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Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
Chromosomal microarray (CMA) is increasingly utilized for genetic testing of individuals with unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), or
Human telomeric protein TRF2 associates with genomic double-strand breaks as an early response to DNA damage
TLDR
This work shows that TRF2 associates with photo-induced DSBs in nontelomeric DNA in human fibroblasts within 2 s of irradiation and inhibits DSB-induced phosphorylation of ATM signaling targets, and implicates TRf2 in an initial stage of DSB recognition and processing that occurs before association of ATM with D SBs and activation of the ATM-dependent DSB response network.
SHANK1 Deletions in Males with Autism Spectrum Disorder.
TLDR
A hemizygous SHANK1 deletion is identified that segregates in a four-generation family in which male carriers--but not female carriers--have ASD with higher functioning, and the discovery of apparent reduced penetrance of ASD in females bearing inherited autosomal SHank1 deletions provides a possible contributory model for the male gender bias in autism.
The Bloom syndrome helicase BLM interacts with TRF2 in ALT cells and promotes telomeric DNA synthesis.
TLDR
The results identify BLM as the first protein found to affect telomeric DNA synthesis exclusively in human ALT cells and suggest that BLM facilitates recombination-driven amplification of telomeres in ALt cells.
Recurrent focal copy-number changes and loss of heterozygosity implicate two noncoding RNAs and one tumor suppressor gene at chromosome 3q13.31 in osteosarcoma.
TLDR
The findings identify osteo3q13.31 as a novel region of cooperatively acting tumor suppressor genes that may function as a unit, given significant correlation in their expression despite the great genetic distances between them.
Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder.
TLDR
Among a heterogeneous sample of children with ASD, the molecular diagnostic yields of CMA and WES were comparable, and the combined molecular diagnostic yield was higher in children with more complex morphological phenotypes in comparison with the children in the essential category.
PhenoTips: Patient Phenotyping Software for Clinical and Research Use
TLDR
By collecting, classifying, and analyzing phenotypic information during the patient encounter, PhenoTips allows for streamlining of clinic workflow, efficient data entry, improved diagnosis, standardization of collected patient phenotypes, and sharing of anonymized patient phenotype data for the study of rare disorders.
Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays.
TLDR
Consideration of a potential role for clinical microarray testing in schizophrenia, as is now the suggested standard of care for related developmental disorders like autism, is suggested.
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
TLDR
The reciprocal impact of these 16p11.2 copy-number variants indicates that severe obesity and being underweight could have mirror aetiologies, possibly through contrasting effects on energy balance.
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
TLDR
This report presents clinical characterization of four index cases who have been diagnosed with ASD and who possess rare inherited or de novo microdeletions at 14q24.3-31.1, a region that overlaps exons of the alpha and/or beta isoforms of NRXN3.
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