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Items: 15

1.

De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus.

Furey CG, Choi J, Jin SC, Zeng X, Timberlake AT, Nelson-Williams C, Mansuri MS, Lu Q, Duran D, Panchagnula S, Allocco A, Karimy JK, Khanna A, Gaillard JR, DeSpenza T, Antwi P, Loring E, Butler WE, Smith ER, Warf BC, Strahle JM, Limbrick DD, Storm PB, Heuer G, Jackson EM, Iskandar BJ, Johnston JM, Tikhonova I, Castaldi C, López-Giráldez F, Bjornson RD, Knight JR, Bilguvar K, Mane S, Alper SL, Haider S, Guclu B, Bayri Y, Sahin Y, Apuzzo MLJ, Duncan CC, DiLuna ML, Günel M, Lifton RP, Kahle KT.

Neuron. 2018 Jul 25;99(2):302-314.e4. doi: 10.1016/j.neuron.2018.06.019. Epub 2018 Jul 5.

2.

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.

Jin SC, Homsy J, Zaidi S, Lu Q, Morton S, DePalma SR, Zeng X, Qi H, Chang W, Sierant MC, Hung WC, Haider S, Zhang J, Knight J, Bjornson RD, Castaldi C, Tikhonoa IR, Bilguvar K, Mane SM, Sanders SJ, Mital S, Russell MW, Gaynor JW, Deanfield J, Giardini A, Porter GA Jr, Srivastava D, Lo CW, Shen Y, Watkins WS, Yandell M, Yost HJ, Tristani-Firouzi M, Newburger JW, Roberts AE, Kim R, Zhao H, Kaltman JR, Goldmuntz E, Chung WK, Seidman JG, Gelb BD, Seidman CE, Lifton RP, Brueckner M.

Nat Genet. 2017 Nov;49(11):1593-1601. doi: 10.1038/ng.3970. Epub 2017 Oct 9.

3.

Korean Variant Archive (KOVA): a reference database of genetic variations in the Korean population.

Lee S, Seo J, Park J, Nam JY, Choi A, Ignatius JS, Bjornson RD, Chae JH, Jang IJ, Lee S, Park WY, Baek D, Choi M.

Sci Rep. 2017 Jun 27;7(1):4287. doi: 10.1038/s41598-017-04642-4.

4.

Genomic landscape of cutaneous T cell lymphoma.

Choi J, Goh G, Walradt T, Hong BS, Bunick CG, Chen K, Bjornson RD, Maman Y, Wang T, Tordoff J, Carlson K, Overton JD, Liu KJ, Lewis JM, Devine L, Barbarotta L, Foss FM, Subtil A, Vonderheid EC, Edelson RL, Schatz DG, Boggon TJ, Girardi M, Lifton RP.

Nat Genet. 2015 Sep;47(9):1011-9. doi: 10.1038/ng.3356. Epub 2015 Jul 20.

5.

YPED: an integrated bioinformatics suite and database for mass spectrometry-based proteomics research.

Colangelo CM, Shifman M, Cheung KH, Stone KL, Carriero NJ, Gulcicek EE, Lam TT, Wu T, Bjornson RD, Bruce C, Nairn AC, Rinehart J, Miller PL, Williams KR.

Genomics Proteomics Bioinformatics. 2015 Feb;13(1):25-35. doi: 10.1016/j.gpb.2014.11.002. Epub 2015 Feb 21.

6.

A spatial simulation approach to account for protein structure when identifying non-random somatic mutations.

Ryslik GA, Cheng Y, Cheung KH, Bjornson RD, Zelterman D, Modis Y, Zhao H.

BMC Bioinformatics. 2014 Jul 3;15:231. doi: 10.1186/1471-2105-15-231.

7.

Low-copy piggyBac transposon mutagenesis in mice identifies genes driving melanoma.

Ni TK, Landrette SF, Bjornson RD, Bosenberg MW, Xu T.

Proc Natl Acad Sci U S A. 2013 Sep 17;110(38):E3640-9. doi: 10.1073/pnas.1314435110. Epub 2013 Sep 3.

8.

De novo mutations in histone-modifying genes in congenital heart disease.

