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Items: 1 to 50 of 186

1.

Neuropsychiatric expression and catatonia in 22q11.2 deletion syndrome: An overview and case series.

Butcher NJ, Boot E, Lang AE, Andrade D, Vorstman J, McDonald-McGinn D, Bassett AS.

Am J Med Genet A. 2018 May 19. doi: 10.1002/ajmg.a.38708. [Epub ahead of print]

PMID:
29777584
2.

Typical features of Parkinson disease and diagnostic challenges with microdeletion 22q11.2.

Boot E, Butcher NJ, 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, Lang AE, Bassett AS; International Research Group on 22q11.2DS-associated Parkinson's Disease.

Neurology. 2018 May 11. pii: 10.1212/WNL.0000000000005660. doi: 10.1212/WNL.0000000000005660. [Epub ahead of print]

PMID:
29752303
3.

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.

Am J Med Genet A. 2018 Apr;176(4):936-944. doi: 10.1002/ajmg.a.38645.

PMID:
29575622
4.

Validation of a microRNA target site polymorphism in H3F3B that is potentially associated with a broad schizophrenia phenotype.

Manley W, Moreau MP, Azaro M, Siecinski SK, Davis G, Buyske S, Vieland V, Bassett AS, Brzustowicz L.

PLoS One. 2018 Mar 12;13(3):e0194233. doi: 10.1371/journal.pone.0194233. eCollection 2018.

5.

The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants.

Reuter MS, Walker S, Thiruvahindrapuram B, Whitney J, Cohn I, Sondheimer N, Yuen RKC, Trost B, Paton TA, Pereira SL, Herbrick JA, Wintle RF, Merico D, Howe J, MacDonald JR, Lu C, Nalpathamkalam T, Sung WWL, Wang Z, Patel RV, Pellecchia G, Wei J, Strug LJ, Bell S, Kellam B, Mahtani MM, Bassett AS, Bombard Y, Weksberg R, Shuman C, Cohn RD, Stavropoulos DJ, Bowdin S, Hildebrandt MR, Wei W, Romm A, Pasceri P, Ellis J, Ray P, Meyn MS, Monfared N, Hosseini SM, Joseph-George AM, Keeley FW, Cook RA, Fiume M, Lee HC, Marshall CR, Davies J, Hazell A, Buchanan JA, Szego MJ, Scherer SW.

CMAJ. 2018 Feb 5;190(5):E126-E136. doi: 10.1503/cmaj.171151.

6.

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. doi: 10.1002/ajmg.a.38612. [Epub ahead of print] Review.

PMID:
29363845
7.

Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2.

Guo T, Diacou A, Nomaru H, 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 Gonzalez F, Repetto GM, Emanuel BS, Bassett AS, Vermeesch JR, Marshall CR, Morrow BE; International Chromosome 22q11.2, International 22q11.2 Brain and Behavior Consortia.

Hum Mol Genet. 2018 Apr 1;27(7):1150-1163. doi: 10.1093/hmg/ddy028.

PMID:
29361080
8.

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 Med. 2017 Nov 30;9(1):105. doi: 10.1186/s13073-017-0488-z.

9.

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.

10.

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. doi: 10.1007/s11920-017-0831-5. Review.

PMID:
28929285
11.

Prevalence of Pathogenic Copy Number Variation in Adults With Pediatric-Onset Epilepsy and Intellectual Disability.

Borlot F, Regan BM, Bassett AS, Stavropoulos DJ, Andrade DM.

JAMA Neurol. 2017 Nov 1;74(11):1301-1311. doi: 10.1001/jamaneurol.2017.1775.

PMID:
28846756
12.

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 Dec;22(12):1664-1672. doi: 10.1038/mp.2017.161. Epub 2017 Aug 1.

PMID:
28761081
13.

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. doi: 10.1176/appi.ajp.2017.16121417. Epub 2017 Jul 28.

14.

The importance of copy number variation in congenital heart disease.

Costain G, Silversides CK, Bassett AS.

NPJ Genom Med. 2016 Sep 14;1:16031. doi: 10.1038/npjgenmed.2016.31.

15.

Epilepsy: Transition from pediatric to adult care. Recommendations of the Ontario epilepsy implementation task force.

