Richard C Caswell (R Caswell, Richard Caswell)

ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 32

Top Venues

The Journal of experimental medicine

European journal of human genetics : EJHG

Human molecular genetics

Wellcome open research

Royal Devon and Exeter NHS Foundation Trust

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

Affiliation History

Royal Devon and Exeter NHS Foundation Trust Sep 02 2019

United Kingdom

Healthcare scientist (protein modelling) :: Molecular Genetics

University of Exeter Jun 08 2009 - Aug 31 2019

United Kingdom

Research Associate :: School of Medicine

Publications

Matthew B Johnson, Masato Ogishi, Clara Domingo-Vila, Elisa De Franco, Matthew N Wakeling, Zineb Imane, Brittany Resnick, Evangelia Williams, Rui Pedro Galao, Richard C Caswell, James Russ-Silsby, Yoann Seeleuthner, Darawan Rinchai, Iris Fagniez, Basilin Benson, Matthew J Dufort, Cate Speake, Megan E Smithmyer, Michelle Hudson, Rebecca Dobbs, null null, Zoe Quandt, Andrew T Hattersley, Peng Zhang, Stéphanie Boisson-Dupuis, Mark S Anderson, Jean Laurent Casanova, Timothy I M Tree, Richard D Oram
Human inherited PD-L1 deficiency is clinically and immunologically less severe than PD-1 deficiency. The Journal of experimental medicine 221 (6) (2024)
Thomas W Laver, Matthew N Wakeling, Richard C Caswell, Benjamin Bunce, Daphne Yau, Jonna M E Männistö, Jayne A L Houghton, Jasmin J Hopkins, Michael N Weedon, Vrinda Saraff, Melanie Kershaw, Engela M Honey, Nuala Murphy, Dinesh Giri, Stuart Nath, Ana Tangari Saredo, Indraneel Banerjee, Khalid Hussain, Nick D L Owens, Sarah E. Flanagan
Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements. European journal of human genetics : EJHG 32 (7) (2024)
Thomas W Laver, Matthew N Wakeling, Richard C Caswell, Benjamin Bunce, Daphne Yau, Jonna M E Männistö, Jayne A L Houghton, Jasmin J Hopkins, Michael N Weedon, Vrinda Saraff, Melanie Kershaw, Engela M Honey, Nuala Murphy, Dinesh Giri, Stuart Nath, Ana Tangari Saredo, Indraneel Banerjee, Khalid Hussain, Nick D L Owens, Sarah E. Flanagan
Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements. European journal of human genetics : EJHG (2024)
Alba Kaci, Marie Holm Solheim, Trine Silgjerd, Jorunn Hjaltadottir, Lorentze Hope Hornnes, Janne Molnes, Andre Madsen, Gry Sjøholt, Christine Bellanné-Chantelot, Richard C Caswell, Jørn V Sagen, Pål R Njølstad, Ingvild Aukrust, Lise Bjørkhaug
Functional characterization of HNF4A gene variants identify promoter and cell line specific transactivation effects. Human molecular genetics 33 (10) (2024)
Matthew B Johnson, Masato Ogishi, Clara Domingo-Vila, Elisa De Franco, Matthew N Wakeling, Zineb Imane, Brittany Resnick, Evangelia Williams, Rui Pedro Galao, Richard C Caswell, James Russ-Silsby, Yoann Seeleuthner, Darawan Rinchai, Iris Fagniez, Basilin Benson, Matthew J Dufort, Cate Speake, Megan E Smithmyer, Michelle Hudson, Rebecca Dobbs, null null, Zoe Quandt, Andrew T Hattersley, Peng Zhang, Stéphanie Boisson-Dupuis, Mark S Anderson, Jean Laurent Casanova, Timothy I M Tree, Richard D Oram
Human inherited PD-L1 deficiency is clinically and immunologically less severe than PD-1 deficiency. The Journal of experimental medicine 221 (6) (2024)
