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Works (4)

STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci

2024-05-21 | Preprint
DOI: 10.1101/2024.05.21.24307682
Contributors: Laurel Hiatt; Ben Weisburd; Egor Dolzhenko; Grace E. VanNoy; Edibe Nehir Kurtas; Heidi L. Rehm; Aaron Quinlan; Harriet Dashnow
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Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project

2023-08-04 | Preprint
DOI: 10.1101/2023.08.02.23293212
Contributors: Sarah L. Stenton; Melanie O’Leary; Gabrielle Lemire; Grace E. VanNoy; Stephanie DiTroia; Vijay S. Ganesh; Emily Groopman; Emily O’Heir; Brian Mangilog; Ikeoluwa Osei-Owusu et al.
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Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain

American Journal of Medical Genetics Part A
2022-12 | Journal article
DOI: 10.1002/ajmg.a.62940
Contributors: Laura Keehan; Isabel Haviland; Yoel Gofin; Lindsay C. Swanson; Christelle Moufawad El Achkar; John Schreiber; Grace E. VanNoy; Emily O'Heir; Anne O'Donnell‐Luria; Richard Alan Lewis et al.
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Reconsidering Genetic Testing for Neonatal Polycystic Kidney Disease

Kidney International Reports
2020-08 | Journal article
DOI: 10.1016/j.ekir.2020.05.008
Contributors: Grace E. VanNoy; Monica H. Wojcik; Casie A. Genetti; Thomas E. Mullen; Pankaj B. Agrawal; Deborah R. Stein
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