordon,Helen K Brittain,Ellen R A Thomas,Ana Lisa Taylor Tavares,Meriel McEntagart,Susan M White,Tiong Y Tan,Alison Yeung,Lilian Downie,Ivan Macciocca,Elena Savva,Crystle Lee,Ain Roesley, Paul De Fazio, Jane Deller,Zandra C Deans,Sue L Hill,Mark J Caulfield,Kathryn N North,Richard H Scott,Augusto Rendon,Oliver Hofmann,Ellen M McDonagh
American journal of human geneticsno. 9 (2021): 1551-1557
Kristina Ibanez,James Polke,Tanner Hagelstrom,Egor Dolzhenko,Dorota Pasko,Ellen Thomas,Louise Daugherty,Dalia Kasperaviciute,Ellen M McDonagh,Katherine R Smith,Antonio Rueda Martin,Dimitris Polychronopoulos,Heather Angus-Leppan,Kailash P Bhatia,James E Davison,Richard Festenstein,Pietro Fratta,Paola Giunti,Robin Howard, Laxmi Venkata Prasad Korlipara,Matilde Laurá,Meriel McEntagart,Lara Menzies,Huw Morris,Mary M Reilly,Robert Robinson,Elisabeth Rosser,Francesca Faravelli,Anette Schrag,Jonathan M Schott,Thomas T Warner,Nicholas W Wood,David Bourn, Kelly Eggleton,Robyn Labrum,Philip Twiss,Stephen Abbs,Liana Santos, Ghareesa Almheiri, Isabella Sheikh,Jana Vandrovcova,Christine Patch,Ana Lisa Taylor Tavares,Zerin Hyder,Anna Need,Helen Brittain,Emma Baple,Loukas Moutsianas,Genomics England Research Consortium,Viraj Deshpande,Denise L Perry, Shankar Ajay,Aditi Chawla,Vani Rajan,Kathryn Oprych,Patrick F Chinnery,Angela Douglas,Gill Wilson,Sian Ellard,Karen Temple,Andrew Mumford,Dom McMullan,Kikkeri Naresh,Frances Flinter,Jenny C Taylor,Lynn Greenhalgh,William Newman, Paul Brennan,John A. Sayer,F Lucy Raymond,Lyn S Chitty,Zandra C Deans,Sue Hill,Tom Fowler,Richard Scott,Henry Houlden,Augusto Rendon,Mark J Caulfield,Michael A Eberle,Ryan J Taft,Arianna Tucci
biorxiv（2020）
Joshua Hodgson,Emilia M. Swietlik,Richard M. Salmon,Charaka Hadinnapola,Ivana Nikolic,John Wharton,Jingxu Guo,James Liley,Matthias Haimel,Marta Bleda,Laura Southgate,Rajiv D. Machado,Jennifer M. Martin,Carmen M. Treacy,Katherine Yates,Louise C. Daugherty,Olga Shamardina,Deborah Whitehorn,Simon Holden,Harm J. Bogaard,Colin Church,Gerry Coghlan,Robin Condliffe,Paul A. Corris,Cesare Danesino,Melanie Eyries,Henning Gall,Stefano Ghio,Hossein-Ardeschir Ghofrani,J. Simon R. Gibbs,Barbara Girerd,Arjan C. Houweling,Luke Howard,Marc Humbert,David G. Kiely,Gabor Kovacs,Allan Lawrie,Robert V. MacKenzie Ross,Shahin Moledina,David Montani,Andrea Olschewski,Horst Olschewski,Willem H. Ouwehand,Andrew J. Peacock,Joanna Pepke-Zaba,Inga Prokopenko,Christopher J. Rhodes,Laura Scelsi,Werner Seeger,Florent Soubrier,Jay Suntharalingam,Mark R. Toshner,Richard C. Trembath,Anton Vonk Noordegraaf,Stephen J. Wort,Martin R. Wilkins,Paul B. Yu,Wei Li,Stefan Graef,Paul D. Upton,Nicholas W. Morrell
Antonio Rueda Martin,Eleanor Williams,Rebecca E. Foulger,Sarah Leigh,Louise C. Daugherty,Olivia Niblock,Ivone U. S. Leong,Katherine R. Smith,Oleg Gerasimenko, Eik Haraldsdottir,Ellen Thomas,Richard H. Scott,Emma Baple,Arianna Tucci,Helen Brittain,Anna de Burca,Kristina Ibañez,Dalia Kasperaviciute,Damian Smedley,Mark Caulfield,Augusto Rendon,Ellen M. McDonagh
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