Author

Alyssa L. Rippert

Children's Hospital of PhiladelphiaORCID 0000-0003-4735-5223Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1 Molecular Biology· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 3 Organism:human· 3 Approach:statistical model· 3 Research Focus:differential expression· 2 Assay:DNA methylation· 1 Research Focus:gene regulatory network inference· 1 Organism:mouse· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Daniel C. KoboldtiD· 2 shared Kosuke IzumiiD· 2 shared Rami Abou JamraiD· 2 shared Rebecca C. Ahrens‐NicklasiD· 2 shared A. Arockia Jeyaprakash· 1 shared Aakanksha AnandiD· 1 shared Adele Harman· 1 shared Aiko Iwata‐OtsuboiD· 1 shared

Activity by Year

2020-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 22 mutual co-author links

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Focal author (center)Selected co-authorORCID co-authorUnlinked name

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2 shared papersGenetic & Genomic Medicine

Daniel C. KoboldtORCID

Mutual co-authors in cluster

Author profile →

4 papers

Recent·Most cited

Molecular BiologyNature Cardiovascular ResearchPeer-reviewedJan 6, 2026

Pathogenetic mechanisms of muscle-specific ribosomes in dilated cardiomyopathy

Michael Robert Murphy, Mythily Ganapathi, Esther R. Rotlevi…·Xuebing Wu

The paper identifies a pathogenetic mechanism for RPL3L-linked dilated cardiomyopathy, showing that gain-of-toxicity variants in muscle-specific ribosomes cause severe neonatal heart failure.

4 citations

humanmouse

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Genetic & Genomic MedicinemedRxivPreprintDec 27, 2025

De novo MAP2K4 variants cause a novel neurodevelopmental syndrome with impaired JNK signaling in iPSC-derived neurons

Tomoki T. Nomakuchi, Alyssa L. Rippert, Sabrina A. Santos De Leon…·Elizabeth J. K. Bhoj

DOI 10.64898/2025.12.23.25342932

humanexperimental assay

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Genetic & Genomic MedicineNature CommunicationsPeer-reviewedFeb 17, 2025

RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS

Avinash V. Dharmadhikari, Maria Alba Abad, Reza Maroofian…·Universitat Autònoma de Barcelona. Departament de Medicina

The paper identifies SPOUT1/CENP-32 as a causative gene for SpADMiSS, linking its dysfunction to mitotic spindle defects and neurodevelopmental disorders.

DOI 10.1038/s41467-025-56876-w

zebrafishwhole-exome sequencing

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GeneticsbioRxivPreprintSep 29, 2020

Dominant-negative mutations in CBX1 cause a neurodevelopmental disorder

Yukiko Kuroda, Aiko Iwata‐Otsubo, Kerith‐Rae Dias…·Kosuke Izumi

This study identifies de novo CBX1 variants in three individuals with neurodevelopmental features and shows they cause dominant-negative effects by disrupting HP1β chromatin binding.

DOI 10.1101/2020.09.29.319228

humanstatistical model

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