Andrade DM, Bassett AS, Bercovici E, Borlot F, Bui E, Camfield P, Clozza GQ, Cohen E, Gofine T, Graves L, Greenaway J, Guttman B, Guttman-Slater M, Hassan A, Henze M, Kaufman M, Lawless B, Lee H, Lindzon L, Lomax LB, McAndrews MP, Menna-Dack D, Minassian BA, Mulligan J, Nabbout R, Nejm T, Secco M, Sellers L, Shapiro M, Slegr M, Smith R, Szatmari P, Tao L, Vogt A, Whiting S, Carter Snead O 3rd.

Epilepsia. 2017 Sep;58(9):1502-1517. doi: 10.1111/epi.13832. Epub 2017 Jul 6.

PMID:
28681381
16.

Copy Number Variation in Tourette Syndrome.

Bassett AS, Scherer SW.

Neuron. 2017 Jun 21;94(6):1041-1043. doi: 10.1016/j.neuron.2017.06.017.

PMID:
28641101
17.

Cerebral dopamine deficiency, plasma monoamine alterations and neurocognitive deficits in adults with phenylketonuria.

Boot E, Hollak CEM, Huijbregts SCJ, Jahja R, van Vliet D, Nederveen AJ, Nieman DH, Bosch AM, Bour LJ, Bakermans AJ, Abeling NGGM, Bassett AS, van Amelsvoort TAMJ, van Spronsen FJ, Booij J.

Psychol Med. 2017 May 29:1-12. doi: 10.1017/S0033291717001398. [Epub ahead of print]

PMID:
28552082
18.

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.

PMID:
28448680
19.

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. 2017 Apr 21;12(4):e0173944. doi: 10.1371/journal.pone.0173944. eCollection 2017.

20.

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 EWC, Masellis M, Strafella AP, Lang AE, Bassett AS.

Brain. 2017 May 1;140(5):1371-1383. doi: 10.1093/brain/awx053.

PMID:
28369257
21.

Update on the 22q11.2 deletion syndrome and its relevance to schizophrenia.

Van L, Boot E, Bassett AS.

Curr Opin Psychiatry. 2017 May;30(3):191-196. doi: 10.1097/YCO.0000000000000324. Review.

PMID:
28230630
22.

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 JAS.

Schizophr Res. 2017 Oct;188:59-62. doi: 10.1016/j.schres.2017.01.032. Epub 2017 Jan 21.

PMID:
28119035
23.

Neuropsychiatric aspects of 22q11.2 deletion syndrome: considerations in the prenatal setting.

Bassett AS, Costain G, Marshall CR.

Prenat Diagn. 2017 Jan;37(1):61-69. doi: 10.1002/pd.4935. Epub 2016 Nov 14.

24.

De novo large rare copy-number variations contribute to conotruncal heart disease in Chinese patients.

Mak CCY, Chow PC, Liu APY, Chan KYK, Chu YWY, Mok GTK, Leung GKC, Yeung KS, Chau AKT, Lowther C, Scherer SW, Marshall CR, Bassett AS, Chung BHY.

NPJ Genom Med. 2016 Sep 14;1:16033. doi: 10.1038/npjgenmed.2016.33. eCollection 2016.

25.

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. 2017 Feb;19(2):204-208. doi: 10.1038/gim.2016.98. Epub 2016 Aug 18.

26.

Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression.

Lowther C, Speevak M, Armour CM, Goh ES, Graham GE, Li C, Zeesman S, Nowaczyk MJ, Schultz LA, Morra A, Nicolson R, Bikangaga P, Samdup D, Zaazou M, Boyd K, Jung JH, Siu V, Rajguru M, Goobie S, Tarnopolsky MA, Prasad C, Dick PT, Hussain AS, Walinga M, Reijenga RG, Gazzellone M, Lionel AC, Marshall CR, Scherer SW, Stavropoulos DJ, McCready E, Bassett AS.

Genet Med. 2017 Jan;19(1):53-61. doi: 10.1038/gim.2016.54. Epub 2016 May 19.

27.

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]

PMID:
26914835
28.

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. 2016 Mar;135(3):273-85. doi: 10.1007/s00439-015-1623-9. Epub 2016 Jan 7.

29.

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. 2016 Feb 1;204:115-21. doi: 10.1016/j.ijcard.2015.11.127. Epub 2015 Nov 22.

