Author

Leah Ragno

Children's Hospital of PhiladelphiaORCID 0000-0002-7917-8156Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1

Frequent Co-Authors

Louise C. PyleiD· 2 shared Daphne YangiD· 1 shared Diane K. Bowen· 1 shared Hakon H. HakonarsoniD· 1 shared Jonathan P. Bradfield· 1 shared Joseph GlessneriD· 1 shared Katheryn GrandiD· 1 shared Maria George VogiatziiD· 1 shared

Activity by Year

2024-2024 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Louise C. PyleORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintMay 27, 2024

Intersex/Differences of Sex Development (I/DSD) Traits: Exploring Their Association with 15% of Phenotypically Detailed Genetic Disorders

Leah Ragno, Louise C. Pyle

The paper identifies 15.5% of phenotypically detailed genetic disorders in OMIM associated with I/DSD-related HPO terms, highlighting their broader systemic impact and the need for a continuum-based understanding of I/DSD.

DOI 10.1101/2024.05.27.24307983

humanstatistical model

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintMay 27, 2024

Increased Expression of ZFPM2 Bypasses SRY to Drive 46,XX Testicular Development: A New Mechanism of 46,XX DSD

Leah Ragno, Daphne Yang, Trisha Bhatti…·Louise C. Pyle

This paper identifies increased ZFPM2 dosage as a mechanism for 46,XX testicular development independent of SRY in a mosaic individual.

DOI 10.1101/2024.05.27.24307993

humanbulk RNA-seq

𝕏 PostBluesky