Yaron Einhorn

Most-cited papers

1. The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources

   Marina T. DiStefano, Scott Goehringer, L. Babb, F. Alkuraya +42 more

   2022medRxiv149 citations Open access

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2. Variant-level matching for diagnosis and discovery: Challenges and opportunities

   Eliete da S Rodrigues, Sean Griffith, Renan Martin, C. Antonescu +13 more

   2022Human Mutation41 citations Open access

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3. Loss of protocadherin-12 leads to Diencephalic-Mesencephalic Junction Dysplasia syndrome

   Alicia Guemez-Gamboa, A. Çağlayan, Valentina Stanley, A. Gregor +31 more

   2018Annals of Neurology25 citations Open access

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4. Rare diseases' genetic newborn screening as the gateway to future genomic medicine: the Screen4Care EU-IMI project

   A. Ferlini, E. Gross, Nicolas Garnier, Joanne Berghout +58 more

   2023Orphanet Journal of Rare Diseases21 citations Open access

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5. Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe

   Nicolas Garnier, Joanne Berghout, Aldona Zygmunt, Deependra Singh +57 more

   2023PLoS ONE14 citations Open access

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6. Gene-specific artificial intelligence-based variant classification engine: results of a time-capsule experiment

   Yaron Einhorn, M. Einhorn, Adaia Kamshov, Oron Lev +3 more

   20199 citations Open access

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7. Applying data science methodologies with artificial intelligence variant reinterpretation to map and estimate genetic disorder prevalence utilizing clinical data

   Suellen Jackson, Rebecca Freeman, Adriana Noronha, Hafsah Jamil +16 more

   2024American Journal of Medical Genetics. Part A8 citations Open access

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8. TREAT: systematic and inclusive selection process of genes for genomic newborn screening as part of the Screen4Care project

   Christina Saier, S. Sansen, Joanne Berghout, K. Freyler +15 more

   2025Orphanet Journal of Rare Diseases7 citations Open access

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9. Differential analysis of mutations in the Jewish population and their implications for diseases

   Yaron Einhorn, D. Weissglas-Volkov, S. Carmi, H. Ostrer +2 more

   2017Genetics Research7 citations Open access

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10. Community data-driven approach to identify pathogenic founder variants for pan-ethnic carrier screening panels

    Yaron Einhorn, M. Einhorn, Alina Kurolap, Dror Steinberg +9 more

    2023Human Genomics4 citations Open access

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11. P451: The Gene Curation Coalition works to resolve discrepancies in gene-disease validity assertions

    Marina T. DiStefano, J. Amberger, C. Austin-Tse, M. Balzotti +34 more

    2023Genetics in Medicine Open1 citations Open access

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12. P212: Applying data science methodologies with artificial intelligence variant reinterpretation to map and estimate genetic disorder prevalence utilizing clinical data

    Jeremy Woods, Suellen Jackson, Rebecca Freeman, Adriana Noronha +16 more

    2025Genetics in Medicine Open0 citations Open access

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13. 13. Implementation of new ClinGen/CGC/VICC recommendations for classification of oncogenicity of somatic variants using AI

    Yaron Einhorn, M. Einhorn, Yaron Assa, O. Shani

    2022Cancer Genetics0 citations

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14. eP345: Community data-driven approach for generating cross-ethnic population carrier screening panel

    Yaron Einhorn, M. Einhorn, Y. Yaron, Dror Steinberg +10 more

    2022Genetics in Medicine0 citations Open access

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15. Variant-level Matching Tools

    E. Rodrigues, Sean Griffith, R. Martin, C. Antonescu +13 more

    20210 citations Open access

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