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Variation and selection on codon usage bias across an entire subphylum
(PLOS Genetics, 2019-07)
Variation in synonymous codon usage is abundant across multiple levels of organization: between codons of an amino acid, between genes in a genome, and between genomes of different species. It is now well understood that ...
A gene co-expression network-based analysis of multiple brain tissues reveals novel genes and molecular pathways underlying major depression
(PLOS Genetics, 2019-07)
Major depression is a common and severe psychiatric disorder with a highly polygenic genetic architecture. Genome-wide association studies have successfully identified multiple independent genetic loci that harbour variants ...
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies
(Genetics Medicine, 2019-08)
Purpose: Haploinsufficiency of USP7, located at chromosome 16p13.2, has recently been reported in seven individuals with neurodevelopmental phenotypes, including developmental delay/intellectual disability (DD/ID), autism ...
SLC12A ion transporter mutations in sporadic and familial human congenital hydrocephalus
(Molecular Genetics & Genomic Medicine, 2019-09)
Background Congenital hydrocephalus (CH) is a highly morbid disease that features enlarged brain ventricles and impaired cerebrospinal fluid homeostasis. Although early linkage or targeted sequencing studies in large ...
Signatures of Recent Positive Selection in Enhancers Across 41 Human Tissues
(G3-GENES Genomes Genetics, 2019-08)
Evolutionary changes in enhancers are widely associated with variation in human traits and diseases. However, studies comprehensively quantifying levels of selection on enhancers at multiple evolutionary periods during ...
IGNITE network: Response of patients to genomic medicine interventions
(MOLECULAR GENETICS & GENOMIC MEDICINE, 2019-05)
Background The IGNITE network funds six genomic medicine projects. Though interventions varied, we hypothesized that synergies across projects could be leveraged to better understand the participant experiences with genomic ...
Actin assembly and non-muscle myosin activity drive dendrite retraction in an UNC-6/Netrin dependent self-avoidance response
(PLOS GENETICS, 2019-06)
Dendrite growth is constrained by a self-avoidance response that induces retraction but the downstream pathways that balance these opposing mechanisms are unknown. We have proposed that the diffusible cue UNC-6(Netrin) is ...
Two-By-One model of cytoplasmic incompatibility: Synthetic recapitulation by transgenic expression of cifA and cifB in Drosophila
(PLOS Genetics, 2019-06)
Wolbachia are maternally inherited bacteria that infect arthropod species worldwide and are deployed in vector control to curb arboviral spread using cytoplasmic incompatibility (CI). CI kills embryos when an infected male ...
Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice-site and Charcot-Marie-Tooth phenotype with early onset symptoms
(Molecular Genetics & Genomic Medicine, 2019-06)
BackgroundRare variants (RV) in immunoglobulin mu-binding protein 2 (IGHMBP2) [OMIM 600502] can cause an autosomal recessive type of Charcot-Marie-Tooth (CMT) disease [OMIM 616155], an inherited peripheral neuropathy. Over ...
A Trans-Ethnic Genome-Wide Association Study of Uterine Fibroids
(Frontiers in Genetics, 2019-06-12)
Uterine fibroids affect up to 77% of women by menopause and account for up to $34 billion in healthcare costs each year. Although fibroid risk is heritable, genetic risk for fibroids is not well understood. We conducted a ...