Published in BMC Genomics on October 12, 2014
A missense mutation in TUBD1 is associated with high juvenile mortality in Braunvieh and Fleckvieh cattle. BMC Genomics (2016) 0.87
Transcriptome Analysis in Domesticated Species: Challenges and Strategies. Bioinform Biol Insights (2016) 0.75
Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails. J Hum Genet (2016) 0.75
UBE3B Is a Calmodulin-regulated, Mitochondrion-associated E3 Ubiquitin Ligase. J Biol Chem (2016) 0.75
The Sequence Alignment/Map format and SAMtools. Bioinformatics (2009) 232.39
PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet (2007) 209.92
Primer3 on the WWW for general users and for biologist programmers. Methods Mol Biol (2000) 128.08
Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics (2010) 52.01
Protein structure prediction on the Web: a case study using the Phyre server. Nat Protoc (2009) 32.64
A unified approach to genotype imputation and haplotype-phase inference for large data sets of trios and unrelated individuals. Am J Hum Genet (2009) 17.80
ESEfinder: A web resource to identify exonic splicing enhancers. Nucleic Acids Res (2003) 12.81
Apollo: a sequence annotation editor. Genome Biol (2002) 10.77
The TIGR Gene Indices: analysis of gene transcript sequences in highly sampled eukaryotic species. Nucleic Acids Res (2001) 8.44
A whole-genome assembly of the domestic cow, Bos taurus. Genome Biol (2009) 5.93
De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Nat Genet (1997) 4.65
An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers. Hum Mol Genet (2006) 4.56
Whole-genome sequencing of 234 bulls facilitates mapping of monogenic and complex traits in cattle. Nat Genet (2014) 4.45
Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia. Nat Genet (2010) 2.03
Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. Am J Hum Genet (2012) 1.96
Malformation syndromes caused by disorders of cholesterol synthesis. J Lipid Res (2010) 1.88
Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. Am J Hum Genet (2010) 1.53
The spectrum of mutations in UBE3A causing Angelman syndrome. Hum Mol Genet (1999) 1.21
Assessment of the genomic variation in a cattle population by re-sequencing of key animals at low to medium coverage. BMC Genomics (2013) 1.19
Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome. Am J Hum Genet (2012) 1.13
Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements. Am J Hum Genet (2012) 1.09
An unusual splice defect in the mitofusin 2 gene (MFN2) is associated with degenerative axonopathy in Tyrolean Grey cattle. PLoS One (2011) 1.05
Characterization of the human UBE3B gene: structure, expression, evolution, and alternative splicing. Genomics (2003) 0.98
Genome assembly has a major impact on gene content: a comparison of annotation in two Bos taurus assemblies. PLoS One (2011) 0.98
A novel mutation in the maternally imprinted PEG3 domain results in a loss of MIMT1 expression and causes abortions and stillbirths in cattle (Bos taurus). PLoS One (2010) 0.93
A splice site variant in the bovine RNF11 gene compromises growth and regulation of the inflammatory response. PLoS Genet (2012) 0.92
Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations. Hum Genet (2014) 0.88
A nonsense mutation in PLD4 is associated with a zinc deficiency-like syndrome in Fleckvieh cattle. BMC Genomics (2014) 0.87
Differential display and gene arrays to examine auditory plasticity. Hear Res (2000) 0.87
Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome. J Med Genet (2013) 0.87
Cloning of the oxidative stress-responsive genes in Caenorhabditis elegans. J Radiat Res (1999) 0.84
Genomic evaluation, breed identification, and discovery of a haplotype affecting fertility for Ayrshire dairy cattle. J Dairy Sci (2014) 0.77
E-cadherin regulates metastasis of pancreatic cancer in vivo and is suppressed by a SNAIL/HDAC1/HDAC2 repressor complex. Gastroenterology (2009) 2.35
Identification of genomic regions associated with phenotypic variation between dog breeds using selection mapping. PLoS Genet (2011) 2.24
A mutation in hairless dogs implicates FOXI3 in ectodermal development. Science (2008) 2.06
Association of a lysine-232/alanine polymorphism in a bovine gene encoding acyl-CoA:diacylglycerol acyltransferase (DGAT1) with variation at a quantitative trait locus for milk fat content. Proc Natl Acad Sci U S A (2002) 2.01
A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome. Nat Genet (2004) 1.88
Rituximab-associated progressive multifocal leukoencephalopathy in rheumatoid arthritis. Arch Neurol (2011) 1.83
Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. Gastroenterology (2005) 1.70
A porcine model of familial adenomatous polyposis. Gastroenterology (2012) 1.59
