Publications by authors named "Kristy Jay"

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Resolving SLC6A1 variable expressivity with deep clinical phenotyping and Drosophila models.
Kristy L Jay, Nikhita Gogate, Paige I Hall, Kimberly M Ezell, Jonathan C Andrews

HGG Adv· October 2025

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Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly.
Yue Huang, Kristy L Jay, Alden Yen-Wen Huang, Jijun Wan, Sharayu V Jangam

Genet Med· November 2024

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Resolution of variable expressivity in a multi-generational family using deep clinical phenotyping and models.
Kristy L Jay, Nikhita Gogate, Kim Ezell, Jonathan C Andrews, Sharayu V Jangam

medRxiv· September 2024

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A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster.
Sharayu V Jangam, Lauren C Briere, Kristy L Jay, Jonathan C Andrews, Melissa A Walker

Genetics· August 2023

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A comprehensive Drosophila resource to identify key functional interactions between SARS-CoV-2 factors and host proteins.
Annabel Guichard, Shenzhao Lu, Oguz Kanca, Daniel Bressan, Yan Huang, Kristy L Jay

Cell Rep· August 2023

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A missense variant in associated with developmental delay exhibits functional deficits in .
Sharayu Jangam, Lauren C Briere, Kristy Jay, Jonathan C Andrews, Melissa A Walker

medRxiv· February 2023

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Identification of a de novo FOXP1 mutation and incidental discovery of inherited genetic variants contributing to a case of autism spectrum disorder and epilepsy.
Kristy Jay, Amit Mitra, Taylor Harding, David Matthes, Brian Van Ness

Mol Genet Genomic Med· July 2019

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