Search Results - "Fernandez, Thomas"
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1
Efficient reconstruction of cell lineage trees for cell ancestry and cancer
Published in Nucleic acids research (09-06-2023)“…Abstract Mosaic mutations can be used to track cell ancestries and reconstruct high-resolution lineage trees during cancer progression and during development,…”
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2
Improved cytosine base editors generated from TadA variants
Published in Nature biotechnology (01-05-2023)“…Cytosine base editors (CBEs) enable programmable genomic C·G-to-T·A transition mutations and typically comprise a modified CRISPR–Cas enzyme, a naturally…”
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3
The genetics of trichotillomania and excoriation disorder: A systematic review
Published in Comprehensive psychiatry (01-08-2024)“…Trichotillomania (TTM) and excoriation disorder (ED) are impairing obsessive-compulsive related disorders that are common in the general population and for…”
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4
Early developmental asymmetries in cell lineage trees in living individuals
Published in Science (American Association for the Advancement of Science) (19-03-2021)“…Mosaic mutations can be used to track cell lineages in humans. We used cell cloning to analyze embryonic cell lineages in two living individuals and a…”
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4.1 New Genetic Findings in Tourette’s and Tic Disorders
Published in Journal of the American Academy of Child and Adolescent Psychiatry (01-10-2018)“…This presentation will provide an overview of the latest research findings and methodologies in genetic investigations of Tourette’s disorder (TD) and tic…”
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5.1 Gene Discovery in Neuropsychiatric Disorders
Published in Journal of the American Academy of Child and Adolescent Psychiatry (01-10-2018)“…The goal of this presentation will be to introduce the audience to methods of genetic discovery in childhood neuropsychiatric disorders. Recent studies in ASD,…”
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Whole‐exome DNA sequencing in childhood anxiety disorders identifies rare de novo damaging coding variants
Published in Depression and anxiety (01-06-2022)“…Background Genetic factors contribute to the development of anxiety disorders, yet few risk genes have been previously identified. One genomic approach that…”
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Transcriptome Analysis of the Human Striatum in Tourette Syndrome
Published in Biological psychiatry (1969) (01-03-2016)“…Abstract Background Genome-wide association studies have not revealed any risk-conferring common genetic variants in Tourette syndrome (TS), requiring the…”
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Primary complex motor stereotypies are associated with de novo damaging DNA coding mutations that identify KDM5B as a risk gene
Published in PloS one (03-10-2023)“…Motor stereotypies are common in children with autism spectrum disorder (ASD), intellectual disability, or sensory deprivation, as well as in typically…”
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10
Protocol description for a randomized controlled trial of fMRI neurofeedback for tics in adolescents with Tourette Syndrome
Published in Psychiatry research. Neuroimaging (01-12-2023)“…This article describes the protocol for a randomized, controlled clinical trial of a neurofeedback (NF) intervention for Tourette Syndrome (TS) and chronic tic…”
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11
Genetic Insights Into ADHD Biology
Published in Frontiers in psychiatry (07-06-2018)“…ADHD is a neurobiological disorder with a large worldwide prevalence causing significant impairment in children, adolescents, and adults. While there is…”
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Characteristics of trichotillomania and excoriation disorder across the lifespan
Published in Psychiatry research (01-04-2023)“…•Individuals with trichotillomania, excoriation disorder, and both conditions share many characteristics with high rates of co-occurring disorders.•Among…”
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13
What Makes You Tic? A New Lead in Tourette Syndrome Genetics
Published in Biological psychiatry (1969) (01-03-2016)Get full text
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14
A cellular perspective of bias at G protein‐coupled receptors
Published in Protein science (01-06-2020)“…G protein‐coupled receptors (GPCRs) modulate cell function over short‐ and long‐term timescales. GPCR signaling depends on biochemical parameters that define…”
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What is the optimal anesthetic monitoring regarding immediate and short‐term outcomes after liver transplantation?—A systematic review of the literature and expert panel recommendations
Published in Clinical transplantation (01-10-2022)“…Background Liver transplant centers vary in approach to intraoperative vascular accesses, monitoring of cardiac function and temperature management. Evidence…”
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Motor Stereotypies: A Pathophysiological Review
Published in Frontiers in neuroscience (29-03-2017)“…Motor stereotypies are common, repetitive, rhythmic movements with typical onset in early childhood. While most often described in children with autism…”
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Clinical characteristics of probands with obsessive-compulsive disorder from simplex and multiplex families
Published in Psychiatry research (01-01-2024)“…•Multiplex and simplex families.•994 Brazilian probands with OCD.•Multiplex probands have more prevalence of sexual/religious and hoarding symptom…”
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Rare de novo damaging DNA variants are enriched in attention-deficit/hyperactivity disorder and implicate risk genes
Published in Nature communications (12-07-2024)“…Research demonstrates the important role of genetic factors in attention-deficit/hyperactivity disorder (ADHD). DNA sequencing of families provides a powerful…”
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De Novo Damaging DNA Coding Mutations Are Associated With Obsessive-Compulsive Disorder and Overlap With Tourette’s Disorder and Autism
Published in Biological psychiatry (1969) (15-06-2020)“…Obsessive-compulsive disorder (OCD) is a debilitating neuropsychiatric disorder with a genetic risk component, yet identification of high-confidence risk genes…”
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20
Base-editing corrects metabolic abnormalities in a humanized mouse model for glycogen storage disease type-Ia
Published in Nature communications (10-11-2024)“…Glycogen storage disease type-Ia patients, deficient in the G6PC1 gene encoding glucose-6-phosphatase-α, lack blood glucose control, resulting in…”
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