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Chris F. Inglehearn

University of Leeds

59H-index
262Paper Count
1.1WCitation Count
Published Papers 114
Publication Date
ACP4 Variants in Hypoplastic Amelogenesis Imperfecta
err2026-04-11
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errLu Liu; Cheuk Wang Au; Ummey Hany; Alice L. Rigby; Anesha Chauhan; Catriona Brown; Jessie Sims; Gina Murillo; Marìa Gabriela Acosta de Carmargo; Chris F. Inglehearn; Christopher M. Watson; Alan J. Mighell; Claire E. L. Smith
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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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RetiGene, a comprehensive gene atlas for inherited retinal diseases
err2025-09-16
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errCarlo Rivolta; Elifnaz Celik; Dhryata Kamdar; Francesca Cancellieri; Karolina Kaminska; Mukhtar Ullah; Pilar Barberán-Martínez; Manon Bouckaert; Marta Cortón; Emma Delanote; Lidia Fernández-Caballero; Gema García García; Lara K. Holtes; Marianthi Karali; Irma Lopez; Virginie G. Peter; Nina Schneider; Lieselot Vincke; Carmen Ayuso; Sandro Banfi; Beatrice Bocquet; Frauke Coppieters; Frans P.M. Cremers; Chris F. Inglehearn; Takeshi Iwata; Vasiliki Kalatzis; Robert K. Koenekoop; José M. Millán; Dror Sharon; Carmel Toomes; Mathieu Quinodoz
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Genetic Screening of a Nonsyndromic Amelogenesis Imperfecta Patient Cohort Using a Custom smMIP Reagent for Selective Enrichment of Target Loci
err2025-07-22
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errUmmey Hany; Christopher M. Watson; Lu Liu; Georgios Nikolopoulos; Claire E. L. Smith; James A. Poulter; Agne Antanaviciute; Alice Rigby; Richard Balmer; Catriona J. Brown; Anesha Patel; María Gabriela Acosta de Camargo; Helen D. Rodd; Michelle Moffat; Gina Murillo; Amal Mudawi; Hussain Jafri; Alan J. Mighell; Chris F. Inglehearn
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Elevated Plasma Complement Factors in CRB1-Associated Inherited Retinal Dystrophies
err2025-02-21
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errMoekotte, Lude; Boer, Joke H. de; Hiddingh, Sanne; de Ligt, Aafke; Nguyen, Xuan-Thanh-An; Hoyng, Carel B.; Inglehearn, Chris F.; Mckibbin, Martin; Lamey, Tina M.; Thompson, Jennifer A.; Chen, Fred K.; Mclaren, Terri L.; Altalbishi, Alaa; Panneman, Daan M.; Boonen, Erica G. M.; Banfi, Sandro; Bocquet, Beatrice; Meunier, Isabelle; De Baere, Elfride; Koenekoop, Robert; Oldak, Monika; Rivolta, Carlo; Roberts, Lisa; Ramesar, Raj; Strupaite-Sileikiene, Rasa; Kohl, Susanne; Farrar, G. Jane; van Vugt, Marion; van Setten, Jessica; Roosing, Susanne; van den Born, L. Ingeborgh; Boon, Camiel J. F.; Genderen, Maria M. van; Kuiper, Jonas J. W.
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Glycogen myophosphorylase loss causes increased dependence on glucose in iPSC-derived retinal pigment epithelium
err2024-08-01
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errBasu, Basudha; Karwatka, Magdalena; China, Becky; Mckibbin, Martin; Khan, Kamron; Inglehearn, Chris F.; Ladbury, John E.; Johnson, Colin A.
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PRPF8-mediated dysregulation of hBrr2 helicase disrupts human spliceosome kinetics and 5-splice-site selection causing tissue-specific defects
err2024-04-11
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errAtkinson, Robert; Georgiou, Maria; Yang, Chunbo; Szymanska, Katarzyna; Lahat, Albert; Vasconcelos, Elton J. R.; Ji, Yanlong; Molina, Marina Moya; Collin, Joseph; Queen, Rachel; Dorgau, Birthe; Watson, Avril; Kurzawa-Akanbi, Marzena; Laws, Ross; Saxena, Abhijit; Beh, Chia Shyan; Siachisumo, Chileleko; Goertler, Franziska; Karwatka, Magdalena; Davey, Tracey; Inglehearn, Chris F.; Mckibbin, Martin; Luehrmann, Reinhard; Steel, David H.; Elliott, David J.; Armstrong, Lyle; Urlaub, Henning; Ali, Robin R.; Grellscheid, Sushma-Nagaraja; Johnson, Colin A.; Mozaffari-Jovin, Sina; Lako, Majlinda
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Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability
err2024-03-08
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errSmith, Claire E. L.; Laugel-Haushalter, Virginie; Hany, Ummey; Best, Sunayna; Taylor, Rachel L.; Poulter, James A.; Wortmann, Saskia B.; Feichtinger, Rene G.; Mayr, Johannes A.; Al Bahlani, Suhaila; Nikolopoulos, Georgios; Rigby, Alice; Black, Graeme C.; Watson, Christopher M.; Mansour, Sahar; Inglehearn, Chris F.; Mighell, Alan J.; Bloch-Zupan, Agnes
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Novel Ameloblastin Variants, Contrasting Amelogenesis Imperfecta Phenotypes
err2023-12-06
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errHany, U.; Watson, C. M.; Liu, L.; Nikolopoulos, G.; Smith, C. E. L.; Poulter, J. A.; Brown, C. J.; Patel, A.; Rodd, H. D.; Balmer, R.; Harfoush, A.; Al-Jawad, M.; Inglehearn, C. F.; Mighell, A. J.
