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Charlotte de Konink

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15

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180

Citations

6

h-index

6

i10-index

Charlotte de Konink is an academic researcher from Erasmus MC. The author has contributed to research in topics: Genetics and Neurodevelopmental Disorders & Ubiquitin and proteasome pathways & Genetic factors in colorectal cancer. The author has an h-index of 6, co-authored 13 publications.

ORCID: 0000-0001-8689-8808

Research Topics

Genetics and Neurodevelopmental Disorders Ubiquitin and proteasome pathways Genetic factors in colorectal cancer Endoplasmic Reticulum Stress and Disease Congenital heart defects research

Papers by this author

works

Role of CAMK2D in neurodevelopment and associated conditions

2024 · The American Journal of Human Genetics · 32 citations

https://doi.org/10.1016/j.ajhg.2023.12.016

Pomme M.F. Rigter Charlotte de Konink Matthew J. Dunn Martina Proietti Onori

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

2025 · Nature Communications · 2 citations

https://doi.org/10.1038/s41467-025-65556-8

Sébastien Küry Janelle E. Stanton Geeske M. van Woerden Amélie Bosc-Rosati

Research topics

topics

Genetics and Neurodevelopmental Disorders

Ubiquitin and proteasome pathways

Genetic factors in colorectal cancer

Endoplasmic Reticulum Stress and Disease

Congenital heart defects research

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