Associated Papers
Expanding the Clinical and Molecular Spectrum of Primary Autosomal Recessive Microcephaly: Novel CDK5RAP2 Gene Variants and Functional Insights on the Intronic Variants.
Yeter B et al.
Genes, 2025
A Rare Cause of Primary Microcephaly: 4 New Variants in CDK5RAP2 Gene and Review of the Literature.
Erdogan M et al.
American Journal of Medical Genetics. Part A, 2025
Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.
Zhang P et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
Background splicing as a predictor of aberrant splicing in genetic disease.
Alexieva D et al.
Rna Biology, 2022
Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease.
Gungor S et al.
Iscience, 2021
International consensus recommendations on the diagnostic work-up for malformations of cortical development.
Oegema R et al.
Nature Reviews. Neurology, 2020
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S et al.
Genome Biology, 2020
Genomic and phenotypic delineation of congenital microcephaly.
Shaheen R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
A new association between CDK5RAP2 microcephaly and congenital cataracts.
Alfares A et al.
Annals of Human Genetics, 2018
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
Mutations in CDK5RAP2 cause Seckel syndrome.
Yigit G et al.
Molecular Genetics & Genomic Medicine, 2015
Molecular genetics of human primary microcephaly: an overview.
Faheem M et al.
Bmc Medical Genomics, 2015
Species-Specific Expression of Full-Length and Alternatively Spliced Variant Forms of CDK5RAP2.
Park JS et al.
Plos One, 2015
The first case of CDK5RAP2-related primary microcephaly in a non-consanguineous patient identified by next generation sequencing.
Tan CA et al.
Brain & Development, 2014
Clinical and cellular features in patients with primary autosomal recessive microcephaly and a novel CDK5RAP2 mutation.
Issa L et al.
Orphanet Journal of Rare Diseases, 2013
A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss.
Pagnamenta AT et al.
American Journal of Medical Genetics. Part A, 2012
What's the hype about CDK5RAP2?
Kraemer N et al.
Cellular and Molecular Life Sciences : Cmls, 2011
Primary microcephaly 3 (MCPH3): revisiting two critical mutations.
Park JS et al.
Cell Cycle (georgetown, Tex.), 2011
Novel alternatively spliced variant form of human CDK5RAP2.
Kim T et al.
Cell Cycle (georgetown, Tex.), 2011
Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly.
Hassan MJ et al.
Bmc Medical Genetics, 2007