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Items: 1 to 50 of 310

1.

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 Jul 11. pii: S0920-9964(18)30427-4. doi: 10.1016/j.schres.2018.07.012. [Epub ahead of print]

PMID:
30007867
2.

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.

PMID:
29509905
3.

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
4.

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.

5.

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.

PMID:
29040797
6.

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.

7.

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.

8.

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.

PMID:
28865345
9.

Emanuel Syndrome.

Emanuel BS, Zackai EH, Medne L.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2007 Apr 20 [updated 2017 Aug 31].

10.

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
11.

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.

12.

Emergent, remitted and persistent psychosis-spectrum symptoms in 22q11.2 deletion syndrome.

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

Transl Psychiatry. 2017 Jul 25;7(7):e1180. doi: 10.1038/tp.2017.157.

13.

The dimensional structure of psychopathology in 22q11.2 Deletion Syndrome.

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

J Psychiatr Res. 2017 Sep;92:124-131. doi: 10.1016/j.jpsychires.2017.04.006. Epub 2017 Apr 15.

PMID:
28433949
14.

Negative subthreshold psychotic symptoms distinguish 22q11.2 deletion syndrome from other neurodevelopmental disorders: A two-site study.

Mekori-Domachevsky E, Guri Y, Yi J, Weisman O, Calkins ME, Tang SX, Gross R, McDonald-McGinn DM, Emanuel BS, Zackai EH, Zalsman G, Weizman A, Gur RC, Gur RE, Gothelf D.

Schizophr Res. 2017 Oct;188:42-49. doi: 10.1016/j.schres.2016.12.023. Epub 2016 Dec 29.

PMID:
28041919
15.

Commentary on the decision of the American Board of Medical Genetics and Genomics to create a 24-month specialty of Laboratory Genetics and Genomics.

Bieber FR, Cherry AM, Emanuel BS, Francke U, Hoyme HE, Jackson LG, Morton CC, Muenke M, Powell CM, Punnett HH, Rao PN, Schwartz S, Stevenson RE, Van Dyke DL.

Genet Med. 2017 Mar;19(3):294-296. doi: 10.1038/gim.2016.171. Epub 2016 Nov 17. Erratum in: Genet Med. 2017 Apr;19(4):483.

PMID:
27854359
16.

The Psychosis Spectrum in 22q11.2 Deletion Syndrome Is Comparable to That of Nondeleted Youths.

Tang SX, Moore TM, Calkins ME, Yi JJ, Savitt A, Kohler CG, Souders MC, Zackai EH, McDonald-McGinn DM, Emanuel BS, Gur RC, Gur RE.

Biol Psychiatry. 2017 Jul 1;82(1):17-25. doi: 10.1016/j.biopsych.2016.08.034. Epub 2016 Sep 8.

17.

Disrupted anatomic networks in the 22q11.2 deletion syndrome.

Schmitt JE, Yi J, Calkins ME, Ruparel K, Roalf DR, Cassidy A, Souders MC, Satterthwaite TD, McDonald-McGinn DM, Zackai EH, Gur RC, Emanuel BS, Gur RE.

Neuroimage Clin. 2016 Aug 25;12:420-8. doi: 10.1016/j.nicl.2016.08.020. eCollection 2016.

18.

IQ and hemizygosity for the Val158 Met functional polymorphism of COMT in 22q11DS.

Franconi CP, McDonald-McGinn D, Zackai EH, McNamara MA, Salmons H 4th, Moss E, Gur RE, Devoto M, Emanuel BS.

Am J Med Genet B Neuropsychiatr Genet. 2016 Dec;171(8):1112-1115. doi: 10.1002/ajmg.b.32492. Epub 2016 Sep 13.

PMID:
27619075
19.

Neurocognitive profile in psychotic versus nonpsychotic individuals with 22q11.2 deletion syndrome.

Weinberger R, Yi J, Calkins M, Guri Y, McDonald-McGinn DM, Emanuel BS, Zackai EH, Ruparel K, Carmel M, Michaelovsky E, Weizman A, Gur RC, Gur RE, Gothelf D.

Eur Neuropsychopharmacol. 2016 Oct;26(10):1610-8. doi: 10.1016/j.euroneuro.2016.08.003. Epub 2016 Aug 12.

PMID:
27524298
20.

Erratum to: 22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening.

Wenger TL, Miller JS, DePolo LM, de Marchena AB, Clements CC, Emanuel BS, Zackai EH, McDonald-McGinn DM, Schultz RT.

Mol Autism. 2016 Jul 13;7:34. doi: 10.1186/s13229-016-0097-5. eCollection 2016. No abstract available.

21.

A catalog of hemizygous variation in 127 22q11 deletion patients.

Hestand MS, Nowakowska BA, Vergaelen E, Van Houdt J, Dehaspe L, Suhl JA, Del-Favero J, Mortier G, Zackai E, Swillen A, Devriendt K, Gur RE, McDonald-McGinn DM, Warren ST, Emanuel BS, Vermeesch JR.

Hum Genome Var. 2016 Jan 14;3:15065. doi: 10.1038/hgv.2015.65. eCollection 2016.

22.

