Primary microcephaly

[1]. Abubakar Moawia, et al. Mutations of KIF14 cause primary microcephaly by impairing cytokinesis. Ann Neurol. 2017 Oct;82(4):562-577. [Content Brief]

[2]. Andrew DiStasio, et al. Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly. Hum Mol Genet. 2017 Dec 15;26(24):4836-4848. [Content Brief]

[3]. Andrew P Jackson, et al. Identification of microcephalin, a protein implicated in determining the size of the human brain. Am J Hum Genet. 2002 Jul;71(1):136-42. [Content Brief]

[4]. Anne Genin, et al. Kinetochore KMN network gene CASC5 mutated in primary microcephaly. Hum Mol Genet. 2012 Dec 15;21(24):5306-17. [Content Brief]

[5]. Arun Kumar, et al. Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly. Am J Hum Genet. 2009 Feb;84(2):286-90. [Content Brief]

[6]. C Geoffrey Woods, et al. Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings. Am J Hum Genet. 2005 May;76(5):717-28. [Content Brief]

[7]. Carol-Anne Martin, et al. Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis. Genes Dev. 2016 Oct 1;30(19):2158-2172. [Content Brief]

[8]. Daniela A Braun, et al. Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. J Clin Invest. 2018 Oct 1;128(10):4313-4328. [Content Brief]

[9]. David A Parry, et al. Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy. Genet Med. 2021 Feb;23(2):408-414. [Content Brief]

[10]. Dianne Abuelo, et al. Microcephaly syndromes. Semin Pediatr Neurol. 2007 Sep;14(3):118-27. [Content Brief]

[11]. Duane L Guernsey, et al. Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4. Am J Hum Genet. 2010 Jul 9;87(1):40-51. [Content Brief]

[12]. Francesca Cristofoli, et al. De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity. Am J Hum Genet. 2020 Oct 1;107(4):753-762. [Content Brief]

[13]. Ghayda M Mirzaa, et al. Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism. Hum Genet. 2014 Aug;133(8):1023-39. [Content Brief]

[14]. Jacquelyn Bond, et al. A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. Nat Genet. 2005 Apr;37(4):353-5. [Content Brief]

[15]. Jacquelyn Bond, et al. ASPM is a major determinant of cerebral cortical size. Nat Genet. 2002 Oct;32(2):316-20. [Content Brief]

[16]. James Cox, et al. What primary microcephaly can tell us about brain growth. Trends Mol Med. 2006 Aug;12(8):358-66. [Content Brief]

[17]. Muhammad Farooq, et al. RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis. Nat Commun. 2020 Nov 16;11(1):5816. [Content Brief]

[18]. Muhammad S Hussain, et al. CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly. Hum Mol Genet. 2013 Dec 20;22(25):5199-214. [Content Brief]

[19]. Muhammad Sajid Hussain, et al. A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function. Am J Hum Genet. 2012 May 4;90(5):871-8. [Content Brief]

[20]. Muzammil A Khan, et al. A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family. Hum Mol Genet. 2014 Nov 15;23(22):5940-9. [Content Brief]

[21]. Rotem Kadir, et al. ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size. PLoS Genet. 2016 Mar 23;12(3):e1005919. [Content Brief]

[22]. Salma Awad, et al. Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis. Hum Mol Genet. 2013 Jun 1;22(11):2200-13. [Content Brief]

[23]. Shinya Yamamoto, et al. A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases. Cell. 2014 Sep 25;159(1):200-214. [Content Brief]

[24]. Sulman Basit, et al. CIT, a gene involved in neurogenic cytokinesis, is mutated in human primary microcephaly. Hum Genet. 2016 Oct;135(10):1199-207. [Content Brief]

[25]. V Bhat, et al. Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations. Clin Genet. 2011 Dec;80(6):532-40. [Content Brief]

[26]. Vafa Alakbarzade, et al. A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome. Nat Genet. 2015 Jul;47(7):814-7. [Content Brief]

[27]. Yawei J Yang, et al. Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiation. Cell. 2012 Nov 21;151(5):1097-112. [Content Brief]

[28]. Yonatan Perez, et al. Mutations in the microtubule-associated protein MAP11 (C7orf43) cause microcephaly in humans and zebrafish. Brain. 2019 Mar 1;142(3):574-585. [Content Brief]