Our publications

This section lists all our 22q11.2DS publications from 2011 onwards.

For all 22q11.2DS-related research articles published by Dr. Anne Bassett and our Clinic team members, please perform a PubMed search.

2017

Update on the 22q11.2 deletion syndrome and its relevance to schizophrenia
Van L, Boot E, Bassett AS: Curr Opin Psychiatry. 2017 Feb 21. doi: 10.1097/YCO.0000000000000324. [Epub ahead of print]

Obesity in adults with 22q11.2 deletion syndrome
Voll SL, Boot E, Butcher NJ, Cooper S, Heung T, Chow EW, Silversides CK, Bassett AS: Genet Med. 19(2):204-208, 2017. (doi: 10.1038/gim.2016.98)

Autism Spectrum and psychosis risk in the 22q11.2 deletion syndrome. Findings from a prospective longitudinal study
Fiksinski AM, Breetvelt EJ, Duijff SN, Bassett AS, Kahn RS, Vorstman JA: Schizophr Res. 2017 Jan 21. pii: S0920-9964(17)30044-0. doi: 10.1016/j.schres.2017.01.032. [Epub ahead of print]

Neuropsychiatric aspects of 22q11.2 deletion syndrome: considerations in the prenatal setting
Bassett AS, Costain G, Marshall CR: Prenat Diagn. 37(1) 61-69, 2017. (doi: 10.1002/pd.4935)

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2016

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

Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders
Isles AR, Ingason A, Lowther C, Walters J, Gawlick M, Stöber G, Rees E, Martin J, Little RB, Potter H, Georgieva L, Pizzo L, Ozaki N, Aleksic B, Kushima I, Ikeda M, Iwata N, Levinson DF, Gejman PV, Shi J, Sanders AR, Duan J, Willis J, Sisodiya S, Costain G, Werge TM, Degenhardt F, Giegling I, Rujescu D, Hreidarsson SJ, Saemundsen E, Ahn JW, Ogilvie C, Girirajan SD, Stefansson H, Stefansson K, O'Donovan MC, Owen MJ, Bassett A, Kirov G: PLoS Genet. 12(5):e1005993, 2016. (doi: 10.1371/journal.pgen.1005993)

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)

Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome.
Mlynarski EE, Xie M, Taylor D, Sheridan MB, Guo T, Racedo SE, McDonald-McGinn DM, Chow EW, Vorstman J, Swillen A, Devriendt K, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Philip N, Simon TJ, Roberts AE, Piotrowicz M, Bearden CE, Eliez S, Gothelf D, Coleman K, Kates WR, Devoto M, Zackai E, Heine-Suñer D, Goldmuntz E, Bassett AS, Morrow BE, Emanuel BS: International Chromosome 22q11.2 Consortium: Hum Genet. 135(3):273-285, 2016. (doi: 10.1007/s00439-015-1623-9)

Clinical experience with single-nucleotide polymorphism-based non-invasive prenatal screening for 22q11.2 deletion syndrome.
Gross SJ, Stosic M, McDonald-McGinn DM, Bassett AS, Norvez A, Dhamankar R, Kobara K, Kirkizlar E, Zimmermann B, Wayham N, Babiarz JE, Ryan A, Jinnett KN, Demko Z, Benn P: Ultrasound Obstet Gynecol. 47(2):177-83, 2016. (doi: 10.1002/uog.15754)

Genome-wide rare copy number variations contribute to genetic risk for transposition of the great arteries
Costain G, Lionel AC, Ogura L, Marshall CR, Scherer SW, Silversides CK, Bassett AS: Int J Cardiol. 204:115-21, 2016. (doi: 10.1016/j.ijcard.2015.11.127)

Fetal growth and gestational factors as predictors of schizophrenia in 22q11.2 deletion syndrome.
Van L, Butcher NJ, Costain G, Ogura L, Chow EW, Bassett AS: Genet Med. 18(4):350-5, 2016. (doi: 10.1038/gim.2015.842015)

Rare copy number variations in an adult with transposition of the great arteries emphasize the importance of updated genetic assessments in syndromic congenital cardiac disease.
Costain G, Roche SL, Scherer SW, Silversides CK, Bassett AS: Int J Cardiol. 203:516-8, 2016. (doi: 10.1016/j.ijcard.2015.10.216)

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2015

22q11.2 deletion syndrome
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: Nat Rev Dis Primers. 1:15071, 2015 (doi: 10.1038/nrdp.2015.71)

Whole-Genome Sequencing Suggests Schizophrenia Risk Mechanisms in Humans with 22q11.2 Deletion Syndrome.
Merico D, Zarrei M, Costain G, Ogura L, Alipanahi B, Gazzellone MJ, Butcher NJ, Thiruvahindrapuram B, Nalpathamkalam T, Chow EW, Andrade DM, Frey BJ, Marshall CR, Scherer SW, Bassett AS: G3 (Bethesda) 5(11):2453-61, 2015. (doi: 10.1534/g3.115.021345.)

