Damian Smedley

ORCID

Publication Activity (10 Years)

Years Active: 2015-2024
Publications (10 Years): 52

Top Venues

Prenatal diagnosis

medRxiv : the preprint server for health sciences

bioRxiv : the preprint server for biology

Disease models & mechanisms

Queen Mary University of London

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Queen Mary University of London Jan 01 2016

United Kingdom

Senior Lecturer :: Clinical Pharmacology

Publications

Michael Henri Duyzend, Pilar Cacheiro, Julius O B Jacobsen, Jessica L Giordano, Harrison Brand, Ronald J Wapner, Michael E Talkowski, Peter Nick Robinson, Damian Smedley
Improving prenatal diagnosis through standards and aggregation. Prenatal diagnosis (2024)
Pilar Cacheiro, Samantha Lawson, Ignatia B Van den Veyver, Gabriel Marengo, David Zocche, Stephen A Murray, Michael Henri Duyzend, Peter Nick Robinson, Damian Smedley
Lethal phenotypes in Mendelian disorders. medRxiv : the preprint server for health sciences (2024)
Michael Henri Duyzend, Pilar Cacheiro, Julius O B Jacobsen, Jessica L Giordano, Harrison Brand, Ronald J Wapner, Michael E Talkowski, Peter Nick Robinson, Damian Smedley
Improving prenatal diagnosis through standards and aggregation. Prenatal diagnosis (2024)
Mehdi Benkirane, Marion Bonhomme, Heba Morsy, Stephanie L Safgren, Cecilia Marelli, Annabelle Chaussenot, Damian Smedley, Valentina Cipriani, Jean-Madeleine de Sainte-Agathe, Can Ding, Lise Larrieu, Letizia Vestito, Henri Margot, Gaetan Lesca, Francis Ramond, Anna Castrioto, David Baux, Jan Verheijen, Emna Sansa, Paola Giunti, Aline Haetty, Anne Bergougnoux, Morgane Pointaux, Olivier Ardouin, Charles Van Goethem, Marie-Claire Vincent, Marios Hadjivassiliou, Mireille Cossée, Tiphaine Rouaud, Oliver Bartsch, William David Freeman, Klaas J Wierenga, Eric W Klee, null null, Jana Vandrovcova, Henry Houlden, Anne Debant, Michel Koenig
De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity. Brain : a journal of neurology (2024)
Pilar Cacheiro, Samantha Lawson, Ignatia B Van den Veyver, Gabriel Marengo, David Zocche, Stephen A Murray, Michael Henri Duyzend, Peter Nick Robinson, Damian Smedley
Lethal phenotypes in Mendelian disorders. medRxiv : the preprint server for health sciences (2024)
Pilar Cacheiro, Samantha Lawson, Ignatia B Van den Veyver, Gabriel Marengo, David Zocche, Stephen A Murray, Michael Henri Duyzend, Peter Nick Robinson, Damian Smedley
Lethal phenotypes in Mendelian disorders. medRxiv : the preprint server for health sciences (2024)
Yasemin Bridges, Vinícius De Souza, Katherina G Cortes, Melissa A Haendel, Nomi L Harris, Daniel R Korn, Nikolaos M Marinakis, Nicolas A Matentzoglu, James Alastair McLaughlin, Christopher John Mungall, David Osumi-Sutherland, Peter Nick Robinson, Damian Smedley, Julius O B Jacobsen
Towards a standard benchmark for variant and gene prioritisation algorithms: PhEval - Phenotypic inference Evaluation framework. bioRxiv : the preprint server for biology (2024)
Yasemin Bridges, Vinícius De Souza, Katherina G Cortes, Melissa A Haendel, Nomi L Harris, Daniel R Korn, Nikolaos M Marinakis, Nicolas A Matentzoglu, James Alastair McLaughlin, Christopher John Mungall, David Osumi-Sutherland, Peter Nick Robinson, Damian Smedley, Julius O B Jacobsen
Towards a standard benchmark for variant and gene prioritisation algorithms: PhEval - Phenotypic inference Evaluation framework. bioRxiv : the preprint server for biology (2024)
Michael Henri Duyzend, Pilar Cacheiro, Julius O B Jacobsen, Jessica L Giordano, Harrison Brand, Ronald J Wapner, Michael E Talkowski, Peter Nick Robinson, Damian Smedley
Improving prenatal diagnosis through standards and aggregation. Prenatal diagnosis 44 (4) (2024)
Michael Henri Duyzend, Pilar Cacheiro, Julius O B Jacobsen, Jessica L Giordano, Harrison Brand, Ronald J Wapner, Michael E Talkowski, Peter Nick Robinson, Damian Smedley
Improving prenatal diagnosis through standards and aggregation. Prenatal diagnosis 44 (4) (2024)
Michael Henri Duyzend, Pilar Cacheiro, Julius O B Jacobsen, Jessica L Giordano, Harrison Brand, Ronald J Wapner, Michael E Talkowski, Peter Nick Robinson, Damian Smedley
