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Year Number of Results
2014 1
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2018 3
2019 3
2020 2
2022 2
2023 1
2024 0

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Page 1
Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications.
Ewans LJ, Colley A, Gaston-Massuet C, Gualtieri A, Cowley MJ, McCabe MJ, Anand D, Lachke SA, Scietti L, Forneris F, Zhu Y, Ying K, Walsh C, Kirk EP, Miller D, Giunta C, Sillence D, Dinger M, Buckley M, Roscioli T. Ewans LJ, et al. Among authors: ying k. J Med Genet. 2019 Sep;56(9):629-638. doi: 10.1136/jmedgenet-2019-106019. Epub 2019 May 25. J Med Genet. 2019. PMID: 31129566 Review.
Saliva and Lung Microbiome Associations with Electronic Cigarette Use and Smoking.
Ying KL, Brasky TM, Freudenheim JL, McElroy JP, Nickerson QA, Song MA, Weng DY, Wewers MD, Whiteman NB, Mathe EA, Shields PG. Ying KL, et al. Cancer Prev Res (Phila). 2022 Jul 5;15(7):435-446. doi: 10.1158/1940-6207.CAPR-21-0601. Cancer Prev Res (Phila). 2022. PMID: 35667088 Free PMC article.
Biomarkers of Exposure and Effect in the Lungs of Smokers, Nonsmokers, and Electronic Cigarette Users.
Song MA, Freudenheim JL, Brasky TM, Mathe EA, McElroy JP, Nickerson QA, Reisinger SA, Smiraglia DJ, Weng DY, Ying KL, Wewers MD, Shields PG. Song MA, et al. Among authors: ying kl. Cancer Epidemiol Biomarkers Prev. 2020 Feb;29(2):443-451. doi: 10.1158/1055-9965.EPI-19-1245. Epub 2019 Dec 17. Cancer Epidemiol Biomarkers Prev. 2020. PMID: 31848205 Free PMC article.
Development and validation of a targeted gene sequencing panel for application to disparate cancers.
McCabe MJ, Gauthier MA, Chan CL, Thompson TJ, De Sousa SMC, Puttick C, Grady JP, Gayevskiy V, Tao J, Ying K, Cipponi A, Deng N, Swarbrick A, Thomas ML, Lord RV, Johns AL, Kohonen-Corish M, O'Toole SA, Clark J, Mueller SA, Gupta R, McCormack AI, Dinger ME, Cowley MJ; kConFab. McCabe MJ, et al. Among authors: ying k. Sci Rep. 2019 Nov 19;9(1):17052. doi: 10.1038/s41598-019-52000-3. Sci Rep. 2019. PMID: 31745186 Free PMC article.
A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.
Gennarino VA, Palmer EE, McDonell LM, Wang L, Adamski CJ, Koire A, See L, Chen CA, Schaaf CP, Rosenfeld JA, Panzer JA, Moog U, Hao S, Bye A, Kirk EP, Stankiewicz P, Breman AM, McBride A, Kandula T, Dubbs HA, Macintosh R, Cardamone M, Zhu Y, Ying K, Dias KR, Cho MT, Henderson LB, Baskin B, Morris P, Tao J, Cowley MJ, Dinger ME, Roscioli T, Caluseriu O, Suchowersky O, Sachdev RK, Lichtarge O, Tang J, Boycott KM, Holder JL Jr, Zoghbi HY. Gennarino VA, et al. Among authors: ying k. Cell. 2018 Feb 22;172(5):924-936.e11. doi: 10.1016/j.cell.2018.02.006. Cell. 2018. PMID: 29474920 Free PMC article.
A Pilot Cross-Sectional Study of Immunological and Microbiome Profiling Reveals Distinct Inflammatory Profiles for Smokers, Electronic Cigarette Users, and Never-Smokers.
Shields PG, Ying KL, Brasky TM, Freudenheim JL, Li Z, McElroy JP, Reisinger SA, Song MA, Weng DY, Wewers MD, Whiteman NB, Yang Y, Mathé EA. Shields PG, et al. Among authors: ying kl. Microorganisms. 2023 May 26;11(6):1405. doi: 10.3390/microorganisms11061405. Microorganisms. 2023. PMID: 37374908 Free PMC article.
Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders.
Ewans LJ, Schofield D, Shrestha R, Zhu Y, Gayevskiy V, Ying K, Walsh C, Lee E, Kirk EP, Colley A, Ellaway C, Turner A, Mowat D, Worgan L, Freckmann ML, Lipke M, Sachdev R, Miller D, Field M, Dinger ME, Buckley MF, Cowley MJ, Roscioli T. Ewans LJ, et al. Among authors: ying k. Genet Med. 2018 Dec;20(12):1564-1574. doi: 10.1038/gim.2018.39. Epub 2018 Mar 29. Genet Med. 2018. PMID: 29595814 Free article.
12 results