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
Clinical interests
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., 2022, In: Fetal and Pediatric Pathology. 41, 4, p. 682-688 7 p.Research output: Contribution to journal › Article › peer-review
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Identification of Small Regions of Overlap from Copy Number Variable Regions in Patients with Hypospadias
Scott, C. H. & Amarillo, I. E., Apr 1 2022, In: International journal of molecular sciences. 23, 8, 4246.Research output: Contribution to journal › Article › peer-review
Open Access -
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
1 Scopus citations -
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
2 Scopus citations -
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