Improving prenatal diagnosis through standards and aggregation. Prenatal diagnosis (2024)
Michael Henri Duyzend, Pilar Cacheiro, Julius O B Jacobsen, Jessica L Giordano, Harrison Brand, Ronald J Wapner, Michael E Talkowski, Peter Nick Robinson, Damian Smedley
Improving prenatal diagnosis through standards and aggregation. Prenatal diagnosis 44 (4) (2024)
Daniel Danis, Michael J Bamshad, Yasemin Bridges, Pilar Cacheiro, Leigh C Carmody, Jessica Xiao-Ling Chong, Ben Coleman, Raymond Dalgleish, Peter J Freeman, Adam S L Graefe, Tudor Groza, Julius O B Jacobsen, Adam Klocperk, Maaike A A Kusters, Markus S Ladewig, Anthony J Marcello, Teresa Mattina, Christopher John Mungall, Monica C Munoz-Torres, Justin T Reese, Filip Rehburg, Bárbara C S Reis, Catharina Schuetz, Damian Smedley, Timmy Strauß, Jagadish Chandrabose Sundaramurthi, Sylvia Thun, Kyran Wissink, John F Wagstaff, David Zocche, Melissa A Haendel, Peter Nick Robinson
A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery. medRxiv : the preprint server for health sciences (2024)
Pilar Cacheiro, Samantha Lawson, Ignatia B Van den Veyver, Gabriel Marengo, David Zocche, Stephen A Murray, Michael Henri Duyzend, Peter Nick Robinson, Damian Smedley
Lethal phenotypes in Mendelian disorders. medRxiv : the preprint server for health sciences (2024)
Michael Henri Duyzend, Pilar Cacheiro, Julius O B Jacobsen, Jessica L Giordano, Harrison Brand, Ronald J Wapner, Michael E Talkowski, Peter Nick Robinson, Damian Smedley
Improving prenatal diagnosis through standards and aggregation. Prenatal diagnosis 44 (4) (2024)
Michael Henri Duyzend, Pilar Cacheiro, Julius O B Jacobsen, Jessica L Giordano, Harrison Brand, Ronald J Wapner, Michael E Talkowski, Peter Nick Robinson, Damian Smedley
Improving prenatal diagnosis through standards and aggregation. Prenatal diagnosis 44 (4) (2024)
Pilar Cacheiro, Samantha Lawson, Ignatia B Van den Veyver, Gabriel Marengo, David Zocche, Stephen A Murray, Michael Henri Duyzend, Peter Nick Robinson, Damian Smedley
Lethal phenotypes in Mendelian disorders. medRxiv : the preprint server for health sciences (2024)
Daniel Danis, Michael J Bamshad, Yasemin Bridges, Pilar Cacheiro, Leigh C Carmody, Jessica Xiao-Ling Chong, Ben Coleman, Raymond Dalgleish, Peter J Freeman, Adam S L Graefe, Tudor Groza, Julius O B Jacobsen, Adam Klocperk, Maaike A A Kusters, Markus S Ladewig, Anthony J Marcello, Teresa Mattina, Christopher John Mungall, Monica C Munoz-Torres, Justin T Reese, Filip Rehburg, Bárbara C S Reis, Catharina Schuetz, Damian Smedley, Timmy Strauß, Jagadish Chandrabose Sundaramurthi, Sylvia Thun, Kyran Wissink, John F Wagstaff, David Zocche, Melissa A Haendel, Peter Nick Robinson
A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery. medRxiv : the preprint server for health sciences (2024)
Pilar Cacheiro, Samantha Lawson, Ignatia B Van den Veyver, Gabriel Marengo, David Zocche, Stephen A Murray, Michael Henri Duyzend, Peter Nick Robinson, Damian Smedley
Lethal phenotypes in Mendelian disorders. medRxiv : the preprint server for health sciences (2024)
Michael Henri Duyzend, Pilar Cacheiro, Julius O B Jacobsen, Jessica L Giordano, Harrison Brand, Ronald J Wapner, Michael E Talkowski, Peter Nick Robinson, Damian Smedley
Improving prenatal diagnosis through standards and aggregation. Prenatal diagnosis 44 (4) (2024)
Michael Henri Duyzend, Pilar Cacheiro, Julius O B Jacobsen, Jessica L Giordano, Harrison Brand, Ronald J Wapner, Michael E Talkowski, Peter Nick Robinson, Damian Smedley
Improving prenatal diagnosis through standards and aggregation. Prenatal diagnosis (2024)
Michael Henri Duyzend, Pilar Cacheiro, Julius O B Jacobsen, Jessica L Giordano, Harrison Brand, Ronald J Wapner, Michael E Talkowski, Peter Nick Robinson, Damian Smedley
Improving prenatal diagnosis through standards and aggregation. Prenatal diagnosis (2024)
Michael Henri Duyzend, Pilar Cacheiro, Julius O B Jacobsen, Jessica L Giordano, Harrison Brand, Ronald J Wapner, Michael E Talkowski, Peter Nick Robinson, Damian Smedley
