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.


All-cause mortality and survival in adults with 22q11.2 deletion syndrome.
Van L, Heung T, Graffi J, Ng E, Malecki SL, Van Mil S, Boot E, Corral M, Chow EWC, Hodgkinson KA, Silversides CK, Bassett AS
Genetics in Medicine, (pages 1-8) 2019, e-published 5 April 2019
doi: 10.1038/s41436-019-0509-y

Low prevalence of substance use in people with 22q11.2 deletion syndrome.
Vingerhoets C, van Oudenaren MJF, Bloemen OJN, Boot E, van Duin EDA, Evers LJM, Fiksinski AM, Breetvelt EJ, Palmer LD, Vergaelen E, Vogels A, Meijer C, Booij J; Genetic Risk and Outcome of Psychosis (GROUP) investigators, de Haan L, Swillen A, Vorstman JAS, Bassett AS, van Amelsvoort TAMJ
British Journal of Psychiatry, (pages 1-7) 2019, e-published 3 January 2019 doi:10.1192/bjp.2018.258

22q11.2 deletion syndrome-associated Parkinson’s disease.
Boot E, Bassett AS, Marras C.
Movement Disorders Clinical Practice 6:11-16, 2019

Neurocognition and adaptive functioning in a genetic high risk model of schizophrenia.
Fiksinski AM, Breetvelt EJ, Lee Y-J, Boot E, Butcher NJ, Palmer L, Chow EWC, Kahn RS, Vorstman JAS, Bassett AS
Psychological Medicine 49:1047-1054, 2019

Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot
Reuter MS, Jobling R, Chaturvedi RR, Manshaei R, Costain G, Heung T, Curtis M, Hosseini SM, Liston E, Lowther C, Oechslin E, Sticht H, Thiruvahindrapuram B, Mil SV, Wald RM, Walker S, Marshall CR, Silversides CK, Scherer SW, Kim RH, Bassett AS.
Genet Med. 2019 Apr;21(4):1001-1007. Epub 2018 Sep 20.
doi: 10.1038/s41436-018-0260-9.
See the UHN Newsroom article

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Periventricular heterotopia in 22q11.2 deletion and frontal lobe migration
Rezazadeh A, Bercovici E, Kiehl TR, Chow EW, Krings T4, Bassett AS,5, Andrade DM.
Ann Clin Transl Neurol. 2018 Sep 23;5(11):1314-1322. eCollection 2018 Nov.
doi: 10.1002/acn3.641.

A mouse model of 22q11.2 deletions: Molecular and behavioral signatures of Parkinson's disease and schizophrenia.
Sumitomo A, Horike K, Hirai K, Butcher N, Boot E, Sakurai T, Nucifora FC Jr, Bassett AS, Sawa A, Tomoda T.
Sci Adv. 2018 Aug 15;4(8):eaar6637. eCollection 2018 Aug.
doi: 10.1126/sciadv.aar6637.

Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects.
Zhao Y, Guo T, Fiksinski A, Breetvelt E, McDonald-McGinn DM, Crowley TB, Diacou A, Schneider M, Eliez S, Swillen A, Breckpot J, Vermeesch J, Chow EWC, Gothelf D, Duijff S, Evers R, van Amelsvoort TA, van den Bree M, Owen M, Niarchou M, Bearden CE, Ornstein C, Pontillo M, Buzzanca A, Vicari S, Armando M, Murphy KC, Murphy C, Garcia-Minaur S, Philip N, Campbell L, Morey-Cañellas J, Raventos J, Rosell J, Heine-Suner D, Shprintzen RJ, Gur RE, Zackai E, Emanuel BS, Wang T, Kates WR, Bassett AS, Vorstman JA, Morrow BE; International 22q11.2 Brain and Behavior Consortium.
Am J Med Genet A. 2018;176(10):2172-2181.
doi: 10.1002/ajmg.a.40359.

Neuropsychiatric expression and catatonia in 22q11.2 deletion syndrome: an overview and case series
Butcher NJ, Boot E, Lang AE, Andrade D, Vorstman JA, Bassett AS
American Journal of Medical Genetics A (pages 1-14), 2018, e-published 19 May 2018

Large-scale mapping of cortical alterations in 22q11.2 deletion syndrome: Convergence with idiopathic psychosis and effects of deletion size
Sun D, Ching CRK, Lin A, Forsyth JK, Kushan L, Vajdi A, Jalbrzikowski M., Hansen L, Villalon-Reina JE, Qu X, Jonas RK, van Amelsvoort T, Bakker G, Kates WR, Antshel KM, Fremont W, Campbell LE, McCabe KL, Daly E, Gudbrandsen M, Murphy CM, Murphy D, Craig M, Vorstman J, Fiksinski A, Koops S, Ruparel K, Roalf DR, Gur RE, Schmitt JE, Simon TJ, Goodrich-Hunsaker NJ, Durdle CA, Bassett AS, Chow EWC, Butcher N, Vila-Rodriquez F, Doherty J, Cunningham A, van den Bree MBM, Linden DEJ, Moss H, Owen MJ, Murphy KC, McDonald-McGinn DM, Emanuel B, van Erp TGM, Turner JA, Thompson PM, Bearden CE
Molecular Psychiatry (pp 1-13), e-published 13 June 2018

Primary lymphedema and other lymphatic anomalies are associated with 22q11.2 deletion syndrome
Unolt M, Barry J, Digilio MC, Marino B, Bassett A, Oechslin E, Low DW, Belasco JB, Kallish S, Sullivan K, Zackai EH, McDonald-McGinn DM.
Eur J Med Genet. 2018 Feb 12. pii: S1769-7212(17)30681-X. [Epub ahead of print]
doi: 10.1016/j.ejmg.2018.02.006.

