Andrew Klaus Sobering

Professor

  • Source: Scopus
  • Calculated based on no. of publications stored in Pure and citations from Scopus
20022022

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  • A novel unbalanced translocation between chromosomes 5p and 18q leading to dysmorphology and global developmental delay

    Verdi, G., Li, D., Elsea, S. H., Nelson, B., Bhoj, E. J., Hakonarson, H., Yearwood, K. R., Upadhya, S., Gluschitz, S., Smith, J. L. & Sobering, A. K., Apr 2022, In: Molecular Genetics and Genomic Medicine. 10, 4, e1900.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology

    University of Washington Center for Mendelian Genomics, Jul 14 2022, In: Human Genetics and Genomics Advances. 3, 3, 100102.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • A dyadic approach to the delineation of diagnostic entities in clinical genomics

    Biesecker, L. G., Adam, M. P., Alkuraya, F. S., Amemiya, A. R., Bamshad, M. J., Beck, A. E., Bennett, J. T., Bird, L. M., Carey, J. C., Chung, B., Clark, R. D., Cox, T. C., Curry, C., Dinulos, M. B. P., Dobyns, W. B., Giampietro, P. F., Girisha, K. M., Glass, I. A., Graham, J. M., Gripp, K. W. & 27 others, Haldeman-Englert, C. R., Hall, B. D., Innes, A. M., Kalish, J. M., Keppler-Noreuil, K. M., Kosaki, K., Kozel, B. A., Mirzaa, G. M., Mulvihill, J. J., Nowaczyk, M. J. M., Pagon, R. A., Retterer, K., Rope, A. F., Sanchez-Lara, P. A., Seaver, L. H., Shieh, J. T., Slavotinek, A. M., Sobering, A. K., Stevens, C. A., Stevenson, D. A., Tan, T. Y., Tan, W. H., Tsai, A. C., Weaver, D. D., Williams, M. S., Zackai, E. & Zarate, Y. A., Jan 7 2021, In: American journal of human genetics. 108, 1, p. 8-15 8 p.

    Research output: Contribution to journalReview articlepeer-review

    Open Access
    25 Scopus citations
  • ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes

    Alsharhan, H., He, M., Edmondson, A. C., Daniel, E. J. P., Chen, J., Donald, T., Bakhtiari, S., Amor, D. J., Jones, E. A., Vassallo, G., Vincent, M., Cogné, B., Deb, W., Werners, A. H., Jin, S. C., Bilguvar, K., Christodoulou, J., Webster, R. I., Yearwood, K. R., Ng, B. G. & 6 others, Freeze, H. H., Kruer, M. C., Li, D., Raymond, K. M., Bhoj, E. J. & Sobering, A. K., Jul 2021, In: Journal of Inherited Metabolic Disease. 44, 4, p. 1001-1012 12 p.

    Research output: Contribution to journalArticlepeer-review

    3 Scopus citations
  • Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome

    Sheppard, S. E., Campbell, I. M., Harr, M. H., Gold, N., Li, D., Bjornsson, H. T., Cohen, J. S., Fahrner, J. A., Fatemi, A., Harris, J. R., Nowak, C., Stevens, C. A., Grand, K., Au, M., Graham, J. M., Sanchez-Lara, P. A., Campo, M. D., Jones, M. C., Abdul-Rahman, O., Alkuraya, F. S. & 83 others, Bassetti, J. A., Bergstrom, K., Bhoj, E., Dugan, S., Kaplan, J. D., Derar, N., Gripp, K. W., Hauser, N., Innes, A. M., Keena, B., Kodra, N., Miller, R., Nelson, B., Nowaczyk, M. J., Rahbeeni, Z., Ben-Shachar, S., Shieh, J. T., Slavotinek, A., Sobering, A. K., Abbott, M. A., Allain, D. C., Amlie-Wolf, L., Au, P. Y. B., Bedoukian, E., Beek, G., Barry, J., Berg, J., Bernstein, J. A., Cytrynbaum, C., Chung, B. H. Y., Donoghue, S., Dorrani, N., Eaton, A., Flores-Daboub, J. A., Dubbs, H., Felix, C. A., Fong, C. T., Fung, J. L. F., Gangaram, B., Goldstein, A., Greenberg, R., Ha, T. K., Hersh, J., Izumi, K., Kallish, S., Kravets, E., Kwok, P. Y., Jobling, R. K., Knight Johnson, A. E., Kushner, J., Lee, B. H., Levin, B., Lindstrom, K., Manickam, K., Mardach, R., McCormick, E., McLeod, D. R., Mentch, F. D., Minks, K., Muraresku, C., Nelson, S. F., Porazzi, P., Pichurin, P. N., Powell-Hamilton, N. N., Powis, Z., Ritter, A., Rogers, C., Rohena, L., Ronspies, C., Schroeder, A., Stark, Z., Starr, L., Stoler, J., Suwannarat, P., Velinov, M., Weksberg, R., Wilnai, Y., Zadeh, N., Zand, D. J., Falk, M. J., Hakonarson, H., Zackai, E. H. & Quintero-Rivera, F., Jun 2021, In: American Journal of Medical Genetics, Part A. 185, 6, p. 1649-1665 17 p.

    Research output: Contribution to journalArticlepeer-review

    2 Scopus citations