Improving prenatal diagnosis through standards and aggregation. Prenatal diagnosis (2024)
Michael Henri Duyzend, Pilar Cacheiro, Julius O B Jacobsen, Jessica L Giordano, Harrison Brand, Ronald J Wapner, Michael E Talkowski, Peter Nick Robinson, Damian Smedley
Improving prenatal diagnosis through standards and aggregation. Prenatal diagnosis (2024)
Pilar Cacheiro, Nadine Spielmann, Hamed Haseli Mashhadi, Helmut Fuchs, Valérie Gailus-Durner, Damian Smedley, Martin Hrabě de Angelis
Knockout mice represent an important tool for the multisystemic study of human monogenic heart disease. Disease models & mechanisms (2023)
Timothy Putman, Kevin Schaper, Nicolas A Matentzoglu, Vincent P Rubinetti, Faisal S Alquaddoomi, Corey Cox, J Harry Caufield, Glass Elsarboukh, Sarah Gehrke, Harshad Hegde, Justin T Reese, Ian Braun, Richard M Bruskiewich, Luca Cappelletti, Seth J Carbon, Anita R Caron, Lauren E Chan, Christopher G Chute, Katherina G Cortes, Vinícius De Souza, Tommaso Fontana, Nomi L Harris, Emily L Hartley, Eric Hurwitz, Julius O B Jacobsen, Madan Krishnamurthy, Bryan J Laraway, James Alastair McLaughlin, Julie A McMurry, Sierra A T Moxon, Kathleen R Mullen, Shawn T O'Neil, Kent A Shefchek, Ray Stefancsik, Sabrina Toro, Nicole A Vasilevsky, Ramona L Walls, Patricia L Whetzel, David Osumi-Sutherland, Damian Smedley, Peter Nick Robinson, Christopher John Mungall, Melissa A Haendel, Monica C Munoz-Torres
The Monarch Initiative in 2024: an analytic platform integrating phenotypes, genes and diseases across species. Nucleic acids research (2023)
Pilar Cacheiro, Nadine Spielmann, Hamed Haseli Mashhadi, Helmut Fuchs, Valérie Gailus-Durner, Damian Smedley, Martin Hrabě de Angelis
Knockout mice are an important tool for human monogenic heart disease studies. Disease models & mechanisms 16 (5) (2023)
Zhongbo Chen, Arianna Tucci, Valentina Cipriani, Emil Karl Gustavsson, Kristina Ibañez, Regina Hertfelder Reynolds, David Zhang, Letizia Vestito, Alejandro Cisterna-García, Siddharth Sethi, Jonathan W Brenton, Sonia García-Ruiz, Aine Fairbrother-Browne, Ana-Luisa Gil-Martinez, null null, John A Hardy, Damian Smedley, Henry Houlden, Juan Botía, Mina Ryten
Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia. Brain : a journal of neurology (2023)
Pilar Cacheiro, Nadine Spielmann, Hamed Haseli Mashhadi, Helmut Fuchs, Valérie Gailus-Durner, Damian Smedley, Martin Hrabě de Angelis
Knockout mice are an important tool for human monogenic heart disease studies. Disease models & mechanisms 16 (5) (2023)
Ray Stefancsik, James P Balhoff, Meghan A Balk, Robyn L Ball, Susan M Bello, Anita R Caron, Elissa J Chesler, Vinícius De Souza, Sarah Gehrke, Melissa A Haendel, Laura W Harris, Nomi L Harris, Arwa Ibrahim, Sebastian Koehler, Nicolas A Matentzoglu, Julie A McMurry, Christopher John Mungall, Monica C Munoz-Torres, Timothy Putman, Peter Nick Robinson, Damian Smedley, Elliot Sollis, Anne E Thessen, Nicole A Vasilevsky, David O Walton, David Osumi-Sutherland
The Ontology of Biological Attributes (OBA) - Computational Traits for the Life Sciences. bioRxiv : the preprint server for biology (2023)
Michael A Gargano, Nicolas A Matentzoglu, Ben Coleman, Eunice B Addo-Lartey, Anna V Anagnostopoulos, Joel Anderton, Paul Avillach, Anita M Bagley, Eduard Bakštein, James P Balhoff, Gareth Baynam, Susan M Bello, Michael Berk, Holli Bertram, Somer L Bishop, Hannah Blau, David F Bodenstein, Pablo Botas, Kaan Boztug, Jolana Čady, Tiffany J Callahan, Rhiannon Cameron, Seth J Carbon, Francisco Castellanos, J Harry Caufield, Lauren E Chan, Christopher G Chute, Jaime Cruz-Rojo, Noemi Dahan-Oliel, Jon Robert Davids, Maud De Dieuleveult, Vinicius de Souza, Bert B A de Vries, Esther de Vries, J Raymond DePaulo, Beata Derfalvi, Ferdinand Dhombres, Claudia Diaz-Byrd, Alexander J M Dingemans, Bruno Donadille, Michael Henri Duyzend, Reem Elfeky, Shahim Essaid, Carolina Fabrizzi, Giovanna Fico, Helen V Firth, Yun Freudenberg-Hua, Janice M Fullerton, Davera L Gabriel, Kimberley C Gilmour, Jessica L Giordano, Fernando S Goes, Rachel Gore