Neurodevelopmental disorders can be caused by many different genetic abnormalities that
are individually rare but collectively common. Specific genetic causes, including certain copy …

Cerebral palsy—the most common physical disability of childhood—is a clinical diagnosis
encompassing a heterogeneous group of neurodevelopmental disorders that cause …

Neurodevelopmental disorders such as intellectual disability, autism spectrum disorder and
schizophrenia lack precise boundaries in their clinical definitions, epidemiology, genetics …

Purpose: Copy number variants have emerged as a major cause of human disease such as
autism and intellectual disabilities. Because copy number variants are common in normal …

Background Deletion of the recurrent ~600 kb BP4-BP5 chromosomal region 16p11.2 has
been associated with a wide range of neurodevelopmental outcomes. Methods To clarify the …

… We also thank D Moreno-De-Luca and EB Kaminsky for critical comments of this manuscript,
D Kunig and L Wang for expert technical assistance, and C Strauss for editorial assistance. …

Congenital hydrocephalus (CH), characterized by enlarged brain ventricles, is considered a
disease of excessive cerebrospinal fluid (CSF) accumulation and thereby treated with …

Importance Most disorders caused by copy number variants (CNVs) display significant clinical
variability, often referred to as incomplete penetrance and variable expressivity. Genetic …

Hydrocephalus, characterized by cerebral ventricular dilatation, is routinely attributed to
primary defects in cerebrospinal fluid (CSF) homeostasis. This fosters CSF shunting as the …

High throughput sequencing is discovering many likely causative genetic variants in individuals
with cerebral palsy. Some investigators have suggested that this changes the clinical …