European Journal of Human Genetics

Published by: Nature Publishing Group  

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  1. Population Sciences Research Program (10)
  2. Clinical Genetics Service (9)
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  9. Sloan Kettering Institute Postdocs (3)
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Formats
  1. Journal Article (10)
  2. Meeting Abstract (6)
  3. Editorial (1)
Groups
  1. Population Sciences Research Program (10)
  2. Clinical Genetics Service (9)
  3. Department of Medicine (9)
  4. GSK Faculty (9)
  5. Solid Tumor Oncology Division (9)
  6. Survivorship Research (8)

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  1. Kenneth Offit (8)
  2. Vijai Joseph (3)
  3. Jada Hamilton (2)
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  6. Yvonne Bombard (2)

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  1. 2024 (6)
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Publishers
  1. Nature Publishing Group (17)

Results (17)


Citation style sort is year ascending, and then by author or title. Author ascending is default.
  • Extracting phenotypes from clinical descriptions using large language models: A comparison between automated and manual approach
    Meeting Abstract

    Berardelli, S.; Gazzo, A.; De Paoli, F.; Limongelli, I.; Rizzo, E.; Magni, P.; Zucca, S.
    European Journal of Human Genetics (2024)

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  • The spectrum of SMARCB1-deficient tumors extends to T-cell lymphomas enriched in children and young adults
    Meeting Abstract

    Fischer, A.; Moreno, N.; Interlandi, M.; Albert, T. K.; Marmann, J.; Glaser, S.; Verma, A.; Patil, P.; Balbach, S. T.; Wagener, R.; more...
    European Journal of Human Genetics (2024)

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  • Deciphering the gene expression signature of high-grade B-cell lymphomas with 11q aberrations
    Meeting Abstract

    Chteinberg, E.; Di Stefano, G.; Löffler-Wirth, H.; Staiger, A. M.; Hillebrecht, S.; Wagener, R.; Bens, S.; Oehl-Huber, K.; Dahlum, S.; Abramov, D.; more...
    European Journal of Human Genetics (2024)

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  • Characterising the contribution of rare protein-coding variants to prostate cancer risk and severity in 36,866 cases
    Meeting Abstract

    Mitchell, J.; Camacho, N.; Shea, P. R.; Stopsack, K.; Joseph, V.; Burren, O.; Penney, K.; Berchuck, J.; Wang, Q. L.; Goldstein, D.; more...
    European Journal of Human Genetics (2024)

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  • Benign splenic lesions in BAP1-tumor predisposition syndrome: A case series
    Journal Article

    Miranda, J.; Dave, P.; Kemel, Y.; Sheikh, R.; Zong, G.; Calderon, L. P.; Will, M.; Liu, Y. L.; Walsh, M.; Stadler, Z. K.; more...
    European Journal of Human Genetics (2024)

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  • Heterogeneity in chromatin states define a disease spectrum in synovial sarcoma
    Meeting Abstract

    Hofvander, J.; Qiu, A.; Lee, K.; Carles, A.; Cao, R.; Moksa, M.; Steif, J.; Goytain, A.; Singer, S.; Andrulis, I.; more...
    European Journal of Human Genetics (2024)

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  • Germline mutations in WNK2 are associated with serrated polyposis syndrome
    Meeting Abstract

    de Lima, Y. S.; Arnau, C.; Muñoz, J.; Herrera-Pariente, C.; Moreira, L.; Ocaña, T.; Díaz-Gay, M.; Franch-Expósito, S.; Cuatrecasas, M.; Carballal, S.; more...
    European Journal of Human Genetics (2023)

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  • Underrepresentation of racial and ethnic minorities in cascade testing for hereditary cancer syndromes
    Editorial

    Ahsan, M. D.; Webster, E. M.; Nguyen, N. T.; Qazi, M.; Levi, S. R.; Diamond, L. C.; Sharaf, R. N.; Frey, M. K.
    European Journal of Human Genetics (2023)

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  • Polygenic risk modeling for prediction of epithelial ovarian cancer risk
    Journal Article

    Dareng, E. O.; Tyrer, J. P.; Barnes, D. R.; Jones, M. R.; Yang, X.; Aben, K. K. H.; Adank, M. A.; Agata, S.; Andrulis, I. L.; Anton-Culver, H.; more...
    European Journal of Human Genetics (2022)

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  • Resolving pathogenicity classification for the CDH1 c.[715G>A] (p.Gly239Arg) variant
    Journal Article

    Yelskaya, Z.; Arnold, A. G.; Marcell, V. J.; Tang, L. H.; Salo-Mullen, E. E.; Strong, V. E.; Stadler, Z. K.; Zhang, L.
    European Journal of Human Genetics (2021)

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    • European Journal of Human Genetics – authorized name for:

    Name ISSN / ISBN Publisher
    European Journal of Human Genetics 1018-4813 Springernature
    European Journal of Human Genetics 1018-4813 Springer Nature
    European Journal of Human Genetics 1018-4813 Macmillan Publishers Limited
    European Journal of Human Genetics 1018-4813 Nature Publishing Group
    European Journal of Human Genetics 10184813 The Author(s) 2024
    European Journal of Human Genetics 10184813 2019, European Society of Human Genetics
    European Journal of Human Genetics 1018-4813 Nature Publishing Group
    European Journal of Human Genetics 1018-4813 Unknown
    European Journal of Human Genetics 10184813 Unknown
    European Journal of Human Genetics 10184813 European Society of Human Genetics
    European Journal of Human Genetics 1018-4813 Nature Publishing Group
    European Journal of Human Genetics 10184813 2018, European Society of Human Genetics
    European Journal of Human Genetics 1018-4813 Nature Publishing Group
    European Journal of Human Genetics 14765438 Macmillan Publishers Limited