Typical features of Parkinson's disease and diagnostic challenges with microdeletion 22q11.2
Boot E, Butcher NJ, Sean Udow S, Marras C, Mok KY, Kaneko S, Barrett MJ, Prontera P, Berman BD, Masellis M, Dufournet B, Nguyen K, Charles P, Mutez E, Danaila T, Jacquette A, Colin O, Drapier S, Borg M, Fiksinski AM, Vergaelen E, Swillen A, Vogels A, Plate A, Perandones C, Gasser T, Clerinx K, Bourdain F, Mills K, Williams NM, Wood NW, Booij J, Tambasco N, Repetto GM, Fritsch R, Tinselboer BM, Vorstman JA, Pellene LA, Reich SG, Schulte C, Lang AE, Bassett AS
Neurology 90:e2059-e2067, 2018

Non-pharmacological treatment of psychiatric disorders in individuals with 22q11.2 deletion syndrome; a systematic review
Buijs PCM, Bassett AS, Boot E.
Am J Med Genet A. 2018 Jan 24. Review. [Epub ahead of print]
doi: 10.1002/ajmg.a.38612.

Deletion size analysis of 1,680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2
Guo T, Diacou A, Hiroko N, McDonald-McGinn DM, Hestand M, Demaerel W, Zhang L, Zhao Y, Ujueta F, Shan J, Montagna C, Zheng D, Crowley TB, Kushan-Wells L, Bearden CE, Kates WR, Gothelf D, Schneider M, Eliez S, Breckpot J, Swillen A, Vorstman J, Zackai E, Benavides FG, Repetto GM, Emanuel BS, Bassett AS, Vermeesch JR, Marshall CR, Morrow BE; International Chromosome 22q11.2 and International 22q11.2 Brain and Behavior Consortia.
Hum Mol Genet. 2018 Jan 18. [Epub ahead of print]
doi: 10.1093/hmg/ddy028.

Elucidating the diagnostic odyssey of 22q11.2 deletion syndrome
Palmer LD, Butcher NJ, Boot E, Hodgkinson KA, Heung T, Chow EWC, Guna A, Crowley TB, Zackai E, McDonald-McGinn DM, Bassett AS
American Journal of Medical Genetics A 176:936-944, 2018
doi: 10.1002/ajmga.38645

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Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome.
Bassett AS, Lowther C, Merico D, Costain G, Chow EWC, van Amelsvoort T, McDonald-McGinn D, Gur RE, Swillen A, Van den Bree M, Murphy K, Gothelf D, Bearden CE, Eliez S, Kates W, Philip N, Sashi V, Campbell L, Vorstman J, Cubells J, Repetto GM, Simon T, Boot E, Heung T, Evers R, Vingerhoets C, van Duin E, Zackai E, Vergaelen E, Devriendt K, Vermeesch JR, Owen M, Murphy C, Michaelovosky E, Kushan L, Schneider M, Fremont W, Busa T, Hooper S, McCabe K, Duijff S, Isaev K, Pellecchia G, Wei J, Gazzellone MJ, Scherer SW, Emanuel BS, Guo T, Morrow BE, Marshall CR; International 22q11.2DS Brain and Behavior Consortium.
Am J Psychiatry. 2017 Nov 1;174(11):1054-1063. Epub 2017 Jul 28.
doi: 10.1176/appi.ajp.2017.16121417.

Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3.
Guo T, Repetto GM, McDonald McGinn DM, Chung JH, Nomaru H, Campbell CL, Blonska A, Bassett AS, Chow EWC, Mlynarski EE, Swillen A, Vermeesch J, Devriendt K, Gothelf D, Carmel M, Michaelovsky E, Schneider M, Eliez S, Antonarakis SE, Coleman K, Tomita-Mitchell A, Mitchell ME, Digilio MC, Dallapiccola B, Marino B, Philip N, Busa T, Kushan-Wells L, Bearden CE, Piotrowicz M, Hawuła W, Roberts AE, Tassone F, Simon TJ, van Duin EDA, van Amelsvoort TA, Kates WR, Zackai E, Johnston HR, Cutler DJ, Agopian AJ, Goldmuntz E, Mitchell LE, Wang T, Emanuel BS, Morrow BE; International 22q11.2 Consortium/Brain and Behavior Consortium.
Circ Cardiovasc Genet. 2017 Oct;10(5). pii: e001690.
doi: 10.1161/CIRCGENETICS.116.001690.

