Published in Science on January 03, 2008
Quantitative proteomics combined with BAC TransgeneOmics reveals in vivo protein interactions. J Cell Biol (2010) 3.61
Primary microcephaly: do all roads lead to Rome? Trends Genet (2009) 3.60
CEP152 is a genome maintenance protein disrupted in Seckel syndrome. Nat Genet (2010) 3.25
A developmental and genetic classification for malformations of cortical development: update 2012. Brain (2012) 3.14
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Cell (2012) 2.54
Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I. Science (2011) 2.47
Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture. Nat Genet (2010) 2.44
Centrosomes and cilia in human disease. Trends Genet (2011) 2.42
Subdiffraction-resolution fluorescence microscopy reveals a domain of the centrosome critical for pericentriolar material organization. Nat Cell Biol (2012) 2.23
The exon junction complex component Magoh controls brain size by regulating neural stem cell division. Nat Neurosci (2010) 2.13
Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4. Am J Hum Genet (2010) 2.05
A-kinase anchoring proteins: from protein complexes to physiology and disease. IUBMB Life (2009) 1.89
Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome. Nat Genet (2011) 1.76
The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis. Am J Hum Genet (2011) 1.71
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
Meier-Gorlin syndrome mutations disrupt an Orc1 CDK inhibitory domain and cause centrosome reduplication. Genes Dev (2012) 1.66
CDK5RAP2 regulates centriole engagement and cohesion in mice. Dev Cell (2010) 1.61
Mechanisms and pathways of growth failure in primordial dwarfism. Genes Dev (2011) 1.56
Degradation of Cep68 and PCNT cleavage mediate Cep215 removal from the PCM to allow centriole separation, disengagement and licensing. Nat Cell Biol (2014) 1.55
Plk1-dependent and -independent roles of an ODF2 splice variant, hCenexin1, at the centrosome of somatic cells. Dev Cell (2009) 1.55
Cdk5rap2 exposes the centrosomal root of microcephaly syndromes. Trends Cell Biol (2011) 1.53
A unique set of centrosome proteins requires pericentrin for spindle-pole localization and spindle orientation. Curr Biol (2014) 1.52
Microcephalin/MCPH1 associates with the Condensin II complex to function in homologous recombination repair. J Biol Chem (2008) 1.52
Pericentrin in cellular function and disease. J Cell Biol (2009) 1.46
Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III. Acta Neuropathol (2010) 1.45
The centriolar satellite proteins Cep72 and Cep290 interact and are required for recruitment of BBS proteins to the cilium. Mol Biol Cell (2012) 1.44
PLK1 phosphorylation of pericentrin initiates centrosome maturation at the onset of mitosis. J Cell Biol (2011) 1.43
CDK5RAP2 functions in centrosome to spindle pole attachment and DNA damage response. J Cell Biol (2010) 1.43
Microcephalin and pericentrin regulate mitotic entry via centrosome-associated Chk1. J Cell Biol (2009) 1.41
Acentriolar mitosis activates a p53-dependent apoptosis pathway in the mouse embryo. Proc Natl Acad Sci U S A (2014) 1.41
New connections between splicing and human disease. Trends Genet (2012) 1.39
The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1. Am J Hum Genet (2009) 1.35
DISC1-binding proteins in neural development, signalling and schizophrenia. Neuropharmacology (2010) 1.27
Small organelle, big responsibility: the role of centrosomes in development and disease. Philos Trans R Soc Lond B Biol Sci (2014) 1.19
Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2. Am J Hum Genet (2009) 1.17
POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism. Am J Hum Genet (2012) 1.13
Protein farnesylation inhibitors cause donut-shaped cell nuclei attributable to a centrosome separation defect. Proc Natl Acad Sci U S A (2011) 1.10
Extreme growth failure is a common presentation of ligase IV deficiency. Hum Mutat (2013) 1.08
A multiplex human syndrome implicates a key role for intestinal cell kinase in development of central nervous, skeletal, and endocrine systems. Am J Hum Genet (2009) 1.08
Transcript catalogs of human chromosome 21 and orthologous chimpanzee and mouse regions. Mamm Genome (2011) 1.08
A-kinase anchoring proteins as potential drug targets. Br J Pharmacol (2012) 1.07
Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome. PLoS Genet (2012) 1.06
Disruption of mouse Cenpj, a regulator of centriole biogenesis, phenocopies Seckel syndrome. PLoS Genet (2012) 1.06
A systems-biology approach to understanding the ciliopathy disorders. Genome Med (2011) 1.04
Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein. J Clin Endocrinol Metab (2012) 1.04
