日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases

结构和非编码变异提高了罕见疾病临床全基因组测序的诊断率

Alistair T Pagnamenta #, Carme Camps #, Edoardo Giacopuzzi #, John M Taylor #, Mona Hashim, Eduardo Calpena, Pamela J Kaisaki, Akiko Hashimoto, Jing Yu, Edward Sanders, Ron Schwessinger, Jim R Hughes, Gerton Lunter, Helene Dreau, Matteo Ferla, Lukas Lange, Yesim Kesim, Vassilis Ragoussis, Dimitrios

Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening

与免疫功能障碍和心肌病相关的双等位基因MCM10变异会导致端粒缩短。

Ryan M Baxley ,Wendy Leung # ,Megan M Schmit # ,Jacob Peter Matson # ,Lulu Yin ,Marissa K Oram ,Liangjun Wang ,John Taylor ,Jack Hedberg ,Colette B Rogers ,Adam J Harvey ,Debashree Basu ,Jenny C Taylor ,Alistair T Pagnamenta ,Helene Dreau ,Jude Craft ,Elizabeth Ormondroyd ,Hugh Watkins ,Eric A Hendrickson ,Emily M Mace ,Jordan S Orange ,Hideki Aihara ,Grant S Stewart ,Edward Blair ,Jeanette Gowen Cook ,Anja-Katrin Bielinsky

SAMHD1 is mutated recurrently in chronic lymphocytic leukemia and is involved in response to DNA damage

SAMHD1 在慢性淋巴细胞白血病中反复发生突变,并参与对 DNA 损伤的反应

Ruth Clifford, Tania Louis, Pauline Robbe, Sam Ackroyd, Adam Burns, Adele T Timbs, Glen Wright Colopy, Helene Dreau, Francois Sigaux, Jean Gabriel Judde, Margalida Rotger, Amalio Telenti, Yea-Lih Lin, Philippe Pasero, Jonathan Maelfait, Michalis Titsias, Dena R Cohen, Shirley J Henderson, Mark T Ros