The Dalglish Family 22q Clinic

Young adults with a 22q11.2 microdeletion and the cost of aging with complexity in a population-based context
Malecki SL, Heung T, Wodchis WP, Saskin R, Palma L, Verma AA, Bassett AS
Genet Med . 2024 Jan 31:101088. Online ahead of print.
DOI: 10.1016/j.gim.2024.101088.

Source-based morphometry reveals structural brain pattern abnormalities in 22q11.2 deletion syndrome
Ge R, Ching CRK, Bassett AS, Kushan L, Antshel KM, van Amelsvoort T, Bakker G, Butcher NJ, Campbell LE, Chow EWC, Craig MC, Crossley NA, Cunningham A, Daly E, Doherty JL, Durdle CA, Emanuel BS, Fiksinski A, Forsyth JK, Fremont W, Goodrich-Hunsaker NJ, Gudbrandsen M, Gur RE, Jalbrzikowski M, Kates WR, Lin A, Linden DEJ, McCabe KL, McDonald-McGinn DM, Moss H, Murphy DG, Murphy KC, Owen MJ, Villalon-Reina JE, Repetto GM, Roalf DR, Ruparel K, Schmitt JE, Schuite-Koops S, Angkustsiri K, Sun D, Vajdi A, van den Bree M, Vorstman J, Thompson PM, Vila-Rodriguez F, Bearden CE, for the ENIGMA-CNV Working Group and ENIGMA 22q11.2 Deletion Syndrome Working Group.
Human Brain Mapping 45:e26553 (pages 1-15), 2024
DOI: 10.1002/hbm.26553

Clinically Relevant Genetic Considerations for Patients With Tetralogy of Fallot
Bassett AS, Reuter MS, Malecki S, Silversides C, Oechslin E.
CJC Pediatr Congenit Heart Dis. 2023 Oct 10;2(6Part A):426-439.
doi: 10.1016/j.cjcpc.2023.10.002.
Summary

Polygenic risk for triglyceride levels in the presence of a high impact rare variant
Ying S, Heung T, Thiruvahindrapuram B, Engchuan W, Yin Y, Blagojevic C, Zhang Z, Hegele RA, Yuen RKC, Bassett AS.
BMC Med Genomics. 2023 Nov 8;16(1):281.
doi: 10.1186/s12920-023-01717-2.
Summary

Prenatal versus Postnatal Diagnosis of 22q11.2 Deletion Syndrome: Cardiac and Non-Cardiac Outcomes through 1 Year of Age
Freud LR, Galloway S, Crowley TB, Moldenhauer J, Swillen A, Breckpot J, Borrell A, Vora NL, Cuneo B, Hoffman H, Gilbert L, Nowakowska B, Geremek M, Kutkowska-Kaźmierczak A, Vermeesch JR, Devriendt K, Busa T, Sigaudy S, Vigneswaran T, Simpson JM, Dungan J, Gotteiner N, Gloning KP, Digilio MC, Unolt M, Putotto C, Marino B, Repetto G, Fadic M, Garcia-Minaur S, Buil AA, Thomas MA, Fruitman D, Beecroft T, Hui PW, Oskarsdottir S, Bradshaw R, Criebaum A, Norton ME, Lee T, Geiger M, Dunnington L, Isaac J, Wilkins-Haug L, Hunter L, Izzi C, Toscano M, Ghi T, McGlynn J, Grati FR, Emanuel BS, Gaiser K, Gaynor JW, Goldmuntz E, McGinn DE, Schindewolf E, Tran O, Zackai EH, Yan Q, Bassett A, Wapner R, McDonald-McGinn DM.
Am J Obstet Gynecol. 2023 Sep 15:S0002-9378(23)00611-7. Epub ahead of print.
doi: 10.1016/j.ajog.2023.09.005.

