Eamonn R. Maher
Active 1990–2025
- Also published as
- Eamonn R Maher
- 274
- Papers
- 60,182
- Citations
- 134
- h-index
- 271
- i10-index
Citations
Citation sources
Countries
Institutions
- Harvard University1%
- Inserm0.9%
- University of Cambridge0.8%
- University College London0.7%
- National Institutes of Health0.7%
- National Cancer Institute0.6%
- Other95.3%
Fields
- Biochemistry, Genetics and Molecular Biology57.5%
- Medicine35.9%
- Neuroscience2.6%
- Immunology and Microbiology2%
- Agricultural and Biological Sciences0.3%
- Environmental Science0.3%
- Other1.4%
Topics
- Cancer, Hypoxia, and Metabolism7.4%
- Epigenetics and DNA Methylation4.6%
- Renal cell carcinoma treatment2.5%
- Genetic Syndromes and Imprinting2.4%
- Renal and related cancers2.2%
- RNA modifications and cancer2.1%
- Other78.8%
Coauthors
- Farida Latif45
- D. Gareth Evans26
- Neil V. Morgan25
- Emma R. Woodward20
- Ashraf Dallol15
- Fiona MacDonald15
- Frances M. Richards14
- Thomas Eggermann14
- Dewi Astuti13
- Richard C. Trembath13
- Fiona Lalloo12
- Louise Tee12
- Luke B. Hesson12
- Patrick J. Morrison12
- Paul Gissen12
- Wolf Reik12
- Andrea Riccio11
- Angelo Agathanggelou11
- Dean Gentle11
- Deborah Mackay11
- Mark R. Morris11
- Shanaz Pasha11
- Trevor Cole11
- Derek Lim10
All papers
- The tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis
Authors: Patrick H. Maxwell, Michael S. Wiesener, Gin-Wen Chang, Steven C. Clifford, Emma C. Vaux, Matthew E. Cockman, Charles C. Wykoff, Christopher W. Pugh, Eamonn R. Maher, Peter J. Ratcliffe - Nature 1999 cited by 5,225
- Whole-genome sequencing of patients with rare diseases in a national health system
Authors: Ernest Turro, William J. Astle, Karyn Mégy, Stefan Gräf, Daniel Greene, Olga Shamardina, Hana Lango Allen, Alba Sanchis‐Juan, Mattia Frontini, Chantal Thys, Jonathan Stephens, Rutendo Mapeta, Oliver S. Burren, Kate Downes, Matthias Haimel, Salih Tuna, Sri V. V. Deevi, Timothy J. Aitman, David Bennett, Paul Calleja, Keren Carss, Mark J. Caulfield, Patrick F. Chinnery, Peter Dixon, Daniel P. Gale, Roger James, Ania Koziell, Michael A. Laffan, Adam P. Levine, Eamonn R. Maher, Hugh S. Markus, Joannella Morales, Nicholas W. Morrell, Andrew Mumford, Elizabeth Ormondroyd, Stuart Rankin, Augusto Rendon, Sylvia Richardson, Irene Roberts, Noémi Roy, Moin A. Saleem, Kenneth G. C. Smith, Hannah Stark, Rhea Tan, Andreas C. Themistocleous, Adrian J. Thrasher, Hugh Watkins, Andrew R. Webster, Martin R. Wilkins, Catherine Williamson, James Whitworth, Sean Humphray, David R. Bentley, NIHR BioResource for the 100,000 Genomes Project, Stephen Abbs, Lara Abulhoul, Julian Adlard, Munaza Ahmed, Timothy J. Aitman, Hana Alachkar, David Allsup, J. P. Almeida, Philip Ancliff, Richard Antrobus, Ruth Armstrong, Gavin Arno, Sofie Ashford, William J. Astle, Anthony Attwood, Paul