Juliane Winkelmann

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Juliane Winkelmann

Dr.med.

1997 …2025

Research activity per year

Search results

  • 2016

    Alterations in lipid and inositol metabolisms in two dopaminergic disorders

    Schulte, E. C., Altmaier, E., Berger, H. S., Do, K. T., Kastenmüller, G., Wahl, S., Adamski, J., Peters, A., Krumsiek, J., Suhre, K., Haslinger, B., Ceballos-Baumann, A., Gieger, C. & Winkelmann, J., Jan 2016, In: PLoS ONE. 11, 1, e0147129.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    33 Scopus citations

  • A TRAPPC6B splicing variant associates to restless legs syndrome

    Aridon, P., De Fusco, M., Winkelmann, J. W., Zucconi, M., Arnao, V., Ferini-Strambi, L. & Casari, G., 1 Oct 2016, In: Parkinsonism and Related Disorders. 31, p. 135-138 4 p.

    Research output: Contribution to journal › Article › peer-review

    10 Scopus citations

  • Dense genotyping of immune-related loci in idiopathic inflammatory myopathies confirms HLA alleles as the strongest genetic risk factor and suggests different genetic background for major clinical subgroups

    Rothwell, S., Cooper, R. G., Lundberg, I. E., Miller, F. W., Gregersen, P. K., Bowes, J., Vencovsky, J., Danko, K., Limaye, V., Selva-O'Callaghan, A., Hanna, M. G., Machado, P. M., Pachman, L. M., Reed, A. M., Rider, L. G., Cobb, J., Platt, H., Molberg, Ø., Benveniste, O. & Mathiesen, P. & 16 others, Radstake, T., Doria, A., De Bleecker, J., De Paepe, B., Maurer, B., Ollier, W. E., Padyukov, L., O'Hanlon, T. P., Lee, A., Amos, C. I., Gieger, C., Meitinger, T., Winkelmann, J., Wedderburn, L. R., Chinoy, H. & Lamb, J. A., 1 Aug 2016, In: Annals of the Rheumatic Diseases. 75, 8, p. 1558-1566 9 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    120 Scopus citations

  • Genetics of restless legs syndrome

    Rao, S., Winkelmann, J. & Wang, Q. K., 19 Apr 2016, Restless Legs Syndrome: Diagnosis and Treatment. CRC Press, p. 111-123 13 p.

    Research output: Chapter in Book/Report/Conference proceeding › Chapter › peer-review

  • Genome-wide association study in essential tremor identifies three new loci

    Müller, S. H., Girard, S. L., Hopfner, F., Merner, N. D., Bourassa, C. V., Lorenz, D., Clark, L. N., Tittmann, L., Soto-Ortolaza, A. I., Klebe, S., Hallett, M., Schneider, S. A., Hodgkinson, C. A., Lieb, W., Wszolek, Z. K., Pendziwiat, M., Lorenzo-Betancor, O., Poewe, W., Ortega-Cubero, S. & Seppi, K. & 29 others, Rajput, A., Hussl, A., Rajput, A. H., Berg, D., Dion, P. A., Wurster, I., Shulman, J. M., Srulijes, K., Haubenberger, D., Pastor, P., Vilariño-Güell, C., Postuma, R. B., Bernard, G., Ladwig, K. H., Dupré, N., Jankovic, J., Strauch, K., Panisset, M., Winkelmann, J., Testa, C. M., Reischl, E., Zeuner, K. E., Ross, O. A., Arzberger, T., Chouinard, S., Deuschl, G., Louis, E. D., Kuhlenbäumer, G. & Rouleau, G. A., Dec 2016, In: Brain. 139, 12, p. 3163-3169 7 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    73 Scopus citations

  • Guidelines for the first-line treatment of restless legs syndrome/Willis-Ekbom disease, prevention and treatment of dopaminergic augmentation: A combined task force of the IRLSSG, EURLSSG, and the RLS-foundation

    Garcia-Borreguero, D., Silber, M. H., Winkelman, J. W., Högl, B., Bainbridge, J., Buchfuhrer, M., Hadjigeorgiou, G., Inoue, Y., Manconi, M., Oertel, W., Ondo, W., Winkelmann, J. & Allen, R. P., 1 May 2016, In: Sleep Medicine. 21, p. 1-11 11 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    237 Scopus citations

  • Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia

    Zech, M., Boesch, S., Maier, E. M., Borggraefe, I., Vill, K., Laccone, F., Pilshofer, V., Ceballos-Baumann, A., Alhaddad, B., Berutti, R., Poewe, W., Haack, T. B., Haslinger, B., Strom, T. M. & Winkelmann, J., 1 Dec 2016, In: American Journal of Human Genetics. 99, 6, p. 1377-1387 11 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    131 Scopus citations

  • Lack of association between genetic risk loci for restless legs syndrome and multimorbidity

    Szentkirályi, A., Völzke, H., Hoffmann, W., Winkelmann, J. & Berger, K., 2016, In: Sleep. 39, 1, p. 111-115 5 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    6 Scopus citations

  • Restless legs syndrome associated with major diseases

    Trenkwalder, C., Allen, R., Högl, B., Paulus, W. & Winkelmann, J., 5 Apr 2016, In: Neurology. 86, 14, p. 1336-1343 8 p.

