Search Results - "McClymont, Sarah A"
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Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA
Published in American journal of human genetics (07-01-2016)“…We performed whole-genome sequencing (WGS) of 208 genomes from 53 families affected by simplex autism. For the majority of these families, no copy-number…”
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Evaluating the mouse neural precursor line, SN4741, as a suitable proxy for midbrain dopaminergic neurons
Published in BMC genomics (07-06-2023)“…To overcome the ethical and technical limitations of in vivo human disease models, the broader scientific community frequently employs model organism-derived…”
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m6A RNA methylation orchestrates transcriptional dormancy during paused pluripotency
Published in Nature cell biology (01-09-2023)“…Embryos across metazoan lineages can enter reversible states of developmental pausing, or diapause, in response to adverse environmental conditions. The…”
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Single-Cell RNA-Seq of Mouse Dopaminergic Neurons Informs Candidate Gene Selection for Sporadic Parkinson Disease
Published in American journal of human genetics (01-03-2018)“…Genetic variation modulating risk of sporadic Parkinson disease (PD) has been primarily explored through genome-wide association studies (GWASs). However, like…”
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SOX9 modulates cancer biomarker and cilia genes in pancreatic cancer
Published in Human molecular genetics (30-04-2021)“…Abstract Pancreatic ductal adenocarcinoma (PDAC) is an aggressive form of cancer with high mortality. The cellular origins of PDAC are largely unknown;…”
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Parkinson-Associated SNCA Enhancer Variants Revealed by Open Chromatin in Mouse Dopamine Neurons
Published in American journal of human genetics (06-12-2018)“…The progressive loss of midbrain (MB) dopaminergic (DA) neurons defines the motor features of Parkinson disease (PD), and modulation of risk by common variants…”
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Novel temporal, fine‐scale and growth variation phenotypes in roots of adult‐stage maize (Zea mays L.) in response to low nitrogen stress
Published in Plant, cell and environment (01-12-2011)“…ABSTRACT There is interest in discovering root traits associated with acclimation to nutrient stress. Large root systems, such as in adult maize, have proven…”
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Nitrogen Adaptation Strategy of the Wild Teosinte Ancestor of Modern Maize, Zea mays subsp. parviglumis
Published in Crop science (01-11-2011)“…Examination of wild ancestors can identify which traits have been altered by selection as possible targets for genetic improvement. We investigated the whole…”
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The effect of altered dosage of a mutant allele of Teosinte branched 1 (tb1-ref) on the root system of modern maize
Published in BMC genetics (14-02-2014)“…There was ancient human selection on the wild progenitor of modern maize, Balsas teosinte, for decreased shoot branching (tillering), in order to allow more…”
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ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm
Published in Nature genetics (01-01-2019)“…Bicuspid aortic valve (BAV) is a common congenital heart defect (population incidence, 1–2%) 1 – 3 that frequently presents with ascending aortic aneurysm…”
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