Prof. Dr. Michael Nothnagel: Publications

PubMed Search

2024

Riesmeijer SA, Kamali Z, Ng M, Drichel D, Piersma B, Becker K, Layton TB, Nanchahal J, Nothnagel M, Vaez A, Hennies HC, Werker PMN, Furniss D, Nolte IM (2024). A genome-wide association meta-analysis implicates Hedgehog and Notch signalling in Dupuytren's disease. Nat Comm, 15(1):199. https://doi.org/10.1038/s41467-023-44451-0

2023

Khellaf L, Ralf A, Nguyen KT, Kayser M, Nothnagel M (2023) SMapper: Visualising spatial prevalence data of all types, including sparse and incomplete datasets. Bioinformatics Advances, Epub ahead of print. https://doi.org/10.1093/bioadv/vbad176

Macnee M, Pérez-Palma E, Brünger T, Klöckner C, Platzer K, Stefanski A, Montanucci L, Bayat A, Radtke M, Collins RL, Talkowski M, Blankenberg D, Møller RS, Lemke JR, Nothnagel M, May P, Lal D (2023) CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants online. Bioinformatics, 39(5):btad290. https://doi.org/10.1093/bioinformatics/btad290

International League Against Epilepsy Consortium on Complex Epilepsies. GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture. Nat Genet, 1471–1482 (2023). doi: 10.1038/s41588-023-01485-w
(among authors: M. Nothnagel)

J Ruiz-Ramírez, M de la Puente, C Xavier, A Ambroa-Conde, J Álvarez-Dios, A Freire-Aradas, A Mosquera-Miguel, A Ralf, C Amory, M A Katsara, T Khellaf, M Nothnagel, E Y Y Cheung, T E Gross, P M Schneider, J Uacyisrael, S Oliveira, M D N Klautau-Guimarães, C Carvalho-Gontijo, E Pośpiech, W Branicki, W Parson, M Kayser, A Carracedo, M V Lareu, C Phillips; VISAGE Consortium. Development and evaluations of the ancestry informative markers of the VISAGE Enhanced Tool for Appearance and Ancestry.
PMID: 36917866 DOI: 10.1016/j.fsigen.2023.102853 pubmed.ncbi.nlm.nih.gov/36917866

Nina Ishorst, Leonie Henschel, Frederic Thieme, Dmitriy Drichel, Sugirthan Sivalingam, Sarah L Mehrem, Ariane C Fechtner, Julia Fazaal, Julia Welzenbach, André Heimbach, Carlo Maj, Oleg Borisov, Jonas Hausen, Ruth Raff, Alexander Hoischen, Michael Dixon, Alvaro Rada-Iglesias, Michaela Bartusel, Augusto Rojas-Martinez, Khalid Aldhorae, Bert Braumann, Teresa Kruse, Christian Kirschneck, Gerrit Spanier, Heiko Reutter, Stefanie Nowak, Lina Gölz, Michael Knapp, Andreas Buness, Peter Krawitz, Markus M Nöthen, Michael Nothnagel, Tim Becker, Kerstin U Ludwig, Elisabeth Mangold. Identification of de novo variants in nonsyndromic cleft lip with/without cleft palate patients with low polygenic risk scores.
PMID: 36468602 DOI: 10.1002/mgg3.2109 pubmed.ncbi.nlm.nih.gov/36468602

Brünger T, Pérez-Palma E, Montanucci L, Nothnagel M, Møller R S, Schorge S, Zuberi S, Symonds J, Lemke J R, Brunklaus A, Traynelis S F , May P, Lal D. Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes. Brain, 2022https://pubmed.ncbi.nlm.nih.gov/36036558 DOI: 10.1093/brain/awac305

2022

C Xavier, M de la Puente, A Mosquera-Miguel, A Freire-Aradas, V Kalamara, A Ralf, A Revoir, T E Gross, P M Schneider, C Ames, C Hohoff, C Phillips, M Kayser, W Parson; VISAGE Consortium. Development and inter-laboratory evaluation of the VISAGE Enhanced Tool for Appearance and Ancestry inference from DNA. Epub
PMID: 36182793 DOI: 10.1016/j.fsigen.2022.102779 pubmed.ncbi.nlm.nih.gov/36182793

Adesoji O A, Schulz H, May P, Krause R, Lerche H, Nothnagel M, ILAE Consortium on Complex Epilepsies. Benchmarking of univariate pleiotropy detection methods applied to epilepsy. Hum Mutat, 2022 https://pubmed.ncbi.nlm.nih.gov/35620985/ DOI: 10.1002/humu.24417

A Heidegger, A Pisarek, M de la Puente, H Niederstätter, E Pośpiech, A Woźniak, N Schury, M Unterländer, M Sidstedt, K Junker, M Ventayol Garcia, F X Laurent, A Ulus, J Vannier, I Bastisch, J Hedman, T Sijen, W Branicki, C Xavier, W Parson, VISAGE Consortium. Development and inter-laboratory validation of the VISAGE enhanced tool for age estimation from semen using quantitative DNA methylation analysis. Forensic Sci Int Genet, 2022 https://pubmed.ncbi.nlm.nih.gov/34763164/
DOI: 10.1016/j.fsigen.2021.102596

2021

Anna Woźniak, Antonia Heidegger, Danuta Piniewska-Róg, Ewelina Pośpiech, Catarina Xavier, Aleksandra Pisarek, Ewa Kartasińska, Michał Boroń, Ana Freire-Aradas, Marta Wojtas, Maria de la Puente, Harald Niederstätter, Rafał Płoski, Magdalena Spólnicka, Manfred Kayser, Christopher Phillips, Walther Parson, Wojciech Branicki; VISAGE Consortium. Development of the VISAGE enhanced tool and statistical models for epigenetic age estimation in blood, buccal cells and bones. Epub
doi: 10.18632/aging.202783 pubmed.ncbi.nlm.nih.gov/33707346 PMID: 33707346

Hofmann S, Fritzsche P, Dorge T, Miehe G, Nothnagel M (2021). What makes a hot-spring habitat “hot” for the hot-spring snake: distributional data and niche modelling for the genus Thermophis (Serpentes, Colubridae). Diversity, 13:325. doi: doi.org/10.3390/d13070325

Mahmoud Koko, Roland Krause, Thomas Sander, Dheeraj Reddy Bobbili, Michael Nothnagel, Patrick May, Holger Lerche, Epi25 Collaborative. Distinct gene-set burden patterns underlie common generalized and focal epilepsies. EBioMedicine.
DOI: 10.1016/j.ebiom.2021.103588 pubmed.ncbi.nlm.nih.gov/34571366 PMID: 34571366