Thomas W Laver, Matthew N Wakeling, Richard C Caswell, Benjamin Bunce, Daphne Yau, Jonna M E Männistö, Jayne A L Houghton, Jasmin J Hopkins, Michael N Weedon, Vrinda Saraff, Melanie Kershaw, Engela M Honey, Nuala Murphy, Dinesh Giri, Stuart Nath, Ana Tangari Saredo, Indraneel Banerjee, Khalid Hussain, Nick D L Owens, Sarah E. Flanagan
Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements. European journal of human genetics : EJHG 32 (7) (2024)
Matthew B Johnson, Masato Ogishi, Clara Domingo-Vila, Elisa De Franco, Matthew N Wakeling, Zineb Imane, Brittany Resnick, Evangelia Williams, Rui Pedro Galao, Richard C Caswell, James Russ-Silsby, Yoann Seeleuthner, Darawan Rinchai, Iris Fagniez, Basilin Benson, Matthew J Dufort, Cate Speake, Megan E Smithmyer, Michelle Hudson, Rebecca Dobbs, null null, Zoe Quandt, Andrew T Hattersley, Peng Zhang, Stéphanie Boisson-Dupuis, Mark S Anderson, Jean Laurent Casanova, Timothy I M Tree, Richard D Oram
Human inherited PD-L1 deficiency is clinically and immunologically less severe than PD-1 deficiency. The Journal of experimental medicine 221 (6) (2024)
Matthew B Johnson, Masato Ogishi, Clara Domingo-Vila, Elisa De Franco, Matthew N Wakeling, Zineb Imane, Brittany Resnick, Evangelia Williams, Rui Pedro Galao, Richard C Caswell, James Russ-Silsby, Yoann Seeleuthner, Darawan Rinchai, Iris Fagniez, Basilin Benson, Matthew J Dufort, Cate Speake, Megan E Smithmyer, Michelle Hudson, Rebecca Dobbs, null null, Zoe Quandt, Andrew T Hattersley, Peng Zhang, Stéphanie Boisson-Dupuis, Mark S Anderson, Jean Laurent Casanova, Timothy I M Tree, Richard D Oram
Human inherited PD-L1 deficiency is clinically and immunologically less severe than PD-1 deficiency. The Journal of experimental medicine 221 (6) (2024)
Matthew B Johnson, Masato Ogishi, Clara Domingo-Vila, Elisa De Franco, Matthew N Wakeling, Zineb Imane, Brittany Resnick, Evangelia Williams, Rui Pedro Galao, Richard C Caswell, James Russ-Silsby, Yoann Seeleuthner, Darawan Rinchai, Iris Fagniez, Basilin Benson, Matthew J Dufort, Cate Speake, Megan E Smithmyer, Michelle Hudson, Rebecca Dobbs, null null, Zoe Quandt, Andrew T Hattersley, Peng Zhang, Stéphanie Boisson-Dupuis, Mark S Anderson, Jean Laurent Casanova, Timothy I M Tree, Richard D Oram
Human inherited PD-L1 deficiency is clinically and immunologically less severe than PD-1 deficiency. The Journal of experimental medicine 221 (6) (2024)
Alba Kaci, Marie Holm Solheim, Trine Silgjerd, Jorunn Hjaltadottir, Lorentze Hope Hornnes, Janne Molnes, Andre Madsen, Gry Sjøholt, Christine Bellanné-Chantelot, Richard C Caswell, Jørn V Sagen, Pål R Njølstad, Ingvild Aukrust, Lise Bjørkhaug
Functional characterization of HNF4A gene variants identify promoter and cell line specific transactivation effects. Human molecular genetics 33 (10) (2024)
Thomas W Laver, Matthew N Wakeling, Richard C Caswell, Benjamin Bunce, Daphne Yau, Jonna M E Männistö, Jayne A L Houghton, Jasmin J Hopkins, Michael N Weedon, Vrinda Saraff, Melanie Kershaw, Engela M Honey, Nuala Murphy, Dinesh Giri, Stuart Nath, Ana Tangari Saredo, Indraneel Banerjee, Khalid Hussain, Nick D L Owens, Sarah E. Flanagan
Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements. European journal of human genetics : EJHG 32 (7) (2024)
