Ingrid M. Wentzensen

Loss of tubulin deglutamylase CCP1 causes infantile‐onset neurodegeneration

Vandana Shashi, Maria M. Magiera, Dennis Klein et al. · The EMBO Journal · 2018 · 127 citations · Full text

Life Sciences, Neurobiology, Neuroscience +12

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Lot Snijders Blok, Justine Rousseau, Joanna Twist et al. · Nature Communications · 2018 · 121 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Response to androgen therapy in patients with dyskeratosis congenita

Payal P. Khincha, Ingrid M. Wentzensen, Neelam Giri et al. · British Journal of Haematology · 2014 · 110 citations · Full text

Medicine, Dermatology, Hematology +17

Li-Fraumeni syndrome: report of a clinical research workshop and creation of a research consortium

David Malkin, Judy E. Garber, Joshua D. Schiffman et al. · Cancer Genetics · 2012 · 104 citations

Medicine, Pediatrics, Human Genetics +3

Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum

Marialetizia Motta, Luca Pannone, Francesca Pantaleoni et al. · The American Journal of Human Genetics · 2020 · 95 citations · Full text

Medicine, Molecular Genetics, Neuroscience +16