Results 251 to 260 of about 517,834 (299)

Screening of biobank SNP-array genotyping data to detect Lynch syndrome predisposing MLH1 copy number variants. [PDF]

Fam Cancer
Ala-Kulju K, Carpén O, Lappalainen M, Pehrsson M.   +3 more
europepmc   +1 more source

A burden of rare copy number variants in obsessive-compulsive disorder. [PDF]

Mol Psychiatry
Halvorsen MW, de Schipper E, Bäckman J, Strom NI, Hagen K, Nordic OCD and Related Disorders Consortium (NORDiC), Lindblad-Toh K, Karlsson EK, Pedersen NL, Wallert J, Bulik CM, Fundín B, Landén M, Kvale G, Hansen B, Haavik J, Mattheisen M, Rück C, Mataix-Cols D, Crowley JJ.   +19 more
europepmc   +1 more source

Rare Copy Number Variants Reveal Critical Cell Types and Periods of Brain Development in Neurodevelopmental Disorders. [PDF]

Biol Psychiatry Glob Open Sci
Malwade S, Sellgren CM, Vasistha NA, Khodosevich K.   +3 more
europepmc   +1 more source

Polygenicity in a box: Copy number variants, neural circuit development, and neurodevelopmental disorders. [PDF]

Curr Opin Neurobiol
LaMantia AS.
europepmc   +1 more source

Plasma metabolomic signatures for copy number variants and COVID-19 risk loci in Northern Finland populations. [PDF]

Sci Rep
De T, Coin L, Herberg J, Johnson MR, Järvelin MR.   +4 more
europepmc   +1 more source

Neurodevelopmental copy number variants increase risk of internalising and cardiometabolic multimorbidity: findings from UK Biobank

Katzourou IK, LINC consortium, Barroso I, Clayton J, Khandaker G, Stow D, Timpson N, Tsang R, Underwood J, Wood M, Kirov G, Walters J, Owen MJ, Holmans P, van den Bree MBM.   +14 more
europepmc   +1 more source

The impact of rare pathogenic CNVs is exacerbated by assortative mating

Cevallos C, Auwerx C, Hofmeister R, Cavinato T, Schoeler T, Kutalik Z, Reymond A.   +6 more
europepmc   +1 more source

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Copy Number Variants and Pharmacogenomics

Pharmacogenomics, 2005
The earliest pharmacogenomic studies focused on highly penetrant sequence polymorphisms in drug-metabolizing enzymes. The recent discovery of the widespread occurrence of copy number variants/polymorphisms in the human genome holds promise for new pharmacogenomic discoveries, aside from the commonly used single nucleotide polymorphism approach. Here we
Karim, Ouahchi, Neal, Lindeman, Charles, Lee   +2 more
openaire   +2 more sources

Somatic copy number variants in neuropsychiatric disorders

Current Opinion in Genetics & Development, 2021
Copy number variants (CNVs) have been implicated in neuropsychiatric disorders, with rare-inherited and de novo CNVs (dnCNVs) having large effects on disease liability. Recent studies started exploring a class of dnCNVs that occur post-zygotically, and are therefore present in some but not all cells of the body.
Eduardo A Maury, Christopher A Walsh
openaire   +2 more sources