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Items: 1 to 50 of 111

1.

Special issue on 'Genetic epidemiology of complex diseases: impact of population history and modelling assumptions'.

Caliebe A, Nothnagel M.

Hum Genet. 2019 Oct 29. doi: 10.1007/s00439-019-02074-w. [Epub ahead of print] No abstract available.

PMID:
31664516
2.

A Rare Variant Nonparametric Linkage Method for Nuclear and Extended Pedigrees with Application to Late-Onset Alzheimer Disease via WGS Data.

Zhao L, He Z, Zhang D, Wang GT, Renton AE, Vardarajan BN, Nothnagel M, Goate AM, Mayeux R, Leal SM.

Am J Hum Genet. 2019 Oct 3;105(4):822-835. doi: 10.1016/j.ajhg.2019.09.006.

PMID:
31585107
3.

Distinct genetic variation and heterogeneity of the Iranian population.

Mehrjoo Z, Fattahi Z, Beheshtian M, Mohseni M, Poustchi H, Ardalani F, Jalalvand K, Arzhangi S, Mohammadi Z, Khoshbakht S, Najafi F, Nikuei P, Haddadi M, Zohrehvand E, Oladnabi M, Mohammadzadeh A, Jafari MH, Akhtarkhavari T, Gooshki ES, Haghdoost A, Najafipour R, Niestroj LM, Helwing B, Gossmann Y, Toliat MR, Malekzadeh R, Nürnberg P, Kahrizi K, Najmabadi H, Nothnagel M.

PLoS Genet. 2019 Sep 24;15(9):e1008385. doi: 10.1371/journal.pgen.1008385. eCollection 2019 Sep.

4.

Missense variants in NOX1 and p22phox in a case of very-early-onset inflammatory bowel disease are functionally linked to NOD2.

Lipinski S, Petersen BS, Barann M, Piecyk A, Tran F, Mayr G, Jentzsch M, Aden K, Stengel ST, Klostermeier UC, Sheth V, Ellinghaus D, Rausch T, Korbel JO, Nothnagel M, Krawczak M, Gilissen C, Veltman JA, Forster M, Forster P, Lee CC, Fritscher-Ravens A, Schreiber S, Franke A, Rosenstiel P.

Cold Spring Harb Mol Case Stud. 2019 Feb 1;5(1). pii: a002428. doi: 10.1101/mcs.a002428. Print 2019 Feb.

5.

Unsupported claim of significant discrimination between monozygotic twins from multiple pairs based on three age-related DNA methylation markers.

Vidaki A, Kayser M, Nothnagel M.

Forensic Sci Int Genet. 2019 Mar;39:e1-e2. doi: 10.1016/j.fsigen.2019.01.003. Epub 2019 Jan 9. No abstract available.

PMID:
30655205
6.

True colors: A literature review on the spatial distribution of eye and hair pigmentation.

Katsara MA, Nothnagel M.

Forensic Sci Int Genet. 2019 Mar;39:109-118. doi: 10.1016/j.fsigen.2019.01.001. Epub 2019 Jan 2. Review.

7.

Guideline-based and bioinformatic reassessment of lesion-associated gene and variant pathogenicity in focal human epilepsies.

Niestroj LM, Du J, Nothnagel M, May P, Palotie A, Daly MJ, Nürnberg P, Blümcke I, Lal D.

Epilepsia. 2018 Nov;59(11):2145-2152. doi: 10.1111/epi.14579. Epub 2018 Oct 20.

8.

Evaluation of potential effects of Plastin 3 overexpression and low-dose SMN-antisense oligonucleotides on putative biomarkers in spinal muscular atrophy mice.

Strathmann EA, Peters M, Hosseinibarkooie S, Rigo FW, Bennett CF, Zaworski PG, Chen KS, Nothnagel M, Wirth B.

PLoS One. 2018 Sep 6;13(9):e0203398. doi: 10.1371/journal.pone.0203398. eCollection 2018.

9.

Heterozygous carriage of the alpha1-antitrypsin Pi*Z variant increases the risk to develop liver cirrhosis.

