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Office
295 S Chipeta Way
Salt Lake City, UT 84108Phone+1 801-581-8943Fax+1 801-585-7252- Is this information wrong?
Education & Training
- University of Utah HealthResidency, Medical Genetics and Genomics, 2005 - 2007
- Centers for Disease Control and PreventionResidency, Public Health and General Preventive Medicine, 1994 - 1996
- University of Cattolica del Sacro CuoreClass of 1985
Certifications & Licensure
- UT State Medical License 2007 - 2026
- WY State Medical License 2012 - 2024
- American Board of Medical Genetics and Genomics Clinical Biochemical Genetics
- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Awards, Honors, & Recognition
- Regional Top Doctor Castle Connolly, 2014
Clinical Trials
- Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network Start of enrollment: 2015 Sep 16
Roles: Contact
Publications & Presentations
PubMed
- Gastroschisis prevalence patterns in 27 surveillance programs from 24 countries, International Clearinghouse for Birth Defects Surveillance and Research, 1980-2017.Feldkamp, M., Canfield, M., Krikov, S., Prieto-Merino, D., Šípek, A., LeLong, N., Amar, E., Rissmann, A., Csaky-Szunyogh, M., Tagliabue, G., Pierini, A., Gatt, M., Ber...> ;Birth Defects Research. 2024 Feb 1
- Novel molecular mechanism in Malan syndrome uncovered through genome sequencing reanalysis, exon-level Array, and RNA sequencing.Zhao, J., Longo, N., Lewis, R., Nicholas, T., Boyden, S., Andrews, A., Larson, A., , Bayrak-Toydemir, P., Botto, L., Mao, R.> ;American Journal of Medical Genetics. Part A. 2024 Jan 2
- International Undiagnosed Diseases Programs (UDPs): components and outcomes.Ela Curic, Lisa Ewans, Ryan Pysar, Fulya Taylan, Lorenzo D Botto, Ann Nordgren, William Gahl, Elizabeth Emma Palmer> ;Orphanet Journal of Rare Diseases. 2023 Nov 9
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Journal Articles
- Delineation of the 9q31 Deletion Syndrome: Genomic Microarray Characterization of Two Patients with Overlapping DeletionsLorenzo D Botto, Jose A Camacho, Reha M Toydemir, Sarah L Dugan, American Journal of Medical Genetics Part A
Press Mentions
- Undiagnosed Diseases Network Expands to Include University of UtahOctober 2nd, 2018
- The NIH Undiagnosed Diseases Network ExpandsSeptember 24th, 2018
- PhD Position @QMUL-London: ERC Project on FLOW-INDUCED DEFORMATION OF SUSPENDED 2D NANOMATERIALSJuly 26th, 2018
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Hospital Affiliations
- Primary Children's HospitalSalt Lake City, Utah
- University of Utah HealthSalt Lake City, Utah
- Shriners Hospitals for Children-Salt Lake CitySalt Lake City, Utah
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