Penelope E Bonnen

Publication Activity (10 Years)

Years Active: 2019-2021
Publications (10 Years): 2

Top Topics

Transcription Factor

Cell Cycle Arrest

Intellectual Disability

Top Venues

Clinical genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Jennifer Hanson, Daniel Brezavar, Susan Hughes, Shivarajan Amudhavalli, Emily Fleming, Dihong Zhou, Joseph T Alaimo, Penelope E Bonnen
TAB2 variants cause cardiovascular heart disease, connective tissue disorder, and developmental delay. Clinical genetics (2021)
Kristen J Kurtz, Alessandro Baldan, Mikael Nissbeck, Sethu M R Gunja, Penelope E Bonnen, Geraldine Aubert, Sherri Birchansky, Anders Virtanen, Alison A Bertuch
From incomplete penetrance with normal telomere length to severe disease and telomere shortening in a family with monoallelic and biallelic PARN pathogenic variants. Human mutation 40 (12) (2019)