Published in Am J Hum Genet on July 09, 2010
Cerebral organoids model human brain development and microcephaly. Nature (2013) 9.07
CEP152 is a genome maintenance protein disrupted in Seckel syndrome. Nat Genet (2010) 3.25
Towards a molecular architecture of centriole assembly. Nat Rev Mol Cell Biol (2012) 2.33
The human microcephaly protein STIL interacts with CPAP and is required for procentriole formation. EMBO J (2011) 1.98
A primary microcephaly protein complex forms a ring around parental centrioles. Nat Genet (2011) 1.80
Autosomal Recessive Primary Microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum. Orphanet J Rare Dis (2011) 1.78
MCPH1 regulates the neuroprogenitor division mode by coupling the centrosomal cycle with mitotic entry through the Chk1-Cdc25 pathway. Nat Cell Biol (2011) 1.69
Mechanisms and pathways of growth failure in primordial dwarfism. Genes Dev (2011) 1.56
Cdk5rap2 exposes the centrosomal root of microcephaly syndromes. Trends Cell Biol (2011) 1.53
Human microcephaly protein CEP135 binds to hSAS-6 and CPAP, and is required for centriole assembly. EMBO J (2013) 1.53
A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function. Am J Hum Genet (2012) 1.46
Genetic causes of microcephaly and lessons for neuronal development. Wiley Interdiscip Rev Dev Biol (2012) 1.34
CtIP Mutations Cause Seckel and Jawad Syndromes. PLoS Genet (2011) 1.26
Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy. Nat Genet (2014) 1.21
Mitotic spindle (DIS)orientation and DISease: cause or consequence? J Cell Biol (2012) 1.21
Small organelle, big responsibility: the role of centrosomes in development and disease. Philos Trans R Soc Lond B Biol Sci (2014) 1.19
Molecular genetics of human primary microcephaly: an overview. BMC Med Genomics (2015) 1.13
The Stil protein regulates centrosome integrity and mitosis through suppression of Chfr. J Cell Sci (2011) 1.04
Centrosome positioning in vertebrate development. J Cell Sci (2012) 1.03
OSVZ progenitors in the human cortex: an updated perspective on neurodevelopmental disease. Curr Opin Neurobiol (2012) 1.02
ASPM regulates Wnt signaling pathway activity in the developing brain. Genes Dev (2011) 1.01
Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44. Eur J Hum Genet (2011) 0.99
Molecular and cellular basis of autosomal recessive primary microcephaly. Biomed Res Int (2014) 0.98
Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly. BMC Neurol (2011) 0.96
Diseases associated with defective responses to DNA damage. Cold Spring Harb Perspect Biol (2012) 0.94
Microcephaly models in the developing zebrafish retinal neuroepithelium point to an underlying defect in metaphase progression. Open Biol (2013) 0.93
Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25. Am J Med Genet A (2011) 0.92
Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism. Hum Genet (2014) 0.92
Cep63 and cep152 cooperate to ensure centriole duplication. PLoS One (2013) 0.92
Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans. Eur J Hum Genet (2014) 0.92
CEP proteins: the knights of centrosome dynasty. Protoplasma (2013) 0.92
Lack of centrioles and primary cilia in STIL(-/-) mouse embryos. Cell Cycle (2014) 0.91
Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication. Elife (2015) 0.90
Genetic changes shaping the human brain. Dev Cell (2015) 0.89
Two Polo-like kinase 4 binding domains in Asterless perform distinct roles in regulating kinase stability. J Cell Biol (2015) 0.86
Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons. Am J Hum Genet (2016) 0.86
Two Missense Mutations in the Primary Autosomal Recessive Microcephaly Gene MCPH1 Disrupt the Function of the Highly Conserved N-Terminal BRCT Domain of Microcephalin. Mol Syndromol (2012) 0.84
Angelman syndrome protein UBE3A interacts with primary microcephaly protein ASPM, localizes to centrosomes and regulates chromosome segregation. PLoS One (2011) 0.84
Centrobin-centrosomal protein 4.1-associated protein (CPAP) interaction promotes CPAP localization to the centrioles during centriole duplication. J Biol Chem (2014) 0.83
Proliferation control in neural stem and progenitor cells. Nat Rev Neurosci (2015) 0.82
A novel MCPH1 isoform complements the defective chromosome condensation of human MCPH1-deficient cells. PLoS One (2012) 0.81