Centrosome positioning in vertebrate development. J Cell Sci (2012) 1.03
The molecular landscape of ASPM mutations in primary microcephaly. J Med Genet (2008) 1.03
Importance of the CEP215-pericentrin interaction for centrosome maturation during mitosis. PLoS One (2014) 1.03
OSVZ progenitors in the human cortex: an updated perspective on neurodevelopmental disease. Curr Opin Neurobiol (2012) 1.02
DISC1 genetics, biology and psychiatric illness. Front Biol (Beijing) (2013) 1.00
Short and tall stature: a new paradigm emerges. Nat Rev Endocrinol (2015) 0.99
An XRCC4 splice mutation associated with severe short stature, gonadal failure, and early-onset metabolic syndrome. J Clin Endocrinol Metab (2015) 0.99
Molecular and cellular basis of autosomal recessive primary microcephaly. Biomed Res Int (2014) 0.98
Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene. Clin Genet (2011) 0.98
The centrosomal protein pericentrin identified at the basal body complex of the connecting cilium in mouse photoreceptors. PLoS One (2011) 0.97
Mutations in the NHEJ component XRCC4 cause primordial dwarfism. Am J Hum Genet (2015) 0.97
Whole-genome sequencing in an autism multiplex family. Mol Autism (2013) 0.97
The ATR-Chk1 pathway plays a role in the generation of centrosome aberrations induced by Rad51C dysfunction. Nucleic Acids Res (2009) 0.96
Diseases associated with defective responses to DNA damage. Cold Spring Harb Perspect Biol (2012) 0.94
Globularity and language-readiness: generating new predictions by expanding the set of genes of interest. Front Psychol (2014) 0.94
Genetic defects in human pericentrin are associated with severe insulin resistance and diabetes. Diabetes (2011) 0.94
Genetics. Dwarfism, where pericentrin gains stature. Science (2008) 0.93
Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25. Am J Med Genet A (2011) 0.92
Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans. Eur J Hum Genet (2014) 0.92
Speriolin is a novel human and mouse sperm centrosome protein. Hum Reprod (2010) 0.92
Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism. Hum Genet (2014) 0.92
Lack of centrioles and primary cilia in STIL(-/-) mouse embryos. Cell Cycle (2014) 0.91
Haploinsufficiency of DNA Damage Response Genes and their Potential Influence in Human Genomic Disorders. Curr Genomics (2008) 0.91
Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication. Elife (2015) 0.90
The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes. J Med Genet (2015) 0.90
Genetic evaluation of short stature. J Clin Endocrinol Metab (2014) 0.90
A novel role for the centrosomal protein, pericentrin, in regulation of insulin secretory vesicle docking in mouse pancreatic beta-cells. PLoS One (2010) 0.89
Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum. Mol Syndromol (2010) 0.88
The leukemia-associated Rho guanine nucleotide exchange factor LARG is required for efficient replication stress signaling. Cell Cycle (2014) 0.88
Mutations in the TSGA14 gene in families with autism spectrum disorders. Am J Med Genet B Neuropsychiatr Genet (2011) 0.88
Mutation in WDR4 impairs tRNA m(7)G46 methylation and causes a distinct form of microcephalic primordial dwarfism. Genome Biol (2015) 0.87
A new horizon of moyamoya disease and associated health risks explored through RNF213. Environ Health Prev Med (2015) 0.86
TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism. Nat Genet (2015) 0.85
Drosophila pericentrin requires interaction with calmodulin for its function at centrosomes and neuronal basal bodies but not at sperm basal bodies. Mol Biol Cell (2014) 0.85
Angelman syndrome protein UBE3A interacts with primary microcephaly protein ASPM, localizes to centrosomes and regulates chromosome segregation. PLoS One (2011) 0.84
Immune response profiling identifies autoantibodies specific to Moyamoya patients. Orphanet J Rare Dis (2013) 0.84
CPAP promotes timely cilium disassembly to maintain neural progenitor pool. EMBO J (2016) 0.81
Cohen syndrome-associated protein COH1 physically and functionally interacts with the small GTPase RAB6 at the Golgi complex and directs neurite outgrowth. J Biol Chem (2014) 0.81
Disease severity in a mouse model of ataxia telangiectasia is modulated by the DNA damage checkpoint gene Hus1. Hum Mol Genet (2012) 0.80
Interphase centrosome organization by the PLP-Cnn scaffold is required for centrosome function. J Cell Biol (2015) 0.80
Genetics in endocrinology: genetic forms of severe insulin resistance: what endocrinologists should know. Eur J Endocrinol (2013) 0.80
Promoter hijack reveals pericentrin functions in mitosis and the DNA damage response. Cell Cycle (2013) 0.79
Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome. Eur J Pediatr (2014) 0.79
