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114 results

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Page 1
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.
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.
Paired exome analysis of Barrett's esophagus and adenocarcinoma.
Stachler MD, Taylor-Weiner A, Peng S, McKenna A, Agoston AT, Odze RD, Davison JM, Nason KS, Loda M, Leshchiner I, Stewart C, Stojanov P, Seepo S, Lawrence MS, Ferrer-Torres D, Lin J, Chang AC, Gabriel SB, Lander ES, Beer DG, Getz G, Carter SL, Bass AJ. Stachler MD, et al. Among authors: leshchiner i. Nat Genet. 2015 Sep;47(9):1047-55. doi: 10.1038/ng.3343. Epub 2015 Jul 20. Nat Genet. 2015. PMID: 26192918 Free PMC article.
Inherited CHST11/MIR3922 deletion is associated with a novel recessive syndrome presenting with skeletal malformation and malignant lymphoproliferative disease.
Chopra SS, Leshchiner I, Duzkale H, McLaughlin H, Giovanni M, Zhang C, Stitziel N, Fingeroth J, Joyce RM, Lebo M, Rehm H, Vuzman D, Maas R, Sunyaev SR, Murray M, Cassa CA. Chopra SS, et al. Among authors: leshchiner i. Mol Genet Genomic Med. 2015 Sep;3(5):413-23. doi: 10.1002/mgg3.152. Epub 2015 May 10. Mol Genet Genomic Med. 2015. PMID: 26436107 Free PMC article.
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.
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.
A mutational signature reveals alterations underlying deficient homologous recombination repair in breast cancer.
Polak P, Kim J, Braunstein LZ, Karlic R, Haradhavala NJ, Tiao G, Rosebrock D, Livitz D, Kübler K, Mouw KW, Kamburov A, Maruvka YE, Leshchiner I, Lander ES, Golub TR, Zick A, Orthwein A, Lawrence MS, Batra RN, Caldas C, Haber DA, Laird PW, Shen H, Ellisen LW, D'Andrea AD, Chanock SJ, Foulkes WD, Getz G. Polak P, et al. Among authors: leshchiner i. Nat Genet. 2017 Oct;49(10):1476-1486. doi: 10.1038/ng.3934. Epub 2017 Aug 21. Nat Genet. 2017. PMID: 28825726 Free PMC article.
The evolutionary landscape of chronic lymphocytic leukemia treated with ibrutinib targeted therapy.
Landau DA, Sun C, Rosebrock D, Herman SEM, Fein J, Sivina M, Underbayev C, Liu D, Hoellenriegel J, Ravichandran S, Farooqui MZH, Zhang W, Cibulskis C, Zviran A, Neuberg DS, Livitz D, Bozic I, Leshchiner I, Getz G, Burger JA, Wiestner A, Wu CJ. Landau DA, et al. Among authors: leshchiner i. Nat Commun. 2017 Dec 19;8(1):2185. doi: 10.1038/s41467-017-02329-y. Nat Commun. 2017. PMID: 29259203 Free PMC article. Clinical Trial.
114 results