Search Results - "Ross, Elizabeth M."
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Unlocking the genetic complexity of congenital hydrocephalus
Published in Nature medicine (01-11-2020)“…Genome sequencing of patients with sporadic congenital hydrocephalus reveals mutations of large effect size indicative of a developmental origin for the…”
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A spatially resolved brain region- and cell type-specific isoform atlas of the postnatal mouse brain
Published in Nature communications (19-01-2021)“…Splicing varies across brain regions, but the single-cell resolution of regional variation is unclear. We present a single-cell investigation of differential…”
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Single-cell isoform RNA sequencing characterizes isoforms in thousands of cerebellar cells
Published in Nature biotechnology (01-12-2018)“…Full-length spliced RNA isoforms are identified in thousands of single cerebellar cells. Full-length RNA sequencing (RNA-Seq) has been applied to bulk tissue,…”
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Activation of RhoC by regulatory ubiquitination is mediated by LNX1 and suppressed by LIS1
Published in Scientific reports (03-10-2022)“…Regulation of Rho GTPases remains a topic of active investigation as they are essential participants in cell biology and the pathophysiology of many human…”
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Tight junction protein occludin regulates progenitor Self-Renewal and survival in developing cortex
Published in eLife (03-12-2019)“…( ) mutations cause human microcephaly and cortical malformation. A tight junction component thought absent in neuroepithelium after neural tube closure, OCLN…”
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Metagenomic Predictions: A Review 10 years on
Published in Frontiers in genetics (20-07-2022)“…Metagenomic predictions use variation in the metagenome (microbiome profile) to predict the unknown phenotype of the associated host. Metagenomic predictions…”
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Astrocytes derived from ASD individuals alter behavior and destabilize neuronal activity through aberrant Ca2+ signaling
Published in Molecular psychiatry (01-05-2022)“…The cellular mechanisms of autism spectrum disorder (ASD) are poorly understood. Cumulative evidence suggests that abnormal synapse function underlies many…”
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Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome
Published in Nature genetics (01-10-2019)“…Hypopigmentation along Blaschko’s lines is a hallmark of a poorly defined group of mosaic syndromes whose genetic causes are unknown. Here we show that…”
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Multi-breed genomic evaluation for tropical beef cattle when no pedigree information is available
Published in Genetics selection evolution (Paris) (16-10-2023)“…Abstract Background It has been challenging to implement genomic selection in multi-breed tropical beef cattle populations. If commercial (often crossbred)…”
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Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia
Published in Annals of neurology (01-01-2017)“…Objective Exome sequences account for only 2% of the genome and may overlook mutations causing disease. To obtain a more complete view, whole genome sequencing…”
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Apical versus Basal Neurogenesis Directs Cortical Interneuron Subclass Fate
Published in Cell reports (Cambridge) (10-11-2015)“…Fate determination in the mammalian telencephalon, with its diversity of neuronal subtypes and relevance to neuropsychiatric disease, remains a critical area…”
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The Ciliary Margin Zone of the Mammalian Retina Generates Retinal Ganglion Cells
Published in Cell reports (Cambridge) (20-12-2016)“…The retina of lower vertebrates grows continuously by integrating new neurons generated from progenitors in the ciliary margin zone (CMZ). Whether the…”
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Genomic prediction using low-coverage portable Nanopore sequencing
Published in PloS one (15-12-2021)“…Most traits in livestock, crops and humans are polygenic, that is, a large number of loci contribute to genetic variation. Effects at these loci lie along a…”
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Expression network analysis of bovine skin infested with Rhipicephalus australis identifies pro-inflammatory genes contributing to tick susceptibility
Published in Scientific reports (23-02-2024)“…The skin is the primary feeding site of ticks that infest livestock animals such as cattle. The highly specialised functions of skin at the molecular level may…”
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Metagenomic predictions: from microbiome to complex health and environmental phenotypes in humans and cattle
Published in PloS one (04-09-2013)“…Mammals have a large cohort of endo- and ecto- symbiotic microorganisms (the microbiome) that potentially influence host phenotypes. There have been numerous…”
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Chromosome-Scale Genome Assembly of the Sheep-Biting Louse Bovicola ovis Using Nanopore Sequencing Data and Pore-C Analysis
Published in International journal of molecular sciences (17-07-2024)“…, commonly known as the sheep-biting louse, is an ectoparasite that adversely affects the sheep industry. Sheep louse infestation lowers the quality of…”
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Systems biology analysis of human genomes points to key pathways conferring spina bifida risk
Published in Proceedings of the National Academy of Sciences - PNAS (21-12-2021)“…Spina bifida (SB) is a debilitating birth defect caused by multiple gene and environment interactions. Though SB shows non-Mendelian inheritance, genetic…”
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A linkage disequilibrium-based approach to position unmapped SNPs in crop species
Published in BMC genomics (29-10-2021)“…Abstract Background High-density SNP arrays are now available for a wide range of crop species. Despite the development of many tools for generating genetic…”
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Adaptive sampling during sequencing reveals the origins of the bovine reproductive tract microbiome across reproductive stages and sexes
Published in Scientific reports (05-09-2022)“…Cattle enterprises are one of the major livestock production systems globally and are forecasted to have stable growth in the next decade. To facilitate…”
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Schizophrenia endothelial cells exhibit higher permeability and altered angiogenesis patterns in patient-derived organoids
Published in Translational psychiatry (23-01-2024)“…Schizophrenia (SCZ) is a complex neurodevelopmental disorder characterized by the manifestation of psychiatric symptoms in early adulthood. While many research…”
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