Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 20 of 34

1.

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.

Rivas MA, Avila BE, Koskela J, Huang H, Stevens C, Pirinen M, Haritunians T, Neale BM, Kurki M, Ganna A, Graham D, Glaser B, Peter I, Atzmon G, Barzilai N, Levine AP, Schiff E, Pontikos N, Weisburd B, Lek M, Karczewski KJ, Bloom J, Minikel EV, Petersen BS, Beaugerie L, Seksik P, Cosnes J, Schreiber S, Bokemeyer B, Bethge J; International IBD Genetics Consortium; NIDDK IBD Genetics Consortium; T2D-GENES Consortium, Heap G, Ahmad T, Plagnol V, Segal AW, Targan S, Turner D, Saavalainen P, Farkkila M, Kontula K, Palotie A, Brant SR, Duerr RH, Silverberg MS, Rioux JD, Weersma RK, Franke A, Jostins L, Anderson CA, Barrett JC, MacArthur DG, Jalas C, Sokol H, Xavier RJ, Pulver A, Cho JH, McGovern DPB, Daly MJ.

PLoS Genet. 2018 May 24;14(5):e1007329. doi: 10.1371/journal.pgen.1007329. eCollection 2018 May.

2.

IKZF1plus Defines a New Minimal Residual Disease-Dependent Very-Poor Prognostic Profile in Pediatric B-Cell Precursor Acute Lymphoblastic Leukemia.

Stanulla M, Dagdan E, Zaliova M, Möricke A, Palmi C, Cazzaniga G, Eckert C, Te Kronnie G, Bourquin JP, Bornhauser B, Koehler R, Bartram CR, Ludwig WD, Bleckmann K, Groeneveld-Krentz S, Schewe D, Junk SV, Hinze L, Klein N, Kratz CP, Biondi A, Borkhardt A, Kulozik A, Muckenthaler MU, Basso G, Valsecchi MG, Izraeli S, Petersen BS, Franke A, Dörge P, Steinemann D, Haas OA, Panzer-Grümayer R, Cavé H, Houlston RS, Cario G, Schrappe M, Zimmermann M; TRANSCALL Consortium; International BFM Study Group.

J Clin Oncol. 2018 Apr 20;36(12):1240-1249. doi: 10.1200/JCO.2017.74.3617. Epub 2018 Mar 2.

PMID:
29498923
3.

Exome Sequencing Identifies a Novel MAP3K14 Mutation in Recessive Atypical Combined Immunodeficiency.

Schlechter N, Glanzmann B, Hoal EG, Schoeman M, Petersen BS, Franke A, Lau YL, Urban M, van Helden PD, Esser MM, Möller M, Kinnear C.

Front Immunol. 2017 Nov 27;8:1624. doi: 10.3389/fimmu.2017.01624. eCollection 2017.

4.

c.207C>G mutation in sepiapterin reductase causes autosomal dominant dopa-responsive dystonia.

Shalash AS, Rösler TW, Müller SH, Salama M, Deuschl G, Müller U, Opladen T, Petersen BS, Franke A, Hopfner F, Kuhlenbäumer G, Höglinger GU.

Neurol Genet. 2017 Nov 1;3(6):e197. doi: 10.1212/NXG.0000000000000197. eCollection 2017 Dec.

5.

Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea.

Petersen BS, August D, Abt R, Alddafari M, Atarod L, Baris S, Bhavsar H, Brinkert F, Buchta M, Bulashevska A, Chee R, Cordeiro AI, Dara N, Dückers G, Elmarsafy A, Frede N, Galal N, Gerner P, Glocker EO, Goldacker S, Hammermann J, Hasselblatt P, Havlicekova Z, Hübscher K, Jesenak M, Karaca NE, Karakoc-Aydiner E, Kharaghani MM, Kilic SS, Kiykim A, Klein C, Klemann C, Kobbe R, Kotlarz D, Laass MW, Leahy TR, Mesdaghi M, Mitton S, Neves JF, Öztürk B, Pereira LF, Rohr J, Restrepo JLR, Ruzaike G, Saleh N, Seneviratne S, Senol E, Speckmann C, Tegtmeyer D, Thankam P, van der Werff Ten Bosch J, von Bernuth H, Zeissig S, Zeissig Y, Franke A, Grimbacher B.

Inflamm Bowel Dis. 2017 Dec;23(12):2109-2120. doi: 10.1097/MIB.0000000000001235.

PMID:
28930861
6.

Working toward precision medicine: Predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges.