María de la Puente, Jorge Ruiz-Ramírez, Adrián Ambroa-Conde, Catarina Xavier, Jacobo Pardo-Seco, Jose Álvarez-Dios, Ana Freire-Aradas, Ana Mosquera-Miguel, Theresa E Gross, Elaine Y Y Cheung, Wojciech Branicki, Michael Nothnagel, Walther Parson, Peter M Schneider, Manfred Kayser, Ángel Carracedo, Maria Victoria Lareu, Christopher Phillips. Development and Evaluation of the Ancestry Informative Marker Panel of the VISAGE Basic Tool.
Genes (Basel), 12(8):1284. doi: 10.3390/genes12081284 PMID: 34440458

Katsara MA, Branicki W, Walsh S, Kayser M, Nothnagel M; VISAGE Consortium. (2021). Evaluation of supervised machine-learning methods for predicting appearance traits from DNA. Forensic Sci Int Genet. 2021 Mar 23;53:102507.
doi: doi.org/10.1016/j.fsigen.2021.102507. PMID: 33831816

Frye BC, Gaede KI, Saltini C, Rossman MD, Monos DS, Rosenman KD, Schuler CR, Weston A, Wegner R, Noth R, Zissel G, Schreiber S, Nothnagel M, Müller-Quernheim J (2021). Analysis of single nucleotide polymorphisms in chronic beryllium disease. Respir Res. 2021 Apr 16;22(1):107.
doi: doi.org/10.1186/s12931-021-01691-2. PMID: 33863318

Mohseni M, Babanejad M, Booth KT, Jamali P, Jalalvand K, Davarnia B, Ardalani F, Khoshaeen A, Arzhangi S, Ghodratpour F, Beheshtian M, Jahanshad F, Otukesh H, Bahrami F, Seifati SM, Bazazzadegan N, Habibi F, Behravan H, Mirzaei S, Keshavarzi F, Nikzat N, Mehrjoo Z, Thiele H, Nothnagel M, Azaiez H, Smith RJ, Kahrizi K, Najmabadi H. Exome sequencing utility in defining the genetic landscape of hearing loss and novel-gene discovery in Iran. Clin Genet. 2021 Mar 13. doi: 10.1111/cge.13956. Epub ahead of print. PMID: 33713422. Exome sequencing utility in defining the genetic landscape of hearing loss and novel-gene discovery in Iran.
Clin Genet, DOI: doi.org/10.1111/cge.13956
pubmed.ncbi.nlm.nih.gov/33713422

Katsara MA, Branicki W, Pośpiech E, Hysi P, Walsh S, Kayser M, Nothnagel M, VISAGE Consortium (2021) Testing the impact of trait prevalence priors in Bayesian-based genetic prediction modeling of human appearance traits. Forensic Sci Int Genet/, 50:102412. hdoi.org/10.1016/j.fsigen.2020.102412
Abstract

Villaescusa P, Seidel M, Nothnagel M, Pinotti T, González-Andrade F, Alvarez-Gila O, M de Pancorbo M, Roewer L (2021) A Y-chromosomal survey of Ecuador’s multi-ethnic population reveals new insights into the tri-partite population structure and supports an early Holocene age of the rare Native American founder lineage C3-MPB373. Forensic Sci Int Genet/, 51:102427. doi.org/10.1016/j.fsigen.2020.102427
Abstract

2020

Quach BC, Bray MJ, Gaddis NC, Liu M, Palviainen T, Minica CC, Zellers S, Sherva R, Aliev F, Nothnagel M, Young KA, Marks JA, Young H, Carnes MU, Guo Y, Waldrop A, Sey NYA, Landi MT, McNeil DW, Drichel D, Farrer LA, Markunas CA, Vink JM, Hottenga JJ, Iacono WG, Kranzler HR, Saccone NL, Neale MC, Madden P, Rietschel M, Marazita ML, McGue M, Won H, Winterer G, Grucza R, Dick DM, Gelernter J, Caporaso NE, Baker TB, Boomsma DI, Kaprio J, Hokanson JE, Vrieze S, Bierut LJ, Johnson EO, Hancock DB (2020). Expanding the genetic architecture of nicotine dependence and its shared genetics with multiple traits. Nat Comm, 11:5562.
https://www.nature.com/articles/s41467-020-19265-z

Chen Y, Branicki W, Walsh S, Nothnagel M, Kayser M, Liu F, on behalf of the VISAGE Consortium (2020). The impact of correlations between pigmentation phenotypes and underlying genotypes on genetic prediction of pigmentation traits. Forensic Sci Int Genet, Epub ahead of print. doi: https://doi.org/10.1016/j.fsigen.2020.102395
Abstract

Kanoungi G, Nothnagel M, Drichel D, Becker T (2020) The exhaustive genomic scan approach, with an application to rare-variant association analysis. Eur J Hum Genet, 28(9):1283-1291. doi: https://doi.org/10.1038/s41431-020-0639-3
Abstract

Caliebe A, Nothnagel M (2020) Special issue on 'Genetic epidemiology of complex diseases: impact of population history and modelling assumptions'. Hum Genet, 139(1):1-3. doi: https://doi.org/10.1007/s00439-019-02074-w
Abstract

Nothnagel M (2020) Towards a fine-scale picture of European genetic diversity. Eur J Hum Genet

2019

Halle U, Hähn C, Krause S, Krause-Kyora B, Nothnagel M, Drichel D, Wahl J (2019) Die Unsichtbaren. Menschen mit Trisomie 21 in Archäologie und Anthropologie. Arch Inf, 42.219-235.
Abstract

Zhao L, He Z, Zhang D, Wang GT, Renton AE, Vardarajan BN, Nothnagel M, Goate AM, Mayeux R, Leal SM.
A Rare Variant Nonparametric Linkage Method for Nuclear and Extended Pedigrees with Application to Late-Onset Alzheimer Disease via WGS Data.
Am J Hum Genet., 105(4):822-835. doi: https://doi.org/10.1016/j.ajhg.2019.09.006.
Abstract

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.
Distinct genetic variation and heterogeneity of the Iranian population.
PLoS Genet., 2019 Sep 24;15(9):e1008385. doi: 10.1371/journal.pgen.1008385. eCollection 2019 Sep.
Abstract

