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Alison J. Hardcastle

UCL

53H-index
272Paper Count
9.1KCitation Count
Published Papers 96
Publication Date
Influence of inflammatory and metabolic factors on keratoconus risk: a causal inference analysis
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IF3.2
err2026-02-19
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errPirro G. Hysi; Alison J. Hardcastle; Alice E. Davidson; Loretta Szczotka-Flynn; Anthony P. Khawaja; Petra Liskova; Sudha Iyengar; Chris J. Hammond; Stephen J. Tuft
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De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa
err2026-01-09
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errMathieu Quinodoz; Kim Rodenburg; Zuzana Cvackova; Karolina Kaminska; Suzanne E. de Bruijn; Ana Belén Iglesias-Romero; Erica G. M. Boonen; Mukhtar Ullah; Nick Zomer; Marc Folcher; Jacques Bijon; Lara K. Holtes; Stephen H. Tsang; Zelia Corradi; K. Bailey Freund; Stefanida Shliaga; Daan M. Panneman; Rebekkah J. Hitti-Malin; Manir Ali; Ala’a AlTalbishi; Sten Andréasson; Georg Ansari; Gavin Arno; Galuh D. N. Astuti; Carmen Ayuso; Radha Ayyagari; Sandro Banfi; Eyal Banin; Tahsin Stefan Barakat; Mirella T. S. Barboni; Miriam Bauwens; Tamar Ben-Yosef; Virginie Bernard; David G. Birch; Pooja Biswas; Fiona Blanco-Kelly; Beatrice Bocquet; Camiel J. F. Boon; Kari Branham; Dominique Bremond-Gignac; Alexis Ceecee Britten-Jones; Kinga M. Bujakowska; Cyril Burin des Roziers; Elizabeth L. Cadena; Giacomo Calzetti; Francesca Cancellieri; Luca Cattaneo; Naomi Chadderton; Peter Charbel Issa; Luísa Coutinho-Santos; Stephen P. Daiger; Elfride De Baere; Marieke De Bruyne; Berta de la Cerda; John N. De Roach; Julie De Zaeytijd; Ronny Derks; Claire-Marie Dhaenens; Lubica Dudakova; Jacque L. Duncan; G. Jane Farrar; Nicolas Feltgen; Beau J. Fenner; Lidia Fernández-Caballero; Juliana M. Ferraz Sallum; Simone Gana; Alejandro Garanto; Jessica C. Gardner; Christian Gilissen; Roser Gonzàlez-Duarte; Kensuke Goto; Sam Griffiths-Jones; Tobias B. Haack; Lonneke Haer-Wigman; Alison J. Hardcastle; Takaaki Hayashi; Elise Héon; Lies H. Hoefsloot; Alexander Hoischen; Josephine P. Holtan; Carel B. Hoyng; Manuel Benjamin B. Ibanez; Chris F. Inglehearn; Takeshi Iwata; Brynjar O. Jensson; Kaylie Jones; Vasiliki Kalatzis; Smaragda Kamakari; Marianthi Karali; Ulrich Kellner; Caroline C. W. Klaver; Krisztina Knézy; Robert K. Koenekoop; Susanne Kohl; Taro Kominami; Laura Kühlewein; Tina M. Lamey; Rina Leibu; Bart P. Leroy; Petra Liskova; Irma Lopez; Victor R. de J. López-Rodríguez; Quinten Mahieu; Omar A. Mahroo; Gaël Manes; Luke Mansard; M. Pilar Martín-Gutiérrez; Nelson Martins; Laura Mauring; Martin McKibbin; Terri L. McLaren; Isabelle Meunier; Michel Michaelides; José M. Millán; Kei Mizobuchi; Rajarshi Mukherjee; Zoltán Zsolt Nagy; Kornelia Neveling; Monika Ołdak; Michiel Oorsprong; Yang Pan; Anastasia Papachristou; Antonio Percesepe; Maximilian Pfau; Eric A. Pierce; Emily Place; Raj Ramesar; Francis Ramond; Florence Andrée Rasquin; Gillian I. Rice; Lisa Roberts; María Rodríguez-Hidalgo; Javier Ruiz-Ederra; Ataf H. Sabir; Ai Fujita Sajiki; Ana Isabel Sánchez-Barbero; Asodu Sandeep Sarma; Riccardo Sangermano; Cristina M. Santos; Margherita Scarpato; Hendrik P. N. Scholl; Dror Sharon; Sabrina G. Signorini; Francesca Simonelli; Ana Berta Sousa; Maria Stefaniotou; Kari Stefansson; Katarina Stingl; Akiko Suga; Patrick Sulem; Lori S. Sullivan; Viktória Szabó; Jacek P. Szaflik; Gita Taurina; Alberta A. H. J. Thiadens; Carmel Toomes; Viet H. Tran; Miltiadis K. Tsilimbaris; Pavlina Tsoka; Veronika Vaclavik; Marie Vajter; Sandra Valeina; Enza Maria Valente; Casey Valentine; Rebeca Valero; Sophie Valleix; Joseph van Aerschot; L. Ingeborgh van den Born; Mattias Van Heetvelde; Virginie J. M. Verhoeven; Andrea L. Vincent; Andrew R. Webster; Laura Whelan; Bernd Wissinger; Georgia G. Yioti; Kazutoshi Yoshitake; Juan C. Zenteno; Roberta Zeuli; Theresia Zuleger; Chaim Landau; Allan I. Jacob; Siying Lin; Frans P. M. Cremers; Winston Lee; Jamie M. Ellingford; David Stanek; Susanne Roosing; Carlo Rivolta
