Identifying genes and variants contributing to rare disease phenotypes and Mendelian
conditions informs biology and medicine, yet potential phenotypic consequences for …

Background Human genome sequencing has transformed our understanding of genomic
variation and its relevance to health and disease, and is now starting to enter clinical …

Despite three decades of successful, predominantly phenotype-driven discovery of the
genetic causes of monogenic disorders, up to half of children with severe developmental …

Purpose Given the rapid pace of discovery in rare disease genomics, it is likely that
improvements in diagnostic yield can be made by systematically reanalyzing previously …

Introduction: For decades, conventional karyotyping analysis has been the gold standard for
detecting chromosomal abnormalities during prenatal diagnosis. With the development of …

Clinicians are encouraged to document the reasons for the use of a particular procedure or
test, whether or not it is in conformance with this statement. Clinicians also are advised to …

Meiotic nondisjunction and resulting aneuploidy can lead to severe health consequences in
humans. Aneuploidy rescue can restore euploidy but may result in uniparental disomy …

Genomic testing, including single-nucleotide variation (formerly single-nucleotide
polymorphism)–based chromosomal microarray and exome and genome sequencing, can …

Purpose Uniparental disomy (UPD) is the rare occurrence of two homologous chromosomes
originating from the same parent and is typically identified by marker analysis or single …

The discovery of cancer-predisposing syndromes (CPSs) using next-generation sequencing
(NGS) technologies is of increasing importance in pediatric oncology with regard to …