Author

Bonnie Lerman

Icahn School of Medicine at Mount SinaiORCID 0000-0002-9032-1224Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1

Frequent Co-Authors

Alexander KolevzoniD· 1 shared Danielle B. HalperniD· 1 shared Hailey SilveriD· 1 shared Jessica ZweifachiD· 1 shared Joseph D. BuxbaumiD· 1 shared Paige M. SiperiD· 1 shared Tess LevyiD· 1 shared Thariana PichardoiD· 1 shared

Activity by Year

2023-2023 · peak 1/yr

Co-Author Collaboration Network

8 top collaborators · 28 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alexander KolevzonORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintApr 17, 2023

Prospective phenotyping of CHAMP1 disorder indicates that coding mutations do not act through haploinsufficiency

Tess Levy, Thariana Pichardo, Hailey Silver…·Joseph D. Buxbaum

The paper compares clinical phenotypes of CHAMP1 mutations and deletions, finding mutations cause more severe symptoms through dominant negative or gain of function mechanisms, while deletions act via haploinsufficiency.

DOI 10.1101/2023.04.17.23288527

humanexperimental assay

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