PMID:
26655555
30.

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. 2016 Jan 15;203:516-8. doi: 10.1016/j.ijcard.2015.10.216. Epub 2015 Oct 29. No abstract available.

PMID:
26551885
31.

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. 2016 Feb;47(2):177-83. doi: 10.1002/uog.15754. Epub 2016 Jan 5.

32.

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). 2015 Sep 16;5(11):2453-61. doi: 10.1534/g3.115.021345.

33.

Chromosomal microarray analysis-a routine clinical genetic test for patients with schizophrenia.

Baker K, Costain G, Fung WL, Bassett AS.

Lancet Psychiatry. 2014 Oct;1(5):329-31. doi: 10.1016/S2215-0366(14)70308-6. Epub 2014 Sep 5. No abstract available.

PMID:
26360988
34.

Comparative mapping of the 22q11.2 deletion region and the potential of simple model organisms.

Guna A, Butcher NJ, Bassett AS.

J Neurodev Disord. 2015;7(1):18. doi: 10.1186/s11689-015-9113-x. Epub 2015 Jul 1.

35.

Pharmacological treatment of 22q11.2 deletion syndrome-related psychoses.

Boot E, Butcher NJ, Vorstman JA, van Amelsvoort TA, Fung WL, Bassett AS.

Pharmacopsychiatry. 2015 Sep;48(6):219-20. doi: 10.1055/s-0035-1554645. Epub 2015 Jun 19.

PMID:
26091278
36.

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. 2016 Apr;18(4):350-5. doi: 10.1038/gim.2015.84. Epub 2015 Jun 18.

PMID:
26087175
37.

Reproductive genetic testing and human genetic variation in the era of genomic medicine.

Lowther C, Costain G, Bassett AS.

Am J Bioeth. 2015;15(6):25-6. doi: 10.1080/15265161.2015.1028661. No abstract available.

38.

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. 2015 May 7;96(5):753-64. doi: 10.1016/j.ajhg.2015.03.007. Epub 2015 Apr 16.

39.

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. 2015 Jun;206(6):484-91. doi: 10.1192/bjp.bp.114.151837. Epub 2015 Mar 5.

40.

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. 2015 Apr;72(4):377-85. doi: 10.1001/jamapsychiatry.2014.2671.

41.

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. 2015 Mar;167A(3):639-45. doi: 10.1002/ajmg.a.36928. Epub 2015 Feb 13.

42.

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. 2015 Oct;24(5):810-21. doi: 10.1007/s10897-014-9811-7. Epub 2015 Jan 13.

43.

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. 2015 Aug;17(8):599-609. doi: 10.1038/gim.2014.175. Epub 2015 Jan 8. Review.

44.

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. 2015 Nov 19;1:15071. doi: 10.1038/nrdp.2015.71. Review.

45.

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. 2014 Nov 21;5:238. doi: 10.3389/fneur.2014.00238. eCollection 2014.

46.

Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature.

Lowther C, Costain G, Stavropoulos DJ, Melvin R, Silversides CK, Andrade DM, So J, Faghfoury H, Lionel AC, Marshall CR, Scherer SW, Bassett AS.

Genet Med. 2015 Feb;17(2):149-57. doi: 10.1038/gim.2014.83. Epub 2014 Jul 31. Review.

47.

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.

Biol Psychiatry. 2015 Jan 15;77(2):158-66. doi: 10.1016/j.biopsych.2014.05.011. Epub 2014 May 29.

48.

Adult neuropsychiatric expression and familial segregation of 2q13 duplications.

Costain G, Lionel AC, Fu F, Stavropoulos DJ, Gazzellone MJ, Marshall CR, Scherer SW, Bassett AS.

Am J Med Genet B Neuropsychiatr Genet. 2014 Jun;165B(4):337-44. doi: 10.1002/ajmg.b.32236. Epub 2014 May 8.

49.

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). 2014 Aug;81(2):190-6. doi: 10.1111/cen.12466. Epub 2014 May 27.

50.

Adult expression of a 3q13.31 microdeletion.

Lowther C, Costain G, Melvin R, Stavropoulos DJ, Lionel AC, Marshall CR, Scherer SW, Bassett AS.

Mol Cytogenet. 2014 Mar 20;7(1):23. doi: 10.1186/1755-8166-7-23.

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