Daneshjou R, Wang Y, Bromberg Y, Bovo S, Martelli PL, Babbi G, Lena PD, Casadio R, Edwards M, Gifford D, Jones DT, Sundaram L, Bhat RR, Li X, Pal LR, Kundu K, Yin Y, Moult J, Jiang Y, Pejaver V, Pagel KA, Li B, Mooney SD, Radivojac P, Shah S, Carraro M, Gasparini A, Leonardi E, Giollo M, Ferrari C, Tosatto SCE, Bachar E, Azaria JR, Ofran Y, Unger R, Niroula A, Vihinen M, Chang B, Wang MH, Franke A, Petersen BS, Pirooznia M, Zandi P, McCombie R, Potash JB, Altman RB, Klein TE, Hoskins RA, Repo S, Brenner SE, Morgan AA.

Hum Mutat. 2017 Sep;38(9):1182-1192. doi: 10.1002/humu.23280. Epub 2017 Jul 7.

PMID:
28634997
7.

Iterative Sequencing and Variant Screening (ISVS) as a novel pathogenic mutations search strategy - application for TMPRSS3 mutations screen.

Lechowicz U, Gambin T, Pollak A, Podgorska A, Stawinski P, Franke A, Petersen BS, Firczuk M, Oldak M, Skarzynski H, Ploski R.

Sci Rep. 2017 May 31;7(1):2543. doi: 10.1038/s41598-017-02315-w.

8.

Exome Analysis of Rare and Common Variants within the NOD Signaling Pathway.

Andreoletti G, Shakhnovich V, Christenson K, Coelho T, Haggarty R, Afzal NA, Batra A, Petersen BS, Mort M, Beattie RM, Ennis S.

Sci Rep. 2017 Apr 19;7:46454. doi: 10.1038/srep46454.

9.

Opportunities and challenges of whole-genome and -exome sequencing.

Petersen BS, Fredrich B, Hoeppner MP, Ellinghaus D, Franke A.

BMC Genet. 2017 Feb 14;18(1):14. doi: 10.1186/s12863-017-0479-5. Review.

10.

The TP53 Pro72Arg SNP in de novo acute myeloid leukaemia - results of two cohort studies involving 215 patients and 3759 controls.

Schulz E, Lind K, Renner W, Petersen BS, Quehenberger F, Dill C, Hofer S, Lal R, Hoefler G, Schlenke P, Ehninger G, Schetelig J, Middeke JM, Stölzel F, Sill H.

Br J Haematol. 2018 Apr;181(1):148-151. doi: 10.1111/bjh.14527. Epub 2017 Jan 20. No abstract available.

PMID:
28106906
11.

Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype-phenotype correlation.

Baumann M, Steichen-Gersdorf E, Krabichler B, Petersen BS, Weber U, Schmidt WM, Zschocke J, Müller T, Bittner RE, Janecke AR.

Eur J Hum Genet. 2017 Feb;25(2):262-266. doi: 10.1038/ejhg.2016.144. Epub 2016 Oct 26.

12.

Genetic Factors of the Disease Course After Sepsis: Rare Deleterious Variants Are Predictive.

Taudien S, Lausser L, Giamarellos-Bourboulis EJ, Sponholz C, Schöneweck F, Felder M, Schirra LR, Schmid F, Gogos C, Groth S, Petersen BS, Franke A, Lieb W, Huse K, Zipfel PF, Kurzai O, Moepps B, Gierschik P, Bauer M, Scherag A, Kestler HA, Platzer M.

EBioMedicine. 2016 Oct;12:227-238. doi: 10.1016/j.ebiom.2016.08.037. Epub 2016 Sep 15.

13.

Rare phenotypes in the understanding of autoimmunity.

Zeissig Y, Petersen BS, Franke A, Blumberg RS, Zeissig S.

Immunol Cell Biol. 2016 Nov;94(10):943-948. doi: 10.1038/icb.2016.76. Epub 2016 Oct 11. Review.

14.

Targeted Resequencing and Functional Testing Identifies Low-Frequency Missense Variants in the Gene Encoding GARP as Significant Contributors to Atopic Dermatitis Risk.

Manz J, Rodríguez E, ElSharawy A, Oesau EM, Petersen BS, Baurecht H, Mayr G, Weber S, Harder J, Reischl E, Schwarz A, Novak N, Franke A, Weidinger S.

J Invest Dermatol. 2016 Dec;136(12):2380-2386. doi: 10.1016/j.jid.2016.07.009. Epub 2016 Jul 21.

15.

Corrigendum: CEACAM1 regulates TIM-3-mediated tolerance and exhaustion.

