Author

Hélio Rubens Machado

Universidade de São PauloORCID 0000-0002-1069-7804Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Assay:spatial transcriptomics· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Chelsea BarrowsiD· 2 shared David D. GondaiD· 2 shared H. Westley PhillipsiD· 2 shared Joseph G. GleesoniD· 2 shared Keng Ioi VongiD· 2 shared Yukitoshi TakahashiiD· 2 shared Ahmed I. MarwaniD· 1 shared Aida M. S. SalemiD· 1 shared

Activity by Year

2023-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 42 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Chelsea BarrowsORCID

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Author profile →

2 papers

Recent·Most cited

The contribution of de novo coding mutations to meningomyelocele

Yoo-Jin Jiny Ha, Ashna Nisal, Isaac Tang, Chanjae Lee, Ishani Jhamb, Cassidy Wallace, Robyn E. Howarth, Sarah Schroeder, Keng Ioi Vong, Naomi Meave Ojeda, Fiza Jiwani, Chelsea Barrows, Sangmoon Lee, Nan Jiang, Arzoo M. Patel, , Joseph G. Gleeson

The paper identifies de novo mutations contributing to meningomyelocele risk by analyzing trios and finding damaging mutations in 22.3% of cases.

Nature · Mar 26, 2025Peer-reviewedGenetic & Genomic Medicine

Comprehensive multiomic profiling of somatic mutations in malformations of cortical development

Changuk Chung, Xiaoxu Yang, Taejeong Bae, Keng Ioi Vong, Swapnil Mittal, Catharina Donkels, H. Westley Phillips, Zhen Li, Ashley P.L. Marsh, Martin W. Breuss, Laurel Ball, Camila Araújo Bernardino Garcia, Renee D. George, Jing Gu, Mingchu Xu, , Eduardo Maury

This study identifies 69 mutated genes in malformations of cortical development using multiomic profiling of 317 brain resections and single-cell sequencing.

Nature Genetics · Jan 12, 2023Peer-reviewedGenetics