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Items: 1 to 50 of 283

1.

The Clinical Utility of Flexion-extension Cervical Spine MRI in 22q11.2 Deletion Syndrome.

Kolman SE, Ohara SY, Bhatia A, Feygin T, Colo D, Baldwin KD, Mcdonald-Mcginn D, Spiegel DA.

J Pediatr Orthop. 2019 Oct;39(9):e674-e679. doi: 10.1097/BPO.0000000000000994.

PMID:
31503223
2.

The 22q11 low copy repeats are characterized by unprecedented size and structural variability.

Demaerel W, Mostovoy Y, Yilmaz F, Vervoort L, Pastor S, Hestand MS, Swillen A, Vergaelen E, Geiger EA, Coughlin CR, Chow SK, McDonald-McGinn D, Morrow B, Kwok PY, Xiao M, Emanuel BS, Shaikh TH, Vermeesch JR.

Genome Res. 2019 Sep;29(9):1389-1401. doi: 10.1101/gr.248682.119.

PMID:
31481461
3.

Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition.

Unolt M, Kammoun M, Nowakowska B, Graham GE, Crowley TB, Hestand MS, Demaerel W, Geremek M, Emanuel BS, Zackai EH, Vermeesch JR, McDonald-McGinn D.

Genet Med. 2019 Sep 2. doi: 10.1038/s41436-019-0645-4. [Epub ahead of print]

PMID:
31474763
4.

Altered white matter microstructure in 22q11.2 deletion syndrome: a multisite diffusion tensor imaging study.

Villalón-Reina JE, Martínez K, Qu X, Ching CRK, Nir TM, Kothapalli D, Corbin C, Sun D, Lin A, Forsyth JK, Kushan L, Vajdi A, Jalbrzikowski M, Hansen L, 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, Emanuel B, McDonald-McGinn DM, Vorstman JAS, Fiksinski AM, Koops S, Ruparel K, Roalf D, Gur RE, Eric Schmitt J, Simon TJ, Goodrich-Hunsaker NJ, Durdle CA, Doherty JL, Cunningham AC, van den Bree M, Linden DEJ, Owen M, Moss H, Kelly S, Donohoe G, Murphy KC, Arango C, Jahanshad N, Thompson PM, Bearden CE.

Mol Psychiatry. 2019 Jul 29. doi: 10.1038/s41380-019-0450-0. [Epub ahead of print]

PMID:
31358905
5.

Speech-Language Disorders in 22q11.2 Deletion Syndrome: Best Practices for Diagnosis and Management.

Solot CB, Sell D, Mayne A, Baylis AL, Persson C, Jackson O, McDonald-McGinn DM.

Am J Speech Lang Pathol. 2019 Aug 9;28(3):984-999. doi: 10.1044/2019_AJSLP-16-0147. Epub 2019 Jul 22.

PMID:
31330115
6.

Copy number variations in individuals with conotruncal heart defects reveal some shared developmental pathways irrespective of 22q11.2 deletion status.

Xie HM, Taylor DM, Zhang Z, McDonald-McGinn DM, Zackai EH, Stambolian D, Hakonarson H, Morrow BE, Emanuel BS, Goldmuntz E.

Birth Defects Res. 2019 Aug 1;111(13):888-905. doi: 10.1002/bdr2.1534. Epub 2019 Jun 20.

PMID:
31222980
7.

Muenke syndrome: Medical and surgical comorbidities and long-term management.

Murali CN, McDonald-McGinn DM, Wenger TL, McDougall C, Stroup BM, Sheppard SE, Taylor J, Bartlett SP, Bhoj EJ, Zackai EH, Santani A.

Am J Med Genet A. 2019 Aug;179(8):1442-1450. doi: 10.1002/ajmg.a.61199. Epub 2019 May 20.

PMID:
31111620
8.

The 22q11.2 deletion syndrome as a model for idiopathic scoliosis - A hypothesis.

Homans JF, de Reuver S, Breetvelt EJ, Vorstman JAS, Deeney VFX, Flynn JM, McDonald-McGinn DM, Kruyt MC, Castelein RM.