A pericentrin-related protein homolog in Aspergillus nidulans plays important roles in nucleus positioning and cell polarity by affecting microtubule organization. Eukaryot Cell (2012) 0.79
Medical management of moyamoya disease and recurrent stroke in an infant with Majewski osteodysplastic primordial dwarfism type II (MOPD II). Eur J Pediatr (2012) 0.78
Chromosome structure deficiencies in MCPH1 syndrome. Chromosoma (2015) 0.78
Evolutionary genomics of human intellectual disability. Evol Appl (2009) 0.78
Primordial dwarfism: overview of clinical and genetic aspects. Mol Genet Genomics (2015) 0.78
The AmAZI1ng roles of centriolar satellites during development. PLoS Genet (2013) 0.77
Inheritance of a Ring Chromosome 21 in a Couple Undergoing In Vitro Fertilization (IVF): A Case Report. Case Rep Genet (2011) 0.77
C-Nap1 mutation affects centriole cohesion and is associated with a Seckel-like syndrome in cattle. Nat Commun (2015) 0.77
The Drosophila Pericentrin-like-protein (PLP) cooperates with Cnn to maintain the integrity of the outer PCM. Biol Open (2015) 0.77
LINE-1 Mediated Insertion into Poc1a (Protein of Centriole 1 A) Causes Growth Insufficiency and Male Infertility in Mice. PLoS Genet (2015) 0.76
Truncation of POC1A associated with short stature and extreme insulin resistance. J Mol Endocrinol (2015) 0.76
Verification of SNPs Associated with Growth Traits in Two Populations of Farmed Atlantic Salmon. Int J Mol Sci (2015) 0.76
Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science (2004) 15.91
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. Nature (2011) 13.23
Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med (2012) 10.80
Diagnostic genome profiling in mental retardation. Am J Hum Genet (2005) 8.60
A de novo paradigm for mental retardation. Nat Genet (2010) 8.57
A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. Nat Genet (2010) 8.48
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet (2012) 8.42
Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat Genet (2013) 8.24
Psoriasis is associated with increased beta-defensin genomic copy number. Nat Genet (2007) 8.07
Genome-wide association analysis identifies 13 new risk loci for schizophrenia. Nat Genet (2013) 7.44
An SCN9A channelopathy causes congenital inability to experience pain. Nature (2006) 7.01
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet (2004) 6.90
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. Nat Genet (2006) 6.15
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nat Genet (2006) 5.92
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. Nat Genet (2009) 5.84
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Nat Genet (2010) 5.72
A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis. Nature (2006) 5.57
Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility. Nat Genet (2011) 5.56
Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. Nat Genet (2010) 5.48
Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities. Am J Hum Genet (2003) 5.43
HIV-1 restriction factor SAMHD1 is a deoxynucleoside triphosphate triphosphohydrolase. Nature (2011) 5.28
Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer. Nat Genet (2006) 5.12
A text-mining analysis of the human phenome. Eur J Hum Genet (2006) 4.98
Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. Am J Hum Genet (2006) 4.77
Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. Nat Genet (2006) 4.68
Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region. Nat Genet (2009) 4.61
ASPM is a major determinant of cerebral cortical size. Nat Genet (2002) 4.57
Common variants at 19p13 are associated with susceptibility to ovarian cancer. Nat Genet (2010) 4.51
Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1. Nat Genet (2008) 4.44
A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2. Nat Genet (2009) 4.38
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. Nat Genet (2013) 4.35
The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. Nat Genet (2005) 4.13
Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity. Nat Genet (2012) 4.13
Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss. Nat Genet (2011) 3.97
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. Nat Genet (2006) 3.97
A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24. Nat Genet (2010) 3.86
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet (2010) 3.82
Common variants at five new loci associated with early-onset inflammatory bowel disease. Nat Genet (2009) 3.82
De novo mutations in human genetic disease. Nat Rev Genet (2012) 3.81
Genome-wide association studies identify four ER negative-specific breast cancer risk loci. Nat Genet (2013) 3.81
Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism. Hum Mol Genet (2005) 3.76
SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype. Nat Genet (2011) 3.74
Identification of common variants associated with human hippocampal and intracranial volumes. Nat Genet (2012) 3.73
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nat Genet (2006) 3.69
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nat Genet (2010) 3.66
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nat Genet (2010) 3.60
Mutation of the RAD51C gene in a Fanconi anemia-like disorder. Nat Genet (2010) 3.57
Characterization of a recurrent 15q24 microdeletion syndrome. Hum Mol Genet (2007) 3.54
Early insulin therapy in very-low-birth-weight infants. N Engl J Med (2008) 3.51
TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction. Nat Genet (2008) 3.49
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Nat Genet (2007) 3.47
Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. Am J Hum Genet (2010) 3.47
GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer. Nat Genet (2013) 3.42
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. Am J Hum Genet (2007) 3.42
Genome-wide association study identifies a variant in HDAC9 associated with large vessel ischemic stroke. Nat Genet (2012) 3.40
SUN1 interacts with nuclear lamin A and cytoplasmic nesprins to provide a physical connection between the nuclear lamina and the cytoskeleton. Mol Cell Biol (2006) 3.39
A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer. Nat Genet (2011) 3.37
Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21. Hum Mol Genet (2010) 3.34
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet (2006) 3.26
CEP152 is a genome maintenance protein disrupted in Seckel syndrome. Nat Genet (2010) 3.25
Congenital glutamine deficiency with glutamine synthetase mutations. N Engl J Med (2005) 3.24
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. Nat Genet (2007) 3.22
Genome-wide association analysis identifies three new breast cancer susceptibility loci. Nat Genet (2012) 3.20
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. Nat Genet (2006) 3.19
A comprehensive linkage analysis for myocardial infarction and its related risk factors. Nat Genet (2002) 3.19
Dysfunctional Smad signaling contributes to abnormal smooth muscle cell proliferation in familial pulmonary arterial hypertension. Circ Res (2005) 3.16
Identification of microcephalin, a protein implicated in determining the size of the human brain. Am J Hum Genet (2002) 3.13
Transcription factor E2-2 is an essential and specific regulator of plasmacytoid dendritic cell development. Cell (2008) 3.12
Joubert Syndrome and related disorders. Orphanet J Rare Dis (2010) 3.10
High-throughput analysis of subtelomeric chromosome rearrangements by use of array-based comparative genomic hybridization. Am J Hum Genet (2002) 3.10
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet (2002) 3.09
Primary pulmonary hypertension is associated with reduced pulmonary vascular expression of type II bone morphogenetic protein receptor. Circulation (2002) 3.08
Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). Nat Genet (2011) 3.05
Central precocious puberty caused by mutations in the imprinted gene MKRN3. N Engl J Med (2013) 3.04
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nat Genet (2007) 3.02
Elevated levels of inflammatory cytokines predict survival in idiopathic and familial pulmonary arterial hypertension. Circulation (2010) 3.02
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron. Nat Genet (2006) 2.97
Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. Am J Hum Genet (2002) 2.90
Disease gene identification strategies for exome sequencing. Eur J Hum Genet (2012) 2.89
Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042. J Natl Cancer Inst (2009) 2.88
Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet (2007) 2.81
Transmembrane 6 superfamily member 2 gene variant disentangles nonalcoholic steatohepatitis from cardiovascular disease. Hepatology (2015) 2.81
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am J Hum Genet (2002) 2.81
Sequence variants in the genes for the interleukin-23 receptor (IL23R) and its ligand (IL12B) confer protection against psoriasis. Hum Genet (2007) 2.78
Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria. Am J Hum Genet (2004) 2.76
Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma. Nat Genet (2010) 2.75
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. Am J Hum Genet (2007) 2.74
Using whole-exome sequencing to identify inherited causes of autism. Neuron (2013) 2.74
Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile. Nat Genet (2011) 2.73
Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome. Am J Hum Genet (2007) 2.73
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. Nat Genet (2009) 2.72