Colin A. Johnson
Active 1990–2025
- 100
- Papers
- 19,701
- Citations
- 78
- h-index
- 97
- i10-index
Citations
Citation sources
Countries
Institutions
Fields
- Biochemistry, Genetics and Molecular Biology72.1%
- Medicine18.5%
- Neuroscience4.4%
- Immunology and Microbiology1.3%
- Agricultural and Biological Sciences1.2%
- Psychology0.5%
- Other2%
Topics
- Epigenetics and DNA Methylation8%
- Genetic and Kidney Cyst Diseases7.6%
- Genetics and Neurodevelopmental Disorders3.8%
- Renal and related cancers2.7%
- Hedgehog Signaling Pathway Studies2.5%
- RNA modifications and cancer2.4%
- Other73%
Coauthors
- Clare V. Logan26
- Katarzyna Szymańska22
- David Parry18
- Tania Attié‐Bitach13
- Chris F. Inglehearn12
- Gabrielle Wheway11
- Eamonn Sheridan9
- James A. Poulter9
- Erica E. Davis8
- Friedhelm Hildebrandt8
- Richard C. Trembath8
- Eamonn R. Maher7
- Graham R. Taylor7
- Neil V. Morgan7
- Nicholas Katsanis7
- Zakia A. Abdelhamed7
- Bryan M. Turner6
- Carmel Toomes6
- Francesco Brancati6
- Jennifer L. Silhavy6
- Joanne Morgan6
- Lihadh Al‐Gazali6
- Martin McKibbin6
- Matthew Adams6
All papers
- Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex
Authors: Xinsheng Nan, Huck‐Hui Ng, Colin A. Johnson, Carol D. Laherty, Bryan M. Turner, Robert N. Eisenman, Adrian Bird - Nature 1998 cited by 3,444
- Content validity of the EORTC quality of life questionnaire QLQ-C30 for use in cancer
Authors: Kim Cocks, Jane R. Wells, Colin A. Johnson, Heike Schmidt, Michael Koller, Simone Oerlemans, Galina Velikova, Monica Pinto, Krzysztof A. Tomaszewski, Neil K. Aaronson, Elizabeth Exall, Chelsea Finbow, Deborah Fitzsimmons, Laura Grant, Mogens Grøenvold, Chloe Tolley, Sally Wheelwright, Andrew Bottomley - European Journal of Cancer 2022 cited by 157
- The Cilium: Cellular Antenna and Central Processing Unit
Authors: Jarema Malicki, Colin A. Johnson - Trends in Cell Biology 2016 cited by 374
- Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa
Authors: Adriana Buskin, Lili Zhu, Valeria Chichagova, Basudha Basu, Sina Mozaffari‐Jovin, David Dolan, Alastair Droop, Joseph Collin, Revital Bronstein, Sudeep Mehrotra, Michael H. Farkas, Gerrit Hilgen, Kathryn White, Kuan‐Ting Pan, Achim Treumann, Dean Hallam, Katarzyna Bialas, Git Chung, Carla Mellough, Yuchun Ding, Natalio Krasnogor, Stefan Przyborski, Simon Zwolinski, Jumana Y. Al‐Aama, Sameer Alharthi, Yaobo Xu, Gabrielle Wheway, Katarzyna Szymańska, Martin McKibbin, Chris F. Inglehearn, David J. Elliott, Susan Lindsay, Robin R. Ali, David Steel, Lyle Armstrong, Evelyne Sernagor, Henning Urlaub, Eric A. Pierce, Reinhard Lührmann, Sushma-Nagaraja Grellscheid, Colin A. Johnson, Majlinda Lako - Nature Communications 2018 cited by 238
- 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
- Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling
Authors: Clare V. Logan, György Szabadkai, Jenny A. Sharpe, David Parry, Silvia Torelli, Anne‐Marie Childs, Marjolein Kriek, Rahul Phadke, Colin A. Johnson, Nicola Roberts, David T. Bonthron, Karen Pysden, Tamieka Whyte, Iulia Munteanu, A. Reghan Foley, Gabrielle Wheway, Katarzyna Szymańska, Subaashini Natarajan, Zakia A. Abdelhamed, Joanne Morgan, H. Roper, Gijs W.E. Santen, E. Niks, W. Ludo van der Pol, Dick Lindhout, Anna Raffaello, Diego De Stefani, Johan T. den Dunnen, Yu Sun, Ieke B. Ginjaar, Caroline A. Sewry, Matthew E. Hurles, Rosario Rizzuto, Michael R. Duchen, Francesco Muntoni, Eamonn Sheridan - Nature Genetics 2013 cited by 377
- IFT27 Links the BBSome to IFT for Maintenance of the Ciliary Signaling Compartment
Authors: Thibaut Eguether, Jovenal T. San Agustin, Brian T. Keady, Julie A. Jonassen, Yinwen Liang, Richard Francis, Kimimasa Tobita, Colin A. Johnson, Zakia A. Abdelhamed, Cecilia Lo, Gregory J. Pazour - Developmental Cell 2014 cited by 270
- CiliaCarta: An integrated and validated compendium of ciliary genes
Authors: Teunis J. P. van Dam, Julie Kennedy, Robin van der Lee, Erik de Vrieze, Kirsten A. Wunderlich, Suzanne Rix, Gerard W. Dougherty, Nils J. Lambacher, Chunmei Li, Victor L. Jensen, Michel R. Leroux, Rim Hjeij, Nicola Horn, Yves Texier, Yasmin Wissinger, Jeroen van Reeuwijk, Gabrielle Wheway, Barbara Knapp, Jan Frederik Scheel, Brunella Franco, Dorus A. Mans, Erwin van Wijk, François Képès, Gisela G. Slaats, Grischa Toedt, Hannie Kremer, Heymut Omran, Katarzyna Szymańska, Konstantinos Koutroumpas, Marius Ueffing, Thanh-Minh T. Nguyen, Stef J.F. Letteboer, Machteld M. Oud, Sylvia E. C. van Beersum, Miriam Schmidts, Philip L. Beales, Qianhao Lu, Rachel H. Giles, Radek Szklarczyk, Robert B. Russell, Toby J. Gibson, Colin A. Johnson, Oliver E. Blacque, Uwe Wolfrum, Karsten Boldt, Ronald Roepman, Víctor Hernández-Hernández, Martijn A. Huynen - PLoS ONE 2019 cited by 175
- An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes
Authors: Gabrielle Wheway, Miriam Schmidts, Dorus A. Mans, Katarzyna Szymańska, Thanh-Minh T. Nguyen, Hilary Racher, Ian G. Phelps, Grischa Toedt, Julie Kennedy, Kirsten A Wunderlich, Nasrin Sorusch, Zakia A. Abdelhamed, Subaashini Natarajan, Warren Herridge, Jeroen van Reeuwijk, Nicola Horn, Karsten Boldt, David Parry, Stef J.F. Letteboer, Susanne Roosing, Matthew Adams, Sandra Bell, Jacquelyn Bond, J. William Higgins, Ewan E. Morrison, Darren C. Tomlinson, Gisela G. Slaats, Teunis J. P. van Dam, Lijia Huang, Kristin Kessler, Andreas Gießl, Clare V. Logan, Evan A. Boyle, Jay Shendure, Shamsa Anazi, Mohammed A. Aldahmesh, Selwa Al Hazzaa, Robert A. Hegele, Carole Ober, Patrick Frosk, Aizeddin Mhanni, Bernard N. Chodirker, Albert E. Chudley, Ryan E. Lamont, François P. Bernier, Chandree L. Beaulieu, Paul M. Gordon, Richard T. Pon, Clem Donahue, A. James Barkovich, Louis Wolf, Carmel Toomes, Christian T. Thiel, Kym M. Boycott, Martin McKibbin, Chris F. Inglehearn, Fiona Stewart, Heymut Omran, Martijn A. Huynen, Panagiotis I. Sergouniotis, Fowzan S. Alkuraya, Jillian S. Parboosingh, A. Micheil Innes, Colin E. Willoughby, Rachel H. Giles, Andrew R. Webster, Marius Ueffing, Oliver E. Blacque, Joseph G. Gleeson, Uwe Wolfrum, Philip L. Beales, Toby J. Gibson, Dan Doherty, Hannah M. Mitchison, Ronald Roepman, Colin A. Johnson - Nature Cell Biology 2015 cited by 250
