Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 97

1.

A genetic model for multimorbidity in young adults.

Malecki SL, Van Mil S, Graffi J, Breetvelt E, Corral M, Boot E, Chow EWC, Sanches M, Verma AA, Bassett AS.

Genet Med. 2019 Jul 31. doi: 10.1038/s41436-019-0603-1. [Epub ahead of print]

PMID:
31363180
2.

All-cause mortality and survival in adults with 22q11.2 deletion syndrome.

Van L, Heung T, Graffi J, Ng E, Malecki S, Van Mil S, Boot E, Corral M, Chow EWC, Hodgkinson KA, Silversides C, Bassett AS.

Genet Med. 2019 Apr 5. doi: 10.1038/s41436-019-0509-y. [Epub ahead of print]

PMID:
30948858
3.

Periventricular nodular heterotopia in 22q11.2 deletion and frontal lobe migration.

Rezazadeh A, Bercovici E, Kiehl TR, Chow EW, Krings T, Bassett AS, Andrade DM.

Ann Clin Transl Neurol. 2018 Sep 23;5(11):1314-1322. doi: 10.1002/acn3.641. eCollection 2018 Nov.

4.

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 JAS, Morrow BE; International 22q11.2 Brain and Behavior Consortium.

Am J Med Genet A. 2018 Oct;176(10):2172-2181. doi: 10.1002/ajmg.a.40359. Epub 2018 Oct 5.

PMID:
30289625
5.

Neurocognition and adaptive functioning in a genetic high risk model of schizophrenia.

Fiksinski AM, Breetvelt EJ, Lee YJ, Boot E, Butcher N, Palmer L, Chow EWC, Kahn RS, Vorstman JAS, Bassett AS.

Psychol Med. 2019 Apr;49(6):1047-1054. doi: 10.1017/S0033291718001824. Epub 2018 Aug 1.

PMID:
30064532
6.

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 NJ, Vila-Rodriguez 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.

Mol Psychiatry. 2018 Jun 13. doi: 10.1038/s41380-018-0078-5. [Epub ahead of print]

7.

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.

8.

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.

9.

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.

10.

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.

11.

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.

12.

Elucidation of the calcineurin-Crz1 stress response transcriptional network in the human fungal pathogen Cryptococcus neoformans.

Chow EW, Clancey SA, Billmyre RB, Averette AF, Granek JA, Mieczkowski P, Cardenas ME, Heitman J.

PLoS Genet. 2017 Apr 4;13(4):e1006667. doi: 10.1371/journal.pgen.1006667. eCollection 2017 Apr.

13.

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
14.

Calcineurin Targets Involved in Stress Survival and Fungal Virulence.

Park HS, Chow EW, Fu C, Soderblom EJ, Moseley MA, Heitman J, Cardenas ME.

PLoS Pathog. 2016 Sep 9;12(9):e1005873. doi: 10.1371/journal.ppat.1005873. eCollection 2016 Sep.

15.

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.

16.

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.

17.

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.

18.

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
19.

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.

20.

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.

21.

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.

22.

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.

23.

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.

24.

Economic and environmental benefits of higher-octane gasoline.

Speth RL, Chow EW, Malina R, Barrett SR, Heywood JB, Green WH.

Environ Sci Technol. 2014 Jun 17;48(12):6561-8. doi: 10.1021/es405557p. Epub 2014 May 28.

PMID:
24870412
25.

Analysis of the genome and transcriptome of Cryptococcus neoformans var. grubii reveals complex RNA expression and microevolution leading to virulence attenuation.