Comparative mapping of the 22q11.2 deletion region and the potential of simple model organisms.
Guna A, Butcher NJ, Bassett AS: J Neurodev Disord. 7(1):18, 2015. (doi: 10.1186/s11689-015-9113-x)

Pharmacological treatment of 22q11.2 deletion syndrome-related psychoses.
Boot E, Butcher NJ, Vorstman JA, van Amelsvoort TA, Fung WL, Bassett AS: Pharmacopsychiatry. 48(6):219-20, 2015. (doi: 10.1055/s-0035-1554645)

Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome.
Mlynarski EE, Sheridan MB, Xie M, Guo T, Racedo SE, McDonald-McGinn DM, Gai X, Chow EW, Vorstman J, Swillen A, Devriendt K, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Philip N, Simon TJ, Roberts AE, Piotrowicz M, Bearden CE, Eliez S, Gothelf D, Coleman K, Kates WR, Devoto M, Zackai E, Heine-Suñer D, Shaikh TH, Bassett AS, Goldmuntz E, Morrow BE, Emanuel BS; International Chromosome 22q11.2 Consortium: Am J Hum Genet. 96(5):753-64, 2015. (doi: 10.1016/j.ajhg.2015.03.007)

Response to clozapine in a clinically identifiable subtype of schizophrenia.
Butcher NJ, Fung WL, Fitzpatrick L, Guna A, Andrade DM, Lang AE, Chow EW, Bassett AS: Br J Psychiatry. 206(6):484-91, 2015. (doi: 10.1192/bjp.bp.114.151837)

Cognitive decline preceding the onset of psychosis in patients with 22q11.2 deletion syndrome.
Vorstman JA, Breetvelt EJ, Duijff SN, Eliez S, Schneider M, Jalbrzikowski M, Armando M, Vicari S, Shashi V, Hooper SR, Chow EW, Fung WL, Butcher NJ, Young DA, McDonald-McGinn DM, Vogels A, van Amelsvoort T, Gothelf D, Weinberger R, Weizman A, Klaassen PW, Koops S, Kates WR, Antshel KM, Simon TJ, Ousley OY, Swillen A, Gur RE, Bearden CE, Kahn RS, Bassett AS; International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome. JAMA Psychiatry. 72(4):377-85, 2015. (doi: 10.1001/jamapsychiatry.2014.2671)

Movement disorders and other motor abnormalities in adults with 22q11.2 deletion syndrome.
Boot E, Butcher NJ, van Amelsvoort TA, Lang AE, Marras C, Pondal M, Andrade DM, Fung WL, Bassett AS: Am J Med Genet A. 167A(3):639-45, 2015 (doi: 10.1002/ajmg.a.36928)

Reproductive Health Issues for Adults with a Common Genomic Disorder: 22q11.2 Deletion Syndrome.
Chan C, Costain G, Ogura L, Silversides CK, Chow EW, Bassett AS: J Genet Couns. 24(5):810-21, 2015. (doi: 10.1007/s10897-014-9811-7)

Practical guidelines for managing adults with 22q11.2 deletion syndrome.
Fung WL, Butcher NJ, Costain G, Andrade DM, Boot E, Chow EW, Chung B, Cytrynbaum C, Faghfoury H, Fishman L, García-Miñaúr S, George S, Lang AE, Repetto G, Shugar A, Silversides C, Swillen A, van Amelsvoort T, McDonald-McGinn DM, Bassett AS: Genet Med. 17(8):599-609, 2015. (doi: 10.1038/gim.2014.175) Review.

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2014

Chromosomal microarray analysis-a routine clinical genetic test for patients with schizophrenia.
Baker K, Costain G, Fung WL, Bassett AS: Lancet Psychiatry. 1(5):329-31, 2014. (doi: 10.1016/S2215-0366(14)70308-6)

MicroRNA Dysregulation, Gene Networks, and Risk for Schizophrenia in 22q11.2 Deletion Syndrome.
Merico D, Costain G, Butcher NJ, Warnica W, Ogura L, Alfred SE, Brzustowicz LM, Bassett AS: Front Neurol. 5:238, 2014. (doi: 10.3389/fneur.2014.00238)

Prevalence of hypocalcaemia and its associated features in 22q11·2 deletion syndrome.
Cheung EN, George SR, Costain GA, Andrade DM, Chow EW, Silversides CK, Bassett AS: Clin Endocrinol (Oxf). 81(2):190-6, 2014. (doi: 10.1111/cen.12466)

Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: results from the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome.
Schneider M, Debbané M, Bassett AS, Chow EW, Fung WL, van den Bree M, Owen M, Murphy KC, Niarchou M, Kates WR, Antshel KM, Fremont W, McDonald-McGinn DM, Gur RE, Zackai EH, Vorstman J, Duijff SN, Klaassen PW, Swillen A, Gothelf D, Green T, Weizman A, Van Amelsvoort T, Evers L, Boot E, Shashi V, Hooper SR, Bearden CE, Jalbrzikowski M, Armando M, Vicari S, Murphy DG, Ousley O, Campbell LE, Simon TJ, Eliez S; International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome: Am J Psychiatry. 171(6):627-39, 2014. Review.