    Research output: Contribution to journal › Review article › peer-review

    Open Access
    284 Scopus citations

  • Systematic protein-protein interaction and pathway analyses in the idiopathic inflammatory myopathies

    The Myositis Genetics Consortium (MYOGEN), 7 Jul 2016, In: Arthritis Research and Therapy. 18, 1, 156.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    4 Scopus citations

  • Systematic TOR1A non-c.907_909delGAG variant analysis in isolated dystonia and controls

    Zech, M., Jochim, A., Boesch, S., Weber, S., Meindl, T., Peters, A., Gieger, C., Mueller, J., Messner, M., Ceballos-Baumann, A., Poewe, W., Haslinger, B. & Winkelmann, J., 1 Oct 2016, In: Parkinsonism and Related Disorders. 31, p. 119-123 5 p.

    Research output: Contribution to journal › Article › peer-review

    3 Scopus citations

  • The clinical phenotype of early-onset isolated dystonia caused by recessive COL6A3 mutations (DYT27)

    Jochim, A., Zech, M., Gora-Stahlberg, G., Winkelmann, J. & Haslinger, B., 1 May 2016, In: Movement Disorders. 31, 5, p. 747-750 4 p.

    Research output: Contribution to journal › Article › peer-review

    16 Scopus citations
  • 2015

    Association of CLEC16A with human common variable immunodeficiency disorder and role in murine B cells

    Li, J., Jørgensen, S. F., Maggadottir, S. M., Bakay, M., Warnatz, K., Glessner, J., Pandey, R., Salzer, U., Schmidt, R. E., Perez, E., Resnick, E., Goldacker, S., Buchta, M., Witte, T., Padyukov, L., Videm, V., Folseraas, T., Atschekzei, F., Elder, J. T. & Nair, R. P. & 19 others, Winkelmann, J., Gieger, C., Nöthen, M. M., Büning, C., Brand, S., Sullivan, K. E., Orange, J. S., Fevang, B., Schreiber, S., Lieb, W., Aukrust, P., Chapel, H., Cunningham-Rundles, C., Franke, A., Karlsen, T. H., Grimbacher, B., Hakonarson, H., Hammarström, L. & Ellinghaus, E., 20 Apr 2015, In: Nature Communications. 6, 6804.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    57 Scopus citations

  • Class II HLA interactions modulate genetic risk for multiple sclerosis

    Moutsianas, L., Jostins, L., Beecham, A. H., Dilthey, A. T., Xifara, D. K., Ban, M., Shah, T. S., Patsopoulos, N. A., Alfredsson, L., Anderson, C. A., Attfield, K. E., Baranzini, S. E., Barrett, J., Binder, T. M. C., Booth, D., Buck, D., Celius, E. G., Cotsapas, C., D'Alfonso, S. & Dendrou, C. A. & 35 others, Donnelly, P., Dubois, B., Fontaine, B., Fugger, L., Goris, A., Gourraud, P. A., Graetz, C., Hemmer, B., Hillert, J., Kockum, I., Leslie, S., Lill, C. M., Martinelli-Boneschi, F., Oksenberg, J. R., Olsson, T., Oturai, A., Saarela, J., SØndergaard, H. B., Spurkland, A., Taylor, B., Winkelmann, J., Zipp, F., L Haines, J., Pericak-Vance, M. A., Spencer, C. C. A., Stewart, G., Hafler, D. A., Ivinson, A. J., Harbo, H. F., Hauser, S. L., De Jager, P. L., Compston, A., McCauley, J. L., Sawcer, S. & McVean, G., 29 Sep 2015, In: Nature Genetics. 47, 10, p. 1107-1113 7 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    273 Scopus citations

  • Clinical Phenotype and Genetics of Restless Legs Syndrome

    Schulte, E. C. & Winkelmann, J., 2015, Movement Disorders: Genetics and Models: Second Edition. Elsevier Inc., p. 1145-1162 18 p.