VIP blockade leads to microcephaly in mice via disruption of Mcph1-Chk1 signaling. J Clin Invest (2011) 0.81
Functional divergence of the brain-size regulating gene MCPH1 during primate evolution and the origin of humans. BMC Biol (2013) 0.80
New frontiers: discovering cilia-independent functions of cilia proteins. EMBO Rep (2015) 0.80
CEP63 deficiency promotes p53-dependent microcephaly and reveals a role for the centrosome in meiotic recombination. Nat Commun (2015) 0.80
Asterless is required for centriole length control and sperm development. J Cell Biol (2016) 0.79
CIT, a gene involved in neurogenic cytokinesis, is mutated in human primary microcephaly. Hum Genet (2016) 0.79
Microcephaly genes evolved adaptively throughout the evolution of eutherian mammals. BMC Evol Biol (2014) 0.78
Deregulation of microcephalin and ASPM expression are correlated with epithelial ovarian cancer progression. PLoS One (2014) 0.78
In utero gene therapy rescues microcephaly caused by Pqbp1-hypofunction in neural stem progenitor cells. Mol Psychiatry (2014) 0.78
MCPH1: a window into brain development and evolution. Front Cell Neurosci (2015) 0.78
Primordial dwarfism: overview of clinical and genetic aspects. Mol Genet Genomics (2015) 0.78
Microcephaly Proteins Wdr62 and Aspm Define a Mother Centriole Complex Regulating Centriole Biogenesis, Apical Complex, and Cell Fate. Neuron (2016) 0.78
Estrogen regulation of microcephaly genes and evolution of brain sexual dimorphism in primates. BMC Evol Biol (2015) 0.77
A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family. Hum Genet (2015) 0.77
Ccdc11 is a novel centriolar satellite protein essential for ciliogenesis and establishment of left-right asymmetry. Mol Biol Cell (2015) 0.77
The AmAZI1ng roles of centriolar satellites during development. PLoS Genet (2013) 0.77
Genetic correlates of the evolving primate brain. Prog Brain Res (2012) 0.76
Refining the phenotype associated with CASC5 mutation. Neurogenetics (2015) 0.76
The Janus soul of centrosomes: a paradoxical role in disease? Chromosome Res (2016) 0.75
A novel single base pair duplication in WDR62 causes primary microcephaly. BMC Med Genet (2014) 0.75
Molecular analysis of 23 Pakistani families with autosomal recessive primary microcephaly using targeted next-generation sequencing. J Hum Genet (2016) 0.75
Opposite chromosome constitutions due to a familial translocation t(1;21)(q43;q22) in 2 cousins with development delay and congenital anomalies: A case report. Medicine (Baltimore) (2017) 0.75
A Novel Deletion Mutation in ASPM Gene in an Iranian Family with Autosomal Recessive Primary Microcephaly. Iran J Child Neurol (2013) 0.75
Recent advances in pericentriolar material organization: ordered layers and scaffolding gels. F1000Res (2017) 0.75
Regional selection of the brain size regulating gene CASC5 provides new insight into human brain evolution. Hum Genet (2016) 0.75
Human microcephaly protein RTTN interacts with STIL and is required to build full-length centrioles. Nat Commun (2017) 0.75
Potential mechanisms of Zika-linked microcephaly. Wiley Interdiscip Rev Dev Biol (2017) 0.75
A simple, fast, and accurate algorithm to estimate large phylogenies by maximum likelihood. Syst Biol (2003) 102.57
SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res (2003) 52.26
MUSCLE: a multiple sequence alignment method with reduced time and space complexity. BMC Bioinformatics (2004) 50.89
Human non-synonymous SNPs: server and survey. Nucleic Acids Res (2002) 50.45
PAML 4: phylogenetic analysis by maximum likelihood. Mol Biol Evol (2007) 45.68
Predicting deleterious amino acid substitutions. Genome Res (2001) 28.95
PANTHER: a library of protein families and subfamilies indexed by function. Genome Res (2003) 21.64
Prediction of deleterious human alleles. Hum Mol Genet (2001) 21.00
CD-Search: protein domain annotations on the fly. Nucleic Acids Res (2004) 16.76
Accounting for human polymorphisms predicted to affect protein function. Genome Res (2002) 14.10
Proteomic characterization of the human centrosome by protein correlation profiling. Nature (2003) 8.74
Evaluation of an improved branch-site likelihood method for detecting positive selection at the molecular level. Mol Biol Evol (2005) 8.74
