Author
Radboud University Medical CenterORCID 0000-0003-0329-1520Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
6 papers
Recent·Most cited
Karen Jaqueline Low, Julia Foreman, Rachel J. Hobson…·Tim James Cole
The paper introduces the LMSz method to construct gene-specific growth charts for rare disorders using z-scores, showing gene-specific centiles and trends in anthropometric data.
Karen Jaqueline Low, Moira Walker, Georgia Treneman‐Evans…·Allan Bayat
This study explores the lived experiences of 91 adults with KBG syndrome, revealing high rates of comorbidities and challenges in adulthood.
Alexander J.M. Dingemans, Sandra Jansen, Jeroen van Reeuwijk…·Bert B A De Vries
PhenomAD-NDD aggregates comorbid phenotypic data from 51,227 pediatric NDD individuals to identify enriched symptoms and improve clinical understanding.
Alexander J.M. Dingemans, Max Hinne, Kim M. G. Truijen…·Bert B A De Vries
PhenoScore quantifies phenotypic similarity using AI and HPO data to improve genetic variant interpretation and genotype-phenotype studies.
Elke de Boer, Charlotte W. Ockeloen, Rosalie A. Kampen…·Tjitske Kleefstra
This study identifies ANKRD11 missense variants as a cause of KBG syndrome by impairing protein stability or transcriptional activity, supporting haploinsufficiency as the underlying mechanism.
Jet van der Spek, Joery den Hoed, Lot Snijders Blok…·Tjitske Kleefstra
The paper shows inherited CHD3 variants cause Snijders Blok-Campeau syndrome with variable expressivity, overlapping with de novo variants' phenotypes, and suggests reduced penetrance is not due to expression compensation.