Aurora, Christian Babbs, Chiara Bacchelli, Tamam Bakchoul, Siddharth Banka, Tadbir K. Bariana, Julian Barwell, Joana Batista, Helen Baxendale, Phil Beales, David Bennett, David R. Bentley, Agnieszka Bierżyńska, Tina Biss, Maria Bitner‐Glindzicz, Graeme C. Black, Marta Bleda, Iulia Blesneac, Detlef Böckenhauer, Harm Jan Bogaard, Christian Bourne, Sara Boyce, John R. Bradley, Eugene Bragin, Gerome Breen, Paul Brennan, Carole Brewer, Matthew A. Brown, Andrew C. Browning, Michael J. Browning, Rachel Buchan and 412 more - Nature, Nat. 2020 cited by 582
- Fumarate is an epigenetic modifier that elicits epithelial-to-mesenchymal transition
Authors: Marco Sciacovelli, Emanuel Gonçalves, Timothy Isaac Johnson, Vincent Zecchini, Ana S.H. Costa, Edoardo Gaude, Alizée Vercauteren Drubbel, Sebastian J. Theobald, Sandra Riekje Abbo, Maxine Tran, Vinothini Rajeeve, Simone Cardaci, Sarah Foster, Haiyang Yun, Pedro R. Cutillas, Anne Y. Warren, Vincent J. Gnanapragasam, Eyal Gottlieb, Kristian Franze, Brian J.P. Huntly, Eamonn R. Maher, Patrick H. Maxwell, Julio Sáez-Rodríguez, Christian Frezza - Nature 2016 cited by 598
- VHL, the story of a tumour suppressor gene
Authors: Lucy Gossage, Tim Eisen, Eamonn R. Maher - Nature reviews. Cancer 2014 cited by 787
- Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study
Authors: Jenny Lord, Dominic McMullan, Ruth Y. Eberhardt, Gabriele Rinck, Susan Hamilton, E Quinlan-Jones, Elena Prigmore, Rebecca Keelagher, Sunayna Best, Georgina K. Carey, Rhiannon Mellis, Sarah Robart, Ian Berry, Kate Chandler, Deirdre Cilliers, Lara Cresswell, Sandra L. Edwards, Carol Gardiner, Alex Henderson, Simon Holden, Tessa Homfray, Tracy Lester, Rebecca Lewis, Ruth Newbury‐Ecob, Katrina Prescott, Oliver Quarrell, Simon Ramsden, Eileen Roberts, Dagmar Tapon, Madeleine Tooley, Pradeep Vasudevan, Astrid Weber, Diana Wellesley, Paul Westwood, Helen White, Michael Parker, Denise Williams, Lucy Jenkins, Richard H. Scott, Mark D. Kilby, Lyn S. Chitty, Matthew E. Hurles, Eamonn R. Maher, Mark S. Bateman, Ian Berry, Sunayna Best, Carolyn Campbell, Jenni Campbell, Georgina K. Carey, Kate Chandler, Lyn S. Chitty, Deirdre Cilliers, Kelly Cohen, Emma Collingwood, P. Constantinou, Lara Cresswell, Catherine Delmege, Ruth Y. Eberhardt, Sandra L. Edwards, Richard J. Ellis, Jerry Evans, Thomas R. Everett, Clare F Pinto, Natalie Forrester, Emma Fowler, Carol Gardiner, Susan Hamilton, Karen Healey, Alex Henderson, Simon Holden, Tessa Homfray, Rebecca Hudson, Matthew E. Hurles, Lucy Jenkins, Rebecca Keelagher, Mark D. Kilby, Tracey Lester, Rebecca Lewis, Jenny Lord, Eamonn R. Maher, Tamás Marton, Dominic McMullan, Sarju Mehta, Rhiannon Mellis, Ruth Newbury‐Ecob, Soo‐Mi Park, Michael Parker, Katrina Prescott, Elena Prigmore, Oliver Quarrell, E Quinlan-Jones, Simon Ramsden, Gabriele Rinck, Sarah Robart, Eileen Roberts, Jayne Rowland, Richard H. Scott, James Steer, Dagmar Tapon, Emma Taylor and 8 more - The Lancet 2019 cited by 708