- Mutations in Radial Spoke Head Protein Genes RSPH9 and RSPH4A Cause Primary Ciliary Dyskinesia with Central-Microtubular-Pair Abnormalities
Authors: Victoria Castleman, Leila Romio, Rahul Chodhari, Robert A. Hirst, Sandra C. de Castro, Keith A. Parker, Patricia Ybot‐González, Richard D. Emes, Stephen W. Wilson, Colin Wallis, Colin A. Johnson, René J. Herrera, Andrew Rutman, Mellisa Dixon, Amelia Shoemark, Andrew Bush, Claire Hogg, R. Mark Gardiner, Orit Reish, Nicholas D. E. Greene, Christopher O’Callaghan, Saul Purton, Eddie M.K. Chung, Hannah M. Mitchison - The American Journal of Human Genetics 2009 cited by 346
- Mutations in TJP2 cause progressive cholestatic liver disease
Authors: Melissa Sambrotta, Sandra Strautnieks, Efterpi Papouli, Peter Rushton, Barnaby Clark, David Parry, Clare V. Logan, Lucy J. Newbury, Binita M. Kamath, Simon C. Ling, Tassos Grammatikopoulos, Bart Wagner, John C. Magee, Ronald J. Sokol, Giorgina Mieli‐Vergani, Joshua D. Smith, Colin A. Johnson, Patricia McClean, Michael A. Simpson, Alexander S. Knisely, Laura N. Bull, Richard J. Thompson - Nature Genetics 2014 cited by 293
- Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling
Authors: Moumita Chaki, Rannar Airik, Amiya K. Ghosh, Rachel H. Giles, Rui Chen, Gisela G. Slaats, Hui Wang, Toby W. Hurd, Weibin Zhou, Andrew Cluckey, Heon Yung Gee, Gokul Ramaswami, Chen‐Jei Hong, Bruce A. Hamilton, Igor Červenka, Ranjani Sri Ganji, Vı́tězslav Bryja, Heleen H. Arts, Jeroen van Reeuwijk, Machteld M. Oud, Stef J.F. Letteboer, Ronald Roepman, Hervé Husson, Oxana Ibraghimov‐Beskrovnaya, Takayuki Yasunaga, Gerd Walz, Lorraine Eley, John A. Sayer, Bernhard Schermer, Max C. Liebau, Thomas Benzing, Stéphanie Le Corre, Iain A. Drummond, Sabine Janssen, Susan J. Allen, S. Natarajan, John F. O’Toole, Massimo Attanasio, Sophie Saunier, Corinne Antignac, Robert K. Koenekoop, Huanan Ren, Irma López, Ahmet Nayır, Corinne Stoetzel, Hélène Dollfus, Rustin Massoudi, Joseph G. Gleeson, Sharon Andreoli, D Doherty, Anna Lindstrad, Christelle Golzio, Nicholas Katsanis, Lars Pape, Emad B. Abboud, Ali A. Al‐Rajhi, Richard A. Lewis, Heymut Omran, Eva Y.-H.P. Lee, Shaohui Wang, JoAnn Sekiguchi, Rudel A. Saunders, Colin A. Johnson, Elizabeth Garner, Katja Vanselow, Jens Andersen, Joseph Shlomai, Gudrun Nürnberg, Peter Nürnberg, Shawn Levy, Agata Smogorzewska, Edgar A. Otto, Friedhelm Hildebrandt - Cell 2012 cited by 398
- IDHwt glioblastomas can be stratified by their transcriptional response to standard treatment, with implications for targeted therapy
Authors: Georgette Tanner, Rhiannon Barrow, Shoaib Ajaib, Muna Al-Jabri, Nazia Ahmed, Steven Pollock, Martina Finetti, Nora Rippaus, Alexander Bruns, Khaja Syed, James A. Poulter, Laura Matthews, Thomas A. Hughes, Erica Wilson, Colin A. Johnson, Frederick S. Varn, Anke Brüning‐Richardson, Catherine Hogg, Alastair Droop, Arief Gusnanto, Matthew A. Care, Luisa Cutillo, David R. Westhead, Susan Short, Michael D. Jenkinson, Andrew Brodbelt, Aruna Chakrabarty, Azzam Ismail, Roel G.W. Verhaak, Lucy F. Stead - Genome biology 2024 cited by 22