Moses, Ian Green, Matthias Griese, Tudor Groza, Weihong Gu, Julia Pazmandi, Benjamin M Gyori, Ada Hamosh, Marc Hanauer, Kateřina Hanušová, Yongqun Oliver He, Harshad Hegde, Ingo Helbig, Kateřina Řehořová, Charles Tapley Hoyt, Shangzhi Huang, Eric Hurwitz, Julius O B Jacobsen, Xiaofeng Jiang, Lisa Joseph, Kamyar Keramatian, Bryan King, Katrin Knoflach, David A Koolen, Megan L Kraus, Carlo Kroll, Maaike A A Kusters, Markus S Ladewig, David Lagorce, Meng-Chuan Lai, Pablo Lapunzina, Bryan Laraway, David Lewis-Smith, Xiarong Li, Caterina Lucano, Marzieh Majd, Mary L Marazita, Victor Martínez-González, Toby H McHenry, Melvin G McInnis, Julie A McMurry, Michaela Zelinová, Caitlin E Millett, Philip B Mitchell, Veronika Moslerová, Kenji Narutomi, Shahrzad Nematollahi, Julián Nevado, Andrew A Nierenberg, Nikola Novák Čajbiková, Michael C Neale, Soichi Ogishima, Daniel Olson, Abigail Ortiz, Harry Pachajoa, Guiomar Perez de Nanclares, Amy T Peters, Timothy Putman, Christina K Rapp, Ana Rath, Justin T Reese, Lauren Rekerle, Angharad M Roberts, Suzy Roy, Stephan J Sanders, Catharina Schuetz, Eva C Schulte, Thomas G Schulze, Martin Schwarz, Katie Scott, Dominik Seelow, Berthold Seitz, Yiping Shen, Morgan N Similuk, Eric S Simon, Balwinder Singh, Damian Smedley, Cynthia L Smith, Jake T Smolinsky, Sarah H Sperry, Elizabeth Stafford, Ray Stefancsik, Robin Steinhaus, Rebecca Strawbridge, Jagadish Chandrabose Sundaramurthi, Polina Talapova, Jair Antonio Tenorio Castaño, Pavel Tesner, Rhys Huw Thomas, Audrey Thurm, Marek Turnovec, Marielle E van Gijn, Nicole A Vasilevsky, Markéta Vlčková, Anita Walden, Kai Wang, Ronald J Wapner, James Simon Ware, Addo A Wiafe, Samuel A Wiafe, Lisa D Wiggins, Andrew E Williams, Chen Wu, Margot Julia Wyrwoll, Hui Xiong, Nefize Yalin, Yasunori Yamamoto, Lakshmi N Yatham, Anastasia K Yocum, Allan H Young, Zafer Yüksel, Peter P Zandi, Andreas Zankl, Ignacio Zarante, Miroslav Zvolský, Sabrina Toro, Leigh C Carmody, Nomi L Harris, Monica C Munoz-Torres, Daniel Danis, Christopher John Mungall, Sebastian Koehler, Melissa A Haendel, Peter Nick Robinson
The Human Phenotype Ontology in 2024: phenotypes around the world. Nucleic acids research (2023)
Sarah L Stenton, Melanie O'Leary, Gabrielle T Lemire, Grace E VanNoy, Stephanie DiTroia, Vijay S Ganesh, Emily Groopman, Emily O'Heir, Brian Mangilog, Ikeoluwa Osei-Owusu, Lynn S Pais, Jillian G Serrano, Moriel H Singer-Berk, Ben Weisburd, Michael Wilson, Christina Austin-Tse, Marwa Abdelhakim, Azza Thamer Althagafi, Giulia Babbi, Riccardo Bellazzi, Samuele Bovo, Maria Giulia Carta, Rita Casadio, Pieter-Jan Coenen, Federica De Paoli, Matteo Floris, Manavalan Gajapathy, Hoehndorf Robert, Julius O B Jacobsen, Thomas Joseph, Akash Kamandula, Panagiostis Katsonis, Cyrielle Kint, Olivier Lichtarge, Ivan Limongelli, Yulan Lu, Paolo Magni, Tarun Karthik Kumar Mamidi, Pier Luigi Martelli, Marta Mulargia, Giovanna Nicora, Keith Nykamp, Vikas Pejaver, Yisu Peng, Thi Hong Cam Pham, Maurizio S Podda, Aditya Rao, Ettore Rizzo, Vangala G Saipradeep, Castrense Savojardo, Peter Schols, Yang Shen, Naveen Sivadasan, Damian Smedley, Dorian Soru, Rajgopal Srinivasan, Yuanfei Sun, Uma Sunderam, Wuwei Tan, Naina Tiwari, Xiao Wang, Yaqiong Wang, Amanda Williams, Elizabeth A Worthey, Rujie Yin, Yuning You, Daniel Zeiberg, Susanna Zucca, Constantina Bakolitsa, Steven E Brenner, Stephanie Malia Fullerton, Predrag Radivojac, Michael J Bamshad, Anne H O'Donnell-Luria
Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project. medRxiv : the preprint server for health sciences (2023)
Zhongbo Chen, Arianna Tucci, Valentina Cipriani, Emil Karl Gustavsson, Kristina Ibañez, Regina Hertfelder Reynolds, David Zhang, Letizia Vestito, Alejandro Cisterna-García, Siddharth Sethi, Jonathan W Brenton, Sonia García-Ruiz, Aine Fairbrother-Browne, Ana-Luisa Gil-Martinez, null null, John A Hardy, Damian Smedley, Henry Houlden, Juan Botía, Mina Ryten
Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia. Brain : a journal of neurology (2023)