An online survey to understand the needs of caregivers of family members with 22q11 deletion syndrome.
Cosman T, Finless A, Rideout AL, Lingley-Pottie P, Palmer LD, Shugar A, McDonald-McGinn DM, Swillen A, McGrath PJ, Bassett AS, Cytrynbaum C, Orr M, Meier S.
Journal of Intellectual Disabilities Research, 67(9):860-868, 2023.
DOI: 10.1111/jir.13061

Approaches to studying the impact of 22q11.2 copy number variants.
Bassett AS, McDonald-McGinn DM, Boot E, Óskarsdóttir S, Yuen RKC.
American Journal of Human Genetics 110:1216-1218, 2023
DOI: 10.1016/j.ajhg.2023.05.008

Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS
Zhao Y, Wang Y, Shi L, McDonald-McGinn DM, Crowley TB, McGinn DE, Tran OT, Miller D, Lin JR, Zackai E, Johnston HR, Chow EWC, Vorstman JAS, Vingerhoets C, van Amelsvoort T, Gothelf D, Swillen A, Breckpot J, Vermeesch JR, Eliez S, Schneider M, van den Bree MBM, Owen MJ, Kates WR, Repetto GM, Shashi V, Schoch K, Bearden CE, Digilio MC, Unolt M, Putotto C, Marino B, Pontillo M, Armando M, Vicari S, Angkustsiri K, Campbell L, Busa T, Heine-Suñer D, Murphy KC, Murphy D, García-Miñaúr S, Fernández L; International 22q11.2 Brain and Behavior Consortium (IBBC); Zhang ZD, Goldmuntz E, Gur RE, Emanuel BS, Zheng D, Marshall CR, Bassett AS, Wang T, Morrow BE
npj Genomic Medicine 8:17 (pages 1-15), 2023
DOI: 10.1038/s41525-023-00363-y

Adult-onset obstructive sleep apnea and pediatric pharyngoplasty in 22q11.2 deletion syndrome
Cancelliere S, Heung T, Fischbach S, Klaiman P, Bassett, AS
Sleep Medicine Volume 104, Pages 49-55, 2023
DOI: 10.1016/j.sleep.2023.02.010
Summary

Rare coding variants as risk modifiers of the 22q11.2 deletion implicate postnatal cortical development in syndromic schizophrenia.
Lin J-R, Zhao Y, Jabalameli MR, Nguyen N, Mitra J, International 22q11.2DS Brain and Behavior Consortium, Swillen A, Vorstman JAS, Chow EWC, van den Bree M, Emanuel BS, Vermeesch JR, Owen MJ, Williams NM, Bassett AS, McDonald-McGinn DM, Gur RE, Bearden CE, Morrow BE, Lachman HM, Zhang ZD.
Molecular Psychiatry, 2023, (pages 1-10) e-published 3 March 2023 ahead of print
DOI: 10.1038/s41380-023-02009-y

Gathering the Stakeholder’s Perspective: Experiences and Opportunities in Rare Genetic Disease Research
White LK, Crowley TB, Finucane B, McClellan EJ, Donoghue S, Garcia-Minaur S, Repetto GM, Fischer M, Jacquemont S, Gur RE, Maillard AM, Donald KA, Bassett AS, Swillen A, McDonald-McGinn DM
Genes 14:169 (pages 1-13), 2023
DOI: 10.3390/genes14010169

Clinical genetics of schizophrenia and related neuropsychiatric disorders (Commentary).
Bassett AS
Psychiatry Research 319:114992 (pages 1-3), 2023
DOI: 10.1016/j.psychres.2022.114992

Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome
Boot E, Óskarsdóttir S, Loo JCY, Crowley TB, Orchanian-Cheff A, Andrade DM, Arganbright JM, Castelein RM, Cserti-Gazdewich C, de Reuver S, Fiksinski AM, Klingberg G, Lang AE, Mascarenhas MR, Moss EM, Nowakowska BA, Oechslin E, Palmer L, Repetto GM, Reyes NGD, Schneider M, Silversides C, Sullivan KE, Swillen A, van Amelsvoort TAMJ, Van Batavia JP, Vingerhoets C, McDonald-McGinn DM, Bassett AS.
Genet Med. 25(3): 100344, 2023.
DOI: 10.1016/j.gim.2022.11.012.
Introduction

Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome
Óskarsdóttir S, Boot E, Crowley TB, Loo JCY, Arganbright JM, Armando M, Baylis AL, Breetvelt EJ, Castelein RM, Chadehumbe M, Cielo CM, de Reuver S, Eliez S, Fiksinski AM, Forbes BJ, Gallagher E, Hopkins SE, Jackson OA, Levitz-Katz L, Klingberg G, Lambert MP, Marino B, Mascarenhas MR, Moldenhauer J, Moss EM, Nowakowska BA, Orchanian-Cheff A, Putotto C, Repetto GM, Schindewolf E, Schneider M, Solot CB, Sullivan KE, Swillen A, Unolt M, Van Batavia JP, Vingerhoets C, Vorstman J, Bassett AS, McDonald-McGinn DM.
Genet Med. 25(3): 100338, 2023
DOI: 10.1016/j.gim.2022.11.006.
Introduction

Prenatal screening and diagnostic considerations for 22q11.2 microdeletions
Blagowidow N, Nowakowska B, Schindewolf E, Grati FR, Putotto C, Breckpot J, Swillen A, Crowley TB, Loo JCY, Lairson LA, Óskarsdóttir S, Boot E, Garcia-Minaur S, Cristina Digilio M, Marino B, Coleman B, Moldenhauer JS, Bassett AS, McDonald-McGinn DM.
Genes (Basel). 14(1):160, 2023
DOI: 10.3390/genes14010160.
Introduction

Elevated regional cerebral blood flow in adults with 22q11.2 deletion syndrome.
Pasternak M, Shirzadi Z, Mutsaerts HJMM, Boot E, Butcher NJ, MacIntosh BJ, Heung T, Bassett AS, Masellis M. (ASB and MM are co-senior authors)
World J Biol Psychiatry. 24(3):260-265, 2023
DOI: 10.1080/15622975.2022.2093969

Rare tandem repeat expansions associate with genes involved in synaptic and neuronal signaling functions in schizophrenia
Wen J, Trost B, Engchuan W, Halvorsen M, Pallotto LM, Mitina A, Ancalade N, Farrell M, Backstrom I, Guo K, Pellecchia G, Thiruvahindrapuram B, Giusti-Rodriguez P, Rosen JD, Li Y, Won H, Magnusson PKE, Gyllensten U, Bassett AS, Hultman CM, Sullivan PF, Yuen RKC, Szatkiewicz JP.
Mol Psychiatry. 2023 Jan;28(1):475-482.
doi: 10.1038/s41380-022-01857-4

Adult height, 22q11.2 deletion extent, and short stature in 22q11.2 deletion syndrome.
Heung T, Conroy B, Malecki S, Ha J, Boot E, Corral M, Bassett AS
Genes 13:2038 (pages 1-8), 2022
doi: 10.3390/genes13112038

Reproductive outcomes in adults with 22q11.2 deletion syndrome.
Palmer LD, McManus Z, Heung T, McAlpine G, Blagojevic C, Corral M, Bassett AS
[LDP, ZM, and TH contributed equally to this work]
Genes 13:2126 (pages 1-9), 2022
doi: 10.3390/genes13112126

Influence of parent-of-origin on intellectual outcomes in the chromosome 22q11.2 deletion syndrome.
McGinn DE, Crowley TB, Heung T, Tran O, Moss E, Zackai EH, Emanuel BS, Chow EWC, Morrow B, Swillen A, Bassett AS, McDonald-McGinn D [AS, ASB, and DMM are Co-senior authors]
Genes 13:1800 (pages 1-7), 2022
doi: 10.3390/genes13101800

Hypertriglyceridemia in young adults with a 22q11.2 microdeletion.
Blagojevic C, Heung T, Malecki S, Ying S, Cancelliere S, Hegele RA, Bassett AS.
European Journal of Endocrinology 187:91-99, 2022
doi: 10.1530/EJE-21-1104

Genome-wide tandem repeat expansions contribute to schizophrenia risk.
Mojarad BA, Engchuan W, Trost B, Backstrom I, Yin Y, Thiruvahindrapuram B, Pallotto L, Mitina A, Khan M, Pellecchia G, Haque B, Guo K, Heung T, Costain G, Scherer SW, Marshall CR, Pearson CE, Bassett AS, Yuen RKC. (ASB and RKCY are co-senior authors)
Molecular Psychiatry. Immediate Communication, (pages 1-7) e-published 12 May 2022
doi: 10.1038/s41380-022-01575-x

