Author

María J. Guillen Sacoto

Ochsner Health SystemORCID 0000-0003-3772-8815Unclaimed 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 Research Focus:differential expression· 1 Organism:Drosophila· 1 Research Focus:gene regulatory network inference· 1 Approach:statistical model· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Alexandra DürriD· 1 shared Alina KurolapiD· 1 shared Amy Siemon· 1 shared Ashita Dave‐Wala· 1 shared Birsen KaramaniD· 1 shared Bonnie R. SullivaniD· 1 shared Carol SaundersiD· 1 shared Carolyn LeiD· 1 shared

Activity by Year

2021-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 20 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alexandra DürrORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintOct 11, 2024

Basic helix-loop-helix transcription factor BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalities

Carolyn Le, Emanuela Argilli, Elizabeth George…·Elliott H. Sherr

2 citations

𝕏 PostBluesky

Genetic & Genomic MedicineScience AdvancesPeer-reviewedMay 12, 2021

Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features

Dong Li, Qin Wang, Naihua Natalie Gong…·Hakon H. Hakonarson

The paper identifies pathogenic variants in SMARCA5 as a cause of a neurodevelopmental syndrome with mild facial dysmorphia and developmental delay.

30 citations

humanDrosophila

𝕏 PostBluesky