[HTML][HTML] Clinical application of genome and exome sequencing as a diagnostic tool for pediatric patients: a scoping review of the literature
Purpose Availability of clinical genomic sequencing (CGS) has generated questions about
the value of genome and exome sequencing as a diagnostic tool. Analysis of reported CGS …
the value of genome and exome sequencing as a diagnostic tool. Analysis of reported CGS …
Historical and clinical perspectives on chromosomal translocations
ES Wilch, CC Morton - Chromosome translocation, 2018 - Springer
Chromosomal translocations, rearrangements involving the exchange of segments between
chromosomes, were documented in humans in 1959. The first accurately reported clinical …
chromosomes, were documented in humans in 1959. The first accurately reported clinical …
[HTML][HTML] Clinical application of whole-exome sequencing across clinical indications
K Retterer, J Juusola, MT Cho, P Vitazka, F Millan… - Genetics in …, 2016 - nature.com
Purpose: We report the diagnostic yield of whole-exome sequencing (WES) in 3,040
consecutive cases at a single clinical laboratory. Methods: WES was performed for many …
consecutive cases at a single clinical laboratory. Methods: WES was performed for many …
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their
characterization has largely been restricted to cytogenetic resolution. We explored the …
characterization has largely been restricted to cytogenetic resolution. We explored the …
[HTML][HTML] Heterozygous truncating variants in POMP escape nonsense-mediated decay and cause a unique immune dysregulatory syndrome
The proteasome processes proteins to facilitate immune recognition and host defense.
When inherently defective, it can lead to aberrant immunity resulting in a dysregulated …
When inherently defective, it can lead to aberrant immunity resulting in a dysregulated …
[HTML][HTML] Novel genetic causes for cerebral visual impairment
DGM Bosch, FN Boonstra, N de Leeuw… - European Journal of …, 2016 - nature.com
Cerebral visual impairment (CVI) is a major cause of low vision in children due to
impairment in projection and/or interpretation of the visual input in the brain. Although …
impairment in projection and/or interpretation of the visual input in the brain. Although …
Phenotypic expansion illuminates multilocus pathogenic variation
Purpose Multilocus variation—pathogenic variants in two or more disease genes—can
potentially explain the underlying genetic basis for apparent phenotypic expansion in cases …
potentially explain the underlying genetic basis for apparent phenotypic expansion in cases …
Diagnostic value of exome and whole genome sequencing in craniosynostosis
KA Miller, SRF Twigg, SJ McGowan… - Journal of medical …, 2017 - jmg.bmj.com
Background Craniosynostosis, the premature fusion of one or more cranial sutures, occurs
in∼ 1 in 2250 births, either in isolation or as part of a syndrome. Mutations in at least 57 …
in∼ 1 in 2250 births, either in isolation or as part of a syndrome. Mutations in at least 57 …
[HTML][HTML] DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome
Robinow syndrome is a genetically heterogeneous disorder characterized by mesomelic
limb shortening, genital hypoplasia, and distinctive facial features and for which both …
limb shortening, genital hypoplasia, and distinctive facial features and for which both …
[HTML][HTML] Redefining the etiologic landscape of cerebellar malformations
KA Aldinger, AE Timms, Z Thomson, GM Mirzaa… - The American Journal of …, 2019 - cell.com
Cerebellar malformations are diverse congenital anomalies frequently associated with
developmental disability. Although genetic and prenatal non-genetic causes have been …
developmental disability. Although genetic and prenatal non-genetic causes have been …