• 113 Citations
20082020

Research output per year

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Personal profile

Research interests

Differences of Sex Development; Gonadoblastoma and Germ Cell Neoplasm; Genomics of Transgender, Gender and Sexual Minorities

Areas of Clinical Interest

Constitutional and cancer cytogenomics, molecular genetics, molecular pathology, disorders of sex development clinical team.

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Research Output

Intragenic CNTN4 copy number variants associated with a spectrum of neurobehavioral phenotypes

Zhang, S. Q., Fleischer, J., Al-Kateb, H., Mito, Y., Amarillo, I. & Shinawi, M., Mar 2020, In : European Journal of Medical Genetics. 63, 3, 103736.

Research output: Contribution to journalArticle

  • 1 Scopus citations

    Rare and de novo duplications containing SHOX in clubfoot

    Sadler, B., Haller, G., Antunes, L., Nikolov, M., Amarillo, I., Coe, B., Dobbs, M. B. & Gurnett, C. A., 2020, (Accepted/In press) In : Journal of Medical Genetics. 106842.

    Research output: Contribution to journalArticle

    Open Access
  • Distal chromosome 16p11.2 duplications containing SH2B1 in patients with scoliosis

    Sadler, B., Haller, G., Antunes, L., Bledsoe, X., Morcuende, J., Giampietro, P., Raggio, C., Miller, N., Kidane, Y., Wise, C. A., Amarillo, I., Walton, N., Seeley, M., Johnson, D., Jenkins, C., Jenkins, T., Oetjens, M., Tong, R. S., Druley, T. E., Dobbs, M. B. & 1 others, Gurnett, C. A., Jul 1 2019, In : Journal of Medical Genetics. 56, 7, p. 427-433 7 p.

    Research output: Contribution to journalArticle

    Open Access
  • 3 Scopus citations
    Open Access
  • 3 Scopus citations