Published in Hum Mol Genet on July 07, 2015
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DIVAN: accurate identification of non-coding disease-specific risk variants using multi-omics profiles. Genome Biol (2016) 0.80
Extreme Trait Whole Genome Sequencing Identifies PTPRO as a Novel Candidate Gene in Emphysema with Severe Airflow Obstruction. Am J Respir Crit Care Med (2017) 0.78
iRegNet3D: three-dimensional integrated regulatory network for the genomic analysis of coding and non-coding disease mutations. Genome Biol (2017) 0.78
Buffering of Genetic Regulatory Networks in Drosophila melanogaster. Genetics (2016) 0.77
Analysis of Arabidopsis Accessions Hypersensitive to a Loss of Chloroplast Translation. Plant Physiol (2016) 0.76
Clinical genomics: from a truly personal genome viewpoint. Hum Genet (2016) 0.76
Identification of non-coding genetic variants in samples from hypoxemic respiratory disease patients that affect the transcriptional response to hypoxia. Nucleic Acids Res (2016) 0.75
Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA). J Vis Exp (2016) 0.75
The Identification of Microdeletion and Reciprocal Microduplication in 22q11.2 Using High-Resolution CMA Technology. Biomed Res Int (2016) 0.75
Association of genetic variation in the tachykinin receptor 3 locus with hot flashes and night sweats in the Women's Health Initiative Study. Menopause (2017) 0.75
Fetal de novo mutations and preterm birth. PLoS Genet (2017) 0.75
GAVIN: Gene-Aware Variant INterpretation for medical sequencing. Genome Biol (2017) 0.75
Novel Genetic Variants Associated with Child Refractory Esophageal Stricture with Food Allergy by Exome Sequencing. Nutrients (2017) 0.75
A GWAS follow-up of obesity-related SNPs in SYPL2 reveals sex-specific association with hip circumference. Obes Sci Pract (2016) 0.75
Shining a light on early stress responses and late-onset disease vulnerability. Proc Natl Acad Sci U S A (2017) 0.75
Autism genetics: opportunities and challenges for clinical translation. Nat Rev Genet (2017) 0.75
Identification of breast cancer associated variants that modulate transcription factor binding. PLoS Genet (2017) 0.75
Circular RNAs in Rat Models of Cardiovascular and Renal Diseases. Physiol Genomics (2017) 0.75
Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements. Am J Hum Genet (2017) 0.75
Mining the Unknown: Assigning Function to Noncoding Single Nucleotide Polymorphisms. Trends Genet (2016) 0.75
Variant Interpretation: Functional Assays to the Rescue. Am J Hum Genet (2017) 0.75
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An integrated map of genetic variation from 1,092 human genomes. Nature (2012) 59.82
Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med (2008) 19.71
Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med (2013) 15.85
A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet (2014) 14.56
Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med (2010) 13.57
The Human Gene Mutation Database: 2008 update. Genome Med (2009) 11.72
Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease. Nat Genet (2008) 9.52
A 3D map of the human genome at kilobase resolution reveals principles of chromatin looping. Cell (2014) 8.79
Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet (1998) 7.93
Copy number variation in human health, disease, and evolution. Annu Rev Genomics Hum Genet (2009) 7.64
Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genet (2005) 7.60
Genome-wide association analysis identifies 13 new risk loci for schizophrenia. Nat Genet (2013) 7.44
Recurrent 16p11.2 microdeletions in autism. Hum Mol Genet (2007) 6.75
Molecular findings among patients referred for clinical whole-exome sequencing. JAMA (2014) 6.46
A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization. Nat Genet (2006) 6.39
DNase I sensitivity QTLs are a major determinant of human expression variation. Nature (2012) 6.17
Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med (2012) 4.97
Clan genomics and the complex architecture of human disease. Cell (2011) 4.53
A new highly penetrant form of obesity due to deletions on chromosome 16p11.2. Nature (2010) 4.52
Massively parallel functional dissection of mammalian enhancers in vivo. Nat Biotechnol (2012) 4.51
Chromatin marks identify critical cell types for fine mapping complex trait variants. Nat Genet (2012) 3.67
Systematic dissection and optimization of inducible enhancers in human cells using a massively parallel reporter assay. Nat Biotechnol (2012) 3.52
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet (2006) 3.26
RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention. Neuron (2013) 3.25
Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions. Cell (2015) 3.10
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence. Nat Genet (2009) 3.03
On the immortality of television sets: "function" in the human genome according to the evolution-free gospel of ENCODE. Genome Biol Evol (2013) 3.00
Targeting RNA foci in iPSC-derived motor neurons from ALS patients with a C9ORF72 repeat expansion. Sci Transl Med (2013) 2.89
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome. Nat Genet (2012) 2.80
An erythroid enhancer of BCL11A subject to genetic variation determines fetal hemoglobin level. Science (2013) 2.71
Beyond GWASs: illuminating the dark road from association to function. Am J Hum Genet (2013) 2.67
Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis. Nat Genet (2013) 2.66