Lerche H, Berkovic SF, Lowenstein DH; EuroEPINOMICS-CoGIE Consortium; EpiPGX Consortium; Epi4K Consortium/Epilepsy Phenome/Genome Project.
Collaborators:
May P, Wolking S, Musa MK, Lal D, Heyne HO, Bobbili DR, Perez-Palma E, Schubert J, Becker F, Thiele H, Altmüller J, Jabbari K, Ruppert AK, Jurkowski W, Striano P, Caglayan H, Yalçın D, Dizdarer G, Aslan K, Yapici Z, Kuşcu D, Siren A, Møller RS, Hjalgrim H, Nikanorova M, Muhle H, Helbig I, Kunz W, Weber Y, Weckhuysen S, Jonghe P, Sisodiya S, Nabbout R, Balling R, Sander T, Koeleman BPC, Palotie A, Lehesjoki AE, Nothnagel M, Nürnberg P, Zara F, Krause R, Lerche H, Leu C, Wolking S, Peter S, Weber YG, Weckhuysen S, Møller RS, Nikanorova M, Muhle H, Avbersek A, Heggeli K, Striano P, Gambardella A, Langley SR, Krenn M, Klein KM, McCormack M, Borghei M, Willis J, Berghuis B, Jorgensen A, Auce P, Francis B, Srivastava P, Sonsma ACM, Sander JW, Zimprich F, Depondt C, Johnson MM, Marson AG, Sills GJ, Kunz WS, Cavalleri GL, Delanty N, Zara F, Krause R, Lerche H, Sisodiya SM, Heinzen EL, Petrovski S, Allen AS, Bellows ST, Berkovic SF, Bridgers J, Burgess R, Cavalleri G, Chung SK, Cossette P, Delanty N, Dlugos D, Epstein MP, Freyer C, Goldstein DB, Hildebrand MS, Johnson MR, Kuzniecky R, Lowenstein DH, Marson AG, Mayeux R, Mebane C, Mefford HC, O'Brien TJ, Ottman R, Petrou S, Pickrell WO, Poduri A, Radtke RA, Rees MI, Regan BM, Ren Z, Scheffer IE, Sills GJ, Thomas RH, Wang Q.
Intestinal-Cell Kinase and Juvenile Myoclonic Epilepsy.
N Engl J Med., 2019 Apr 18;380(16):e24. doi: 10.1056/NEJMc1805100.
Abstract

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.
Missense variants in NOX1 and p22phox in a case of very-early-onset inflammatory bowel disease are functionally linked to NOD2.
Cold Spring Harb Mol Case Stud., 2019 Feb 1;5(1). pii: a002428. doi: 10.1101/mcs.a002428. Print 2019 Feb.
Abstract

Katsara MA, Nothnagel M.
True colors: A literature review on the spatial distribution of eye and hair pigmentation.
Forensic Sci Int Genet., 39:109-118.doi.org/10.1016/j.fsigen.2019.01.001.
Abstract

Vidaki A, Kayser M, Nothnagel M.
Unsupported claim of significant discrimination between monozygotic twins from multiple pairs based on three age-related DNA methylation markers.
Forensic Sci Int Genet., Epub ahead of print. doi.org/10.1016/j.fsigen.2019.01.003.
Abstract

2018

Niestroj LM, Du J, Nothnagel M, May P, Palotie A, Daly MJ, Nürnberg P, Blümcke I, Lal D.
Guideline-based and bioinformatic reassessment of lesion-associated gene and variant pathogenicity in focal human epilepsies.
Epilepsia., 2018 Nov;59(11):2145-2152. doi: 10.1111/epi.14579. Epub 2018 Oct 20.
Abstract

Strathmann EA, Peters M, Hosseinibarkooie S, Rigo FW, Bennett CF, Zaworski PG, Chen KS, Nothnagel M, Wirth B.
Evaluation of potential effects of Plastin 3 overexpression and low-dose SMN-antisense oligonucleotides on putative biomarkers in spinal muscular atrophy mice.
PLoS One.. 2018 Sep 6;13(9):e0203398. doi: 10.1371/journal.pone.0203398. eCollection 2018.
Abstract

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.
Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study.
Lancet Neurol. 2018 Aug;17(8):699-708. doi: 10.1016/S1474-4422(18)30215-1. Epub 2018 Jul 17.
Abstract

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.
Heterozygous carriage of the alpha1-antitrypsin Pi*Z variant increases the risk to develop liver cirrhosis.
Gut. 2018 Aug 1. pii: gutjnl-2018-316228. doi: 10.1136/gutjnl-2018-316228. [Epub ahead of print]
Abstract

Ben Krause-Kyora, Marcel Nutsua, Lisa Boehme, Federica Pierini, Dorthe Dangvard Pedersen, Sabin-Christin Kornell, Dmitriy Drichel, Marion Bonazzi, Lena Möbus, Peter Tarp, Julian Susat, Esther Bosse, Beatrix Willburger, Alexander H. Schmidt, Jürgen Sauter, Andre Franke, Michael Wittig, Amke Caliebe, Michael Nothnagel, Stefan Schreiber, Jesper L. Boldsen, Tobias L. Lenz & Almut Nebel.
Ancient DNA study reveals HLA susceptibility locus for leprosy in medieval Europeans.
Nature Communications, 1569 (2018) doi:10.1038/s41467-018-03857-x
Abstract

Ernst C, Hahnen E, Engel C, Nothnagel M, Weber J, Schmutzler RK, Hauke J.
Performance of in silico prediction tools for the classification of rare BRCA1/2 missense variants in clinical diagnostics.
BMC Med Genomics 2018 Mar 27;11(1):35. doi: 10.1186/s12920-018-0353-y.
Abstract

Kanoungi G, Nothnagel M
Pathway-induced allelic spectra of diseases in the presence of strong genetic effects.
Hum Genet, 137(3):215-230
Abstract

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.
Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.
Eur J Hum Genet., 2018 Jan 22. doi: 10.1038/s41431-017-0034-x. [Epub ahead of print]
Abstract

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.
Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling.
Eur J Hum Genet. 2018 Jan 10. doi: 10.1038/s41431-017-0019-9. [Epub ahead of print]
Abstract

2017

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, Häesler 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.
Identification and characterization of two functional variants in the human longevity gene FOXO3.
Nat Commun. 2017 Dec 12;8(1):2063. doi: 10.1038/s41467-017-02183-y.
Abstract

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.
A Genome-wide Association Study of Dupuytren Disease Reveals 17 Additional Variants Implicated in Fibrosis.
Am J Hum Genet. 2017 Sep 7;101(3):417-427. doi: 10.1016/j.ajhg.2017.08.006.
Abstract

Koch M, Freitag-Wolf S, Schlesinger S, Borggrefe J, Hov JR, Jensen MK, Pick J, Markus MR, 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.
Serum metabolomic profiling highlights pathways associated with liver fat content in a general population sample.
Eur J Clin Nutr. 2017 Apr 5. doi: 10.1038/ejcn.2017.43. [Epub ahead of print]
Abstract

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.
Meta-analysis identifies novel risk loci and yields systematic insights into the biology of male-pattern baldness.
Nat Commun, 8 Mar 2017; 8:14694. doi: 10.1038/ncomms14694
Abstract

Kanoungi G, Nürnberg P, Nothnagel M
Securing the use of existing sample collections for future human genetic research
European Journal of Human Genetics, 1 February 2017; doi: 10.1038/ejhg.2017.1
Abstract