Ray Stefancsik, James P Balhoff, Meghan A Balk, Robyn L Ball, Susan M Bello, Anita R Caron, Elissa J Chesler, Vinícius De Souza, Sarah Gehrke, Melissa A Haendel, Laura W Harris, Nomi L Harris, Arwa Ibrahim, Sebastian Koehler, Nicolas A Matentzoglu, Julie A McMurry, Christopher John Mungall, Monica C Munoz-Torres, Timothy Putman, Peter Nick Robinson, Damian Smedley, Elliot Sollis, Anne E Thessen, Nicole A Vasilevsky, David O Walton, David Osumi-Sutherland
The Ontology of Biological Attributes (OBA) - Computational Traits for the Life Sciences. bioRxiv : the preprint server for biology (2023)
Pilar Cacheiro, Nadine Spielmann, Hamed Haseli Mashhadi, Helmut Fuchs, Valérie Gailus-Durner, Damian Smedley, Martin Hrabě de Angelis
Knockout mice are an important tool for human monogenic heart disease studies. Disease models & mechanisms 16 (5) (2023)
Julius O B Jacobsen, Catherine Kelly, Valentina Cipriani, Peter N Robinson, Damian Smedley
Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases. Briefings in bioinformatics 23 (5) (2022)
Julius O B Jacobsen, Catherine Kelly, Valentina Cipriani, Genomics England Research Consortium, Christopher J Mungall, Justin Reese, Daniel Danis, Peter Nick Robinson, Damian Smedley
Phenotype-driven approaches to enhance variant prioritization and diagnosis of rare disease. Human mutation 43 (8) (2022)
Nadine Spielmann, Gregor Miller, Tudor I Oprea, Chih-Wei Hsu, Gisela Fobo, Goar Frishman, Corinna Montrone, Hamed Haseli Mashhadi, Jeremy C Mason, Violeta Munoz Fuentes, Stefanie Leuchtenberger, Andreas Ruepp, Matias Wagner, Dominik Sebastian Westphal, Cordula M Wolf, Agnes Görlach, Adrián Sanz-Moreno, Yi-Li Cho, Raffaele Teperino, Stefan Brandmaier, Sapna Sharma, Isabella Rikarda Galter, Manuela A Östereicher, Lilly Zapf, Philipp Mayer-Kuckuk, Jan Rozman, Lydia Teboul, Rosie K A Bunton-Stasyshyn, Heather L Cater, Michelle Stewart, Skevoulla Christou, Henrik Westerberg, Amelia M Willett, Janine M Wotton, Willson B Roper, Audrey E Christiansen, Christopher S Ward, Jason D Heaney, Corey L Reynolds, Jan Prochazka, Lynette Bower, Dave A Clary, Mohammed Selloum, Ghina Bou About, Olivia Wendling, Hugues Jacobs, Sophie Leblanc, Hamid Meziane, Tania Sorg, Enrique Audain, Arthur Gilly, Nigel William Rayner, null null, null null, Marc-Phillip Hitz, Eleftheria Zeggini, Eckhard Wolf, Radislav Sedlacek, Stephen A Murray, Karen L Svenson, Robert E Braun, Jaqueline K White, Lois Kelsey, Xiang Gao, Toshihiko Shiroishi, Ying Xu, Je-Kyung Seong, Fabio Mammano, Glauco P Tocchini-Valentini, Arthur L Beaudet, Terrence F Meehan, Helen Parkinson, Damian Smedley, Ann-Marie Mallon, Sara E Wells, Harald Grallert, Wolfgang Wurst, Susan Marschall, Helmut Fuchs, Steve D M Brown, Ann M Flenniken, Lauryl M J Nutter, Colin McKerlie, Yann Hérault, K C Kent Lloyd, Mary E Dickinson, Valérie Gailus-Durner, Martin Hrabě de Angelis
Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy. Nature cardiovascular research 1 (2) (2022)
Tudor Groza, Federico Lopez Gomez, Hamed Haseli Mashhadi, Violeta Muñoz-Fuentes, Osman Gunes, Robert Wilson, Pilar Cacheiro, Anthony Frost, Piia Keskivali-Bond, Bora Vardal, Aaron McCoy, Tsz Kwan Cheng, Luis Santos, Sara Wells, Damian Smedley, Ann-Marie Mallon, Helen Parkinson
The International Mouse Phenotyping Consortium: comprehensive knockout phenotyping underpinning the study of human disease. Nucleic acids research (2022)
Krishna G Aragam, Tao Jiang, Anuj Goel, Stavroula Kanoni, Brooke N Wolford, Deepak S Atri, Elle M Weeks, Minxian Wang, George Hindy, Wei Zhou, Christopher Grace, Carolina Roselli, Nicholas A Marston, Frederick K Kamanu, Ida Surakka, Loreto Muñoz Venegas, Paul Sherliker, Satoshi Koyama, Kazuyoshi Ishigaki, Bjørn Olav Åsvold, Michael R Brown, Ben Michael Brumpton, Paul S de Vries, Olga Giannakopoulou, Panagiota Giardoglou, Daníel F Guðbjartsson, Ulrich Güldener, Syed M Ijlal Haider, Anna Helgadottir, Maysson Ibrahim, Adnan Kastrati, Thorsten Kessler, Theodosios Kyriakou, Tomasz Konopka, Ling Li, Lijiang Ma, Thomas Meitinger, Sören Mucha, Matthias Munz, Federico Murgia, Jonas B Nielsen, Markus M Nöthen, Shichao Pang, Tobias Reinberger, Gavin