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Quantitative ctDNA Detection in Hepatoblastoma: Implications for Precision Medicine.
Kahana-Edwin S, Torpy J, Cain LE, Mullins A, McCowage G, Woodfield SE, Vasudevan SA, Shea DPT, Minoche AE, Espinoza AF, Kummerfeld S, Goldstein LD, Karpelowsky J. Kahana-Edwin S, et al. Among authors: kummerfeld s. Cancers (Basel). 2023 Dec 19;16(1):12. doi: 10.3390/cancers16010012. Cancers (Basel). 2023. PMID: 38201440 Free PMC article.
Low disease risk and penetrance in Leber hereditary optic neuropathy.
Watson EC, Davis RL, Ravishankar S, Copty J, Kummerfeld S, Sue CM. Watson EC, et al. Among authors: kummerfeld s. Am J Hum Genet. 2023 Jan 5;110(1):166-169. doi: 10.1016/j.ajhg.2022.11.013. Epub 2022 Dec 23. Am J Hum Genet. 2023. PMID: 36565700 Free PMC article.
A universal molecular control for DNA, mRNA and protein expression.
Gunter HM, Youlten SE, Reis ALM, McCubbin T, Madala BS, Wong T, Stevanovski I, Cipponi A, Deveson IW, Santini NS, Kummerfeld S, Croucher PI, Marcellin E, Mercer TR. Gunter HM, et al. Among authors: kummerfeld s. Nat Commun. 2024 Mar 20;15(1):2480. doi: 10.1038/s41467-024-46456-9. Nat Commun. 2024. PMID: 38509097 Free PMC article.
Community Genetics screening in a pandemic: solutions for pre-test education, informed consent, and specimen collection.
Terrill B, McKnight L, Pearce A, Gordon H, Lo W, Lee IJ, Runiewicz M, Palmer A, Andrews L, Kirk E, Goldberg D, Tucker J, Murray D, Kaplan W, Kummerfeld S, Burnett L. Terrill B, et al. Among authors: kummerfeld s. Eur J Hum Genet. 2023 Mar;31(3):257-261. doi: 10.1038/s41431-022-01251-2. Epub 2023 Jan 11. Eur J Hum Genet. 2023. PMID: 36631541 Free PMC article.
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
Bournazos AM, Riley LG, Bommireddipalli S, Ades L, Akesson LS, Al-Shinnag M, Alexander SI, Archibald AD, Balasubramaniam S, Berman Y, Beshay V, Boggs K, Bojadzieva J, Brown NJ, Bryen SJ, Buckley MF, Chong B, Davis MR, Dawes R, Delatycki M, Donaldson L, Downie L, Edwards C, Edwards M, Engel A, Ewans LJ, Faiz F, Fennell A, Field M, Freckmann ML, Gallacher L, Gear R, Goel H, Goh S, Goodwin L, Hanna B, Harraway J, Higgins M, Ho G, Hopper BK, Horton AE, Hunter MF, Huq AJ, Josephi-Taylor S, Joshi H, Kirk E, Krzesinski E, Kumar KR, Lemckert F, Leventer RJ, Lindsey-Temple SE, Lunke S, Ma A, Macaskill S, Mallawaarachchi A, Marty M, Marum JE, McCarthy HJ, Menezes MP, McLean A, Milnes D, Mohammad S, Mowat D, Niaz A, Palmer EE, Patel C, Patel SG, Phelan D, Pinner JR, Rajagopalan S, Regan M, Rodgers J, Rodrigues M, Roxburgh RH, Sachdev R, Roscioli T, Samarasekera R, Sandaradura SA, Savva E, Schindler T, Shah M, Sinnerbrink IB, Smith JM, Smith RJ, Springer A, Stark Z, Strom SP, Sue CM, Tan K, Tan TY, Tantsis E, Tchan MC, Thompson BA, Trainer AH, van Spaendonck-Zwarts K, Walsh R, Warwick L, White S, White SM, Williams MG, Wilson MJ, Wong WK, Wright DC, Yap P, Yeung A, Young H, Jones KJ, Bennetts… See abstract for full author list ➔ Bournazos AM, et al. Genet Med. 2022 Jan;24(1):130-145. doi: 10.1016/j.gim.2021.09.001. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906502 Free article.
Hyper-IgE Syndrome due to an Elusive Novel Intronic Homozygous Variant in DOCK8.
Tangye SG, Gray PE, Pillay BA, Yap JY, Figgett WA, Reeves J, Kummerfeld SK, Stoddard J, Uzel G, Jing H, Su HC, Campbell DE, Sullivan A, Burnett L, Peake J, Ma CS. Tangye SG, et al. Among authors: kummerfeld sk. J Clin Immunol. 2022 Jan;42(1):119-129. doi: 10.1007/s10875-021-01152-x. Epub 2021 Oct 17. J Clin Immunol. 2022. PMID: 34657245 Free PMC article.
46 results