Huang YH, Zhu C, Kondo Y, Anderson AC, Gandhi A, Russell A, Dougan SK, Petersen BS, Melum E, Pertel T, Clayton KL, Raab M, Chen Q, Beauchemin N, Yazaki PJ, Pyzik M, Ostrowski MA, Glickman JN, Rudd CE, Ploegh HL, Franke A, Petsko GA, Kuchroo VK, Blumberg RS.

Nature. 2016 Aug 18;536(7616):359. doi: 10.1038/nature17421. Epub 2016 Mar 16. No abstract available.

16.

A candidate gene approach of the calcineurin pathway to identify variants associated with clinical outcomes in renal transplantation.

Pouché L, Koitka M, Stojanova J, Woillard JB, Monchaud C, Villeneuve C, Essig M, Abraham J, Le Meur Y, Rerolle JP, Kamar N, Rostaing L, Merville P, Gandia P, Bouchet S, Petersen BS, Marquet P, Picard N.

Pharmacogenomics. 2016 Mar;17(4):375-91. doi: 10.2217/pgs.15.181. Epub 2016 Feb 19.

PMID:
26894651
17.

Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea.

Janecke AR, Heinz-Erian P, Yin J, Petersen BS, Franke A, Lechner S, Fuchs I, Melancon S, Uhlig HH, Travis S, Marinier E, Perisic V, Ristic N, Gerner P, Booth IW, Wedenoja S, Baumgartner N, Vodopiutz J, Frechette-Duval MC, De Lafollie J, Persad R, Warner N, Tse CM, Sud K, Zachos NC, Sarker R, Zhu X, Muise AM, Zimmer KP, Witt H, Zoller H, Donowitz M, Müller T.

Hum Mol Genet. 2015 Dec 1;24(23):6614-23. doi: 10.1093/hmg/ddv367. Epub 2015 Sep 10.

18.

Impaired hepcidin expression in alpha-1-antitrypsin deficiency associated with iron overload and progressive liver disease.

Schaefer B, Haschka D, Finkenstedt A, Petersen BS, Theurl I, Henninger B, Janecke AR, Wang CY, Lin HY, Veits L, Vogel W, Weiss G, Franke A, Zoller H.

Hum Mol Genet. 2015 Nov 1;24(21):6254-63. doi: 10.1093/hmg/ddv348. Epub 2015 Aug 26.

19.

Genomics and drug profiling of fatal TCF3-HLF-positive acute lymphoblastic leukemia identifies recurrent mutation patterns and therapeutic options.

Fischer U, Forster M, Rinaldi A, Risch T, Sungalee S, Warnatz HJ, Bornhauser B, Gombert M, Kratsch C, Stütz AM, Sultan M, Tchinda J, Worth CL, Amstislavskiy V, Badarinarayan N, Baruchel A, Bartram T, Basso G, Canpolat C, Cario G, Cavé H, Dakaj D, Delorenzi M, Dobay MP, Eckert C, Ellinghaus E, Eugster S, Frismantas V, Ginzel S, Haas OA, Heidenreich O, Hemmrich-Stanisak G, Hezaveh K, Höll JI, Hornhardt S, Husemann P, Kachroo P, Kratz CP, Te Kronnie G, Marovca B, Niggli F, McHardy AC, Moorman AV, Panzer-Grümayer R, Petersen BS, Raeder B, Ralser M, Rosenstiel P, Schäfer D, Schrappe M, Schreiber S, Schütte M, Stade B, Thiele R, von der Weid N, Vora A, Zaliova M, Zhang L, Zichner T, Zimmermann M, Lehrach H, Borkhardt A, Bourquin JP, Franke A, Korbel JO, Stanulla M, Yaspo ML.

Nat Genet. 2015 Sep;47(9):1020-1029. doi: 10.1038/ng.3362. Epub 2015 Jul 27.

20.

Exome sequencing analysis reveals variants in primary immunodeficiency genes in patients with very early onset inflammatory bowel disease.

Kelsen JR, Dawany N, Moran CJ, Petersen BS, Sarmady M, Sasson A, Pauly-Hubbard H, Martinez A, Maurer K, Soong J, Rappaport E, Franke A, Keller A, Winter HS, Mamula P, Piccoli D, Artis D, Sonnenberg GF, Daly M, Sullivan KE, Baldassano RN, Devoto M.

Gastroenterology. 2015 Nov;149(6):1415-24. doi: 10.1053/j.gastro.2015.07.006. Epub 2015 Jul 17.

Supplemental Content

Loading ...
Support Center