Publications by authors named "Jessica Tenney"

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A novel splice site variant in leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolved.
Holly C Beale, Victor Tse, Joanna Y Lee, Jon Akutagawa, Yusuph Mavura, Jessica Tenney

medRxiv· April 2025

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Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders.
James Liu, Yi He, Cara Lwin, Marina Han, Bin Guan, Jessica Tenney

Brain· June 2024

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CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.
Henry Oppermann, Elia Marcos-Grañeda, Linnea A Weiss, Christina A Gurnett, Anne Marie Jelsig, Jessica Tenney

Eur J Hum Genet· November 2023

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Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Anne Slavotinek, Shannon Rego, Nuriye Sahin-Hodoglugil, Mark Kvale, Billie Lianoglou, Jessica Tenney

NPJ Genom Med· October 2023

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Utility of genetic work-up for 46, XY patients with severe hypospadias.
Priya Srivastava, Jessica Tenney, Maya Lodish, Anna Slavotinek, Laurence Baskin

J Pediatr Urol· June 2023

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Neuropathy target esterase activity predicts retinopathy among disorders.
James Liu, Yi He, Cara Lwin, Marina Han, Bin Guan, Jessica Tenney

bioRxiv· June 2023

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TRAPPC9-related neurodevelopmental disorder: Report of a homozygous deletion in TRAPPC9 due to paternal uniparental isodisomy.
Monica Penon-Portmann, Ugur Hodoglugil, Wiita Arun P, Tiffany Yip, Anne Slavotinek, Jessica L Tenney

Am J Med Genet A· April 2023

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Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.
Federico Tessadori, Karen Duran, Karen Knapp, Matthias Fellner, , Jessica Tenney

Am J Hum Genet· April 2022

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Publisher Correction: Application of full-genome analysis to diagnose rare monogenic disorders.
Joseph T Shieh, Monica Penon-Portmann, Karen H Y Wong, Michal Levy-Sakin, Michelle Verghese, Jessica Tenney

NPJ Genom Med· October 2021

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Application of full-genome analysis to diagnose rare monogenic disorders.
Joseph T Shieh, Monica Penon-Portmann, Karen H Y Wong, Michal Levy-Sakin, Michelle Verghese, Jessica Tenney

NPJ Genom Med· September 2021

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NRP1 haploinsufficiency predisposes to the development of Tetralogy of Fallot.
Ivan Duran, Jessica Tenney, Carmen M Warren, Anna Sarukhanov, Fabiana Csukasi

Am J Med Genet A· March 2018

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Correction: Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis.
Felipe Marques, Jessica Tenney, Ivan Duran, Jorge Martin, Lisette Nevarez

PLoS Genet· December 2016

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Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis.
Felipe Marques, Jessica Tenney, Ivan Duran, Jorge Martin, Lisette Nevarez

PLoS Genet· September 2016

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