Genomic Disorders in Psychiatry-What Does the Clinician Need to Know?
Lowther C, Costain G, Baribeau DA, Bassett AS.
Curr Psychiatry Rep. 2017 Sep 20;19(11):82. Review.
doi: 10.1007/s11920-017-0831-5.

A neurogenetic model for the study of schizophrenia spectrum disorders: the International 22q11.2 Deletion Syndrome Brain Behavior Consortium.
Gur RE, Bassett AS, McDonald-McGinn DM, Bearden CE, Chow E, Emanuel BS, Owen M, Swillen A, Van den Bree M, Vermeesch J, Vorstman JAS, Warren S, Lehner T, Morrow B.
Mol Psychiatry. 2017 Aug 1.
doi: 10.1038/mp.2017.161. [Epub ahead of print]

22q11.2 deletion syndrome lowers seizure threshold in adult patients without epilepsy.
Wither RG, Borlot F, MacDonald A, Butcher NJ, Chow EWC, Bassett AS, Andrade DM.
Epilepsia. 2017 Jun;58(6):1095-1101.
doi: 10.1111/epi.13748. Epub 2017 Apr 27.

Whole-genome sequencing suggests mechanisms for 22q11.2 deletion-associated Parkinson's disease
Butcher NJ, Merico D, Zarrei M, Ogura L, Marshall CR, Chow EWC, Lang AE, Scherer SW, Bassett AS.
PLoS One. 12(4):e0173944, 2017
doi: 10.1371/journal.pone.0173944

Neuroimaging and clinical features in adults with a 22q11.2 deletion at risk of Parkinson's disease
Butcher NJ, Marras C, Pondal M, Rusjan P, Boot E, Christopher L, Repetto GM, Fritsch R, Chow EW, Masellis M, Strafella AP, Lang AE, Bassett AS.
Brain 2017 Mar 24.
doi: 10.1093/brain/awx053 [Epub ahead of print]

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

Periventricular nodular heterotopia in 22q11.2 deletion syndrome.
Baharnoori M, Mandell DM, Andrade DM, Chow EWC, Bassett AS, Kiehl TR
Human Pathology: Case Reports 9:55-57, 2017

Nested inversion polymorphisms predispose to chromosome 22q11.2 rearrangements.
Demaerel W, Hestand MS, Vergaelen E, Swillen A, López-Sánchez M, Pérez-Jurado LA, McDonald-McGinn DM, Emanuel BS, Morrow BE, Breckpot J, Devriendt K, Vermeesch JR, on behalf of the International 22q11.2 Brain and Behavior Consortium
American Journal of Human Genetics, 101:616-622, 2017
doi: 10.1016/j.ajhg.2017.09.002

EMapper and PECaller provide a simplified approach to whole-genome sequencing.
Johnston HR, Chopra P, Wingo TS, Patel V; International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome, Epstein MP, Mulle JG, Warren ST, Zwick ME, Cutler DJ
Proceedings of the National Academy of Sciences USA 114:E1923-E1932, 2017
doi: 10.1073/pnas.1618065114

Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia.
Lowther C, Merico D, Costain G, Waserman J, Boyd K, Noor A, Speevak M, Stavropoulos DJ, Wei J, Lionel AC, Marshall CR, Scherer SW, Bassett AS.
Genome Medicine, 9:105, 2017, e-published 30 November 2017, pp. 1-13

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. 30:416-418, 2017.
doi: 10.1111/jar.12250

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The importance of copy number variation in congenital heart disease
Costain G, Silversides CK, Bassett AS
Genomic Medicine: 1, 16031, 2016.

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

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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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.

Copy number variable microRNAs in schizophrenia and their neurodevelopmental gene targets.
Warnica W, Merico D, Costain G, Alfred SE, Wei J, Marshall CR, Scherer SW, Bassett AS
Biological Psychiatry 77:158–166, 2015
doi: 10.1016/j.biopsych.2014.05.01

Reproductive genetic testing and human genetic variation in the era of genomic medicine.
Lowther C, Costain G, Bassett AS.
American Journal of Bioethics 15:25-26, 2015

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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.
doi: 10.1176/appi.ajp.2013.13070864

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

Evaluating genetic counseling for individuals with schizophrenia in the molecular age.
Costain G, Esplen MJ, Toner B, Scherer SW, Meschino WS, Hodgkinson K, Bassett AS
Schizophrenia Bulletin 40:78-87, 2014

Evaluating genetic counseling for family members of individuals with schizophrenia in the molecular age.
Costain G, Esplen MJ, Toner B, Hodgkinson KA, Bassett AS
Schizophrenia Bulletin 40:88-99, 2014
doi: 10.1093/schbul/sbs124

Reproductive fitness and genetic transmission of tetralogy of Fallot in the molecular age
Chin-Yee NJ, Costain G, Swaby J-A M, Silversides CK, Bassett AS
Circulation: Cardiovascular Genetics 7:102-109, 2014

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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.
PMID: 23968937

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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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.
PMID: 23144566

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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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

Parental origin, DNA structure, and the schizophrenia spectrum. (Editorial)
Bassett AS
American Journal of Psychiatry 168:350-353, 2011
doi: 10.1176/appi.ajp.2011.11010173

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