Chiurazzi P. and Pirozzi F. 2016 Advances in understanding - genetic basis of intellectual disability. F1000Rev. 5, 599.
de Ligt J., Willemsen M. H., van Bon B. W., Kleefstra T., Yntema H. G., Kroes T. et al. 2012 Diagnostic exome sequencing in persons with severe intellectual disability. N. Engl. J. Med. 367, 1921–1929.
Harrison S. M., Biesecker L. G. and Rehm H. L. 2019 Overview of specifications to the ACMG/AMP variant interpretation guidelines. Curr. Protoc. Hum. Genet. 103, e93.
Article PubMed PubMed Central Google Scholar
Hu H., Haas S. A., Chelly J., Van Esch H., Raynaud M., de Brouwer A. P. et al. 2016 X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. Mol. Psychiatry 21, 133–148.
Article CAS PubMed Google Scholar
Hu J. H., Yang L., Kammermeier P. J., Moore C. G., Brakeman P. R., Tu J. et al. 2012 Preso1 dynamically regulates group I metabotropic glutamate receptors. Nat. Neurosci. 15, 836–844.
Article CAS PubMed PubMed Central Google Scholar
Jansen S., Vissers L. E. L. M. and de Vries B. B. A. 2023 The genetics of intellectual disability. Brain Sci. 13, 231.
Article CAS PubMed PubMed Central Google Scholar
Kochinke K., Zweier C., Nijhof B., Fenckova M., Cizek P., Honti F. et al. 2016 Systematic phenomics analysis deconvolutes genes mutated in intellectual disability into biologically coherent modules. Am. J. Hum. Genet. 98, 149–164.
Article CAS PubMed PubMed Central Google Scholar
Lee H. W., Choi J., Shin H., Kim K., Yang J., Na M. et al. 2008 Preso, a novel PSD-95-interacting FERM and PDZ domain protein that regulates dendritic spine morphogenesis. J. Neurosci. 28, 14546–14556.
Article CAS PubMed PubMed Central Google Scholar
Levy A. M., Gomez-Puertas P. and Tümer Z. 2022 Neurodevelopmental disorders associated with PSD-95 and its interaction partners. Int. J. Mol. Sci. 23, 4390.
Article CAS PubMed PubMed Central Google Scholar
Piard J., Hu J. H., Campeau P. M., Rzonca S., Van Esch H., Vincent E. et al. 2018 FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis. Hum. Mol. Genet. 27, 589–600.
Article CAS PubMed Google Scholar
Richards S., Aziz N., Bale S., Bick D., Das S., Gastier-Foster J. et al. 2015 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet. Med. 17, 405–424.
Article PubMed PubMed Central Google Scholar
Subspecialty Group of Neurology, Chinese Society of Pediatrics, Chinese Medical Association, & Project Expert Group of Childhood Neuropathy, China Neurologist Association 2018 Experts' consensus on the diagnostic strategies of etiology for intellectual disability or global developmental delay in children. Zhonghua. Er. Ke. Za. Zhi. 56, 806–810.
Vissers L. E., Gilissen C. and Veltman J. A. 2016 Genetic studies in intellectual disability and related disorders. Nat. Rev. Genet. 17, 9–18.
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