A rigorous in silico genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders by Afif Ben-Mahmoud (13913550)

“…<div><p>Genome-wide chromosomal microarray is extensively used to detect copy number variations (CNVs), which can diagnose microdeletion and microduplication syndromes. …”

A Complex Intrachromosomal Rearrangement Disrupting <i>IRF6 </i>in a Family with Popliteal Pterygium and Van der Woude Syndromes by Alya A. Al-Kurbi (18324927)

“…Here we report the case of a two-generation family where the index presented with popliteal pterygium syndrome while both the father and sister had clinical features of van der woude syndrome, but without any point mutations detected by re-sequencing of known gene panels or microarray testing. Using whole genome sequencing (WGS) followed by local de novo assembly, we discover and validate a copy-neutral, 429 kb complex intra-chromosomal rearrangement in the long arm of chromosome 1, disrupting the <i>IRF6</i> gene. …”

Atypical presentation of TRPV3 variant: Cerebral palsy and intellectual disability without dermatologic features of olmsted syndrome by Khoodoruth, Mohamed Adil Shah

“…Genome-wide oligonucleotide array-based comparative genomic hybridization analysis, performed using the Human Genome CGH Microarray kit, identified an intragenic deletion of approximately 13 kilobases (kb) in the TRPV3 gene at cytogenetic band 17p13.2. …”
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