Performance on a computerized neurocognitive battery in 22q11.2 deletion syndrome: A comparison between US and Israeli cohorts.

Yi JJ, Weinberger R, Moore TM, Calkins ME, Guri Y, McDonald-McGinn DM, Zackai EH, Emanuel BS, Gur RE, Gothelf D, Gur RC.

Brain Cogn. 2016 Jul;106:33-41. doi: 10.1016/j.bandc.2016.02.002. Epub 2016 May 17.

23.

22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening.

Wenger TL, Miller JS, DePolo LM, de Marchena AB, Clements CC, Emanuel BS, Zackai EH, McDonald-McGinn DM, Schultz RT.

Mol Autism. 2016 May 6;7:27. doi: 10.1186/s13229-016-0090-z. eCollection 2016. Erratum in: Mol Autism. 2016;7:34.

24.

The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder.

Wenger TL, Kao C, McDonald-McGinn DM, Zackai EH, Bailey A, Schultz RT, Morrow BE, Emanuel BS, Hakonarson H.

Sci Rep. 2016 Jan 19;6:19372. doi: 10.1038/srep19372.

25.

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.

26.

Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome.

Guo T, Chung JH, Wang T, McDonald-McGinn DM, Kates WR, Hawuła W, Coleman K, Zackai E, Emanuel BS, Morrow BE.

Am J Hum Genet. 2015 Dec 3;97(6):869-77. doi: 10.1016/j.ajhg.2015.10.013. Epub 2015 Nov 19.

27.

Impact of psychiatric comorbidity and cognitive deficit on function in 22q11.2 deletion syndrome.

Yi JJ, Calkins ME, Tang SX, Kohler CG, McDonald-McGinn DM, Zackai EH, Savitt AP, Bilker WB, Whinna DA, Souders MC, Emanuel BS, Gur RC, Gur RE.

J Clin Psychiatry. 2015 Oct;76(10):e1262-70. doi: 10.4088/JCP.14m09197.

PMID:
26528648
28.

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.

29.

Mouse and human CRKL is dosage sensitive for cardiac outflow tract formation.

Racedo SE, McDonald-McGinn DM, Chung JH, Goldmuntz E, Zackai E, Emanuel BS, Zhou B, Funke B, Morrow BE.

Am J Hum Genet. 2015 Feb 5;96(2):235-44. doi: 10.1016/j.ajhg.2014.12.025.

30.

Aberrant Cortical Morphometry in the 22q11.2 Deletion Syndrome.

Schmitt JE, Vandekar S, Yi J, Calkins ME, Ruparel K, Roalf DR, Whinna D, Souders MC, Satterwaite TD, Prabhakaran K, McDonald-McGinn DM, Zackai EH, Gur RC, Emanuel BS, Gur RE.

Biol Psychiatry. 2015 Jul 15;78(2):135-43. doi: 10.1016/j.biopsych.2014.10.025. Epub 2014 Nov 21.

31.

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.

32.

Breakpoint analysis of the recurrent constitutional t(8;22)(q24.13;q11.21) translocation.

Mishra D, Kato T, Inagaki H, Kosho T, Wakui K, Kido Y, Sakazume S, Taniguchi-Ikeda M, Morisada N, Iijima K, Fukushima Y, Emanuel BS, Kurahashi H.

Mol Cytogenet. 2014 Aug 13;7:55. doi: 10.1186/s13039-014-0055-x. eCollection 2014.

33.

Subthreshold psychotic symptoms in 22q11.2 deletion syndrome.

Tang SX, Yi JJ, Moore TM, Calkins ME, Kohler CG, Whinna DA, Souders MC, Zackai EH, McDonald-McGinn DM, Emanuel BS, Bilker WB, Gur RC, Gur RE.

J Am Acad Child Adolesc Psychiatry. 2014 Sep;53(9):991-1000.e2. doi: 10.1016/j.jaac.2014.05.009. Epub 2014 Jun 19.

34.

Incidental radiologic findings in the 22q11.2 deletion syndrome.

Schmitt JE, Yi JJ, Roalf DR, Loevner LA, Ruparel K, Whinna D, Souders MC, McDonald-McGinn DM, Yodh E, Vandekar S, Zackai EH, Gur RC, Emanuel BS, Gur RE.

AJNR Am J Neuroradiol. 2014 Nov-Dec;35(11):2186-91. doi: 10.3174/ajnr.A4003. Epub 2014 Jun 19.

35.

Analysis of the t(3;8) of hereditary renal cell carcinoma: a palindrome-mediated translocation.

Kato T, Franconi CP, Sheridan MB, Hacker AM, Inagakai H, Glover TW, Arlt MF, Drabkin HA, Gemmill RM, Kurahashi H, Emanuel BS.

Cancer Genet. 2014 Apr;207(4):133-40. doi: 10.1016/j.cancergen.2014.03.004. Epub 2014 Mar 18.

36.

Further phenotype description, genotype characterization in patients with de novo interstitial deletion on 2p23.2-24.1.

Bloch M, Leonard A, Diplas AA, Pepermans X, Emanuel BS, Santa Rocca M, Revencu N, Sznajer Y.

