Our recent publications - highlights

2016

The importance of copy number variation in congenital heart disease
Costain G, Silversides CK, Bassett AS.
Genomic Medicine (2016) 1, 16031; (doi:10.1038/npjgenmed.2016.31); published online 14 September 2016

Copy number variations are significant contributors to congenital heart disease. This review surveys recent advances in the field of structural genomics. It also explores the clinical translation of findings and the anticipated future wave of whole-genome sequencing studies.

Internet Safety Issues for Adolescents and Adults with Intellectual Disabilities.
Buijs PC, Boot E, Shugar A, Fung WL, Bassett AS.
J Appl Res Intellect Disabil. 2016 Feb 23. (doi: 10.1111/jar.12250). [Epub ahead of print]

This article describes possible Internet dangers that adolescents and adults with intellectual disabilities may face, based on actual experiences of adolescents and adults with 22q11.2 deletion syndrome.

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2015

http://22q.ca/research/our-published-research/22q11.2 deletion syndrome</http://22q.ca/research/our-published-research/>

McDonald-McGinn DM, Sullivan KE, Marino B, Philip N, Swillen A, Vorstman JA, Zackai EH, Emanuel BS, Vermeesch JR, Morrow BE, Scambler PJ, Bassett AS. (2015) Nature Reviews Disease Primers 1:15071. doi: 10.1038/nrdp.2015.71.

Response to clozapine in a clinically identifiable subtype of schizophrenia: 22q11.2 deletions mediate side effect risk and dosage.

Butcher NJ, Fung WLA, Fitzpatrick L, Guna A, Andrade D, Lang A, Chow EWC, Bassett AS: British Journal of Psychiatry 206:484-491, 2015 (doi:10.1192/bjp.bp.114.151837)

This research explored how individuals with 22q and schizophrenia respond to the medication clozapine, and how it differs from individuals with schizophrenia who do not have 22q. We found that a lower dose of clozapine and using preventative measures can help lower the risks of side effects for individuals with 22q.

Movement disorders and other motor abnormalities in adults with 22q11.2 deletion syndrome

Boot E, Butcher NJ, van Amelsvoort TAMJ, Lang AE, Marras C, Pondal M, Andrade DM, Fung WLA, Bassett AS: American Journal of Medical Genetics Part A 167:639-645, 2015 (doi:10.1002/ajmg.a.36928)

This research looked at five examples of adults with 22q who also had movement disorders, which could range from balance problems to shakiness. Through these examples, we were able to suggest common symptoms and possible causes of these disorders, which can help other health care professionals to provide better care for individuals with 22q.

Practical guidelines for managing adults with 22q11.2 deletion syndrome.

Fung WLA, Butcher NJ, Costain G, Andrade DM, Boot E, Chow EWC, Chung B, Cytrynbaum C, Faghfoury H, Fishman L, García-Miñaúr r S, George SR, Lang AE, Repetto G, Shugar A, Silversides C, Swillen A, van Amelsvoort T, McDonald-McGinn DM, Bassett AS and the International 22q11.2DS Consortium: Genetics in Medicine 17:599-609, 2015 (doi:10.1038/gim.2014.175)

This review is a practice guideline for providing health care to adults with 22q. An international panel of researchers collaborated to contribute to this paper, with topics covering the management of psychiatric and medical conditions, as well as how to identify these conditions in adults with 22q.

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2014

Prevalence of hypocalcaemia and its associated features in 22q11.2 deletion syndrome

Cheung ENM, George SR, Costain GA, Andrade DM, Chow EWC, Silversides CK, Bassett AS: Clinical Endocrinology 81:190-196, 2014 (doi: 10.1111/cen.12466)

This research explored how common low calcium levels are in individuals with 22q, and what the possible causes are. We found that in addition to changes in parathyroid function, low thyroid function may also play a role in causing low calcium levels. Also, individuals with 22q can have low levels of magnesium, which can further lower calcium. Dietary intake such as pop and alcohol were also found to lower calcium levels, and reducing intake of these drinks is an important preventative strategy.

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