Saitta S - Search Results

1

Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals.

Truty R, Rojahn S, Ouyang K, Kautzer C, Kennemer M, Pineda-Alvarez D, Johnson B, Stafford A, Basel-Salmon L, Saitta S, Slavotinek A, Chandrasekharappa SC, Suarez CJ, Burnett L, Nussbaum RL, Aradhya S. Truty R, et al. Among authors: saitta s. Am J Hum Genet. 2023 Apr 6;110(4):551-564. doi: 10.1016/j.ajhg.2023.02.013. Epub 2023 Mar 17. Am J Hum Genet. 2023. PMID: 36933558 Free PMC article.

2

Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects.

Boyle L, Wamelink MMC, Salomons GS, Roos B, Pop A, Dauber A, Hwa V, Andrew M, Douglas J, Feingold M, Kramer N, Saitta S, Retterer K, Cho MT, Begtrup A, Monaghan KG, Wynn J, Chung WK. Boyle L, et al. Among authors: saitta s. Am J Hum Genet. 2016 Jun 2;98(6):1235-1242. doi: 10.1016/j.ajhg.2016.03.030. Am J Hum Genet. 2016. PMID: 27259054 Free PMC article.

3

Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma.

Ji J, Quindipan C, Parham D, Shen L, Ruble D, Bootwalla M, Maglinte DT, Gai X, Saitta SC, Biegel JA, Mascarenhas L. Ji J, et al. Am J Med Genet A. 2017 May;173(5):1390-1395. doi: 10.1002/ajmg.a.38184. Epub 2017 Mar 28. Am J Med Genet A. 2017. PMID: 28371217 Free PMC article.

4

Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion.

Saitta SC, Harris SE, Gaeth AP, Driscoll DA, McDonald-McGinn DM, Maisenbacher MK, Yersak JM, Chakraborty PK, Hacker AM, Zackai EH, Ashley T, Emanuel BS. Saitta SC, et al. Hum Mol Genet. 2004 Feb 15;13(4):417-28. doi: 10.1093/hmg/ddh041. Epub 2003 Dec 17. Hum Mol Genet. 2004. PMID: 14681306 Free PMC article.

5

Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy.

Kalish JM, Conlin LK, Bhatti TR, Dubbs HA, Harris MC, Izumi K, Mostoufi-Moab S, Mulchandani S, Saitta S, States LJ, Swarr DT, Wilkens AB, Zackai EH, Zelley K, Bartolomei MS, Nichols KE, Palladino AA, Spinner NB, Deardorff MA. Kalish JM, et al. Among authors: saitta s. Am J Med Genet A. 2013 Aug;161A(8):1929-39. doi: 10.1002/ajmg.a.36045. Epub 2013 Jun 26. Am J Med Genet A. 2013. PMID: 23804593 Free PMC article.

6

Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis.

Shaikh TH, Kurahashi H, Saitta SC, O'Hare AM, Hu P, Roe BA, Driscoll DA, McDonald-McGinn DM, Zackai EH, Budarf ML, Emanuel BS. Shaikh TH, et al. Among authors: saitta sc. Hum Mol Genet. 2000 Mar 1;9(4):489-501. doi: 10.1093/hmg/9.4.489. Hum Mol Genet. 2000. PMID: 10699172

7

Embryonal rhabdomyosarcoma in a patient with a germline CBL pathogenic variant.

Ji J, Navid F, Hiemenz MC, Kaneko M, Zhou S, Saitta SC, Biegel JA. Ji J, et al. Among authors: saitta sc. Cancer Genet. 2019 Feb;231-232:62-66. doi: 10.1016/j.cancergen.2018.12.006. Epub 2018 Dec 30. Cancer Genet. 2019. PMID: 30803559 Free PMC article.

8

Custom Pediatric Oncology Next-Generation Sequencing Panel Identifies Somatic Mosaicism in Archival Tissue and Enhances Targeted Clinical Care.

Quindipan C, Cotter JA, Ji J, Mitchell WG, Moke DJ, Navid F, Thomas SM, VanHirtum-Das M, Wang L, Saitta SC, Biegel JA, Hiemenz MC. Quindipan C, et al. Pediatr Neurol. 2021 Jan;114:55-59. doi: 10.1016/j.pediatrneurol.2020.09.015. Epub 2020 Oct 2. Pediatr Neurol. 2021. PMID: 33221597

9

High-Resolution genomic arrays identify CNVs that phenocopy the chromosome 22q11.2 deletion syndrome.

Busse T, Graham JM Jr, Feldman G, Perin J, Catherwood A, Knowlton R, Rappaport EF, Emanuel B, Driscoll DA, Saitta SC. Busse T, et al. Hum Mutat. 2011 Jan;32(1):91-7. doi: 10.1002/humu.21395. Hum Mutat. 2011. PMID: 21120947

10

Duplication 12p and Pallister-Killian syndrome: a case report and review of the literature toward defining a Pallister-Killian syndrome minimal critical region.

Izumi K, Conlin LK, Berrodin D, Fincher C, Wilkens A, Haldeman-Englert C, Saitta SC, Zackai EH, Spinner NB, Krantz ID. Izumi K, et al. Am J Med Genet A. 2012 Dec;158A(12):3033-45. doi: 10.1002/ajmg.a.35500. Epub 2012 Nov 20. Am J Med Genet A. 2012. PMID: 23169682

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