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

Germline pathogenic variants in neuroblastoma patients are enriched in BARD1 and predict worse survival

神经母细胞瘤患者的种系致病变异富集于BARD1基因,并预示着更差的生存期。

Kim, Jung; Vaksman, Zalman; Egolf, Laura E; Kaufman, Rebecca; Evans, J Perry; Conkrite, Karina L; Danesh, Arnavaz; Lopez, Gonzalo; Randall, Michael P; Dent, Maiah H; Farra, Lance M; Menghani, Neil L; Dymek, Malwina; Desai, Heena; Hausler, Ryan; Hicks, Belynda; Guidry Auvil, Jaime; Gerhard, Daniela S; Hakonarson, Hakon; Maxwell, Kara N; Cole, Kristina A; Pugh, Trevor J; Bosse, Kristopher R; Khan, Javed; Wei, Jun S; Maris, John M; Stewart, Douglas R; Diskin, Sharon J

Germline pathogenic variants in 786 neuroblastoma patients

786例神经母细胞瘤患者的种系致病变异

Kim, Jung; Vaksman, Zalman; Egolf, Laura E; Kaufman, Rebecca; Evans, J Perry; Conkrite, Karina L; Danesh, Arnavaz; Lopez, Gonzalo; Randall, Michael P; Dent, Maiah H; Farra, Lance M; Menghani, Neil; Dymek, Malwina; Desai, Heena; Hausler, Ryan; Guidry Auvil, Jaime M; Gerhard, Daniela S; Hakonarson, Hakon; Maxwell, Kara N; Cole, Kristina A; Pugh, Trevor J; Bosse, Kristopher R; Khan, Javed; Wei, Jun S; Maris, John M; Stewart, Douglas R; Diskin, Sharon J

Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation.

STXBP3 的变异与极早期发病的炎症性肠病、双侧感觉神经性听力损失和免疫失调有关

Ouahed Jodie, Kelsen Judith R, Spessott Waldo A, Kooshesh Kameron, Sanmillan Maria L, Dawany Noor, Sullivan Kathleen E, Hamilton Kathryn E, Slowik Voytek, Nejentsev Sergey, Neves João Farela, Flores Helena, Chung Wendy K, Wilson Ashley, Anyane-Yeboa Kwame, Wou Karen, Jain Preti, Field Michael, Tollefson Sophia, Dent Maiah H, Li Dalin, Naito Takeo, McGovern Dermot P B, Kwong Andrew C, Taliaferro Faith, Ordovas-Montanes Jose, Horwitz Bruce H, Kotlarz Daniel, Klein Christoph, Evans Jonathan, Dorsey Jill, Warner Neil, Elkadri Abdul, Muise Aleixo M, Goldsmith Jeffrey, Thompson Benjamin, Engelhardt Karin R, Cant Andrew J, Hambleton Sophie, Barclay Andrew, Toth-Petroczy Agnes, Vuzman Dana, Carmichael Nikkola, Bodea Corneliu, Cassa Christopher A, Devoto Marcella, Maas Richard L, Behrens Edward M, Giraudo Claudio G, Snapper Scott B