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

H3K36 Methylation as a Guardian of Epigenome Integrity

H3K36甲基化作为表观基因组完整性的守护者

Padilla, Reinnier; Shipman, Gerry A; Horth, Cynthia; Gravel, Michel; Bareke, Eric; Majewski, Jacek

Spatiotemporal diversity in molecular and functional abnormalities in the mdx dystrophic brain.

mdx营养不良脑中分子和功能异常的时空多样性

Pomeroy Joanna, Borczyk Malgorzata, Kawalec Maria, Hajto Jacek, Carlson Emma, Svärd Samuel, Verma Suraj, Bareke Eric, Boratyńska-Jasińska Anna, Dymkowska Dorota, Mellado-Ibáñez Alvaro, Laight David, Zabłocki Krzysztof, Occhipinti Annalisa, Majewska Loydie, Angione Claudio, Majewski Jacek, Yegutkin Gennady G, Korostynski Michal, Zabłocka Barbara, Górecki Dariusz C

Cellular reprogramming of H3K27M pediatric high-grade glioma to neuron-like state

将H3K27M突变型儿童高级别胶质瘤细胞重编程为神经元样状态

Uthamacumaran, Abicumaran; Horth, Cynthia; Bareke, Eric; Gravel, Michel; Majewski, Jacek

Using multiple modalities to confirm diagnosis in patients with suspected peroxisome biogenesis disorders.

采用多种方法确诊疑似过氧化物酶体生物合成障碍患者

Cheung Anthony C T, Di Pietro Erminia, Argyriou Catherine, Bareke Eric, D'Souza Yasmin, Puri Ratna Dua, Muhammed Shabeer P, Ganetzky Rebecca, Goldstein Amy, Vanderver Adeline, Mohan Shruthi, Majewski Jacek, Yergeau Christine, Braverman Nancy

ChIPbinner: an R package for analyzing broad histone marks binned in uniform windows from ChIP-Seq or CUT&RUN/TAG data

ChIPbinner:一个用于分析从 ChIP-Seq 或 CUT&RUN/TAG 数据中按均匀窗口分箱的广泛组蛋白标记的 R 包

Padilla, Reinnier; Bareke, Eric; Hu, Bo; Majewski, Jacek

Two Novel Protein-Truncating Variants in NLRP2 and Their Functional Impacts on the Subcortical Maternal Complex

NLRP2 中两种新型蛋白质截短变体及其对皮层下母体复合体的功能影响

Yalcin, Zeynep; Gao, Zheng; Abdelrazek, Ibrahim M; Bareke, Eric; Majewski, Jacek; Abdalla, Ebtesam; Tan, Seang-Lin; Li, Lei; Slim, Rima

Defects in meiosis I contribute to the genesis of androgenetic hydatidiform moles

减数分裂I缺陷是导致雄激素性葡萄胎发生的原因之一。

Rezaei, Maryam; Liang, Manqi; Yalcin, Zeynep; Martin, Jacinta H; Kazemi, Parinaz; Bareke, Eric; Ge, Zhao-Jia; Fardaei, Majid; Benadiva, Claudio; Hemida, Reda; Hassan, Adnan; Maher, Geoffrey J; Abdalla, Ebtesam; Buckett, William; Bolze, Pierre-Adrien; Sandhu, Iqbaljit; Duman, Onur; Agrawal, Suraksha; Qian, JianHua; Vallian Broojeni, Jalal; Bhati, Lavi; Miron, Pierre; Allias, Fabienne; Selim, Amal; Fisher, Rosemary A; Seckl, Michael J; Sauthier, Philippe; Touitou, Isabelle; Tan, Seang Lin; Majewski, Jacek; Taketo, Teruko; Slim, Rima

A report of two homozygous TERB1 protein-truncating variants in two unrelated women with primary infertility

两名互不相关的原发性不孕症女性携带两种纯合TERB1蛋白截短变异的报告

Yalcin, Zeynep; Liang, Manqi; Abdelrazek, Ibrahim M; Friedrich, Corinna; Bareke, Eric; Nabil, Amira; Tüttelmann, Frank; Majewski, Jacek; Abdalla, Ebtesam; Tan, Seang-Lin; Slim, Rima

A homozygous stop codon in HORMAD2 in a patient with recurrent digynic triploid miscarriage

一名患有复发性双胎三倍体流产的患者,其 HORMAD2 基因中存在纯合终止密码子

Liang, Manqi; Suresh, Beena; Bareke, Eric; Choufani, Sanaa; Jagadeesh, Sujatha; Weksberg, Rosanna; Majewski, Jacek; Slim, Rima

The Mutational Spectrum of Pre- and Post-Neoadjuvant Chemotherapy Triple-Negative Breast Cancers

新辅助化疗前后三阴性乳腺癌的突变谱

Aguilar-Mahecha, Adriana; Alirezaie, Najmeh; Lafleur, Josiane; Bareke, Eric; Przybytkowski, Ewa; Lan, Cathy; Cavallone, Luca; Salem, Myriam; Pelmus, Manuela; Aleynikova, Olga; Greenwood, Celia; Lovato, Amanda; Ferrario, Cristiano; Boileau, Jean-François; Mihalcioiu, Catalin; Roy, Josée-Anne; Marcus, Elizabeth; Discepola, Federico; Majewski, Jacek; Basik, Mark