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Melanie Bahlo

The Walter and Eliza Hall Institute of Medical Research

76H指数
479论文数
2.1W被引数
收录论文 204
发表时间
SLC7A6OS Founder Mutation: A Rare Cause of Progressive Myoclonus Epilepsy Dated to 1100 Years AgoSLC7A6OS始祖突变:一种可追溯至1100年前的进行性肌阵挛癫痫的罕见病因
err2026-09-18
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errOAAI
errBronwyn E. Grinton BSc; Colin A. Ellis MD; Mered Parnes MD; Laina Lusk Stripe MMSc; Jacob E. Munro MIT; Laure Mazzola MD PhD; Pamela P. McDonnell MD; Betül Baykan MD; Volkan Taşdemir MD; Mariam Hull MD; Krystal Sully MD; Sara Cabet MD PhD; Anna-Elina Lehesjoki MD PhD; Nerses Bebek MD PhD; Melanie Bahlo PhD; Samuel F. Berkovic MD FRS; Gaetan Lesca MD PhD; Karen L. Oliver PhD
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Genetic architecture of MRI-derived cervical spinal cord morphology reveals sensory-motor axis and systemic disease associationsMRI衍生颈椎脊髓形态的遗传结构揭示感觉-运动轴和系统性疾病的关联
err2026-09-16
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errOAAI
errZhuopin Sun; Jiru Han; Zachary F. Gerring; Victoria E. Jackson; Oneil G. Bhalala; Gustavo M. Jarola; Ian H. Harding; Thiago J. R. Rezende; Melanie Bahlo
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Correction: Patient induced pluripotent stem cells identify specificities of a reticular pseudodrusen phenotype in age-related macular degeneration更正:患者诱导多能干细胞识别年龄相关性黄斑变性中网状假性玻璃疣表型的特异性
err2026-07-22
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errJenna C. Hall; Kavitha Krishna Sudhakar; Maciej Daniszewski; Anne Senabouth; Carla J. Abbott; Helena H. Liang; Himeesh Kumar; Grace E. Lidgerwood; Mehdi Mirzaei; Jessica YW Ma; Trevor Atkeson; Yumiko Hirokawa; Emeline F. Nandrot; Alexander Barnett; Chantal Cazevieille; Gaël Manes; Simon Mountford; Philip Thompson; Erica L. Fletcher; Zhichao Wu; Melanie Bahlo; Brendan R. E. Ansell; Daniel Paull; Alex W. Hewitt; Robyn H. Guymer; Joseph E. Powell; Alice Pébay
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Defining a tandem repeat catalog and variation clusters for genome-wide analyses and population databases定义用于全基因组分析和群体数据库的串联重复目录及变异簇
err2026-04-22
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PREAI
errBen Weisburd; Egor Dolzhenko; Mark F. Bennett; Matt C. Danzi; Isaac R.L. Xu; Hope Tanudisastro; Bida Gu; Adam English; Laurel Hiatt; Tom Mokveld; Guilherme De Sena Brandine; Readman Chiu; Nehir Edibe Kurtas; Helyaneh Ziaei Jam; Harrison Brand; Indhu-Shree Rajan-Babu; Melanie Bahlo; Mark J.P. Chaisson; Stephan Züchner; Melissa Gymrek
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Understanding Plasmodium vivax recurrent infections using an amplicon deep sequencing assay, identity-by-descent and model-based classification利用扩增子深度测序分析、亲缘身份识别和基于模型的分类理解间日疟原虫再感染
err2026-04-18
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errJason Rosado; Jiru Han; Thomas Obadia; Jacob Munro; Zeinabou Traore; Kael Schoffer; Jessica Brewster; Caitlin Bourke; Joseph M. Vinetz; Aimee R. Taylor; Michael White; Melanie Bahlo; Dionicia Gamboa; Ivo Mueller; Shazia Ruybal-Pesántez