- Cancer Risks Associated With GermlinePALB2Pathogenic Variants: An International Study of 524 Families
Authors: Xin Yang, Goska Leslie, Alicja Doroszuk, Sandra Schneider, Jamie Allen, Brennan Decker, Alison M. Dunning, James Redman, James A. Scarth, Inga Plaskocinska, Craig Luccarini, Mitul Shah, Karen A. Pooley, Leila Dorling, Andrew Lee, Muriel A. Adank, Julian Adlard, Kristiina Aittomäki, Irene L. Andrulis, Peter Ang, Julian Barwell, Jonine L. Bernstein, Kristie Bobolis, Åke Borg, Carl Blomqvist, Kathleen Claes, Patrick Concannon, Adeline Cuggia, Julie O. Culver, Francesca Damiola, Antoine De Pauw, Orland Dı́ez, Jill S. Dolinsky, Susan M. Domchek, Christoph Engel, D. Gareth Evans, Florentia Fostira, Judy E. Garber, Lisa Golmard, Ellen L. Goode, Stephen B. Gruber, Eric Hahnen, Christopher R. Hake, Tuomas Heikkinen, Judith Hurley, Ramūnas Janavičius, Zdeněk Kleibl, Petra Kleiblová, Irene Konstantopoulou, Anders Kvist, Holly LaDuca, Ann S. G. Lee, Fabienne Lesueur, Eamonn R. Maher, Arto Mannermaa, Siranoush Manoukian, Rachel McFarland, Wendy McKinnon, Alfons Meindl, Kelly Metcalfe, Nur Aishah Mohd Taib, Jukka S. Moilanen, Katherine L. Nathanson, Susan L. Neuhausen, Pei Sze Ng, Tú Nguyen‐Dumont, Sarah M. Nielsen, Florian Obermair, Kenneth Offit, Olufunmilayo I. Olopade, Laura Ottini, Judith Penkert, Katri Pylkäs, Paolo Radice, Susan J. Ramus, Vilius Rudaitis, Lucy Side, Rachel Silva‐Smith, Valentina Silvestri, Anne‐Bine Skytte, Thomas Slavin, Jana Soukupová, Carlo Tondini, Alison H. Trainer, Gary Unzeitig, Lydia Usha, Thomas van Overeem Hansen, James Whitworth, Marie Wood, Cheng Har Yip, Sook‐Yee Yoon, Amal Yussuf, George Zogopoulos, David E. Goldgar, John L. Hopper, Georgia Chenevix‐Trench, Paul D.P. Pharoah, Sophia George, Judith Balmañà, Claude Houdayer and 19 more - Journal of Clinical Oncology 2019 cited by 418
- Cancer prevention with aspirin in hereditary colorectal cancer (Lynch syndrome), 10-year follow-up and registry-based 20-year data in the CAPP2 study: a double-blind, randomised, placebo-controlled trial
Authors: John Burn, Harsh Sheth, Faye Elliott, Lynn Reed, Finlay Macrae, Jukka‐Pekka Mecklin, Gabriela Möslein, Fiona E. McRonald, Lucio Bertario, D. Gareth Evans, Anne‐Marie Gerdes, Judy W.C. Ho, Annika Lindblom, Patrick J. Morrison, Jem Rashbass, Raj Ramesar, Toni T. Seppälä, Huw Thomas, Kirsi Pylvänäinen, Gillian M. Borthwick, John C. Mathers, D. Timothy Bishop, Alex Boussioutas, Carole Brewer, Jackie Cook, Diana Eccles, Anthony Ellis, Shirley V. Hodgson, Jan Lubiński, Eamonn R. Maher, Mary Porteous, Julian R. Sampson, Rodney J. Scott, Lucy Side - The Lancet 2020 cited by 403
- Genomic imprinting disorders: lessons on how genome, epigenome and environment interact
