Katherine L Helbig
23PUBLICATIONS
210CO-AUTHORS
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Publications (23)
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|Oct 22, 2025
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.Reza Asadollahi, Aisha Ahmad, Paranchai Boonsawat
|Jul 27, 2024
Expanding Genetic Counselor Roles: A Model for Global Research Development.Colleen C Muraresku, Elizabeth M McCormick, Lydia Rockart
|Jul 02, 2024
Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants.Claudia Cuccurullo, Emanuele Cerulli Irelli, Lorenzo Ugga
|Jan 02, 2024
Molecular and Phenotypic Characterization of the <i>RORB</i>-Related Disorder.Zeynep Gokce-Samar, Annalisa Vetro, Julitta De Bellescize
|May 18, 2022
Human <i>KCNQ5</i> de novo mutations underlie epilepsy and intellectual disability.Aguan D Wei, Paul Wakenight, Theresa A Zwingman
|Mar 01, 2022
Caregiver assessment of quality of life in individuals with genetic developmental and epileptic encephalopathies.Stacey R Cohen, Ingo Helbig, Michael C Kaufman
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Frequent Collaborators
8 joint publications
Ingo Helbig
3 joint publications
Renzo Guerrini
3 joint publications
Rami Jamra
3 joint publications
Katrine M Johannesen
3 joint publications
Annalisa Vetro
3 joint publications
Gaetan Lesca
3 joint publications
Elena Gardella
2 joint publications
Patrick May
2 joint publications
Michael C Kaufman
2 joint publications
Sarah Weckhuysen