Med Hypotheses. 2019 Jun;127:57-62. doi: 10.1016/j.mehy.2019.03.024. Epub 2019 Mar 27.

9.

Palatal evaluation and treatment in 22q11.2 deletion syndrome.

Jackson O, Crowley TB, Sharkus R, Smith R, Jeong S, Solot C, McDonald-Mcginn D.

Am J Med Genet A. 2019 Jul;179(7):1184-1195. doi: 10.1002/ajmg.a.61152. Epub 2019 Apr 30.

PMID:
31038278
10.

Anomalies of the genitourinary tract in children with 22q11.2 deletion syndrome.

Van Batavia JP, Crowley TB, Burrows E, Zackai EH, Sanna-Cherchi S, McDonald-McGinn DM, Kolon TF.

Am J Med Genet A. 2019 Mar;179(3):381-385. doi: 10.1002/ajmg.a.61020. Epub 2018 Dec 24.

PMID:
30582277
11.

Management of velopharyngeal dysfunction in patients with 22q11.2 deletion syndrome: A survey of practice patterns.

Jackson OA, Paine K, Magee L, Maguire MA, Zackai E, McDonald-McGinn DM, McCormack S, Solot C.

Int J Pediatr Otorhinolaryngol. 2019 Jan;116:43-48. doi: 10.1016/j.ijporl.2018.10.016. Epub 2018 Oct 12.

PMID:
30554706
12.

Musical auditory processing, cognition, and psychopathology in 22q11.2 deletion syndrome.

Gao L, Tang SX, Yi JJ, McDonald-McGinn DM, Zackai EH, Emanuel BS, Gur RC, Calkins ME, Gur RE.

Am J Med Genet B Neuropsychiatr Genet. 2018 Dec;177(8):765-773. doi: 10.1002/ajmg.b.32690. Epub 2018 Nov 16.

PMID:
30444066
13.

22q11.2 deletion syndrome: A tiny piece leading to a big picture.

McDonald-McGinn DM.

Am J Med Genet A. 2018 Oct;176(10):2055-2057. doi: 10.1002/ajmg.a.40653. No abstract available.

14.

Molecular genetics of 22q11.2 deletion syndrome.

Morrow BE, McDonald-McGinn DM, Emanuel BS, Vermeesch JR, Scambler PJ.

Am J Med Genet A. 2018 Oct;176(10):2070-2081. doi: 10.1002/ajmg.a.40504. Review.

15.

What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia.

Campbell IM, Sheppard SE, Crowley TB, McGinn DE, Bailey A, McGinn MJ, Unolt M, Homans JF, Chen EY, Salmons HI, Gaynor JW, Goldmuntz E, Jackson OA, Katz LE, Mascarenhas MR, Deeney VFX, Castelein RM, Zur KB, Elden L, Kallish S, Kolon TF, Hopkins SE, Chadehumbe MA, Lambert MP, Forbes BJ, Moldenhauer JS, Schindewolf EM, Solot CB, Moss EM, Gur RE, Sullivan KE, Emanuel BS, Zackai EH, McDonald-McGinn DM.

Am J Med Genet A. 2018 Oct;176(10):2058-2069. doi: 10.1002/ajmg.a.40637.

16.

Club foot in association with the 22q11.2 deletion syndrome: An observational study.

Homans JF, Crowley TB, Chen E, McGinn DE, Deeney VFX, Sakkers RJB, Davidson RS, Castelein RM, McDonald-McGinn DM.

Am J Med Genet A. 2018 Oct;176(10):2135-2139. doi: 10.1002/ajmg.a.40649.

17.

The impact of hypocalcemia on full scale IQ in patients with 22q11.2 deletion syndrome.

Grand K, Levitt Katz LE, Crowley TB, Moss E, Lessig M, Bamba V, Lord K, Zackai EH, Emanuel BS, Valverde K, McDonald-McGinn DM.

Am J Med Genet A. 2018 Oct;176(10):2167-2171. doi: 10.1002/ajmg.a.40535.

18.

Neurologic challenges in 22q11.2 deletion syndrome.

Hopkins SE, Chadehumbe M, Blaine Crowley T, Zackai EH, Bilaniuk LT, McDonald-McGinn DM.

