Rena J. Vanzo - Search Results

Year	Number of Results
2012	1
2013	3
2014	4
2015	1
2016	3
2017	1
2018	2
2019	2
2020	1
2024	0

1

A Novel Partial Duplication of ZEB2 and Review of ZEB2 Involvement in Mowat-Wilson Syndrome.

Baxter AL, Vivian JL, Hagelstrom RT, Hossain W, Golden WL, Wassman ER, Vanzo RJ, Butler MG. Baxter AL, et al. Among authors: vanzo rj. Mol Syndromol. 2017 Jun;8(4):211-218. doi: 10.1159/000473693. Epub 2017 May 3. Mol Syndromol. 2017. PMID: 28690488 Free PMC article.

2

Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis.

Prasad A, Sdano MA, Vanzo RJ, Mowery-Rushton PA, Serrano MA, Hensel CH, Wassman ER. Prasad A, et al. Among authors: vanzo rj. BMC Med Genet. 2018 Mar 20;19(1):46. doi: 10.1186/s12881-018-0555-3. BMC Med Genet. 2018. PMID: 29554876 Free PMC article.

3

Mosaic deletion of 20pter due to rescue by somatic recombination.

Martin MM, Vanzo RJ, Sdano MR, Baxter AL, South ST. Martin MM, et al. Among authors: vanzo rj. Am J Med Genet A. 2016 Jan;170A(1):243-8. doi: 10.1002/ajmg.a.37407. Epub 2015 Oct 5. Am J Med Genet A. 2016. PMID: 26436922

4

Clinical significance of copy number variants involving KANK1 in patients with neurodevelopmental disorders.

Vanzo RJ, Twede H, Ho KS, Prasad A, Martin MM, South ST, Wassman ER. Vanzo RJ, et al. Eur J Med Genet. 2019 Jan;62(1):15-20. doi: 10.1016/j.ejmg.2018.04.012. Epub 2018 May 3. Eur J Med Genet. 2019. PMID: 29729439 Free article.

5

Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf-Hirschhorn syndrome.

Ho KS, South ST, Lortz A, Hensel CH, Sdano MR, Vanzo RJ, Martin MM, Peiffer A, Lambert CG, Calhoun A, Carey JC, Battaglia A. Ho KS, et al. Among authors: vanzo rj. J Med Genet. 2016 Apr;53(4):256-63. doi: 10.1136/jmedgenet-2015-103626. Epub 2016 Jan 8. J Med Genet. 2016. PMID: 26747863 Free PMC article.

6

The Temple Grandin Genome: Comprehensive Analysis in a Scientist with High-Functioning Autism.

Vanzo RJ, Prasad A, Staunch L, Hensel CH, Serrano MA, Wassman ER, Kaplun A, Grandin T, Boles RG. Vanzo RJ, et al. J Pers Med. 2020 Dec 29;11(1):21. doi: 10.3390/jpm11010021. J Pers Med. 2020. PMID: 33383702 Free PMC article.

7

Glutaric acidemia type 1: outcomes before and after expanded newborn screening.

Viau K, Ernst SL, Vanzo RJ, Botto LD, Pasquali M, Longo N. Viau K, et al. Among authors: vanzo rj. Mol Genet Metab. 2012 Aug;106(4):430-8. doi: 10.1016/j.ymgme.2012.05.024. Epub 2012 Jun 9. Mol Genet Metab. 2012. PMID: 22728054

8

Correspondence regarding SNX8 haploinsufficiency and its potential for cardiac anomalies including tetralogy of Fallot.

Vanzo RJ, Martin MM, Sdano MR, Teta K, South ST. Vanzo RJ, et al. Am J Med Genet A. 2014 Aug;164A(8):2136-7. doi: 10.1002/ajmg.a.36572. Epub 2014 Apr 14. Am J Med Genet A. 2014. PMID: 24733602 No abstract available.

9

Abnormally Methylated FMR1 in Absence of a Detectable Full Mutation in a U.S.A Patient Cohort Referred for Fragile X Testing.

Hensel CH, Vanzo RJ, Martin MM, Ling L, Aliaga SM, Bui M, Francis DI, Twede H, Field MH, Morison JW, Amor DJ, Godler DE. Hensel CH, et al. Among authors: vanzo rj. Sci Rep. 2019 Oct 25;9(1):15315. doi: 10.1038/s41598-019-51618-7. Sci Rep. 2019. PMID: 31653898 Free PMC article.

10

MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways.

Paciorkowski AR, Traylor RN, Rosenfeld JA, Hoover JM, Harris CJ, Winter S, Lacassie Y, Bialer M, Lamb AN, Schultz RA, Berry-Kravis E, Porter BE, Falk M, Venkat A, Vanzo RJ, Cohen JS, Fatemi A, Dobyns WB, Shaffer LG, Ballif BC, Marsh ED. Paciorkowski AR, et al. Among authors: vanzo rj. Neurogenetics. 2013 May;14(2):99-111. doi: 10.1007/s10048-013-0356-y. Epub 2013 Feb 7. Neurogenetics. 2013. PMID: 23389741 Free PMC article.

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