Author

Marzena Walkiewicz

Royal Children's Hospital

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Bioinformatics· 1 Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Assay:bulk RNA-seq· 2 Research Focus:differential expression· 2 Organism:human· 2 Approach:statistical model· 2 Research Focus:benchmarking· 1 Approach:experimental assay· 1 Assay:spatial transcriptomics· 1

Frequent Co-Authors

Cas SimonsiD· 2 shared Guy HelmaniD· 2 shared Adeline L. VanderveriD· 1 shared Albee MessingiD· 1 shared Alexander MaytumiD· 1 shared Ali S. FatemiiD· 1 shared Alison G. ComptoniD· 1 shared Amy Tara WaldmaniD· 1 shared

Activity by Year

2020-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 20 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Cas SimonsORCID

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

Application of spatial transcriptomics across organoids: a high-resolution spatial whole-transcriptome benchmarking dataset

Maria Rosaria Nucera, Natalie Charitakis, Ryan F. Leung, Anna L. Leichter, Natasha Tuano, Marzena Walkiewicz, Vallari Sawant, Lynn Rowley, Michelle Scurr, Pei Xuan Er, Ker S. Tan, Rebecca Sutton, Feroz Ahmad, Ritika Saxena, Alexander Maytum, , Mirana Ramialison

This paper benchmarks spatial transcriptomics in stem cell-derived organoids using Stereo-seq, optimizing RNA capture and introducing regional analysis methods.

iScience · Apr 21, 2026Peer-reviewedBioinformatics

RNA sequencing identifies a cryptic exon caused by a deep intronic variant in NDUFB10 resulting in isolated Complex I deficiency.

Guy Helman, Alison G. Compton, Daniella Helena Hock, Marzena Walkiewicz, Gemma R. Brett, Lynn S. Pais, Tiong Yang Tan, Ricardo De Paoli‐Iseppi, Michael B. Clark, John Christodoulou, Susan M. White, David Ross Thorburn, David A. Stroud, Zornitza Stark, Cas Simons

The paper identifies a deep intronic variant in NDUFB10 causing a cryptic exon and isolated Complex I deficiency through RNA sequencing in two affected siblings.

Human Mutation · Nov 10, 2020Peer-reviewedGenetic & Genomic Medicine

Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform.

Guy Helman, Asako Takanohashi, Tracy L. Hagemann, Ming Der Perng, Marzena Walkiewicz, Sarah Woidill, Sunetra Sase, Zachary Cross, Yangzhu Du, Ling Zhao, Amy Tara Waldman, Bret C. Haake, Ali S. Fatemi, Michael Brenner, Omar Sherbini, , Cas Simons

Human Mutation · Mar 3, 2020Peer-reviewedGenetics