Genomics, convergent neuroscience and progress in understanding autism spectrum disorder
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�…
autism spectrum disorder (ASD). Current knowledge about the encoded proteins—although�…
[HTML][HTML] Genetic causes and modifiers of autism spectrum disorder
L Rylaarsdam, A Guemez-Gamboa�- Frontiers in cellular�…, 2019 - frontiersin.org
Autism Spectrum Disorder (ASD) is one of the most prevalent neurodevelopmental
disorders, affecting an estimated 1 in 59 children. ASD is highly genetically heterogeneous�…
disorders, affecting an estimated 1 in 59 children. ASD is highly genetically heterogeneous�…
Strategic vision for improving human health at The Forefront of Genomics
ED Green, C Gunter, LG Biesecker, V Di Francesco…�- Nature, 2020 - nature.com
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�…
after its completion in 2003, genomics has progressively come to have a central and�…
[HTML][HTML] A roadmap for the human developmental cell atlas
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�…
Cell Atlas, aims to create a comprehensive reference map of cells during development. This�…
Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum
Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of
disorders characterized by early-onset, often severe epileptic seizures and EEG�…
disorders characterized by early-onset, often severe epileptic seizures and EEG�…
The changing face of Turner syndrome
CH Gravholt, M Viuff, J Just, K Sandahl…�- Endocrine�…, 2023 - academic.oup.com
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�…
or parts thereof. It is considered a rare genetic condition and is associated with a wide range�…
[HTML][HTML] Genetic testing in neurodevelopmental disorders
Neurodevelopmental disorders are the most prevalent chronic medical conditions
encountered in pediatric primary care. In addition to identifying appropriate descriptive�…
encountered in pediatric primary care. In addition to identifying appropriate descriptive�…
[HTML][HTML] Single duplex DNA sequencing with CODEC detects mutations with high sensitivity
Detecting mutations from single DNA molecules is crucial in many fields but challenging.
Next-generation sequencing (NGS) affords tremendous throughput but cannot directly�…
Next-generation sequencing (NGS) affords tremendous throughput but cannot directly�…
Differences between germline genomes of monozygotic twins
H Jonsson, E Magnusdottir, HP Eggertsson…�- Nature Genetics, 2021 - nature.com
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�…
known about their genomic differences. Here we show that monozygotic twins differ on�…
Post-zygotic rescue of meiotic errors causes brain mosaicism and focal epilepsy
Somatic mosaicism is a known cause of neurological disorders, including developmental
brain malformations and epilepsy. Brain mosaicism is traditionally attributed to post-zygotic�…
brain malformations and epilepsy. Brain mosaicism is traditionally attributed to post-zygotic�…