R. Frank Kooy

May 14, 2024 | nature.com | Jeroen van Reeuwijk |Nicole de Leeuw |R. Frank Kooy |David A. Koolen

AbstractThe prevalence of comorbidities in individuals with neurodevelopmental disorders (NDDs) is not well understood, yet these are important for accurate diagnosis and prognosis in routine care and for characterizing the clinical spectrum of NDD syndromes. We thus developed PhenomAD-NDD, an aggregated database containing the comorbid phenotypic data of 51,227 individuals with NDD, all harmonized into Human Phenotype Ontology (HPO), with in total 3,054 unique HPO terms.

Apr 26, 2024 | nature.com | Emily E. Lubin |Annabel K. Sangree |Rajesh Angireddy |Roberto Mendoza-Londono |Lucie Dupuis |Irene Valenzuela | +23 more

AbstractBryant-Li-Bhoj syndrome (BLBS), which became OMIM-classified in 2022 (OMIM: 619720, 619721), is caused by germline variants in the two genes that encode histone H3.3 (H3-3A/H3F3A and H3-3B/H3F3B) [1–4]. This syndrome is characterized by developmental delay/intellectual disability, craniofacial anomalies, hyper/hypotonia, and abnormal neuroimaging [1, 5].

Aug 7, 2023 | nature.com | Jeroen van Reeuwijk |Nicole de Leeuw |Elke de Boer |Charlotte W. Ockeloen |David A. Koolen |Philippe M Campeau | +9 more

Author notesThese authors contributed equally: Lisenka E. L. M. Vissers, Bert B. A. de Vries. Authors and AffiliationsDepartment of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the NetherlandsAlexander J. M. Dingemans, Kim M. G. Truijen, Lia Goltstein, Jeroen van Reeuwijk, Nicole de Leeuw, Janneke Schuurs-Hoeijmakers, Rolph Pfundt, Illja J. Diets, Elke de Boer, Jet Coenen-van der Spek, Bregje W. van Bon, Noraly Jonis, Charlotte W.

Apr 18, 2023 | nature.com | R. Frank Kooy

Breakthroughs in next-generation sequencing technologies, most notably whole-exome sequencing (WES), have increased genetic diagnostic yield. In individuals diagnosed with a neurodevelopmental disorder such as intellectual disability (ID) or autism, this has improved diagnosis to approximately 30% of cases [1]. However, this implies that more than two-thirds of patients remain without a molecular diagnosis.