Ellen M. McDonagh - Dissemin

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All papers authored by Ellen M. McDonagh

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2024 Ellen M. McDonagh

ORCID

, Gosia Trynka, Mark McCarthy, Emily Rose Holzinger, Shameer Khader, Nikolina Nakic, Xinli Hu, Helena Cornu, Ian Dunham, David Hulcoop

Human Genetics and Genomics for Drug Target Identification and Prioritization: Open Targets’ Perspective

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Santosh Tirunagari, Shyamasree Saha, Aravind Venkatesan, Daniel Suveges, Annalisa Buniello, David Ochoa, Johanna McEntyre, Ellen McDonagh

ORCID

, Melissa Harrison

Lit-OTAR Framework for Extracting Biological Evidences from Literature

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Lauren Jeffries, Emily K. Mis, Kirsty McWalter, Sandra Donkervoort, Nina N. Brodsky, Jean-Marie Carpier, Weizhen Ji, Cristian Ionita, Bhaskar Roy, Jon S. Morrow, Armine Darbinyan, Krishna Iyer, Ritu B. Aul, Siddharth Banka, Katherine R. Chao and 626 other authors

Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

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Angharad M. Roberts

ORCID

, Marina T. DiStefano, Erin Rooney Riggs, Katherine S. Josephs, Fowzan S. Alkuraya, Joanna Amberger, Mutaz Amin, Jonathan S. Berg, Fiona Cunningham, Karen Eilbeck, Helen V. Firth, Julia Foreman, Ada Hamosh, Eleanor Hay, Sarah Leigh and 11 other authors

Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships—allelic requirement, inheritance modes, and disease mechanisms

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2023 Matthew Thakur

ORCID

, Annalisa Buniello

ORCID

, Catherine Brooksbank, Kim T. Gurwitz, Matthew Hall, Matthew Hartley, David G. Hulcoop, Andrew R. Leach, Diana Marques

ORCID

, Maria Martin, Aziz Mithani, Ellen M. McDonagh

ORCID

, Euphemia Mutasa-Gottgens, David Ochoa

ORCID

, Yasset Perez-Riverol

ORCID

and 6 other authors

EMBL’s European Bioinformatics Institute (EMBL-EBI) in 2023

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Polina V. Rusina, Maria J. Falaguera, Juan Maria R. Romero, Ellen M. McDonagh

ORCID

, Ian Dunham, David Ochoa

Genetic support for FDA-approved drugs over the past decade

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2022 Matthew Thakur

ORCID

ORCID

, Cath Brooksbank, Mallory Freeberg

ORCID

, Melissa Harrison, Matthew Hartley, Thomas Keane

ORCID

, Gerard Kleywegt, Andrew Leach

ORCID

, Mariia Levchenko

ORCID

, Sarah Morgan, Ellen M. McDonagh

ORCID

, Sandra Orchard

ORCID

, Irene Papatheodorou

ORCID

, Sameer Velankar

ORCID

and 4 other authors

EMBL’s European Bioinformatics Institute (EMBL-EBI) in 2022

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David Ochoa

ORCID

, Andrew Hercules, Miguel Carmona, Daniel Suveges, Jarrod Baker, Cinzia Malangone, Irene Lopez, Alfredo Miranda, Carlos Cruz-Castillo, Luca Fumis, Manuel Bernal-Llinares

ORCID

, Kirill Tsukanov

ORCID

, Helena Cornu, Konstantinos Tsirigos, Olesya Razuvayevskaya and 19 other authors

The next-generation Open Targets Platform: reimagined, redesigned, rebuilt

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Marina T. DiStefano

ORCID

, 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 and 37 other authors

The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources

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David Ochoa, Mohd Karim, Maya Ghoussaini, David G. Hulcoop, Ellen M. McDonagh

ORCID

, Ian Dunham

Human genetics evidence supports two-thirds of the 2021 FDA-approved drugs

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Kristina Ibañez, 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 and 123 other authors

Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

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2021 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 and 27 other authors

Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution

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Mohd Anisul

ORCID

, Mohd A. Karim, Karim Ma, Jarrod Shilts, Jeremy Schwartzentruber, James Hayhurst, Elmutaz Shaikho Elhaj Mohammed, Annalisa Buniello, Elmutaz Shaikho Elhaj Mohammed, Michael V. Holmes, Mohammed Ese, Jie Zheng

ORCID

, Holmes Mv, David Ochoa

ORCID

, Miguel Carmona and 9 other authors

A proteome-wide genetic investigation identifies several SARS-CoV-2-exploited host targets of clinical relevance

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David A. Parry, Carol-Anne Martin, Philip Greene, Joseph A. Marsh, J. C. Ambrose, P. Arumugam, E. L. Baple, M. Bleda, F. Boardman-Pretty, J. M. Boissiere, C. R. Boustred, H. Brittain, M. J. Caulfield, G. C. Chan, C. E. H. Craig and 82 other authors

Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy

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This paper is made freely available by the publisher.

2020 Anjali Vig, James A. Poulter, Daniele Ottaviani, Erika Tavares, Katerina Toropova, Anna Maria Tracewska, Antonio Mollica, Jasmine Kang, Oshini Kehelwathugoda, Tara Paton, Jason T. Maynes, Gabrielle Wheway, Gavin Arno, J. C. Ambrose, P. Arumugam and 89 other authors

DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration

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Gaia Cantelli

ORCID

ORCID

, Cath Brooksbank, Ellen McDonagh

ORCID

ORCID

, Johanna McEntyre, Ewan Birney, Rolf Apweiler

The European Bioinformatics Institute: empowering cooperation in response to a global health crisis

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David Ochoa

ORCID

, Andrew Hercules, Miguel Carmona, Daniel Suveges, Asier Gonzalez-Uriarte, Cinzia Malangone, Alfredo Miranda, Luca Fumis, Denise Carvalho-Silva

ORCID

, Michaela Spitzer, Jarrod Baker, Javier Ferrer, Arwa Raies, Olesya Razuvayevskaya, Adam Faulconbridge and 17 other authors

Open Targets Platform: supporting systematic drug–target identification and prioritisation

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Maya Ghoussaini, Edward Mountjoy, Miguel Carmona, Gareth Peat, Ellen M. Schmidt, Andrew Hercules, Luca Fumis, Alfredo Miranda, Denise Carvalho-Silva

ORCID

, Annalisa Buniello

ORCID

ORCID

, James Hayhurst, Jarrod Baker, Javier Ferrer, Asier Gonzalez-Uriarte and 20 other authors

Open Targets Genetics: systematic identification of trait-associated genes using large-scale genetics and functional genomics

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Dara Tolchin, Jessica P. Yeager, Priya Prasad, Naghmeh Dorrani, Alvaro Serrano Russi, Julian A. Martinez-Agosto, Abdul Haseeb, Marco Angelozzi, G. W. E. Santen, Claudia Ruivenkamp, Saadet Mercimek-Andrews, Christel Depienne, Alma Kuechler, Barbara Mikat, Hermann-Josef Ludecke and 104 other authors

De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas

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Ramita Dewan

ORCID

ORCID

, Jinhui Ding, Richard A. Hickman

ORCID

, Thor D. Stein, Yevgeniya Abramzon, Sarah Ahmed

ORCID

, Marya S. Sabir, Makayla K. Portley, F. N. U. Shankaracharya, Arianna Tucci, Kristina Ibáñez, Giacomina Rossi, Pamela Keagle, Paola Caroppo and 452 other authors

Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

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