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Office
200 1st St SW
Rochester, MN 55905Phone+1 507-284-2511
Summary
- Dr. Jessica Bortnova, MD is a medical geneticist in Rochester, Minnesota.
Publications & Presentations
PubMed
- 2 citationsImpact of integrated translational research on clinical exome sequencing.Eric W. Klee, Margot A. Cousin, Filippo Vairo, Joel A. Morales-Rosado, Erica L. Macke
Genetics in Medicine. 2021-03-01 - 6 citationsBosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) initially diagnosed as ALG6-CDG: Functional evidence for benignity of the ALG6 c.391T>C (p.Tyr131His) variant and...Rodrigo Tzovenos Starosta, Jessica M. Tarnowski, Filippo Vairo, Kimiyo Raymond, Graeme Preston
European Journal of Medical Genetics. 2020-07-01 - 20 citationsImpairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome.Angels García-Cazorla, Edgard Verdura, Natalia Juliá-Palacios, Eric N. Anderson, Leire Goicoechea
Acta Neuropathologica. 2020-10-05