PANTHER: a browsable database of gene products organized by biological function, using curated protein family and subfamily classification. Nucleic Acids Res (2003) 7.21
Centrioles, centrosomes, and cilia in health and disease. Cell (2009) 5.82
Prediction and analysis of coiled-coil structures. Methods Enzymol (1996) 5.74
A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. Nat Genet (2005) 5.48
Towards a structural basis of human non-synonymous single nucleotide polymorphisms. Trends Genet (2000) 5.41
ASPM is a major determinant of cerebral cortical size. Nat Genet (2002) 4.57
RevTrans: Multiple alignment of coding DNA from aligned amino acid sequences. Nucleic Acids Res (2003) 4.45
Augmin: a protein complex required for centrosome-independent microtubule generation within the spindle. J Cell Biol (2008) 4.10
Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science (2008) 4.04
Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods. Nucleic Acids Res (2006) 4.00
X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. Nat Genet (2006) 3.89
Paircoil2: improved prediction of coiled coils from sequence. Bioinformatics (2005) 3.24
Identification of microcephalin, a protein implicated in determining the size of the human brain. Am J Hum Genet (2002) 3.13
An HMM model for coiled-coil domains and a comparison with PSSM-based predictions. Bioinformatics (2002) 3.11
Aspm specifically maintains symmetric proliferative divisions of neuroepithelial cells. Proc Natl Acad Sci U S A (2006) 3.03
HAUS, the 8-subunit human Augmin complex, regulates centrosome and spindle integrity. Curr Biol (2009) 2.98
Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings. Am J Hum Genet (2005) 2.86
Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications. Hum Mutat (2008) 2.69
Predicting coiled-coil regions in proteins. Curr Opin Struct Biol (1997) 2.47
Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia. Nat Genet (2009) 2.37
Molecular genetics of human microcephaly. Curr Opin Neurol (2001) 2.25
Drosophila asterless and vertebrate Cep152 Are orthologs essential for centriole duplication. Genetics (2008) 2.17
Asterless is a centriolar protein required for centrosome function and embryo development in Drosophila. Curr Biol (2007) 1.99
The augmin complex plays a critical role in spindle microtubule generation for mitotic progression and cytokinesis in human cells. Proc Natl Acad Sci U S A (2009) 1.98
New perspectives for the elucidation of genetic disorders. Am J Hum Genet (2007) 1.89
The microcephaly ASPM gene is expressed in proliferating tissues and encodes for a mitotic spindle protein. Hum Mol Genet (2005) 1.88
Many roads lead to primary autosomal recessive microcephaly. Prog Neurobiol (2009) 1.78
What primary microcephaly can tell us about brain growth. Trends Mol Med (2006) 1.76
Primary autosomal recessive microcephaly: homozygosity mapping of MCPH4 to chromosome 15. Am J Hum Genet (1999) 1.74
Accelerated evolution of the ASPM gene controlling brain size begins prior to human brain expansion. PLoS Biol (2004) 1.54
Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation. J Med Genet (2002) 1.41
Evolution of primary microcephaly genes and the enlargement of primate brains. Curr Opin Genet Dev (2005) 1.40
Human microcephaly. Curr Opin Neurobiol (2004) 1.39
Microcephaly syndromes. Semin Pediatr Neurol (2007) 1.35
Molecular evolution of the brain size regulator genes CDK5RAP2 and CENPJ. Gene (2006) 1.29
Genetic studies of autosomal recessive primary microcephaly in 33 Pakistani families: Novel sequence variants in ASPM gene. Neurogenetics (2006) 1.26
Genetic basis of human brain evolution. Trends Neurosci (2008) 1.22
Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings. Am J Med Genet A (2004) 1.20
Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2. Am J Hum Genet (2009) 1.17
CentrosomeDB: a human centrosomal proteins database. Nucleic Acids Res (2008) 1.16
MICRO syndrome: an entity distinct from COFS syndrome. Am J Med Genet A (2004) 1.15
Lessons learnt from large-scale exon re-sequencing of the X chromosome. Hum Mol Genet (2009) 0.92
Clinical and genetic heterogeneity of Seckel syndrome. Am J Med Genet (2002) 0.85
Novel mutations in the sacsin gene in ataxia patients from Maritime Canada. J Neurol Sci (2009) 0.83