Authors: David Monk, Deborah Mackay, Thomas Eggermann, Eamonn R. Maher, Andrea Riccio - Nature Reviews Genetics 2019 cited by 463
- Hypoxia, Hypoxia-inducible Transcription Factors, and Renal Cancer
Authors: Johannes Schödel, Steffen Grampp, Eamonn R. Maher, Holger Moch, Peter J. Ratcliffe, Paul Russo, David R. Mole - European Urology 2015 cited by 423
- Identification of the von Hippel-Lindau Disease Tumor Suppressor Gene
Authors: Farida Latif, Kálmán Tory, James R. Gnarra, Masahiro Yao, Fuh-Mei Duh, Mary Lou Orcutt, Thomas Stackhouse, Igor Kuzmin, William S. Modi, L. Geil, Laura S. Schmidt, Fangwei Zhou, Hua Li, Ming Wei, Fan Chen, G.M. Glenn, Peter Choyke, McClellan M. Walther, Yongkai Weng, Dah-Shuhn R. Duan, Michael Dean, Damjan Glavač, Frances M. Richards, Paul A. Crossey, M.A. Ferguson‐Smith, Denis Le Paslier, llya Chumakov, Daniel Cohen, A. Craig Chinault, Eamonn R. Maher, W. Marston Linehan, Berton Zbar, Michael I. Lerman - Science 1993 cited by 3,015
- Germline selection shapes human mitochondrial DNA diversity
Authors: Wei Wei, Salih Tuna, Michael J. Keogh, Katherine R. Smith, Katherine R. Smith, Timothy J. Aitman, Phil L. Beales, David Bennett, Daniel P. Gale, Maria A. K. Bitner-Glindzicz, Graeme C. Black, Paul Brennan, Perry Elliott, Frances Flinter, R. Andrés Floto, Henry Houlden, Melita Irving, Ania Koziell, Eamonn R. Maher, Hugh S. Markus, Nicholas W. Morrell, William G. Newman, Irene Roberts, John A. Sayer, Kenneth G. C. Smith, Kenneth G. C. Smith, Jenny C. Taylor, Hugh Watkins, Andrew R. Webster, Andrew O.M. Wilkie, Catherine Williamson, NIHR BioResource–Rare Diseases, 100,000 Genomes Project–Rare Diseases Pilot, Sofie Ashford, Christopher J. Penkett, Kathleen Stirrups, Augusto Rendon, Willem H. Ouwehand, John R. Bradley, F. Lucy Raymond, Mark Caulfield, Ernest Turro, Patrick F. Chinnery, Aarnoud Huissoon, Abigail Crisp-Hihn, Adam Shaw, Adam J. Mead, Adam P. Levine, Adrian J. Thrasher, Agnieszka Bierżyńska, Ahamad Hassan, Ajith Kumar, Alba Sanchis‐Juan, Alex Richter, Allan Lawrie, Amy Frary, Andrea H. Németh, Andrea Olschewski, Andreas C. Themistocleous, Andrew C. Browning, Andrew Mumford, Andrew M. Schaefer, Andrew Marshall, Andrew O.M. Wilkie, Andrew Peacock, Andrew R. Harper, Andrew R. Webster, Andrew S.C. Rice, Angela Pyle, Ania Koziell, Anna M. Drazyk, Anne M. Kelly, Annette Wagner, Anthony Attwood, Anthony De Soyza, Anthony M. Vandersteen, Anthony T. Moore, Anton Vonk Noordegraaf, Anupama Rao, Archana Herwadkar, Arjan C. Houweling, Arjune Sen, Augusto Rendon, Austen Worth, Barbara Girerd, Bella Madan, Brian T. Wilson, Carmen Bugarin Diz, Carmen Treacy, Carole Brewer, Carolyn Campbell, Carolyn M. Millar, Catherine Roughley, Catherine Titterton, Catherine Williamson, Cecilia Compton, Cesare Danesino, Chantal Thys, Charaka Hadinnapola, Charu Deshpande and 305 more - Science 2019 cited by 251