Methylprednisolone in combination with interferon beta-1a for relapsing-remitting multiple sclerosis (MECOMBIN study): a multicentre, double-blind, randomised, placebo-controlled, parallel-group trial. Lancet Neurol (2010) 1.56
Prior poliomyelitis-evidence of cytokine production in the central nervous system. J Neurol Sci (2002) 1.54
Whole genome sequencing of a single Bos taurus animal for single nucleotide polymorphism discovery. Genome Biol (2009) 1.51
Functional comparison of mouse slc26a6 anion exchanger with human SLC26A6 polypeptide variants: differences in anion selectivity, regulation, and electrogenicity. J Biol Chem (2004) 1.50
Genome-wide association mapping identifies multiple loci for a canine SLE-related disease complex. Nat Genet (2010) 1.49
Imputation of high-density genotypes in the Fleckvieh cattle population. Genet Sel Evol (2013) 1.48
Phosphorylation prevents polyglucosan transport in Lafora disease. Neurology (2012) 1.39
A major genetic component of BSE susceptibility. BMC Biol (2006) 1.37
Dissection of genetic factors modulating fetal growth in cattle indicates a substantial role of the non-SMC condensin I complex, subunit G (NCAPG) gene. Genetics (2009) 1.34
The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. Am J Hum Genet (2007) 1.32
Laforin preferentially binds the neurotoxic starch-like polyglucosans, which form in its absence in progressive myoclonus epilepsy. Hum Mol Genet (2004) 1.30
Crystal structure of Na+, K(+)-ATPase in the Na(+)-bound state. Science (2013) 1.28
Genome-wide analysis reveals selection for important traits in domestic horse breeds. PLoS Genet (2013) 1.26
Genome-wide association study identifies two major loci affecting calving ease and growth-related traits in cattle. Genetics (2010) 1.25
Assessment of the genomic variation in a cattle population by re-sequencing of key animals at low to medium coverage. BMC Genomics (2013) 1.19
Optical tweezers based force measurement system for quantitating binding interactions: system design and application for the study of bacterial adhesion. Biosens Bioelectron (2004) 1.19
A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers. Neurobiol Dis (2011) 1.19
Altered expression of MLH1, MSH2, and MSH6 in predisposition to hereditary nonpolyposis colorectal cancer. J Clin Oncol (2003) 1.18
Genetic diversity in the modern horse illustrated from genome-wide SNP data. PLoS One (2013) 1.18
An intronic insertion in KPL2 results in aberrant splicing and causes the immotile short-tail sperm defect in the pig. Proc Natl Acad Sci U S A (2006) 1.17
LUPA: a European initiative taking advantage of the canine genome architecture for unravelling complex disorders in both human and dogs. Vet J (2011) 1.15
Light-induced structural changes in a photosynthetic reaction center caught by Laue diffraction. Science (2010) 1.15
LGI2 truncation causes a remitting focal epilepsy in dogs. PLoS Genet (2011) 1.14
A powerful tool for genome analysis in maize: development and evaluation of the high density 600 k SNP genotyping array. BMC Genomics (2014) 1.12
An ADAMTS17 splice donor site mutation in dogs with primary lens luxation. Invest Ophthalmol Vis Sci (2010) 1.12
Peripheral inflammatory disease associated with centrally activated IL-1 system in humans and mice. Proc Natl Acad Sci U S A (2012) 1.11
High concurrent presence of disability in multiple sclerosis. Associations with perceived health. J Neurol (2007) 1.09
Evidence of central inflammation in fibromyalgia-increased cerebrospinal fluid interleukin-8 levels. J Neuroimmunol (2011) 1.09
Lafora progressive Myoclonus Epilepsy mutation database-EPM2A and NHLRC1 (EPM2B) genes. Hum Mutat (2005) 1.08
Identification and dissection of four major QTL affecting milk fat content in the German Holstein-Friesian population. PLoS One (2012) 1.07
Novel origins of copy number variation in the dog genome. Genome Biol (2012) 1.06
Assessment of canine BEST1 variations identifies new mutations and establishes an independent bestrophinopathy model (cmr3). Mol Vis (2010) 1.05
Clinical and genetic findings in 26 Italian patients with Lafora disease. Epilepsia (2006) 1.03
Variations in functioning and disability in multiple sclerosis. A two-year prospective study. J Neurol (2008) 1.03
Effects of ximelagatran, an oral direct thrombin inhibitor, r-hirudin and enoxaparin on thrombin generation and platelet activation in healthy male subjects. J Am Coll Cardiol (2003) 1.02
Time-resolved WAXS reveals accelerated conformational changes in iodoretinal-substituted proteorhodopsin. Biophys J (2011) 1.02
Genome-wide association study in Dachshund: identification of a major locus affecting intervertebral disc calcification. J Hered (2011) 1.01