- Pre-mRNA Processing Factors and Retinitis Pigmentosa: RNA Splicing and Beyond
Authors: Chunbo Yang, Μαρία Γεωργίου, Robert Atkinson, Joseph Collin, Jumana Y. Al‐Aama, Sushma Nagaraja‐Grellscheid, Colin A. Johnson, Robin R. Ali, Lyle Armstrong, Sina Mozaffari‐Jovin, Majlinda Lako - Frontiers in Cell and Developmental Biology 2021 cited by 46
- Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome
Authors: Vincent Cantagrel, Jennifer L. Silhavy, Stephanie Bielas, Dominika Swistun, Sarah Marsh, Julien Bertrand, Sophie Audollent, Tania Attié‐Bitach, Kenton R. Holden, William B. Dobyns, David Traver, Lihadh Al‐Gazali, Bassam R. Ali, Tom H. Lindner, Tamara Caspary, Edgar A. Otto, Friedhelm Hildebrandt, Ian A. Glass, Clare V. Logan, Colin A. Johnson, Christopher Bennett, Francesco Brancati, Enza Maria Valente, C. Geoffrey Woods, Joseph G. Gleeson - The American Journal of Human Genetics 2008 cited by 399
- Planar Cell Polarity Acts Through Septins to Control Collective Cell Movement and Ciliogenesis
Authors: Su Kyoung Kim, Asako Shindo, Tae Joo Park, Edwin C. Oh, Srimoyee Ghosh, Ryan S. Gray, Richard A. Lewis, Colin A. Johnson, Tania Attié‐Bitach, Nicholas Katsanis, John B. Wallingford - Science 2010 cited by 351
- Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
Authors: Enza Maria Valente, Clare V. Logan, Soumaya Mougou-Zerelli, Jeong Ho Lee, Jennifer L. Silhavy, Francesco Brancati, Miriam Iannicelli, Lorena Travaglini, Sveva Romani, Barbara Illi, Matthew Adams, Katarzyna Szymańska, Annalisa Mazzotta, Ji Eun Lee, Jerlyn C. Tolentino, Dominika Swistun, Carmelo Salpietro, Carmelo Fede, Stacey Gabriel, Carsten Russ, Kristian Cibulskis, Carrie Sougnez, Friedhelm Hildebrandt, Edgar A. Otto, Susanne Held, Bill H. Diplas, Erica E. Davis, Mario Mikula, Charles M. Strom, Bruria Ben‐Zeev, Dorit Lev, T. Sagie, Marina Michelson, Yuval Yaron, Amanda Krause, Eugen Boltshauser, Nadia Elkhartoufi, J. Roume, Stavit A. Shalev, Arnold Münnich, Sophie Saunier, Chris F. Inglehearn, Ali Saâd, Adila Al‐Kindy, Sophie Thomas, Michel Vekemans, Bruno Dallapiccola, Nicholas Katsanis, Colin A. Johnson, Tania Attié‐Bitach, Joseph G. Gleeson - Nature Genetics 2010 cited by 285
- Primary Cilia, Ciliogenesis and the Actin Cytoskeleton: A Little Less Resorption, A Little More Actin Please
Authors: Claire E. L. Smith, Alice V. R. Lake, Colin A. Johnson - Frontiers in Cell and Developmental Biology 2020 cited by 96
- The SHDRA syndrome-associated gene TMEM260 encodes a protein-specific O-mannosyltransferase
Authors: Ida Signe Bohse Larsen, Lorenzo Povolo, Luping Zhou, Weihua Tian, Kasper Johansen Mygind, John Hintze, Jiang Chen, Verity Hartill, Katrina Prescott, Colin A. Johnson, Sureni V. Mullegama, Allyn McConkie‐Rosell, Marie McDonald, Lars Hestbjerg Hansen, Sergey Y. Vakhrushev, Katrine T. Schjoldager, Henrik Clausen, Thomas Worzfeld, Hiren J. Joshi, Adnan Halim - National Academy of Sciences, Proceedings of the National Academy of Sciences 2023 cited by 25
