More than a hundred genes have been identified that, when disrupted, impart large risk for
autism spectrum disorder (ASD). Current knowledge about the encoded proteins—although …

Starting with the launch of the Human Genome Project three decades ago, and continuing
after its completion in 2003, genomics has progressively come to have a central and …

Autism Spectrum Disorder (ASD) is one of the most prevalent neurodevelopmental
disorders, affecting an estimated 1 in 59 children. ASD is highly genetically heterogeneous …

Abstract The Human Developmental Cell Atlas (HDCA) initiative, which is part of the Human
Cell Atlas, aims to create a comprehensive reference map of cells during development. This …

Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of
disorders characterized by early-onset, often severe epileptic seizures and EEG …

Turner syndrome (TS) is a condition in females missing the second sex chromosome (45, X)
or parts thereof. It is considered a rare genetic condition and is associated with a wide range …

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

Detecting mutations from single DNA molecules is crucial in many fields but challenging.
Next-generation sequencing (NGS) affords tremendous throughput but cannot directly …

Despite the important role that monozygotic twins have played in genetics research, little is
known about their genomic differences. Here we show that monozygotic twins differ on …

Somatic mosaicism is a known cause of neurological disorders, including developmental
brain malformations and epilepsy. Brain mosaicism is traditionally attributed to post-zygotic …