Caroline F Wright (C F Wright, Wright Cf)

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2017-2023
Publications (10 Years): 21

Top Venues

Nature communications

BMC medical genomics

Wellcome open research

Nature genetics

University of Exeter

University of Cambridge (PHD)

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

Affiliation History

University of Exeter Apr 18o 2017

United Kingdom

Professor :: Medical School

Education History

University of Cambridge

United Kingdom

PHD

Publications

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 F 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)
S Cannon, M Williams, A C Gunning, Caroline F Wright
Evaluation of in silico pathogenicity prediction tools for the classification of small in-frame indels. BMC medical genomics 16 (1) (2023)
S Cannon, M Williams, A C Gunning, Caroline F Wright
Evaluation of in silico pathogenicity prediction tools for the classification of small in-frame indels. BMC medical genomics 16 (1) (2023)
Saleh Shekari, Stasa Stankovic, Eugene J Gardner, Gareth Hawkes, Katherine A Kentistou, Robin N Beaumont, Alexander Mörseburg, Andrew R Wood, Julia K Prague, Gita D Mishra, Felix R Day, Júlia Baptista, Caroline F Wright, Michael N Weedon, Eva R Hoffman, Katherine S Ruth, Ken K Ong, John R B Perry, Anna Murray
Penetrance of pathogenic genetic variants associated with premature ovarian insufficiency. Nature medicine (2023)
S Cannon, M Williams, A C Gunning, Caroline F Wright
Evaluation of in silico pathogenicity prediction tools for the classification of small in-frame indels. BMC medical genomics 16 (1) (2023)
Caroline F Wright, Patrick Campbell, Ruth Y Eberhardt, Stuart Aitken, Daniel Perrett, Simon Brent, Petr Danecek, Eugene J Gardner, V Kartik Chundru, Sarah J Lindsay, Katrina Andrews, Juliet Hampstead, Joanna Kaplanis, Kaitlin E Samocha, Anna Middleton, Julia Foreman, Rachel J Hobson, Michael J Parker, Hilary C Martin, David R FitzPatrick, Matthew E Hurles, Helen V Firth, null null
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland. The New England journal of medicine (2023)
S Cannon, M Williams, A C Gunning, Caroline F Wright
Evaluation of in silico pathogenicity prediction tools for the classification of small in-frame indels. BMC medical genomics 16 (1) (2023)
Janina Sörmann, Marcus Schewe, Peter Proks, Thibault R H Jouen-Tachoire, Shanlin Rao, Elena B Riel, Katherine E Agre, Amber Begtrup, John Dean, Maria Descartes, Jan Fischer, Alice Gardham, Carrie Lahner, Paul R Mark, Srikanth Muppidi, Pavel N Pichurin, Joseph Porrmann, Jens Schallner, Kirstin Smith, Volker Straub, Pradeep Vasudevan, Rebecca Willaert, Elisabeth P Carpenter, Karin E J Rödström, Michael G Hahn, Thomas Müller, Thomas Baukrowitz, Matthew E Hurles, Caroline F Wright, Stephen J Tucker
Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea. Nature genetics 54 (10) (2022)
Caroline F Wright, E Prigmore, D Rajan, J Handsaker, J McRae, J Kaplanis, T W Fitzgerald, D R FitzPatrick, H V Firth, M E Hurles
Author Correction: Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data. Nature communications 13 (1) (2022)
Hilary C Martin, Eugene J Gardner, Kaitlin E Samocha, Joanna Kaplanis, Nadia Akawi, Alejandro Sifrim, Ruth Y Eberhardt, Ana Lisa Taylor Tavares, Matthew D C Neville, Mari E K Niemi, Giuseppe Gallone, Jeremy McRae, null null, Caroline F Wright, David R FitzPatrick, Helen V Firth, Matthew E Hurles
The contribution of X-linked coding variation to severe developmental disorders. Nature communications 12 (1) (2021)
