Associated Papers
Detecting monogenic obesity: a systematic exome-wide workup of over 500 individuals.
Künzel R et al.
International Journal of Obesity (2005), 2025
The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes.
Vos N et al.
Human Genetics, 2024
38787418 (PubMed )
Supplement: 439_2024_2679_MOESM3_ESM.xlsx › S5_Prediction_scores
Clinical phenotypes of individuals with Chung-Jansen syndrome across age groups.
Sudnawa KK et al.
American Journal of Medical Genetics. Part A, 2024
PHIP variants associated with Chung-Jansen syndrome disrupt replication fork stability and genome integrity.
Tirado-Class N et al.
Cold Spring Harbor Molecular Case Studies, 2022
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM10_ESM.xlsx › Supplementary_Data_8
Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders.
van der Donk R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Clinical and genetic characterization of individuals with predicted deleterious PHIP variants.
Craddock KE et al.
Cold Spring Harbor Molecular Case Studies, 2019
Early loss of mitochondrial complex I and rewiring of glutathione metabolism in renal oncocytoma.
Gopal RK et al.
Proceedings of the National Academy of Sciences of the United States of America, 2018
29915083 (PubMed )
Supplement: pnas.1711888115.sd01.xlsx › Exome_Variants
Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.
Reijnders MRF et al.
Nature Communications, 2017
29051493 (PubMed )
Supplement: 41467_2017_933_MOESM5_ESM.xlsx › All_de_novo_mutations
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