Author

Fernando Scaglia

Baylor College of MedicineORCID 0000-0003-3502-8460Unclaimed 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 Approach:experimental assay· 2 Organism:human· 2 Organism:mouse· 1 Assay:proteomics· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Jill Anne RosenfeldiD· 3 shared Christine M. EngiD· 2 shared Pengfei LiuiD· 2 shared Yaping YangiD· 2 shared Adam W. HanseniD· 1 shared Adekunle M. AdesinaiD· 1 shared Aisha Mohamed Saeed Mohamed Al Shamsi· 1 shared Alexandria T.M. BlackburniD· 1 shared

Activity by Year

2018-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 31 mutual co-author links

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3 shared papersGenetics

Jill Anne RosenfeldORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJun 15, 2026

The clinical utility of functional testing in fibroblasts to diagnose primary mitochondrial disease

Johan L.K. Van Hove, Marisa W. Friederich, Roxanne A. Van Hove…·Jennifer H. Yang

Four mitochondrial functional tests in fibroblasts show good sensitivity and excellent specificity for diagnosing primary mitochondrial disease.

1 citation

humanproteomics

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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

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GeneticsAnnals of Clinical and Translational NeurologyPeer-reviewedSep 15, 2018

Phenotypic expansion in DDX3X -- a common cause of intellectual disability in females

Xia Wang, Jennifer Ellen Posey, Jill Anne Rosenfeld…·Paolo M. Moretti

The paper identifies additional DDX3X variants in individuals with intellectual disability and expands the known phenotypic spectrum of DDX3X disorders.

84 citationstop 3%

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