Strnad P, Buch S, Hamesch K, Fischer J, Rosendahl J, Schmelz R, Brueckner S, Brosch M, Heimes CV, Woditsch V, Scholten D, Nischalke HD, Janciauskiene S, Mandorfer M, Trauner M, Way MJ, McQuillin A, Reichert MC, Krawczyk M, Casper M, Lammert F, Braun F, von Schönfels W, Hinz S, Burmeister G, Hellerbrand C, Teufel A, Feldman A, Schattenberg JM, Bantel H, Pathil A, Demir M, Kluwe J, Boettler T, Ridinger M, Wodarz N, Soyka M, Rietschel M, Kiefer F, Weber T, Marhenke S, Vogel A, Hinrichsen H, Canbay A, Schlattjan M, Sosnowsky K, Sarrazin C, von Felden J, Geier A, Deltenre P, Sipos B, Schafmayer C, Nothnagel M, Aigner E, Datz C, Stickel F, Morgan MY, Hampe J, Berg T, Trautwein C.

Gut. 2019 Jun;68(6):1099-1107. doi: 10.1136/gutjnl-2018-316228. Epub 2018 Aug 1.

PMID:
30068662
10.

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study.

May P, Girard S, Harrer M, Bobbili DR, Schubert J, Wolking S, Becker F, Lachance-Touchette P, Meloche C, Gravel M, Niturad CE, Knaus J, De Kovel C, Toliat M, Polvi A, Iacomino M, Guerrero-López R, Baulac S, Marini C, Thiele H, Altmüller J, Jabbari K, Ruppert AK, Jurkowski W, Lal D, Rusconi R, Cestèle S, Terragni B, Coombs ID, Reid CA, Striano P, Caglayan H, Siren A, Everett K, Møller RS, Hjalgrim H, Muhle H, Helbig I, Kunz WS, Weber YG, Weckhuysen S, Jonghe P, Sisodiya SM, Nabbout R, Franceschetti S, Coppola A, Vari MS, Kasteleijn-Nolst Trenité D, Baykan B, Ozbek U, Bebek N, Klein KM, Rosenow F, Nguyen DK, Dubeau F, Carmant L, Lortie A, Desbiens R, Clément JF, Cieuta-Walti C, Sills GJ, Auce P, Francis B, Johnson MR, Marson AG, Berghuis B, Sander JW, Avbersek A, McCormack M, Cavalleri GL, Delanty N, Depondt C, Krenn M, Zimprich F, Peter S, Nikanorova M, Kraaij R, van Rooij J, Balling R, Ikram MA, Uitterlinden AG, Avanzini G, Schorge S, Petrou S, Mantegazza M, Sander T, LeGuern E, Serratosa JM, Koeleman BPC, Palotie A, Lehesjoki AE, Nothnagel M, Nürnberg P, Maljevic S, Zara F, Cossette P, Krause R, Lerche H; Epicure Consortium; EuroEPINOMICS CoGIE Consortium; EpiPGX Consortium.

Lancet Neurol. 2018 Aug;17(8):699-708. doi: 10.1016/S1474-4422(18)30215-1. Epub 2018 Jul 17.

11.

Ancient DNA study reveals HLA susceptibility locus for leprosy in medieval Europeans.

Krause-Kyora B, Nutsua M, Boehme L, Pierini F, Pedersen DD, Kornell SC, Drichel D, Bonazzi M, Möbus L, Tarp P, Susat J, Bosse E, Willburger B, Schmidt AH, Sauter J, Franke A, Wittig M, Caliebe A, Nothnagel M, Schreiber S, Boldsen JL, Lenz TL, Nebel A.

Nat Commun. 2018 May 1;9(1):1569. doi: 10.1038/s41467-018-03857-x.

12.

Performance of in silico prediction tools for the classification of rare BRCA1/2 missense variants in clinical diagnostics.

Ernst C, Hahnen E, Engel C, Nothnagel M, Weber J, Schmutzler RK, Hauke J.

BMC Med Genomics. 2018 Mar 27;11(1):35. doi: 10.1186/s12920-018-0353-y.

13.

Pathway-induced allelic spectra of diseases in the presence of strong genetic effects.

Kanoungi G, Nothnagel M.

Hum Genet. 2018 Mar;137(3):215-230. doi: 10.1007/s00439-018-1872-5. Epub 2018 Feb 8.

PMID:
29423653
14.

Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.

Bobbili DR, Lal D, May P, Reinthaler EM, Jabbari K, Thiele H, Nothnagel M, Jurkowski W, Feucht M, Nürnberg P, Lerche H, Zimprich F, Krause R, Neubauer BA, Reinthaler EM, Zimprich F, Feucht M, Steinböck H, Neophytou B, Geldner J, Gruber-Sedlmayr U, Haberlandt E, Ronen GM, Altmüller J, Lal D, Nürnberg P, Sander T, Thiele H, Krause R, May P, Balling R, Lerche H, Neubauer BA; EUROEPINOMICS COGIE Consortium.

