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Page 1
Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies.
Palmer EE, Sachdev R, Macintosh R, Melo US, Mundlos S, Righetti S, Kandula T, Minoche AE, Puttick C, Gayevskiy V, Hesson L, Idrisoglu S, Shoubridge C, Thai MHN, Davis RL, Drew AP, Sampaio H, Andrews PI, Lawson J, Cardamone M, Mowat D, Colley A, Kummerfeld S, Dinger ME, Cowley MJ, Roscioli T, Bye A, Kirk E. Palmer EE, et al. Among authors: kummerfeld s. Neurology. 2021 Mar 30;96(13):e1770-e1782. doi: 10.1212/WNL.0000000000011655. Epub 2021 Feb 10. Neurology. 2021. PMID: 33568551
AGEMAP: a gene expression database for aging in mice.
Zahn JM, Poosala S, Owen AB, Ingram DK, Lustig A, Carter A, Weeraratna AT, Taub DD, Gorospe M, Mazan-Mamczarz K, Lakatta EG, Boheler KR, Xu X, Mattson MP, Falco G, Ko MS, Schlessinger D, Firman J, Kummerfeld SK, Wood WH 3rd, Zonderman AB, Kim SK, Becker KG. Zahn JM, et al. Among authors: kummerfeld sk. PLoS Genet. 2007 Nov;3(11):e201. doi: 10.1371/journal.pgen.0030201. Epub 2007 Oct 2. PLoS Genet. 2007. PMID: 18081424 Free PMC article.
Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes.
Kumar KR, Davis RL, Tchan MC, Wali GM, Mahant N, Ng K, Kotschet K, Siow SF, Gu J, Walls Z, Kang C, Wali G, Levy S, Phua CS, Yiannikas C, Darveniza P, Chang FCF, Morales-Briceño H, Rowe DB, Drew A, Gayevskiy V, Cowley MJ, Minoche AE, Tisch S, Hayes M, Kummerfeld S, Fung VSC, Sue CM. Kumar KR, et al. Among authors: kummerfeld s. Parkinsonism Relat Disord. 2019 Dec;69:111-118. doi: 10.1016/j.parkreldis.2019.11.004. Epub 2019 Nov 7. Parkinsonism Relat Disord. 2019. PMID: 31731261 Free article.
Molecular patterns in salivary duct carcinoma identify prognostic subgroups.
Mueller SA, Gauthier MA, Blackburn J, Grady JP, Kraitsek S, Hajdu E, Dettmer MS, Dahlstrom JE, Lee CS, Luk PP, Yu B, Giger R, Kummerfeld S, Clark JR, Gupta R, Cowley MJ. Mueller SA, et al. Among authors: kummerfeld s. Mod Pathol. 2020 Oct;33(10):1896-1909. doi: 10.1038/s41379-020-0576-2. Epub 2020 May 26. Mod Pathol. 2020. PMID: 32457410 Free 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.
Human genomic DNA is widely interspersed with i-motif structures.
Peña Martinez CD, Zeraati M, Rouet R, Mazigi O, Henry JY, Gloss B, Kretzmann JA, Evans CW, Ruggiero E, Zanin I, Marušič M, Plavec J, Richter SN, Bryan TM, Smith NM, Dinger ME, Kummerfeld S, Christ D. Peña Martinez CD, et al. Among authors: kummerfeld s. EMBO J. 2024 Oct;43(20):4786-4804. doi: 10.1038/s44318-024-00210-5. Epub 2024 Aug 29. EMBO J. 2024. PMID: 39210146 Free PMC 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.
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.
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