Genomic Disorders in Psychiatry—What Does the Clinician Need to Know?
Sign Up to like & getrecommendations! Published in 2017 at "Current Psychiatry Reports"
DOI: 10.1007/s11920-017-0831-5
Abstract: Purpose of ReviewThe purpose of this review is to summarize the role of genomic disorders in various psychiatric conditions and to highlight important recent advances in the field that are of potential clinical relevance.Recent FindingsGenomic… read more here.
Keywords: genomic disorders; clinician need; disorders psychiatry; psychiatry clinician ... See more keywords
An estimation of the prevalence of genomic disorders using chromosomal microarray data
Sign Up to like & getrecommendations! Published in 2018 at "Journal of human genetics"
DOI: 10.1038/s10038-018-0451-x
Abstract: Multiple genomic disorders result from recurrent deletions or duplications between low copy repeat (LCR) clusters, mediated by nonallelic homologous recombination. These copy number variants (CNVs) often exhibit variable expressivity and/or incomplete penetrance. However, the population… read more here.
Keywords: genomic disorders; chromosomal microarray; genetics; prevalence ... See more keywords
Rare genetic causes of complex kidney and urological diseases
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DOI: 10.1038/s41581-020-0325-2
Abstract: Although often considered a single-entity, chronic kidney disease (CKD) comprises many pathophysiologically distinct disorders that result in persistently abnormal kidney structure and/or function, and encompass both monogenic and polygenic aetiologies. Rare inherited forms of CKD… read more here.
Keywords: genomic disorders; kidney; forms ckd; phenotypic ... See more keywords
Efficient CNV breakpoint analysis reveals unexpected structural complexity and correlation of dosage‐sensitive genes with clinical severity in genomic disorders
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DOI: 10.1093/hmg/ddx102
Abstract: &NA; Genomic disorders are the clinical conditions manifested by submicroscopic genomic rearrangements including copy number variants (CNVs). The CNVs can be identified by array‐based comparative genomic hybridization (aCGH), the most commonly used technology for molecular… read more here.
Keywords: structural complexity; genomic disorders; dosage sensitive; cnv breakpoint ... See more keywords