Zaidi S, Choi M, Wakimoto H, Ma L, Jiang J, Overton JD, Romano-Adesman A, Bjornson RD, Breitbart RE, Brown KK, Carriero NJ, Cheung YH, Deanfield J, DePalma S, Fakhro KA, Glessner J, Hakonarson H, Italia MJ, Kaltman JR, Kaski J, Kim R, Kline JK, Lee T, Leipzig J, Lopez A, Mane SM, Mitchell LE, Newburger JW, Parfenov M, Pe'er I, Porter G, Roberts AE, Sachidanandam R, Sanders SJ, Seiden HS, State MW, Subramanian S, Tikhonova IR, Wang W, Warburton D, White PS, Williams IA, Zhao H, Seidman JG, Brueckner M, Chung WK, Gelb BD, Goldmuntz E, Seidman CE, Lifton RP.

Nature. 2013 Jun 13;498(7453):220-3. doi: 10.1038/nature12141. Epub 2013 May 12.

9.

De novo mutations revealed by whole-exome sequencing are strongly associated with autism.

Sanders SJ, Murtha MT, Gupta AR, Murdoch JD, Raubeson MJ, Willsey AJ, Ercan-Sencicek AG, DiLullo NM, Parikshak NN, Stein JL, Walker MF, Ober GT, Teran NA, Song Y, El-Fishawy P, Murtha RC, Choi M, Overton JD, Bjornson RD, Carriero NJ, Meyer KA, Bilguvar K, Mane SM, Sestan N, Lifton RP, Günel M, Roeder K, Geschwind DH, Devlin B, State MW.

Nature. 2012 Apr 4;485(7397):237-41. doi: 10.1038/nature10945.

10.

Insight into the transmission biology and species-specific functional capabilities of tsetse (Diptera: glossinidae) obligate symbiont Wigglesworthia.

Rio RV, Symula RE, Wang J, Lohs C, Wu YN, Snyder AK, Bjornson RD, Oshima K, Biehl BS, Perna NT, Hattori M, Aksoy S.

mBio. 2012 Feb 14;3(1). pii: e00240-11. doi: 10.1128/mBio.00240-11. Print 2012.

11.

Influence of host phylogeographic patterns and incomplete lineage sorting on within-species genetic variability in Wigglesworthia species, obligate symbionts of tsetse flies.

Symula RE, Marpuri I, Bjornson RD, Okedi L, Beadell J, Alam U, Aksoy S, Caccone A.

Appl Environ Microbiol. 2011 Dec;77(23):8400-8. doi: 10.1128/AEM.05688-11. Epub 2011 Sep 23.

12.

Analysis of membrane proteins in metagenomics: networks of correlated environmental features and protein families.

Patel PV, Gianoulis TA, Bjornson RD, Yip KY, Engelman DM, Gerstein MB.

Genome Res. 2010 Jul;20(7):960-71. doi: 10.1101/gr.102814.109. Epub 2010 Apr 29.

13.

Integrating sequencing technologies in personal genomics: optimal low cost reconstruction of structural variants.

Du J, Bjornson RD, Zhang ZD, Kong Y, Snyder M, Gerstein MB.

PLoS Comput Biol. 2009 Jul;5(7):e1000432. doi: 10.1371/journal.pcbi.1000432. Epub 2009 Jul 10.

14.

Keck Foundation Biotechnology Resource Laboratory, Yale University.

Stone KL, Bjornson RD, Blasko GG, Bruce C, Cofrancesco R, Carriero NJ, Colangelo CM, Crawford JK, Crawford JM, daSilva NC, Deluca JD, Elliott JI, Elliott MM, Flory PJ, Folta-Stogniew EJ, Gulcicek E, Kong Y, Lam TT, Lee JY, Lin A, LoPresti MB, Mane SM, McMurray WJ, Tikhonova IR, Westman S, Williams NA, Wu TL, Hongyu Z, Williams KR.

Yale J Biol Med. 2007 Dec;80(4):195-211. Review. No abstract available.

15.

X!!Tandem, an improved method for running X!tandem in parallel on collections of commodity computers.

Bjornson RD, Carriero NJ, Colangelo C, Shifman M, Cheung KH, Miller PL, Williams K.

J Proteome Res. 2008 Jan;7(1):293-9. Epub 2007 Sep 29.

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