High-throughput STELA provides a rapid test for the diagnosis of telomere biology disorders.
Human Genetics
Norris, Kevin K; Walne, Amanda J AJ; Ponsford, Mark J MJ; Cleal, Kez K; Grimstead, Julia W JW; Ellison, Alicia A; Alnajar, Jenna J; Dokal, Inderjeet I; Vulliamy, Tom T; Baird, Duncan M DM
Publication Date: 2021-06
Variant appearance in text: TERT: 2329G>T; Val777Leu
Biotinylated amplicon sequencing: A method for preserving DNA samples of limited quantity.
Practical Laboratory Medicine
Cravero, Karen K; Medford, Arielle A; Pallavajjala, Aparna A; Canzoniero, Jenna J; Hunter, Natasha N; Chu, David D; Cochran, Rory L RL; Waters, Ian I; Christenson, Eric S ES; Kyker-Snowman, Kelly K; Button, Berry B; Cole, Alex J AJ; Park, Ben Ho BH
Genetic analysis of uterine adenosarcomas and phyllodes tumors of the breast.
Molecular Oncology
Geyer, Felipe C FC; Burke, Kathleen A KA; Piscuoglio, Salvatore S; Ng, Charlotte K Y CKY; Papanastasiou, Anastasios D AD; Marchiò, Caterina C; Selenica, Pier P; Edelweiss, Marcia M; Murray, Melissa P MP; Brogi, Edi E; Soslow, Robert A RA; Rubin, Brian P BP; Norton, Larry L; Reis-Filho, Jorge S JS; Weigelt, Britta B
Multiple Mechanisms Contribute to the Cell Growth Defects Imparted by Human Telomerase Insertion in Fingers Domain Mutations Associated with Premature Aging Diseases.
Triallelic and epigenetic-like inheritance in human disorders of telomerase.
Blood
Collopy, Laura C LC; Walne, Amanda J AJ; Cardoso, Shirleny S; de la Fuente, Josu J; Mohamed, Mahfuzah M; Toriello, Helga H; Tamary, Hannah H; Ling, Adam J Y V AJ; Lloyd, Timothy T; Kassam, Rebecca R; Tummala, Hemanth H; Vulliamy, Thomas J TJ; Dokal, Inderjeet I