Author

Patricia G. Wheeler

Arnold Palmer Hospital for ChildrenORCID 0000-0002-0156-2449Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 2 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Organism:human· 2 Approach:statistical model· 2 Assay:whole-exome sequencing· 2 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:mouse· 1

Frequent Co-Authors

Boris KereniD· 2 shared Abiola Harrison· 1 shared Aisha Mohamed Saeed Mohamed Al Shamsi· 1 shared Alejandro D. IglesiasiD· 1 shared Alexandria T.M. BlackburniD· 1 shared Anabelle Tuttle· 1 shared Andrew A. HardiganiD· 1 shared Angela E. ScheuerleiD· 1 shared

Activity by Year

2018-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 16 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Boris KerenORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintFeb 10, 2025

Variants in BSN, encoding the presynaptic protein Bassoon, result in a novel neurodevelopmental disorder with a broad phenotypic range

Stacy G. Guzman, Sarah McKeown Ruggiero, Shiva Ganesan…·Ingo Helbig

The paper identifies BSN variants as a cause of a new neurodevelopmental disorder with a broad phenotypic range, using clinical data and computational phenotyping.

DOI 10.1101/2025.02.10.25321755

humanstatistical model

GeneticsGenetics in MedicinePeer-reviewedJul 1, 2019

DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract

Alexandria T.M. Blackburn, Nasim Bekheirnia, Vanessa C. Uma…·Mir Reza Bekheirnia

The paper investigates congenital kidney and urinary tract anomalies and genital defects in DYRK1A mutation carriers, showing DYRK1A's role in genitourinary development through Xenopus studies.

34 citationstop 4%

mousewhole-exome sequencing

GeneticsPLoS GeneticsPeer-reviewedNov 30, 2018

De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay

Susan M. Hiatt, Matthew B. Neu, Ryne C. Ramaker…·Gregory M. Cooper

The paper identifies de novo mutations in RALA, a RAS-like GTPase, as a cause of intellectual disability and developmental delay, showing their functional impact on GTP binding and effector interactions.

35 citations

humanwhole-exome sequencing