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RP9 revisited; RP9 p.(H137L) remains a likely cause of dominant splicing factor-Retinitis Pigmentosa
err2025-10-23
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errLeon Chang; James A. Poulter; Andrew R. Webster; Gavin Arno; Rajarshi Mukherjee; Andrew Lotery; Alison J. Hardcastle; Christopher M. Watson; Chris F. Inglehearn
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Next-generation phenotyping of inherited retinal diseases from multimodal imaging with Eye2Gene
err2025-06-18
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errNikolas Pontikos; William A. Woof; Siying Lin; Biraja Ghoshal; Bernardo S. Mendes; Advaith Veturi; Quang Nguyen; Behnam Javanmardi; Michalis Georgiou; Alexander Hustinx; Miguel A. Ibarra-Arellano; Ismail Moghul; Yichen Liu; Kristina Pfau; Maximilian Pfau; Mital Shah; Jing Yu; Saoud Al-Khuzaei; Siegfried K. Wagner; Malena Daich Varela; Thales Antonio Cabral de Guimarães; Sagnik Sen; Gunjan Naik; Dayyanah Sumodhee; Dun Jack Fu; Nathaniel Kabiri; Jennifer Furman; Bart Liefers; Aaron Y. Lee; Samantha R. De Silva; Caio Marques; Fabiana Motta; Yu Fujinami-Yokokawa; Alison J. Hardcastle; Gavin Arno; Birgit Lorenz; Philipp Herrmann; Kaoru Fujinami; Juliana Sallum; Savita Madhusudhan; Susan M. Downes; Frank G. Holz; Konstantinos Balaskas; Andrew R. Webster; Omar A. Mahroo; Peter M. Krawitz; Michel Michaelides
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Genetic and Demographic Determinants of Fuchs Endothelial Corneal Dystrophy Risk and Severity
err2025-04-01
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errLiu, Siyin; Sadan, Amanda N.; Bhattacharyya, Nihar; Zarouchlioti, Christina; Szabo, Anita; Abreu Costa, Marcos; Hafford-Tear, Nathaniel J.; Kladny, Anne-Marie S.; Dudakova, Lubica; Ciosi, Marc; Moghul, Ismail; Wilkins, Mark R.; Allan, Bruce; Skalicka, Pavlina; Hardcastle, Alison J.; Pontikos, Nikolas; Bunce, Catey; Monckton, Darren G.; Muthusamy, Kirithika; Liskova, Petra; Tuft, Stephen J.; Davidson, Alice E.
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A novel recurrent ARL3 variant c.209G > A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models
err2025-03-01
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errCorral-Serrano, Julio C.; Vaclavik, Veronika; van de Sompele, Stijn; Kaminska, Karolina; Jovanovic, Katarina; Escher, Pascal; van den Broeck, Filip; Cancellieri, Francesca; Toulis, Vasileios; Leroy, Bart P.; de Zaeytijd, Julie; You, Zhixuan; Ottaviani, Daniele; Quinodoz, Mathieu; Bordeanu, Gabriela; Hardcastle, Alison J.; Coppieters, Frauke; Tran, Viet H.; Cheetham, Michael E.; Rivolta, Carlo; De Baere, Elfride
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Inter-chromosomal insertions at Xq27.1 associated with retinal dystrophy induce dysregulation of LINC00632 and CDR1as/ciRS-7
err2025-01-01
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errGardner, Jessica C.; Jovanovic, Katarina; Ottaviani, Daniele; Melo, Uira Souto; Jackson, Joshua; Guarascio, Rosellina; Ziaka, Kalliopi; Hau, Kwan-Leong; Lane, Amelia; Taylor, Rachel L.; Chai, Niuzheng; Gkertsou, Christina; Fernando, Owen; Piwecka, Monika; Georgiou, Michalis; Mundlos, Stefan; Black, Graeme C.; Moore, Anthony T.; Michaelides, Michel; Cheetham, Michael E.; Hardcastle, Alison J.
