Author
Leiden University Medical CenterORCID 0000-0002-2443-3906Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
4 papers
Recent·Most cited
Morad Ansari, Kamli N. W. Faour, Akiko Shimamura…·Philip M. Boone
The paper identifies SMC3 loss-of-function variants associated with variable growth and developmental features, including some unexpected phenotypes like bone marrow failure and leukemia.
Annalisa Vetro, Cristiana Pelorosso, Simona Balestrini…·Ellen Thomas
This study identifies TMEM63B variants in patients with developmental and epileptic encephalopathy and neurodegeneration, showing altered cation currents and hematological abnormalities.
Floranne Boulogne, Laura R. Claus, Henry H. Wiersma…·Albertien M. van Eerde
KidneyNetwork predicts kidney-specific gene functions and disease phenotypes using co-expression networks, identifying ALG6 as a candidate gene for kidney and liver cysts in undiagnosed patients.
Galen E.B. Wright, Jennifer A. Collins, Chris Kay…·Michael R. Hayden
This study identifies a genetic variant that reduces interruption between CAG and CCG repeats in the HTT gene, leading to earlier onset of Huntington disease and increased somatic instability.