Matthew B Johnson, Masato Ogishi, Clara Domingo-Vila, Elisa De Franco, Matthew N Wakeling, Zineb Imane, Brittany Resnick, Evangelia Williams, Rui Pedro Galao, Richard C Caswell, James Russ-Silsby, Yoann Seeleuthner, Darawan Rinchai, Iris Fagniez, Basilin Benson, Matthew J Dufort, Cate Speake, Megan E Smithmyer, Michelle Hudson, Rebecca Dobbs, null null, Zoe Quandt, Andrew T Hattersley, Peng Zhang, Stéphanie Boisson-Dupuis, Mark S Anderson, Jean Laurent Casanova, Timothy I M Tree, Richard D Oram
Human inherited PD-L1 deficiency is clinically and immunologically less severe than PD-1 deficiency. The Journal of experimental medicine 221 (6) (2024)
Matthew B Johnson, Masato Ogishi, Clara Domingo-Vila, Elisa De Franco, Matthew N Wakeling, Zineb Imane, Brittany Resnick, Evangelia Williams, Rui Pedro Galao, Richard C Caswell, James Russ-Silsby, Yoann Seeleuthner, Darawan Rinchai, Iris Fagniez, Basilin Benson, Matthew J Dufort, Cate Speake, Megan E Smithmyer, Michelle Hudson, Rebecca Dobbs, null null, Zoe Quandt, Andrew T Hattersley, Peng Zhang, Stéphanie Boisson-Dupuis, Mark S Anderson, Jean Laurent Casanova, Timothy I M Tree, Richard D Oram
Human inherited PD-L1 deficiency is clinically and immunologically less severe than PD-1 deficiency. The Journal of experimental medicine 221 (6) (2024)
Alba Kaci, Marie Holm Solheim, Trine Silgjerd, Jorunn Hjaltadottir, Lorentze Hope Hornnes, Janne Molnes, Andre Madsen, Gry Sjøholt, Christine Bellanné-Chantelot, Richard C Caswell, Jørn V Sagen, Pål R Njølstad, Ingvild Aukrust, Lise Bjørkhaug
Functional characterization of HNF4A gene variants identify promoter and cell line specific transactivation effects. Human molecular genetics 33 (10) (2024)
Alba Kaci, Marie Holm Solheim, Trine Silgjerd, Jorunn Hjaltadottir, Lorentze Hope Hornnes, Janne Molnes, Andre Madsen, Gry Sjøholt, Christine Bellanné-Chantelot, Richard C Caswell, Jørn V Sagen, Pål R Njølstad, Ingvild Aukrust, Lise Bjørkhaug
Functional characterization of HNF4A gene variants identify promoter and cell line specific transactivation effects. Human molecular genetics (2024)
Thomas W Laver, Matthew N Wakeling, Richard C Caswell, Benjamin Bunce, Daphne Yau, Jonna M E Männistö, Jayne A L Houghton, Jasmin J Hopkins, Michael N Weedon, Vrinda Saraff, Melanie Kershaw, Engela M Honey, Nuala Murphy, Dinesh Giri, Stuart Nath, Ana Tangari Saredo, Indraneel Banerjee, Khalid Hussain, Nick D L Owens, Sarah E. Flanagan
Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements. European journal of human genetics : EJHG 32 (7) (2024)
Matthew B Johnson, Masato Ogishi, Clara Domingo-Vila, Elisa De Franco, Matthew N Wakeling, Zineb Imane, Brittany Resnick, Evangelia Williams, Rui Pedro Galao, Richard C Caswell, James Russ-Silsby, Yoann Seeleuthner, Darawan Rinchai, Iris Fagniez, Basilin Benson, Matthew J Dufort, Cate Speake, Megan E Smithmyer, Michelle Hudson, Rebecca Dobbs, null null, Zoe Quandt, Andrew T Hattersley, Peng Zhang, Stéphanie Boisson-Dupuis, Mark S Anderson, Jean Laurent Casanova, Timothy I M Tree, Richard D Oram
Human inherited PD-L1 deficiency is clinically and immunologically less severe than PD-1 deficiency. The Journal of experimental medicine 221 (6) (2024)
Alba Kaci, Marie Holm Solheim, Trine Silgjerd, Jorunn Hjaltadottir, Lorentze Hope Hornnes, Janne Molnes, Andre Madsen, Gry Sjøholt, Christine Bellanné-Chantelot, Richard C Caswell, Jørn V Sagen, Pål R Njølstad, Ingvild Aukrust, Lise Bjørkhaug