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Tissue-specific TCF4 triplet repeat instability revealed by optical genome mapping
err2024-10-01
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errZarouchlioti, Christina; Efthymiou, Stephanie; Facchini, Stefano; Dominik, Natalia; Bhattacharyya, Nihar; Liu, Siyin; Costa, Marcos Abreu; Szabo, Anita; Sadan, Amanda N.; Jun, Albert S.; Bugiardini, Enrico; Houlden, Henry; Cortese, Andrea; Skalicka, Pavlina; Dudakova, Lubica; Muthusamy, Kirithika; Cheetham, Michael E.; Hardcastle, Alison J.; Liskova, Petra; Tuft, Stephen J.; Davidson, Alice E.
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Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression
err2024-09-01
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errMalka, Samantha; Biswas, Pooja; Berry, Anne-Marie; Sangermano, Riccardo; Ullah, Mukhtar; Lin, Siying; D'Antonio, Matteo; Jestin, Aleksandr; Jiao, Xiaodong; Quinodoz, Mathieu; Sullivan, Lori; Gardner, Jessica C.; Place, Emily M.; Michaelides, Michel; Kaminska, Karolina; Mahroo, Omar A.; Schiff, Elena; Wright, Genevieve; Cancellieri, Francesca; Vaclavik, Veronika; Santos, Cristina; Rehman, Atta Ur; Mehrotra, Sudeep; Baig, Hafiz Muhammad Azhar; Iqbal, Muhammad; Nsar, Muhammad A.; Santos, Luisa Coutinho; Sousa, Ana Berta; Tran, Viet H.; Matsui, Hiroko; Bhatia, Anjana; Naeem, Muhammad Asif; Akram, Shehla J.; Akram, Javed; Riazuddin, Sheikh; Ayuso, Carmen; Pierce, Eric A.; Hardcastle, Alison J.; Riazuddin, S. Amer; Frazer, Kelly A.; Hejtmancik, J. Fielding; Rivolta, Carlo; Bujakowska, Kinga M.; Arno, Gavin; Webster, Andrew R.; Ayyagari, Radha
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Autosomal dominant stromal corneal dystrophy associated with a SPARCL1 missense variant
err2024-08-21
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errBraddock, Freddie L.; Gardner, Jessica C.; Bhattacharyya, Nihar; Sanchez-Pintado, Beatriz; Costa, Marcos; Zarouchlioti, Christina; Szabo, Anita; Liskova, Petra; Cheetham, Michael E.; Young, Robert D.; Thaung, Caroline; Davidson, Alice E.; Tuft, Stephen J.; Hardcastle, Alison J.
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Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease
err2024-05-07
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errBhattacharyya, Nihar; Chai, Niuzheng; Hafford-Tear, Nathaniel J.; Sadan, Amanda N.; Szabo, Anita; Zarouchlioti, Christina; Jedlickova, Jana; Leung, Szi Kay; Liao, Tianyi; Dudakova, Lubica; Skalicka, Pavlina; Parekh, Mohit; Moghul, Ismail; Jeffries, Aaron R.; Cheetham, Michael E.; Muthusamy, Kirithika; Hardcastle, Alison J.; Pontikos, Nikolas; Liskova, Petra; Tuft, Stephen J.; Davidson, Alice E.
