1. Pathogenic variants in HTRA2 cause an early‐onset mitochondrial syndrome associated with 3‐methylglutaconic aciduria. Issue 1 (30th September 2016) Authors: Oláhová, Monika; Thompson, Kyle; Hardy, Steven A.; Barbosa, Inês A.; Besse, Arnaud; Anagnostou, Maria‐Eleni; White, Kathryn; Davey, Tracey; Simpson, Michael A.; Champion, Michael; Enns, Greg; Schelley, Susan; Lightowlers, Robert N.; Chrzanowska‐Lightowlers, Zofia M. A.; McFarland, Robert; Deshpan... Journal: Journal of inherited metabolic disease Issue: Volume 40:Issue 1(2017) Page Start: 121 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis. Issue 3 (17th February 2019) Authors: Hayhurst, Hannah; de Coo, Irenaeus F. M.; Piekutowska‐Abramczuk, Dorota; Alston, Charlotte L.; Sharma, Sunil; Thompson, Kyle; Rius, Rocio; He, Langping; Hopton, Sila; Ploski, Rafal; Ciara, Elzbieta; Lake, Nicole J.; Compton, Alison G.; Delatycki, Martin B.; Verrips, Aad; Bonnen, Penelope E.; Jone... Journal: Annals of clinical and translational neurology Issue: Volume 6:Issue 3(2019) Page Start: 515 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late‐onset disorder of mitochondrial DNA maintenance. Issue 2 (14th November 2019) Authors: Sommerville, Ewen W.; Dalla Rosa, Ilaria; Rosenberg, Masha M.; Bruni, Francesco; Thompson, Kyle; Rocha, Mariana; Blakely, Emma L.; He, Langping; Falkous, Gavin; Schaefer, Andrew M.; Yu‐Wai‐Man, Patrick; Chinnery, Patrick F.; Hedstrom, Lizbeth; Spinazzola, Antonella; Taylor, Robert W.; Gorman, Grá... Journal: Clinical genetics Issue: Volume 97:Issue 2(2020) Page Start: 276 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Characterising a homozygous two‐exon deletion in UQCRH: comparing human and mouse phenotypes. Issue 12 (8th November 2021) Authors: Vidali, Silvia; Gerlini, Raffaele; Thompson, Kyle; Urquhart, Jill E; Meisterknecht, Jana; Aguilar‐Pimentel, Juan Antonio; Amarie, Oana V; Becker, Lore; Breen, Catherine; Calzada‐Wack, Julia; Chhabra, Nirav F; Cho, Yi‐Li; da Silva‐Buttkus, Patricia; Feichtinger, René G; Gampe, Kristine; Garrett, L... Journal: EMBO molecular medicine Issue: Volume 13:Issue 12(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease. Issue 4 (11th September 2021) Authors: Zheng, Wen-Qiang; Pedersen, Signe Vandal; Thompson, Kyle; Bellacchio, Emanuele; French, Courtney E; Munro, Benjamin; Pearson, Toni S; Vogt, Julie; Diodato, Daria; Diemer, Tue; Ernst, Anja; Horvath, Rita; Chitre, Manali; Ek, Jakob; Wibrand, Flemming; Grange, Dorothy K; Raymond, Lucy; Zhou, Xiao-Lo... Journal: Human molecular genetics Issue: Volume 31:Issue 4(2022) Page Start: 523 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Ground-Vehicle Relative Position Estimation with UWB Ranges and a Vehicle Dynamics Model. Issue 37 (2022) Authors: Jones, Ben; Thompson, Kyle; Pierce, Dan; Martin, Scott; Bevly, David Journal: IFAC-PapersOnLine Issue: Volume 55:Issue 37(2022) Page Start: 681 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Granular activated carbon‐based treatment and mobility of per‐ and polyfluoroalkyl substances in potable reuse for aquifer recharge. Issue 5 (24th September 2021) Authors: Gonzalez, Dana; Thompson, Kyle; Quiñones, Oscar; Dickenson, Eric; Bott, Charles Journal: AWWA water science Issue: Volume 3:Issue 5(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Clinical presentation and proteomic signature of patients with TANGO2 mutations. Issue 2 (13th August 2019) Authors: Mingirulli, Nadja; Pyle, Angela; Hathazi, Denisa; Alston, Charlotte L.; Kohlschmidt, Nicolai; O'Grady, Gina; Waddell, Leigh; Evesson, Frances; Cooper, Sandra B. T.; Turner, Christian; Duff, Jennifer; Topf, Ana; Yubero, Delia; Jou, Cristina; Nascimento, Andrés; Ortez, Carlos; García‐Cazorla, Angel... Journal: Journal of inherited metabolic disease Issue: Volume 43:Issue 2(2020) Page Start: 297 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Recent advances in understanding the molecular genetic basis of mitochondrial disease. Issue 1 (10th May 2019) Authors: Thompson, Kyle; Collier, Jack J.; Glasgow, Ruth I. C.; Robertson, Fiona M.; Pyle, Angela; Blakely, Emma L.; Alston, Charlotte L.; Oláhová, Monika; McFarland, Robert; Taylor, Robert W. Journal: Journal of inherited metabolic disease Issue: Volume 43:Issue 1(2020) Page Start: 36 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. The physiology of failure: Identifying risk factors for mortality in emergency general surgery patients using a regional health system integrated electronic medical record. Issue 3 (12th September 2022) Authors: Baimas-George, Maria; Ross, Samuel W.; Hetherington, Timothy; Kowalkowski, Marc; Wang, Huaping; Thompson, Kyle; Cunningham, Kyle; Matthews, Brent D.; May, Addison K.; Reinke, Caroline E. Journal: Journal of trauma and acute care surgery Issue: Volume 93:Issue 3(2022) Page Start: 409 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