Schnitzler, Damian Smedley, Gudmar Thorleifsson, Moritz von Scheidt, Jacob C Ulirsch, null null, null null, David O Arnar, Noël P Burtt, Maria C Costanzo, Jason Flannick, Shefali S Verma, Dong-Keun Jang, Yoichiro Kamatani, Amit V Khera, Issei Komuro, Iftikhar J Kullo, Luca A Lotta, Christopher P Nelson, Robert Roberts, Gudmundur Thorgeirsson, Unnur Thorsteinsdottir, Thomas R Webb, Aris Baras, Johan L M Bjorkegren, Eric Boerwinkle, George Dedoussis, Hilma Hólm, Kristian Hveem, Olle Melander, Alanna C Morrison, Marju Orho-Melander, Loukianos S Rallidis, Arno Ruusalepp, Marc S Sabatine, Kári Stefánsson, Pierre Zalloua, Patrick T Ellinor, Martin Farrall, John Danesh, Christian T Ruff, Hilary K Finucane, Jemma C Hopewell, Robert J Clarke, Rajat M Gupta, Jeanette Erdmann, Nilesh J Samani, Heribert Schunkert, Hugh C Watkins, Cristen J Willer, Panos Deloukas, Sekar Kathiresan, Adam S Butterworth, null null
Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants. Nature genetics 54 (12) (2022)
Pilar Cacheiro, Carl Henrik Westerberg, Jesse Mager, Mary E Dickinson, Lauryl M J Nutter, Violeta Muñoz-Fuentes, Chih-Wei Hsu, Ignatia B Van den Veyver, Ann M Flenniken, Colin McKerlie, Stephen A Murray, Lydia Teboul, Jason D Heaney, K C Kent Lloyd, Louise Lanoue, Robert E Braun, Jacqueline K White, Amie K Creighton, Valerie Laurin, Ruolin Guo, Dawei Qu, Sara Wells, James Cleak, Rosie Bunton-Stasyshyn, Michelle Stewart, Jackie Harrisson, Jeremy Mason, Hamed Haseli Mashhadi, Helen Parkinson, Ann-Marie Mallon, null null, null null, Damian Smedley
Mendelian gene identification through mouse embryo viability screening. Genome medicine 14 (1) (2022)
Steven Laurie, Davide Piscia, Leslie Matalonga, Alberto Corvó, Marcos Fernandez-Callejo, Carles Garcia-Linares, Carles Hernandez-Ferrer, Cristina Luengo, Inés Martínez, Anastasios Papakonstantinou, Daniel Picó-Amador, Joan Protasio, Rachel Thompson, Raul Tonda, Mònica Bayés, Gemma Bullich, Jordi Camps-Puchadas, Ida Paramonov, Jean-Rémi Trotta, Angel Alonso, Marcella Attimonelli, Christophe Béroud, Virginie Bros-Facer, Orion J Buske, Andrés Cañada-Pallarés, José María Fernandez, Mats G Hansson, Rita Horvath, Julius O B Jacobsen, Rajaram Kaliyaperumal, Séverine Lair-Préterre, Luana Licata, Pedro Lopes, Estrella López-Martín, Deborah Mascalzoni, Lucia Monaco, Luis A Pérez-Jurado, Manuel Posada-de-la-Paz, Jordi Rambla De Argila, Ana Rath, Olaf H Rieß, Peter Nick Robinson, David Salgado, Damian Smedley, J Dylan Spalding, Peter A C 't Hoen, Ana Topf, Irina T Zaharieva, Holm Graessner, Ivo Glynne Gut, Hanns Lochmüller, Sergi Beltran
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases. Human mutation 43 (6) (2022)
Nadine Spielmann, Gregor Miller, Tudor I Oprea, Chih-Wei Hsu, Gisela Fobo, Goar Frishman, Corinna Montrone, Hamed Haseli Mashhadi, Jeremy C Mason, Violeta Munoz Fuentes, Stefanie Leuchtenberger, Andreas Ruepp, Matias Wagner, Dominik Sebastian Westphal, Cordula M Wolf, Agnes Görlach, Adrián Sanz-Moreno, Yi-Li Cho, Raffaele Teperino, Stefan Brandmaier, Sapna Sharma, Isabella Rikarda Galter, Manuela A Östereicher, Lilly Zapf, Philipp Mayer-Kuckuk, Jan Rozman, Lydia Teboul, Rosie K A Bunton-Stasyshyn, Heather L Cater, Michelle Stewart, Skevoulla Christou, Henrik Westerberg, Amelia M Willett, Janine M Wotton, Willson B Roper, Audrey E Christiansen, Christopher S Ward, Jason D Heaney, Corey L Reynolds, Jan Prochazka, Lynette Bower, Dave A Clary, Mohammed Selloum, Ghina Bou About, Olivia Wendling, Hugues Jacobs, Sophie Leblanc, Hamid Meziane, Tania Sorg, Enrique Audain, Arthur Gilly, Nigel William Rayner, null null, null null, Marc-Phillip Hitz, Eleftheria Zeggini, Eckhard Wolf, Radislav Sedlacek, Stephen A Murray, Karen L Svenson, Robert E Braun, Jaqueline K White, Lois Kelsey, Xiang Gao, Toshihiko Shiroishi, Ying Xu, Je-Kyung Seong, Fabio Mammano, Glauco P Tocchini-Valentini, Arthur L Beaudet, Terrence F Meehan, Helen Parkinson, Damian Smedley, Ann-Marie Mallon, Sara E Wells, Harald Grallert, Wolfgang Wurst, Susan Marschall, Helmut Fuchs, Steve D M Brown, Ann M Flenniken, Lauryl M J Nutter, Colin McKerlie, Yann Hérault, K C Kent Lloyd, Mary E Dickinson, Valérie Gailus-Durner, Martin Hrabě de Angelis
Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy. Nature cardiovascular research 1 (2) (2022)
Nadine Spielmann, Gregor Miller, Tudor I Oprea, Chih-Wei Hsu, Gisela Fobo, Goar Frishman, Corinna Montrone, Hamed Haseli Mashhadi, Jeremy C Mason, Violeta Munoz Fuentes, Stefanie Leuchtenberger, Andreas Ruepp, Matias Wagner, Dominik Sebastian Westphal, Cordula M Wolf, Agnes Görlach, Adrián Sanz-Moreno, Yi-Li Cho, Raffaele Teperino, Stefan Brandmaier, Sapna Sharma, Isabella Rikarda Galter, Manuela A Östereicher, Lilly Zapf, Philipp Mayer-Kuckuk, Jan Rozman, Lydia Teboul, Rosie K A Bunton-Stasyshyn, Heather L Cater, Michelle Stewart, Skevoulla Christou, Henrik Westerberg, Amelia M Willett, Janine M Wotton, Willson B Roper, Audrey E Christiansen, Christopher S Ward, Jason D Heaney, Corey L Reynolds, Jan Prochazka, Lynette Bower, Dave A Clary, Mohammed Selloum, Ghina Bou About, Olivia Wendling, Hugues Jacobs, Sophie Leblanc, Hamid Meziane, Tania Sorg, Enrique Audain, Arthur Gilly, Nigel William Rayner, null null, null null, Marc-Phillip Hitz, Eleftheria Zeggini, Eckhard Wolf, Radislav Sedlacek, Stephen A Murray, Karen L Svenson, Robert E Braun, Jaqueline K White, Lois Kelsey, Xiang Gao, Toshihiko Shiroishi, Ying Xu, Je-Kyung Seong, Fabio Mammano, Glauco P Tocchini-Valentini, Arthur L Beaudet, Terrence F Meehan, Helen Parkinson, Damian Smedley, Ann-Marie Mallon, Sara E Wells, Harald Grallert, Wolfgang Wurst, Susan Marschall, Helmut Fuchs, Steve D M Brown, Ann M Flenniken, Lauryl M J Nutter, Colin McKerlie, Yann Hérault, K C Kent Lloyd, Mary E Dickinson, Valérie Gailus-Durner, Martin Hrabě de Angelis
Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy. Nature cardiovascular research 1 (2) (2022)
null null, 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 Wei, Kathleen Stirrups, Kristina Ibanez, Loukas Moutsianas, Matthias Wielscher, Anna Need, Michael R Barnes, Letizia Vestito, James Buchanan, Sarah Wordsworth, Sofie Ashford, Karola Rehmström, 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 Gräf, 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 Nick 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, Gráinne Siobhan 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 Németh, Claire Palles, Smita Patel, 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 Mark 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
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report. The New England journal of medicine 385 (20) (2021)
Janine M Wotton, Emma Peterson, Ann M Flenniken, Rasneer Sonia Bains, Surabi Veeraragavan, Lynette R Bower, Jason A Bubier, Marc Parisien, Alexandr Bezginov, Hamed Haseli Mashhadi, Jeremy C Mason, Michayla A Moore, Michelle E Stewart, Dave A Clary, Daniel J Delbarre, Laura C Anderson, Abigail J D'Souza, Leslie P Goodwin, Mark E Harrison, Ziyue Huang, Matthew Mckay, Dawei Qu, Luis Santos, Subhiksha Srinivasan, Rachel Urban, Igor Vukobradovic, Christopher S Ward, Amelia M Willett, Robert E Braun, Steve D M Brown, Mary E Dickinson, Jason D Heaney, Vivek Kumar, Kevin C Kent Lloyd, Ann-Marie Mallon, Colin McKerlie, Stephen A Murray, Lauryl M J Nutter, Helen Parkinson, John R Seavitt, Sara Wells, Rodney C Samaco, Elissa J Chesler, Damian Smedley, Luda Diatchenko, Kyle M Baumbauer, Erin E Young, Robert P Bonin, Silvia Mandillo, Jacqueline K White, null null
Identifying genetic determinants of inflammatory pain in mice using a large-scale gene-targeted screen. Pain 163 (6) (2021)
Pilar Cacheiro, Violeta Munoz Fuentes, Stephen A Murray, Mary E Dickinson, Maja Bucan, Lauryl M J Nutter, Kevin A Peterson, Hamed Haseli Mashhadi, Ann M Flenniken, Hugh Morgan, Henrik Westerberg, Tomasz Konopka, Chih-Wei Hsu, Audrey Christiansen, Denise G Lanza, Arthur L Beaudet, Jason D Heaney, Helmut Fuchs, Valérie Gailus-Durner, Tania Sorg, Jan Prochazka, Vendula Novosadova, Christopher J Lelliott, Hannah Wardle-Jones, Sara Wells, Lydia Teboul, Heather Cater, Michelle Stewart, Tertius Hough, Wolfgang Wurst, Radislav Sedlacek, David J Adams, John R Seavitt, Glauco Tocchini-Valentini, Terrence F Meehan, Robert E Braun, Colin McKerlie, Yann Hérault, Martin Hrabě de Angelis, Ann-Marie Mallon, Kevin C Kent Lloyd, Steve D M Brown, Helen Parkinson, Terrence F Meehan, Damian Smedley, null null, null null