Weedon Mn, Jackson L, Harrison Jw, Ruth Ks, Tyrrell J, Hattersley At, Caroline F Wright
Use of SNP chips to detect rare pathogenic variants: retrospective, population based diagnostic evaluation. BMJ (Clinical research ed.) 372 (2021)
Caroline F Wright, Ruth Y Eberhardt, Panayiotis Constantinou, Matthew E Hurles, David R FitzPatrick, Helen V Firth, null null
Evaluating variants classified as pathogenic in ClinVar in the DDD Study. Genetics in medicine : official journal of the American College of Medical Genetics 23 (3) (2020)
Adam C Gunning, Verity Fryer, James Fasham, Andrew H Crosby, Sian Ellard, Emma L Baple, Caroline F Wright
Assessing performance of pathogenicity predictors using clinically relevant variant datasets. Journal of medical genetics 58 (8) (2020)
Anja Thormann, Mihail Halachev, William McLaren, David J Moore, Victoria Svinti, Archie I Campbell, Shona M Kerr, Marc Tischkowitz, Sarah E Hunt, Malcolm G Dunlop, Matthew E Hurles, Caroline F Wright, Helen V Firth, Fiona Cunningham, David R FitzPatrick
Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nature communications 10 (1) (2019)
Richard C Caswell, Martina M Owens, Adam C Gunning, Sian Ellard, Caroline F Wright
Using Structural Analysis In Silico to Assess the Impact of Missense Variants in MEN1. Journal of the Endocrine Society 3 (12) (2019)
Caroline F Wright, James S Ware, Anneke M Lucassen, Alison Hall, Middleton Anna, Nazneen Rahman, Sian Ellard, Helen V Firth
Genomic variant sharing: a position statement. Wellcome open research 4 (2019)
Charlotte A Rowe, Caroline F Wright
Expanded universal carrier screening and its implementation within a publicly funded healthcare service. Journal of community genetics 11 (1) (2019)
Caroline F Wright, E Prigmore, D Rajan, J Handsaker, J McRae, J Kaplanis, T W Fitzgerald, D R FitzPatrick, H V Firth, M E Hurles
Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data. Nature communications 10 (1) (2019)
Hilary C Martin, Wendy D Jones, Rebecca E McIntyre, Gabriela Sanchez-Andrade, Mark Sanderson, James David Stephenson, Carla P Jones, Juliet Handsaker, Giuseppe Gallone, Michaela Bruntraeger, Jeremy F McRae, Elena Prigmore, Patrick J Short, Mari E K Niemi, Joanna Kaplanis, Elizabeth J Radford, Nadia Akawi, Meena Balasubramanian, John Dean, Rachel Horton, Alice Hulbert, Diana S Johnson, Katie Johnson, Dhavendra Kumar, Sally-Ann Lynch, Sarju G Mehta, Jenny Morton, Michael J Parker, Miranda Splitt, Peter D Turnpenny, Pradeep C Vasudevan, Michael Wright, Andrew R Bassett, Sebastian S Gerety, Caroline F Wright, David R FitzPatrick, Helen V Firth, Matthew E Hurles, Jeffrey C Barrett, null null
Quantifying the contribution of recessive coding variation to developmental disorders. Science (New York, N.Y.) 362 (6419) (2018)
Mohnish Suri, Jochem M G Evers, Roman A Laskowski, Sinead O'Brien, Kate Baker, Jill Clayton-Smith, Tabib Dabir, Dragana Josifova, Shelagh Joss, Bronwyn Kerr, Alison Kraus, Meriel McEntagart, Jenny Morton, Audrey Smith, Miranda Splitt, Janet M Thornton, null null, Caroline F Wright
Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP1. Molecular genetics & genomic medicine 5 (5) (2017)
Caroline F Wright, Anna Middleton, Jeffrey C Barrett, Helen V Firth, David R FitzPatrick, Matthew E Hurles, Michael Parker
Returning genome sequences to research participants: Policy and practice. Wellcome open research 2 (2017)

Caroline F Wright.css-eqlu8i{font-size:small;padding-left:4px;} (C F Wright, Wright Cf)

Publication Activity (10 Years)

Top Topics

Top Venues

Caroline F Wright (C F Wright, Wright Cf)