- Effects of rare kidney diseases on kidney failure: a longitudinal analysis of the UK National Registry of Rare Kidney Diseases (RaDaR) cohort
Authors: Katie Wong, David Pitcher, Fiona Braddon, Lewis Downward, Retha Steenkamp, Nicholas M. P. Annear, Jonathan Barratt, Coralie Bingham, Constantina Chrysochou, Richard J. Coward, David Game, Siân Griffin, Matt Hall, Sally Johnson, Durga Kanigicherla, Fiona Karet Frankl, David Kavanagh, Larissa Kerecuk, Eamonn R. Maher, Shabbir H. Moochhala, Jenny Pinney, John A Sayer, Roslyn Simms, Smeeta Sinha, Shalabh Srivastava, Frederick W.K. Tam, Andrew Neil Turner, Stephen B Walsh, Aoife Waters, Patricia D. Wilson, Edwin Wong, C. Mark Taylor, Dorothea Nitsch, Moin A. Saleem, Detlef Böckenhauer, Kate Bramham, Daniel P. Gale, Sharirose Abat, Shazia Adalat, Joy O. Agbonmwandolor, Zubaidah Ahmad, Abdulfattah Alejmi, Rashid Almasarwah, Nicholas Annear, Ellie Asgari, Amanda Ayers, Jyoti Baharani, Gowrie Balasubramaniam, Felix Kpodo, Tarun Bansal, Alison Barratt, Jonathan Barratt, Megan Bates, Natalie Bayne, Janet Bendle, Sarah Benyon, Carsten Bergmann, Sunil Bhandari, Coralie Bingham, Preetham Boddana, Sally L. Bond, Fiona Braddon, Kate Bramham, Angela Branson, Stephen Brearey, Vicky Brocklebank, Sharanjit Budwal, Conor Byrne, Hugh Cairns, Brian Camilleri, Gary Campbell, A. Capell, Margaret Carmody, Marion Carson, Tracy Cathcart, Christine Catley, Karine Cesar, Melanie Chan, Houda Chea, James Chess, Chee Kay Cheung, Katy-Jane Chick, Nihil Chitalia, Martin Christian, Constantina Chrysochou, Katherine Clark, Christopher L. Clayton, Rhian Clissold, Helen Cockerill, Joshua Coelho, Elizabeth Colby, Viv Colclough, Eileen Conway, H. Terence Cook, Wendy L. Cook, Theresa Cooper, Richard J. Coward, Sarah Crosbie, Gabor Cserep, Anjali Date and 198 more - The Lancet 2024 cited by 75
- Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial
Authors: John Burn, Anne‐Marie Gerdes, Finlay Macrae, Jukka‐Pekka Mecklin, Gabriela Möslein, Sylviane Olschwang, Diana Eccles, D. Gareth Evans, Eamonn R. Maher, Lucio Bertario, Marie-Luise Bisgaard, Malcolm G. Dunlop, Judy Ho, Shirley V. Hodgson, Annika Lindblom, Jan Lubiński, Patrick J. Morrison, Victoria Murday, Raj Ramesar, Lucy Side, Rodney J. Scott, Huw Thomas, Hans F. A. Vasen, G Barker, Gillian Crawford, Faye Elliott, Mohammad Movahedi, Kirsi Pylvänäinen, Juul Wijnen, Riccardo Fodde, Henry T. Lynch, John C. Mathers, D. Timothy Bishop - The Lancet 2011 cited by 951
- The Deubiquitinase OTULIN Is an Essential Negative Regulator of Inflammation and Autoimmunity
Authors: Rune Busk Damgaard, Jennifer A. Walker, Paola Marco‐Casanova, Neil V. Morgan, Hannah Titheradge, P.R. Elliott, Duncan McHale, Eamonn R. Maher, Andrew N. J. McKenzie, David Komander - Cell 2016 cited by 357