Eur J Hum Genet. 2018 Feb;26(2):258-264. doi: 10.1038/s41431-017-0034-x. Epub 2018 Jan 22.

15.

Publisher Correction: Identification and characterization of two functional variants in the human longevity gene FOXO3.

Flachsbart F, Dose J, Gentschew L, Geismann C, Caliebe A, Knecht C, Nygaard M, Badarinarayan N, ElSharawy A, May S, Luzius A, Torres GG, Jentzsch M, Forster M, Häsler R, Pallauf K, Lieb W, Derbois C, Galan P, Drichel D, Arlt A, Till A, Krause-Kyora B, Rimbach G, Blanché H, Deleuze JF, Christiansen L, Christensen K, Nothnagel M, Rosenstiel P, Schreiber S, Franke A, Sebens S, Nebel A.

Nat Commun. 2018 Jan 17;9(1):320. doi: 10.1038/s41467-018-02842-8.

16.

Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling.

Asadollahi R, Strauss JE, Zenker M, Beuing O, Edvardson S, Elpeleg O, Strom TM, Joset P, Niedrist D, Otte C, Oneda B, Boonsawat P, Azzarello-Burri S, Bartholdi D, Papik M, Zweier M, Haas C, Ekici AB, Baumer A, Boltshauser E, Steindl K, Nothnagel M, Schinzel A, Stoeckli ET, Rauch A.

Eur J Hum Genet. 2018 Feb;26(2):197-209. doi: 10.1038/s41431-017-0019-9. Epub 2018 Jan 10.

17.

Identification and characterization of two functional variants in the human longevity gene FOXO3.

Flachsbart F, Dose J, Gentschew L, Geismann C, Caliebe A, Knecht C, Nygaard M, Badarinarayan N, ElSharawy A, May S, Luzius A, Torres GG, Jentzsch M, Forster M, Häsler R, Pallauf K, Lieb W, Derbois C, Galan P, Drichel D, Arlt A, Till A, Krause-Kyora B, Rimbach G, Blanché H, Deleuze JF, Christiansen L, Christensen K, Nothnagel M, Rosenstiel P, Schreiber S, Franke A, Sebens S, Nebel A.

Nat Commun. 2017 Dec 12;8(1):2063. doi: 10.1038/s41467-017-02183-y. Erratum in: Nat Commun. 2018 Jan 17;9(1):320.

18.

A Genome-wide Association Study of Dupuytren Disease Reveals 17 Additional Variants Implicated in Fibrosis.

Ng M, Thakkar D, Southam L, Werker P, Ophoff R, Becker K, Nothnagel M, Franke A, Nürnberg P, Espirito-Santo AI, Izadi D, Hennies HC, Nanchahal J, Zeggini E, Furniss D.

Am J Hum Genet. 2017 Sep 7;101(3):417-427. doi: 10.1016/j.ajhg.2017.08.006.

19.

Serum metabolomic profiling highlights pathways associated with liver fat content in a general population sample.

Koch M, Freitag-Wolf S, Schlesinger S, Borggrefe J, Hov JR, Jensen MK, Pick J, Markus MRP, Höpfner T, Jacobs G, Siegert S, Artati A, Kastenmüller G, Römisch-Margl W, Adamski J, Illig T, Nothnagel M, Karlsen TH, Schreiber S, Franke A, Krawczak M, Nöthlings U, Lieb W.

Eur J Clin Nutr. 2017 Aug;71(8):995-1001. doi: 10.1038/ejcn.2017.43. Epub 2017 Apr 5.

PMID:
28378853
20.

Meta-analysis identifies novel risk loci and yields systematic insights into the biology of male-pattern baldness.

Heilmann-Heimbach S, Herold C, Hochfeld LM, Hillmer AM, Nyholt DR, Hecker J, Javed A, Chew EG, Pechlivanis S, Drichel D, Heng XT, Del Rosario RC, Fier HL, Paus R, Rueedi R, Galesloot TE, Moebus S, Anhalt T, Prabhakar S, Li R, Kanoni S, Papanikolaou G, Kutalik Z, Deloukas P, Philpott MP, Waeber G, Spector TD, Vollenweider P, Kiemeney LA, Dedoussis G, Richards JB, Nothnagel M, Martin NG, Becker T, Hinds DA, Nöthen MM.