Janbon G, Ormerod KL, Paulet D, Byrnes EJ 3rd, Yadav V, Chatterjee G, Mullapudi N, Hon CC, Billmyre RB, Brunel F, Bahn YS, Chen W, Chen Y, Chow EW, Coppée JY, Floyd-Averette A, Gaillardin C, Gerik KJ, Goldberg J, Gonzalez-Hilarion S, Gujja S, Hamlin JL, Hsueh YP, Ianiri G, Jones S, Kodira CD, Kozubowski L, Lam W, Marra M, Mesner LD, Mieczkowski PA, Moyrand F, Nielsen K, Proux C, Rossignol T, Schein JE, Sun S, Wollschlaeger C, Wood IA, Zeng Q, Neuvéglise C, Newlon CS, Perfect JR, Lodge JK, Idnurm A, Stajich JE, Kronstad JW, Sanyal K, Heitman J, Fraser JA, Cuomo CA, Dietrich FS.

PLoS Genet. 2014 Apr 17;10(4):e1004261. doi: 10.1371/journal.pgen.1004261. eCollection 2014 Apr.

26.

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.

27.

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. 2014 Jun;171(6):627-39. Review.

28.

Premorbid adjustment and schizophrenia in individuals with 22q11.2 deletion syndrome.

Yuen T, Chow EW, Silversides CK, Bassett AS.

Schizophr Res. 2013 Dec;151(1-3):221-5. doi: 10.1016/j.schres.2013.10.041. Epub 2013 Nov 19.

PMID:
24262682
29.

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. 2013 Nov;70(11):1359-66. doi: 10.1001/jamaneurol.2013.3646.

30.

Hippocampal malrotation is associated with chromosome 22q11.2 microdeletion.

Andrade DM, Krings T, Chow EW, Kiehl TR, Bassett AS.

Can J Neurol Sci. 2013 Sep;40(5):652-6.

31.

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. 2013 Nov 15;22(22):4485-501. doi: 10.1093/hmg/ddt297. Epub 2013 Jun 27.

32.

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. 2014 Jan;16(1):40-4. doi: 10.1038/gim.2013.71. Epub 2013 Jun 13.

33.

Reactive oxygen species homeostasis and virulence of the fungal pathogen Cryptococcus neoformans requires an intact proline catabolism pathway.

Lee IR, Lui EY, Chow EW, Arras SD, Morrow CA, Fraser JA.

Genetics. 2013 Jun;194(2):421-33. doi: 10.1534/genetics.113.150326. Epub 2013 Apr 5.

34.

Comparative Genomics of Serial Isolates of Cryptococcus neoformans Reveals Gene Associated With Carbon Utilization and Virulence.

Ormerod KL, Morrow CA, Chow EW, Lee IR, Arras SD, Schirra HJ, Cox GM, Fries BC, Fraser JA.

G3 (Bethesda). 2013 Apr 9;3(4):675-686. doi: 10.1534/g3.113.005660.

35.

Sulfonylureas have antifungal activity and are potent inhibitors of Candida albicans acetohydroxyacid synthase.

Lee YT, Cui CJ, Chow EW, Pue N, Lonhienne T, Wang JG, Fraser JA, Guddat LW.

J Med Chem. 2013 Jan 10;56(1):210-9. doi: 10.1021/jm301501k. Epub 2012 Dec 31.

PMID:
23237384
36.

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. 2013 Jan;143(1):55-9. doi: 10.1016/j.schres.2012.10.010. Epub 2012 Nov 13.

PMID:
23153825
37.

Perceived burden and neuropsychiatric morbidities in adults with 22q11.2 deletion syndrome.

Karas DJ, Costain G, Chow EW, Bassett AS.

J Intellect Disabil Res. 2014 Feb;58(2):198-210. doi: 10.1111/j.1365-2788.2012.01639.x. Epub 2012 Oct 29.

38.

De novo GTP biosynthesis is critical for virulence of the fungal pathogen Cryptococcus neoformans.

Morrow CA, Valkov E, Stamp A, Chow EW, Lee IR, Wronski A, Williams SJ, Hill JM, Djordjevic JT, Kappler U, Kobe B, Fraser JA.

PLoS Pathog. 2012;8(10):e1002957. doi: 10.1371/journal.ppat.1002957. Epub 2012 Oct 11.

