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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, Giuseppina Conteduca, Lane Fitzsimmons, Domenico Coviello, Angela Elvira Covone

Genes · Oct 11, 2025

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Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients

Lane Fitzsimmons, Undiagnosed Diseases Network, Brett Beaulieu-Jones, Shilpa Nadimpalli Kobren

BioData Mining · Jan 17, 2025

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Characterizing the connection between Parkinson’s disease progression and healthcare utilization

Lane Fitzsimmons, Francesca Frau, Sylvie Bozzi, Karen J. Chandross, Brett K. Beaulieu-Jones

medRxiv [Preprint] · Sep 16, 2024

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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, Ryan T. Wagner, Keith D. Robertson, Franck Dequiedt, Lane Fitzsimmons, Michela Malacarne, Gilberto Filaci, Domenico A. Coviello

Genes · Aug 24, 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, Caroline Cohen, Catherine Coulovrat, Dinesh Kumar, Mark J. Kruger, Scott L. Lipnick, Lane Fitzsimmons, Isaac S. Kohane, Clemens R. Scherzer

Nature Parkinson's Disease · Mar 13, 2024

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Diversity in machine learning: a systematic review of text-based diagnostic applications

Lane Fitzsimmons, Maya Dewan, Judith W. Dexheimer

Applied Clinical Informatics · May 25, 2022

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