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SaveGenetic and Demographic Determinants of Fuchs Endothelial Corneal Dystrophy Risk and Severity
Liu, 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. Share Save Tissue-specific TCF4 triplet repeat instability revealed by optical genome mappingZarouchlioti, 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. Share Save Autosomal dominant stromal corneal dystrophy associated with a SPARCL1 missense variantBraddock, 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. Share Save Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita (vol 109, pg 1472, 2022)Tummala, Hemanth; Walne, Amanda; Buccafusca, Roberto; Alnajar, Jenna; Szabo, Anita; Robinson, Peter; McConkie-Rosell, Allyn; Wilson, Meredith; Crowley, Suzanne; Kinsler, Veronica; Ewins, Anna-Maria; Madapura, Pradeepa M.; Patel, Manthan; Pontikos, Nikolas; Codd, Veryan; Vulliamy, Tom; Dokal, Inderjeet Share Save Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated diseaseBhattacharyya, 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. Share Save Share Save Personalized Model to Predict Keratoconus Progression From Demographic, Topographic, and Genetic DataMaile, 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. Share Save Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenitaTummala, Hemanth; Walne, Amanda; Buccafusca, Roberto; Alnajar, Jenna; Szabo, Anita; Robinson, Peter; McConkie-Rosell, Allyn; Wilson, Meredith; Crowley, Suzanne; Kinsler, Veronica; Ewins, Anna-Maria; Madapura, Pradeepa M.; Patel, Manthan; Pontikos, Nikolas; Codd, Veryan; Vulliamy, Tom; Dokal, Inderjeet Share Save Machine Learning Algorithms to Detect Subclinical Keratoconus: Systematic ReviewMaile, 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 Share Save Share Save 
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