Abstract Purpose For neurodevelopmental disorders (NDDs), etiological evaluation can be a
diagnostic odyssey involving numerous genetic tests, underscoring the need to develop a …

The majority of rare diseases affect children, most of whom have an underlying genetic
cause for their condition. However, making a molecular diagnosis with current technologies …

Neurodevelopmental disorders are the most prevalent chronic medical conditions
encountered in pediatric primary care. In addition to identifying appropriate descriptive …

Methods that enable rapid, sensitive and specific analyses of nucleic acid sequences have
positive effects on precise disease diagnostics and effective clinical treatments by providing …

Aberrant splicing is a major cause of rare diseases. However, its prediction from genome
sequence alone remains in most cases inconclusive. Recently, RNA sequencing has proven …

Genomic technologies, such as targeted, exome and short-read genome sequencing
approaches, have revolutionized the care of patients with rare genetic diseases. However …

Gene sequencing panels are a powerful diagnostic tool for many clinical presentations
associated with genetic disorders. Advances in DNA sequencing technology have made …

Abstract Background The advent of Next Generation Sequencing (NGS) has led to a
redefining of the genetic landscape of the epilepsies. Hundreds of single gene epilepsies …

摘要目前已经认识到了各种类型早期发病的非自身免疫性糖尿病是单基因糖尿病,
每种亚型都是在个体水平上发生的高度变异的单一基因缺陷所导致的. 单基因糖尿病 …

Intellectual disability (ID) has a prevalence of~ 2–3% in the general population, having a
large societal impact. The underlying cause of ID is largely of genetic origin; however …