The COVID-19 pandemic’s impact on worry and medical disruptions reported by individuals with chromosome 22q11.2 copy number variants and their caregivers.
White LK, Crowley TB, Finucane B, Garcia-Minaur S, Repetto GM, van den Bree M, Fischer M, Jacquemont S, Barzilay R, Maillard AM, Donald KA, Gur RE, Bassett AS, Swillen A, McDonald-McGinn DM.
Journal of Intellectual Disability Research 66:313–322, 2022
doi: 10.1111/jir.12918

Genes To Mental Health (G2MH): A framework to map the combined effects of rare and common variants on dimensions of cognition and psychopathology
Jacquemont S, Huguet G, Klein M, Chawner SJRA, Donald KA, van den Bree MBM, Sebat J, Ledbetter DH, Constantino JN, Earl RK, McDonald-McGinn DM, van Amelsvoort T, Swillen A, O’Donnell-Luria AH, Glahn DC, Almasy L, Eichler EE, Scherer SW, Robinson E, Bassett AS, Martin CL, Finucane B, Vorstman JAS, Bearden CE, Gur RE, and the Genes to Mental Health Network. Genes To Mental Health (G2MH)
American Journal of Psychiatry 179:189-203, 2022
doi: 10.1176/appi.ajp.2021.21040432

Schizophrenia risk mediated by microRNA target genes overlapped by genome-wide rare copy number variation in 22q11.2 deletion syndrome
Ying S, Heung T, Zhang Z, Yuen RKC, Bassett AS
Frontiers in Genetics 13:812183, 2022
doi: 10.3389/fgene.2022.812183

A regional burden of sequence-level variation in the 22q11.2 region influences schizophrenia risk and educational attainment
Breetvelt EJ, Smit KC, van Setten J, Merico D, Wang X, Vaartjes I, Bassett AS, Boks MPM, Szatmari P, Scherer SW, Kahn RS, Vorstman JAS
Biological Psychiatry 91(8):718-726, 2022. Epub 2021 Dec 4.
doi: 10.1016/j.biopsych.2021.11.019

Effects of copy number variations on brain structure and risk for psychiatric illness: Large-scale studies from the ENIGMA Working Groups on CNVs.
Sønderby IE, Ching CRK, Thomopoulos SI, van der Meer D, Sun D, Villalon Reina JE, Agartz I, Amunts K, Arango C, Armstrong NJ, Ayesa-Arriola R, Bakker G, Bassett AS, Boomsma DI, Bülow R, Butcher NJ, Calhoun VD, Caspers S, Chow EWC, Cichon S, Ciufolini S, Craig MC, Crespo-Facorro B, Cunningham AC, Dale AM, Dazzan P, de Zubicaray GI, Djurovic S, Doherty JL, Donohoe G, Draganski B, Durdle CA, Ehrlich S, Emanuel BS, Espeseth T, Fisher SE, Ge T, Glahn DC, Grabe HJ, Gur RE, Gutman BA, Haavik J, Håberg AK, Hansen LA, Hashimoto R, Hibar DP, Holmes AJ, Hottenga J-J, Hulshoff Pol HE, Jalbrzikowski M, Knowles EEM, Kushan L, Linden DEJ, Liu J, Lundervold AJ, Martin-Brevet S, Martínez K, Mather KA, Mathias SR, McDonald-McGinn DM, McRae AF, Medland SE, Moberget T, Modenato C, Sánchez JM, Moreau CA, Mühleisen TW, Paus T, Pausova Z, Prieto C, Ragothaman A, Reinbold CS, Marques TR, Repetto GM, Reymond A, Roalf DR, Rodriguez-Herreros B, Rucker JJ, Sachdev PS, Schmitt JE, Schofield PR, Silva AI, Stefansson H, Stein DJ, Tamnes CK, Tordesillas-Gutiérrez D, Ulfarsson MO, Vajdi A, van ‘t Ent D, van den Bree BMB, Vassos E, Vázquez-Bourgon J, Vila-Rodriguez F, Walters GM, Wen W, Westlye TY, Wittfeld K, Zackai EH, Stefánsson K, Jacquemont S, Thompson PM, Bearden CE, Andreassen OA for the ENIGMA-CNV Working Group and ENIGMA 22q11.2 Deletion Syndrome Working Group.
Human Brain Mapping, 43:300-328, 2022
doi: 10.1002/hbm.25354

