Author

Hanna Mandel

Rambam Health Care CampusORCID 0000-0002-5230-4247Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Organism:human· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Research Focus:cell-cell communication· 1 Research Focus:database / resource· 1 Assay:electronic health records· 1 Approach:experimental assay· 1

Frequent Co-Authors

Agnès RötigiD· 1 shared Akira OhtakeiD· 1 shared Albert Zishen LimiD· 1 shared Angela PyleiD· 1 shared Anna ArdissoneiD· 1 shared Antònia RibesiD· 1 shared Aviram ShemeniD· 1 shared Bader AlhaddadiD· 1 shared

Activity by Year

2021-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Agnès RötigORCID

Mutual co-authors in cluster

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2 papers

Recent·Most cited

Dysregulation of Multiple Solute Carrier genes and Metabolic Deficits in SLC1A4-Mutant Human iPSC-Derived Hippocampal Neurons

Ritu Nayak, Omveer Sharma, Liron Mizrahi, Aviram Shemen, Utkarsh Tripathi, Yara Hussein, Wote Amelo Rike, Idan Rosh, Inna S. Radzishevsky, Hanna Mandel, Julia Ladewig, Tzipora C. Falik Zaccai, Herman Wolosker, Shani Stern

This study investigates SLC1A4 mutations in human iPSC-derived neurons, revealing metabolic and synaptic deficits linked to amino acid transport dysfunction and neurodevelopmental disorders.

bioRxiv · Apr 25, 2025 · PreprintNeuroscience

Diagnosing pediatric mitochondrial disease: lessons from 2,000 exomes

Sarah L. Stenton, Masaru Shimura, Dorota Piekutowska‐Abramczuk, Peter Freisinger, Felix Distelmaier, Johannes Adalbert Mayr, Christine C. Makowski, Boriana Büchner, Bader Alhaddad, Charlotte L. Alston, Anna Ardissone, Rui Ban, Ivo Barić, Riccardo Berutti, Theresa Brunet, , Holger Prokisch

This study analyzes 2,023 pediatric exomes to diagnose mitochondrial disease, identifying 1,109 molecular diagnoses and 62 novel disease genes through exome sequencing and functional studies.

medRxiv · Jun 21, 2021 · PreprintGenetic & Genomic Medicine