Research output per year
Research output per year
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
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Delineation of the 1q24.3 microdeletion syndrome provides further evidence for the potential role of non-coding RNAs in regulating the skeletal phenotype
Shepherdson, J. L., Zheng, H., Amarillo, I. E., McAlinden, A. & Shinawi, M., Jan 2021, In: Bone. 142, 115705.Research output: Contribution to journal › Article › peer-review
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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 journal › Article › peer-review
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., Dec 1 2020, In: Journal of Medical Genetics. 57, 12, p. 851-857 7 p.Research output: Contribution to journal › Article › peer-review
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, , Jul 1 2019, In: Journal of Medical Genetics. 56, 7, p. 427-433 7 p.Research output: Contribution to journal › Article › peer-review
Open Access3 Scopus citations -
Inherited deletion of 1q, hyperparathyroidism and signs of y-chromosomal influence in a patient with turner syndrome
Siller, A. F., Shimony, A., Shinawi, M., Amarillo, I., Dehner, L. P., Semenkovich, K. & Arbeláez, A. M., Mar 2019, In: JCRPE Journal of Clinical Research in Pediatric Endocrinology. 11, 1, p. 88-93 6 p.Research output: Contribution to journal › Article › peer-review
Open Access