2016

Seemanova E, Varon R, Vejvalka J, Jarolim P, Seeman P, Chrzanowska KH, Digweed M, Resnick I, Kremensky, Saar K, Hoffmann K, Dutrannoy V, Karbasiyan M, Ghani M, Barić I, Tekin M, Kovacs P, Krawczak M, Reis A, Sperling K, Nothnagel M (2016).
The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?
PLoS ONE, 11(12): e0167984. doi:10.1371/journal.pone.0167984
Abstract

Diegoli TM, Rohde H, Borowski S, Krawczak M, Coble MD, Nothnagel M.
Genetic mapping of 15 human X chromosomal forensic short tandem repeat (STR) loci by means of multi-core parallelization.
Forensic Sci Int Genet, 2016 Jul 25;25:39-44. doi: 10.1016/j.fsigen.2016.07.004.[Epub ahead of print] PMID: 27497644
Abstract

Becker K, Siegert S, Toliat MR, Du J, Casper R, Dolmans GH, Werker PM, TinschertS, Franke A, Gieger C, Strauch K, Nothnagel M, Nürnberg P, Hennies HC; German upuytren Study Group.
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.
PLoS One, 2016 Jul 28;11(7):e0158101. doi: 10.1371/journal.pone.0158101. eCollection 2016. PMID: 27467239
Abstract

Lal D, Reinthaler EM, Dejanovic B, May P, Thiele H, Lehesjoki AE, Schwarz G, Riesch E, Ikram MA, van Duijn CM, Uitterlinden AG, Hofman A, Steinböck H, Gruber-Sedlmayr U, Neophytou B, Zara F, Hahn A; Genetic Commission of the Italian League against Epilepsy; EuroEPINOMICS CoGIE Consortium, Gormley P, Becker F, Weber YG, Cilio MR, Kunz WS, Krause R, Zimprich F, Lemke JR, Nürnberg P, Sander T, Lerche H, Neubauer BA.
Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes.
PLoS One, 2016 Mar 18;11(3):e0150426. doi: 10.1371/journal.pone.0150426. eCollection 2016.PMID: 26990884
Abstract

Crispatzu G, Herling CD, Schrader A, Nothnagel M, Herling M.
A critical evaluation of analytic aspects of gene expression profiling in lymphoid leukemias with broad applications to cancer genomics.
AIMS Medical Science.2016, 3(3): 248-271. doi: 10.3934/medsci.2016.3.248
Abstract

Lal D, Neubauer BA, Toliat MR, Altmüller J, Thiele H, Nürnberg P, Kamrath C, Schänzer A, Sander T, Hahn A, Nothnagel M.
Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing.
PLoS One, 2016 Jan 20;11(1):e0146040.doi: 10.1371/journal.pone.0146040. eCollection 2016. PubMed PMID: 26789268.
Abstract

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 S, Dibbens L, Weckhuysen S, Dahl HA, Biskup S, Tommerup N, Hjalgrim H, Lerche H, Beniczky S, Weber YG.
Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.
Ann Neurol, 2016 Mar;79(3):428-36. doi: 10.1002/ana.24580. Epub 2016 Feb 13.
Abstract

2015

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 A, 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.
A genome-wide association study confirms PNPLA3 and identifies TM6SF2 and MBOAT7 as risk loci for alcohol-related cirrhosis.
Nat Genet, 2015 Dec;47(12):1443-8. doi: 10.1038/ng.3417. Epub 2015 Oct 19.
Abstract

Abdallah AT, Fischer M, Nürnberg P, Nothnagel M, Frommolt P.
CoNCoS: Copy number estimation in cancer with controlled support.
J Bioinform Comput Biol., 2015 Oct;13(5):1550027. doi:10.1142/S0219720015500274. Epub 2015 Sep 4
Abstract

Nutsua M E, Fischer A, Nebel A, Hofmann S, Schreiber S, Krawczak M, Nothnagel M.
Family-Based Benchmarking of Copy Number Variation Detection Software.
PLoS One., 2015 Jul 21;10(7):e0133465. doi: 10.1371/journal.pone.0133465 eCollection 2015.
Abstract

Siegert S, Wolf A, Cooper D N, Krawczak M, Nothnagel M.
Mutations Causing Complex Disease May under Certain Circumstances Be Protective in an Epidemiological Sense.
PLoS One., 2015 Jul 10;10(7):e0132150. doi: 10.1371/journal.pone.0132150.eCollection 2015.
Abstract

Siegert S, Roewer L, Nothnagel M.
Shannon's equivocation for forensic Y-STR marker selection.
Forensic Sci Int Genet. 2015 Feb 9;16C:216-225. doi: 10.1016/j.fsigen.2015.02.001.
PMID: 25682312
Abstract

Reinthaler EM, Dejanovic B, Lal D, Semtner M, Merkler Y, Reinhold A, Pittrich DA, Hotzy C, Feucht M, Steinböck H, Gruber-Sedlmayr U, Ronen G, 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.
Rare variants in GABAA receptor genes in Rolandic epilepsy and related syndromes.
Annals of Neurology, 2015 Jun;77(6):972-86. doi: 10.1002/ana.24395. Epub 2015 Mar 28.

Syrbe S, Hedrich UB, 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, 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.
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
Nat Genet, 2015 Apr;47(4):393-9. doi: 10.1038/ng.3239. Epub 2015 Mar 9.
Abstract

2014

Hofmann S, Kraus S, Dorge T, Nothnagel M, Fritzsche P, Miehe G.
Effects of Pleistocene climatic fluctuations on the phylogeography, demography and population structure of a high-elevation snake species, Thermophis baileyi, on the Tibetan Plateau.
Journal of Biogeography, November 2014, 41(11):2162–2172. Article first published online : 7 JUN 2014, DOI: 10.1111/jbi.12358

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 D, Wolańska-Nowak P, Yong RY, Krawczak M, Nothnagel M*, Roewer L*.(* equal contribution)
A global analysis of Y-chromosomal haplotype diversity for 23 STR loci.
Forensic Science International: Genetics, 2014 Apr 28;12C:12-23. doi: 10.1016/j.fsigen.2014.04.008. PMID: 24854874
Abstract

Stickel F, Buch S, Zoller H, Hultcrantz R, Gallati S, Osterreicher 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.
Evaluation of genome-wide loci of iron metabolism in hereditary hemochromatosis identifies PCSK7 as a host risk factor of liver cirrhosis.
Hum Mol Genet., 2014 Jul 15;23(14):3883-90. doi: 10.1093/hmg/ddu076. Epub 2014 Feb 20. PMID:24556216
Abstract

2013

Siegert S, Yu Z, Wang-Sattler R, Illig T, Adamski J, Hampe J, Nikolaus S, Schreiber S, Krawczak M, Nothnagel M, Nöthlings U.
Diagnosing Fatty Liver Disease: A Comparative Evaluation of Metabolic Markers, Phenotypes, Genotypes and Established Biomarkers.
PLoS One., 2013 Oct 9;8(10):e76813.
PMID: 24130792
Abstract

