Eleanor Grace Seaby

Research

Research projects

Active projects

H2020 RIA IMI2-rapiD and secuRe AI imaging based diaGnosis, stratification, fOllow-up, and preparedness for coronavirus paNdemics.-DRAGON

Researchers:

Professor Diana Baralle

Professor Ratko Djukanovic ,

Professor Tom Wilkinson ,

Doctor Yihua Wang ,

Doctor Eleanor Seaby

Sponsor: European Union

Publications

38 publications

Page 1 of 4

Prediction of Crohn’s disease stricturing phenotype using a NOD2-derived genomic biomarker

James Ashton,

Guo Cheng,

Imogen S. Stafford ,

M. Kellermann,

Eleanor Seaby,

J.R. Fraser Cummings,

Tracy Coelho,

Akshay Batra,

Nadeem A. Afzal,

R. Mark Beattie,

& Sarah Ennis

, 2022 , Inflammatory Bowel Diseases

DOI: 10.1093/ibd/izac205

Type: article

A novel variant in GATM causes idiopathic renal Fanconi syndrome and predicts progression to end-stage kidney disease

Eleanor Seaby,

Steven Turner,

David J. Bunyan,

Fariba Seyed-Rezai,

Jonathan W. Essex,

Rodney Gilbert,

& Sarah Ennis

, 2022 , Clinical Genetics

DOI: 10.1111/cge.14235

Type: article

Response to Ramos et al

Eleanor Seaby,

Diana Baralle,

Heidi L. Rehm,

Anne O'Donnell-Luria,

& Sarah Ennis

, 2022 , Genetics in Medicine

DOI: 10.1016/j.gim.2022.08.016

Type: article

Rare pathogenic variants in WNK3 cause X-linked intellectual disability

Sébastien Küry,

Jinwei Zhang,

Thomas Besnard,

Alfonso Caro-Llopis,

Xue Zeng,

Stephanie M Robert,

Sunday S Josiah,

Emre Kiziltug,

Anne-Sophie Denommé-Pichon,

Benjamin Cogné,

Adam J Kundishora,

Le T Hao,

Hong Li,

Roger E Stevenson,

Raymond J Louie,

Wallid Deb,

Erin Torti,

Virginie Vignard,

Kirsty McWalter,

F Lucy Raymond,

Farrah Rajabi,

Emmanuelle Ranza,

Detelina Grozeva,

Stephanie A Coury,

Xavier Blanc,

Elise Brischoux-Boucher,

Boris Keren,

Katrin Õunap,

Karit Reinson,

Pilvi Ilves,

Ingrid M Wentzensen,

Eileen E Barr,

Solveig Heide Guihard,

Perrine Charles,

Eleanor G Seaby,

Kristin G Monaghan,

Marlène Rio,

Yolande van Bever,

Marjon van Slegtenhorst,

Wendy K Chung,

Ashley Wilson,

Delphine Quinquis,

Flora Bréhéret,

Kyle Retterer,

Pierre Lindenbaum,

Emmanuel Scalais,

Lindsay Rhodes,

Katrien Stouffs,

Elaine M Pereira,

Sara M Berger,

Sarah S Milla,

Ankita B Jaykumar,

Melanie H Cobb,

Shreyas Panchagnula,

Phan Q Duy,

Marie Vincent,

Sandra Mercier,

Brigitte Gilbert-Dussardier,

Xavier Le Guillou,

Séverine Audebert-Bellanger,

Sylvie Odent,

Sébastien Schmitt,

Pierre Boisseau,

Dominique Bonneau,

Annick Toutain,

Estelle Colin,

Laurent Pasquier,

Richard Redon,

Arjan Bouman,

Jill A Rosenfeld,

Michael J Friez,

Helena Pérez-Peña,

Syed Raza Akhtar Rizvi,

Shozeb Haider,

Stylianos E Antonarakis,

Charles E Schwartz,

Francisco Martínez,

Stéphane Bézieau,

Kristopher T Kahle,

& Bertrand Isidor

, 2022 , Genetics in Medicine , 24 (9) , 1941--1951

DOI: 10.1016/j.gim.2022.05.009

Type: article

Targeting de novo loss of function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project

