Published in Hum Mol Genet on January 01, 1999
High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping. Genome Res (2006) 10.45
Chromatin remodelling during development. Nature (2010) 5.86
Mutational mechanisms of Williams-Beuren syndrome deletions. Am J Hum Genet (2003) 3.76
A mechanosensitive transcriptional mechanism that controls angiogenesis. Nature (2009) 3.44
Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes. Am J Hum Genet (2006) 3.18
WSTF regulates the H2A.X DNA damage response via a novel tyrosine kinase activity. Nature (2008) 2.86
WSTF-ISWI chromatin remodeling complex targets heterochromatic replication foci. EMBO J (2002) 2.33
Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits. Nat Genet (2011) 2.27
Update on Wnt signaling in bone cell biology and bone disease. Gene (2011) 2.03
Generation and comparative analysis of approximately 3.3 Mb of mouse genomic sequence orthologous to the region of human chromosome 7q11.23 implicated in Williams syndrome. Genome Res (2002) 1.80
A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome--deletion region at 7q11.23. Am J Hum Genet (2000) 1.62
Connection between elastin haploinsufficiency and increased cell proliferation in patients with supravalvular aortic stenosis and Williams-Beuren syndrome. Am J Hum Genet (2002) 1.54
Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPA. Biomed Res Int (2015) 1.53
Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions. J Med Genet (2005) 1.48
Copy number variants at Williams-Beuren syndrome 7q11.23 region. Hum Genet (2010) 1.32
Uroplakin IIIb, a urothelial differentiation marker, dimerizes with uroplakin Ib as an early step of urothelial plaque assembly. J Cell Biol (2002) 1.31
Induced chromosome deletions cause hypersociability and other features of Williams-Beuren syndrome in mice. EMBO Mol Med (2009) 1.30
Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension. Am J Hum Genet (2006) 1.23
Comparison of TFII-I gene family members deleted in Williams-Beuren syndrome. Protein Sci (2004) 1.21
Isolation and characterization of BEN, a member of the TFII-I family of DNA-binding proteins containing distinct helix-loop-helix domains. Proc Natl Acad Sci U S A (2000) 1.17
Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange. J Med Genet (2008) 1.05
An SNP in an ultraconserved regulatory element affects Dlx5/Dlx6 regulation in the forebrain. Development (2010) 1.04
Association of GTF2i in the Williams-Beuren syndrome critical region with autism spectrum disorders. J Autism Dev Disord (2012) 1.01
An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient. Eur J Hum Genet (2010) 1.00
Evolutionary mechanisms shaping the genomic structure of the Williams-Beuren syndrome chromosomal region at human 7q11.23. Genome Res (2005) 1.00
Molecular dissection of DNA sequences and factors involved in slow muscle-specific transcription. Mol Cell Biol (2001) 0.98
Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase. Eur J Hum Genet (2008) 0.95
New aspects of the molecular constituents of tissue barriers. J Neural Transm (Vienna) (2010) 0.93
Autistic disorder in patients with Williams-Beuren syndrome: a reconsideration of the Williams-Beuren syndrome phenotype. PLoS One (2012) 0.93
Arterial hypertension during treatment with triptorelin in a child with Williams-Beuren syndrome. Pediatr Nephrol (2014) 0.88
Visual depth processing in Williams-Beuren syndrome. Exp Brain Res (2005) 0.86
A preliminary study of orbitofrontal activation and hypersociability in Williams Syndrome. J Neurodev Disord (2010) 0.85
Sulcal depth-position profile is a genetically mediated neuroscientific trait: description and characterization in the central sulcus. J Neurosci (2013) 0.80
Fibulin-4 regulates expression of the tropoelastin gene and consequent elastic-fibre formation by human fibroblasts. Biochem J (2009) 0.80
Functional and genetic characterization of two extremely rare cases of Williams-Beuren syndrome associated with chronic granulomatous disease. Eur J Hum Genet (2013) 0.79
Elastic-fiber pathologies: primary defects in assembly-and secondary disorders in transport and delivery. Am J Hum Genet (2000) 0.79
Endocrine dysfunctions in children with Williams-Beuren syndrome. Ann Pediatr Endocrinol Metab (2016) 0.79
Genetic effects on human cognition: lessons from the study of mental retardation syndromes. J Neurol Neurosurg Psychiatry (2002) 0.76
A Case Study of Early Development in Williams Syndrome: Implications for Early Intervention. Infants Young Child (1) 0.76
Williams syndrome as a model for elucidation of the pathway genes - the brain - cognitive functions: genetics and epigenetics. Acta Naturae (2014) 0.75
A genome-wide investigation into parent-of-origin effects in autism spectrum disorder identifies previously associated genes including SHANK3. Eur J Hum Genet (2016) 0.75
Refinement of the genomic structure of STX1A and mutation analysis in nondeletion Williams syndrome patients. Am J Med Genet (2002) 0.75
Genetic basis of cognitive disability. Dialogues Clin Neurosci (2001) 0.75
A rare association of central hypothyroidism and adrenal insufficiency in a boy with Williams-Beuren syndrome. Ann Pediatr Endocrinol Metab (2017) 0.75
CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits. Nat Commun (2017) 0.75