Publications by authors named "Elizabeth Carbonell"

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Male proband with intractable seizures and a de novo start-codon-disrupting variant in GLUL.
Elizabeth Carbonell, Sarah L Stenton, Vijay S Ganesh, Jialan Ma, Grace E VanNoy

HGG Adv· April 2025

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Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection.
Shloka Negi, Sarah L Stenton, Seth I Berger, Paolo Canigiula, Brandy McNulty, Elizabeth Carbonell

Am J Hum Genet· February 2025

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Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection.
Shloka Negi, Sarah L Stenton, Seth I Berger, Brandy McNulty, Ivo Violich, Elizabeth Carbonell

medRxiv· August 2024

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Aberrant newborn T cell and microbiota developmental trajectories predict respiratory compromise during infancy.
Andrew McDavid, Nathan Laniewski, Alex Grier, Ann L Gill, Haeja A Kessler, Elizabeth Carbonell

iScience· April 2022

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