Published in Nucleic Acids Res on November 29, 2011
Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing. Genome Med (2013) 3.90
Reference-free population genomics from next-generation transcriptome data and the vertebrate-invertebrate gap. PLoS Genet (2013) 1.91
DeNovoGear: de novo indel and point mutation discovery and phasing. Nat Methods (2013) 1.65
Comparison of somatic mutation calling methods in amplicon and whole exome sequence data. BMC Genomics (2014) 1.53
Variant detection sensitivity and biases in whole genome and exome sequencing. BMC Bioinformatics (2014) 1.52
Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement. Genome Med (2013) 1.00
Estimating exome genotyping accuracy by comparing to data from large scale sequencing projects. Genome Med (2013) 0.90
Transcriptome-wide investigation of genomic imprinting in chicken. Nucleic Acids Res (2014) 0.88
Reproducibility of Variant Calls in Replicate Next Generation Sequencing Experiments. PLoS One (2015) 0.78
A genomic selection component analysis characterizes migration-selection balance. Evolution (2015) 0.77
JACUSA: site-specific identification of RNA editing events from replicate sequencing data. BMC Bioinformatics (2017) 0.75
The Sequence Alignment/Map format and SAMtools. Bioinformatics (2009) 232.39
Mapping short DNA sequencing reads and calling variants using mapping quality scores. Genome Res (2008) 157.44
Accurate whole human genome sequencing using reversible terminator chemistry. Nature (2008) 90.20
SOAP: short oligonucleotide alignment program. Bioinformatics (2008) 68.13
Exome sequencing identifies the cause of a mendelian disorder. Nat Genet (2009) 32.06
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci U S A (2009) 15.09
The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes. Genome Res (2009) 14.90
Evaluation of next generation sequencing platforms for population targeted sequencing studies. Genome Biol (2009) 9.59
Carrier testing for severe childhood recessive diseases by next-generation sequencing. Sci Transl Med (2011) 8.20
Effect of read-mapping biases on detecting allele-specific expression from RNA-sequencing data. Bioinformatics (2009) 5.62
SNVMix: predicting single nucleotide variants from next-generation sequencing of tumors. Bioinformatics (2010) 4.02
Microindel detection in short-read sequence data. Bioinformatics (2010) 2.73
Strategies for exome and genome sequence data analysis in disease-gene discovery projects. Clin Genet (2011) 1.60
Nanopore Sequencing: Electrical Measurements of the Code of Life. IEEE Trans Nanotechnol (2010) 1.48
Technology-specific error signatures in the 1000 Genomes Project data. Hum Genet (2011) 1.27
The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease. Am J Hum Genet (2008) 8.78
Walking the interactome for prioritization of candidate disease genes. Am J Hum Genet (2008) 7.03
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data. Nucleic Acids Res (2013) 5.66
One vs three years of adjuvant imatinib for operable gastrointestinal stromal tumor: a randomized trial. JAMA (2012) 5.00
A high-resolution anatomical atlas of the transcriptome in the mouse embryo. PLoS Biol (2011) 4.84
Ontologizer 2.0--a multifunctional tool for GO term enrichment analysis and data exploration. Bioinformatics (2008) 4.74
Improved detection of overrepresentation of Gene-Ontology annotations with parent child analysis. Bioinformatics (2007) 4.32
Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A (2011) 4.27
The receptor tyrosine kinase Ror2 is involved in non-canonical Wnt5a/JNK signalling pathway. Genes Cells (2003) 4.11
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nat Genet (2010) 3.60
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet (2006) 3.26
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nat Genet (2007) 3.02
Clinical diagnostics in human genetics with semantic similarity searches in ontologies. Am J Hum Genet (2009) 3.01
Nanosize and vitality: TiO2 nanotube diameter directs cell fate. Nano Lett (2007) 2.82
Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1. Hum Mutat (2009) 2.81
Microindel detection in short-read sequence data. Bioinformatics (2010) 2.73
Tau fragmentation, aggregation and clearance: the dual role of lysosomal processing. Hum Mol Genet (2009) 2.69
GOing Bayesian: model-based gene set analysis of genome-scale data. Nucleic Acids Res (2010) 2.46
Prevalence of polyneuropathy in pre-diabetes and diabetes is associated with abdominal obesity and macroangiopathy: the MONICA/KORA Augsburg Surveys S2 and S3. Diabetes Care (2007) 2.30
Improved exome prioritization of disease genes through cross-species phenotype comparison. Genome Res (2013) 2.24
Efficient CRISPR/Cas9 genome editing with low off-target effects in zebrafish. Development (2013) 2.22
Entity/quality-based logical definitions for the human skeletal phenome using PATO. Conf Proc IEEE Eng Med Biol Soc (2009) 2.20
The fibrodysplasia ossificans progressiva R206H ACVR1 mutation activates BMP-independent chondrogenesis and zebrafish embryo ventralization. J Clin Invest (2009) 2.18