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, López RG, 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.
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes.
Nature Genetics, 2013 Sep;45(9):1067-72. doi: 10.1038/ng.2728. Epub 2013 Aug 11. PMID: 23933819
Abstract

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, Hasler 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, Nothen MM, Duerr RH, Buning C, Brand S, Glas J, Winkelmann J, Illig T, Latiano A, Annese V, Halfvarson J, Damato M, Daly MJ, Nothnagel M, Karlsen TH, Subramani S, Rosenstiel P, Schreiber S, Parkes M, Franke A.
Association Between Variants of PRDM1 and NDP52 and Crohns Disease, Based on Exome Sequencing and Functional Studies.
Gastroenterology, 2013 Aug;145(2):339-47. doi: 10.1053/j.gastro.2013.04.040. Epub 2013 Apr 25. PMID: 23624108
Abstract

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, Aparecida da Silva D, José Builes J, Turbón D, Maria Lopez Parra A, Arroyo-Pardo E, Toscanini U, Borjas L, Barletta C, Ewart E, Santos S, Krawczak M (2013). (* equal contribution)

Continent-wide decoupling of Y-chromosomal genetic variation from language and geography in native South Americans.
PLoS Genetics, 2013 Apr;9(4):e1003460. doi: 10.1371/journal.pgen.1003460. Epub 2013 Apr 11. PMID: 23593040
Abstract

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 (2013).
Haplotypes of IL-12R1 impact on the clinical phenotype of hidradenitis suppurativa.
Cytokine. 2013 May;62(2):297-301 Epub ahead of print.
Abstract

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..
Validation of reported genetic risk factors for periodontitis in a large-scale replication study.
J Clin Periodontol. 2013 Jun;40(6):563-72. doi: 10.1111/jcpe.12092. Epub 2013 Apr 16.
Abstract

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..
Metabolic signature of electrosurgical liver dissection.
PLoS One. 2013 Sep 13;8(9):e72022. doi: 10.1371/journal.pone.0072022.
Abstract

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 (2013).
Genome-wide investigation of gene-environment interactions in colorectal cancer.
Hum Genet. 2013 Feb;132(2):219-31.
Abstract

2012

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 (2012.)
Association studies of the copy-number variable Ss-defensin cluster on 8p23.1 in adenocarcinoma and chronic pancreatitis.
BMC Res Notes, 2012 Nov 13;5:629. doi: 10.1186/1756-0500-5-629. PMID: 23148552
Abstract

Jürgensen C, Brand J, Nothnagel M, Arlt A, Neser F, Habeck JO, Schreiber S, Stölzel U, Zeitz M, Hampe J (2012).
Prognostic relevance of gastric cancer staging by endoscopic ultrasound.
Surg Endosc, 2013 Apr;27(4):1124-9. doi: 10.1007/s00464-012-2558-z. Epub 2012 Oct 6. PMID: 23052533
Abstract

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 (2012).
Genome-wide association analysis reveals 12q13.3-q14.1 as new risk locus for sarcoidosis.
Eur Respir J, 2013 Apr;41(4):888-900. doi: 10.1183/09031936.00033812. Epub 2012 Aug 30. PMID: 22936702
Abstract

Siegert S, Yu Z, Wang-Sattler R, Illig T, Adamski J, Schreiber S, Krawczak M, Nothnagel M, Nöthlings U (2012).
Sex Dependency of Human Metabolic Profiles Revisited.
Metabolomics, 2:115.
Abstract

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 (2012).
Genetic and functional identification of the likely causative variant for cholesterol gallstone disease at the ABCG5/8 lithogenic locus.
Hepatology, Epub ahead of print.
Abstract

Fritsch C, Herrmann A, Nothnagel M, Szafranski K, Huse K, Schumann F, Schreiber S, Platzer M, Krawczak M, Hampe J, Brosch M (2012).
Genome-wide search for novel human uORFs and N-terminal protein extensions using ribosomal footprinting.
Genome Res, 22(11):2208-18.
Abstract

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 (2012).
A Novel Sarcoidosis Risk Locus for Europeans on Chromosome 11q13.1.
Am J Respir Crit Care Med, 186(9):877-85.
Abstract

Thier S, Lorenz D, Nothnagel M, Poremba C, Papengut F, Appenzeller S, Paschen S, Hofschulte F, Hussl AC, Hering S, Poewe W, Asmus F, Gasser T, Schöls L, Christensen K, Nebel A, Schreiber S, Klebe S, Deuschl G, Kuhlenbäumer G (2012).
Polymorphisms in the glial glutamate transporter SLC1A2 are associated with essential tremor.
Neurology, 79(3):243-8.
Abstract

Nothnagel M, Szibor R, Vollrath O, Augustin C, Edelmann J, Geppert M, Alves C, Gusmão L, Vennemann M, Hou Y, Immel UD, Inturri S, Luo H, Lutz-Bonengel S, Robino C, Roewer L, Rolf B, Sanft J, Shin KJ, Sim JE, Wiegand P, Winkler C, Krawczak M, Hering S (2012).
Collaborative genetic mapping of 12 forensic short tandem repeat (STR) loci on the human X chromosome.
Forensic Sci Int Genet, 6(6):778-84.
Abstract

Ellinghaus D, Ellinghaus E, Nair RP, Stuart PE, Esko T, Metspalu A, Debrus S, Raelson JV, Tejasvi T, Belouchi M, West SL, Barker JN, Kõks S, Kingo K, Balschun T, Palmieri O, Annese V, Gieger C, Wichmann HE, Kabesch M, Trembath RC, Mathew CG, Abecasis GR, Weidinger S, Nikolaus S, Schreiber S, Elder JT, Weichenthal M, Nothnagel M*, Franke A* (2012). (* equal contribution)
Combined Analysis of Genome-wide Association Studies for Crohn Disease and Psoriasis Identifies Seven Shared Susceptibility Loci.
Am J Hum Genet, 90(4):636-47.
Abstract

Quednow BB, Brinkmeyer J, Mobascher A, Nothnagel M, Musso F, Gründer G, Savary N, Petrovsky N, Frommann I, Lennertz L, Spreckelmeyer KN, Wienker TF, Dahmen N, Thuerauf N, Clepce M, Kiefer F, Majic T, Mössner R, Maier W, Gallinat J, Diaz-Lacava A, Toliat MR, Thiele H, Nürnberg P, Wagner M, Winterer G (2012).
Schizophrenia risk polymorphisms in the TCF4 gene interact with smoking in the modulation of auditory sensory gating.
Proc Natl Acad Sci U S A, 109(16):6271-6.
Abstract

Helbig KL, Nothnagel M, Hampe J, Balschun T, Nikolaus S, Schreiber S, Franke A, Nothlings U (2012).
A case-only study of gene-environment interaction between genetic susceptibility variants in NOD2 and cigarette smoking in Crohn's disease aetiology.
BMC Med Genet, 14;13(1):14.
Abstract

