
Lorenzo Davide Botto MD
Clinical Biochemical Genetics, Clinical Genetics
Professor, Pediatrics, University of Utah School of Medicine
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100 N Mario Capecchi DrSalt Lake City, UT 84113
Phone+1 801-213-3599
Fax+1 801-585-7252
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Education & Training
- University of Utah HealthResidency, Medical Genetics and Genomics, 2005 - 2007
- Centers for Disease Control and Prevention Public Health and General Preventive MedicineResidency, 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 - 2025
- 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
- Identification of two novel non-coding variants in Diamond-Blackfan Anemia Syndrome patients by whole genome sequencing.Ting Wen, Steven E Boyden, Caleb M Hocutt, Robert G Lewis, Erin E Baldwin
Blood Advances. 2025-03-03 - 4 citationsAction against birth defects: if not now, when?Kathleen Strong, Judith Robb-McCord, Salimah Walani, Cecilia Mellado, Lorenzo D Botto
Global Health Action. 2024-12-31 - 3 citationsMADD-like pattern of acylcarnitines associated with sertraline use.Filippo Ingoglia, Mohsen Tanfous, Benjamin Ellezam, Katherine J Anderson, Marzia Pasquali
Molecular Genetics and Metabolism Reports. 2024-12-01
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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Grant Support
- Intermountain West Clinical Site for the Undiagnosed Disease Network (UDN) ContinuationUNIVERSITY OF UTAH2018–2025
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