[HTML][HTML] Regulation, functions and transmission of bivalent chromatin during mammalian development
TA Macrae, J Fothergill-Robinson… - … reviews Molecular cell …, 2023 - nature.com
Cells differentiate and progress through development guided by a dynamic chromatin
landscape that mediates gene expression programmes. During development, mammalian …
landscape that mediates gene expression programmes. During development, mammalian …
Getting to the cores of autism
The genetic architecture of autism spectrum disorder (ASD) is itself a diverse allelic
spectrum that consists of rare de novo or inherited variants in hundreds of genes and …
spectrum that consists of rare de novo or inherited variants in hundreds of genes and …
Genomic diagnosis of rare pediatric disease in the United Kingdom and Ireland
CF Wright, P Campbell, RY Eberhardt… - … England Journal of …, 2023 - Mass Medical Soc
Background Pediatric disorders include a range of highly penetrant, genetically
heterogeneous conditions amenable to genomewide diagnostic approaches. Finding a …
heterogeneous conditions amenable to genomewide diagnostic approaches. Finding a …
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes
To capture the full spectrum of genetic risk for autism, we performed a two-stage analysis of
rare de novo and inherited coding variants in 42,607 autism cases, including 35,130 new …
rare de novo and inherited coding variants in 42,607 autism cases, including 35,130 new …
[HTML][HTML] Highly sensitive spatial transcriptomics at near-cellular resolution with Slide-seqV2
Measurement of the location of molecules in tissues is essential for understanding tissue
formation and function. Previously, we developed Slide-seq, a technology that enables …
formation and function. Previously, we developed Slide-seq, a technology that enables …
[HTML][HTML] Evidence for 28 genetic disorders discovered by combining healthcare and research data
De novo mutations in protein-coding genes are a well-established cause of developmental
disorders. However, genes known to be associated with developmental disorders account …
disorders. However, genes known to be associated with developmental disorders account …
[HTML][HTML] Common genetic variants contribute to risk of rare severe neurodevelopmental disorders
There are thousands of rare human disorders that are caused by single deleterious, protein-
coding genetic variants. However, patients with the same genetic defect can have different …
coding genetic variants. However, patients with the same genetic defect can have different …
Lessons learned from large-scale, first-tier clinical exome sequencing in a highly consanguineous population
D Monies, M Abouelhoda, M Assoum… - The American Journal of …, 2019 - cell.com
We report the results of clinical exome sequencing (CES) on> 2,200 previously unpublished
Saudi families as a first-tier test. The predominance of autosomal-recessive causes allowed …
Saudi families as a first-tier test. The predominance of autosomal-recessive causes allowed …
Genetic evidence of gender difference in autism spectrum disorder supports the female-protective effect
Y Zhang, N Li, C Li, Z Zhang, H Teng, Y Wang… - Translational …, 2020 - nature.com
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with a male-to-
female prevalence of 4: 1. However, the genetic mechanisms underlying this gender …
female prevalence of 4: 1. However, the genetic mechanisms underlying this gender …
[HTML][HTML] Autism spectrum disorder and attention deficit hyperactivity disorder have a similar burden of rare protein-truncating variants
The exome sequences of approximately 8,000 children with autism spectrum disorder (ASD)
and/or attention deficit hyperactivity disorder (ADHD) and 5,000 controls were analyzed …
and/or attention deficit hyperactivity disorder (ADHD) and 5,000 controls were analyzed …