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

Expanding the Genetic and Phenotypic Spectrum of POLRMT-Related Mitochondrial Disease

扩展POLRMT相关线粒体疾病的遗传和表型谱

Fassad, Mahmoud R; Valenzuela, Sebastian; Oláhová, Monika; Collier, Jack J; Knowles, Charlotte V Y; Mavraki, Eleni; Elbracht, Miriam; Güzel, Nergis; Herberhold, Thomas; Kurth, Ingo; Maier, Andrea; Mattern, Larissa; Saunders, Carol; McCullagh, Helen; Õunap, Katrin; Wortmann, Saskia B; Reis, Andre; Zhang, Lei; Gustafsson, Claes M; McFarland, Robert; Taylor, Robert W

Targeted sequencing and iterative assembly of near-complete genomes

靶向测序和近乎完整基因组的迭代组装

Gamaarachchi, Hasindu; Stevanovski, Igor; Hammond, Jillian M; M Reis, Andre L; Rapadas, Melissa; Jayasooriya, Kavindu; Russell, Tonia; Yeow, Dennis; Hort, Yvonne; Patel, Chirag; Mallett, Andrew J; Stackpoole, Elaine; Roman, Lauren; Silver, Luke W; Hogg, Carolyn J; Streeting, Louise M; Bogdanovic, Ozren; Coelho Rodrigues Noronha, Renata; Santos do Nascimento, Luís Adriano; Lima Cardoso, Adauto; Georges, Arthur; Cheng, Haoyu; Patel, Hardip R; Kumar, Kishore Raj; Mallawaarachchi, Amali C; Deveson, Ira W

Limited association between HRR gene alterations and HRD in molecular tumor board cancer samples: Who should be tested for HRD?

分子肿瘤委员会癌症样本中 HRR 基因改变与 HRD 之间的关联有限:哪些人应该接受 HRD 检测?

Schubart, Christoph; Tögel, Lars; Carta, Maria Giulia; Hetzner, Philip; Helbig, Lina; Zaglas, Charlotte; Ziegler, Maria; Stöhr, Robert; Hölsken, Annett; Hoyer, Juliane; Ferrazzi, Fulvia; Neufert, Clemens; Lettmaier, Sebastian; Pavel, Marianne; Golcher, Henriette; Mueller, Sarina K; Fuchs, Florian; Schulmeyer, Carla E; Beckmann, Matthias W; Wullich, Bernd; Agaimy, Abbas; Reis, Andre; Hartmann, Arndt; Meidenbauer, Norbert; Spoerl, Silvia; Haller, Florian; Moskalev, Evgeny A

Targeted Long-Read Sequencing as a Single Assay Improves the Diagnosis of Spastic-Ataxia Disorders

靶向长读长测序作为单一检测方法可提高痉挛性共济失调疾病的诊断率

Rudaks, Laura Ivete; Stevanovski, Igor; Yeow, Dennis; Reis, Andre L M; Chintalaphani, Sanjog R; Cheong, Pak Leng; Gamaarachchi, Hasindu; Worgan, Lisa; Ahmad, Kate; Hayes, Michael; Hannaford, Andrew; Kim, Samuel; Fung, Victor S C; Halmagyi, Gabor M; Martin, Andrew; Manser, David; Tchan, Michel; Ng, Karl; Kennerson, Marina L; Deveson, Ira W; Kumar, Kishore Raj

A near telomere-to-telomere phased genome assembly and annotation for the Australian central bearded dragon Pogona vitticeps

对澳大利亚中部髯蜥(Pogona vitticeps)进行了近乎端粒到端粒的基因组组装和注释。

Patel, Hardip R; Alreja, Kirat; Reis, Andre L M; Chang, J King; Chew, Zahra A; Jung, Hyungtaek; Hammond, Jillian M; Deveson, Ira W; Ruiz-Herrera, Aurora; Marin-Gual, Laia; Holleley, Clare E; Zhang, Xiuwen; Lister, Nicholas C; Whiteley, Sarah; Xiong, Lei; Dissanayake, Duminda S B; Waters, Paul D; Georges, Arthur

Sex chromosome dosage compensation in a sex reversing skink is not influenced by sexual phenotype

性逆转石龙子的性染色体剂量补偿不受性表型的影响

Hanrahan, Benjamin J; Chang, J King; Milton, Ashley M; Lister, Nicholas C; Dissanayake, Duminda S B; Hammond, Jillian M; Reis, Andre L M; Deveson, Ira W; Ruiz-Herrera, Aurora; Patel, Hardip R; Graves, Jennifer A Marshall; Georges, Arthur; Waters, Paul D

A novel human organoid model system reveals requirement of TCF4 for oligodendroglial differentiation.

一种新型的人类类器官模型系统揭示了 TCF4 对少突胶质细胞分化的必要性

Furlanetto Federica, Flegel Nicole, Kremp Marco, Spear Chiara, Fröb Franziska, Alfonsetti Margherita, Bohl Bettina, Krumbiegel Mandy, Turan Sören, Reis Andre, Lie Dieter C, Winkler Jürgen, Falk Sven, Wegner Michael, Karow Marisa

A genome assembly and annotation for the Australian alpine skink Bassiana duperreyi using long-read technologies

利用长读长技术对澳大利亚高山石龙子 Bassiana duperreyi 进行基因组组装和注释

Hanrahan, Benjamin J; Alreja, Kirat; Reis, Andre L M; Chang, J King; Dissanayake, Duminda S B; Edwards, Richard J; Bertozzi, Terry; Hammond, Jillian M; O'Meally, Denis; Deveson, Ira W; Georges, Arthur; Waters, Paul; Patel, Hardip R

Polymorphic tandem repeats influence cell type-specific gene expression across the human immune landscape.

多态性串联重复序列影响人类免疫系统中细胞类型特异性基因表达。

Tanudisastro Hope A, Cuomo Anna S E, Weisburd Ben, Welland Matthew, Spenceley Eleanor, Franklin Michael, Xue Angli, Bowen Blake, Wing Kristof, Tang Owen, Gray Michael, Reis Andre L M, Margoliash Jonathan, Kurtas Nehir E, Pullin Jeffrey M, Lee Arthur S, Brand Harrison, Harper Michael, Bobowik Katalina, Silk Michael, Marshall John, Bakiris Vivian, Madala Bindu Swapna, Uren Caitlin, Bartie Caitlin, Senabouth Anne, Dashnow Harriet, Fearnley Liam, Martin-Trujillo Alejandro, Dolzhenko Egor, Qiao Zhen, Grieve Stuart M, Nguyen Tung, Ben-David Eyal, Chen Ling, Farh Kyle Kai-How, Talkowski Michael, Alexander Stephen I, Siggs Owen M, Gruenschloss Leonhard, Nicholas Hannah R, Piscionere Jennifer, Simons Cas, Wallace Chris, Gymrek Melissa, Deveson Ira W, Hewitt Alex W, Figtree Gemma A, de Lange Katrina M, Powell Joseph E, MacArthur Daniel G

A universal molecular control for DNA, mRNA and protein expression

DNA、mRNA和蛋白质表达的通用分子调控机制

Gunter, Helen M; Youlten, Scott E; Reis, Andre L M; McCubbin, Tim; Madala, Bindu Swapna; Wong, Ted; Stevanovski, Igor; Cipponi, Arcadi; Deveson, Ira W; Santini, Nadia S; Kummerfeld, Sarah; Croucher, Peter I; Marcellin, Esteban; Mercer, Tim R