Published in Hum Mutat on February 01, 2015
TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23). Elife (2015) 0.80
CPI-17 drives oncogenic Ras signaling in human melanomas via Ezrin-Radixin-Moesin family proteins. Oncotarget (2016) 0.79
Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly. Am J Hum Genet (2017) 0.75
Identification of loci associated with schizophrenia by genome-wide association and follow-up. Nat Genet (2008) 10.52
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
Psoriasis is associated with increased beta-defensin genomic copy number. Nat Genet (2007) 8.07
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet (2013) 8.02
Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science (2008) 4.04
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet (2010) 3.82
Specific aquaporins facilitate the diffusion of hydrogen peroxide across membranes. J Biol Chem (2006) 3.54
Combined analysis from eleven linkage studies of bipolar disorder provides strong evidence of susceptibility loci on chromosomes 6q and 8q. Am J Hum Genet (2005) 3.24
A comprehensive linkage analysis for myocardial infarction and its related risk factors. Nat Genet (2002) 3.19
Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder. Am J Hum Genet (2003) 3.02
Draft genome of the wheat A-genome progenitor Triticum urartu. Nature (2013) 2.86
HIV prevalence in China: integration of surveillance data and a systematic review. Lancet Infect Dis (2013) 2.82
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
Genome-wide association study identifies genetic variation in neurocan as a susceptibility factor for bipolar disorder. Am J Hum Genet (2011) 2.71
Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. Hum Mol Genet (2004) 2.67
Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis. Nat Genet (2010) 2.56
Hepatitis C virus infection in former commercial plasma/blood donors in rural Shanxi Province, China: the China Integrated Programs for Research on AIDS. J Infect Dis (2005) 2.47
CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila. Am J Hum Genet (2009) 2.41
Marijuana use and the risk of lung and upper aerodigestive tract cancers: results of a population-based case-control study. Cancer Epidemiol Biomarkers Prev (2006) 2.32
Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation. Am J Med Genet A (2006) 2.31
HIV and syphilis prevalence among men who have sex with men: a cross-sectional survey of 61 cities in China. Clin Infect Dis (2013) 2.24
Prediction of the phenotypic effects of non-synonymous single nucleotide polymorphisms using structural and evolutionary information. Bioinformatics (2005) 2.21
Tumorigenic transformation by CPI-17 through inhibition of a merlin phosphatase. Nature (2006) 2.15
Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability. Am J Hum Genet (2012) 2.12
Structural analysis of the protein phosphatase 1 docking motif: molecular description of binding specificities identifies interacting proteins. Chem Biol (2006) 2.08
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome). Nat Genet (2005) 2.04
Achalasia--a disease of unknown cause that is often diagnosed too late. Dtsch Arztebl Int (2012) 2.01
Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huët anomaly). Nat Genet (2002) 1.99
PolymiRTS Database: linking polymorphisms in microRNA target sites with complex traits. Nucleic Acids Res (2006) 1.96
Arabidopsis protein kinase PKS5 inhibits the plasma membrane H+ -ATPase by preventing interaction with 14-3-3 protein. Plant Cell (2007) 1.93
CTCFBSDB: a CTCF-binding site database for characterization of vertebrate genomic insulators. Nucleic Acids Res (2007) 1.89
nsSNPAnalyzer: identifying disease-associated nonsynonymous single nucleotide polymorphisms. Nucleic Acids Res (2005) 1.87
Meta-analysis confirms the LCE3C_LCE3B deletion as a risk factor for psoriasis in several ethnic groups and finds interaction with HLA-Cw6. J Invest Dermatol (2010) 1.82
Organization of the Caenorhabditis elegans small non-coding transcriptome: genomic features, biogenesis, and expression. Genome Res (2005) 1.77
Heterozygous NTF4 mutations impairing neurotrophin-4 signaling in patients with primary open-angle glaucoma. Am J Hum Genet (2009) 1.71
Association of LOXL1 common sequence variants in German and Italian patients with pseudoexfoliation syndrome and pseudoexfoliation glaucoma. Invest Ophthalmol Vis Sci (2008) 1.71
Genotype-phenotype correlations in Noonan syndrome. J Pediatr (2004) 1.70
Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. Am J Hum Genet (2011) 1.70
AMBER force-field parameters for phosphorylated amino acids in different protonation states: phosphoserine, phosphothreonine, phosphotyrosine, and phosphohistidine. J Mol Model (2005) 1.69
PolymiRTS Database 3.0: linking polymorphisms in microRNAs and their target sites with human diseases and biological pathways. Nucleic Acids Res (2013) 1.67
Mutations in microcephalin cause aberrant regulation of chromosome condensation. Am J Hum Genet (2004) 1.62
Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression. Hum Mutat (2010) 1.59
Common genetic variants associated with open-angle glaucoma. Hum Mol Genet (2011) 1.58
NEK1 mutations cause short-rib polydactyly syndrome type majewski. Am J Hum Genet (2011) 1.56
The interleukin-10 family of cytokines. Trends Immunol (2002) 1.54
