Burden of Rare Genetic Variants in Spontaneous Coronary Artery Dissection With High-risk Features.
Sign Up to like & getrecommendations! Published in 2022 at "JAMA cardiology"
DOI: 10.1001/jamacardio.2022.2970
Abstract: Importance The emerging genetic basis of spontaneous coronary artery dissection (SCAD) has been defined as both partially complex and monogenic in some patients, involving variants predominantly in genes known to underlie vascular connective tissue diseases… read more here.
Keywords: risk scad; high risk; rare genetic; individuals high ... See more keywords
Convergence and Divergence of Rare Genetic Disorders on Brain Phenotypes: A Review.
Sign Up to like & getrecommendations! Published in 2022 at "JAMA psychiatry"
DOI: 10.1001/jamapsychiatry.2022.1450
Abstract: Importance Rare genetic disorders modulating gene expression-as exemplified by gene dosage disorders (GDDs)-represent a collectively common set of high-risk factors for neuropsychiatric illness. Research on GDDs is rapidly expanding because these variants have high effect… read more here.
Keywords: genetic disorders; convergence divergence; brain; rare genetic ... See more keywords
Assessing the role of rare genetic variants in drug‐resistant, non‐lesional focal epilepsy
Sign Up to like & getrecommendations! Published in 2021 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.51374
Abstract: Resistance to antiseizure medications (ASMs) is one of the major concerns in the treatment of epilepsy. Despite the increasing number of ASMs available, the proportion of individuals with drug‐resistant epilepsy remains unchanged. In this study,… read more here.
Keywords: epilepsy; role rare; genetic variants; drug resistant ... See more keywords
Rare Genetic Variation and Outcome of Surgery for Mesial Temporal Lobe Epilepsy
Sign Up to like & getrecommendations! Published in 2022 at "Annals of Neurology"
DOI: 10.1002/ana.26581
Abstract: Genetic factors have long been debated as a cause of failure of surgery for mesial temporal lobe epilepsy (MTLE). We investigated whether rare genetic variation influences seizure outcomes of MTLE surgery. read more here.
Keywords: surgery; lobe epilepsy; rare genetic; temporal lobe ... See more keywords
GeneBreaker: Variant simulation to improve the diagnosis of Mendelian rare genetic diseases
Sign Up to like & getrecommendations! Published in 2020 at "Human Mutation"
DOI: 10.1002/humu.24163
Abstract: Mendelian rare genetic diseases affect 5%–10% of the population, and with over 5300 genes responsible for ∼7000 different diseases, they are challenging to diagnose. The use of whole‐genome sequencing (WGS) has bolstered the diagnosis rate… read more here.
Keywords: mendelian rare; diagnosis; genebreaker; variant simulation ... See more keywords
The experiences of adolescent siblings of children with rare genetic conditions: “It's made me who I am”
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Genetic Counseling"
DOI: 10.1002/jgc4.1636
Abstract: Childhood genetic conditions impact not only the child who is diagnosed but also the day‐to‐day lives of all members of a family. However, our understanding of the perspectives and needs of unaffected adolescents in families… read more here.
Keywords: adolescent siblings; children rare; genetic conditions; experiences adolescent ... See more keywords
International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases
Sign Up to like & getrecommendations! Published in 2017 at "American Journal of Human Genetics"
DOI: 10.1016/j.ajhg.2017.04.003
Abstract: Provision of a molecularly confirmed diagnosis in a timely manner for children and adults with rare genetic diseases shortens their “diagnostic odyssey,” improves disease management, and fosters genetic counseling with respect to recurrence risks while… read more here.
Keywords: diagnosis rare; diagnosis; rare diseases; genetics ... See more keywords
The role of registries in rare genetic lipid disorders: Review and introduction of the first global registry in lipoprotein lipase deficiency.
Sign Up to like & getrecommendations! Published in 2017 at "Atherosclerosis"
DOI: 10.1016/j.atherosclerosis.2016.08.023
Abstract: A good understanding of the natural history of rare genetic lipid disorders is a pre-requisite for successful patient management. Disease registries have been helpful in this regard. Lipoprotein Lipase Deficiency (LPLD) is a rare, autosomal-recessive… read more here.
Keywords: lipid disorders; lipase deficiency; registry; rare genetic ... See more keywords
SU76 INCREASED FREQUENCY OF RARE GENETIC DISEASE VARIANTS IN LARGE SCHIZOPHRENIA, BIPOLAR, AND DEPRESSION POPULATIONS
Sign Up to like & getrecommendations! Published in 2019 at "European Neuropsychopharmacology"
DOI: 10.1016/j.euroneuro.2017.08.265
Abstract: Background Genetic diseases are individually rare but collectively common. Many genetic conditions can mimic mental health disorders, with psychiatric symptoms that are difficult to treat with regular medications. Treatment of the underlying genetic disease can… read more here.
Keywords: disease; genetic disease; schizophrenia bipolar; genetic diseases ... See more keywords
The complement system in age-related macular degeneration: A review of rare genetic variants and implications for personalized treatment
Sign Up to like & getrecommendations! Published in 2017 at "Molecular Immunology"
DOI: 10.1016/j.molimm.2016.11.016
Abstract: HighlightsThe complement system plays a central role in age‐related macular degeneration (AMD).Common and rare genetic variants in complement genes have been identified in AMD.Several of the rare variants affect the functioning of the complement system.However,… read more here.
Keywords: age related; related macular; complement system; complement ... See more keywords
Enrichment of rare genetic variants in astrocyte gene enriched co-expression modules altered in postmortem brain samples of schizophrenia
Sign Up to like & getrecommendations! Published in 2019 at "Neurobiology of Disease"
DOI: 10.1016/j.nbd.2018.10.013
Abstract: The transcriptome profiles of the cingulate gyrus region from the postmortem brain tissues of a set of well-characterized patients with schizophrenia (SCZ) and matched controls were investigated using an integrated approach that analyzed both the… read more here.
Keywords: postmortem brain; genetic variants; expression modules; expression ... See more keywords