Nat Commun. 2017 Mar 8;8:14694. doi: 10.1038/ncomms14694.

21.

Securing the use of existing sample collections for future human genetic research.

Kanoungi G, Nürnberg P, Nothnagel M.

Eur J Hum Genet. 2017 May;25(5):522-529. doi: 10.1038/ejhg.2017.1. Epub 2017 Feb 1.

22.

Revisiting the male genetic landscape of China: a multi-center study of almost 38,000 Y-STR haplotypes.

Nothnagel M, Fan G, Guo F, He Y, Hou Y, Hu S, Huang J, Jiang X, Kim W, Kim K, Li C, Li H, Li L, Li S, Li Z, Liang W, Liu C, Lu D, Luo H, Nie S, Shi M, Sun H, Tang J, Wang L, Wang CC, Wang D, Wen SQ, Wu H, Wu W, Xing J, Yan J, Yan S, Yao H, Ye Y, Yun L, Zeng Z, Zha L, Zhang S, Zheng X, Willuweit S, Roewer L.

Hum Genet. 2017 May;136(5):485-497. doi: 10.1007/s00439-017-1759-x. Epub 2017 Jan 30.

PMID:
28138773
23.

The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?

Seemanova E, Varon R, Vejvalka J, Jarolim P, Seeman P, Chrzanowska KH, Digweed M, Resnick I, Kremensky I, Saar K, Hoffmann K, Dutrannoy V, Karbasiyan M, Ghani M, Barić I, Tekin M, Kovacs P, Krawczak M, Reis A, Sperling K, Nothnagel M.

PLoS One. 2016 Dec 9;11(12):e0167984. doi: 10.1371/journal.pone.0167984. eCollection 2016.

24.

Genetic mapping of 15 human X chromosomal forensic short tandem repeat (STR) loci by means of multi-core parallelization.

Diegoli TM, Rohde H, Borowski S, Krawczak M, Coble MD, Nothnagel M.

Forensic Sci Int Genet. 2016 Nov;25:39-44. doi: 10.1016/j.fsigen.2016.07.004. Epub 2016 Jul 25.

PMID:
27497644
25.

Meta-Analysis of Genome-Wide Association Studies and Network Analysis-Based Integration with Gene Expression Data Identify New Suggestive Loci and Unravel a Wnt-Centric Network Associated with Dupuytren's Disease.

Becker K, Siegert S, Toliat MR, Du J, Casper R, Dolmans GH, Werker PM, Tinschert S, Franke A, Gieger C, Strauch K, Nothnagel M, Nürnberg P, Hennies HC; German Dupuytren Study Group.

PLoS One. 2016 Jul 28;11(7):e0158101. doi: 10.1371/journal.pone.0158101. eCollection 2016.

26.

Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing.

Lal D, Neubauer BA, Toliat MR, Altmüller J, Thiele H, Nürnberg P, Kamrath C, Schänzer A, Sander T, Hahn A, Nothnagel M.

PLoS One. 2016 Jan 20;11(1):e0146040. doi: 10.1371/journal.pone.0146040. eCollection 2016.

27.

Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.

Gardella E, Becker F, Møller RS, Schubert J, Lemke JR, Larsen LH, Eiberg H, Nothnagel M, Thiele H, Altmüller J, Syrbe S, Merkenschlager A, Bast T, Steinhoff B, Nürnberg P, Mang Y, Bakke Møller L, Gellert P, Heron SE, Dibbens LM, Weckhuysen S, Dahl HA, Biskup S, Tommerup N, Hjalgrim H, Lerche H, Beniczky S, Weber YG.

Ann Neurol. 2016 Mar;79(3):428-36. doi: 10.1002/ana.24580. Epub 2016 Feb 13.

PMID:
26677014
28.

A genome-wide association study confirms PNPLA3 and identifies TM6SF2 and MBOAT7 as risk loci for alcohol-related cirrhosis.