Two-dimensional standing wave total internal reflection fluorescence microscopy: superresolution imaging of single molecular and biological specimens. Biophys J (2007) 1.53
Efficient RNA/Cas9-mediated genome editing in Xenopus tropicalis. Development (2014) 1.53
Phytoplasmas and their interactions with hosts. Trends Plant Sci (2005) 1.52
Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions. Am J Hum Genet (2007) 1.51
PolymiRTS Database 2.0: linking polymorphisms in microRNA target sites with human diseases and complex traits. Nucleic Acids Res (2011) 1.49
Inactivation of Wnt inhibitory factor-1 (WIF1) expression by epigenetic silencing is a common event in breast cancer. Carcinogenesis (2006) 1.47
Integrative genetic analysis of transcription modules: towards filling the gap between genetic loci and inherited traits. Hum Mol Genet (2005) 1.46
MAP4-dependent regulation of microtubule formation affects centrosome, cilia, and Golgi architecture as a central mechanism in growth regulation. Hum Mutat (2014) 1.45
Protein-protein interactions between sucrose transporters of different affinities colocalized in the same enucleate sieve element. Plant Cell (2002) 1.45
Inferring gene transcriptional modulatory relations: a genetical genomics approach. Hum Mol Genet (2005) 1.43
Epigenetic silencing of a Ca(2+)-regulated Ras GTPase-activating protein RASAL defines a new mechanism of Ras activation in human cancers. Proc Natl Acad Sci U S A (2007) 1.43
Hepatocyte growth factor-induced Ras activation requires ERM proteins linked to both CD44v6 and F-actin. Mol Biol Cell (2006) 1.43
No association between the serine racemase gene (SRR) and schizophrenia in a German case-control sample. Psychiatr Genet (2007) 1.42
7 Mb de novo deletion within 8q21 in a patient with distal arthrogryposis type 2B (DA2B). Eur J Med Genet (2011) 1.42
Ca2+-mediated remote control of reversible sieve tube occlusion in Vicia faba. J Exp Bot (2007) 1.42
Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator. Am J Hum Genet (2005) 1.40
Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome-like phenotype and hyperactivated MAPK signaling in humans and mice. J Clin Invest (2011) 1.39
The T-cell lymphokine interleukin-26 targets epithelial cells through the interleukin-20 receptor 1 and interleukin-10 receptor 2 chains. J Biol Chem (2004) 1.38
Genotype-correlated expression of lysyl oxidase-like 1 in ocular tissues of patients with pseudoexfoliation syndrome/glaucoma and normal patients. Am J Pathol (2008) 1.38
Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6). Eur Heart J (2011) 1.37
Genetic variation in the human androgen receptor gene is the major determinant of common early-onset androgenetic alopecia. Am J Hum Genet (2005) 1.35
GeneInfoViz: constructing and visualizing gene relation networks. In Silico Biol (2004) 1.35
Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability. Am J Hum Genet (2013) 1.34
Common genetic determinants of intraocular pressure and primary open-angle glaucoma. PLoS Genet (2012) 1.33
Genetic variants of the IL-23R pathway: association with psoriatic arthritis and psoriasis vulgaris, but no specific risk factor for arthritis. J Invest Dermatol (2008) 1.32
A locus on 2p12 containing the co-regulated MRPL19 and C2ORF3 genes is associated to dyslexia. Hum Mol Genet (2007) 1.32
A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP. Eur J Hum Genet (2003) 1.31
Achalasia: will genetic studies provide insights? Hum Genet (2010) 1.30
Listeria monocytogenes exploits ERM protein functions to efficiently spread from cell to cell. EMBO J (2005) 1.28
Dual selection pressure by drugs and HLA class I-restricted immune responses on human immunodeficiency virus type 1 protease. J Virol (2007) 1.28
Haplotype interaction analysis of unlinked regions. Genet Epidemiol (2005) 1.27
CMTM3, located at the critical tumor suppressor locus 16q22.1, is silenced by CpG methylation in carcinomas and inhibits tumor cell growth through inducing apoptosis. Cancer Res (2009) 1.27
Replication of LCE3C-LCE3B CNV as a risk factor for psoriasis and analysis of interaction with other genetic risk factors. J Invest Dermatol (2009) 1.26
The DTNBP1 (dysbindin) gene contributes to schizophrenia, depending on family history of the disease. Am J Hum Genet (2003) 1.26
Congenital nephrosis, mesangial sclerosis, and distinct eye abnormalities with microcoria: an autosomal recessive syndrome. Am J Med Genet A (2004) 1.26
Mouse gammadelta T cells are capable of expressing MHC class II molecules, and of functioning as antigen-presenting cells. J Neuroimmunol (2008) 1.25
Genome-wide association study identifies a new locus for coronary artery disease on chromosome 10p11.23. Eur Heart J (2010) 1.25
Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1. BMC Med Genet (2011) 1.24
The Arabidopsis P4-ATPase ALA3 localizes to the golgi and requires a beta-subunit to function in lipid translocation and secretory vesicle formation. Plant Cell (2008) 1.23
Anti-inflammatory role of IL-17 in experimental autoimmune uveitis. J Immunol (2009) 1.23
Genetic regulation of serum phytosterol levels and risk of coronary artery disease. Circ Cardiovasc Genet (2010) 1.23
Requirement and functional redundancy of Ib subgroup bHLH proteins for iron deficiency responses and uptake in Arabidopsis thaliana. Mol Plant (2012) 1.22
RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection. Nat Genet (2009) 1.22