Am J Med Genet A. 2014 Jul;164A(7):1789-94. doi: 10.1002/ajmg.a.36516. Epub 2014 Apr 3.

PMID:
24700699
37.

Neurocognitive development in 22q11.2 deletion syndrome: comparison with youth having developmental delay and medical comorbidities.

Gur RE, Yi JJ, McDonald-McGinn DM, Tang SX, Calkins ME, Whinna D, Souders MC, Savitt A, Zackai EH, Moberg PJ, Emanuel BS, Gur RC.

Mol Psychiatry. 2014 Nov;19(11):1205-11. doi: 10.1038/mp.2013.189. Epub 2014 Jan 21.

38.

Contribution of congenital heart disease to neuropsychiatric outcome in school-age children with 22q11.2 deletion syndrome.

Yi JJ, Tang SX, McDonald-McGinn DM, Calkins ME, Whinna DA, Souders MC, Zackai EH, Goldmuntz E, Gaynor JW, Gur RC, Emanuel BS, Gur RE.

Am J Med Genet B Neuropsychiatr Genet. 2014 Mar;165B(2):137-47. doi: 10.1002/ajmg.b.32215. Epub 2013 Nov 22.

39.

Psychiatric disorders in 22q11.2 deletion syndrome are prevalent but undertreated.

Tang SX, Yi JJ, Calkins ME, Whinna DA, Kohler CG, Souders MC, McDonald-McGinn DM, Zackai EH, Emanuel BS, Gur RC, Gur RE.

Psychol Med. 2014 Apr;44(6):1267-77. doi: 10.1017/S0033291713001669. Epub 2013 Sep 9.

40.

More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated.

Corsten-Janssen N, Saitta SC, Hoefsloot LH, McDonald-McGinn DM, Driscoll DA, Derks R, Dickinson KA, Kerstjens-Frederikse WS, Emanuel BS, Zackai EH, van Ravenswaaij-Arts CM.

Mol Syndromol. 2013 Jun;4(5):235-45. doi: 10.1159/000351127. Epub 2013 May 28.

41.

A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds.

Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP.

G3 (Bethesda). 2013 Jul 8;3(7):1143-9. doi: 10.1534/g3.113.006577. Erratum in: G3 (Bethesda). 2013 Sep;3(9):1617.

42.

22q11.2 deletions in patients with conotruncal defects: data from 1,610 consecutive cases.

Peyvandi S, Lupo PJ, Garbarini J, Woyciechowski S, Edman S, Emanuel BS, Mitchell LE, Goldmuntz E.

Pediatr Cardiol. 2013 Oct;34(7):1687-94. doi: 10.1007/s00246-013-0694-4. Epub 2013 Apr 21.

43.

Two sequential cleavage reactions on cruciform DNA structures cause palindrome-mediated chromosomal translocations.

Inagaki H, Ohye T, Kogo H, Tsutsumi M, Kato T, Tong M, Emanuel BS, Kurahashi H.

Nat Commun. 2013;4:1592. doi: 10.1038/ncomms2595.

PMID:
23481400
44.

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. 2013 Mar 7;92(3):439-47. doi: 10.1016/j.ajhg.2013.01.018. Epub 2013 Feb 28. Erratum in: Am J Hum Genet. 2013 Apr 4;92(4):637. Jarlbrzkowski, Maria [corrected to Jalbrzikowski, Maria].

45.

22q11.2 Deletion Syndrome.

McDonald-McGinn DM, Emanuel BS, Zackai EH.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
1999 Sep 23 [updated 2013 Feb 28].

46.

Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS.

McDonald-McGinn DM, Fahiminiya S, Revil T, Nowakowska BA, Suhl J, Bailey A, Mlynarski E, Lynch DR, Yan AC, Bilaniuk LT, Sullivan KE, Warren ST, Emanuel BS, Vermeesch JR, Zackai EH, Jerome-Majewska LA.

J Med Genet. 2013 Feb;50(2):80-90. doi: 10.1136/jmedgenet-2012-101320. Epub 2012 Dec 11.

47.

A candidate gene approach to identify modifiers of the palatal phenotype in 22q11.2 deletion syndrome patients.

Widdershoven JC, Bowser M, Sheridan MB, McDonald-McGinn DM, Zackai EH, Solot CB, Kirschner RE, Beemer FA, Morrow BE, Devoto M, Emanuel BS.

Int J Pediatr Otorhinolaryngol. 2013 Jan;77(1):123-7. doi: 10.1016/j.ijporl.2012.10.009. Epub 2012 Oct 31.

48.

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.

49.

The human genome: a diamond in the rough.

Emanuel BS, Warren ST, Garber KB.

Curr Opin Genet Dev. 2012 Jun;22(3):189-90. doi: 10.1016/j.gde.2012.04.005. Epub 2012 May 18. No abstract available.

PMID:
22608825
50.

Chromosomal translocations and palindromic AT-rich repeats.

Kato T, Kurahashi H, Emanuel BS.

Curr Opin Genet Dev. 2012 Jun;22(3):221-8. doi: 10.1016/j.gde.2012.02.004. Epub 2012 Mar 6. Review.

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