Alison J Hardcastle (Alison Hardcastle)

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 7

Top Topics

Genome Wide Association

Intellectual Disability

Cataract Surgery

Top Venues

European journal of human genetics : EJHG

Communications biology

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

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

Publications

Freddie L Braddock, Jessica C Gardner, Nihar Bhattacharyya, Beatriz Sanchez-Pintado, Marcos Costa, Christina Zarouchlioti, Anita Szabo, Petra Lišková, Michael E Cheetham, Robert D Young, Caroline M H Thaung, Alice E Davidson, Stephen J Tuft, Alison J Hardcastle
Autosomal dominant stromal corneal dystrophy associated with a SPARCL1 missense variant. European journal of human genetics : EJHG (2024)
Freddie L Braddock, Jessica C Gardner, Nihar Bhattacharyya, Beatriz Sanchez-Pintado, Marcos Costa, Christina Zarouchlioti, Anita Szabo, Petra Lišková, Michael E Cheetham, Robert D Young, Caroline M H Thaung, Alice E Davidson, Stephen J Tuft, Alison J Hardcastle
Autosomal dominant stromal corneal dystrophy associated with a SPARCL1 missense variant. European journal of human genetics : EJHG (2024)
Bernd Wissinger, Britta Baumann, Elena Buena-Atienza, Zeinab Ravesh, Artur V Cideciyan, Katarina Stingl, Isabelle Audo, Isabelle Meunier, Béatrice Bocquet, Elias I Traboulsi, Alison J Hardcastle, Jessica C Gardner, Michel Michaelides, Kari E Branham, Thomas Rosenberg, Sten Andreasson, Hélène Dollfus, David Birch, Andrea L Vincent, Loreto Martorell, Jaume Catala, Ulrich Kellner, Klaus Rüther, Birgit Lorenz, Markus N Preising, Emanuela Manfredini, Yuri A Zarate, Raymon Vijzelaar, Eberhart Zrenner, Samuel G Jacobson, Susanne Kohl
The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy. Proceedings of the National Academy of Sciences of the United States of America 119 (27) (2022)
Howard Maile, Ji-Peng Olivia Li, Daniel Gore, Marcello Leucci, Pádraig J Mulholland, Scott C Hau, Anita Szabo, Ismail Moghul, Konstantinos Balaskas, Kaoru Fujinami, Pirro G Hysi, Alice E Davidson, Petra Liskova, Alison J Hardcastle, Stephen J Tuft, Nikolas Pontikos
Machine Learning Algorithms to Detect Subclinical Keratoconus: Systematic Review. JMIR medical informatics 9 (12) (2021)
Alison J Hardcastle, Petra Liskova, Yelena Bykhovskaya, Bennet J McComish, Alice E Davidson, Chris F Inglehearn, Xiaohui Li, Helene Choquet, Mahmoud Habeeb, Sionne E M Lucas, Srujana Sahebjada, Nikolas Pontikos, Karla E Rojas Lopez, Anthony P Khawaja, Manir Ali, Lubica Dudakova, Pavlina Skalicka, Bart T H Van Dooren, Annette J M Geerards, Christoph Walter Haudum, Valeria Lo Faro, Abi Tenen, Mark J Simcoe, Karina Patasova, Darioush Yarrand, Jie Yin, Salina Siddiqui, Aine Rice, Layal Abi Farraj, Yii-Der Ida Chen, Jugnoo S Rahi, Ronald M Krauss, Elisabeth Theusch, Jac C Charlesworth, Loretta Szczotka-Flynn, Carmel Toomes, Magda A Meester-Smoor, Andrea J Richardson, Paul A Mitchell, Kent D Taylor, Ronald B Melles, Anthony J Aldave, Richard A Mills, Ke Cao, Elsie Chan, Mark D Daniell, Jie Jing Wang, Jerome I Rotter, Alex W Hewitt, Stuart Macgregor, Caroline C W Klaver, Wishal D Ramdas, Jamie E Craig, Sudha K Iyengar, David O'Brart, Eric Jorgensen, Paul N Baird, Yaron S Rabinowitz, Kathryn P Burdon, Christopher J Hammond, Stephen J Tuft, Pirro G Hysi
A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus. Communications biology 4 (1) (2021)
Helene Choquet, Ronald B Melles, Jie Yin, Thomas J Hoffmann, Khanh K Thai, Mark N Kvale, Yambazi Banda, Alison J Hardcastle, Stephen J Tuft, M Maria Glymour, Catherine Schaefer, Neil Risch, K Saidas Nair, Pirro G Hysi, Eric Jorgensen
A multiethnic genome-wide analysis of 44,039 individuals identifies 41 new loci associated with central corneal thickness. Communications biology 3 (1) (2020)
Alessia Fiorentino, Kaoru Fujinami, Gavin Arno, Anthony G Robson, Nikolas Pontikos, Monica Arasanz Armengol, Vincent Plagnol, Takaaki Hayashi, Takeshi Iwata, Matthew Parker, Tom Fowler, Augusto Rendon, Jessica C Gardner, Robert H Henderson, Michael E Cheetham, Andrew R Webster, Michel Michaelides, Alison J Hardcastle, null null
Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females. Human mutation 39 (1) (2017)