Buch S, Stickel F, Trépo E, Way M, Herrmann A, Nischalke HD, Brosch M, Rosendahl J, Berg T, Ridinger M, Rietschel M, McQuillin A, Frank J, Kiefer F, Schreiber S, Lieb W, Soyka M, Semmo N, Aigner E, Datz C, Schmelz R, Brückner S, Zeissig S, Stephan AM, Wodarz N, Devière J, Clumeck N, Sarrazin C, Lammert F, Gustot T, Deltenre P, Völzke H, Lerch MM, Mayerle J, Eyer F, Schafmayer C, Cichon S, Nöthen MM, Nothnagel M, Ellinghaus D, Huse K, Franke A, Zopf S, Hellerbrand C, Moreno C, Franchimont D, Morgan MY, Hampe J.

Nat Genet. 2015 Dec;47(12):1443-8. doi: 10.1038/ng.3417. Epub 2015 Oct 19.

29.

CoNCoS: copy number estimation in cancer with controlled support.

Abdallah AT, Fischer M, Nürnberg P, Nothnagel M, Frommolt P.

J Bioinform Comput Biol. 2015 Oct;13(5):1550027. doi: 10.1142/S0219720015500274. Epub 2015 Sep 4.

PMID:
26449175
30.

Family-Based Benchmarking of Copy Number Variation Detection Software.

Nutsua ME, Fischer A, Nebel A, Hofmann S, Schreiber S, Krawczak M, Nothnagel M.

PLoS One. 2015 Jul 21;10(7):e0133465. doi: 10.1371/journal.pone.0133465. eCollection 2015.

31.

Mutations Causing Complex Disease May under Certain Circumstances Be Protective in an Epidemiological Sense.

Siegert S, Wolf A, Cooper DN, Krawczak M, Nothnagel M.

PLoS One. 2015 Jul 10;10(7):e0132150. doi: 10.1371/journal.pone.0132150. eCollection 2015.

32.

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.

Syrbe S, Hedrich UBS, Riesch E, Djémié T, Müller S, Møller RS, Maher B, Hernandez-Hernandez L, Synofzik M, Caglayan HS, Arslan M, Serratosa JM, Nothnagel M, May P, Krause R, Löffler H, Detert K, Dorn T, Vogt H, Krämer G, Schöls L, Mullis PE, Linnankivi T, Lehesjoki AE, Sterbova K, Craiu DC, Hoffman-Zacharska D, Korff CM, Weber YG, Steinlin M, Gallati S, Bertsche A, Bernhard MK, Merkenschlager A, Kiess W; EuroEPINOMICS RES consortium, Gonzalez M, Züchner S, Palotie A, Suls A, De Jonghe P, Helbig I, Biskup S, Wolff M, Maljevic S, Schüle R, Sisodiya SM, Weckhuysen S, Lerche H, Lemke JR.

Nat Genet. 2015 Apr;47(4):393-399. doi: 10.1038/ng.3239. Epub 2015 Mar 9.

33.

Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes.

Reinthaler EM, Dejanovic B, Lal D, Semtner M, Merkler Y, Reinhold A, Pittrich DA, Hotzy C, Feucht M, Steinböck H, Gruber-Sedlmayr U, Ronen GM, Neophytou B, Geldner J, Haberlandt E, Muhle H, Ikram MA, van Duijn CM, Uitterlinden AG, Hofman A, Altmüller J, Kawalia A, Toliat MR; EuroEPINOMICS Consortium, Nürnberg P, Lerche H, Nothnagel M, Thiele H, Sander T, Meier JC, Schwarz G, Neubauer BA, Zimprich F.

Ann Neurol. 2015 Jun;77(6):972-86. doi: 10.1002/ana.24395. Epub 2015 Mar 28.

PMID:
25726841
34.

Shannon's equivocation for forensic Y-STR marker selection.

Siegert S, Roewer L, Nothnagel M.

Forensic Sci Int Genet. 2015 May;16:216-225. doi: 10.1016/j.fsigen.2015.02.001. Epub 2015 Feb 9.

PMID:
25682312
35.

A global analysis of Y-chromosomal haplotype diversity for 23 STR loci.