Am J Med Genet A. 2018 Oct;176(10):2140-2145. doi: 10.1002/ajmg.a.38614. Epub 2018 Oct 26. Review.

PMID:
30365873
19.

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.

20.

Association of hypocalcemia with congenital heart disease in 22q11.2 deletion syndrome.

Rayannavar A, Levitt Katz LE, Crowley TB, Lessig M, Grand K, Goldmuntz E, Zackai EH, McDonald-McGinn DM.

Am J Med Genet A. 2018 Oct;176(10):2099-2103. doi: 10.1002/ajmg.a.40495. Epub 2018 Oct 1.

21.

22q and two: 22q11.2 deletion syndrome and coexisting conditions.

Cohen JL, Crowley TB, McGinn DE, McDougall C, Unolt M, Lambert MP, Emanuel BS, Zackai EH, McDonald-McGinn DM.

Am J Med Genet A. 2018 Oct;176(10):2203-2214. doi: 10.1002/ajmg.a.40494. Epub 2018 Sep 23.

22.

Retraction Notice to: Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements.

Demaerel W, Hestand MS, Vergaelen E, Swillen A, López-Sánchez M, Pérez-Jurado LA, McDonald-McGinn DM, Zackai E, Emanuel BS, Morrow BE, Breckpot J, Devriendt K, Vermeesch JR; International 22q11.2 Brain and Behavior Consortium.

Am J Hum Genet. 2018 Sep 6;103(3):457. doi: 10.1016/j.ajhg.2018.08.011. No abstract available.

23.

Attention deficit hyperactivity disorder symptoms as antecedents of later psychotic outcomes in 22q11.2 deletion syndrome.

Niarchou M, Chawner SJRA, Fiksinski A, Vorstman JAS, Maeder J, Schneider M, Eliez S, Armando M, Pontillo M, Vicari S, McDonald-McGinn DM, Emanuel BS, Zackai EH, Bearden CE, Shashi V, Hooper SR, Owen MJ, Gur RE, Wray NR, van den Bree MBM, Thapar A; International 22q11.2 Deletion Syndrome Brain and Behavior Consortium.

Schizophr Res. 2019 Feb;204:320-325. doi: 10.1016/j.schres.2018.07.044. Epub 2018 Aug 7.

24.

Expanding the fetal phenotype: Prenatal sonographic findings and perinatal outcomes in a cohort of patients with a confirmed 22q11.2 deletion syndrome.

Schindewolf E, Khalek N, Johnson MP, Gebb J, Coleman B, Crowley TB, Zackai EH, McDonald-McGinn DM, Moldenhauer JS.

Am J Med Genet A. 2018 Aug;176(8):1735-1741. doi: 10.1002/ajmg.a.38665. Epub 2018 Jul 28.

25.

Olfactory deficits and psychosis-spectrum symptoms in 22q11.2 deletion syndrome.

Tang SX, Moberg PJ, Yi JJ, Wiemken AS, Dress EM, Moore TM, Calkins ME, McDonald-McGinn DM, Zackai EH, Emanuel BS, Gur RC, Gur RE, Turetsky BI.

Schizophr Res. 2018 Dec;202:113-119. doi: 10.1016/j.schres.2018.07.012. Epub 2018 Jul 11.

26.

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]

27.

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 Oct;176(10):2146-2159. doi: 10.1002/ajmg.a.38708. Epub 2018 May 19. Review.

28.

Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well-established knowledge to new frontiers.

Unolt M, Versacci P, Anaclerio S, Lambiase C, Calcagni G, Trezzi M, Carotti A, Crowley TB, Zackai EH, Goldmuntz E, Gaynor JW, Digilio MC, McDonald-McGinn DM, Marino B.

Am J Med Genet A. 2018 Oct;176(10):2087-2098. doi: 10.1002/ajmg.a.38662. Epub 2018 Apr 16. Review.

29.

Scoliosis in association with the 22q11.2 deletion syndrome: an observational study.

Homans JF, Baldew VGM, Brink RC, Kruyt MC, Schlösser TPC, Houben ML, Deeney VFX, Crowley TB, Castelein RM, McDonald-McGinn DM.

