Published in Eur J Hum Genet on February 01, 2006
Germline rates of de novo meiotic deletions and duplications causing several genomic disorders. Nat Genet (2007) 4.59
Autism, language delay and mental retardation in a patient with 7q11 duplication. J Med Genet (2007) 1.86
Complex patterns of copy number variation at sites of segmental duplications: an important category of structural variation in the human genome. Hum Genet (2006) 1.33
Copy number variants at Williams-Beuren syndrome 7q11.23 region. Hum Genet (2010) 1.32
Inversion of the Williams syndrome region is a common polymorphism found more frequently in parents of children with Williams syndrome. Am J Med Genet C Semin Med Genet (2010) 1.22
Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies. Hum Genet (2007) 1.22
Rearrangements of the Williams-Beuren syndrome locus: molecular basis and implications for speech and language development. Expert Rev Mol Med (2007) 1.16
Phenotypic manifestations of copy number variation in chromosome 16p13.11. Eur J Hum Genet (2010) 1.06
CNV and nervous system diseases--what's new? Cytogenet Genome Res (2009) 1.04
Association of GTF2i in the Williams-Beuren syndrome critical region with autism spectrum disorders. J Autism Dev Disord (2012) 1.01
Copy number variations (CNVs) identified in Korean individuals. BMC Genomics (2008) 0.86
7q11.23 Duplication syndrome: Physical characteristics and natural history. Am J Med Genet A (2015) 0.84
Children with 7q11.23 duplication syndrome: psychological characteristics. Am J Med Genet A (2015) 0.80
Autism, language delay and mental retardation in a patient with 7q11 duplication. BMJ Case Rep (2009) 0.78
Williams-Beuren Syndrome: more or less? Segmental duplications and deletions in the Williams-Beuren syndrome region provide new insights into language development. Eur J Hum Genet (2006) 0.76
Disorders caused by chromosome abnormalities. Appl Clin Genet (2010) 0.76
The 7q11.23 Microduplication Syndrome: A Clinical Report with Review of Literature. J Pediatr Genet (2016) 0.75
Duplication of the Williams-Beuren critical region: case report and further delineation of the phenotypic spectrum. BMJ Case Rep (2009) 0.75
Duplication of the Williams-Beuren critical region: case report and further delineation of the phenotypic spectrum. BMJ Case Rep (2009) 0.75
Deep sequencing-based expression analysis shows major advances in robustness, resolution and inter-lab portability over five microarray platforms. Nucleic Acids Res (2008) 10.10
Local dystrophin restoration with antisense oligonucleotide PRO051. N Engl J Med (2007) 7.29
Systemic administration of PRO051 in Duchenne's muscular dystrophy. N Engl J Med (2011) 5.91
Complex SNP-related sequence variation in segmental genome duplications. Nat Genet (2004) 5.90
LOVD v.2.0: the next generation in gene variant databases. Hum Mutat (2011) 5.53
Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles. Am J Hum Genet (2008) 5.53
Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker. Hum Mutat (2008) 4.22
Locus Reference Genomic sequences: an improved basis for describing human DNA variants. Genome Med (2010) 4.19
Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy. Nat Genet (2003) 3.60
Sarcoma derived from cultured mesenchymal stem cells. Stem Cells (2006) 3.40
Chromosome segregation errors as a cause of DNA damage and structural chromosome aberrations. Science (2011) 3.29
Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance. Gastroenterology (2004) 2.90
LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach. Hum Mutat (2005) 2.86
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. Nat Genet (2012) 2.82
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
Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome. Nat Genet (2011) 2.74
Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations. Hum Mutat (2009) 2.67
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. Nat Genet (2012) 2.63
High-resolution melting analysis (HRMA): more than just sequence variant screening. Hum Mutat (2009) 2.59
Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories. Nat Biotechnol (2013) 2.53
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. Nat Genet (2010) 2.52
Lowering of Pkd1 expression is sufficient to cause polycystic kidney disease. Hum Mol Genet (2004) 2.47
Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere. Nat Genet (2002) 2.42
The value of data. Nat Genet (2011) 2.40
Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. Am J Hum Genet (2005) 2.40
Prorenin induces intracellular signaling in cardiomyocytes independently of angiotensin II. Hypertension (2006) 2.39
Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase. Am J Hum Genet (2006) 2.31
Planning the human variome project: the Spain report. Hum Mutat (2009) 2.22
Therapeutic antisense-induced exon skipping in cultured muscle cells from six different DMD patients. Hum Mol Genet (2003) 2.17
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling. Nat Genet (2013) 2.11
Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene. Am J Hum Genet (2008) 2.09
