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The zebrafish kidney mutant zeppelin reveals that brca2/fancd1 is essential for pronephros development.
Kroeger PT Jr, Drummond BE, Miceli R, McKernan M, Gerlach GF, Marra AN, Fox A, McCampbell KK, Leshchiner I, Rodriguez-Mari A, BreMiller R, Thummel R, Davidson AJ, Postlethwait J, Goessling W, Wingert RA. Kroeger PT Jr, et al. Among authors: leshchiner i. Dev Biol. 2017 Aug 1;428(1):148-163. doi: 10.1016/j.ydbio.2017.05.025. Epub 2017 Jun 1. Dev Biol. 2017. PMID: 28579318 Free PMC article.
The RNA helicase Ddx21 controls Vegfc-driven developmental lymphangiogenesis by balancing endothelial cell ribosome biogenesis and p53 function.
Koltowska K, Okuda KS, Gloger M, Rondon-Galeano M, Mason E, Xuan J, Dudczig S, Chen H, Arnold H, Skoczylas R, Bower NI, Paterson S, Lagendijk AK, Baillie GJ, Leshchiner I, Simons C, Smith KA, Goessling W, Heath JK, Pearson RB, Sanij E, Schulte-Merker S, Hogan BM. Koltowska K, et al. Among authors: leshchiner i. Nat Cell Biol. 2021 Nov;23(11):1136-1147. doi: 10.1038/s41556-021-00784-w. Epub 2021 Nov 8. Nat Cell Biol. 2021. PMID: 34750583
Mutation mapping and identification by whole-genome sequencing.
Leshchiner I, Alexa K, Kelsey P, Adzhubei I, Austin-Tse CA, Cooney JD, Anderson H, King MJ, Stottmann RW, Garnaas MK, Ha S, Drummond IA, Paw BH, North TE, Beier DR, Goessling W, Sunyaev SR. Leshchiner I, et al. Genome Res. 2012 Aug;22(8):1541-8. doi: 10.1101/gr.135541.111. Epub 2012 May 3. Genome Res. 2012. PMID: 22555591 Free PMC article.
[No title available]
[No authors listed] [No authors listed] PMID: 34005283
Mutations in RABL3 alter KRAS prenylation and are associated with hereditary pancreatic cancer.
Nissim S, Leshchiner I, Mancias JD, Greenblatt MB, Maertens O, Cassa CA, Rosenfeld JA, Cox AG, Hedgepeth J, Wucherpfennig JI, Kim AJ, Henderson JE, Gonyo P, Brandt A, Lorimer E, Unger B, Prokop JW, Heidel JR, Wang XX, Ukaegbu CI, Jennings BC, Paulo JA, Gableske S, Fierke CA, Getz G, Sunyaev SR, Wade Harper J, Cichowski K, Kimmelman AC, Houvras Y, Syngal S, Williams C, Goessling W. Nissim S, et al. Among authors: leshchiner i. Nat Genet. 2019 Sep;51(9):1308-1314. doi: 10.1038/s41588-019-0475-y. Epub 2019 Aug 12. Nat Genet. 2019. PMID: 31406347 Free PMC article.
An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery.
Haghighi A, Krier JB, Toth-Petroczy A, Cassa CA, Frank NY, Carmichael N, Fieg E, Bjonnes A, Mohanty A, Briere LC, Lincoln S, Lucia S, Gupta VA, Söylemez O, Sutti S, Kooshesh K, Qiu H, Fay CJ, Perroni V, Valerius J, Hanna M, Frank A, Ouahed J, Snapper SB, Pantazi A, Chopra SS, Leshchiner I, Stitziel NO, Feldweg A, Mannstadt M, Loscalzo J, Sweetser DA, Liao E, Stoler JM, Nowak CB, Sanchez-Lara PA, Klein OD, Perry H, Patsopoulos NA, Raychaudhuri S, Goessling W, Green RC, Seidman CE, MacRae CA, Sunyaev SR, Maas RL, Vuzman D; Undiagnosed Diseases Network, Brigham and Women’s Hospital FaceBase Project, Brigham Genomic Medicine (BGM). Haghighi A, et al. Among authors: leshchiner i. NPJ Genom Med. 2018 Aug 13;3:21. doi: 10.1038/s41525-018-0060-9. eCollection 2018. NPJ Genom Med. 2018. PMID: 30131872 Free PMC article. Review.
An argument for early genomic sequencing in atypical cases: a WISP3 variant leads to diagnosis of progressive pseudorheumatoid arthropathy of childhood.
Cassa CA, Smith SE, Docken W, Hoffman E, McLaughlin H, Chun S, Leshchiner I, Miraoui H, Raychaudhuri S, Frank NY, Wilson BJ, Sunyaev SR, Maas RL; Brigham Genomic Medicine; Vuzman D. Cassa CA, et al. Among authors: leshchiner i. Rheumatology (Oxford). 2016 Mar;55(3):586-9. doi: 10.1093/rheumatology/kev367. Epub 2015 Oct 22. Rheumatology (Oxford). 2016. PMID: 26493744 Free PMC article. No abstract available.
111 results