Arch Dis Child. 2019 Jan;104(1):19-24. doi: 10.1136/archdischild-2018-314779. Epub 2018 Apr 7.

PMID:
29627765
30.

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.

31.

Anatomic Malformations of the Middle and Inner Ear in 22q11.2 Deletion Syndrome: Case Series and Literature Review.

Verheij E, Elden L, Crowley TB, Pameijer FA, Zackai EH, McDonald-McGinn DM, Thomeer HGXM.

AJNR Am J Neuroradiol. 2018 May;39(5):928-934. doi: 10.3174/ajnr.A5588. Epub 2018 Mar 15. Review.

32.

Dysregulation of TBX1 dosage in the anterior heart field results in congenital heart disease resembling the 22q11.2 duplication syndrome.

Hasten E, McDonald-McGinn DM, Crowley TB, Zackai E, Emanuel BS, Morrow BE, Racedo SE.

Hum Mol Genet. 2018 Jun 1;27(11):1847-1857. doi: 10.1093/hmg/ddy078.

33.

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

Johnston JJ, van der Smagt JJ, Rosenfeld JA, Pagnamenta AT, Alswaid A, Baker EH, Blair E, Borck G, Brinkmann J, Craigen W, Dung VC, Emrick L, Everman DB, van Gassen KL, Gulsuner S, Harr MH, Jain M, Kuechler A, Leppig KA, McDonald-McGinn DM, Can NTB, Peleg A, Roeder ER, Rogers RC, Sagi-Dain L, Sapp JC, Schäffer AA, Schanze D, Stewart H, Taylor JC, Verbeek NE, Walkiewicz MA, Zackai EH, Zweier C; Members of the Undiagnosed Diseases Network, Zenker M, Lee B, Biesecker LG.

Genet Med. 2018 Oct;20(10):1175-1185. doi: 10.1038/gim.2017.249. Epub 2018 Feb 22.

34.

Autosomal dominant mannose-binding lectin deficiency is associated with worse neurodevelopmental outcomes after cardiac surgery in infants.

Kim DS, Li YK, Kim JH, Bergquist CS, Gerdes M, Bernbaum JC, Burnham N, McDonald-McGinn DM, Zackai EH, Nicolson SC, Spray TL, Nickerson DA, Hakonarson H, Jarvik GP, Gaynor JW.

J Thorac Cardiovasc Surg. 2018 Mar;155(3):1139-1147.e2. doi: 10.1016/j.jtcvs.2017.08.035. Epub 2017 Dec 7.

35.

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 Jul;61(7):411-415. doi: 10.1016/j.ejmg.2018.02.006. Epub 2018 Feb 12.

PMID:
29447908
36.

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.

37.

Crouzon with Acanthosis Nigricans and Odontogenic Tumors: A Rare Form of Syndromic Craniosynostosis.

Xu W, McDonald-McGinn DM, Melchiorre AJ, Zackai EH, Bartlett SP, Taylor JA.

Cleft Palate Craniofac J. 2018 Feb;55(2):296-300. doi: 10.1177/1055665617723918. Epub 2017 Dec 14.

PMID:
29351036
38.

Variable immune deficiency related to deletion size in chromosome 22q11.2 deletion syndrome.

Crowley B, Ruffner M, McDonald McGinn DM, Sullivan KE.

Am J Med Genet A. 2018 Oct;176(10):2082-2086. doi: 10.1002/ajmg.a.38597. Epub 2018 Jan 17. Review.

39.

Pediatric healthcare costs for patients with 22q11.2 deletion syndrome.

Benn P, Iyengar S, Crowley TB, Zackai EH, Burrows EK, Moshkevich S, McDonald-McGinn DM, Sullivan KE, Demko Z.

Mol Genet Genomic Med. 2017 Nov;5(6):631-638. doi: 10.1002/mgg3.310. Epub 2017 Aug 12.

40.

Orthopaedic manifestations within the 22q11.2 Deletion syndrome: A systematic review.

Homans JF, Tromp IN, Colo D, Schlösser TPC, Kruyt MC, Deeney VFX, Crowley TB, McDonald-McGinn DM, Castelein RM.