Deep sequencing to reveal new variants in pooled DNA samples. Hum Mutat (2009) 2.04
Kidney-specific inactivation of the Pkd1 gene induces rapid cyst formation in developing kidneys and a slow onset of disease in adult mice. Hum Mol Genet (2007) 2.03
Osteosarcoma originates from mesenchymal stem cells in consequence of aneuploidization and genomic loss of Cdkn2. J Pathol (2009) 1.96
Advances in Duchenne muscular dystrophy gene therapy. Nat Rev Genet (2003) 1.96
Two-color multiplex ligation-dependent probe amplification: detecting genomic rearrangements in hereditary multiple exostoses. Hum Mutat (2004) 1.94
Role of the transcription factor T (brachyury) in the pathogenesis of sporadic chordoma: a genetic and functional-based study. J Pathol (2010) 1.91
Recommendations of the 2006 Human Variome Project meeting. Nat Genet (2007) 1.90
Standardizing mutation nomenclature: why bother? Hum Mutat (2003) 1.80
Antisense-mediated exon skipping: a versatile tool with therapeutic and research applications. RNA (2007) 1.78
An immune response network associated with blood lipid levels. PLoS Genet (2010) 1.74
Targeted exon skipping as a potential gene correction therapy for Duchenne muscular dystrophy. Neuromuscul Disord (2002) 1.72
Frequency of new copy number variation in humans. Nat Genet (2005) 1.71
Copeptin, a surrogate marker for vasopressin, is associated with kidney function decline in subjects with autosomal dominant polycystic kidney disease. Nephrol Dial Transplant (2012) 1.67
In vivo comparison of 2'-O-methyl phosphorothioate and morpholino antisense oligonucleotides for Duchenne muscular dystrophy exon skipping. J Gene Med (2009) 1.66
Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. Hum Genet (2007) 1.64
Describing structural changes by extending HGVS sequence variation nomenclature. Hum Mutat (2011) 1.62
The carcinoma-stromal ratio of colon carcinoma is an independent factor for survival compared to lymph node status and tumor stage. Cell Oncol (2007) 1.61
Loss of p53 partially rescues embryonic development of Palb2 knockout mice but does not foster haploinsufficiency of Palb2 in tumour suppression. J Pathol (2011) 1.61
Guidelines for molecular karyotyping in constitutional genetic diagnosis. Eur J Hum Genet (2007) 1.56
Oncogenomic analysis of mycosis fungoides reveals major differences with Sezary syndrome. Blood (2008) 1.56
High-resolution whole-genome sequencing reveals that specific chromatin domains from most human chromosomes associate with nucleoli. Mol Biol Cell (2010) 1.56
Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization. Am J Hum Genet (2002) 1.55
Toxic tubular injury in kidneys from Pkd1-deletion mice accelerates cystogenesis accompanied by dysregulated planar cell polarity and canonical Wnt signaling pathways. Hum Mol Genet (2009) 1.53
Small N-terminal mutant huntingtin fragments, but not wild type, are mainly present in monomeric form: Implications for pathogenesis. Exp Neurol (2005) 1.53
Single molecule sequencing of free DNA from maternal plasma for noninvasive trisomy 21 detection. Clin Chem (2012) 1.52
Antisense-induced multiexon skipping for Duchenne muscular dystrophy makes more sense. Am J Hum Genet (2003) 1.52
Novel and highly recurrent chromosomal alterations in Sézary syndrome. Cancer Res (2008) 1.51
Standard mutation nomenclature in molecular diagnostics: practical and educational challenges. J Mol Diagn (2007) 1.50
Cutaneous anaplastic large cell lymphoma and peripheral T-cell lymphoma NOS show distinct chromosomal alterations and differential expression of chemokine receptors and apoptosis regulators. J Invest Dermatol (2009) 1.48
Guidelines for antisense oligonucleotide design and insight into splice-modulating mechanisms. Mol Ther (2008) 1.48
Targeted exon skipping in transgenic hDMD mice: A model for direct preclinical screening of human-specific antisense oligonucleotides. Mol Ther (2004) 1.46
Fluorescent labelling of cRNA for microarray applications. Nucleic Acids Res (2003) 1.46
AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration. FASEB J (2006) 1.44
Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation--clinical report and review. Am J Med Genet A (2006) 1.40
Real-time monitoring of rolling-circle amplification using a modified molecular beacon design. Nucleic Acids Res (2002) 1.39
New methods for next generation sequencing based microRNA expression profiling. BMC Genomics (2010) 1.38
Exploring the frontiers of therapeutic exon skipping for Duchenne muscular dystrophy by double targeting within one or multiple exons. Mol Ther (2006) 1.38
The role of EXT1 in nonhereditary osteochondroma: identification of homozygous deletions. J Natl Cancer Inst (2007) 1.37
Phage display screening without repetitious selection rounds. Anal Biochem (2011) 1.36
Can subtle changes in gene expression be consistently detected with different microarray platforms? BMC Genomics (2008) 1.36
A common reference for cDNA microarray hybridizations. Nucleic Acids Res (2002) 1.35
Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome). Gastroenterology (2006) 1.34
Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement. Nat Genet (2012) 1.34