In-situ hybridization localized MUC7 mucin gene expression to the mucous acinar cells of human and MUC7-transgenic mouse salivary glands. Glycoconj J (1998) 0.81
Successful transduction of liver in hemophilia by AAV-Factor IX and limitations imposed by the host immune response. Nat Med (2006) 13.51
Variation in genome-wide mutation rates within and between human families. Nat Genet (2011) 8.84
A coalescent-based method for detecting and estimating recombination from gene sequences. Genetics (2002) 7.41
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. Nat Genet (2006) 6.15
Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis. Nat Genet (2003) 5.82
GIBBERELLIN INSENSITIVE DWARF1 encodes a soluble receptor for gibberellin. Nature (2005) 5.60
Cytokinin oxidase regulates rice grain production. Science (2005) 5.60
CD8(+) T-cell responses to adeno-associated virus capsid in humans. Nat Med (2007) 5.24
Accumulation of phosphorylated repressor for gibberellin signaling in an F-box mutant. Science (2003) 4.44
G protein-coupled receptor-dependent development of human frontal cortex. Science (2004) 4.42
Sirt3-mediated deacetylation of evolutionarily conserved lysine 122 regulates MnSOD activity in response to stress. Mol Cell (2010) 4.19
Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation. N Engl J Med (2009) 3.88
The ethylene response factors SNORKEL1 and SNORKEL2 allow rice to adapt to deep water. Nature (2009) 3.74
Genome-wide variation and identification of vaccine targets in the Plasmodium falciparum genome. Nat Genet (2006) 3.45
The gibberellin signaling pathway is regulated by the appearance and disappearance of SLENDER RICE1 in nuclei. Plant Cell (2002) 3.41
An overview of gibberellin metabolism enzyme genes and their related mutants in rice. Plant Physiol (2004) 3.32
OsSPL14 promotes panicle branching and higher grain productivity in rice. Nat Genet (2010) 3.23
De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia. Proc Natl Acad Sci U S A (2010) 3.13
Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy. Nat Genet (2002) 2.90
Erect leaves caused by brassinosteroid deficiency increase biomass production and grain yield in rice. Nat Biotechnol (2005) 2.89
Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. Am J Hum Genet (2011) 2.86
Six-rowed barley originated from a mutation in a homeodomain-leucine zipper I-class homeobox gene. Proc Natl Acad Sci U S A (2007) 2.82
Identification and characterization of Arabidopsis gibberellin receptors. Plant J (2006) 2.82
The OsTB1 gene negatively regulates lateral branching in rice. Plant J (2003) 2.69
Recombination hotspots and population structure in Plasmodium falciparum. PLoS Biol (2005) 2.67
A rice brassinosteroid-deficient mutant, ebisu dwarf (d2), is caused by a loss of function of a new member of cytochrome P450. Plant Cell (2003) 2.58
Crown rootless1, which is essential for crown root formation in rice, is a target of an AUXIN RESPONSE FACTOR in auxin signaling. Plant Cell (2005) 2.56
Structural basis for gibberellin recognition by its receptor GID1. Nature (2008) 2.54
A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigree. Hum Genet (2004) 2.53
Plasmodium falciparum genome-wide scans for positive selection, recombination hot spots and resistance to antimalarial drugs. Nat Genet (2010) 2.48
Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia. Nat Genet (2009) 2.37
Cep152 acts as a scaffold for recruitment of Plk4 and CPAP to the centrosome. J Cell Biol (2010) 2.33
A novel cytochrome P450 is implicated in brassinosteroid biosynthesis via the characterization of a rice dwarf mutant, dwarf11, with reduced seed length. Plant Cell (2005) 2.30
Human immunoglobulin inhibits liver transduction by AAV vectors at low AAV2 neutralizing titers in SCID mice. Blood (2005) 2.29
Global genetic diversity and evolution of var genes associated with placental and severe childhood malaria. Mol Biochem Parasitol (2006) 2.24
Rational design of a fully active, long-acting PEGylated factor VIII for hemophilia A treatment. Blood (2010) 2.23
Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome. Nat Genet (2011) 2.18
Safety and prolonged activity of recombinant factor VIII Fc fusion protein in hemophilia A patients. Blood (2012) 2.17