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HTRA1/lncRNA HTRA1-AS1 dominates in age-related macular degeneration reticular pseudodrusen genetic risk with no complement involvementHTRA1/lncRNA HTRA1-AS1在年龄相关性黄斑变性网状假性玻璃疣遗传风险中占主导地位,且不涉及补体。
err2025-12-08
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errSamaneh Farashi; Carla J. Abbott; Brendan R. E. Ansell; Zhichao Wu; Lebriz Altay; Ella Arnon; Louis Arnould; Yelena Bagdasarova; Konstantinos Balaskas; Fred K. Chen; Emily Chew; Itay Chowers; Steven Clarke; Catherine Cukras; Cécile Delcourt; Marie-Noëlle Delyfer; Anneke I. den Hollander; Sascha Fauser; Robert P. Finger; Pierre-Henry Gabrielle; Jiru Han; Lauren A. B. Hodgson; Ruth Hogg; Frank G. Holz; Carel Hoyng; Himeesh Kumar; Eleonora M. Lad; Aaron Lee; Ulrich F. O. Luhmann; Matthias M. Mauschitz; Amy J. McKnight; Samuel McLenachan; Aniket Mishra; Ismail Moghul; Luz D. Orozco; Danuta M. Sampson; Liam W. Scott; Vasilena Sitnilska; Scott Song; Amy Stockwell; Anand Swaroop; Jan H. Terheyden; Liran Tiosano; Adnan Tufail; Brian L. Yaspan; Alice Pébay; Erica L. Fletcher; Robyn H. Guymer; Melanie Bahlo
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Epilepsy concordance in monozygotic twins: the role of common genetic variants单卵双胞胎中的癫痫一致率:常见遗传变异的作用
errBRAIN
IF11.7
err2025-12-01
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PREAI
errDang, Yew Li; Oliver, Karen L.; Esnault, Kate; Bahlo, Melanie; Perucca, Piero; Berkovic, Samuel F.
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Deep Learning-Based Detection of Reticular Pseudodrusen in Age-Related Macular Degeneration基于深度学习的老年性黄斑变性中网状假性玻璃疣的检测
err2025-09-08
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errOAAI
errHimeesh Kumar; Yelena Bagdasarova; Scott Song; Doron G. Hickey; Amy C. Cohn; Mali Okada; Robert P. Finger; Jan H. Terheyden; Ruth E. Hogg; Pierre-Henry Gabrielle; Louis Arnould; Maxime Jannaud; Xavier Hadoux; Peter van Wijngaarden; Carla J. Abbott; Lauren A. B. Hodgson; Roy Schwartz; Adnan Tufail; Emily Y. Chew; Cecilia S. Lee; Erica L. Fletcher; Melanie Bahlo; Brendan R. E. Ansell; Alice Pébay; Robyn H. Guymer; Aaron Y. Lee; Zhichao Wu
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Base editing of trinucleotide repeats that cause Huntington's disease and Friedreich's ataxia reduces somatic repeat expansions in patient cells and in mice对引起亨廷顿病和弗里德赖希共济失调的三核苷酸重复序列进行碱基编辑,可降低患者细胞和小鼠中的体细胞重复序列扩增。
err2025-05-26
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errMatuszek, Zaneta; Arbab, Mandana; Kesavan, Maheswaran; Hsu, Alvin; Roy, Jennie C. L.; Zhao, Jing; Yu, Tian; Weisburd, Ben; Newby, Gregory A.; Doherty, Neil J.; Wu, Muzhou; Shibata, Shota; Cristian, Ana; Tao, Y. Allen; Fearnley, Liam G.; Bahlo, Melanie; Rehm, Heidi L.; Xie, Jun; Gao, Guangping; Mouro Pinto, Ricardo; Liu, David R.