- Imprinting disorders
Authors: Thomas Eggermann, David Monk, Guiomar Pérez de Nanclares, Masayo Kagami, Éloïse Giabicani, Andrea Riccio, Zeynep Tümer, Jennifer M. Kalish, M. Tauber, Jessica Duis, Rosanna Weksberg, Eamonn R. Maher, Matthias Begemann, Miriam Elbracht - Nature Reviews Disease Primers 2023 cited by 79
- Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement
Authors: Frédéric Brioude, Jennifer M. Kalish, Alessandro Mussa, Alison Foster, Jet Bliek, Giovanni Battista Ferrero, Susanne E. Boonen, Trevor Cole, Robert J. Baker, Monica Bertoletti, Guido Cocchi, Carole Coze, Maurizio De Pellegrin, Khalid Hussain, Abdulla Ibrahim, Mark D. Kilby, Małgorzata Krajewska‐Walasek, Christian P. Kratz, E J Ladusans, Pablo Lapunzina, Yves Le Bouc, Saskia M. Maas, Fiona MacDonald, Katrin Õunap, Licia Peruzzi, Sylvie Rossignol, Silvia Russo, Caroleen Shipster, Agata Skórka, Katrina Tatton‐Brown, Jair Tenorio, Chiara Tortora, Karen Grønskov, Irène Netchine, Raoul C. M. Hennekam, Dirk Prawitt, Zeynep Tümer, Thomas Eggermann, Deborah Mackay, Andrea Riccio, Eamonn R. Maher - Nature Reviews Endocrinology 2018 cited by 597
- PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron
Authors: Neil V. Morgan, Shawn K. Westaway, Jenny E.V. Morton, Allison Gregory, Paul Gissen, Scott Sonek, Hakan Cangül, Jason Coryell, Natalie Canham, Nardo Nardocci, Giovanna Zorzi, Shanaz Pasha, Diana Rodriguez, Isabelle Desguerre, Amar Mubaidin, Enrico Bertini, Richard C. Trembath, Alessandro Simonati, Carolyn Schanen, Colin A. Johnson, Barbara Levinson, C. Geoffrey Woods, Beth Wilmot, Patricia Kramer, Jane Gitschier, Eamonn R. Maher, Susan J. Hayflick - Nature Genetics 2006 cited by 538
- Clinical consensus guideline on the management of phaeochromocytoma and paraganglioma in patients harbouring germline SDHD pathogenic variants
Authors: David Taïeb, George B. Wanna, Maleeha Ahmad, Charlotte Lussey‐Lepoutre, Nancy D. Perrier, Svenja Nölting, Laurence Amar, Henri Timmers, Zachary G. Schwam, Anthony L. Estrera, Michael Lim, Erqi L. Pollom, Lucas K. Vitzthum, Isabelle Bourdeau, Ruth Casey, Frédéric Castinetti, Roderick Clifton‐Bligh, Eleonora P.M. Corssmit, Ronald R. de Krijger, Jaydira Del Rivero, Graeme Eisenhofer, Hans K. Ghayee, Anne‐Paule Gimenez‐Roqueplo, Ashley Grossman, Alessio Impériale, Jeroen C. Jansen, Abhishek Jha, Michiel N. Kerstens, Henricus P. M. Kunst, James K. Liu, Eamonn R. Maher, Daniele Marchioni, Leilani B Mercado-Asis, Özgür Mete, Mitsuhide Naruse, Naris Nilubol, Neeta Pandit‐Taskar, F. Sébag, Akiyo Tanabe, J Widimský, Leah Meuter, Jacques W.M. Lenders, Karel Pacák - The Lancet Diabetes & Endocrinology 2023 cited by 87
- Hypoxia Inducible Factor-α Binding and Ubiquitylation by the von Hippel-Lindau Tumor Suppressor Protein