Individualizing recurrence risks for severe mental illness: epidemiologic and molecular genetic approaches.
Costain G, Bassett AS: Schizophr Bull. 40(1):21-3, 2014. (doi: 10.1093/schbul/sbt133)
This is a comment on another article.

Neonatal hypocalcemia, neonatal seizures, and intellectual disability in 22q11.2 deletion syndrome.
Cheung EN, George SR, Andrade DM, Chow EW, Silversides CK, Bassett AS: Genet Med. 16(1):40-4, 2014. (doi: 10.1038/gim.2013.71)

Perceived burden and neuropsychiatric morbidities in adults with 22q11.2 deletion syndrome.
Karas DJ, Costain G, Chow EW, Bassett AS: J Intellect Disabil Res. 58(2):198-210, 2014. (doi: 10.1111/j.1365-2788.2012.01639.x)

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2013

Prenatal genetic testing with chromosomal microarray analysis identifies major risk variants for schizophrenia and other later-onset disorders.
Costain G, McDonald-McGinn DM, Bassett AS: Am J Psychiatry. 170(12):1498, 2013. (doi: 10.1176/appi.ajp.2013.13070880)

Premorbid adjustment and schizophrenia in individuals with 22q11.2 deletion syndrome.
Yuen T, Chow EW, Silversides CK, Bassett AS: Schizophr Res. 151(1-3):221-5, 2013. (doi: 10.1016/j.schres.2013.10.041)

Association between early-onset Parkinson disease and 22q11.2 deletion syndrome: identification of a novel genetic form of Parkinson disease and its clinical implications.
Butcher NJ, Kiehl TR, Hazrati LN, Chow EW, Rogaeva E, Lang AE, Bassett AS: JAMA Neurol. 70(11):1359-66, 2013. (doi: 10.1001/jamaneurol.2013.3646)

Hippocampal malrotation is associated with chromosome 22q11.2 microdeletion.
Andrade DM, Krings T, Chow EW, Kiehl TR, Bassett AS: Can J Neurol Sci. 40(5):652-6, 2013.

Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays.
Costain G, Lionel AC, Merico D, Forsythe P, Russell K, Lowther C, Yuen T, Husted J, Stavropoulos DJ, Speevak M, Chow EW, Marshall CR, Scherer SW, Bassett AS.
Hum Mol Genet. 22(22):4485-501, 2013. (doi: 10.1093/hmg/ddt297)

Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes.
Delio M, Guo T, McDonald-McGinn DM, Zackai E, Herman S, Kaminetzky M, Higgins AM, Coleman K, Chow C, Jalbrzikowski M, Bearden CE, Bailey A, Vangkilde A, Olsen L, Olesen C, Skovby F, Werge TM, Templin L, Busa T, Philip N, Swillen A, Vermeesch JR, Devriendt K, Schneider M, Dahoun S, Eliez S, Schoch K, Hooper SR, Shashi V, Samanich J, Marion R, van Amelsvoort T, Boot E, Klaassen P, Duijff SN, Vorstman J, Yuen T, Silversides C, Chow E, Bassett A, Frisch A, Weizman A, Gothelf D, Niarchou M, van den Bree M, Owen MJ, Suñer DH, Andreo JR, Armando M, Vicari S, Digilio MC, Auton A, Kates WR, Wang T, Shprintzen RJ, Emanuel BS, Morrow BE: Am J Hum Genet. 92(3):439-47, 2013. (doi: 10.1016/j.ajhg.2013.01.018)

  • Erratum in: Am J Hum Genet. 92(4):637, 2013. Jarlbrzkowski, Maria [corrected to Jalbrzikowski, Maria].

Expression of autism spectrum and schizophrenia in patients with a 22q11.2 deletion.
Vorstman JA, Breetvelt EJ, Thode KI, Chow EW, Bassett AS.
Schizophr Res. 143(1):55-9, 2013. (doi: 10.1016/j.schres.2012.10.010)

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2012

miRNA-mediated risk for schizophrenia in 22q11.2 deletion syndrome.
Brzustowicz LM, Bassett AS: Front Genet. 3:291, 2012. (doi: 10.3389/fgene.2012.00291)

Clinical applications of schizophrenia genetics: genetic diagnosis, risk, and counseling in the molecular era.
Costain G, Bassett AS: Appl Clin Genet. 5:1-18, 2012.

Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.
Herman SB, Guo T, McGinn DM, Blonska A, Shanske AL, Bassett AS, Chow EW, Bowser M, Sheridan M, Beemer F, Devriendt K, Swillen A, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Carpenter C, Zheng X, Johnson J, Chung J, Higgins AM, Philip N, Simon T, Coleman K, Heine-Suner D, Rosell J, Kates W, Devoto M, Zackai E, Wang T, Shprintzen R, Emanuel BS, Morrow BE; International Chromosome 22q11.2 Consortium: Am J Med Genet A. 158A(11):2781-7, 2012. (doi: 10.1002/ajmg.a.35512)

22q11.2 deletion syndrome: attitudes towards disclosing the risk of psychiatric illness.
Martin N, Mikhaelian M, Cytrynbaum C, Shuman C, Chitayat DA, Weksberg R, Bassett AS: J Genet Couns. 21(6):825-34, 2012. (doi: 10.1007/s10897-012-9517-7)

Functional outcomes of adults with 22q11.2 deletion syndrome. Butcher NJ, Chow EW, Costain G, Karas D, Ho A, Bassett AS: Genet Med. 14(10):836-43, 2012. (doi: 10.1038/gim.2012.66).

Early environmental exposures influence schizophrenia expression even in the presence of strong genetic predisposition.
Husted JA, Ahmed R, Chow EW, Brzustowicz LM, Bassett AS: Schizophr Res. 137(1-3):166-8, 2012. (doi: 10.1016/j.schres.2012.02.009)

Caregiver and adult patient perspectives on the importance of a diagnosis of 22q11.2 deletion syndrome.
Costain G, Chow EW, Ray PN, Bassett AS: J Intellect Disabil Res. 56(6):641-51, 2012. (doi: 10.1111/j.1365-2788.2011.01510.x)

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2011

Commentary: Anxiety Disorders and Perceptual Disturbances in Adolescents with 22q11.2 Deletion Syndrome Treated with SSRI: A Case Series.
Bassett AS: J Can Acad Child Adolesc Psychiatry. 20(4):311, 2011.

Sex differences in reproductive fitness contribute to preferential maternal transmission of 22q11.2 deletions.
Costain G, Chow EW, Silversides CK, Bassett AS: J Med Genet. 48(12):819-24, 2011. (doi: 10.1136/jmedgenet-2011-100440)

Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.
Guo T, McDonald-McGinn D, Blonska A, Shanske A, Bassett AS, Chow E, Bowser M, Sheridan M, Beemer F, Devriendt K, Swillen A, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Carpenter C, Zheng X, Johnson J, Chung J, Higgins AM, Philip N, Simon TJ, Coleman K, Heine-Suner D, Rosell J, Kates W, Devoto M, Goldmuntz E, Zackai E, Wang T, Shprintzen R, Emanuel B, Morrow B; International Chromosome 22q11.2 Consortium: Hum Mutat. 32(11):1278-89, 2011. (doi: 10.1002/humu.21568).

Cognitive, behavioural and psychiatric phenotype in 22q11.2 deletion syndrome.
Philip N, Bassett A: Behav Genet. 41(3):403-12, 2011. (doi: 10.1007/s10519-011-9468-z)

Practical guidelines for managing patients with 22q11.2 deletion syndrome.
Bassett AS, McDonald-McGinn DM, Devriendt K, Digilio MC, Goldenberg P, Habel A, Marino B, Oskarsdottir S, Philip N, Sullivan K, Swillen A, Vorstman J; International 22q11.2 Deletion Syndrome Consortium: J Pediatr. 159(2):332-9.e1, 2011. (doi: 10.1016/j.jpeds.2011.02.039)

Association of schizophrenia in 22q11.2 deletion syndrome and gray matter volumetric deficits in the superior temporal gyrus.
Chow EW, Ho A, Wei C, Voormolen EH, Crawley AP, Bassett AS: Am J Psychiatry. 168(5):522-9, 2011. (doi: 10.1176/appi.ajp.2010.10081230).

  • Erratum in: Am J Psychiatry. 168(5):553, 2011

Complex congenital heart disease in unaffected relatives of adults with 22q11.2 deletion syndrome.
Swaby JA, Silversides CK, Bekeschus SC, Piran S, Oechslin EN, Chow EW, Bassett AS: Am J Cardiol. 107(3):466-71, 2011. (doi: 10.1016/j.amjcard.2010.09.045).

Patterns of cardiac and extracardiac anomalies in adults with tetralogy of fallot.
Piran S, Bassett AS, Grewal J, Swaby JA, Morel C, Oechslin EN, Redington AN, Liu PP, Silversides CK: Am Heart J. 161(1):131-7, 2011. (doi: 10.1016/j.ahj.2010.09.015)

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