Prioritizing Genetic Contributors to Cortical Alterations in 22q11.2 Deletion Syndrome Using Imaging Transcriptomics
Forsyth JK, Mennigen E, Lin A, Sun D, Vajdi A, Kushan-Wells L, Ching CRK, Villalon Renia JE, Thompson PM, 22q11.2 ENIGMA Consortium, Bearden CE.
Cerebral Cortex 31:3285-3298, 2021
doi: 10.1093/cercor/bhab008

Estimate of the contemporary live-birth prevalence of recurrent 22q11.2 deletions: a cross-sectional analysis from population-based newborn screening [Full text]
Blagojevic C, Heung T, Theriault M, Van L, Tomita-Mitchell A, Chakraborty P, Kernohan K, Bulman DE, Bassett AS
CMAJ Open, 2021, 9 (3) E802-E809
doi: 10.9778/cmajo.20200294
Summary

Sexual knowledge and behaviour in 22q11.2 deletion syndrome, a complex care condition
Palmer LD, Heung T, Corral M, Boot E, Brooks SG, Bassett AS
Journal of Applied Research in Intellectual Disabilities (pages 1–10), e-published 21 July 2021 ahead of print
doi: 10.1111/jar.12927

Abnormal spirometry in adults with 22q11.2 microdeletion and congenital heart disease
Blagojevic C, Heung T, van Mil S, Oechslin E, Silversides CK, Granton JT, Bassett AS
International Journal of Cardiology Congenital Heart Disease, 3:100085 (pages 1-7), 2021
doi: 10.1016/j.ijcchd.2021.100085

A normative chart for cognitive development in a genetically selected population
Fiksinski AM, Bearden CE, Bassett AS, Kahn RS, Zinkstok JR, Hooper SR, Tempelaar W, the 22q11DS International Consortium on Brain and Behavior, Vorstman JAS, Breetvelt EJ.
Neuropsychopharmacology (pages 1–8), e-published 29 March 2021 ahead of print
doi: 10.1038/s41386-021-00988-6

Effects of copy number variations on brain structure and risk for psychiatric illness: Large-scale studies from the ENIGMA Working Groups on CNVs.
Sønderby IE, Ching CRK, Thomopoulos SI, van der Meer D, Sun D, Villalon Reina JE, Agartz I, Amunts K, Arango C, Armstrong NJ, Ayesa-Arriola R, Bakker G, Bassett AS, Boomsma DI, Bülow R, Butcher NJ, Calhoun VD, Caspers S, Chow EWC, Cichon S, Ciufolini S, Craig MC, Crespo-Facorro B, Cunningham AC, Dale AM, Dazzan P, de Zubicaray GI, Djurovic S, Doherty JL, Donohoe G, Draganski B, Durdle CA, Ehrlich S, Emanuel BS, Espeseth T, Fisher SE, Ge T, Glahn DC, Grabe HJ, Gur RE, Gutman BA, Haavik J, Håberg AK, Hansen LA, Hashimoto R, Hibar DP, Holmes AJ, Hottenga J-J, Hulshoff Pol HE, Jalbrzikowski M, Knowles EEM, Kushan L, Linden DEJ, Liu J, Lundervold AJ, Martin-Brevet S, Martínez K, Mather KA, Mathias SR, McDonald-McGinn DM, McRae AF, Medland SE, Moberget T, Modenato C, Sánchez JM, Moreau CA, Mühleisen TW, Paus T, Pausova Z, Prieto C, Ragothaman A, Reinbold CS, Marques TR, Repetto GM, Reymond A, Roalf DR, Rodriguez-Herreros B, Rucker JJ, Sachdev PS, Schmitt JE, Schofield PR, Silva AI, Stefansson H, Stein DJ, Tamnes CK, Tordesillas-Gutiérrez D, Ulfarsson MO, Vajdi A, van ‘t Ent D, van den Bree BMB, Vassos E, Vázquez-Bourgon J, Vila-Rodriguez F, Walters GM, Wen W, Westlye TY, Wittfeld K, Zackai EH, Stefánsson K, Jacquemont S, Thompson PM, Bearden CE, Andreassen OA for the ENIGMA-CNV Working Group and ENIGMA 22q11.2 Deletion Syndrome Working Group.
Human Brain Mapping, (pages 1–29), e-published 21 February 2021 ahead of print
doi: 10.1002/hbm.25354

