Colin A. Johnson
1990–2025 年に発表
- 100
- 論文数
- 19,701
- 被引用数
- 78
- h 指数
- 97
- i10 指数
被引用数
引用元
国・地域
機関
分野
- Biochemistry, Genetics and Molecular Biology72.1%
- Medicine18.5%
- Neuroscience4.4%
- Immunology and Microbiology1.3%
- Agricultural and Biological Sciences1.2%
- Psychology0.5%
- その他2%
トピック
- 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%
- その他73%
共著者
- 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
全論文
- Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex
著者: Xinsheng Nan, Huck‐Hui Ng, Colin A. Johnson, Carol D. Laherty, Bryan M. Turner, Robert N. Eisenman, Adrian Bird - Nature 1998 被引用: 3,444
- Content validity of the EORTC quality of life questionnaire QLQ-C30 for use in cancer
著者: 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 被引用: 157
- The Cilium: Cellular Antenna and Central Processing Unit
著者: Jarema Malicki, Colin A. Johnson - Trends in Cell Biology 2016 被引用: 374
- Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa
著者: 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 被引用: 238
- PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron
著者: 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 被引用: 538
- Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling
著者: 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 被引用: 377
- IFT27 Links the BBSome to IFT for Maintenance of the Ciliary Signaling Compartment
著者: 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 被引用: 270
- CiliaCarta: An integrated and validated compendium of ciliary genes
著者: 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 被引用: 175
- An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes
著者: 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 被引用: 250
- Mutations in Radial Spoke Head Protein Genes RSPH9 and RSPH4A Cause Primary Ciliary Dyskinesia with Central-Microtubular-Pair Abnormalities
著者: 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 被引用: 346
- Mutations in TJP2 cause progressive cholestatic liver disease
著者: 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 被引用: 293
- Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling
著者: 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 被引用: 398
- IDHwt glioblastomas can be stratified by their transcriptional response to standard treatment, with implications for targeted therapy
著者: 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 被引用: 22
- Pre-mRNA Processing Factors and Retinitis Pigmentosa: RNA Splicing and Beyond
著者: 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 被引用: 46
- Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome
著者: 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 被引用: 399
- Planar Cell Polarity Acts Through Septins to Control Collective Cell Movement and Ciliogenesis
著者: 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 被引用: 351
- Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
著者: 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 被引用: 285
- Primary Cilia, Ciliogenesis and the Actin Cytoskeleton: A Little Less Resorption, A Little More Actin Please
著者: Claire E. L. Smith, Alice V. R. Lake, Colin A. Johnson - Frontiers in Cell and Developmental Biology 2020 被引用: 96
- The SHDRA syndrome-associated gene TMEM260 encodes a protein-specific O-mannosyltransferase
著者: 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 被引用: 25
- Characterizing the morbid genome of ciliopathies
著者: 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 被引用: 165
- Meckel–Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances
著者: Verity Hartill, Katarzyna Szymańska, Saghira Malik Sharif, Gabrielle Wheway, Colin A. Johnson - Frontiers in Pediatrics 2017 被引用: 157
- TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome
著者: 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 被引用: 140
- A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct fromKabuki syndrome
著者: 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 被引用: 70
- Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly
著者: 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 被引用: 59
