Author

Sonum Bharill

Johns Hopkins UniversityORCID 0000-0003-2933-5579Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Ali S. FatemiiD· 1 shared Allan Meldgaard LundiD· 1 shared Cecilie S. VidebækiD· 1 shared Danielle H.J. KimiD· 1 shared Elisa Seeger· 1 shared Eric James MallackiD· 1 shared Ezzat HashemiiD· 1 shared Florian EichleriD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Ali S. FatemiORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJul 2, 2026

Disease Outcomes in Boys with ABCD1 Variants Identified by Newborn Screening for X-ALD

Cecilie S. Videbæk, Danielle H.J. Kim, Hannah S. Hart…·Keith P. van Haren

The paper evaluates disease outcomes in boys with ABCD1 variants detected via newborn screening for ALD, finding that VUS variants are associated with lower rates of adrenal insufficiency and lower C26:0-LPC levels compared to pathogenic variants.

DOI 10.64898/2026.06.30.26356979

humanstatistical model

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