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature (2011) 2.59
Changes in insulin sensitivity and insulin release in relation to glycemia and glucose tolerance in 6,414 Finnish men. Diabetes (2009) 2.51
Robust 4C-seq data analysis to screen for regulatory DNA interactions. Nat Methods (2012) 2.42
Analysis of hundreds of cis-regulatory landscapes at high resolution in a single, high-throughput experiment. Nat Genet (2014) 2.42
Functional annotation of noncoding sequence variants. Nat Methods (2014) 2.41
High-throughput functional genomics using CRISPR-Cas9. Nat Rev Genet (2015) 2.35
Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect. Ann Neurol (2006) 2.25
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. Am J Hum Genet (2015) 2.22
Genomic disorders ten years on. Genome Med (2009) 1.81
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders. Nat Genet (2015) 1.76
Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia. Nat Genet (2009) 1.75
Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4. Hum Mol Genet (1996) 1.67
Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability. Am J Hum Genet (2010) 1.65
Genetic variation in human DNA replication timing. Cell (2014) 1.64
Karyotype versus microarray testing for genetic abnormalities after stillbirth. N Engl J Med (2012) 1.56
Genome-wide map of regulatory interactions in the human genome. Genome Res (2014) 1.52
A SOX9 duplication and familial 46,XX developmental testicular disorder. N Engl J Med (2011) 1.51
Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion. Clin Immunol (2008) 1.46
DNA replication timing. Cold Spring Harb Perspect Biol (2013) 1.38
Male-to-female sex reversal associated with an approximately 250 kb deletion upstream of NR0B1 (DAX1). Hum Genet (2007) 1.36
Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models. PLoS Biol (2010) 1.36
Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2). J Clin Invest (2006) 1.33
Deletions, Inversions, Duplications: Engineering of Structural Variants using CRISPR/Cas in Mice. Cell Rep (2015) 1.32
SOX9cre1, a cis-acting regulatory element located 1.1 Mb upstream of SOX9, mediates its enhancement through the SHH pathway. Hum Mol Genet (2007) 1.29
Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder. Genome Res (2012) 1.26
A role for noncoding variation in schizophrenia. Cell Rep (2014) 1.26
Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency. Genet Med (2005) 1.25
TBX6 null variants and a common hypomorphic allele in congenital scoliosis. N Engl J Med (2015) 1.15
HBS1L-MYB intergenic variants modulate fetal hemoglobin via long-range MYB enhancers. J Clin Invest (2014) 1.14
A familial 593-kb microdeletion of 16p11.2 associated with mental retardation and hemivertebrae. Eur J Med Genet (2009) 1.12
Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer. J Med Genet (2012) 1.12
Structural genomic variation and personalized medicine. N Engl J Med (2008) 1.11
The genetic and mechanistic basis for variation in gene regulation. PLoS Genet (2015) 1.10
Screening of the 1 Mb SOX9 5' control region by array CGH identifies a large deletion in a case of campomelic dysplasia with XY sex reversal. J Med Genet (2004) 1.08
Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families. Am J Hum Genet (2014) 1.08
A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and men. PLoS Genet (2012) 1.03
Identification of common genetic variants controlling transcript isoform variation in human whole blood. Nat Genet (2015) 1.02
Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease. Eur J Hum Genet (2009) 1.00
Structural variation mutagenesis of the human genome: Impact on disease and evolution. Environ Mol Mutagen (2015) 1.00
A rare functional noncoding variant at the GWAS-implicated MIR137/MIR2682 locus might confer risk to schizophrenia and bipolar disorder. Am J Hum Genet (2014) 0.99
TBX6, LHX1 and copy number variations in the complex genetics of Müllerian aplasia. Orphanet J Rare Dis (2013) 0.98
Gender differences relating to metabolic syndrome and proinflammation in Finnish subjects with elevated blood pressure. Mediators Inflamm (2009) 0.97
Enriched rearing improves behavioral responses of an animal model for CNV-based autistic-like traits. Hum Mol Genet (2012) 0.97
Restless legs syndrome-associated intronic common variant in Meis1 alters enhancer function in the developing telencephalon. Genome Res (2014) 0.94
Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome. Am J Hum Genet (2014) 0.94
Intra-family phenotypic heterogeneity of 16p11.2 deletion carriers in a three-generation Chinese family. Am J Med Genet B Neuropsychiatr Genet (2010) 0.90
An enhancer polymorphism at the cardiomyocyte intercalated disc protein NOS1AP locus is a major regulator of the QT interval. Am J Hum Genet (2014) 0.90
A common functional regulatory variant at a type 2 diabetes locus upregulates ARAP1 expression in the pancreatic beta cell. Am J Hum Genet (2014) 0.88
An APOA5 3' UTR variant associated with plasma triglycerides triggers APOA5 downregulation by creating a functional miR-485-5p binding site. Am J Hum Genet (2014) 0.86
Scoliosis and vertebral anomalies: additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement. Am J Med Genet A (2014) 0.82
Structural variation-associated expression changes are paralleled by chromatin architecture modifications. PLoS One (2013) 0.82
Distinct patterns of genetic variations in potential functional elements in long noncoding RNAs. Hum Mutat (2013) 0.81