Publications by authors named "Jessica Tarnowski"

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Impact of integrated translational research on clinical exome sequencing.
Eric W Klee, Margot A Cousin, Filippo Pinto E Vairo, Joel A Morales-Rosado, Erica L Macke, Jessica M Tarnowski

Genet Med· February 2023

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Impact of integrated translational research on clinical exome sequencing.
Eric W Klee, Margot A Cousin, Filippo Pinto E Vairo, Joel A Morales-Rosado, Erica L Macke, Jessica M Tarnowski

Genet Med· March 2021

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Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome.
Àngels García-Cazorla, Edgard Verdura, Natalia Juliá-Palacios, Eric N Anderson, Leire Goicoechea, Jessica M Tarnowski

Acta Neuropathol· December 2020

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Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome.
Viviana Cordeddu, Erica L Macke, Francesca Clementina Radio, Stefania Lo Cicero, Francesca Pantaleoni, Jessica M Tarnowski

Clin Genet· August 2020

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Bosch-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 further expanding the BBSOAS phenotype.
Rodrigo Tzovenos Starosta, Jessica Tarnowski, Filippo Pinto E Vairo, Kimiyo Raymond, Graeme Preston

Eur J Med Genet· July 2020

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Further delineation of the phenotypic spectrum associated with hemizygous loss-of-function variants in NONO.
Maham Sewani, Kimberly Nugent, Patrick R Blackburn, Jessica M Tarnowski, Andres Hernandez-Garcia

Am J Med Genet A· April 2020

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Characteristics of Orofacial Clefting in Hawai'i.
Lily Hoffman-Andrews, Jessica M Tarnowski, Sansan Lee, Lianne Hasegawa-Evans, Helen L Lau

Hawaii J Health Soc Welf· August 2019

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