Within-family influences on dimensional neurobehavioral traits in a high-risk genetic model
Fiksinski AM, Heung T, Corral M, Breetvelt EJ, Costain G, Marshall CR, Kahn RS, Vorstman JAS, Bassett AS.
Psychological Medicine, (pages 1–9), e-published 14 January 2021 ahead of print
doi: 10.1017/S0033291720005279

Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion.
Cleynen I, Engchuan W, Hestand MS, Heung T, Holleman AM, Johnston HR, Monfuega T, McDonald-McGinn DM, Gur RE, Morrow BE, Swillen A, Vorstman J, Bearden CE, Chow EWC, van den Bree M, Emanuel BS, Vermeesch JR, Warren ST, Owen MJ, Chopra P, Cutler DJ, Duncan R, Kotlar AV, Mulle JG, Voss AJ, Zwick ME, Diacou A, Golden A, Guo T, Lin J-R, Wang T, Zhang Z, Zhao Y, Marshall C, Merico D, Jin A, Lilley B, Salmons HI, Tran O, Holmans P, Pardinas A, Walters JTR, Demaerel W, Boot E, Butcher NJ, Costain GA, Lowther L, Evers R, van Amelsvoort T, van Duin E, Vingerhoets C, Breckpot J, Devriendt K, Vergaelen E, Vogels A, Crowley TB, McGinn DE, Moss EM, Sharkus RJ, Unolt M, Zackai EH, Calkins ME, Gallagher RS, Gur RC, Tang SX, Fritsch R, Ornstein C, Repetto GM, Breetvelt E, Duijff SN, Fiksinski A, Moss H, Niarchou M, Murphy KC, Prasad SE, Daly EM, Gudbrandsen M, Murphy CL, Murphy DG, Buzzanca A, Di Fabio F, Digilio MC, Pontillo M, Marino B, Vicari S, Coleman K, Cubells JF, Ousley OY, Carmel M, Gothelf D, Mekori-Domachevsky E, Michaelovsky E, Weinberger R, Weizman A, Kushan L, Jalbrikowski M, Armando M, Eliez S, Sandini C, Schneider M, Bena Sloan F, Antshel KM, Fremont W, Kates WR, Belzeaux R, Busa T, Philip N, Campbell LE, McCabe KL, Hooper SR, Schoch K, Shashi V, Simon T, Tassone F, Arango C, Fraguas D, García-Miñaur S, Morey-Canyelles J, Rosell J, Suñer DH, Raventos-Simic J, International 22q11.2DS Brain and Behavior Consortium, Epstein MP, Williams NM, Bassett AS. (Co-first authors)
Molecular Psychiatry (pp 1-15), 26:4496-4510, 2021
doi:10.1038/s41380-020-0654-3

Cognitive behavioural therapy in 22q11.2 deletion syndrome: a case study of two young adults with an anxiety disorder
Buijs PCM, Bassett AS, Gold DA, Boot E.
Journal of Intellectual Disabilities, 25:695-704, 2021
doi: 10.1177/1744629520942374

Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome.
Davies RW^#, Fiksinski AM^#, Breetvelt EJ, Williams NM, Hooper SR, Monfeuga T, Bassett AS, Owen MJ, Gur RE, Morrow BE, McDonald-McGinn DM, Swillen A, Chow EWC, van den Bree M, Emanuel BS, Vermeesch JR, van Amelsvoort T, Arango C, Armando M, Campbell LE, Cubells JF, Eliez S, Garcia-Minaur S, Gothelf D, Kates WR, Murphy KC, Murphy CM, Murphy DG, Philip N, Repetto GM, Shashi V, Simon TJ, Suñer DH, Vicari S, Scherer SW, International 22q11.2 Brain and Behavior Consortium, Bearden CE, Vorstman JAS. (^#The first two authors contributed equally).
Nature Medicine 26:1912-1918, 2020
doi: 10.1038/s41591-020-1103-1

22q11.2 microdeletion and increased risk for type 2 diabetes
Van L, Heung T, Malecki SL, Fenn C, Tyrer A, Sanches M, Chow EWC, Boot, E, Corral M, Dash S, George SR, Bassett AS
EClinicalMedicine - The Lancet, 26:100528 (pages 1-8), 2020 (published online)
doi.org/10.1016/j.eclinm.2020.100528
Please see page 11 of our Clinic’s 2020 Newsletter for an interview with Dr. Sarah (Voll) Malecki.

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 25:1822-1834, 2020
doi:10.1038/s41380-018-0078-5

Personalized medical information card for adults with 22q11.2 deletion syndrome: An initiative to improve communication between patients and healthcare providers
Loo JCY, Boot E, Corral M, Bassett AS.
J Appl Res Intellect Disabil. 2020;33:1534–1540.
doi: 10.1111/jar.12747
Summary
If you are one of our patients and would like to obtain a personalized medical information card, please speak with one of our staff members. Thank you.

Impact of a 22q11.2 microdeletion on adult all-cause mortality in tetralogy of Fallot
Van Mil S, Heung T, Malecki S, Van L, Chang J, Breetvelt E, Wald R, Oechslin E, Silversides CK, Bassett AS
Canadian Journal of Cardiology 2020 Apr 26. pii: S0828-282X(20)30404-9.[Epub ahead of print]
doi: 10.1016/j.cjca.2020.04.019.

Age-related parkinsonian signs in microdeletion 22q11.2 Movement Disorders
Boot E, Mentzel TQ, Palmer LD, van Harten PN, Marras C, Lang AE, Bassett AS
Movement Disorders, 2020 [Epub ahead of print]
doi: 10.1002/mds.28080

The role of 22q11.2 deletion syndrome in the relationship between congenital heart disease and scoliosis.
Homans JF, de Reuver S, Heung T, Silversides CK, Oechslin EN, McDonald-McGinn DM, Kruyt MC, Castelein RM, Bassett AS.
Spine, 2020 (pp 1-8), e-published 18 January 2020
doi: 10.1016/j.spinee.2020.01.006.

Mapping subcortical brain alterations in 22q11.2 deletion syndrome: Effects of deletion size and convergence with idiopathic neuropsychiatric illness.
Ching CRK, Gutman BA, Sun D, Villalon-Reina JE, Ragothaman A, Isaev D, Zavaliangos-Petropulu A, Lin A, Jonas RK, Kushan L, Pacheco-Hansen L, Vajdi A, Forsyth JK, Jalbrzikowski M, Bakker G, van Amelsvoort TAMJ, Antshel KM, Fremont W, Kates WR, Campbell LE, McCabe KL, Craig MC, Daly E, Gudbrandsen M, Murphy CM, Murphy DG, Murphy KC, Fiksinski A, Koops S, Vorstman JAS, Crowley TB, Emanuel BS, Gur RE, McDonald-McGinn DM, Roalf DR, Ruparel K, Schmitt JE, Zakai EH, Durdle CA, Goodrich-Hunsaker NJ, Simon TJ, Bassett AS, Butcher NJ, Chow EWC, Vila-Rodriquez F, Cunningham A, Doherty J, Linden DEJ, Moss H, Owen MJ, van den Bree MBM, Crossley NA, Repetto GM, Thompson PM, Bearden CE
American Journal of Psychiatry (pp 1-13), e-published 12 February 2020
doi.org/10.1176/appi.ajp.2019.19060583
Editorial

A genetic model for multimorbidity in young adults.
Malecki SL, Van Mil S, Graffi J, Breetvelt E, Corral MG, Boot E, Chow EWC, Sanches M, Verma AA, Bassett AS.
Genetics in Medicine 22:132-141, 2020
doi:10.1038/s41436-019-0603-1
Summary
Please see page 11 of our Clinic’s 2020 Newsletter for an interview with Dr. Sarah (Voll) Malecki.