Functional characterization of HNF4A gene variants identify promoter and cell line specific transactivation effects. Human molecular genetics 33 (10) (2024)
Elisa De Franco, Nick D L Owens, Hossam Montaser, Matthew N Wakeling, Jonna Saarimäki-Vire, Athina Triantou, Hazem Ibrahim, Diego Balboa, Richard C Caswell, Rachel E Jennings, Jouni A Kvist, Matthew B Johnson, Sachin Muralidharan, Sian Ellard, Caroline Fiona Wright, Sateesh Maddirevula, Fowzan Sami Alkuraya, null null, Neil A Hanley, Sarah E. Flanagan, Timo Otonkoski, Andrew T Hattersley, Michael Imbeault
Primate-specific ZNF808 is essential for pancreatic development in humans. Nature genetics (2023)
Helena Martins Custodio, Lisa M Clayton, Ravishankara Bellampalli, Susanna Pagni, Camila V Esguerra, Richard C Caswell, null null, Andreas Brunklaus, Renzo Guerrini, Bobby P C Koeleman, Johannes R Lemke, Rikke S Møller, Ingrid Eileen Scheffer, Sarah Weckhuysen, Federico Zara, Sameer M Zuberi, Karoline B Kuchenbaecker, Simona Balestrini, James D Mills, Sanjay M Sisodiya
Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition. Brain : a journal of neurology (2023)
Ronit Marom, Bo Zhang, Megan E Washington, I-Wen Song, Lindsay C Burrage, Vittoria C Rossi, Ava S Berrier, Anika G Lindsey, Jacob Lesinski, Michael L Nonet, Jian Chen, Dustin Baldridge, Gary A Silverman, V Reid Sutton, Jill Anne Rosenfeld, Alyssa A Tran, M John Hicks, David R Murdock, Hongzheng Dai, MaryAnn Weis, Shalini N Jhangiani, Donna M Muzny, Richard A Gibbs, Richard C Caswell, Carrie Pottinger, Deirdre Cilliers, Karen Stals, null null, David Eyre, Deborah Krakow, Tim Schedl, Stephen C Pak, Brendan H Lee
Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling. PLoS genetics 19 (11) (2023)
Athina Ververi, Sara Zagaglia, Lara Menzies, Júlia Baptista, Richard C Caswell, Stephanie Baulac, Sian Ellard, Sally Lynch, Genomics England Research Consortium, Thomas S Jacques, Maninder Singh Chawla, Martin Heier, Mari Ann Kulseth, Inger-Lise Mero, Anne Katrine Våtevik, Ichraf Kraoua, Hanene Ben Rhouma, Thouraya Ben Younes, Zouhour Miladi, Ilhem Ben Youssef Turki, Wendy D Jones, Emma Clement, Christin Eltze, Kshitij Mankad, Ashirwad Merve, Jennifer Parker, Bethan Hoskins, Ronit Pressler, Sniya Sudhakar, Catherine DeVile, Tessa Homfray, Marios Kaliakatsos, Prab Prabhakar Ponnudas, Robert Robinson, Sara Margrete Bøen Keim, Imen Habibi, Alexandre Reymond, Sanjay M Sisodiya, Jane A Hurst
Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria. Human molecular genetics (2022)
Richard C Caswell, Adam C Gunning, Martina M Owens, Sian Ellard, Caroline F Wright
Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory. Genome medicine 14 (1) (2022)
Maya Chopra, Richard C Caswell, Giulia Barcia, Sophie Rondeau, Laurence Jonard, Patrick Nitchké, Daniel Amram, Marc-Lionel Bellaiche, Veronique Abadie, Marine Parodi, Francoise Denoyelle, Andrew Hattersley, Christine Bole, Stanislas Lyonnet, Sandrine Marlin
Mild MDPL in a patient with a novel de novo missense variant in the Cys-B region of POLD1. European journal of human genetics : EJHG 30 (8) (2022)
