Results 31 to 40 of about 475,380 (299)

1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans

Translational Psychiatry, 2021
Low-frequency 1q21.1 distal deletion and duplication copy number variant (CNV) carriers are predisposed to multiple neurodevelopmental disorders, including schizophrenia, autism and intellectual disability.
I. Sønderby, Dennis van der Meer, C. Moreau, T. Kaufmann, G. Walters, Maria Ellegaard, A. Abdellaoui, D. Ames, K. Amunts, M. Andersson, N. Armstrong, M. Bernard, N. Blackburn, J. Blangero, D. Boomsma, H. Brodaty, R. Brouwer, R. Bülow, Rune Boen, W. Cahn, V. Calhoun, S. Caspers, C. Ching, S. Cichon, S. Ciufolini, B. Crespo-Facorro, J. Curran, A. Dale, S. Dalvie, P. Dazzan, E. D. de Geus, G. D. de Zubicaray, S. D. de Zwarte, S. Desrivières, J. Doherty, G. Donohoe, Bogdan Draganski, S. Ehrlich, E. Eising, T. Espeseth, K. Fejgin, S. Fisher, T. Fladby, O. Frei, V. Frouin, M. Fukunaga, Thomas Gareau, T. Ge, D. Glahn, H. Grabe, N. Groenewold, Ó. Gústafsson, J. Haavik, A. Håberg, J. Hall, Ryota Hashimoto, J. Hehir-Kwa, D. Hibar, M. Hillegers, P. Hoffmann, L. Holleran, A. Holmes, G. Homuth, J. Hottenga, H. H. Hulshoff Pol, M. Ikeda, N. Jahanshad, C. Jockwitz, S. Johansson, E. Jönsson, N. Jørgensen, M. Kikuchi, E. Knowles, Kuldeep Kumar, S. Le Hellard, C. Leu, D. Linden, Jingyu Liu, A. Lundervold, A. Lundervold, A. Maillard, N. G. Martin, S. Martin-Brevet, K. Mather, S. Mathias, K. Mcmahon, A. McRae, S. Medland, A. Meyer-Lindenberg, T. Moberget, C. Modenato, J. M. Sánchez, D. Morris, Thomas W. Mühleisen, Robin M. Murray, J. Nielsen, J. Nordvik, L. Nyberg, L. M. Loohuis, R. Ophoff, M. Owen, T. Paus, Z. Pausova, J. Peralta, G. Pike, C. Prieto, E. Quinlan, C. Reinbold, T. Marques, J. Rucker, P. Sachdev, S. Sando, P. Schofield, A. Schork, G. Schumann, Jean Shin, E. Shumskaya, Ana I. Silva, S. Sisodiya, V. Steen, D. Stein, Lachlan T. Strike, Ikuo K. Suzuki, C. K. Tamnes, A. Teumer, A. Thalamuthu, D. Tordesillas-Gutiérrez, A. Uhlmann, M. Ulfarsson, D. van ‘t Ent, Marianne B. M. van den Bree, P. Vanderhaeghen, E. Vassos, W. Wen, K. Wittfeld, M. Wright, I. Agartz, S. Djurovic, L. Westlye, H. Stefánsson, K. Stefánsson, S. Jacquemont, P. Thompson, O. Andreassen, Dennis Eco J. C. Greig I. Sonja M. C. Stephanie Dennis Ma van der Meer de Geus de Zubicaray de Zwarte Le Hel, Dennis van der Meer, E. D. de Geus, G. D. de Zubicaray, S. Le Hellard, Marianne B. M. van den Bree   +149 more
semanticscholar   +1 more source

Copy Number Variants in Alzheimer’s Disease

Journal of Alzheimer's Disease, 2016
Alzheimer’s disease (AD) is a devastating disease mainly afflicting elderly people, characterized by decreased cognition, loss of memory, and eventually death. Although risk and deterministic genes are known, major genetics research programs are underway to gain further insights into the inheritance of AD.
Cuccaro Denis, De Marco Elvira Valeria, Cittadella Rita, Cavallaro Sebastiano   +3 more
openaire   +5 more sources

Identification of copy number variants in horses [PDF]

Genome Research, 2012
Copy number variants (CNVs) represent a substantial source of genetic variation in mammals. However, the occurrence of CNVs in horses and their subsequent impact on phenotypic variation is unknown. We performed a study to identify CNVs in 16 horses representing 15 distinct breeds (Equus caballus) and an individual gray donkey (Equus asinus) using a ...
Ryan, Doan, Noah, Cohen, Jessica, Harrington, Kylee, Veazey, Kylee, Veazy, Rytis, Juras, Gus, Cothran, Molly E, McCue, Loren, Skow, Scott V, Dindot   +9 more
openaire   +3 more sources

