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Severe expressive-language delay related to duplication of the Williams-Beuren locus.
TLDR
The results suggest that specific genes at 7q11.23 are exquisitely sensitive to dosage alterations that can influence human language and visuospatial capabilities. Expand
Coffin–Siris Syndrome and the BAF Complex: Genotype–Phenotype Study in 63 Patients
TLDR
The emerging phenotype–genotype correlation is that SMARCB1 patients have the most marked physical phenotype and severe cognitive and growth delay, and the variability in phenotype seems most marked in ARIDs1A and ARID1B patients. Expand
Detectable clonal mosaicism and its relationship to aging and cancer
TLDR
Large chromosomal abnormalities in a subset of clones in DNA obtained from blood or buccal samples underscore the time-dependent nature of somatic events in the etiology of cancer and potentially other late-onset diseases. Expand
Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis
TLDR
High acceptability, significantly higher detection rate and lower TAT, could justify the higher cost of CMA and favor targeted CMA as the best method for detection of chromosomal abnormalities in at-risk pregnancies after invasive prenatal sampling. Expand
New Population and Phylogenetic Features of the Internal Variation within Mitochondrial DNA Macro-Haplogroup R0
TLDR
It is found that the North Iberian Peninsula shows moderate levels of population stratification; for instance, haplogroups H1, H3 and H5a show frequency peaks in the Franco-Cantabrian region, declining from West towards the East and South Europe. Expand
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype–phenotype study
TLDR
Several typical facial features such as large dysplastic ears, arched eyebrows with sparse lateral third, blue sclerae, a flat nasal tip with a broad nasal root, and a thin upper and a full lower lip were observed more often in mutation positive patients. Expand
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome
TLDR
The findings broaden the phenotypic spectrum associated with 15q13.3 deletions and suggest that, in some individuals, deletion of 15q 13.3 is not sufficient to cause disease. Expand
Meta-analysis of heterogeneous Down Syndrome data reveals consistent genome-wide dosage effects related to neurological processes
TLDR
This study represents a comprehensive integrative analysis of heterogeneous data including genome-wide transcript levels in the domain of trisomy 21, and detected dosage effects build a resource for further studies of DS pathology and the development of new therapies. Expand
De novo copy number variants associated with intellectual disability have a paternal origin and age bias
TLDR
Rare de novo CNVs are increasingly being generated with advanced paternal age by replication based mechanisms during spermatogenesis, indicating that molecular mechanisms involved in the formation of rare de noVO CNVs may be dependent on the parent-of-origin. Expand
Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder
TLDR
This work supports the idea that the functional alteration of genes in related neuronal networks is involved in the etiology of the ASD phenotype and confirms a significant diagnostic yield for aCGH, which should probably be included in the diagnostic workup of idiopathic ASD. Expand
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