Grace VanNoy
7PUBLICATIONS
127CO-AUTHORS
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Publications (7)
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|Mar 13, 2026
Ultra-rare biallelic THAP12 variants cause loss of function and underlie severe epileptic encephalopathy.Katarzyna Ochenkowska, Bryce Rampal, Antoine Légaré
|Sep 04, 2024
Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection.Shloka Negi, Sarah L Stenton, Seth I Berger
|Jun 03, 2024
STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci.Laurel Hiatt, Ben Weisburd, Egor Dolzhenko
|Apr 22, 2024
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.Yuyang Chen, Ruebena Dawes, Hyung Chul Kim
|Apr 02, 2024
Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders.Clara Houdayer, A Marie Phillips, Marie Chabbert
|Aug 08, 2022
Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain.Laura Keehan, Isabel Haviland, Yoel Gofin
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Frequent Collaborators
6 joint publications
Anne O'Donnell-Luria
3 joint publications
Jill A Rosenfeld
2 joint publications
Yoel Gofin
2 joint publications
Cas Simons
2 joint publications
Lindsay C Burrage
2 joint publications
Heidi L Rehm
2 joint publications
Seema R Lalani
2 joint publications
Monica Wojcik
2 joint publications
Seth I Berger
2 joint publications
Lynn Pais