Parallel Tests of Whole Exome Sequencing and Copy Number Variant Sequencing Increase the Diagnosis Yields of Rare Pediatric Disorders

Frontiers in Genetics, 2020
Background: Both whole exome sequencing and copy number variants sequencing were applied to identify the genetic cause of rare pediatric disorders.
Xuyun Hu, Xuyun Hu, Xuyun Hu, Ruolan Guo, Ruolan Guo, Ruolan Guo, Jun Guo, Jun Guo, Jun Guo, Zhan Qi, Zhan Qi, Zhan Qi, Wei Li, Wei Li, Wei Li, Chanjuan Hao, Chanjuan Hao, Chanjuan Hao   +17 more
doaj   +1 more source

MYC amplifications are common events in childhood osteosarcoma

The Journal of Pathology: Clinical Research, 2021
Osteosarcoma, the most common primary malignant tumour of bone, affects both children and adults. No fundamental biological differences between paediatric and adult osteosarcoma are known.
Solange De Noon, Jannat Ijaz, Tim HH Coorens, Fernanda Amary, Hongtao Ye, Anna Strobl, Iben Lyskjær, Adrienne M Flanagan, Sam Behjati   +8 more
doaj   +1 more source

The individual and global impact of copy number variants on complex human traits

medRxiv, 2021
Copy number variations (CNVs) have been involved in multiple genomic disorders but their impact on complex traits remains understudied. We called CNVs in the UK Biobank and performed genome-wide association scans (GWASs) between the copy-number of CNV ...
C. Auwerx, M. Lepamets, M. Sadler, M. Patxot, M. Stojanov, D. Baud, R. Mägi, E. Porcu, A. Reymond, Z. Kutalik   +9 more
semanticscholar   +1 more source

Schizophrenia copy number variants and associative learning [PDF]

Molecular Psychiatry, 2016
Large-scale genomic studies have made major progress in identifying genetic risk variants for schizophrenia. A key finding from these studies is that there is an increased burden of genomic copy number variants (CNVs) in schizophrenia cases compared with controls.
Clifton, N. E., Pocklington, A. J., Scholz, B., Rees, E., Walters, J. T. R., Kirov, G., O'Donovan, M. C., Owen, M. J., Wilkinson, L. S., Thomas, K. L., Hall, J.   +10 more
openaire   +3 more sources

A Genetics-First Approach to Dissecting the Heterogeneity of Autism: Phenotypic Comparison of Autism Risk Copy Number Variants.

American Journal of Psychiatry, 2020
OBJECTIVE Certain copy number variants (CNVs) greatly increase the risk of autism. The authors conducted a genetics-first study to investigate whether heterogeneity in the clinical presentation of autism is underpinned by specific genotype-phenotype ...
S. Chawner, J. Doherty, R. Anney, K. Antshel, C. Bearden, R. Bernier, W. Chung, C. Clements, S. Curran, G. Cuturilo, A. Fiksinski, L. Gallagher, R. Goin-Kochel, L. Kushan, R. Gur, E. Hanson, S. Jacquemont, W. Kates, A. Maillard, D. McDonald-McGinn, M. Mihaljevic, Judith S Miller, H. Moss, M. Pejović-Milovančević, R. Schultz, LeeAnne Green-Snyder, J. Vorstman, T. Wenger, J. Hall, M. Owen, M. V. D. van den Bree   +30 more
semanticscholar   +1 more source

Genomic characteristics of miscarriage copy number variants [PDF]

Molecular Human Reproduction, 2015
Studies of copy number variants (CNVs) in miscarriages are rare in comparison to post-natal cases with developmental abnormalities. The overall characteristics of miscarriage CNVs (size, gene content and function) are therefore largely unexplored. Our goal was to assess and compare the characteristics of CNVs identified in 101 euploid miscarriages from
Hani, Bagheri, Eloi, Mercier, Ying, Qiao, Mary D, Stephenson, Evica, Rajcan-Separovic   +4 more
openaire   +2 more sources

Cognitive performance and functional outcomes of carriers of pathogenic copy number variants: analysis of the UK Biobank

British Journal of Psychiatry, 2019
Background Rare copy number variants (CNVs) are associated with risk of neurodevelopmental disorders characterised by varying degrees of cognitive impairment, including schizophrenia, autism spectrum disorder and intellectual disability.
K. Kendall, Matthew Bracher-Smith, H. Fitzpatrick, A. Lynham, E. Rees, V. Escott-Price, M. Owen, M. O’Donovan, J. Walters, G. Kirov   +9 more
semanticscholar   +1 more source