Eleanor G. Seaby,

N. Simon Thomas,

Amy Webb,

Helen Brittain,

Ana Lisa Taylor Tavares,

Diana Baralle,

Heidi L. Rehm,

Anne O’Donnell-Luria,

& Sarah Ennis

, 2022

DOI: 10.1101/2022.05.18.22275260

Type: other

NOD2 in Crohn’s disease – unfinished business

James Ashton,

Eleanor Seaby,

Robert M Beattie,

& Sarah Ennis

, 2022 , Journal of Crohn's and Colitis

DOI: 10.1093/ecco-jcc/jjac124

Type: article

A gene-to-patient approach uplifts novel disease gene discovery and identifies 18 putative novel disease genes

Eleanor Seaby,

Damian Smedley,

Ana Lisa Taylor Tavares,

Helen Brittain,

Richard H van Jaarsveld,

Diana Baralle,

Heidi L Rehm,

Anne O'Donnell-Luria,

& Sarah Ennis

, 2022 , Genetics in Medicine , 24 (8) , 1697--1707

DOI: 10.1016/j.gim.2022.04.019

Type: article

Erratum: Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans

Sanna Gudmundsson,

Konrad J. Karczewski,

Laurent C. Francioli,

Grace Tiao,

Beryl B. Cummings,

Jessica Alföldi,

Qingbo Wang,

Ryan L. Collins,

Kristen M. Laricchia,

Andrea Ganna,

Daniel P. Birnbaum,

Laura D. Gauthier,

Harrison Brand,

Matthew Solomonson,

Daniel Rhodes,

Moriel Singer-Berk,

Eleina M. England,

Eleanor G. Seaby,

Jack A. Kosmicki,

Raymond K. Walters,

Katherine Tashman,

Yossi Farjoun,

Eric Banks,

Timothy Poterba,

Arcturus Wang,

Cotton Seed,

Nicola Whiffin,

Jessica X. Chong,

Kaitlin E. Samocha,

Emma Pierce-Hoffman,

Zachary Zappala,

Anne H. O'Donnell-Luria,

Eric Vallabh Minikel,

Ben Weisburd,

Monkol Lek,

James S. Ware,

Christopher Vittal,

Irina M. Armean,

Louis Bergelson,

Kristian Cibulskis,

Kristen M. Connolly,

Miguel Covarrubias,

Stacey Donnelly,

Steven Ferriera,

Stacey Gabriel,

Jeff Gentry,

Namrata Gupta,

Thibault Jeandet,

Diane Kaplan,

Christopher Llanwarne,

Ruchi Munshi,

Sam Novod,

Nikelle Petrillo,

David Roazen,

Valentin Ruano-Rubio,

Andrea Saltzman,

Molly Schleicher,

Jose Soto,

Kathleen Tibbetts,

Charlotte Tolonen,

Gordon Wade,

Michael E. Talkowski,

Benjamin M. Neale,

Mark J. Daly,

& Daniel G. MacArthur

, 2021 , Nature , 597 (7874) , E4

DOI: 10.1038/s41586-021-03758-y

Type: article

The 100,000 Genomes Pilot on rare disease diagnosis in healthcare - preliminary report

Damian Smedley,

Katherine R Smith,

Antonio Rueda Martin,

Eleanor Seaby,

& Karen Temple

, 2021 , New England Journal of Medicine , 385 (20) , 1868--1880

DOI: 10.1056/NEJMoa2035790

Type: article

Identification of novel locus associated with coronary artery aneurysms and validation of loci for susceptibility to Kawasaki disease

Clive Hoggart,

Chisato Shimizu,

Rachel Galassini,

Victoria J Wright,

Hannah Shailes,

Evan Bellos,

Jethro A Herberg,

Andrew J Pollard,

Daniel O'Connor,

Shing Wan Choi,

Eleanor G Seaby,

Stephanie Menikou,

Martin Hibberd,

Neneh Sallah,

David Burgner,

Paul Brogan,

Harsita Patel,

Jihoon Kim,

Adriana H Tremoulet,

Eeva Salo,

Diana van Stijn,

Taco Kuijpers,

Jane C Burns,

& Michael Levin

, 2021 , European Journal of Human Genetics , 29 (12) , 1734--1744

DOI: 10.1038/s41431-021-00838-5

Type: article

Doctor Eleanor Seaby

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Research

Research projects

Active projects

Publications