Silvia Beatriz Sanchez Marco, Edgar Buhl, Rose Firth, Bangfu Zhu, Mary Gainsborough, Ana Beleza-Meireles, Sandra Moore, Richard C Caswell, Karen Stals, Sian Ellard, Cameron Kennedy, James J L Hodge, Anirban Majumdar
Hereditary spastic paraparesis presenting as cerebral palsy due to ADD3 variant with mechanistic insight provided by a Drosophila γ-adducin model. Clinical genetics 102 (6) (2022)
Helen McDermott, Hannah K Robinson, Richard C Caswell, Harsha Gowda, Amaka C Offiah, Swati Naik
Robinow syndrome in an extremely preterm infant: Novel homozygous ROR2 variant detected by rapid exome sequencing. American journal of medical genetics. Part A (2021)
Indraneel Banerjee, Senthil Senniappan, Thomas W Laver, Richard C Caswell, Martin Zenker, Klaus Mohnike, Tim Cheetham, Matthew N Wakeling, Dunia Ismail, Belinda Lennerz, Miranda Splitt, Merih Berberoğlu, Susann Empting, Martin Wabitsch, Simone Pötzsch, Prateek Shanmugananda, Zeynep Siklar, Charles F Verge, Michael N Weedon, Sian Ellard, Khalid Hussain, Sarah E. Flanagan
Refinement of the critical genomic region for congenital hyperinsulinism in the Chromosome 9p deletion syndrome. Wellcome open research 4 (2020)
Damilola Olubando, Claire Hopton, James Eden, Richard C Caswell, N Lowri Thomas, Stephen A Roberts, Deborah Morris-Rosendahl, Luigi Venetucci, William G Newman
Classification and correlation of RYR2 missense variants in individuals with catecholaminergic polymorphic ventricular tachycardia reveals phenotypic relationships. Journal of human genetics 65 (6) (2020)
Richard C Caswell, Martina M Owens, Adam C Gunning, Sian Ellard, Caroline Fiona Wright
Using Structural Analysis In Silico to Assess the Impact of Missense Variants in MEN1. Journal of the Endocrine Society 3 (12) (2019)
Indraneel Banerjee, Senthil Senniappan, Thomas W Laver, Richard C Caswell, Martin Zenker, Klaus Mohnike, Tim Cheetham, Matthew N Wakeling, Dunia Ismail, Belinda Lennerz, Miranda Splitt, Merih Berberoğlu, Susann Empting, Martin Wabitsch, Simone Pötzsch, Prateek Shanmugananda, Zeynep Siklar, Charles F Verge, Michael N Weedon, Sian Ellard, Khalid Hussain, Sarah E. Flanagan
Refinement of the critical genomic region for hypoglycaemia in the Chromosome 9p deletion syndrome. Wellcome open research (2019)
K J Low, Karen L Stals, Richard C Caswell, M Wakeling, J Clayton-Smith, A Donaldson, N Foulds, A Norman, Miranda Splitt, K Urankar, K Vijayakumar, A Majumdar, Ddd Study, S Ellard, S F Smithson
Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy. European journal of human genetics : EJHG 26 (6) (2018)
Donato Iacovazzo, Sarah E Flanagan, Emily Walker, Rosana Quezado, Fernando Antonio de Sousa Barros, Richard C Caswell, Matthew B Johnson, Matthew Wakeling, Michael Brändle, Min Guo, Mary N Dang, Plamena Gabrovska, Bruno Niederle, Emanuel Christ, Stefan Jenni, Bence Sipos, Maike Nieser, Andrea Frilling, Ketan Dhatariya, Philippe Chanson, Wouter W de Herder, Björn Konukiewitz, Günter Klöppel, Roland Stein, Márta Korbonits, Sian Ellard
MAFA missense mutation causes familial insulinomatosis and diabetes mellitus. Proceedings of the National Academy of Sciences of the United States of America 115 (5) (2018)

Richard C Caswell.css-eqlu8i{font-size:small;padding-left:4px;} (R Caswell, Richard Caswell)

Publication Activity (10 Years)

Top Topics

Top Venues

Richard C Caswell (R Caswell, Richard Caswell)