ADAMTS17 mutation associated with primary lens luxation is widespread among breeds. Vet Ophthalmol (2011) 1.01
Early-onset Lafora body disease. Brain (2012) 1.01
Identification of a basolateral Cl-/HCO3- exchanger specific to gastric parietal cells. Am J Physiol Gastrointest Liver Physiol (2003) 1.01
Extent of linkage disequilibrium in the domestic cat, Felis silvestris catus, and its breeds. PLoS One (2013) 1.01
Common variants in human CRC genes as low-risk alleles. Eur J Cancer (2010) 1.00
Health-related quality of life in relapsing remitting multiple sclerosis patients during treatment with glatiramer acetate: a prospective, observational, international, multi-centre study. Health Qual Life Outcomes (2010) 1.00
Glycogen metabolism in tissues from a mouse model of Lafora disease. Arch Biochem Biophys (2006) 1.00
The role of means and goals in technology acceptance. A differentiated landscape of public perceptions of pharming. EMBO Rep (2009) 1.00
A SEL1L mutation links a canine progressive early-onset cerebellar ataxia to the endoplasmic reticulum-associated protein degradation (ERAD) machinery. PLoS Genet (2012) 0.99
MHC class II polymorphism is associated with a canine SLE-related disease complex. Immunogenetics (2009) 0.99
A COL11A2 mutation in Labrador retrievers with mild disproportionate dwarfism. PLoS One (2013) 0.99
Antibody cross-reactivity between myelin oligodendrocyte glycoprotein and the milk protein butyrophilin in multiple sclerosis. J Immunol (2004) 0.99
The mutation causing the black-and-tan pigmentation phenotype of Mangalitza pigs maps to the porcine ASIP locus but does not affect its coding sequence. Mamm Genome (2006) 0.98
Environmental effects on compulsive tail chasing in dogs. PLoS One (2012) 0.97
Is early detection of anastomotic leakage possible by intraperitoneal microdialysis and intraperitoneal cytokines after anterior resection of the rectum for cancer? Dis Colon Rectum (2007) 0.97
Combining evidence of selection with association analysis increases power to detect regions influencing complex traits in dairy cattle. BMC Genomics (2012) 0.96
Feline toxoplasmosis in Finland: cross-sectional epidemiological study and case series study. J Vet Diagn Invest (2012) 0.96
Mechanisms underlying ICU muscle wasting and effects of passive mechanical loading. Crit Care (2012) 0.95
DNA supercoiling enhances cooperativity and efficiency of an epigenetic switch. Proc Natl Acad Sci U S A (2013) 0.95
DGAT1 polymorphism in Bos indicus and Bos taurus cattle breeds. J Dairy Res (2004) 0.95
Unfolding and refolding properties of S pili on extraintestinal pathogenic Escherichia coli. Eur Biophys J (2009) 0.94
MYC directs transcription of MCL1 and eIF4E genes to control sensitivity of gastric cancer cells toward HDAC inhibitors. Cell Cycle (2012) 0.94
Expression of SPEF2 during mouse spermatogenesis and identification of IFT20 as an interacting protein. Biol Reprod (2009) 0.94
Evidence for multiple alleles at the DGAT1 locus better explains a quantitative trait locus with major effect on milk fat content in cattle. Genetics (2004) 0.94
A novel mutation in the maternally imprinted PEG3 domain results in a loss of MIMT1 expression and causes abortions and stillbirths in cattle (Bos taurus). PLoS One (2010) 0.93
Sacred disease secrets revealed: the genetics of human epilepsy. Hum Mol Genet (2005) 0.93
Modeling of the elongation and retraction of Escherichia coli P pili under strain by Monte Carlo simulations. Eur Biophys J (2007) 0.93
Factors influencing the efficiency of generating genetically engineered pigs by nuclear transfer: multi-factorial analysis of a large data set. BMC Biotechnol (2013) 0.93
A CNGB1 frameshift mutation in Papillon and Phalène dogs with progressive retinal atrophy. PLoS One (2013) 0.92
High levels of equol in organic skimmed Finnish cow milk. Mol Nutr Food Res (2007) 0.92
Fast uncoiling kinetics of F1C pili expressed by uropathogenic Escherichia coli are revealed on a single pilus level using force-measuring optical tweezers. Eur Biophys J (2010) 0.92
Identification of a novel idiopathic epilepsy locus in Belgian Shepherd dogs. PLoS One (2012) 0.91
Sacred disease secrets revealed: the genetics of human epilepsy. Hum Mol Genet (2005) 0.91
Genome-wide association study identifies a novel canine glaucoma locus. PLoS One (2013) 0.91
Evaluation of variant identification methods for whole genome sequencing data in dairy cattle. BMC Genomics (2014) 0.90
Helix-like biopolymers can act as dampers of force for bacteria in flows. Eur Biophys J (2012) 0.90
The new pig on the block: modelling cancer in pigs. Transgenic Res (2013) 0.89
Inactivation and inducible oncogenic mutation of p53 in gene targeted pigs. PLoS One (2012) 0.89