1 Cox J, "What primary microcephaly can tell us about brain growth" 12 : 358-366, 2006
2 Ghani-Kakhki M, "Two missense mutations in the primary autosomal recessive microcephaly gene MCPH1 disrupt the function of the highly conserved N-terminal BRCT domain of microcephalin" 3 : 6-13, 2012
3 Trimborn M, "The first missense alteration in the MCPH1 gene causes autosomal recessive microcephaly with an extremely mild cellular and clinical phenotype" 26 : 496-, 2005
4 Garshasbi M, "SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly" 118 : 708-715, 2006
5 Alderton GK, "Regulation of mitotic entry by microcephalin and its overlap with ATR signaling" 8 : 725-733, 2006
6 Neitzel H, "Premature chromosome condensation in humans associated with microcephaly and mental retardation: a novel autosomal recessive condition" 30 : 1015-1022, 2002
7 Trimborn M, "Mutations in microcephalin cause aberrant regulation of chromosome condensation" 75 : 261-266, 2004
8 Shaheen R, "Mutations in CIT, encoding citron rho-interacting serine/threonine kinase, cause severe primary microcephaly in humans" 135 : 1191-1197, 2016
9 Faheem M, "Molecular genetics of human primary microcephaly:An overview" 8 : S4-, 2015
10 Xu X, "Microcephalin is a DNA damage response protein involved in regulation of CHK1 and BRCA1" 279 : 34091-34094, 2004
1 Cox J, "What primary microcephaly can tell us about brain growth" 12 : 358-366, 2006
2 Ghani-Kakhki M, "Two missense mutations in the primary autosomal recessive microcephaly gene MCPH1 disrupt the function of the highly conserved N-terminal BRCT domain of microcephalin" 3 : 6-13, 2012
3 Trimborn M, "The first missense alteration in the MCPH1 gene causes autosomal recessive microcephaly with an extremely mild cellular and clinical phenotype" 26 : 496-, 2005
4 Garshasbi M, "SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly" 118 : 708-715, 2006
5 Alderton GK, "Regulation of mitotic entry by microcephalin and its overlap with ATR signaling" 8 : 725-733, 2006
6 Neitzel H, "Premature chromosome condensation in humans associated with microcephaly and mental retardation: a novel autosomal recessive condition" 30 : 1015-1022, 2002
7 Trimborn M, "Mutations in microcephalin cause aberrant regulation of chromosome condensation" 75 : 261-266, 2004
8 Shaheen R, "Mutations in CIT, encoding citron rho-interacting serine/threonine kinase, cause severe primary microcephaly in humans" 135 : 1191-1197, 2016
9 Faheem M, "Molecular genetics of human primary microcephaly:An overview" 8 : S4-, 2015
10 Xu X, "Microcephalin is a DNA damage response protein involved in regulation of CHK1 and BRCA1" 279 : 34091-34094, 2004
11 Chen J, "Mcph1-deficient mice reveal a role for MCPH1 in otitis media" 8 : e58156-, 2013
12 Pfau RB, "MCPH1 deletion in a newborn with severe microcephaly and premature chromosome condensation" 56 : 609-613, 2013
13 Jackson AP, "Identification of microcephalin, a protein implicated in determining the size of the human brain" 71 : 136-142, 2002
14 I. Ahmad, "Genetic heterogeneity in Pakistani microcephaly families revisited" Wiley-Blackwell 92 (92): 62-68, 2017
15 Ponting C, "Evolution of primary microcephaly genes and the enlargement of primate brains" 15 : 241-248, 2005
16 Trimborn M, "Establishment of a mouse model with misregulated chromosome condensation due to defective Mcph1 function" 5 : e9242-, 2010
17 Farooq M, "Craniosynostosis-microcephaly with chromosomal breakage and other abnormalities is caused by a truncating MCPH1 mutation and is allelic to premature chromosomal condensation syndrome and primary autosomal recessive microcephaly type 1" 152 : 495-497, 2010
18 Ozgen HM, "Copy number changes of the microcephalin 1 gene (MCPH1) in patients with autism spectrum disorders" 76 : 348-356, 2009
19 Perche O, "Combined deletion of two Condensin II system genes (NCAPG2 and MCPH1) in a case of severe microcephaly and mental deficiency" 56 : 635-641, 2013
20 Gul A, "Chishti MS(2006)Genetic studies of autosomal recessive primary microcephaly in 33 Pakistani families : novel sequence variants in ASPM gene" 2 : 105-110, 2006
21 Hussain MS, "CDK6 associates with the centrosome duringmitosis and is mutated in a large Pakistani family with primary microcephaly" 22 : 5199-5214, 2013
22 Girirajan S, "Biesecker LG(2013)Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder" 92 : 221-237, 2013
23 Woods CG, "Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings" 76 : 717-728, 2005
24 Tan CA, "Analysis of ASPM in an ethnically diverse cohort of 400 patient samples: perspectives of the molecular diagnostic laboratory" 85 : 353-358, 2014
25 Alazami AM, "Accelerating novel candidate gene discovery in neurogenetic disorders via wholeexome sequencing of prescreened multiplex consanguineous families" 2 : 148-161, 2015
26 Hosseini MM, "A novel mutation in MCPH1gene in an Iranian family with primary microcephaly" 62 : 1244-1247, 2012
27 Naseer MI, "A novel WDR62 mutation causes primary microcephaly in a large consanguineous Saudi f" 37 : 148-153, 2017
28 Wang JK, "A common SNP of MCPH1 is associated with cranial volume variation in Chinese population" 17 : 1329-1335, 2008
29 Darvish H, "A clinical and molecular genetic study of 112 Iranian families with primary microcephaly" 47 : 823-828, 2010
30 Ghafouri-Fard S, "A case report: autosomal recessive microcephaly caused by a novelmutation inMCPH1 gene" 71 : 149-150, 2015