Publications by authors named "Lane Fitzsimmons"

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A New Variant in the NALCN Channel Is Responsible for Cerebellar Ataxia and Cognitive Impairment.
Rute Luísa Cabrita Pinto, Roberto Fancellu, Tiziana Benzi Markushi, Silvia Viaggi, Barbara Testa, Lane Fitzsimmons

Genes (Basel)· October 2025

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Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients.
Lane Fitzsimmons, , Brett Beaulieu-Jones, Shilpa Nadimpalli Kobren

BioData Min· January 2025

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Impact of NSD1 Alternative Transcripts in Actin Filament Formation and Cellular Division Pathways in Fibroblasts.
Giuseppina Conteduca, Davide Cangelosi, Chiara Baldo, Alessia Arado, Barbara Testa, Lane Fitzsimmons

Genes (Basel)· August 2024

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Phenotypic overlap between rare disease patients and variant carriers in a large population cohort informs biological mechanisms.
Lane Fitzsimmons, , Brett Beaulieu-Jones, Shilpa Nadimpalli Kobren

medRxiv· April 2024

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Disease progression strikingly differs in research and real-world Parkinson's populations.
Brett K Beaulieu-Jones, Francesca Frau, Sylvie Bozzi, Karen J Chandross, M Judith Peterschmitt, Lane Fitzsimmons

NPJ Parkinsons Dis· March 2024

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Disease progression strikingly differs in research and real-world Parkinson's populations.
Brett K Beaulieu-Jones, Francesca Frau, Sylvie Bozzi, Karen J Chandross, M Judith Peterschmitt, Lane Fitzsimmons

medRxiv· February 2024

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Diversity in Machine Learning: A Systematic Review of Text-Based Diagnostic Applications.
Lane Fitzsimmons, Maya Dewan, Judith W Dexheimer

Appl Clin Inform· May 2022

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