Associated Papers
Houge-Janssens syndrome.
Houge GD et al.
European Journal of Human Genetics : Ejhg, 2025
Research progress of the relationship between phosphoprotein phosphatases (PPPs) and neurodevelopmental disorders.
Ji W et al.
Clinical Genetics, 2024
Axon development is regulated at genetic and proteomic interfaces between the integrin adhesome and the RPM-1 ubiquitin ligase signaling hub.
Amezquita J et al.
Biorxiv : the Preprint Server for Biology, 2023
38014183 (PubMed )
Supplement: media-8.xlsx › Human_Genetic_Variants
Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications.
Schobers G et al.
Genome Medicine, 2022
35710456 (PubMed )
Supplement: 13073_2022_1069_MOESM1_ESM.xlsx › Table_S1
Clinical and molecular characteristics of a novel rare de novo variant in PPP2CA in a patient with a developmental disorder, autism, and epilepsy.
Verbinnen I et al.
Frontiers in Cell and Developmental Biology, 2022
Protein Phosphatase 2A (PP2A) mutations in brain function, development, and neurologic disease.
Verbinnen I et al.
Biochemical Society Transactions, 2021
Protein phosphatase 2A - structure, function and role in neurodevelopmental disorders.
Sandal P et al.
Journal of Cell Science, 2021
34228795 (PubMed )
Supplement: supplement_1.pdf
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.
Reynhout S et al.
American Journal of Human Genetics, 2019
Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.
Reijnders MRF et al.
Nature Communications, 2017
A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology.
Vissers LELM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
28333917 (PubMed )
Supplement: gim20171x1.zip › Vissers_GiM-D-16-00442__Supplementary_Table_4.xlsx › Suppl_Table_4
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