Nykamp K - Search Results

1

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: nykamp 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.

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

Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.

Truty R, Patil N, Sankar R, Sullivan J, Millichap J, Carvill G, Entezam A, Esplin ED, Fuller A, Hogue M, Johnson B, Khouzam A, Kobayashi Y, Lewis R, Nykamp K, Riethmaier D, Westbrook J, Zeman M, Nussbaum RL, Aradhya S. Truty R, et al. Among authors: nykamp k. Epilepsia Open. 2019 Jul 1;4(3):397-408. doi: 10.1002/epi4.12348. eCollection 2019 Sep. Epilepsia Open. 2019. PMID: 31440721 Free PMC article.

4

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: nykamp 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

5

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: nykamp 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.

6

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: nykamp 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.

7

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: nykamp 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.

8

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: nykamp 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.

9

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.

10

A Systematic Method for Detecting Abnormal mRNA Splicing and Assessing Its Clinical Impact in Individuals Undergoing Genetic Testing for Hereditary Cancer Syndromes.

Kamps-Hughes N, Carlton VEH, Fresard L, Osazuwa S, Starks E, Vincent JJ, Albritton S, Nussbaum RL, Nykamp K. Kamps-Hughes N, et al. Among authors: nykamp k. J Mol Diagn. 2023 Mar;25(3):156-167. doi: 10.1016/j.jmoldx.2022.12.002. Epub 2022 Dec 21. J Mol Diagn. 2023. PMID: 36563937 Free article.

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