1. 580 MitoPhen: A human phenotype ontology-based tool to identify mitochondrial DNA disease. (17th August 2022) Authors: Ratnaike, Thiloka; Greene, Daniel; Paramanov, Ida; Matalonga, Leslie; Schon, Katherine; Ameele, Jelle van den; Horvath, Rita; Turro, Ernest; Chinnery, Patrick Journal: Archives of disease in childhood Issue: Volume 107(2022)Supplement 2 Page Start: A224 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 814 CHEERI: an ambition to enable more paediatric research opportunities for trainees in the East of England. (17th August 2022) Authors: Varma, Rachana; Shekhar, Lipi; Ratnaike, Thiloka; Marlow, Ben Journal: Archives of disease in childhood Issue: Volume 107(2022)Supplement 2 Page Start: A499 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Mitochondrial Diseases: A Diagnostic Revolution. Issue 9 (September 2020) Authors: Schon, Katherine R.; Ratnaike, Thiloka; van den Ameele, Jelle; Horvath, Rita; Chinnery, Patrick F. Journal: Trends in genetics Issue: Volume 36:Issue 9(2020) Page Start: 702 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study. (3rd November 2021) Authors: Schon, Katherine R; Horvath, Rita; Wei, Wei; Calabrese, Claudia; Tucci, Arianna; Ibañez, Kristina; Ratnaike, Thiloka; Pitceathly, Robert D S; Bugiardini, Enrico; Quinlivan, Rosaline; Hanna, Michael G; Clement, Emma; Ashton, Emma; Sayer, John A; Brennan, Paul; Josifova, Dragana; Izatt, Louise; Fra... Other Names: author non-byline.; Ambrose John C author non-byline.; Arumugam Prabhu author non-byline.; Bevers Roel author non-byline.; Bleda Marta author non-byline.; Boardman-Pretty Freya author non-byline.; Boustred Christopher R author non-byline.; Brittain Helen author non-byline.; Caulfield Mark J auth... Journal: BMJ Issue: Volume 375(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