Purps J, Siegert S, Willuweit S, Nagy M, Alves C, Salazar R, Angustia SM, Santos LH, Anslinger K, Bayer B, Ayub Q, Wei W, Xue Y, Tyler-Smith C, Bafalluy MB, Martínez-Jarreta B, Egyed B, Balitzki B, Tschumi S, Ballard D, Court DS, Barrantes X, Bäßler G, Wiest T, Berger B, Niederstätter H, Parson W, Davis C, Budowle B, Burri H, Borer U, Koller C, Carvalho EF, Domingues PM, Chamoun WT, Coble MD, Hill CR, Corach D, Caputo M, D'Amato ME, Davison S, Decorte R, Larmuseau MH, Ottoni C, Rickards O, Lu D, Jiang C, Dobosz T, Jonkisz A, Frank WE, Furac I, Gehrig C, Castella V, Grskovic B, Haas C, Wobst J, Hadzic G, Drobnic K, Honda K, Hou Y, Zhou D, Li Y, Hu S, Chen S, Immel UD, Lessig R, Jakovski Z, Ilievska T, Klann AE, García CC, de Knijff P, Kraaijenbrink T, Kondili A, Miniati P, Vouropoulou M, Kovacevic L, Marjanovic D, Lindner I, Mansour I, Al-Azem M, Andari AE, Marino M, Furfuro S, Locarno L, Martín P, Luque GM, Alonso A, Miranda LS, Moreira H, Mizuno N, Iwashima Y, Neto RS, Nogueira TL, Silva R, Nastainczyk-Wulf M, Edelmann J, Kohl M, Nie S, Wang X, Cheng B, Núñez C, Pancorbo MM, Olofsson JK, Morling N, Onofri V, Tagliabracci A, Pamjav H, Volgyi A, Barany G, Pawlowski R, Maciejewska A, Pelotti S, Pepinski W, Abreu-Glowacka M, Phillips C, Cárdenas J, Rey-Gonzalez D, Salas A, Brisighelli F, Capelli C, Toscanini U, Piccinini A, Piglionica M, Baldassarra SL, Ploski R, Konarzewska M, Jastrzebska E, Robino C, Sajantila A, Palo JU, Guevara E, Salvador J, Ungria MC, Rodriguez JJ, Schmidt U, Schlauderer N, Saukko P, Schneider PM, Sirker M, Shin KJ, Oh YN, Skitsa I, Ampati A, Smith TG, Calvit LS, Stenzl V, Capal T, Tillmar A, Nilsson H, Turrina S, De Leo D, Verzeletti A, Cortellini V, Wetton JH, Gwynne GM, Jobling MA, Whittle MR, Sumita DR, Wolańska-Nowak P, Yong RY, Krawczak M, Nothnagel M, Roewer L.

Forensic Sci Int Genet. 2014 Sep;12:12-23. doi: 10.1016/j.fsigen.2014.04.008. Epub 2014 Apr 28.

36.

Evaluation of genome-wide loci of iron metabolism in hereditary hemochromatosis identifies PCSK7 as a host risk factor of liver cirrhosis.

Stickel F, Buch S, Zoller H, Hultcrantz R, Gallati S, Österreicher C, Finkenstedt A, Stadlmayr A, Aigner E, Sahinbegovic E, Sarrazin C, Schafmayer C, Braun F, Erhart W, Nothnagel M, Lerch MM, Mayerle J, Völzke H, Schaller A, Kratzer W, Boehm BO, Sipos B, D'Amato M, Torkvist L, Stal P, Arlt A, Franke A, Becker T, Krawczak M, Zwerina J, Berg T, Hinrichsen H, Krones E, Dejaco C, Strasser M, Datz C, Hampe J.

Hum Mol Genet. 2014 Jul 15;23(14):3883-90. doi: 10.1093/hmg/ddu076. Epub 2014 Feb 20.

37.

Diagnosing fatty liver disease: a comparative evaluation of metabolic markers, phenotypes, genotypes and established biomarkers.

Siegert S, Yu Z, Wang-Sattler R, Illig T, Adamski J, Hampe J, Nikolaus S, Schreiber S, Krawczak M, Nothnagel M, Nöthlings U.

PLoS One. 2013 Oct 9;8(10):e76813. doi: 10.1371/journal.pone.0076813. eCollection 2013.

38.

Metabolic signature of electrosurgical liver dissection.

von Schönfels W, von Kampen O, Patsenker E, Stickel F, Schniewind B, Hinz S, Ahrens M, Balschun K, Egberts JH, Richter K, Landrock A, Sipos B, Will O, Huebbe P, Schreiber S, Nothnagel M, Röcken C, Rimbach G, Becker T, Hampe J, Schafmayer C.

PLoS One. 2013 Sep 13;8(9):e72022. doi: 10.1371/journal.pone.0072022. eCollection 2013.

39.

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes.

