Meghan Towne
9PUBLICATIONS
90CO-AUTHORS
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Publications (9)
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|Mar 05, 2026
Utility of Targeted RNA Analysis in Neurogenetic Disorders.Shoji Ichikawa, Katie Yergert, Brooklynn Gasser
|Dec 19, 2025
DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE PCBP1 CAUSE A NEURODEVELOPMENTAL DISORDER.Wallid Deb, Thomas Besnard, Florence Desprez
|Nov 22, 2024
Hereditary Transthyretin Amyloidosis in Patients Referred to a Genetic Testing Program.Kunal Bhatt, Diego H Delgado, Sami Khella
|May 31, 2023
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.Frédéric Ebstein, Sébastien Küry, Victoria Most
|May 15, 2023
How parents of children with ataxia-telangiectasia use dynamic coping to navigate cyclical uncertainty.Julia Schiller, Meghan C Towne, Rachel Epstein
|Feb 10, 2022
Diagnostic testing laboratories are valuable partners for disease gene discovery: 5-year experience with GeneMatcher.Meghan C Towne, Mari Rossi, Bess Wayburn
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Frequent Collaborators
3 joint publications
Kelly D Farwell Hagman
2 joint publications
Zöe Powis
2 joint publications
Erika Palmaer
2 joint publications
Stéphane Bézieau
2 joint publications
Frederic Ebstein
2 joint publications
Sébastien Küry
2 joint publications
Frédéric Laumonnier
2 joint publications
Thomas Besnard
2 joint publications
Wallid Deb
1 joint publications
Valerie A Arboleda