Brosch M, von Schönfels W, Ahrens M, Nothnagel M, Krawczak M, Laudes M, Sipos B, Becker T, Schreiber S, Röcken C, Schafmayer C, Hampe J (2012).
SFRS10-A Splicing Factor Gene Reduced in Human Obesity?.
Cell Metab, 7;15(3):265-6.
Abstract

Rubin D, Helwig U, Pfeuffer M, Auinger A, Ruether A, Matusch D, Darabaneanu S, Freitag-Wolf S, Nothnagel M, Schreiber S, Schrezenmeir J (2012).
The effect of FABP2 promoter haplotype on response to a diet with medium-chain triacylglycerols.
Genes Nutr, 7(3):437-45.
AbstractRichter GM, Graetz C, Pohler P, Nothnagel M, Dommisch H, Laine ML, Folwaczny M, Noack B, Eickholz P, Groessner-Schreiber B, Jepsen S, Loos BG, Schreiber S, Schaefer AS (2012).
Common genetic risk variants of TLR2 are not associated with periodontitis in large European case-control populations.
J Clin Periodontol, 39(4):315-22.
Abstract

2011

Dolmans GH, Werker PM, Hennies HC, Furniss D, Festen EA, Franke L, Becker K, van der Vlies P, Wolffenbuttel BH, Tinschert S, Toliat MR, Nothnagel M, Franke A, Klopp N, Wichmann HE, Nürnberg P, Giele H, Ophoff RA, Wijmenga C; the Dutch Dupuytren Study Group, the German Dupuytren Study Group, the LifeLines Cohort Study, and the BSSH–GODD Consortium (2011).
Wnt Signaling and Dupuytren's Disease.
N Engl J Med, 365(4):307-17.
Abstract

Herrmann A, Haake A, Ammerpohl O, Martin-Guerrero I, Szafranski K, Stemshorn K, Nothnagel M, Kotsopoulos SK, Richter J, Warner J, Olson J, Link DR, Schreiber S, Krawczak M, Platzer M, Nürnberg P, Siebert R, Hampe J (2011).
Pipeline for Large-Scale Microdroplet Bisulfite PCR-Based Sequencing Allows the Tracking of Hepitype Evolution in Tumors.
PLoS One, 6(7):e21332.
Abstract

Thier S, Kuhlenbäumer G, Lorenz D, Nothnagel M, Nebel A, Christensen K, Schreiber S, Deuschl G, Klebe S (2011).
GABA(A) receptor- and GABA transporter polymorphisms and risk for essential tremor.
Eur J Neurol, 18(8):1098-100.
Abstract

Nebel A, Kleindorp R, Caliebe A, Nothnagel M, Blanché H, Junge O, Wittig M, Ellinghaus D, Flachsbart F, Wichmann HE, Meitinger T, Nikolaus S, Franke A, Krawczak M, Lathrop M, Schreiber S (2011).

A genome-wide association study confirms APOE as the major gene influencing survival in long-lived individuals.
Mech Ageing Dev, 132(6-7):324-30.
Abstract

Hofmann S, Fischer A, Till A, Müller-Quernheim J, Häsler R, Franke A, Gäde KI, Schaarschmidt H; GenPhenReSa Consortium, Rosenstiel P, Nebel A, Schürmann M, Nothnagel M, Schreiber S (2011).
A genome-wide association study reveals evidence of association with sarcoidosis at 6p12.1.
Eur Respir J, 38(5):1127-35.
Abstract

Nothnagel M*, Herrmann A*, Wolf A, Schreiber S, Platzer M, Siebert R, Krawczak M, Hampe J (2011).
Technology-specific error signatures in the 1000 Genomes Project data.
Hum Genet, 130(4):505-16. (* equal contribution)
Abstract

Nothnagel M, Wolf A, Herrmann A, Szafranski K, Vater I, Brosch M, Huse K, Siebert R, Platzer M, Hampe J, Krawczak M (2011).
Statistical inference of allelic imbalance from transcriptome data.
Hum Mutat, 32(1):98-106.
Abstract

Schaefer AS, Richter GM, Dommisch H, Reinartz M, Nothnagel M, Noack B, Laine ML, Folwaczny M, Groessner-Schreiber B, Loos BG, Jepsen S, Schreiber S (2011).
CDKN2BAS is associated with periodontitis in different European populations and is activated by bacterial infection.
J Med Genet, 48(1):38-47.
Abstract

Fischer A, Nothnagel M, Franke A, Jacobs G, Saadati HR, Gaede KI, Rosenstiel P, Schürmann M, Müller-Quernheim J, Schreiber S, Hofmann S (2011).

Association of IBD risk loci with sarcoidosis and its acute and chronic subphenotypes.
Eur Respir J, 37(3):610-6.
Abstract

2010

Buch S, Schafmayer C, Völzke H, Seeger M, Miquel JF, Sookoian SC, Egberts JH, Arlt A, Pirola CJ, Lerch MM, John U, Franke A, von Kampen O, Brosch M, Nothnagel M, Kratzer W, Boehm BO, Bröring CD, Schreiber S, Krawczak M, Hampe J (2010).
Loci from a genome-wide analysis of bilirubin levels are associated with gallstone risk and composition.
Gastroenterology, 139(6):1942-1951.
Abstract

Nothnagel M, Lu TT, Kayser M, Krawczak M (2010).
Genomic and geographic distribution of SNP-defined runs of homozygosity in Europeans.
Hum Mol Genet, 19(15):2927-35.
Abstract

Klebe S, Thier S, Lorenz D, Nothnagel M, Schreiber S, Klein C, Hagenah J, Kasten M, Berg D, Srulijes K, Gasser T, Deuschl G, Kuhlenbäumer G (2010).
LINGO1 is not associated with Parkinson's disease in German patients.
Am J Med Genet B Neuropsychiatr Genet, 153B(6):1173-8.
Abstract

Thier S, Lorenz D, Nothnagel M, Stevanin G, Dürr A, Nebel A, Schreiber S, Kuhlenbäumer G, Deuschl G, Klebe S (2010).
LINGO1 polymorphisms are associated with essential tremor in Europeans.
Mov Disord, 25(6):709-15.
Abstract

Fischer A, Nothnagel M, Schürmann M, Müller-Quernheim J, Schreiber S, Hofmann S (2010).
A genome-wide linkage analysis in 181 German sarcoidosis families using clustered bi-allelic markers.
Chest, 138(1):151-7.
Abstract

Flachsbart F, Caliebe A, Nothnagel M, Kleindorp R, von Eller-Eberstein H, Nikolaus S, Schreiber S, Nebel A (2010).
Depletion of potential A2M risk haplotype for Alzheimer disease in long-lived individuals.
Eur J Hum Genet, 18(1):59-61.
Abstract