Lemke JR, Lal D, Reinthaler EM, Steiner I, Nothnagel M, Alber M, Geider K, Laube B, Schwake M, Finsterwalder K, Franke A, Schilhabel M, Jähn JA, Muhle H, Boor R, Van Paesschen W, Caraballo R, Fejerman N, Weckhuysen S, De Jonghe P, Larsen J, Møller RS, Hjalgrim H, Addis L, Tang S, Hughes E, Pal DK, Veri K, Vaher U, Talvik T, Dimova P, Guerrero López R, Serratosa JM, Linnankivi T, Lehesjoki AE, Ruf S, Wolff M, Buerki S, Wohlrab G, Kroell J, Datta AN, Fiedler B, Kurlemann G, Kluger G, Hahn A, Haberlandt DE, Kutzer C, Sperner J, Becker F, Weber YG, Feucht M, Steinböck H, Neophythou B, Ronen GM, Gruber-Sedlmayr U, Geldner J, Harvey RJ, Hoffmann P, Herms S, Altmüller J, Toliat MR, Thiele H, Nürnberg P, Wilhelm C, Stephani U, Helbig I, Lerche H, Zimprich F, Neubauer BA, Biskup S, von Spiczak S.

Nat Genet. 2013 Sep;45(9):1067-72. doi: 10.1038/ng.2728. Epub 2013 Aug 11.

PMID:
23933819
40.

Association between variants of PRDM1 and NDP52 and Crohn's disease, based on exome sequencing and functional studies.

Ellinghaus D, Zhang H, Zeissig S, Lipinski S, Till A, Jiang T, Stade B, Bromberg Y, Ellinghaus E, Keller A, Rivas MA, Skieceviciene J, Doncheva NT, Liu X, Liu Q, Jiang F, Forster M, Mayr G, Albrecht M, Häsler R, Boehm BO, Goodall J, Berzuini CR, Lee J, Andersen V, Vogel U, Kupcinskas L, Kayser M, Krawczak M, Nikolaus S, Weersma RK, Ponsioen CY, Sans M, Wijmenga C, Strachan DP, McArdle WL, Vermeire S, Rutgeerts P, Sanderson JD, Mathew CG, Vatn MH, Wang J, Nöthen MM, Duerr RH, Büning C, Brand S, Glas J, Winkelmann J, Illig T, Latiano A, Annese V, Halfvarson J, D'Amato M, Daly MJ, Nothnagel M, Karlsen TH, Subramani S, Rosenstiel P, Schreiber S, Parkes M, Franke A.

Gastroenterology. 2013 Aug;145(2):339-47. doi: 10.1053/j.gastro.2013.04.040. Epub 2013 Apr 25.

41.

Continent-wide decoupling of Y-chromosomal genetic variation from language and geography in native South Americans.

Roewer L, Nothnagel M, Gusmão L, Gomes V, González M, Corach D, Sala A, Alechine E, Palha T, Santos N, Ribeiro-Dos-Santos A, Geppert M, Willuweit S, Nagy M, Zweynert S, Baeta M, Núñez C, Martínez-Jarreta B, González-Andrade F, Fagundes de Carvalho E, da Silva DA, Builes JJ, Turbón D, Lopez Parra AM, Arroyo-Pardo E, Toscanini U, Borjas L, Barletta C, Ewart E, Santos S, Krawczak M.

PLoS Genet. 2013 Apr;9(4):e1003460. doi: 10.1371/journal.pgen.1003460. Epub 2013 Apr 11.

42.

Validation of reported genetic risk factors for periodontitis in a large-scale replication study.

Schaefer AS, Bochenek G, Manke T, Nothnagel M, Graetz C, Thien A, Jockel-Schneider Y, Harks I, Staufenbiel I, Wijmenga C, Eberhard J, Guzeldemir-Akcakanat E, Cine N, Folwaczny M, Noack B, Meyle J, Eickholz P, Trombelli L, Scapoli C, Nohutcu R, Bruckmann C, Doerfer C, Jepsen S, Loos BG, Schreiber S.

J Clin Periodontol. 2013 Jun;40(6):563-72. doi: 10.1111/jcpe.12092. Epub 2013 Apr 16.

PMID:
23587006
43.

Haplotypes of IL-12Rβ1 impact on the clinical phenotype of hidradenitis suppurativa.

Giatrakos S, Huse K, Kanni T, Tzanetakou V, Kramer M, Grech I, Papadavid E, Katoulis A, Stavrianeas N, Nothnagel M, Platzer M, Bauer M, Giamarellos-Bourboulis EJ.

