Author

Chaofan Zhang

Baylor College of MedicineORCID 0000-0003-0504-5999Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 2 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:differential expression· 2 Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 1 Approach:experimental assay· 1 Assay:proteomics· 1 Research Focus:variant calling· 1

Frequent Co-Authors

James R. LupskiiD· 3 shared Chad A. ShawiD· 2 shared Claudia M.B. CarvalhoiD· 2 shared Aleš MaveriD· 1 shared Alexandre ReymondiD· 1 shared Alfredo BruscoiD· 1 shared Amanda Stillwell· 1 shared Annabelle TuttleiD· 1 shared

Activity by Year

2019-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 28 mutual co-author links

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3 shared papersGenetics

James R. LupskiORCID

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3 papers

Recent·Most cited

GeneticsbioRxivPreprintAug 2, 2025

Pathogenic DVL frameshifting variants in Robinow syndrome disrupt WNT signaling and cellular dynamics

Chaofan Zhang, Rituparna Sinha Roy, Ming Yin Lun…·Claudia M.B. Carvalho

The paper investigates how pathogenic DVL frameshifting variants in Robinow syndrome disrupt WNT signaling and cellular dynamics by altering protein structure and function.

DOI 10.1101/2025.08.02.668297

humanproteomics

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Genetic & Genomic MedicinemedRxivPreprintJan 14, 2024

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles

Sissy Bassani, Jacqueline Chrast, Giovanna Ambrosini…·Alexandre Reymond

The paper identifies variant-specific effects of AFF3 on transcriptome profiles through analysis of patient cohorts and zebrafish models, showing distinct pathophysiological mechanisms for different types of AFF3 variants.

1 citation

humanzebrafish

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GeneticsbioRxivPreprintNov 11, 2019

Integrated Sequencing & Array Comparative Genomic Hybridization in Familial Parkinson’s Disease

Laurie A. Robak, Renqian Du, Bo Yuan…·Joshua M Shulman

The paper combines exome sequencing and array-based comparative genomic hybridization to identify genetic risk factors in familial Parkinson’s disease, finding novel SNVs and CNVs.

1 citation

humanwhole-exome sequencing

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Biology Disciplines

Signature Assays, Organisms & Methods

Frequent Co-Authors

Activity by Year

Co-Author Collaboration Network

Pathogenic DVL frameshifting variants in Robinow syndrome disrupt WNT signaling and cellular dynamics

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles

Integrated Sequencing &amp; Array Comparative Genomic Hybridization in Familial Parkinson’s Disease

Integrated Sequencing & Array Comparative Genomic Hybridization in Familial Parkinson’s Disease