Modern vascular trauma and preparing tomorrow's workforce.

Dhillon NK, Schwed AC, Kundi R, Savage SA, Brenner M, Scalea TM

Polygenic modifiers impact penetrance and expressivity in telomere biology disorders.

Poeschla M, Arora UP, Walne A, McReynolds LJ, Niewisch MR, Giri N, Zeigler LP, Gusev A, Machiela MJ, Tummala H, Savage SA, Sankaran VG

TERT c.3150 G > C (p.K1050N): a founder Ashkenazi Jewish variant associated with telomere biology disorders.

de Andrade KC, Pinto EM, Zhao T, Zeigler LP, Kim J, Giri N, Haley JS, McReynolds LJ, Florez-Vargas O, Phillips AH, Kriwacki RW, Akinniyi SA, Cohen SB, Emerson MR, Smelser DT, Urban GM, Fridman C, Zambetti GP, Bryan TM, Carey DJ, Garcia CK, Stewart DR, Savage SA

Exploring the everyday impacts and memory intervention needs of people with transient epileptic amnesia: A qualitative study.

Savage SA, Cavuoto MG, Pike KE

Germline PARN Variants in Telomere Biology Disorders and Challenges in Variant Curation.

Nurelegne HT, Thompson MB, de Andrade KC, Thompson AS, McReynolds LJ, Niewisch MR, Savage SA

hTERT Increases TRF2 to Induce Telomere Compaction and Extend Cell Replicative Lifespan.

Adam N, Yang Y, Djamshidi M, Seifan S, Ting NSY, Glover J, Touret N, Gordon PMK, Vineetha Warriyar KV, Krowicki H, Garcia CK, Savage SA, Goodarzi AA, Baird DM, Beattie TL, Riabowol K

Identification of biallelic POLA2 variants in two families with an autosomal recessive telomere biology disorder.

Kvarnung M, Pettersson M, Chun-On P, Rafati M, McReynolds LJ, Norberg A, Moura PL, Pesonen I, Chaireti R, GrĂśnros SĂśderholm B, Burlin J, RydĂŠn J, Lindberg EH, Giri N, Savage SA, Agarwal S, Nordgren A, Tesi B

Loss of Ten1 in mice induces telomere shortening and models human dyskeratosis congenita.

Sanz-Moreno A, Becker L, Xie K, da Silva-Buttkus P, Dragano NRV, Aguilar-Pimentel A, Amarie OV, Calzada-Wack J, Kraiger M, Leuchtenberger S, Seisenberger C, Marschall S, Rathkolb B, Scifo E, Liu T, Thanabalasingam A, Sanchez-Vazquez R, Martinez P, Blasco MA, Savage SA, Fuchs H, Ehninger D, Gailus-Durner V, de Angelis MH

Donor telomeres and their magnitude of shortening post-allogeneic haematopoietic cell transplant impact survival for patients with early-stage leukaemia or myelodysplastic syndrome.

Gadalla SM, Katki HA, Lai TP, Auer PL, Dagnall CL, Bupp C, Hutchinson AA, Anderson JJ, Mendez KJW, Spellman SR, Stewart V, Savage SA, Lee SJ, Levine JE, Saber W, Aviv A

Telomeres and Human Disease.

Savage SA

Genetic regulation of TERT splicing affects cancer risk by altering cellular longevity and replicative potential.

Florez-Vargas O, Ho M, Hogshead MH, Papenberg BW, Lee CH, Forsythe K, Jones K, Luo W, Teshome K, Blauwendraat C, Billingsley KJ, Kolmogorov M, Meredith M, Paten B, Chari R, Zhang C, Schneekloth JS, Machiela MJ, Chanock SJ, Gadalla SM, Savage SA, Mbulaiteye SM, Prokunina-Olsson L

Advancements in microsurgery: A comprehensive systematic review of artificial intelligence applications.

Savage SA, Seth I, Angus ZG, Rozen WM

Germline RTEL1 Variants in Telomere Biology Disorders.

Thompson AS, Niewisch MR, Giri N, McReynolds LJ, Savage SA

Different phenotypes with different endings-Telomere biology disorders and cancer predisposition with long telomeres.

Savage SA, Bertuch AA, Team Telomere and the Clinical Care Consortium for Telomere‐Associated Ailments (CCCTAA)

Crying in the Wilderness"-The Use of Web-Based Support in Telomere Biology Disorders: Thematic Analysis.

Pearce EE, Majid A, Brown T, Shepherd RF, Rising C, Wilsnack C, Thompson AS, Gilkey MB, Ribisl KM, Lazard AJ, Han PK, Werner-Lin A, Hutson SP, Savage SA