Karlsen TH, Franke A, Melum E, Kaser A, Hov JR, Balschun T, Lie BA, Bergquist A, Schramm C, Weismüller TJ, Gotthardt D, Rust C, Philipp EER, Fritz T, Henckaerts L, Weersma R, Stokkers P, Ponsioen CY, Wijmenga C, Sterneck M, Nothnagel M, Hampe J, Teufel A, Runz H, Rosenstiel P, Stiehl A, Vermeire S, Beuers U, Manns M, Schrumpf E, Boberg KM, Schreiber S (2010).
Genome-wide association analysis in primary sclerosing cholangitis.
Gastroenterology, 138(3):1102-11.
Abstract

Nothnagel M, Schmidtke J, Krawczak M (2010).
Potentials and limits of pairwise kinship analysis using autosomal short tandem repeat loci.
Int J Legal Med, 124(3):205-15.
Abstract

Rubin D, Helwig U, Nothnagel M, Fölsch U, Schreiber S, Schrezenmeir J (2010).
Association of postprandial and fasting triglycerides with traits of the metabolic syndrome in the Metabolic Intervention Cohort Kiel (MICK).
Eur J Endocrinol, 162(4):719-27.
Abstract

Schäfer AS, Richter GM, Nothnagel M, Laine ML, Rühling A, Schäfer C, Cordes N, Noack B, Folwaczny M, Glas J, Dommisch H, Groessner-Schreiber B, Dörfner S, Jepsen S, Loos BG, Schreiber S (2010).
A 3' UTR transition within DEFB1 is associated with chronic and aggressive periodontitis.
Genes Immun, 11(1):45-54.
Abstract

Schäfer AS, Richter GM, Nothnagel M, Manke T, Dommisch H, Jacobs G, Arlt A, Rosenstiel P, Noack B, Groessner-Schreiber B, Jepsen S, Loos BG, Schreiber S (2010).
A genome-wide association study identifies GLT6D1 as a susceptibility locus for periodontitis.
Hum Mol Genet, 19(3):553-562.
Abstract

Schaefer AS, Richter GM, Nothnagel M, Laine ML, Noack B, Glas J, Schrezenmeir J, Groessner-Schreiber B, Jepsen S, Loos BG, Schreiber S (2010).
COX-2 is associated with periodontitis in Europeans.
J Dent Res, 89(4):384-8.
Abstract

2009

Siddiqui RA, Sauermann U, Altmüller J, Fritzer E, Nothnagel M, Dalibor N, Fellay J, Kaup FJ, Stahl-Hennig C, Nürnberg P, Krawczak M, Platzer M (2009).
X chromosomal variation is associated with slow progression to AIDS in HIV-1-infected women.
Am J Hum Genet 85:228-239.
Abstract

Loos BG, Fiebig A, Nothnagel M, Jepsen S, Groessner-Schreiber B, Franke A, Jervøe-Storm PM, Schenck K, van der Velden U, Schreiber S (2009).
NOD1 gene polymorphisms in relation to aggressive periodontitis.
Innate Immunity, 15:225-232.
Article

Lu TT*, Lao O*, Nothnagel M, Junge O, Freitag-Wolf S, Caliebe A, Balascakova M, Bertranpetit J, Bindoff LA, Comas D, Holmlund G, Kouvatsi A, Macek M, Mollet I, Parson W, Palo J, Ploski R, Sajantila A, Tagliabracci A, Gether U, Werge T, Rivadeneira F, Hofman A, Uitterlinden AG, Gieger C, Wichmann HE, Rüther A, Schreiber S, Becker C, Nürnberg P, Nelson MR, Kayser M*, Krawczak M* (2009).
An evaluation of the genetic-matched pair study design using genome-wide SNP data from the European population.
Eur J Hum Genet 17:967-975. (* equal contribution)
Abstract

Nothnagel M*, Ellinghaus D*, Schreiber S, Krawczak M, Franke A (2009).
A comprehensive evaluation of SNP genotype imputation.
Hum Genet 125:163-171. (* equal contribution)
Abstract

Helbig I, Mefford HC, Sharp AJ, Guipponi M, Fichera M, Franke A, Muhle H, de Kovel C, Baker C, von Spiczak S, Kron KL, Steinich I, Kleefu -Lie AA, Leu C, Gaus V, Schmitz B, Klein KM, Reif PS, Rosenow F, Weber Y, Lerche H, Zimprich F, Urak L, Fuchs K, Feucht M, Genton P, Thomas P, Visscher F, de Haan GJ, Møller RS, Hjalgrim H, Luciano D, Wittig M, Nothnagel M, Elger CE, Nürnberg P, Romano C, Malafosse A, Koeleman BPC, Lindhout D, Stephani U, Schreiber S, Eichler EE, Sander T (2009)
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy.
Nat Genet 41(2):160-2.
Abstract

Schaefer AS, Richter GM, Groessner-Schreiber B, Noack B, Nothnagel M, El Mokhtari NE, Loos BG, Jepsen S, Schreiber S (2009)
Identification of a shared genetic susceptibility locus for coronary heart disease and periodontitis.
PLoS Genet 5(2):e1000378.
Abstract

Ellinghaus D, Schreiber S, Franke, Nothnagel M (2009).
Current software for genotype imputation.
Hum Genomics, 3(4):371-380.
Abstract

2008

Hofmann S, Franke A, Fischer A, Jacobs G, Nothnagel M, Gaede KI, Schürmann M, Müller-Quernheim J, Krawczak M, Rosenstiel P, Schreiber S (2008)
Genome-wide association study identifies ANXA11 as a new susceptibility gene for sarcoidosis.
Nat Genet 40(9):1103-6..
Abstract

Franke A, Fischer A, Nothnagel M, Becker C, Grabe N, Till A, Lu TT, Müller-Quernheim J, Wittig M, Herrmann A, Balschun T, Hofmann S, Niemiec R, Schulz S, Hampe J, Nikolaus S, Nürnberg P, Krawczak M, Schürmann M, Rosenstiel P, Nebel A, Schreiber S (2008)
Genome-wide association analysis in sarcoidosis and Crohn disease unravels a common susceptibility locus on chromosome 10p12.2.
Gastroenterology 135(4):1207-15.
Abstract

Franke A, Balschun T, Karlsen TH, Sventoraityte J, Nikolaus S, Mayr G, Domingues FS, Albrecht M, Nothnagel M, Ellinghaus D, Sina C, Onnie CM, Weersma RK, Stokkers PCF, Wijmenga C, Gazouli M, Strachan D, McArdle WL, Vermeire S, Rutgeerts P, Rosenstiel P, Krawczak M, Vatn MH, the IBSEN study group, Mathew CG, Schreiber S (2008)
Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility.
Nat Genet 40(11):1319-23.
Abstract

