The practice of genomic medicine stands to revolutionize our approach to medical care, and
to realize this goal will require discovery of the relationship between rare variation at each of …

Neurodevelopmental disorders (NDDs) are clinically and genetically heterogenous; many
such disorders are secondary to perturbation in brain development and/or function. The …

Background Since different types of genetic variants, from single nucleotide variants (SNVs)
to large chromosomal rearrangements, underlie intellectual disability, we evaluated the use …

Introduction The human genome contains the instructions for the development and
biological homeostasis of the human organism and the genetic transmission of traits …

Background Developmental disorders (DDs) are early onset disorders affecting 5%–10% of
children worldwide. Chromosomal microarray analysis detecting CNVs is currently …

Whole genome sequencing (WGS) is a powerful tool for postnatal genetic diagnosis, but
relevant clinical studies in the field of prenatal diagnosis are limited. The present study …

Clinical characterization of a patient phenotype has been the quintessential approach for
elucidating a differential diagnosis and a hypothesis to explore a potential clinical diagnosis …

Homozygous duplications contribute to genetic disease by altering gene dosage or
disrupting gene regulation and can be more deleterious to organismal biology than …

Purpose Improved resolution of molecular diagnostic technologies enabled detection of
smaller sized exonic level copy-number variants (CNVs). The contribution of CNVs to …

Intellectual Disability (ID) is a neurodevelopmental disorder that affects approximately 3% of
children and adolescents worldwide. It is a heterogeneous and multifactorial clinical …