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Items: 1 to 20 of 75

1.

Reduced dosage of β-catenin provides significant rescue of cardiac outflow tract anomalies in a Tbx1 conditional null mouse model of 22q11.2 deletion syndrome.

Racedo SE, Hasten E, Lin M, Devakanmalai GS, Guo T, Ozbudak EM, Cai CL, Zheng D, Morrow BE.

PLoS Genet. 2017 Mar 27;13(3):e1006687. doi: 10.1371/journal.pgen.1006687. eCollection 2017 Mar.

2.

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.

Lopez-Rivera E, Liu YP, Verbitsky M, Anderson BR, Capone VP, Otto EA, Yan Z, Mitrotti A, Martino J, Steers NJ, Fasel DA, Vukojevic K, Deng R, Racedo SE, Liu Q, Werth M, Westland R, Vivante A, Makar GS, Bodria M, Sampson MG, Gillies CE, Vega-Warner V, Maiorana M, Petrey DS, Honig B, Lozanovski VJ, Salomon R, Heidet L, Carpentier W, Gaillard D, Carrea A, Gesualdo L, Cusi D, Izzi C, Scolari F, van Wijk JA, Arapovic A, Saraga-Babic M, Saraga M, Kunac N, Samii A, McDonald-McGinn DM, Crowley TB, Zackai EH, Drozdz D, Miklaszewska M, Tkaczyk M, Sikora P, Szczepanska M, Mizerska-Wasiak M, Krzemien G, Szmigielska A, Zaniew M, Darlow JM, Puri P, Barton D, Casolari E, Furth SL, Warady BA, Gucev Z, Hakonarson H, Flogelova H, Tasic V, Latos-Bielenska A, Materna-Kiryluk A, Allegri L, Wong CS, Drummond IA, D'Agati V, Imamoto A, Barasch JM, Hildebrandt F, Kiryluk K, Lifton RP, Morrow BE, Jeanpierre C, Papaioannou VE, Ghiggeri GM, Gharavi AG, Katsanis N, Sanna-Cherchi S.

N Engl J Med. 2017 Feb 23;376(8):742-754. doi: 10.1056/NEJMoa1609009. Epub 2017 Jan 25.

PMID:
28121514
3.

A Pedigree-Based Map of Recombination in the Domestic Dog Genome.

Campbell CL, Bhérer C, Morrow BE, Boyko AR, Auton A.

G3 (Bethesda). 2016 Sep 2. pii: g3.116.034678. doi: 10.1534/g3.116.034678. [Epub ahead of print]

4.

Variant discovery and breakpoint region prediction for studying the human 22q11.2 deletion using BAC clone and whole genome sequencing analysis.

Guo X, Delio M, Haque N, Castellanos R, Hestand MS, Vermeesch JR, Morrow BE, Zheng D.

Hum Mol Genet. 2016 Sep 1;25(17):3754-3767. doi: 10.1093/hmg/ddw221. Epub 2016 Jul 19.

PMID:
27436579
5.

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.

6.

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.

7.

Genetic analysis of nonalcoholic fatty liver disease within a Caribbean-Hispanic population.

Edelman D, Kalia H, Delio M, Alani M, Krishnamurthy K, Abd M, Auton A, Wang T, Wolkoff AW, Morrow BE.

Mol Genet Genomic Med. 2015 Aug 11;3(6):558-69. doi: 10.1002/mgg3.168. eCollection 2015 Nov.

8.

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.

9.

Correction: A Novel C-Terminal CIB2 (Calcium and Integrin Binding Protein 2) Mutation Associated with Non-Syndromic Hearing Loss in a Hispanic Family.

Patel K, Giese AP, Grossheim JM, Hegde RS, Delio M, Samanich J, Riazuddin S, Frolenkov GI, Cai J, Ahmed ZM, Morrow BE.

PLoS One. 2015 Oct 16;10(10):e0141259. doi: 10.1371/journal.pone.0141259. eCollection 2015. No abstract available.

10.

A Novel C-Terminal CIB2 (Calcium and Integrin Binding Protein 2) Mutation Associated with Non-Syndromic Hearing Loss in a Hispanic Family.

Patel K, Giese AP, Grossheim JM, Hegde RS, Delio M, Samanich J, Riazuddin S, Frolenkov GI, Cai J, Ahmed ZM, Morrow BE.

PLoS One. 2015 Oct 1;10(10):e0133082. doi: 10.1371/journal.pone.0133082. eCollection 2015. Erratum in: PLoS One. 2015;10(10):e0141259. Hegde, Rashima S [corrected to Hegde, Rashmi S].

11.

Whole-Genome Sequencing and Integrative Genomic Analysis Approach on Two 22q11.2 Deletion Syndrome Family Trios for Genotype to Phenotype Correlations.

Chung JH, Cai J, Suskin BG, Zhang Z, Coleman K, Morrow BE.

Hum Mutat. 2015 Aug;36(8):797-807. doi: 10.1002/humu.22814. Epub 2015 Jul 2.

12.

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.

13.

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.

14.

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.

15.

Association between autism spectrum disorder in individuals with velocardiofacial (22q11.2 deletion) syndrome and PRODH and COMT genotypes.

Radoeva PD, Coman IL, Salazar CA, Gentile KL, Higgins AM, Middleton FA, Antshel KM, Fremont W, Shprintzen RJ, Morrow BE, Kates WR.

Psychiatr Genet. 2014 Dec;24(6):269-72. doi: 10.1097/YPG.0000000000000062.

16.

Mammalian TBX1 preferentially binds and regulates downstream targets via a tandem T-site repeat.

Castellanos R, Xie Q, Zheng D, Cvekl A, Morrow BE.

PLoS One. 2014 May 5;9(5):e95151. doi: 10.1371/journal.pone.0095151. eCollection 2014.

17.

Tbx1 is required autonomously for cell survival and fate in the pharyngeal core mesoderm to form the muscles of mastication.

Kong P, Racedo SE, Macchiarulo S, Hu Z, Carpenter C, Guo T, Wang T, Zheng D, Morrow BE.

Hum Mol Genet. 2014 Aug 15;23(16):4215-31. doi: 10.1093/hmg/ddu140. Epub 2014 Apr 4.

18.

Identification of critical regions and candidate genes for cardiovascular malformations and cardiomyopathy associated with deletions of chromosome 1p36.

Zaveri HP, Beck TF, Hernández-García A, Shelly KE, Montgomery T, van Haeringen A, Anderlid BM, Patel C, Goel H, Houge G, Morrow BE, Cheung SW, Lalani SR, Scott DA.

PLoS One. 2014 Jan 15;9(1):e85600. doi: 10.1371/journal.pone.0085600. eCollection 2014.

19.

Conditional and constitutive expression of a Tbx1-GFP fusion protein in mice.

Freyer L, Nowotschin S, Pirity MK, Baldini A, Morrow BE.

BMC Dev Biol. 2013 Aug 23;13:33. doi: 10.1186/1471-213X-13-33.

20.

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].

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