Richard Scott - Genom England Ltd, Charterhouse Sq

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论文共 23 篇作者统计合作学者相似作者

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Challenges and lessons learned for automated variant interpretation pipelines in clinical whole genome sequencing

Kevin Savage,Susan Walker,Katherine Smith,Antonio Rueda,Javier Lopez,Liam Abrahams,Emma Baple,Smedley Damien,Ellen Thomas,Matt Brown,Richard Scott,Augusto Rendon,Rachael Mein,Zandra Deans,Sue Hill,Mark Caulfield,Dalia Kasperaviciute

EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 593-593

引用0浏览0引用

Analytical validation of gene coverages for Newborns Whole Genome Sequencing Pilot programme

Dasha Deen,Susan Walker, Gabriel Adams,Alex Stuckey,Javier Lopez, Alice Tuff-Lacy,Matt Brown,Richard Scott,Augusto Rendon,David Bick, Dalia Kasperavici

EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 594-594

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Re: Best et al., 'Unlocking the potential of the UK 100,000 Genomes Project - Lessons learned from analysis of the "Congenital malformations caused by ciliopathies" cohort'

Matthew A. Brown,Christopher Wigley,Susan Walker, Deborah Lancaster,Augusto Rendon,Richard Scott

AMERICAN JOURNAL OF MEDICAL GENETICS PART Ano. 11 (2022): 3376-3377

引用0浏览0WOS引用

Pan-ancestry Exome-Wide Association Analyses of COVID-19 Outcomes in 586,157 Individuals

Jack A. Kosmicki,Julie E. Horowitz,Nilanjana Banerjee,Rouel Lanche,Anthony Marcketta,Evan Maxwell,Xiaodong Bai,Dylan Sun,Joshua D. Backman,Deepika Sharma,Fabricio S. P. Kury,Hyun M. Kang,Colm O'Dushlaine,Ashish Yadav,Adam J. Mansfield,Alexander H. Li,Kyoko Watanabe,Lauren Gurski,Shane E. McCarthy,Adam E. Locke,Shareef Khalid,Sean O'Keeffe,Joelle Mbatchou,Olympe Chazara,Yunfeng Huang,Erika Kvikstad,Amanda O'Neill,Paul Nioi, Meg M. Parker,Slave Petrovski,Heiko Runz,Joseph D. Szustakowski,Quanli Wang,Emily Wong,Aldo Cordova-Palomera,Erin N. Smith,Sandor Szalma,Xiuwen Zheng,Sahar Esmaeeli,Justin W. Davis,Yi-Pin Lai,Xing Chen,Anne E. Justice,Joseph B. Leader,Tooraj Mirshahi,David J. Carey,Anurag Verma,Giorgio Sirugo,Marylyn D. Ritchie,Daniel J. Rader,Gundula Povysil,David B. Goldstein,Krzysztof Kiryluk,Erola Pairo-Castineira,Konrad Rawlik,Dorota Pasko,Susan Walker,Alison Meynert,Athanasios Kousathanas,Loukas Moutsianas,Albert Tenesa,Mark Caulfield,Richard Scott,James F. Wilson,J. Kenneth Baillie,Guillaume Butler-Laporte,Tomoko Nakanishi,Mark Lathrop,J. Brent Richards,Marcus Jones,Suganthi Balasubramanian,William Salerno,Alan R. Shuldiner,Jonathan Marchini,John D. Overton,Lukas Habegger,Michael N. Cantor,Jeffrey G. Reid,Aris Baras,Goncalo R. Abecasis,Manuel A. R. Ferreira

The American Journal of Human Genetics（2021）

引用66浏览0WOS引用

Genetic association analysis of SARS-CoV-2 infection in 455,838 UK Biobank participants

Jack A Kosmicki,Julie E Horowitz,Nilanjana Banerjee,Rouel Lanche,Anthony Marcketta,Evan Maxwell,Xiaodong Bai,Dylan Sun,Joshua D Backman,Deepika Sharma,Hyun M Kang,Colm O'Dushlaine,Ashish Yadav,Adam J Mansfield,Alexander H Li,Kyoko Watanabe,Lauren Gurski,Shane E McCarthy,Adam E Locke,Shareef Khalid,Sean O'Keeffe,Joelle Mbatchou,Olympe Chazara,Yunfeng Huang,Erika Kvikstad,Amanda O'Neill,Paul Nioi,Margaret M Parker,Slave Petrovski,Heiko Runz,Joseph Szustakowski,Quanli Wang,Emily Wong,Aldo Cordova-Palomera,Erin Smith,Sandor Szalma,Xiuwen Zheng, Sahar Esmaeli,Justin W Davis,Yi-Pin Lai,Xing Chen,Anne E Justice,Joseph B Leader,Tooraj Mirshahi,David J Carey,Anurag Verma,Marylyn D Ritchie,Giorgio Sirugo,Daniel J. Rader,Gundula Povysil,David B Goldstein,Krzysztof Kiryluk,Erola Pairo-Castineira,Konrad Rawlik,Dorota Pasko,Susan Walker,Alison Meynert,Athanasios Kousathanas,Loukas Moutsianas,Albert Tenesa,Mark Caulfield,Richard Scott,James F Wilson,J Kenneth Baillie,Guillaume Butler-Laporte,Tomoko Nakanishi,Mark Lathrop,J Brent Richards,Marcus Jones,Suganthi Balasubramanian,William Salerno,Alan Shuldiner,Jonathan Marchini,John Overton,Lukas Habegger,Michael Cantor,Jeffrey Reid,Aris Baras,Goncalo R Abecasis,Manuel A Ferreira

user-618b9067e554220b8f259598（2020）

引用13浏览0引用

Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome)

Nurit Assia Batzir,Jennifer E Posey,Xiaofei Song,Zeynep Coban Akdemir,Jill A Rosenfeld,Chester W Brown, Emily Chen,Shannon G Holtrop,Elizabeth Mizerik, Margarita Nieto Moreno,Katelyn Payne,Annick Raas-Rothschild,Richard Scott,Hilary J Vernon,Neda Zadeh,James R Lupski,V Reid Sutton

AMERICAN JOURNAL OF MEDICAL GENETICS PART A（2020）

引用30浏览0WOS引用

ACGS Best Practice Guidelines for Variant Classification in Rare Disease 2020

Sian Ellard,Emma L Baple,Alison Callaway,Ian Berry,Natalie Forrester, Clare, Turnbull,Martina Owens,Diana M Eccles,Stephen Abbs,Richard Scott, C Zandra, Deans,Tracy Lester, Jo Campbell,William G Newman,Simon Ramsden, Dominic, J McMullan

semanticscholar（2020）

引用3浏览0引用

Tarishi Nemani,Dora Steel,Marios Kaliakatsos,Catherine DeVile,Athina Ververi,Richard Scott,Spas Getov,Sniya Sudhakar,Alison Male,Kshitij Mankad,Francesco Muntoni,Mary M. Reilly,Manju A. Kurian,Lucinda Carr,Pinki Munot

Journal of the peripheral nervous system（2020）

引用38浏览0WOS引用

Whole Genome Sequencing for Diagnosis of Neurological Repeat Expansion Disorders

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）

引用1浏览0引用

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