Ouyang K - Search Results

1

Frequency of Cystic Fibrosis Transmembrane Conductance Regulator Variants in Individuals Evaluated for Primary Ciliary Dyskinesia.

Hannah WB, Truty R, Gonzales V, Kithcart GP, Ouyang K, Zeman MK, Li C, Drumm M, Nykamp K, Gaston BM. Hannah WB, et al. Among authors: ouyang k. J Pediatr. 2019 Dec;215:172-177.e2. doi: 10.1016/j.jpeds.2019.08.039. Epub 2019 Oct 11. J Pediatr. 2019. PMID: 31610925

2

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group; Topper S. Nykamp K, et al. Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Genet Med. 2017. PMID: 28492532 Free PMC article.

3

Correction: Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group; Topper S. Nykamp K, et al. Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9. Genet Med. 2020. PMID: 31346256 Free PMC article.

4

Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation.

Truty R, Ouyang K, Rojahn S, Garcia S, Colavin A, Hamlington B, Freivogel M, Nussbaum RL, Nykamp K, Aradhya S. Truty R, et al. Among authors: ouyang k. Am J Hum Genet. 2021 Apr 1;108(4):696-708. doi: 10.1016/j.ajhg.2021.03.006. Epub 2021 Mar 19. Am J Hum Genet. 2021. PMID: 33743207 Free PMC article.

5

Fumarate hydratase variant prevalence and manifestations among individuals receiving germline testing.

Lu E, Hatchell KE, Nielsen SM, Esplin ED, Ouyang K, Nykamp K, Zavoshi S, Li S, Zhang L, Wilde BR, Christofk HR, Boutros PC, Shuch B. Lu E, et al. Among authors: ouyang k. Cancer. 2022 Feb 15;128(4):675-684. doi: 10.1002/cncr.33997. Epub 2021 Nov 1. Cancer. 2022. PMID: 34724198 Free PMC article.

6

Systematic use of phenotype evidence in clinical genetic testing reduces the frequency of variants of uncertain significance.

Johnson B, Ouyang K, Frank L, Truty R, Rojahn S, Morales A, Aradhya S, Nykamp K. Johnson B, et al. Among authors: ouyang k. Am J Med Genet A. 2022 Sep;188(9):2642-2651. doi: 10.1002/ajmg.a.62779. Epub 2022 May 16. Am J Med Genet A. 2022. PMID: 35570716 Free PMC article.

7

Fumarate Hydratase Variants and Their Association With Paraganglioma/Pheochromocytoma.

Zavoshi S, Lu E, Boutros PC, Zhang L, Harari A, Hatchell KE, Nielsen SM, Esplin ED, Ouyang K, Nykamp K, Wilde B, Christofk H, Shuch B. Zavoshi S, et al. Among authors: ouyang k. Urology. 2023 Jun;176:106-114. doi: 10.1016/j.urology.2022.11.053. Epub 2023 Feb 10. Urology. 2023. PMID: 36773955 Free article.

8

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: ouyang k. 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.

9

FH Variant Pathogenicity Promotes Purine Salvage Pathway Dependence in Kidney Cancer.

Wilde BR, Chakraborty N, Matulionis N, Hernandez S, Ueno D, Gee ME, Esplin ED, Ouyang K, Nykamp K, Shuch B, Christofk HR. Wilde BR, et al. Among authors: ouyang k. Cancer Discov. 2023 Sep 6;13(9):2072-2089. doi: 10.1158/2159-8290.CD-22-0874. Cancer Discov. 2023. PMID: 37255402 Free PMC article.

10

Expanded Gene Panel Use for Women With Breast Cancer: Identification and Intervention Beyond Breast Cancer Risk.

O'Leary E, Iacoboni D, Holle J, Michalski ST, Esplin ED, Yang S, Ouyang K. O'Leary E, et al. Among authors: ouyang k. Ann Surg Oncol. 2017 Oct;24(10):3060-3066. doi: 10.1245/s10434-017-5963-7. Epub 2017 Aug 1. Ann Surg Oncol. 2017. PMID: 28766213 Free PMC article.

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