Associated Papers
Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders.
Boonsawat P et al.
Npj Genomic Medicine, 2022
35906228 (PubMed )
Supplement: 41525_2022_316_MOESM3_ESM.xlsx › Supplementary_Table_4b
Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease.
Gungor S et al.
Iscience, 2021
An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan.
Rasool S et al.
Molecular Genetics & Genomic Medicine, 2020
32677750 (PubMed )
Supplement: MGG3-8-e1408-s002.pdf
CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects.
Nasser H et al.
Journal of Medical Genetics, 2020
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly.
Boonsawat P et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Activation of an exonic splice-donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities.
Pagnamenta AT et al.
Clinical Case Reports, 2016
27761245 (PubMed )
Supplement: CCR3-4-0952-s001.docx
Mutations in CDK5RAP2 cause Seckel syndrome.
Yigit G et al.
Molecular Genetics & Genomic Medicine, 2015
Stem cells on the brain: modeling neurodevelopmental and neurodegenerative diseases using human induced pluripotent stem cells.
Srikanth P et al.
Journal of Neurogenetics, 0
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