Complete sequence of the 22q11.2 allele in 1,053 subjects with 22q11.2 deletion syndrome reveals modifiers of conotruncal heart defects.
Zhao Y, Diacou A, Johnston HR, Musfee FI, McDonald-McGinn DM, McGinn D, Crowley TB, Repetto G, Swillen A, Breckpot J, Vermeesch JR, Kates W, Digilio MC, Unolt M, Marino B, Pontillo M, Armando M, Di Fabio F, Vicari S, van den Bree M, Moss H, Owen M, Murphy KC, Murphy C, Murphy D, Schoch K, Shashi V, Tassone F, Simon TJ, Shprintzen RJ, Campbell L, Philip N, Heine-Suñer D, García-Miñaúr S, García-Moya LF, International 22q11.2 Brain and Behavior Consortium, Bearden CE, Vingerhoets C, van Amelsvoort T, Eliez S, Schneider M, Vorstman JAS, Gothelf D, Zackai E, Agopain AJ, Gur RE, Bassett AS, Emanuel BS, Goldmuntz E, Mitchell LE, Wang T, Morrow BE.
American Journal of Human Genetics 106:26–40, 2020
doi: 10.1016/j.ajhg.2019.11.010

Atypical chromosome 22q11.2 deletions are complex rearrangements and have different mechanistic origins
Vervoort L, Demaerel W, Rengifo LY, Odrzywolski A, Vergaelen E, Hestand MS, Breckpot J, Devriendt K, Swillen A, McDonald-McGinn DM, Fiksinski AM, Zinkstok JR, Morrow BE, Heung T, Vorstman JAS, Bassett AS, Chow EWC, Shashi V, International 22q11.2 Brain and Behavior Consortium, Vermeesch JR. (*Co-first authors)
Human Molecular Genetics 28:3724-3733, 2019
doi: 10.1093/hmg/ddz166

Neurobiological perspective of 22q11.2 deletion syndrome
Zinkstok JR, Boot E, Bassett AS, Hiroi N, Butcher NJ, Vingerhoets C, Vorstman JAS, van Amelsvoort TAMJ.
Lancet Psychiatry. 6(11):951-960, 2019.Epub 2019 Aug 5.
doi: 10.1016/S2215-0366(19)30076-8.
Summary

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
Summary

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
Summary

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
doi:10.1017/S0033291718001824
Summary

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.
Summary

22q11.2 deletion syndrome-associated Parkinson’s disease.
Boot E, Bassett AS, Marras C.
Movement Disorders Clinical Practice 2019; 6(1): 11–16
doi:10.1002/mdc3.12687
Summary

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
doi.org/10.1002/ajmga.38708
Summary

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
doi.org/10.1038/s41380-018-0078-5

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
doi:10.1212/WNL.0000000000005660

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
Summary

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.
Summary

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.
Summary

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.
Summary

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
Summary

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
Summary
Please see page 11 of our Clinic’s 2020 Newsletter for an interview with Dr. Sarah (Voll) Malecki.

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.
Summary

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
doi:10.1016/j.ehpc.2016.09.003

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
Notice of retraction

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
doi:10.1186/s13073-017-0488-z

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
Summary

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
Summary

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

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
This article was featured on the homepage of the journal Nature Reviews Disease Primers in September, 2017.

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
Summary

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
Summary

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.
Summary

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
doi:10.1080/15265161.2015.1028661

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
Summary

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
doi:10.1093/schbul/sbs138

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
doi:10.1161/CIRCGENETICS.113.000328

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

• Editorial by Shulman JM: Structural Variation and the Expanding Genomic Architecture of Parkinson Disease

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

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

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

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