Introduction to machine learning for brain imaging. Neuroimage (2010) 2.13
Plant nitric oxide synthase: a never-ending story? Trends Plant Sci (2006) 2.12
Role of Runx genes in chondrocyte differentiation. Dev Biol (2002) 2.12
Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2. Am J Hum Genet (2009) 2.09
Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations. Hum Mutat (2008) 2.03
Neurophysiological predictor of SMR-based BCI performance. Neuroimage (2010) 1.99
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome. Nat Genet (2005) 1.98
Activity of eribulin mesylate in patients with soft-tissue sarcoma: a phase 2 study in four independent histological subtypes. Lancet Oncol (2011) 1.95
Comparison of PET, CT, and dual-modality PET/CT imaging for monitoring of imatinib (STI571) therapy in patients with gastrointestinal stromal tumors. J Nucl Med (2004) 1.91
Mutations in PYCR1 cause cutis laxa with progeroid features. Nat Genet (2009) 1.89
Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2. J Clin Invest (2005) 1.88
The generalised k-Truncated Suffix Tree for time-and space-efficient searches in multiple DNA or protein sequences. Int J Bioinform Res Appl (2008) 1.88
Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. Am J Hum Genet (2006) 1.84
Mutations in the RUNX2 gene in patients with cleidocranial dysplasia. Hum Mutat (2002) 1.81
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. J Med Genet (2006) 1.79
Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia. Nat Genet (2009) 1.75
A restricted spectrum of NRAS mutations causes Noonan syndrome. Nat Genet (2009) 1.71
A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders. J Clin Invest (2005) 1.68
Cardiovascular manifestations in men and women carrying a FBN1 mutation. Eur Heart J (2010) 1.68
Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations. Pediatrics (2009) 1.67
Whole-exome sequencing in adult ETP-ALL reveals a high rate of DNMT3A mutations. Blood (2013) 1.65
Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. Am J Hum Genet (2012) 1.65
Tissue Doppler imaging identifies myocardial dysfunction in adults with Marfan syndrome. Clin Cardiol (2007) 1.63
The other trinucleotide repeat: polyalanine expansion disorders. Curr Opin Genet Dev (2005) 1.62
A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT. Blood (2013) 1.61
TiO2 nanotube surfaces: 15 nm--an optimal length scale of surface topography for cell adhesion and differentiation. Small (2009) 1.60
Augmentation index relates to progression of aortic disease in adults with Marfan syndrome. Am J Hypertens (2009) 1.60
Epigenetic quantification of tumor-infiltrating T-lymphocytes. Epigenetics (2011) 1.57
Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3. Brain (2014) 1.55
Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. Proc Natl Acad Sci U S A (2003) 1.52
Genetic disorders of the skeleton: a developmental approach. Am J Hum Genet (2003) 1.52
Tumor vascularization and histopathologic regression of soft tissue sarcomas treated with isolated limb perfusion with TNF-α and melphalan. J Surg Oncol (2011) 1.51
Docetaxel and gemcitabine in the treatment of soft tissue sarcoma - a single-center experience. Onkologie (2008) 1.45
Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. Am J Hum Genet (2004) 1.45
Comprehensive expression analysis of all Wnt genes and their major secreted antagonists during mouse limb development and cartilage differentiation. Gene Expr Patterns (2009) 1.43
Dyschromatosis universalis hereditaria: familial case and ultrastructural skin investigation. Am J Med Genet A (2004) 1.43
Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement. Proc Natl Acad Sci U S A (2004) 1.42
Marfan syndrome: an update of genetics, medical and surgical management. Heart (2007) 1.41
MouseFinder: Candidate disease genes from mouse phenotype data. Hum Mutat (2012) 1.41
MicroRNAs differentially expressed in postnatal aortic development downregulate elastin via 3' UTR and coding-sequence binding sites. PLoS One (2011) 1.41
High-throughput polymorphism detection and genotyping in Brassica napus using next-generation RAD sequencing. BMC Genomics (2012) 1.41
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. Nat Genet (2008) 1.40
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival. Hum Mol Genet (2009) 1.40
Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome. J Exp Med (2013) 1.39
Mutations in WNT1 cause different forms of bone fragility. Am J Hum Genet (2013) 1.39
Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafish. Dis Model Mech (2012) 1.39
Ontological phenotype standards for neurogenetics. Hum Mutat (2012) 1.35
Deletion and point mutations of PTHLH cause brachydactyly type E. Am J Hum Genet (2010) 1.35
Amphiphilic TiO2 nanotube arrays: an actively controllable drug delivery system. J Am Chem Soc (2009) 1.35
Neuropathic pain in diabetes, prediabetes and normal glucose tolerance: the MONICA/KORA Augsburg Surveys S2 and S3. Pain Med (2009) 1.35
Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. Am J Hum Genet (2008) 1.34