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

Sequencing and curation strategies for identifying candidate glioblastoma treatments

用于识别胶质母细胞瘤候选治疗方案的测序和筛选策略

Mayu O Frank ,Takahiko Koyama ,Kahn Rhrissorrakrai ,Nicolas Robine ,Filippo Utro ,Anne-Katrin Emde ,Bo-Juen Chen ,Kanika Arora ,Minita Shah ,Heather Geiger ,Vanessa Felice ,Esra Dikoglu ,Sadia Rahman ,Alice Fang ,Vladimir Vacic ,Ewa A Bergmann ,Julia L Moore Vogel ,Catherine Reeves ,Depinder Khaira ,Anthony Calabro ,Duyang Kim ,Michelle F Lamendola-Essel ,Cecilia Esteves ,Phaedra Agius ,Christian Stolte ,John Boockvar ,Alexis Demopoulos ,Dimitris G Placantonakis ,John G Golfinos ,Cameron Brennan ,Jeffrey Bruce ,Andrew B Lassman ,Peter Canoll ,Christian Grommes ,Mariza Daras ,Eli Diamond ,Antonio Omuro ,Elena Pentsova ,Dana E Orange ,Stephen J Harvey ,Jerome B Posner ,Vanessa V Michelini ,Vaidehi Jobanputra ,Michael C Zody ,John Kelly ,Laxmi Parida ,Kazimierz O Wrzeszczynski ,Ajay K Royyuru ,Robert B Darnell

Identification of targetable BRAF ΔN486_P490 variant by whole-genome sequencing leading to dabrafenib-induced remission of a BRAF-mutant pancreatic adenocarcinoma

通过全基因组测序鉴定可靶向的 BRAF ΔN486_P490 变体,从而导致达拉非尼诱导 BRAF 突变型胰腺腺癌缓解

Kazimierz O Wrzeszczynski, Sadia Rahman, Mayu O Frank, Kanika Arora, Minita Shah, Heather Geiger, Vanessa Felice, Dina Manaa, Esra Dikoglu, Depinder Khaira, A Rao Chimpiri, Vanessa V Michelini, Vaidehi Jobanputra, Robert B Darnell, Scott Powers, Minsig Choi

Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

3' 核酸外切酶 TOE1 的双等位基因突变导致小脑桥脑发育不全,并揭示了其在 snRNA 加工中的作用

Rea M Lardelli, Ashleigh E Schaffer, Veerle R C Eggens, Maha S Zaki, Stephanie Grainger, Shashank Sathe, Eric L Van Nostrand, Zinayida Schlachetzki, Basak Rosti, Naiara Akizu, Eric Scott, Jennifer L Silhavy, Laura Dean Heckman, Rasim Ozgur Rosti, Esra Dikoglu, Anne Gregor, Alicia Guemez-Gamboa, Dami

PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive

PYCR2 突变导致致命的小头畸形和发育不良综合征

Maha S Zaki, Gifty Bhat, Tipu Sultan, Mahmoud Issa, Hea-Jin Jung, Esra Dikoglu, Laila Selim, Imam G Mahmoud, Mohamed S Abdel-Hamid, Ghada Abdel-Salam, Isaac Marin-Valencia, Joseph G Gleeson

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

SNX14 的双等位基因突变导致小脑萎缩和溶酶体-自噬体功能障碍综合征

Naiara Akizu, Vincent Cantagrel, Maha S Zaki, Lihadh Al-Gazali, Xin Wang, Rasim Ozgur Rosti, Esra Dikoglu, Antoinette Bernabe Gelot, Basak Rosti, Keith K Vaux, Eric M Scott, Jennifer L Silhavy, Jana Schroth, Brett Copeland, Ashleigh E Schaffer, Philip L S M Gordts, Jeffrey D Esko, Matthew D Buschman