Author

Daniah T. Beleford

University of California, San FranciscoORCID 0000-0003-1766-1094Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 2 Approach:experimental assay· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1 Organism:yeast· 1 Organism:zebrafish· 1

Frequent Co-Authors

Anne Michele SlavotinekiD· 3 shared Aditi Shah ParikhiD· 1 shared Amanda Openshaw· 1 shared Ambro van HoofiD· 1 shared Andrea AccogliiD· 1 shared Andrew G. SharoiD· 1 shared Ange‐Line BrueliD· 1 shared Angela PeroniD· 1 shared

Activity by Year

2020-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 25 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Anne Michele SlavotinekORCID

Mutual co-authors in cluster

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3 papers

Recent·Most cited

Genetic & Genomic MedicineEuropean Journal of Human GeneticsPeer-reviewedOct 24, 2024

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

Angela Peron, Felice D’Arco, Kimberly A. Aldinger…·Cristina Dias

This study defines the clinical spectrum and genotype-phenotype correlations of BCL11A-IDD by analyzing 75 patients with molecular and clinical data.

23 citationstop 3%

humanstatistical model

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Genetic & Genomic Medicinenpj Genomic MedicinePeer-reviewedSep 23, 2021

Application of Full Genome Analysis to Diagnose Rare Monogenic Disorders

Joseph T.C. Shieh, Monica Penon‐Portmann, Karen H. Y. Wong…·Dario Boffelli

This study evaluates the Full Genome Analysis method for diagnosing rare monogenic disorders, finding a 40% diagnostic yield in clinical cases.

56 citationstop 2%

humanwhole-genome sequencing

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GeneticsHuman Molecular GeneticsPeer-reviewedJun 1, 2020

Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness

Anne Michele Slavotinek, Doriana Misceo, Stephanie Htun…·Anita H. Corbett

The paper reports three patients with biallelic EXOSC5 variants causing developmental delays, short stature, and cerebellar hypoplasia, and shows functional defects in RNA exosome activity.

37 citations

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