Colin A Johnson

ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 15

Top Venues

Nature communications

Proceedings of the National Academy of Sciences of the United States of America

European journal of human genetics : EJHG

Journal of medical genetics

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

Publications

Robert Atkinson, Maria Georgiou, Chunbo Yang, Katarzyna Szymanska, Albert Lahat, Elton Jóse Rosas Vasconcelos, Yanlong Ji, Marina Moya Molina, Joseph Collin, Rachel Queen, Birthe Dorgau, Avril Watson, Marzena Kurzawa-Akanbi, Ross Laws, Abhijit Saxena, Chia Shyan Beh, Chileleko Siachisumo, Franziska Goertler, Magdalena Karwatka, Tracey Davey, Chris F Inglehearn, Martin McKibbin, Reinhard Lührmann, David H Steel, David J Elliott, Lyle Armstrong, Henning Urlaub, Robin R Ali, Sushma-Nagaraja Grellscheid, Colin A Johnson, Sina Mozaffari-Jovin, Majlinda Lako
PRPF8-mediated dysregulation of hBrr2 helicase disrupts human spliceosome kinetics and 5´-splice-site selection causing tissue-specific defects. Nature communications 15 (1) (2024)
Robert Atkinson, Maria Georgiou, Chunbo Yang, Katarzyna Szymanska, Albert Lahat, Elton Jóse Rosas Vasconcelos, Yanlong Ji, Marina Moya Molina, Joseph Collin, Rachel Queen, Birthe Dorgau, Avril Watson, Marzena Kurzawa-Akanbi, Ross Laws, Abhijit Saxena, Chia Shyan Beh, Chileleko Siachisumo, Franziska Goertler, Magdalena Karwatka, Tracey Davey, Chris F Inglehearn, Martin McKibbin, Reinhard Lührmann, David H Steel, David J Elliott, Lyle Armstrong, Henning Urlaub, Robin R Ali, Sushma-Nagaraja Grellscheid, Colin A Johnson, Sina Mozaffari-Jovin, Majlinda Lako
PRPF8-mediated dysregulation of hBrr2 helicase disrupts human spliceosome kinetics and 5´-splice-site selection causing tissue-specific defects. Nature communications 15 (1) (2024)
Robert Atkinson, Maria Georgiou, Chunbo Yang, Katarzyna Szymanska, Albert Lahat, Elton Jóse Rosas Vasconcelos, Yanlong Ji, Marina Moya Molina, Joseph Collin, Rachel Queen, Birthe Dorgau, Avril Watson, Marzena Kurzawa-Akanbi, Ross Laws, Abhijit Saxena, Chia Shyan Beh, Chileleko Siachisumo, Franziska Goertler, Magdalena Karwatka, Tracey Davey, Chris F Inglehearn, Martin McKibbin, Reinhard Lührmann, David H Steel, David J Elliott, Lyle Armstrong, Henning Urlaub, Robin R Ali, Sushma-Nagaraja Grellscheid, Colin A Johnson, Sina Mozaffari-Jovin, Majlinda Lako
PRPF8-mediated dysregulation of hBrr2 helicase disrupts human spliceosome kinetics and 5´-splice-site selection causing tissue-specific defects. Nature communications 15 (1) (2024)
Robert Atkinson, Maria Georgiou, Chunbo Yang, Katarzyna Szymanska, Albert Lahat, Elton Jóse Rosas Vasconcelos, Yanlong Ji, Marina Moya Molina, Joseph Collin, Rachel Queen, Birthe Dorgau, Avril Watson, Marzena Kurzawa-Akanbi, Ross Laws, Abhijit Saxena, Chia Shyan Beh, Chileleko Siachisumo, Franziska Goertler, Magdalena Karwatka, Tracey Davey, Chris F Inglehearn, Martin McKibbin, Reinhard Lührmann, David H Steel, David J Elliott, Lyle Armstrong, Henning Urlaub, Robin R Ali, Sushma-Nagaraja Grellscheid, Colin A Johnson, Sina Mozaffari-Jovin, Majlinda Lako
PRPF8-mediated dysregulation of hBrr2 helicase disrupts human spliceosome kinetics and 5´-splice-site selection causing tissue-specific defects. Nature communications 15 (1) (2024)
Ida Signe Bohse Larsen, Lorenzo Povolo, Luping Zhou, Weihua Tian, Kasper Johansen Mygind, John Hintze, Chen Jiang, Verity Hartill, Katrina Prescott, Colin A Johnson, Sureni V Mullegama, Allyn McConkie-Rosell, Marie McDonald, Lars Hansen, Sergey Y Vakhrushev, Katrine T Schjoldager, Henrik Clausen, Thomas Worzfeld, Hiren Jitendra Joshi, Adnan Halim
The SHDRA syndrome-associated gene TMEM260 encodes a protein-specific O-mannosyltransferase. Proceedings of the National Academy of Sciences of the United States of America 120 (21) (2023)
