Deak KL[au] - Search Results

Year	Number of Results
2005	2
2006	1
2007	1
2008	2
2011	1
2013	1
2014	1
2018	1
2019	1
2020	4
2021	4
2022	1

1

Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG).

Del Gaudio D, Shinawi M, Astbury C, Tayeh MK, Deak KL, Raca G; ACMG Laboratory Quality Assurance Committee. Del Gaudio D, et al. Among authors: deak kl. Genet Med. 2020 Jul;22(7):1133-1141. doi: 10.1038/s41436-020-0782-9. Epub 2020 Apr 16. Genet Med. 2020. PMID: 32296163 Free article. No abstract available.

2

A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III.

Hijazi G, Paschall A, Young SP, Smith B, Case LE, Boggs T, Amarasekara S, Austin SL, Pendyal S, El-Gharbawy A, Deak KL, Muir AJ, Kishnani PS. Hijazi G, et al. Among authors: deak kl. Mol Genet Metab Rep. 2021 Nov 11;29:100821. doi: 10.1016/j.ymgmr.2021.100821. eCollection 2021 Dec. Mol Genet Metab Rep. 2021. PMID: 34820282 Free PMC article.

3

Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses.

Schoch K, Tan QK, Stong N, Deak KL, McConkie-Rosell A, McDonald MT; Undiagnosed Diseases Network, Goldstein DB, Jiang YH, Shashi V. Schoch K, et al. Among authors: deak kl. Genet Med. 2020 Jul;22(7):1269-1275. doi: 10.1038/s41436-020-0781-x. Epub 2020 May 5. Genet Med. 2020. PMID: 32366967 Free PMC article.

4

The evolving picture of microdeletion/microduplication syndromes in the age of microarray analysis: variable expressivity and genomic complexity.

Deak KL, Horn SR, Rehder CW. Deak KL, et al. Clin Lab Med. 2011 Dec;31(4):543-64, viii. doi: 10.1016/j.cll.2011.08.008. Epub 2011 Oct 20. Clin Lab Med. 2011. PMID: 22118736 Review.

5

Next-Generation Sequencing Concordance Analysis of Comprehensive Solid Tumor Profiling between a Centralized Specialty Laboratory and the Decentralized Personal Genome Diagnostics elio Tissue Complete Kitted Solution.

Deak KL, Jackson JB, Valkenburg KC, Keefer LA, Robinson Gerding KM, Angiuoli SV, Datto MB, McCall SJ. Deak KL, et al. J Mol Diagn. 2021 Oct;23(10):1324-1333. doi: 10.1016/j.jmoldx.2021.07.004. Epub 2021 Jul 24. J Mol Diagn. 2021. PMID: 34314880 Free PMC article.

6

An Unusual Association: Total Anomalous Pulmonary Venous Return and Aortic Arch Obstruction in Patients with Cat Eye Syndrome.

Williams JL, McDonald MT, Seifert BA, Deak KL, Rehder CW, Campbell MJ. Williams JL, et al. Among authors: deak kl. J Pediatr Genet. 2021 Mar;10(1):35-38. doi: 10.1055/s-0039-1701020. Epub 2020 Jan 20. J Pediatr Genet. 2021. PMID: 33552636 Free PMC article.

7

CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age.

Mizumoto S, Janecke AR, Sadeghpour A, Povysil G, McDonald MT, Unger S, Greber-Platzer S, Deak KL, Katsanis N, Superti-Furga A, Sugahara K, Davis EE, Yamada S, Vodopiutz J. Mizumoto S, et al. Among authors: deak kl. Hum Mutat. 2020 Mar;41(3):655-667. doi: 10.1002/humu.23952. Epub 2019 Dec 3. Hum Mutat. 2020. PMID: 31705726 Free PMC article.

8

Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.

Liu N, Schoch K, Luo X, Pena LDM, Bhavana VH, Kukolich MK, Stringer S, Powis Z, Radtke K, Mroske C, Deak KL, McDonald MT, McConkie-Rosell A, Markert ML, Kranz PG, Stong N, Need AC, Bick D, Amaral MD, Worthey EA, Levy S; Undiagnosed Diseases Network (UDN), Wangler MF, Bellen HJ, Shashi V, Yamamoto S. Liu N, et al. Among authors: deak kl. Hum Mol Genet. 2018 Jul 15;27(14):2454-2465. doi: 10.1093/hmg/ddy146. Hum Mol Genet. 2018. PMID: 29726930 Free PMC article.

9

False positives in multiplex PCR-based next-generation sequencing have unique signatures.

McCall CM, Mosier S, Thiess M, Debeljak M, Pallavajjala A, Beierl K, Deak KL, Datto MB, Gocke CD, Lin MT, Eshleman JR. McCall CM, et al. Among authors: deak kl. J Mol Diagn. 2014 Sep;16(5):541-549. doi: 10.1016/j.jmoldx.2014.06.001. Epub 2014 Jul 11. J Mol Diagn. 2014. PMID: 25017478 Free PMC article.

10

Developmental exposure to valproic acid alters the expression of microRNAs involved in neurodevelopment in zebrafish.

Aluru N, Deak KL, Jenny MJ, Hahn ME. Aluru N, et al. Among authors: deak kl. Neurotoxicol Teratol. 2013 Nov-Dec;40:46-58. doi: 10.1016/j.ntt.2013.10.001. Epub 2013 Oct 12. Neurotoxicol Teratol. 2013. PMID: 24126255 Free PMC article.

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