Am J Med Genet A. 2018 Oct;176(10):2104-2120. doi: 10.1002/ajmg.a.38545. Epub 2017 Nov 21.

PMID:
29159873
41.

Critical region within 22q11.2 linked to higher rate of autism spectrum disorder.

Clements CC, Wenger TL, Zoltowski AR, Bertollo JR, Miller JS, de Marchena AB, Mitteer LM, Carey JC, Yerys BE, Zackai EH, Emanuel BS, McDonald-McGinn DM, Schultz RT.

Mol Autism. 2017 Oct 27;8:58. doi: 10.1186/s13229-017-0171-7. eCollection 2017.

42.

Attention Deficit Hyperactivity Disorder Symptoms and Psychosis in 22q11.2 Deletion Syndrome.

Niarchou M, Calkins ME, Moore TM, Tang SX, McDonald-McGinn DM, Zackai EH, Emanuel BS, Gur RC, Gur RE.

Schizophr Bull. 2018 Jun 6;44(4):824-833. doi: 10.1093/schbul/sbx113. Erratum in: Schizophr Bull. 2019 Oct 24;45(6):1382.

43.

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.

44.

Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements.

Demaerel W, Hestand MS, Vergaelen E, Swillen A, López-Sánchez M, Pérez-Jurado LA, McDonald-McGinn DM, Zackai E, Emanuel BS, Morrow BE, Breckpot J, Devriendt K, Vermeesch JR; International 22q11.2 Brain and Behavior Consortium.

Am J Hum Genet. 2017 Oct 5;101(4):616-622. doi: 10.1016/j.ajhg.2017.09.002. Epub 2017 Sep 28. Retraction in: Am J Hum Genet. 2018 Sep 6;103(3):457.

45.

T-cell lymphopenia in 22q11.2 deletion syndrome: Relationship to cardiac disease.

Sullivan KE, Crowley TB, Maurer K, Goldmuntz E, Gaynor JW, Zackai E, McDonald-McGinn D.

J Allergy Clin Immunol Pract. 2018 Mar - Apr;6(2):690-691. doi: 10.1016/j.jaip.2017.08.028. Epub 2017 Sep 28. No abstract available.

PMID:
28964704
46.

The 22q11.2 deletion syndrome: Cancer predisposition, platelet abnormalities and cytopenias.

Lambert MP, Arulselvan A, Schott A, Markham SJ, Crowley TB, Zackai EH, McDonald-McGinn DM.

Am J Med Genet A. 2018 Oct;176(10):2121-2127. doi: 10.1002/ajmg.a.38474. Epub 2017 Sep 22. Review.

PMID:
28940864
47.

A vascular endothelial growth factor A genetic variant is associated with improved ventricular function and transplant-free survival after surgery for non-syndromic CHD.

Mavroudis CD, Seung Kim D, Burnham N, Morss AH, Kim JH, Burt AA, Crosslin DR, McDonald-McGinn DM, Zackai EH, Cohen MS, Nicolson SC, Spray TL, Stanaway IB, Nickerson DA, Russell MW, Hakonarson H, Jarvik GP, Gaynor JW.

Cardiol Young. 2018 Jan;28(1):39-45. doi: 10.1017/S1047951117001391. Epub 2017 Sep 20.

PMID:
28927471
48.

White matter microstructural deficits in 22q11.2 deletion syndrome.

Roalf DR, Eric Schmitt J, Vandekar SN, Satterthwaite TD, Shinohara RT, Ruparel K, Elliott MA, Prabhakaran K, McDonald-McGinn DM, Zackai EH, Gur RC, Emanuel BS, Gur RE.

Psychiatry Res Neuroimaging. 2017 Oct 30;268:35-44. doi: 10.1016/j.pscychresns.2017.08.001. Epub 2017 Aug 24.

49.

A human case of SLC35A3-related skeletal dysplasia.

Edmondson AC, Bedoukian EC, Deardorff MA, McDonald-McGinn DM, Li X, He M, Zackai EH.

Am J Med Genet A. 2017 Oct;173(10):2758-2762. doi: 10.1002/ajmg.a.38374. Epub 2017 Aug 4.

PMID:
28777481
50.

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.

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