- Characterizing the morbid genome of ciliopathies
Authors: Ciliopathy WorkingGroup, Ranad Shaheen, Katarzyna Szymańska, Basudha Basu, Nisha Patel, Nour Ewida, Eissa Faqeih, Amal Al Hashem, Nada Derar, Hadeel Alsharif, Mohammed A. Aldahmesh, Anas M. Alazami, Mais Hashem, Niema Ibrahim, Firdous Abdulwahab, Rawda Sonbul, Hisham Alkuraya, Maha Alnemer, Saeed Al Tala, Muneera Al-Husain, Heba Morsy, Mohammed Zain Seidahmed, Neama Meriki, Mohammed Al‐Owain, Saad AlShahwan, Brahim Tabarki, Mustafa A. Salih, Tariq Faquih, Mohamed El-Kalioby, Marius Ueffing, Karsten Boldt, Clare V. Logan, David Parry, Nada Al Tassan, Dorota Monies, André Mégarbané, Mohamed Abouelhoda, Anason Halees, Colin A. Johnson, Fowzan S. Alkuraya - Genome biology 2016 cited by 165
- Meckel–Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances
Authors: Verity Hartill, Katarzyna Szymańska, Saghira Malik Sharif, Gabrielle Wheway, Colin A. Johnson - Frontiers in Pediatrics 2017 cited by 157
- TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome
Authors: Nils J. Lambacher, Ange‐Line Bruel, Teunis J. P. van Dam, Katarzyna Szymańska, Gisela G. Slaats, Stefanie Kuhns, Gavin McManus, Julie Kennedy, Karl Gaff, Ka Man Wu, Robin van der Lee, Lydie Bürglen, Diane Doummar, Jean‐Baptiste Rivière, Laurence Faivre, Tania Attié‐Bitach, Sophie Saunier, Alistair Curd, Michelle Peckham, Rachel H. Giles, Colin A. Johnson, Martijn A. Huynen, Christel Thauvin‐Robinet, Oliver E. Blacque - Nature Cell Biology 2015 cited by 140
- A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct fromKabuki syndrome
Authors: Sara Cuvertino, Verity Hartill, Alice Colyer, Terence Garner, Nisha Nair, Lihadh Al‐Gazali, Natalie Canham, Víctor Faúndes, Frances Flinter, Jozef Hertecant, Muriel Holder‐Espinasse, Brian R. Jackson, Sally Ann Lynch, Fatima Nadat, Vagheesh M. Narasimhan, Michelle Peckham, Robert Sellers, Marco Seri, Francesca Montanari, Laura Southgate, Gabriella Maria Squeo, Richard C. Trembath, David A. van Heel, Santina Venuto, Daniel Weisberg, Karen Stals, Sian Ellard, Anne Barton, Susan J. Kimber, Eamonn Sheridan, Giuseppe Merla, Adam Stevens, Colin A. Johnson, Siddharth Banka - Genetics in Medicine 2020 cited by 70
- Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly
Authors: Guoliang Chai, A. Dinsmoor Webb, Chen Li, Danny Antaki, Sangmoon Lee, Martin W. Breuss, Nhi Lang, Valentina Stanley, Paula Anzenberg, Xiaoxu Yang, Trevor G Marshall, Patrick M. Gaffney, Klaas J. Wierenga, Brian Hon‐Yin Chung, Mandy Ho‐Yin Tsang, Lynn Pais, Alysia Kern Lovgren, Grace E. VanNoy, Heidi L. Rehm, Ghayda Mirzaa, Eyby Leon, Jullianne Diaz, Alexander Neumann, Arnout P. Kalverda, Iain W. Manfield, David Parry, Clare V. Logan, Colin A. Johnson, David T. Bonthron, Elizabeth M. A. Valleley, Mahmoud Y. Issa, Sherif F. Abdel‐Ghafar, Mohamed S. Abdel‐Hamid, Patricia A. Jennings, Maha S. Zaki, Eamonn Sheridan, Joseph G. Gleeson - Neuron 2020 cited by 59