Ida Signe Bohse Larsen, Lorenzo Povolo, Luping Zhou, Weihua Tian, Kasper Johansen Mygind, John Hintze, Chen Jiang, Verity Hartill, Katrina Prescott, Colin A Johnson, Sureni V Mullegama, Allyn McConkie-Rosell, Marie McDonald, Lars Hansen, Sergey Y Vakhrushev, Katrine T Schjoldager, Henrik Clausen, Thomas Worzfeld, Hiren Jitendra Joshi, Adnan Halim
The SHDRA syndrome-associated gene TMEM260 encodes a protein-specific O-mannosyltransferase. Proceedings of the National Academy of Sciences of the United States of America 120 (21) (2023)
Ida Signe Bohse Larsen, Lorenzo Povolo, Luping Zhou, Weihua Tian, Kasper Johansen Mygind, John Hintze, Chen Jiang, Verity Hartill, Katrina Prescott, Colin A Johnson, Sureni V Mullegama, Allyn McConkie-Rosell, Marie McDonald, Lars Hansen, Sergey Y Vakhrushev, Katrine T Schjoldager, Henrik Clausen, Thomas Worzfeld, Hiren Jitendra Joshi, Adnan Halim
The SHDRA syndrome-associated gene TMEM260 encodes a protein-specific O-mannosyltransferase. Proceedings of the National Academy of Sciences of the United States of America 120 (21) (2023)
Sunayna Best, Chris F Inglehearn, Christopher Mark Watson, Carmel Toomes, Gabrielle Wheway, Colin A Johnson
Unlocking the potential of the UK 100,000 Genomes Project-lessons learned from analysis of the "Congenital Malformations caused by Ciliopathies" cohort. American journal of medical genetics. Part C, Seminars in medical genetics 190 (1) (2022)
Sunayna Best, Jing Yu, Jenny Lord, Matthew Roche, Christopher Mark Watson, Roel P J Bevers, Alex Stuckey, Savita Madhusudhan, Rosalyn Jewell, Sanjay M Sisodiya, Siying Lin, Stephen Turner, Hannah Robinson, Joseph S Leslie, Emma Baple, null null, Carmel Toomes, Chris Inglehearn, Gabrielle Wheway, Colin A Johnson
Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach. Journal of medical genetics 59 (12) (2022)
Katarzyna Szymanska, Karsten Boldt, Clare V Logan, Matthew Adams, Philip A Robinson, Marius Ueffing, Elton Zeqiraj, Gabrielle Wheway, Colin A Johnson
Regulation of canonical Wnt signalling by the ciliopathy protein MKS1 and the E2 ubiquitin-conjugating enzyme UBE2E1. eLife 11 (2022)
Marilena Elpidorou, James A Poulter, Katarzyna Szymanska, Wia Baron, Katrin Junger, Karsten Boldt, Marius Ueffing, Lydia Green, John H Livingston, Eammon G Sheridan, Colin A Johnson
Missense mutation of MAL causes a rare leukodystrophy similar to Pelizaeus-Merzbacher disease. European journal of human genetics : EJHG 30 (7) (2022)
Marilena Elpidorou, Sunayna Best, James A Poulter, Verity Hartill, Emma Hobson, Eamonn Sheridan, Colin A Johnson
Novel loss-of-function mutation in HERC2 is associated with severe developmental delay and paediatric lethality. Journal of medical genetics 58 (5) (2020)
Zakia A Abdelhamed, Dina I Abdelmottaleb, Mohammed E El-Asrag, Subaashini Natarajan, Gabrielle Wheway, Chris F Inglehearn, Carmel Toomes, Colin A Johnson
The ciliary Frizzled-like receptor Tmem67 regulates canonical Wnt/β-catenin signalling in the developing cerebellum via Hoxb5. Scientific reports 9 (1) (2019)
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 F Scheel, Brunella Franco, Dorus A Mans, Erwin van Wijk, François Képès, Gisela G Slaats, Grischa Toedt, Hannie Kremer, Heymut Omran, Katarzyna Szymanska, 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, Victor Hernandez, Martijn A Huynen
CiliaCarta: An integrated and validated compendium of ciliary genes. PloS one 14 (5) (2019)
Elisa Molinari, Eva Decker, Holly Mabillard, James Tellez, Shalabh Srivastava, Shreya Raman, Katrina Wood, Caroline Kempf, Sumaya Alkanderi, Simon A Ramsbottom, Colin G Miles, Colin A Johnson, Friedhelm Hildebrandt, Carsten Bergmann, John Andrew Sayer
Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants. European journal of human genetics : EJHG 26 (12) (2018)

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Publication Activity (10 Years)

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Colin A Johnson