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

Purpose To develop an evidence-based clinical practice guideline for the use of exome and
genome sequencing (ES/GS) in the care of pediatric patients with one or more congenital …

Purpose Exome and genome sequencing (ES/GS) are performed frequently in patients with
congenital anomalies, developmental delay, or intellectual disability (CA/DD/ID), but the …

Calcium/calmodulin-dependent protein kinase II (CAMK2) is one of the first proteins shown
to be essential for normal learning and synaptic plasticity in mice, but its requirement for …

Purpose and scope The aim of this position statement is to provide recommendations for
clinicians regarding the use of genetic and metabolic investigations for patients with …

In recent years the role of the mammalian target of rapamycin (mTOR) pathway has
emerged as crucial for normal cortical development. Therefore, it is not surprising that …

Purpose This study aimed to generate benchmark estimates for the cost, diagnostic yield,
and cost per positive diagnosis of diagnostic exome sequencing (ES) in heterogeneous …

Introduction. The mammalian target of rapamycin (mTOR) pathway has emerged as a key
player for proper neural network development, and it is involved in epileptogenesis triggered …

Since Garrod's first description of alkaptonuria in 1902, and newborn screening for
phenylketonuria introduced in the 1960s, P4 medicine (preventive, predictive, personalized …

Targeted whole-exome sequencing (WES) is a powerful diagnostic tool for a broad spectrum
of heterogeneous neurological disorders. Here, we aim to examine the impact on diagnosis …