Author

Ankit Pathak

Institute of Genetics and CancerORCID 0000-0001-6756-4351Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Assay:CRISPR screen· 1 Approach:deep learning· 1 Approach:experimental assay· 1 Research Focus:variant effect prediction· 1 Organism:zebrafish· 1

Frequent Co-Authors

Grzegorz R. KudlaiD· 2 shared Joseph A. MarshiD· 2 shared Andrew P. BadrockiD· 1 shared Cameron WyattiD· 1 shared Christos Prapiadis· 1 shared Hasan ÇubukiD· 1 shared Jian You LauiD· 1 shared Katryna Bell· 1 shared

Activity by Year

2025-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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2 shared papersGenetics

Grzegorz R. KudlaORCID

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2 papers

Recent·Most cited

GeneticsbioRxivPreprintSep 27, 2026

Mechanism-selective deep mutational scanning distinguishes ERCC2 disease phenotypes

Hasan Çubuk, Vahid Aslanzadeh, Yifei Shang…·Joseph A. Marsh

The paper uses deep mutational scanning to distinguish disease mechanisms in ERCC2 variants, finding that TTD variants have lower fitness than XP variants.

DOI 10.64898/2026.09.24.754105

humanCRISPR screen

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NeurosciencebioRxivPreprintOct 10, 2025

Human Mendelian disease and in vivo mutagenesis screening define the molecular architecture of the U8 snoRNA

Andrew P. Badrock, Katryna Bell, Jian You Lau…·Yanick Joseph Crow

The paper identifies molecular domains in the U8 snoRNA affected by LCC mutations and shows how U8 function impacts stability through a post-transcriptional mechanism.

DOI 10.1101/2025.10.10.681432

zebrafishhuman

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