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Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta
err2023-11-18
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errHany, Ummey; Watson, Christopher M.; Liu, Lu; Smith, Claire E. L.; Harfoush, Asmaa; Poulter, James A.; Nikolopoulos, Georgios; Balmer, Richard; Brown, Catriona J.; Patel, Anesha; Simmonds, Jenny; Charlton, Ruth; Acosta de Camargo, Maria Gabriela; Rodd, Helen D.; Jafri, Hussain; Antanaviciute, Agne; Moffat, Michelle; Al-Jawad, Maisoon; Inglehearn, Chris F.; Mighell, Alan J.
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Haplotyping Using Long-Range PCR and Nanopore Sequencing to Phase Variants: Lessons Learned From the ABCA4 Locus
err2023-08-01
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errMcClinton, Benjamin; Watson, Christopher M.; Crinnion, Laura A.; McKibbin, Martin; Ali, Manir; Inglehearn, Chris F.; Toomes, Carmel
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Re: Yahya et al.: Late-onset autosomal dominant macular degeneration caused by deletion of the CRX gene (Ophthalmology. 2023;130:68-76) Reply
err2023-03-01
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errInglehearn, Chris F.; Yahya, Samar; Smith, Claire E. L.; Poulter, James A.; Ali, Manir; Toomes, Carmel; Ellingford, Jamie; Black, Graeme C.; Arno, Gavin; Webster, Andrew R.
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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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Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy
err2022-11-01
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errvan de Sompele, Stijn; Small, Kent W.; Cicekdal, Munevver Burcu; Soriano, Victor Lopez; D'haene, Eva; Shaya, Fadi S.; Agemy, Steven; van der Snickt, Thijs; Rey, Alfredo Duenas; Rosseel, Toon; Van Heetvelde, Mattias; Vergult, Sarah; Balikova, Irina; Bergen, Arthur A.; Boon, Camiel J. F.; De Zaeytijd, Julie; Inglehearn, Chris F.; Kousal, Bohdan; Leroy, Bart P.; Rivolta, Carlo; Vaclavik, Veronika; van den Ende, Jenneke; van Schooneveld, Mary J.; Gomez-Skarmeta, Jose Luis; Tena, Juan J.; Martinez-Morales, Juan R.; Liskova, Petra; Vleminckx, Kris; De Baere, Elfride
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PDZD8 Disruption Causes Cognitive Impairment in Humans, Mice, and Fruit Flies
err2022-08-01
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errAl-Amri, Ahmed H.; Armstrong, Paul; Amici, Mascia; Ligneul, Clemence; Rouse, James; El-Asrag, Mohammed E.; Pantiru, Andreea; Vancollie, Valerie E.; Ng, Hannah W. Y.; Ogbeta, Jennifer A.; Goodchild, Kirstie; Ellegood, Jacob; Lelliott, Christopher J.; Mullins, Jonathan G. L.; Bretman, Amanda; Al-Ali, Ruslan; Beetz, Christian; Al-Gazali, Lihadh; Al Shamsi, Aisha; Lerch, Jason P.; Mellor, Jack R.; Al Sayegh, Abeer; Ali, Manir; Inglehearn, Chris F.; Clapcote, Steven J.
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Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach
err2022-06-28
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errBest, Sunayna; Yu, Jing; Lord, Jenny; Roche, Matthew; Watson, Christopher Mark; Bevers, Roel P. J.; Stuckey, Alex; Madhusudhan, Savita; Jewell, Rosalyn; Sisodiya, Sanjay M.; Lin, Siying; Turner, Stephen; Robinson, Hannah; Leslie, Joseph S.; Baple, Emma; Toomes, Carmel; Inglehearn, Chris; Wheway, Gabrielle; Johnson, Colin A.
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Bi-allelic mutation of CTNNB1 causes a severe form of syndromic microphthalmia, persistent foetal vasculature and vitreoretinal dysplasia
err2022-03-04
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errTaylor, Rachel L.; Soriano, Carla Sanjuro; Williams, Simon; Dzulova, Denisa; Ashworth, Jane; Hall, Georgina; Gale, Theodora; Lloyd, I. Christopher; Inglehearn, Chris F.; Toomes, Carmel; Douzgou, Sofia; Black, Graeme C.
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