Genetic basis for congenital heart disease: revisited: a scientific statement from the American Heart Association
This review provides an updated summary of the state of our knowledge of the genetic
contributions to the pathogenesis of congenital heart disease. Since 2007, when the initial …
contributions to the pathogenesis of congenital heart disease. Since 2007, when the initial …
Autism genetics: opportunities and challenges for clinical translation
Genetic studies have revealed the involvement of hundreds of gene variants in autism. Their
risk effects are highly variable, and they are frequently related to other conditions besides …
risk effects are highly variable, and they are frequently related to other conditions besides …
[HTML][HTML] Human-specific NOTCH2NL genes affect notch signaling and cortical neurogenesis
Genetic changes causing brain size expansion in human evolution have remained elusive.
Notch signaling is essential for radial glia stem cell proliferation and is a determinant of …
Notch signaling is essential for radial glia stem cell proliferation and is a determinant of …
The ASD Living Biology: from cell proliferation to clinical phenotype
Autism spectrum disorder (ASD) has captured the attention of scientists, clinicians and the
lay public because of its uncertain origins and striking and unexplained clinical …
lay public because of its uncertain origins and striking and unexplained clinical …
Autism spectrum disorder and schizophrenia: An updated conceptual review
Autism spectrum disorder (ASD) and schizophrenia (SCZ) are separate disorders, with
distinct clinical profiles and natural histories. ASD, typically diagnosed in childhood, is …
distinct clinical profiles and natural histories. ASD, typically diagnosed in childhood, is …
The emerging clinical neuroscience of autism spectrum disorder: a review
Importance Autism spectrum disorder (ASD) is a highly prevalent disorder, and community
psychiatrists are likely to treat many individuals with ASD during their clinical practice. This …
psychiatrists are likely to treat many individuals with ASD during their clinical practice. This …
A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 associated with intellectual disability
GC-rich tandem repeat expansions (TREs) are often associated with DNA methylation, gene
silencing and folate-sensitive fragile sites, and underlie several congenital and late-onset …
silencing and folate-sensitive fragile sites, and underlie several congenital and late-onset …
The genetic basis of congenital anomalies of the kidney and urinary tract
M Kagan, O Pleniceanu, A Vivante - Pediatric Nephrology, 2022 - Springer
During the past decades, remarkable progress has been made in our understanding of the
molecular basis of kidney diseases, as well as in the ability to pinpoint disease-causing …
molecular basis of kidney diseases, as well as in the ability to pinpoint disease-causing …
[HTML][HTML] The individual and global impact of copy-number variants on complex human traits
The impact of copy-number variations (CNVs) on complex human traits remains
understudied. We called CNVs in 331,522 UK Biobank participants and performed genome …
understudied. We called CNVs in 331,522 UK Biobank participants and performed genome …
Effect sizes of deletions and duplications on autism risk across the genome
E Douard, A Zeribi, C Schramm… - American Journal of …, 2021 - Am Psychiatric Assoc
Objective: Deleterious copy number variants (CNVs) are identified in up to 20% of
individuals with autism. However, levels of autism risk conferred by most rare CNVs remain …
individuals with autism. However, levels of autism risk conferred by most rare CNVs remain …