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Exome sequencing identifies recessive CDK5RAP2 variants in patients with isolated agenesis of corpus callosum.
Eur J Hum Genet. 2016 Apr;24(4):607-10. doi: 10.1038/ejhg.2015.156. Epub 2015 Jul 22.
Eur J Hum Genet. 2016.
PMID: 26197979
Free PMC article.
Molecular and cellular basis of autosomal recessive primary microcephaly.
Barbelanne M, Tsang WY.
Barbelanne M, et al.
Biomed Res Int. 2014;2014:547986. doi: 10.1155/2014/547986. Epub 2014 Dec 8.
Biomed Res Int. 2014.
PMID: 25548773
Free PMC article.
Review.
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Pathogenic NPHP5 mutations impair protein interaction with Cep290, a prerequisite for ciliogenesis.
Barbelanne M, Song J, Ahmadzai M, Tsang WY.
Barbelanne M, et al.
Hum Mol Genet. 2013 Jun 15;22(12):2482-94. doi: 10.1093/hmg/ddt100. Epub 2013 Feb 27.
Hum Mol Genet. 2013.
PMID: 23446637
Free PMC article.
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Nephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery.
Barbelanne M, Hossain D, Chan DP, Peränen J, Tsang WY.
Barbelanne M, et al.
Hum Mol Genet. 2015 Apr 15;24(8):2185-200. doi: 10.1093/hmg/ddu738. Epub 2014 Dec 30.
Hum Mol Genet. 2015.
PMID: 25552655
Free PMC article.
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Opposing post-translational modifications regulate Cep76 function to suppress centriole amplification.
Barbelanne M, Chiu A, Qian J, Tsang WY.
Barbelanne M, et al.
Oncogene. 2016 Oct 13;35(41):5377-5387. doi: 10.1038/onc.2016.74. Epub 2016 Apr 11.
Oncogene. 2016.
PMID: 27065328
Free PMC article.
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Requirement of NPHP5 in the hierarchical assembly of basal feet associated with basal bodies of primary cilia.
Hossain D, Barbelanne M, Tsang WY.
Hossain D, et al. Among authors: barbelanne m.
Cell Mol Life Sci. 2020 Jan;77(1):195-212. doi: 10.1007/s00018-019-03181-7. Epub 2019 Jun 8.
Cell Mol Life Sci. 2020.
PMID: 31177295
Free PMC article.
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