Autism genetics: opportunities and challenges for clinical translation

JAS Vorstman, JR Parr, D Moreno-De-Luca… - Nature Reviews …, 2017 - nature.com
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 …

Genetics of congenital anomalies of the kidney and urinary tract: the current state of play

VP Capone, W Morello, F Taroni, G Montini - International journal of …, 2017 - mdpi.com
Congenital anomalies of the kidney and urinary tract (CAKUT) are the most frequent form of
malformation at birth and represent the cause of 40–50% of pediatric and 7% of adult end …

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

CR Marshall, DP Howrigan, D Merico… - Nature …, 2017 - nature.com
Copy number variants (CNVs) have been strongly implicated in the genetic etiology of
schizophrenia (SCZ). However, genome-wide investigation of the contribution of CNV to risk …

Oxidative stress-driven parvalbumin interneuron impairment as a common mechanism in models of schizophrenia

P Steullet, JH Cabungcal, J Coyle, M Didriksen… - Molecular …, 2017 - nature.com
Parvalbumin inhibitory interneurons (PVIs) are crucial for maintaining proper
excitatory/inhibitory balance and high-frequency neuronal synchronization. Their activity …

Whole-genome resequencing of 292 pigeonpea accessions identifies genomic regions associated with domestication and agronomic traits

RK Varshney, RK Saxena, HD Upadhyaya, AW Khan… - Nature Genetics, 2017 - nature.com
Pigeonpea (Cajanus cajan), a tropical grain legume with low input requirements, is
expected to continue to have an important role in supplying food and nutritional security in …

Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications

AB Wilfert, A Sulovari, TN Turner, BP Coe, EE Eichler - Genome Medicine, 2017 - Springer
Next-generation sequencing (NGS) is now more accessible to clinicians and researchers.
As a result, our understanding of the genetics of neurodevelopmental disorders (NDDs) has …

Dosage sensitivity is a major determinant of human copy number variant pathogenicity

AM Rice, A McLysaght - Nature communications, 2017 - nature.com
Human copy number variants (CNVs) account for genome variation an order of magnitude
larger than single-nucleotide polymorphisms. Although much of this variation has no …

Dosage-sensitive genes in evolution and disease

AM Rice, A McLysaght - BMC biology, 2017 - Springer
For a subset of genes in our genome a change in gene dosage, by duplication or deletion,
causes a phenotypic effect. These dosage-sensitive genes may confer an advantage upon …

SZDB: a database for schizophrenia genetic research

Y Wu, YG Yao, XJ Luo - Schizophrenia bulletin, 2017 - academic.oup.com
Schizophrenia (SZ) is a debilitating brain disorder with a complex genetic architecture.
Genetic studies, especially recent genome-wide association studies (GWAS), have identified …

Copy number variation disorders

TH Shaikh - Current genetic medicine reports, 2017 - Springer
Abstract Purpose of Review Copy number variation (CNV) disorders arise from the dosage
imbalance of one or more gene (s), resulting from deletions, duplications, or other genomic …