Molecular interactions of a soluble gibberellin receptor, GID1, with a rice DELLA protein, SLR1, and gibberellin. Plant Cell (2007) 2.14
Loss-of-function of a rice brassinosteroid biosynthetic enzyme, C-6 oxidase, prevents the organized arrangement and polar elongation of cells in the leaves and stem. Plant J (2002) 2.14
The YABBY gene DROOPING LEAF regulates carpel specification and midrib development in Oryza sativa. Plant Cell (2004) 2.08
Modulation of tolerance to the transgene product in a nonhuman primate model of AAV-mediated gene transfer to liver. Blood (2007) 2.05
Gibberellin receptor and its role in gibberellin signaling in plants. Annu Rev Plant Biol (2007) 2.05
A rice semi-dwarf gene, Tan-Ginbozu (D35), encodes the gibberellin biosynthesis enzyme, ent-kaurene oxidase. Plant Mol Biol (2004) 2.00
The SCF-FBXW5 E3-ubiquitin ligase is regulated by PLK4 and targets HsSAS-6 to control centrosome duplication. Nat Cell Biol (2011) 1.99
Highly sensitive and high-throughput analysis of plant hormones using MS-probe modification and liquid chromatography-tandem mass spectrometry: an application for hormone profiling in Oryza sativa. Plant Cell Physiol (2009) 1.99
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol (2014) 1.95
Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia. Hum Genet (2011) 1.94
Where do gibberellin biosynthesis and gibberellin signaling occur in rice plants? Plant J (2003) 1.87
Structural polymorphism and diversifying selection on the pregnancy malaria vaccine candidate VAR2CSA. Mol Biochem Parasitol (2007) 1.86
Phase 3 study of recombinant factor VIII Fc fusion protein in severe hemophilia A. Blood (2013) 1.84
Genetic manipulation of gibberellin metabolism in transgenic rice. Nat Biotechnol (2003) 1.83
De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment. Am J Hum Genet (2010) 1.79
Comprehensive transcriptome analysis of phytohormone biosynthesis and signaling genes in microspore/pollen and tapetum of rice. Plant Cell Physiol (2008) 1.77
Loss-of-function mutations of the rice GAMYB gene impair alpha-amylase expression in aleurone and flower development. Plant Cell (2003) 1.71
High-resolution genomic analysis of human mitochondrial RNA sequence variation. Science (2014) 1.71
Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates. Am J Hum Genet (2004) 1.70
Mutations in the calcium-related gene IL1RAPL1 are associated with autism. Hum Mol Genet (2008) 1.66
Gibberellin modulates anther development in rice via the transcriptional regulation of GAMYB. Plant Cell (2009) 1.65
Auxin biosynthesis by the YUCCA genes in rice. Plant Physiol (2007) 1.62
Identifying and exploiting grain yield genes in rice. Curr Opin Plant Biol (2008) 1.62
Role for ETS domain transcription factors Pea3/Erm in mouse lung development. Dev Biol (2003) 1.61
SHANK1 Deletions in Males with Autism Spectrum Disorder. Am J Hum Genet (2012) 1.59
Impact of Sim1 gene dosage on the development of the paraventricular and supraoptic nuclei of the hypothalamus. Eur J Neurosci (2009) 1.54
Bub3 reads phosphorylated MELT repeats to promote spindle assembly checkpoint signaling. Elife (2013) 1.52
The GID1-mediated gibberellin perception mechanism is conserved in the Lycophyte Selaginella moellendorffii but not in the Bryophyte Physcomitrella patens. Plant Cell (2007) 1.52
Identification, isolation and pyramiding of quantitative trait loci for rice breeding. Trends Plant Sci (2006) 1.51
The oncogenic serine/threonine kinase Pim-1 directly phosphorylates and activates the G2/M specific phosphatase Cdc25C. Int J Biochem Cell Biol (2005) 1.50
Wolcott-Rallison Syndrome: clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity. Diabetes (2004) 1.50
White-core endosperm floury endosperm-4 in rice is generated by knockout mutations in the C-type pyruvate orthophosphate dikinase gene (OsPPDKB). Plant J (2005) 1.50
Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency. Hum Mutat (2012) 1.50
Peripheral transvenular delivery of adeno-associated viral vectors to skeletal muscle as a novel therapy for hemophilia B. Blood (2010) 1.50
Artificial selection for a green revolution gene during japonica rice domestication. Proc Natl Acad Sci U S A (2011) 1.50
Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome. Am J Med Genet A (2010) 1.49