Colin A. Johnson

Active 1990–2025

100
Papers
19,701
Citations
78
h-index
97
i10-index

Citations

Citations per year for Colin A. Johnson1979: 1 citations1990: 3 citations1991: 8 citations1992: 11 citations1993: 8 citations1994: 4 citations1995: 2 citations1996: 1 citations1997: 5 citations1998: 18 citations1999: 77 citations2000: 157 citations2001: 164 citations2002: 138 citations2003: 134 citations2004: 96 citations2005: 127 citations2006: 112 citations2007: 140 citations2008: 202 citations2009: 256 citations2010: 249 citations2011: 316 citations2012: 291 citations2013: 304 citations2014: 234 citations2015: 229 citations2016: 252 citations2017: 233 citations2018: 179 citations2019: 581 citations2020: 575 citations2021: 603 citations2022: 385 citations2023: 237 citations2024: 376 citations2025: 172 citations2026: 1 citations1980–1989: no citations, so these years are not shown

Citation sources

Countries

World map of the countries and regions citing this authorUnited States: 2,478 citing papers, 27.2% of this breakdownUnited Kingdom: 928 citing papers, 10.2% of this breakdownGermany: 581 citing papers, 6.4% of this breakdownChina: 492 citing papers, 5.4% of this breakdownFrance: 439 citing papers, 4.8% of this breakdownCanada: 430 citing papers, 4.7% of this breakdownItaly: 374 citing papers, 4.1% of this breakdownJapan: 311 citing papers, 3.4% of this breakdownNetherlands: 305 citing papers, 3.4% of this breakdownAustralia: 212 citing papers, 2.3% of this breakdownSpain: 206 citing papers, 2.3% of this breakdownSwitzerland: 166 citing papers, 1.8% of this breakdown
0%27.2%Other 24%

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

All papers

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  1. Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex

    Authors: , , , , , , - Nature 1998 cited by 3,444

  2. Content validity of the EORTC quality of life questionnaire QLQ-C30 for use in cancer

    Authors: , , , , , , , , , , , , , , , , , - European Journal of Cancer 2022 cited by 157

  3. The Cilium: Cellular Antenna and Central Processing Unit

    Authors: , - Trends in Cell Biology 2016 cited by 374

  4. Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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

  5. PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , - Nature Genetics 2006 cited by 538

  6. Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Caroline A. Sewry, Matthew E. Hurles, Rosario Rizzuto, Michael R. Duchen, Francesco Muntoni, Eamonn Sheridan - Nature Genetics 2013 cited by 377

  7. IFT27 Links the BBSome to IFT for Maintenance of the Ciliary Signaling Compartment

    Authors: , , , , , , , , , , - Developmental Cell 2014 cited by 270

  8. CiliaCarta: An integrated and validated compendium of ciliary genes

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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

  9. An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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

  10. Mutations in Radial Spoke Head Protein Genes RSPH9 and RSPH4A Cause Primary Ciliary Dyskinesia with Central-Microtubular-Pair Abnormalities

    Authors: , , , , , , , , , , , , , , , , , , , , , , , - The American Journal of Human Genetics 2009 cited by 346

  11. Mutations in TJP2 cause progressive cholestatic liver disease

    Authors: , , , , , , , , , , , , , , , , , , , , , - Nature Genetics 2014 cited by 293

  12. Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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

  13. IDHwt glioblastomas can be stratified by their transcriptional response to standard treatment, with implications for targeted therapy

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , - Genome biology 2024 cited by 22

  14. Pre-mRNA Processing Factors and Retinitis Pigmentosa: RNA Splicing and Beyond

    Authors: , , , , , , , , , , - Frontiers in Cell and Developmental Biology 2021 cited by 46

  15. Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , - The American Journal of Human Genetics 2008 cited by 399

  16. Planar Cell Polarity Acts Through Septins to Control Collective Cell Movement and Ciliogenesis

    Authors: , , , , , , , , , , - Science 2010 cited by 351

  17. Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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

  18. Primary Cilia, Ciliogenesis and the Actin Cytoskeleton: A Little Less Resorption, A Little More Actin Please

    Authors: , , - Frontiers in Cell and Developmental Biology 2020 cited by 96

  19. The SHDRA syndrome-associated gene TMEM260 encodes a protein-specific O-mannosyltransferase

    Authors: , , , , , , , , , , , , , , , , , , , - National Academy of Sciences, Proceedings of the National Academy of Sciences 2023 cited by 25

  20. Characterizing the morbid genome of ciliopathies

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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

  21. Meckel–Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances

    Authors: , , , , - Frontiers in Pediatrics 2017 cited by 157

  22. TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome

    Authors: , , , , , , , , , , , , , , , , , , , , , , , - Nature Cell Biology 2015 cited by 140

  23. A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct fromKabuki syndrome

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Giuseppe Merla, Adam Stevens, Colin A. Johnson, Siddharth Banka - Genetics in Medicine 2020 cited by 70

  24. Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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