Correction

Autor: Sébastien Jacquemont, Marianne Bernadette van den Bree, Ffion Evans, Thomas M. Lancaster, Anne M. Maillard, Wendy K. Chung, David Skuse, Jeremy Hall, Jacqueline Smith, Cameron Watson, David Edmund Johannes Linden, Lee Anne Green-Snyder, Nigel Williams, F. Lucy Raymond, Samuel J.R.A. Chawner, Stefanie C. Linden, Michael John Owen

Publikováno v: Translational Psychiatry, Vol 11, Iss 1, Pp 1-1 (2021)
Translational Psychiatry, 11(1):372. Nature Publishing Group
Translational Psychiatry

Copy number variants are amongst the most highly penetrant risk factors for psychopathology and neurodevelopmental deficits, but little information about the detailed clinical phenotype associated with particular variants is available. We present the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c57f50d0933ecf446b32d890c7ed4308
https://doi.org/10.1038/s41398-021-01296-9

The psychiatric phenotypes of 1q21 distal deletion and duplication

Autor: Jeremy Hall, David Skuse, Ffion Evans, Anne M. Maillard, Michael John Owen, F. Lucy Raymond, David Edmund Johannes Linden, Lee Anne Green-Snyder, Thomas M. Lancaster, Sébastien Jacquemont, Samuel J.R.A. Chawner, Stefanie C. Linden, Nigel Williams, Jacqueline Smith, Marianne Bernadette van den Bree, Cameron Watson, Wendy K. Chung

Publikováno v: Translational Psychiatry
Translational Psychiatry, 11(1):105. Nature Publishing Group
Translational Psychiatry, Vol 11, Iss 1, Pp 1-10 (2021)

Copy number variants are amongst the most highly penetrant risk factors for psychopathology and neurodevelopmental deficits, but little information about the detailed clinical phenotype associated with particular variants is available. We present the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dffff44fb73b5d49bba4454f7ea2931d
http://europepmc.org/articles/PMC7862693

Clinical evaluation of patients with a neuropsychiatric risk copy number variant

Autor: Michael John Owen, Cameron Watson, Samuel J.R.A. Chawner

Publikováno v: Current Opinion in Genetics & Development

Several copy number variants (CNVs) have been identified to confer high risk for a range of neuropsychiatric conditions. Because of advances in genetic testing within clinical settings, patients are increasingly receiving diagnoses of copy number var

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90a07a9907ab4bd44c372af2899d7682
https://pubmed.ncbi.nlm.nih.gov/33461126

Copy number variants (CNVs): a powerful tool for iPSC-based modelling of ASD

Autor: Marianne Bernadette van den Bree, Rivka Ofir, Vivi M. Heine, Spyros Petrakis, Anna Falk, Antonio Rodríguez-Moreno, Yasir Ahmed Syed, Giuseppe Testa, Srdjan Djurovic, Samuel J.R.A. Chawner, Sebastiano Trattaro, Danijela Drakulic, Nicolò Caporale, Adrian J. Harwood

Publikováno v: Molecular Autism
Drakulic, D, Djurovic, S, Syed, Y A, Trattaro, S, Caporale, N, Falk, A, Ofir, R, Heine, V M, Chawner, S J R A, Rodriguez-Moreno, A, van den Bree, M B M, Testa, G, Petrakis, S & Harwood, A J 2020, ' Copy number variants (CNVs) : a powerful tool for iPSC-based modelling of ASD ', Molecular Autism, vol. 11, no. 1, 42 . https://doi.org/10.1186/s13229-020-00343-4
Drakulic, D, Djurovic, S, Syed, Y A, Trattaro, S, Caporale, N, Falk, A, Ofir, R, Heine, V M, Chawner, S J R A, Rodriguez-Moreno, A, van den Bree, M B M, Testa, G, Petrakis, S & Harwood, A J 2020, ' Copy number variants (CNVs) : a powerful tool for iPSC-based modelling of ASD ', Molecular autism, vol. 11, no. 1, 42 . https://doi.org/10.1186/s13229-020-00343-4
Molecular Autism, Vol 11, Iss 1, Pp 1-18 (2020)

Patients diagnosed with chromosome microdeletions or duplications, known as copy number variants (CNVs), present a unique opportunity to investigate the relationship between patient genotype and cell phenotype. CNVs have high genetic penetrance and g

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cde60bbc746768b945b97ad30d33cb5a
https://doi.org/10.1186/s13229-020-00343-4

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

Autor: Sarah Curran, LeeAnne Green-Snyder, Caitlin C. Clements, Hayley Moss, Jacob A. S. Vorstman, Joanne L. Doherty, Sébastien Jacquemont, Louise Gallagher, Wendy R. Kates, Robin P. Goin-Kochel, Raphael Bernier, Ellen Hanson, Marina Mihaljevic, Wendy K. Chung, A. Maillard, Samuel J.R.A. Chawner, Tara L. Wenger, Kevin M. Antshel, Donna M. McDonald-McGinn, Raquel E. Gur, Carrie E. Bearden, Michael John Owen, Milica Pejovic-Milovancevic, Judith Miller, Richard Anney, Robert T. Schultz, Ania M Fiksinski, Leila Kushan, Marianne Bernadette van den Bree, Goran Cuturilo, Jeremy Hall

ObjectiveCertain copy number variants (CNVs) greatly increase risk of autism. We conducted a genetics-first study to investigate whether heterogeneity in the clinical presentation of autism is underpinned by specific genotype-phenotype relationships.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0de39ed04ece3e965956787ac82a3cb5
https://doi.org/10.1101/2020.01.14.20017426