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RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History in a Large Cohort of Female Carriers
err2024-05-01
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errGeorgiou, Michalis; Robson, Anthony G.; Uwaydat, Sami H.; Ji, Marco H.; Shakarchi, Ahmed F.; Pontikos, Nikolas; Mahroo, Omar A.; Cheetham, Michael E.; Webster, Andrew R.; Hardcastle, Alison J.; Michaelides, Michel
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RP2-Associated X-linked Retinopathy Clinical Findings, Molecular Genetics, and Natural History
err2023-04-01
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errGeorgiou, Michalis; Robson, Anthony G.; Jovanovic, Katarina; Guimaraes, Thales A. C. de; Ali, Naser; Pontikos, Nikolas; Uwaydat, Sami H.; Mahroo, Omar A.; Cheetham, Michael E.; Webster, Andrew R.; Hardcastle, Alison J.; Michaelides, Michel
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Phenotype and genotype of concurrent keratoconus and Fuchs endothelial corneal dystrophy
err2023-03-07
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errLiu, Siyin; Sadan, Amanda N.; Muthusamy, Kirithika; Zarouchlioti, Christina; Jedlickova, Jana; Pontikos, Nikolas; Thaung, Caroline; Hardcastle, Alison J.; Netukova, Magdalena; Skalicka, Pavlina; Dudakova, Lubica; Bunce, Catey; Tuft, Stephen J.; Davidson, Alice E.; Liskova, Petra
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Late-Onset Autosomal Dominant Macular Degeneration Caused by Deletion of the CRX Gene
err2023-01-01
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errYahya, Samar; Smith, Claire E. L.; Poulter, James A.; McKibbin, Martin; Arno, Gavin; Ellingford, Jamie; Kampjarvi, Kati; Khan, Muhammad, I; Cremers, Frans P. M.; Hardcastle, Alison J.; Castle, Bruce; Steel, David H. W.; Webster, Andrew R.; Black, Graeme C.; El-Asrag, Mohammed E.; Ali, Manir; Toomes, Carmel; Inglehearn, Chris F.
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Foveal Cone Structure in Patients With Blue Cone Monochromacy
err2022-10-27
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errPatterson, Emily J.; Kalitzeos, Angelos; Kane, Thomas M.; Singh, Navjit; Kreis, Joseph; Pennesi, Mark E.; Hardcastle, Alison J.; Neitz, Jay; Neitz, Maureen; Michaelides, Michel; Carroll, Joseph
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Personalized Model to Predict Keratoconus Progression From Demographic, Topographic, and Genetic Data
err2022-08-01
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errMaile, Howard p.; LI, Ji-peng olivia; Fortune, Mary d.; Royston, Patrick; Leucci, Marcello t.; Moghul, Ismail; Szabo, Anita; Balaskas, Konstantinos; Allan, Bruce d.; Hardcastle, Alison j.; Hysi, Pirro; Pontikos, Nikolas; Tuft, Stephen j.; Gore, Daniel m.
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The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy
err2022-06-27
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errWissinger, Bernd; Baumann, Britta; Buena-Atienza, Elena; Ravesh, Zeinab; Cideciyan, Artur, V; Stingl, Katarina; Audo, Isabelle; Meunier, Isabelle; Bocquet, Beatrice; Traboulsi, Elias, I; Hardcastle, Alison J.; Gardner, Jessica C.; Michaelides, Michel; Branham, Kari E.; Rosenberg, Thomas; Andreasson, Sten; Dollfus, Helene; Birch, David; Vincent, Andrea L.; Martorell, Loreto; Mora, Jaume Catala; Kellner, Ulrich; Ruther, Klaus; Lorenz, Birgit; Preising, Markus N.; Manfredini, Emanuela; Zarate, Yuri A.; Vijzelaar, Raymon; Zrenner, Eberhart; Jacobson, Samuel G.; Kohl, Susanne
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Machine Learning Algorithms to Detect Subclinical Keratoconus: Systematic Review
err2021-12-13
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errMaile, Howard; Li, Ji-Peng Olivia; Gore, Daniel; Leucci, Marcello; Mulholland, Padraig; Hau, Scott; Szabo, Anita; Moghul, Ismail; Balaskas, Konstantinos; Fujinami, Kaoru; Hysi, Pirro; Davidson, Alice; Liskova, Petra; Hardcastle, Alison; Tuft, Stephen; Pontikos, Nikolas
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Novel disease-causing variants and phenotypic features of X-linked megalocornea
err2021-10-13
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errDudakova, Lubica; Tuft, Stephen; Cheong, Sek-Shir; Skalicka, Pavlina; Jedlickova, Jana; Fichtl, Marek; Hlozanek, Martin; Filous, Ales; Vaneckova, Manuela; Vincent, Andrea L.; Hardcastle, Alison J.; Davidson, Alice E.; Liskova, Petra
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