Human and mouse essentiality screens as a resource for disease gene discovery. Nature communications 11 (1) (2020)
Thomas Bourinaris, Damian Smedley, Valentina Cipriani, Isabella Sheikh, Alkyoni Athanasiou-Fragkouli, Patrick F Chinnery, Huw R Morris, Raquel Real, Victoria Harrison, Evan Reid, Nicholas Wood, null null, Jana Vandrovcova, Henry Houlden, Arianna Tucci
Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project. European journal of human genetics : EJHG 28 (12) (2020)
Pilar Cacheiro, Melissa A Haendel, Damian Smedley, null null
New models for human disease from the International Mouse Phenotyping Consortium. Mammalian genome : official journal of the International Mammalian Genome Society 30 (5-6) (2019)
Michael R Bowl, Michelle M Simon, Neil J Ingham, Simon Greenaway, Luis Santos, Heather Cater, Sarah Taylor, Jeremy C Mason, Natalja Kurbatova, Selina Pearson, Lynette R Bower, Dave A Clary, Hamid Meziane, Patrick Reilly, Osamu Minowa, Lois Kelsey, null null, Glauco P Tocchini-Valentini, Xiang Gao, Allan Bradley, William C Skarnes, Mark Moore, Arthur L Beaudet, Monica J Justice, John Seavitt, Mary E Dickinson, Wolfgang Wurst, Martin Hrabě de Angelis, Yann Hérault, Shigeharu Wakana, Lauryl M J Nutter, Ann M Flenniken, Colin McKerlie, Stephen A Murray, Karen L Svenson, Robert E Braun, David B West, Kevin C Kent Lloyd, David J Adams, Jacqui White, Natasha Karp, Paul Flicek, Damian Smedley, Terrence F Meehan, Helen E Parkinson, Lydia M Teboul, Sara Wells, Karen P Steel, Ann-Marie Mallon, Steve D M Brown
A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction. Nature communications 8 (1) (2017)
Julie A McMurry, Sebastian Koehler, Nicole L Washington, James P Balhoff, Charles D Borromeo, Matthew Brush, Seth J Carbon, Tom Conlin, Nathan A Dunn, Mark Engelstad, Erin D Foster, Jean-Philippe Gourdine, Julius O B Jacobsen, Daniel Keith, Bryan Laraway, Jeremy Nguyen Xuan, Kent Shefchek, Nicole A Vasilevsky, Zhou Yuan, Suzanna E Lewis, Harry Hochheiser, Tudor Groza, Damian Smedley, Peter Nick Robinson, Christopher John Mungall, Melissa A Haendel
Navigating the Phenotype Frontier: The Monarch Initiative. Genetics 203 (4) (2017)
Terrence F Meehan, Nathalie Conte, David B West, Julius O Jacobsen, Jeremy C Mason, Jonathan Warren, Chao-Kung Chen, Ilinca Tudose, Mike Relac, Peter Matthews, Natasha Karp, Luis Santos, Tanja Fiegel, Natalie Ring, Henrik Westerberg, Simon Greenaway, Duncan Sneddon, Hugh Morgan, Gemma F Codner, Michelle E Stewart, James Brown, Neil Horner, null null, Melissa Haendel, Nicole Washington, Christopher J Mungall, Corey L Reynolds, Juan Gallegos, Valerie Gailus-Durner, Tania Sorg, Guillaume Pavlovic, Lynette R Bower, Mark Moore, Iva Morse, Xiang Gao, Glauco P Tocchini-Valentini, Yuichi Obata, Soo Young Cho, Je Kyung Seong, John Seavitt, Arthur L Beaudet, Mary E Dickinson, Yann Hérault, Wolfgang Wurst, Martin Hrabě de Angelis, Kevin C Kent Lloyd, Ann M Flenniken, Lauryl M J Nutter, Susan Newbigging, Colin McKerlie, Monica J Justice, Stephen A Murray, Karen L Svenson, Robert E Braun, Jacqueline K White, Allan Bradley, Paul Flicek, Sara Wells, William C Skarnes, David J Adams, Helen Parkinson, Ann-Marie Mallon, Steve D M Brown, Damian Smedley
Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium. Nature genetics 49 (8) (2017)
Melissa A Haendel, Nicole Vasilevsky, Matthew Brush, Harry S Hochheiser, Julius Jacobsen, Anika Oellrich, Christopher J Mungall, Nicole Washington, Sebastian Köhler, Suzanna E Lewis, Peter N Robinson, Damian Smedley
Disease insights through cross-species phenotype comparisons. Mammalian genome : official journal of the International Mammalian Genome Society 26 (9-10) (2015)

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Damian Smedley