Author

Mark Hannibal

University of MichiganORCID 0000-0002-9077-3837Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Developmental Biology· 1 Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Research Focus:differential expression· 2 Approach:experimental assay· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 1 Assay:electronic health records· 1 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

Isabelle ThiffaultiD· 2 shared J Gordon MillichapiD· 2 shared Adam S. HelmsiD· 1 shared Ahna M. Rabani· 1 shared Alessandra RenieriiD· 1 shared Alfred L. GeorgeiD· 1 shared Ali TorkamaniiD· 1 shared Allison Schreiber· 1 shared

Activity by Year

2019-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Isabelle ThiffaultORCID

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3 papers

Recent·Most cited

Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals

Elisabeth Bosch, Bernt Popp, Esther Güse, Cindy D. Skinner, Pleuntje J. van der Sluijs, Isabelle Maystadt, Anna Maria Pinto, Alessandra Renieri, Lucia Pia Bruno, Stefania Granata, Carlo Marcelis, Özlem Baysal, Dewi Hartwich, Laura Holthöfer, Bertrand Isidor, , Georgia Vasileiou

The paper presents clinical and molecular data on 65 individuals with SMARCC2-associated neurodevelopmental disorders, distinguishing phenotypes based on variant types and identifying potential pathomechanisms.

medRxiv · Mar 30, 2023 · PreprintGenetic & Genomic Medicine

Aberrant extracellular matrix and cardiac development in models lacking the PR-DUB component ASXL3

BT McGrath, Yao-Chang Tsan, Shachi Salvi, Neeti Ghali, Donna M. Martin, Mark Hannibal, CE Keegan, Adam S. Helms, Anshika Srivastava, Stephanie L. Bielas

This study investigates the role of ASXL3 in cardiac development using mouse and human models, finding that its loss leads to cardiac abnormalities and extracellular matrix dysfunction.

bioRxiv · Jul 14, 2022 · PreprintDevelopmental Biology

High throughput Characterization of KCNB1 variants Associated with Developmental and Epileptic Encephalopathy

Seok Kyu Kang, Carlos G. Vanoye, Sunita N. Misra, Dennis M. Echevarria-Cooper, Jeffrey Dennis Calhoun, John B. O'Connor, Katarina L. Fabre, Dianalee McKnight, Laurie Demmer, Paula C. Goldenberg, Lauren E. Grote, Isabelle Thiffault, Carol Saunders, Kevin A. Strauss, Ali Torkamani, , Jennifer A. Kearney

This study evaluates 17 KCNB1 variants associated with DEE and NDD using high-throughput assays to identify functional defects in Kv2.1 channels.

Annals of Neurology · Oct 10, 2019Peer-reviewedGenetics