| Antisense therapy for a common corneal dystrophy ameliorates TCF4 repeat expansion-mediated toxicity C Zarouchlioti, B Sanchez-Pintado, NJH Tear, P Klein, P Liskova, K Dulla, ... The American Journal of Human Genetics 102 (4), 528-539, 2018 | 73 | 2018 |
| CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy–associated TCF4 triplet repeat NJ Hafford-Tear, YC Tsai, AN Sadan, B Sanchez-Pintado, C Zarouchlioti, ... Genetics in Medicine 21 (9), 2092-2102, 2019 | 59 | 2019 |
| TCF4-mediated Fuchs endothelial corneal dystrophy: Insights into a common trinucleotide repeat-associated disease MP Fautsch, ED Wieben, KH Baratz, N Bhattacharyya, AN Sadan, ... Progress in retinal and eye research 81, 100883, 2021 | 56 | 2021 |
| The utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosis L Dudakova, CJ Evans, N Pontikos, NJ Hafford-Tear, F Malinka, ... Experimental eye research 182, 160-166, 2019 | 13 | 2019 |
| Repeat Detector: versatile sizing of expanded tandem repeats and identification of interrupted alleles from targeted DNA sequencing AS Taylor, D Barros, N Gobet, T Schuepbach, B McAllister, L Aeschbach, ... NAR Genomics and Bioinformatics 4 (4), lqac089, 2022 | 6 | 2022 |
| Posterior corneal vesicles are not associated with the genetic variants that cause posterior polymorphous corneal dystrophy P Liskova, NJ Hafford‐Tear, P Skalicka, F Malinka, J Jedlickova, ... Acta Ophthalmologica 100 (7), e1426-e1430, 2022 | 3 | 2022 |
| CUGC for posterior polymorphous corneal dystrophy (PPCD) AE Davidson, NJ Hafford-Tear, L Dudakova, AN Sadan, N Pontikos, ... European Journal of Human Genetics 28 (1), 126-131, 2020 | 3 | 2020 |
| Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease N Bhattacharyya, N Chai, NJ Hafford-Tear, AN Sadan, A Szabo, ... PLoS Genetics 20 (5), e1011230, 2024 | 1 | 2024 |
| Genetically refined and unsolved inherited corneal disease cohort offers opportunities for novel genomic discovery MA Costa, A Szabo, N Bhattacharyya, C Zarouchlioti, N Hafford-Tear, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 373-374, 2024 | | 2024 |
| Deciphering novel TCF4-driven molecular origins and mechanisms underlying a common triplet repeat expansion-mediated disease N Bhattacharyya, N Hafford-Tear, A Sadan, A Szabo, N Chai, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 375-375, 2024 | | 2024 |
| Utilising a CTG18. 1 expansion-negative Fuchs endothelial corneal dystrophy cohort to identify novel genetic risk loci A Szabo, C Zarouchlioti, N Bhattacharyya, A Sadan, N Hafford-Tear, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 791-791, 2024 | | 2024 |
| Prevalence of posterior polymorphous corneal dystrophy type 3 in the Czech population P Liskova, J Jedlickova, AE Davidson, NJ Hafford-Tear, L Dudakova, ... Investigative Ophthalmology & Visual Science 64 (8), 616-616, 2023 | | 2023 |
| Unravelling molecular mechanisms underlying inherited corneal endothelial disease N Hafford Tear UCL (University College London), 2022 | | 2022 |
| CTG18. 1-mediated Fuchs endothelial corneal dystrophy: characterizing biomarkers of pathogenicity in patients with rare intermediate triplet repeat expansions N Bhattacharyya, A Sadan, C Zarouchlioti, NJ Hafford-Tear, K Muthusamy, ... Investigative Ophthalmology & Visual Science 63 (7), 1588–A0377-1588–A0377, 2022 | | 2022 |
| A refined amplification-free long-read sequencing method to interrogate TCF4 triplet repeats associated with Fuchs endothelial corneal dystrophy C Zarouchlioti, NJ Hafford-Tear, YC Tsai, A Szabo, N Bhattacharyya, ... Investigative Ophthalmology & Visual Science 63 (7), 2-2, 2022 | | 2022 |
| CTG18. 1-mediated Fuchs Endothelial Corneal Dystrophy: defining signatures of transcriptomic dysregulation in a common repeat-mediated disease N Bhattacharyya, NJ Hafford-Tear, AN Sadan, C Zarouchlioti, ... EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 44-44, 2022 | | 2022 |
| Investigation of transcriptional dysregulation events driving Posterior Polymorphous Corneal Dystrophy type 1 NJ Hafford-Tear, L Dudakova, SJ Tuft, A Sadan, N Bhattacharyya, ... EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 135-135, 2022 | | 2022 |
| Repeat Detector: accurate, efficient, and flexible sizing of expanded CAG/CTG repeats from targeted DNA sequencing AS Taylor, D Barros, N Gobet, T Schuepbach, B McAllister, L Aeschbach, ... bioRxiv, 2022.03. 08.483398, 2022 | | 2022 |
| CTG18. 1-mediated Fuchs Endothelial Corneal Dystrophy: defining unique signatures of transcriptomic dysregulation N Bhattacharyya, N Hafford-Tear, AN Sadan, C Zarouchlioti, ... Investigative Ophthalmology & Visual Science 62 (8), 1454-1454, 2021 | | 2021 |
| Investigation of transcriptional dysregulation events driving Posterior Polymorphous Corneal Dystrophy type 1 N Hafford-Tear, L Dudakova, SJ Tuft, AN Sadan, N Bhattacharyya, ... Investigative Ophthalmology & Visual Science 62 (8), 1450-1450, 2021 | | 2021 |
