American Journal of Human Genetics

American Journal of Human Genetics

ISSNs: 0002-9297

Additional searchable ISSN (electronic): 1537-6605

Cell Press, United States

Scopus rating (2023): CiteScore 14.7 SJR 4.516 SNIP 2.381

Journal

Journal Metrics
1 - 4 out of 4Page size: 20

Research Output

  1. 2024
  2. Published

    KnockoffHybrid: A knockoff framework for hybrid analysis of trio and population designs in genome-wide association studies

    Yang, Y., Wang, Q., Wang, C., Buxbaum, J. & Ionita-Laza, I., 11 Jul 2024, In: American Journal of Human Genetics. 111, 7, p. 1448-1461 14 p.

    Research output: Journal Publications and Reviews › RGC 21 - Publication in refereed journal › peer-review

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  3. 2022
  4. Published

    KnockoffTrio: A knockoff framework for the identification of putative causal variants in genome-wide association studies with trio design

    Yang, Y., Wang, C., Liu, L., Buxbaum, J., He, Z. & Ionita-Laza, I., 6 Oct 2022, In: American Journal of Human Genetics. 109, 10, p. 1761-1776 16 p.

    Research output: Journal Publications and Reviews › RGC 21 - Publication in refereed journal › peer-review

    Scopus citations: 1
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  5. 2021
  6. Published

    Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

    105 authors, including, 1. A. I., Richard, E. M. & Li, J., 7 Oct 2021, In: American Journal of Human Genetics. 108, 10, p. 2006-2016

    Research output: Journal Publications and Reviews › RGC 21 - Publication in refereed journal › peer-review

    Scopus citations: 12
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  7. 2020
  8. Published

    Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects

    Duncan, A. R., Vitobello, A., Collins, S. C., Vancollie, V. E., Lelliott, C. J., Rodan, L., Shi, J., & 23 othersSeman, A. R., Agolini, E., Novelli, A., Prontera, P., Guillen Sacoto, M. J., Santiago-Sim, T., Trimouille, A., Goizet, C., Nizon, M., Bruel, A., Philippe, C., Grant, P. E., Wojcik, M. H., Stoler, J., Genetti, C. A., van Dooren, M. F., Maas, S. M., Alders, M., Faivre, L., Sorlin, A., Yoon, G., Yalcin, B. & Agrawal, P. B., 3 Dec 2020, In: American Journal of Human Genetics. 107, 6, p. 1170-1177

    Research output: Journal Publications and Reviews › RGC 21 - Publication in refereed journal › peer-review

    Scopus citations: 13
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