Cytokine. 2013 May;62(2):297-301. doi: 10.1016/j.cyto.2013.03.008. Epub 2013 Apr 2.

PMID:
23557799
44.

Association studies of the copy-number variable ß-defensin cluster on 8p23.1 in adenocarcinoma and chronic pancreatitis.

Taudien S, Gäbel G, Kuss O, Groth M, Grützmann R, Huse K, Kluttig A, Wolf A, Nothnagel M, Rosenstiel P, Greiser KH, Werdan K, Krawczak M, Pilarsky C, Platzer M.

BMC Res Notes. 2012 Nov 13;5:629. doi: 10.1186/1756-0500-5-629.

45.

Genome-wide investigation of gene-environment interactions in colorectal cancer.

Siegert S, Hampe J, Schafmayer C, von Schönfels W, Egberts JH, Försti A, Chen B, Lascorz J, Hemminki K, Franke A, Nothnagel M, Nöthlings U, Krawczak M.

Hum Genet. 2013 Feb;132(2):219-31. doi: 10.1007/s00439-012-1239-2. Epub 2012 Nov 2.

PMID:
23114982
46.

Prognostic relevance of gastric cancer staging by endoscopic ultrasound.

Jürgensen C, Brand J, Nothnagel M, Arlt A, Neser F, Habeck JO, Schreiber S, Stölzel U, Zeitz M, Hampe J.

Surg Endosc. 2013 Apr;27(4):1124-9. doi: 10.1007/s00464-012-2558-z. Epub 2012 Oct 6.

PMID:
23052533
47.

Genome-wide association analysis reveals 12q13.3-q14.1 as new risk locus for sarcoidosis.

Hofmann S, Fischer A, Nothnagel M, Jacobs G, Schmid B, Wittig M, Franke A, Gaede KI, Schürmann M, Petrek M, Mrazek F, Pabst S, Grohé C, Grunewald J, Ronninger M, Eklund A, Rosenstiel P, Höhne K, Zissel G, Müller-Quernheim J, Schreiber S.

Eur Respir J. 2013 Apr;41(4):888-900. doi: 10.1183/09031936.00033812. Epub 2012 Aug 30.

48.

Genetic and functional identification of the likely causative variant for cholesterol gallstone disease at the ABCG5/8 lithogenic locus.

von Kampen O, Buch S, Nothnagel M, Azocar L, Molina H, Brosch M, Erhart W, von Schönfels W, Egberts J, Seeger M, Arlt A, Balschun T, Franke A, Lerch MM, Mayerle J, Kratzer W, Boehm BO, Huse K, Schniewind B, Tiemann K, Jiang ZY, Han TQ, Mittal B, Srivastava A, Fenger M, Jørgensen T, Schirin-Sokhan R, Tönjes A, Wittenburg H, Stumvoll M, Kalthoff H, Lammert F, Tepel J, Puschel K, Becker T, Schreiber S, Platzer M, Völzke H, Krawczak M, Miquel JF, Schafmayer C, Hampe J.

Hepatology. 2013 Jun;57(6):2407-17. doi: 10.1002/hep.26009. Epub 2013 Jan 25.

PMID:
22898925
49.

Genome-wide search for novel human uORFs and N-terminal protein extensions using ribosomal footprinting.

Fritsch C, Herrmann A, Nothnagel M, Szafranski K, Huse K, Schumann F, Schreiber S, Platzer M, Krawczak M, Hampe J, Brosch M.

Genome Res. 2012 Nov;22(11):2208-18. doi: 10.1101/gr.139568.112. Epub 2012 Aug 9.

50.

A novel sarcoidosis risk locus for Europeans on chromosome 11q13.1.

Fischer A, Schmid B, Ellinghaus D, Nothnagel M, Gaede KI, Schürmann M, Lipinski S, Rosenstiel P, Zissel G, Höhne K, Petrek M, Kolek V, Pabst S, Grohé C, Grunewald J, Ronninger M, Eklund A, Padyukov L, Gieger C, Wichmann HE, Nebel A, Franke A, Müller-Quernheim J, Hofmann S, Schreiber S.

Am J Respir Crit Care Med. 2012 Nov 1;186(9):877-85. doi: 10.1164/rccm.201204-0708OC. Epub 2012 Jul 26.

PMID:
22837380

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