TY  - JOUR
AU  - Drakulić, Danijela
AU  - Đurović, Srđan
AU  - Syed, Yasir Ahmed
AU  - Trattaro, Sebastiano
AU  - Caporale, Nicolo
AU  - Falk, Anna
AU  - Ofir, Rivka
AU  - Heine, Vivi M.
AU  - Chawner, Samuel J. R. A.
AU  - Rodriguez-Moreno, Antonio
AU  - van den Bree, Marianne B. M.
AU  - Testa, Giuseppe
AU  - Petrakis, Spyros
AU  - Harwood, Adrian J.
PY  - 2020
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/1330
AB  - 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 give a good correlation between gene locus and patient clinical phenotype. This is especially effective for the study of patients with neurodevelopmental disorders (NDD), including those falling within the autism spectrum disorders (ASD). A key question is whether this correlation between genetics and clinical presentation at the level of the patient can be translated to the cell phenotypes arising from the neurodevelopment of patient induced pluripotent stem cells (iPSCs). Here, we examine how iPSCs derived from ASD patients with an associated CNV inform our understanding of the genetic and biological mechanisms underlying the aetiology of ASD. We consider selection of genetically characterised patient iPSCs; use of appropriate control lines; aspects of human neurocellular biology that can capture in vitro the patient clinical phenotype; and current limitations of patient iPSC-based studies. Finally, we consider how future research may be enhanced to maximise the utility of CNV patients for research of pathological mechanisms or therapeutic targets.
PB  - BMC, London
T2  - Molecular Autism
T1  - Copy number variants (CNVs): a powerful tool for iPSC-based modelling of ASD
IS  - 1
VL  - 11
DO  - 10.1186/s13229-020-00343-4
ER  - 

@article{
author = "Drakulić, Danijela and Đurović, Srđan and Syed, Yasir Ahmed and Trattaro, Sebastiano and Caporale, Nicolo and Falk, Anna and Ofir, Rivka and Heine, Vivi M. and Chawner, Samuel J. R. A. and Rodriguez-Moreno, Antonio and van den Bree, Marianne B. M. and Testa, Giuseppe and Petrakis, Spyros and Harwood, Adrian J.",
year = "2020",
abstract = "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 give a good correlation between gene locus and patient clinical phenotype. This is especially effective for the study of patients with neurodevelopmental disorders (NDD), including those falling within the autism spectrum disorders (ASD). A key question is whether this correlation between genetics and clinical presentation at the level of the patient can be translated to the cell phenotypes arising from the neurodevelopment of patient induced pluripotent stem cells (iPSCs). Here, we examine how iPSCs derived from ASD patients with an associated CNV inform our understanding of the genetic and biological mechanisms underlying the aetiology of ASD. We consider selection of genetically characterised patient iPSCs; use of appropriate control lines; aspects of human neurocellular biology that can capture in vitro the patient clinical phenotype; and current limitations of patient iPSC-based studies. Finally, we consider how future research may be enhanced to maximise the utility of CNV patients for research of pathological mechanisms or therapeutic targets.",
publisher = "BMC, London",
journal = "Molecular Autism",
title = "Copy number variants (CNVs): a powerful tool for iPSC-based modelling of ASD",
number = "1",
volume = "11",
doi = "10.1186/s13229-020-00343-4"
}

Drakulić, D., Đurović, 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. in Molecular Autism
BMC, London., 11(1).
https://doi.org/10.1186/s13229-020-00343-4

Drakulić D, Đurović S, Syed YA, Trattaro S, Caporale N, Falk A, Ofir R, Heine VM, Chawner SJRA, Rodriguez-Moreno A, van den Bree MBM, Testa G, Petrakis S, Harwood AJ. Copy number variants (CNVs): a powerful tool for iPSC-based modelling of ASD. in Molecular Autism. 2020;11(1).
doi:10.1186/s13229-020-00343-4 .

Drakulić, Danijela, Đurović, Srđan, Syed, Yasir Ahmed, Trattaro, Sebastiano, Caporale, Nicolo, Falk, Anna, Ofir, Rivka, Heine, Vivi M., Chawner, Samuel J. R. A., Rodriguez-Moreno, Antonio, van den Bree, Marianne B. M., Testa, Giuseppe, Petrakis, Spyros, Harwood, Adrian J., "Copy number variants (CNVs): a powerful tool for iPSC-based modelling of ASD" in Molecular Autism, 11, no. 1 (2020),
https://doi.org/10.1186/s13229-020-00343-4 . .