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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Confirmation of Xp22.11 Duplication as a Germline Susceptibility Alteration in a Wilms Tumor Arising in Horseshoe Kidney
Zhou, H. F., Amarillo, I. E., Snyder, S., Granadillo, J. L., O’Conor, C. J., Dillon, P., Wilson, D., Huang, F. S., Dehner, L. P. & He, M., 2021, (Accepted/In press) In: Fetal and Pediatric Pathology.Research output: Contribution to journal › Article › peer-review
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Creating Affirmative and Inclusive Practices When Providing Genetic and Genomic Diagnostic and Research Services to Gender-Expansive and Transgender Patients
Theisen, J. G. & Amarillo, I. E., Jan 12 2021, In: The journal of applied laboratory medicine. 6, 1, p. 142-154 13 p.Research output: Contribution to journal › Article › peer-review
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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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Pathogenic paternally inherited NLGN4X deletion in a female with autism spectrum disorder: Clinical, cytogenetic, and molecular characterization
Kopp, N., Amarillo, I., Martinez-Agosto, J. & Quintero-Rivera, F., Mar 2021, In: American Journal of Medical Genetics, Part A. 185, 3, p. 894-900 7 p.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
3 Scopus citations