Fiebig A, Jepsen S, Loos BG, Scholz C, Schäfer C, Rühling A, Nothnagel M, Eickholz P, van der Velden U, Schenck K, Schreiber S, Grössner-Schreiber B (2008)
Polymorphisms in the interleukin -1 (IL1) gene cluster are not associated with aggressive periodontitis in a large Caucasian population.
Genomics 92(5):309-15.
Abstract

Lao O*, Lu TT*, Nothnagel M, Junge O, Freitag-Wolf S, Caliebe A, Balascakova M, Bertranpetit J, Bindoff LA, Comas D, Holmlund G, Kouvatsi A, Macek M, Mollet I, Parson W, Palo J, Ploski R, Sajantila A, Tagliabracci A, Gether U, Werge T, Rivadeneira F, Hofman A, Uitterlinden AG, Gieger C, Wichmann HE, Rüther A, Schreiber S, Becker C, Nürnberg P, Nelson MR, Krawczak M*, Kayser M* (2008)
Correlation between genetic and geographic structure in Europe.
Curr Biol 18(16):1241-1248. (* equal contribution)
Abstract

Nothnagel M, Lu TT, Krawczak M (2008)
Hypotheses in genome-wide association scans.
Eur J Hum Genet 16(10):1174-1175.
Abstract

Rubin D, Claas S, Pfeuffer M, Nothnagel M, Foelsch UR, Schrezenmeir J (2008)
s-ICAM-1 and s-VCAM-1 in healthy men are strongly associated with traits of the metabolic syndrome, becoming evident in the postprandial response to a lipid-rich meal.
Lipids Health Dis 7:32.
Abstract

Fischer A, Valentonyte R, Nebel A, Nothnagel M, Müller-Quernheim J, Schürmann M, Schreiber S (2008)
Female-specific association of C-C chemokine receptor 5 gene polymorphisms with Löfgren´s syndrome.
J Mol Med 86(5):553-561.
Abstract

Rubin D, Helwig U, Nothnagel M, Lemke N, Fölsch UR, Schrezenmeir J (2008)
Postprandial plasma adiponectin decreases after glucose and high fat meal and is independently associated with postprandial triacylglycerols but not with -- 11388 promoter polymorphism.
Br J Nutr 99(1):76-82.
Abstract

Heckmann M, Holle JU, Arning L, Knaup S, Hellmich B, Nothnagel M, Jagiello P, Gross WL, Epplen JT, Wieczorek S (2008)
The Wegener's Granulomatosis quantitative trait locus on chromosome 6p21.3 as characterized by tagSNP genotyping.
Ann Rheum Dis 67(7):972-9.
Abstract

Nothnagel M (2008)
Gene als Risikofaktoren für erbliche Krankheiten
Bauchredner 3:22-26.
Article

2007

El Mokhtari NE, Ott SJ, Nebel A, Schäfer A, Rosenstiel P, Foerster M, Nothnagel M, Simon R, Schreiber S (2007)
Role of NOD2/CARD15 in coronary heart disease.
BMC Genetics 8:76.
Abstract

Wollstein A, Herrmann A, Wittig M, Nothnagel M, Franke A, Nürnberg P, Schreiber S, Krawczak M, Hampe J (2007)
Efficacy assessment of SNP sets for genome-wide disease association studies.
Nucleic Acids Res 35(17):e113.
Abstract

Macaluso F*, Nothnagel M*, Parwez Q, Petrasch-Parwez E, Bechara F, Epplen JT, Hoffjan S (2007)
Polymorphisms in NACHT-LRR (NLR) genes in atopic dermatitis.
Exp Dermatol 16(8):692-698. (* equal contribution)
Abstract

Nothnagel M, Wollstein A, Krawczak M (2007)
Comparative assessment of the association information captured by SNP tagging.
Hum Hered 64(1):27-34.
Abstract Hum Hered

Nebel A*, Flachsbart F*, Schäfer A, Nothnagel M, Nikolaus S, Mokhtari NE, Schreiber S (2007)
Role of the toll-like receptor 4 polymorphism Asp299Gly in longevity and myocardial infarction in German men.
Mech Ageing Dev 128(5-6):409-411. (* equal contribution)
Abstract

Helwig U, Rubin D, Klapper M, Li Y, Nothnagel M, Fölsch UR, Döring F, Schreiber S, Schrezenmeir J (2007) The association of fatty acid-binding protein 2 A54T polymorphism with postprandial lipemia depends on promoter variability.
Metabolism 56(6):723-31.
Abstract

Helwig U, Rubin D, Kiosz J, Schreiber S, Fölsch UR, Nothnagel M, Döring F, Schrezenmeir J (2007)
The minor allele of the PPARgamma2 Pro12Ala polymorphism is associated with lower postprandial TAG and insulin levels in non-obese healthy men.
Br J Nutr 97(5):847-54.
Abstract

Schimming TT, Parwez Q, Petrasch-Parwez E, Nothnagel M, Epplen JT, Hoffjan S (2007)
Association of toll-interacting protein gene polymorphisms with atopic dermatitis.
BMC Dermatol 16;7:3.
Abstract

Nothnagel M, Krawczak M (2007)
Modellvorstellungen zur Genetik multifaktorieller Krankheiten
Medizinische Genetik 19(3):295-299.
Abstract

2006

Hoffjan S, Parwez Q, Petrasch-Parwez E, Falkenstein D, Nothnagel M, Epplen JT (2006)
Association screen for atopic dermatitis candidate gene regions using microsatellite markers in pooled DNA samples.
Int J Immunogenet 33(6):401-9.
Abstract

2005

Nothnagel M, Rohde K (2005)
The effect of SNP marker selection on patterns of haplotype blocks and haplotype frequency estimates.
Am J Hum Genet 77:988-998.
Abstract Am J Hum Genet BibTeX reference Supplemental Material

2002

Nothnagel M, Ott J (2002)
Statistical gene mapping of traits in humans-hypertension as a complex trait: Is it amenable to genetic analysis?
Semin Nephrol. 22(2):105-14.
Abstract BibTeX reference

Gordon D, Finch SJ, Nothnagel M, Ott J (2002)
Power and sample size calculations for case-control genetic association tests when errors are present: application to single nucleotide polymorphisms.
Hum Hered 54(1):22-33.
Abstract Hum Hered BibTeX reference PAWE Web Calculator

Nothnagel M, Fürst R, Rohde K (2002)
Entropy as a measure for linkage disequilibrium over multilocus haplotype blocks.
Hum Hered 54(4):186-198.
Abstract Human Heredity BibTeX reference Web Calculator

1998

Schuster H, Lamprecht A, Junghans C, Dietz B, Baron H, Nothnagel M, Müller-Myhsok B, Luft FC (1998)
Approaches to the genetics of cardiovascular disease through genetic field work.
Kidney Int. 53(6):1449-54.
Abstract BibTeX reference

Ph.D. thesis

Diploma thesis