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Improving genetic diagnostic yield in familial and sporadic cerebral cavernous malformations: detection of copy number and deep Intronic variants提高家族性和散发性脑海绵状血管瘤的遗传诊断率:检测拷贝数变异和深部内含子变异
err2025-05-22
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errSikta, Neblina; Gooley, Samuel; Green, Timothy E.; Hoeper, Olivia; Witkowski, Tom; Bennett, Caitlin; Francis, David; Reid, Joshua; Mao, Kevin; Awad, Mohammed; Roberts-Thomson, Samuel; Bulluss, Kristian; Clark, Jonathan; Scheffer, Ingrid E.; Perucca, Piero; Bennett, Mark F.; Bahlo, Melanie; Berkovic, Samuel F.; Hildebrand, Michael S.
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Psychoses of Epilepsy: Unravelling the Phenotypic and Genotypic Features癫痫的精神病: 阐明表型和基因型特征
err2025-02-14
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errRayner, Genevieve; Honybun, Eliza; Bahlo, Melanie; Oliver, Karen L.; Scheffer, Ingrid E.
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Multi-omic spatial effects on high-resolution AI-derived retinal thickness多组学空间效应对高分辨率AI衍生视网膜厚度的影响
err2025-02-04
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errJackson, V. E.; Wu, Y.; Bonelli, R.; Owen, J. P.; Scott, L. W.; Farashi, S.; Kihara, Y.; Gantner, M. L.; Egan, C.; Williams, K. M.; Ansell, B. R. E.; Tufail, A.; Lee, A. Y.; Bahlo, M.
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Novel, complex configurations of the MARCHF6 repeat expansion associated with progressive myoclonic epilepsy and familial adult myoclonic epilepsy与进行性肌阵挛癫痫和家族性成人肌阵挛癫痫相关的MARCHF6重复扩展的新型、复杂构型
err2025-01-01
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errBennett, Mark F.; Corbett, Mark A.; Kroes, Thessa; Canafoglia, Laura; Oliver, Karen L.; Cameron, Jillian M.; Sikta, Neblina; Munro, Jacob; Fearnley, Liam G.; Ibanez, Kristina; Tucci, Arianna; Sisodiya, Sanjay M.; Hildebrand, Michael S.; Scheffer, Ingrid E.; Courage, Carolina; Lehesjoki, Anna-Elina; Giuliano, Loretta; Didato, Giuseppe; Franceschetti, Silvana; Gecz, Jozef; Berkovic, Samuel F.; Bahlo, Melanie
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Drug repurposing candidates for amyotrophic lateral sclerosis using common and rare genetic variants利用常见和稀有遗传变异筛选肌萎缩侧索硬化症药物重定位候选药物
err2025-01-01
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PREAI
errGerring, Zachary F.; Bhalala, Oneil G.; Fearnley, Liam G.; Oikari, Lotta E.; White, Anthony R.; Derks, Eske M.; Watson, Rosie; Yassi, Nawaf; Bahlo, Melanie; Reay, William R.
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Peripheral immune cell abundance differences link blood mitochondrial DNA copy number and Parkinson's disease外周免疫细胞丰度差异将血液线粒体DNA拷贝数与帕金森氏病联系起来
err2024-11-14
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errWang, Longfei; Han, Jiru; Fearnley, Liam G.; Milton, Michael; Rafehi, Haloom; Reid, Joshua; Gerring, Zachary F.; Masaldan, Shashank; Lang, Tali; Speed, Terence P.; Bahlo, Melanie
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Inherited PURA Pathogenic Variant Associated With a Mild Neurodevelopmental Disorder与轻度神经发育障碍相关的遗传性PURA致病变体
err2024-10-01
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errOAAI
errHildebrand, Michael S.; Braden, Ruth O.; Lauretta, Mariana L.; Kaspi, Antony; Leventer, Richard J.; Anderson, Melinda; Goel, Himanshu; Bahlo, Melanie; Scheffer, Ingrid E.; Amor, David J.; Janowski, Robert; Niessing, Dierk; Morgan, Angela T.
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