39.

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. 2012 Nov;158A(11):2781-7. doi: 10.1002/ajmg.a.35512. Epub 2012 Oct 3.

40.

Functional outcomes of adults with 22q11.2 deletion syndrome.

Butcher NJ, Chow EW, Costain G, Karas D, Ho A, Bassett AS.

Genet Med. 2012 Oct;14(10):836-43. doi: 10.1038/gim.2012.66. Epub 2012 Jun 28.

41.

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. 2012 May;137(1-3):166-8. doi: 10.1016/j.schres.2012.02.009. Epub 2012 Mar 3.

42.

A unique chromosomal rearrangement in the Cryptococcus neoformans var. grubii type strain enhances key phenotypes associated with virulence.

Morrow CA, Lee IR, Chow EW, Ormerod KL, Goldinger A, Byrnes EJ 3rd, Nielsen K, Heitman J, Schirra HJ, Fraser JA.

MBio. 2012 Feb 28;3(2). pii: e00310-11. doi: 10.1128/mBio.00310-11. Print 2012.

43.

Microevolution of Cryptococcus neoformans driven by massive tandem gene amplification.

Chow EW, Morrow CA, Djordjevic JT, Wood IA, Fraser JA.

Mol Biol Evol. 2012 Aug;29(8):1987-2000. doi: 10.1093/molbev/mss066. Epub 2012 Feb 14.

PMID:
22334577
44.

Mutations in MECP2 exon 1 in classical Rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2.

Gianakopoulos PJ, Zhang Y, Pencea N, Orlic-Milacic M, Mittal K, Windpassinger C, White SJ, Kroisel PM, Chow EW, Saunders CJ, Minassian BA, Vincent JB.

Am J Med Genet B Neuropsychiatr Genet. 2012 Mar;159B(2):210-6. doi: 10.1002/ajmg.b.32015. Epub 2011 Dec 27.

PMID:
22213695
45.

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. 2012 Jun;56(6):641-51. doi: 10.1111/j.1365-2788.2011.01510.x. Epub 2011 Dec 6.

46.

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. 2011 Dec;48(12):819-24. doi: 10.1136/jmedgenet-2011-100440. Epub 2011 Nov 2.

47.

Nitrogen metabolite repression of metabolism and virulence in the human fungal pathogen Cryptococcus neoformans.

Lee IR, Chow EW, Morrow CA, Djordjevic JT, Fraser JA.

Genetics. 2011 Jun;188(2):309-23. doi: 10.1534/genetics.111.128538. Epub 2011 Mar 24.

48.

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. 2011 May;168(5):522-9. doi: 10.1176/appi.ajp.2010.10081230. Epub 2011 Mar 1. Erratum in: Am J Psychiatry. 2011 May;168(5):553.

49.

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. 2011 Feb 1;107(3):466-71. doi: 10.1016/j.amjcard.2010.09.045.

50.

Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.

Moreno-De-Luca D; SGENE Consortium, Mulle JG; Simons Simplex Collection Genetics Consortium, Kaminsky EB, Sanders SJ; GeneSTAR, Myers SM, Adam MP, Pakula AT, Eisenhauer NJ, Uhas K, Weik L, Guy L, Care ME, Morel CF, Boni C, Salbert BA, Chandrareddy A, Demmer LA, Chow EW, Surti U, Aradhya S, Pickering DL, Golden DM, Sanger WG, Aston E, Brothman AR, Gliem TJ, Thorland EC, Ackley T, Iyer R, Huang S, Barber JC, Crolla JA, Warren ST, Martin CL, Ledbetter DH.

Am J Hum Genet. 2010 Nov 12;87(5):618-30. doi: 10.1016/j.ajhg.2010.10.004. Epub 2010 Nov 4. Erratum in: Am J Hum Genet. 2011 Jan 7;88(1):121.

Supplemental Content

Support Center