Publications by authors named "Janda Jenkins"

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Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans.
Victoria E Rael, Julian A Yano, John P Huizar, Leianna C Slayden, Madeleine A Weiss, Janda L Jenkins

J Exp Med· August 2024

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Insurance denials and diagnostic rates in a pediatric genomic research cohort.
Tricia N Zion, Courtney D Berrios, Ana S A Cohen, Lauren Bartik, Laura A Cross, Janda L Jenkins

Genet Med· May 2023

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Recurrent FOXP4 nonsense variant in two unrelated patients: Association with neurodevelopmental disease and congenital diaphragmatic hernia.
Florencia Del Viso, Dihong Zhou, Isabelle Thiffault, Caitlin Lawson, Laura Cross, Janda Jenkins

Am J Med Genet A· January 2023

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Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes.
Ana S A Cohen, Emily G Farrow, Ahmed T Abdelmoity, Joseph T Alaimo, Shivarajan M Amudhavalli, Janda L Jenkins

Genet Med· June 2022

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Delayed diagnosis of holocarboxylase synthetase deficiency in three patients with prominent skin findings.
Maxime Cadieux-Dion, Jennifer Gannon, Brandon Newell, Amy Jo Nopper, Janda Jenkins

Pediatr Dermatol· May 2021

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De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.
Ilana Chilton, Volkan Okur, Giuseppina Vitiello, Angelo Selicorni, Milena Mariani, Janda L Jenkins

Am J Med Genet A· May 2020

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-Related Hypertrophic Cardiomyopathy Without Typical Noonan Syndrome Features.
Janda Jenkins, Aliessa Barnes, Brian Birnbaum, John Papagiannis, Isabelle Thiffault

Circ Genom Precis Med· April 2020

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Clinical genome sequencing in an unbiased pediatric cohort.
Isabelle Thiffault, Emily Farrow, Lee Zellmer, Courtney Berrios, Neil Miller, Janda Jenkins

Genet Med· February 2019

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Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy.
Ewen W Sommerville, Xiao-Long Zhou, Monika Oláhová, Janda Jenkins, Liliya Euro

Hum Mol Genet· January 2019

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A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes.
Isabelle Thiffault, Carol Saunders, Janda Jenkins, Nikita Raje, Kristi Canty

BMC Med Genet· May 2015

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