Authors: Matthew E. Cockman, Norma Masson, David R. Mole, Panu Jaakkola, Gin-Wen Chang, Steven C. Clifford, Eamonn R. Maher, Christopher W. Pugh, Peter J. Ratcliffe, Patrick H. Maxwell - Journal of Biological Chemistry 2000 cited by 1,047
- Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome
Authors: Michael L. Nickerson, Michelle B. Warren, Jorge R. Toro, Vera Y. Matrosova, G.M. Glenn, Maria L. Turner, Paul H. Duray, Maria J. Merino, Peter L. Choyke, Christian P. Pavlovich, Nirmala Sharma, McClellan M. Walther, David J. Munroe, R Hill, Eamonn R. Maher, Cheryl R. Greenberg, Michael I. Lerman, W. Marston Linehan, Berton Zbar, Laura S. Schmidt - Cancer Cell 2002 cited by 937
- Hereditary leiomyomatosis and renal cell cancer (HLRCC): renal cancer risk, surveillance and treatment
Authors: Fred H. Menko, Eamonn R. Maher, Laura S. Schmidt, Lindsay Middelton, Kristiina Aittomäki, Ian Tomlinson, Stéphane Richard, W. Marston Linehan - Familial Cancer 2014 cited by 358
- von Hippel–Lindau disease: A clinical and scientific review
Authors: Eamonn R. Maher, Hartmut P.H. Neumann, Stéphane Richard - European Journal of Human Genetics 2011 cited by 720
- Management of phaeochromocytoma and paraganglioma in patients with germline SDHB pathogenic variants: an international expert Consensus statement
Authors: David Taïeb, Svenja Nölting, Nancy D. Perrier, Martin Faßnacht, Jorge A. Carrasquillo, Ashley Grossman, Roderick Clifton‐Bligh, George B. Wanna, Zachary G. Schwam, Laurence Amar, Isabelle Bourdeau, Ruth Casey, Joakim Crona, Cheri Deal, Jaydira Del Rivero, Quan‐Yang Duh, Graeme Eisenhofer, Tito Fojo, Hans K. Ghayee, Anne‐Paule Gimenez‐Roqueplo, Anthony J. Gill, Rodney J. Hicks, Alessio Impériale, Abhishek Jha, Michiel N. Kerstens, Ronald R. de Krijger, André Lacroix, Ivica Lazúrová, Frank I. Lin, Charlotte Lussey‐Lepoutre, Eamonn R. Maher, Özgür Mete, Mitsuhide Naruse, Naris Nilubol, Mercedes Robledo, F. Sébag, Nalini S. Shah, Akiyo Tanabe, Geoffrey B. Thompson, Henri Timmers, J Widimský, William J. Young, Leah Meuter, Jacques W.M. Lenders, Karel Pacák - Nature Reviews Endocrinology 2023 cited by 90
- Health and population effects of rare gene knockouts in adult humans with related parents
Authors: Vagheesh M. Narasimhan, Karen A. Hunt, Dan Mason, Christopher L. Baker, Konrad J. Karczewski, Michael R. Barnes, Anthony Barnett, Chris Bates, Srikanth Bellary, Nicholas Bockett, Kristina Giorda, Chris Griffiths, Harry Hemingway, Zhilong Jia, M. A. Kelly, Hajrah Khawaja, Monkol Lek, Shane McCarthy, Rosie McEachan, Anne O’Donnell‐Luria, Kenneth Paigen, Constantinos A. Parisinos, Eamonn Sheridan, Laura Southgate, Louise Tee, Mark Thomas, Yali Xue, Michael Schnall-Levin, Petko M. Petkov, Chris Tyler‐Smith, Eamonn R. Maher, Richard C. Trembath, Daniel G. MacArthur, John Wright, Richard Durbin, David A. van Heel - Science 2016 cited by 313
