Author

Jorge Luis Granadillo

Washington University in St. LouisORCID 0000-0003-4243-204XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 3 Animal Behavior & Cognition· 1 Biochemistry· 1

Signature Assays, Organisms & Methods

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Research Focus:cell type annotation· 3 Approach:experimental assay· 3 Organism:human· 3 Research Focus:gene regulatory network inference· 2 Organism:mouse· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Research Focus:cell-cell communication· 1

Frequent Co-Authors

Joseph D. DoughertyiD· 2 shared Kristen L. KrolliD· 2 shared Abiola Harrison· 1 shared Adelia Vicanatalita Susanto· 1 shared Aditi GuptaiD· 1 shared Allyson Schreiber· 1 shared Amaury Cazenave‐GassiotiD· 1 shared Anabelle Tuttle· 1 shared

Activity by Year

2022-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 10 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

Joseph D. DoughertyORCID

Mutual co-authors in cluster

Author profile →

5 papers

Recent·Most cited

Genetic & Genomic MedicineAmerican Journal of Medical Genetics Part APeer-reviewedOct 19, 2026

Neurobehavioral Profiles and Clinical Consequences of MYT1L-Related Neurodevelopmental Disorder: Insights from the Brain Gene Registry.

Jorge Luis Granadillo, Levi Kaster, Virginia Lanzotti…·Joseph D. Dougherty

This study characterizes MYT1L-Related Neurodevelopmental Disorder using data from the Brain Gene Registry, identifying cognitive, behavioral, and clinical features in affected individuals.

2 citationstop 5%

humanelectronic health records

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Animal Behavior & CognitionHormones and BehaviorPeer-reviewedJul 28, 2025

A survey of hypothalamic phenotypes identifies molecular and behavioral consequences of MYT1L haploinsufficiency in male and female mice.

Susan E. Maloney, Katherine B. McCullough, Sneha M. Chaturvedi…·Joseph D. Dougherty

This study examines the molecular and behavioral effects of MYT1L haploinsufficiency in mice, finding region-specific hypothalamic disruptions and sex-specific behavioral stability.

4 citations

mousebulk RNA-seq

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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

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BiochemistryCell ResearchPeer-reviewedFeb 1, 2024

MFSD7c functions as a transporter of choline at the blood-brain barrier

Xuan T. A. Nguyen, Thanh Nha Uyen Le, Quoc Toan Nguyen…·Long Nam Nguyen

This study identifies MFSD7c as a choline transporter at the blood-brain barrier and links its dysfunction to Fowler syndrome.

30 citationstop 3%

mousemetabolomics

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Genetic & Genomic MedicinemedRxivPreprintFeb 15, 2022

Detailed Clinical and Functional Studies of New MTOR Variants in Smith-Kingsmore Syndrome Reveal Deficits of Circadian and Sleep Homeostasis

Andrew C. Liu, Yang Shen, Destino Roman…·Carlos Enrique Prada

This study identifies new MTOR variants in Smith-Kingsmore Syndrome, reveals circadian and sleep deficits, and shows rapamycin treatment can improve symptoms.

3 citations

humanexperimental assay

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