    Research output: Chapter in Book/Report/Conference proceeding › Chapter › peer-review

  • Corrigendum: Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis

    Benyamin, B., Esko, T., Ried, J. S., Radhakrishnan, A., Vermeulen, S. H., Traglia, M., Gögele, M., Anderson, D., Broer, L., Podmore, C., Luan, J., Kutalik, Z., Sanna, S., Van Der Meer, P., Tanaka, T., Wang, F., Westra, H. J., Franke, L., Mihailov, E. & Milani, L. & 49 others, Hälldin, J., Winkelmann, J., Meitinger, T., Thiery, J., Peters, A., Waldenberger, M., Rendon, A., Jolley, J., Sambrook, J., Kiemeney, L. A., Sweep, F. C., Sala, C. F., Schwienbacher, C., Pichler, I., Hui, J., Demirkan, A., Isaacs, A., Amin, N., Steri, M., Waeber, G., Verweij, N., Powell, J. E., Nyholt, D. R., Heath, A. C., Madden, P. A. F., Visscher, P. M., Wright, M. J., Montgomery, G. W., Martin, N. G., Hernandez, D., Bandinelli, S., Van Der Harst, P., Uda, M., Vollenweider, P., Scott, R. A., Langenberg, C., Wareham, N. J., Van Duijn, C., Beilby, J., Pramstaller, P. P., Hicks, A. A., Ouwehand, W. H., Oexle, K., Gieger, C., Metspalu, A., Camaschella, C., Toniolo, D., Swinkels, D. W. & Whitfield, J. B., Mar 2015, In: Nature Communications. 6, 6542.

    Research output: Contribution to journal › Comment/debate

    Open Access
    9 Scopus citations

  • Excess of rare coding variants in PLD3 in late-but not early-onset Alzheimer’s disease

    Schulte, E. C., Kurz, A., Alexopoulos, P., Hampel, H., Peters, A., Gieger, C., Rujescu, D., Diehl-Schmid, J. & Winkelmann, J., 2015, In: Human Genome Variation. 2, 1, 14028.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    16 Scopus citations

  • Genome-wide Association Analysis of Psoriatic Arthritis and Cutaneous Psoriasis Reveals Differences in Their Genetic Architecture

    Stuart, P. E., Nair, R. P., Tsoi, L. C., Tejasvi, T., Das, S., Kang, H. M., Ellinghaus, E., Chandran, V., Callis-Duffin, K., Ike, R., Li, Y., Wen, X., Enerbäck, C., Gudjonsson, J. E., Kõks, S., Kingo, K., Esko, T., Mrowietz, U., Reis, A. & Wichmann, H. E. & 20 others, Gieger, C., Hoffmann, P., Nöthen, M. M., Winkelmann, J., Kunz, M., Moreta, E. G., Mease, P. J., Ritchlin, C. T., Bowcock, A. M., Krueger, G. G., Lim, H. W., Weidinger, S., Weichenthal, M., Voorhees, J. J., Rahman, P., Gregersen, P. K., Franke, A., Gladman, D. D., Abecasis, G. R. & Elder, J. T., 3 Dec 2015, In: American Journal of Human Genetics. 97, 6, p. 816-836 21 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    245 Scopus citations

  • High-density mapping of the MHC identifies a shared role for HLA-DRB1∗01:03 in inflammatory bowel diseases and heterozygous advantage in ulcerative colitis

    Australia and New Zealand IBDGC, Belgium IBD Genetics Consortium, Italian Group for IBD Genetic Consortium, NIDDK Inflammatory Bowel Disease Genetics Consortium, United Kingdom IBDGC & Wwellcome Trust Case Control Consortium &Quebec IBD Genetics Consortium, 1 Jan 2015, In: Nature Genetics. 47, 2, p. 172-179 8 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    253 Scopus citations

  • Identification of immune-relevant factors conferring sarcoidosis genetic risk

    Fischer, A., Ellinghaus, D., Nutsua, M., Hofmann, S., Montgomery, C. G., Iannuzzi, M. C., Rybicki, B. A., Petrek, M., Mrazek, F., Pabst, S., Grohè, C., Grunewald, J., Ronninger, M., Eklund, A., Padyukov, L., Mihailovic-Vucinic, V., Jovanovic, D., Sterclova, M., Homolka, J. & Nöthen, M. M. & 15 others, Herms, S., Gieger, C., Strauch, K., Winkelmann, J., Boehm, B. O., Brand, S., Büning, C., Schürmann, M., Ellinghaus, E., Baurecht, H., Lieb, W., Nebel, A., Müller-Quernheim, J., Franke, A. & Schreiber, S., 15 Sep 2015, In: American Journal of Respiratory and Critical Care Medicine. 192, 6, p. 727-736 10 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    101 Scopus citations

  • Large-scale TUBB4A mutational screening in isolated dystonia and controls

    Zech, M., Boesch, S., Jochim, A., Graf, S., Lichtner, P., Peters, A., Gieger, C., Mueller, J., Poewe, W., Haslinger, B. & Winkelmann, J., 1 Oct 2015, In: Parkinsonism and Related Disorders. 21, 10, p. 1278-1281 4 p., 2740.

    Research output: Contribution to journal › Article › peer-review

    8 Scopus citations

  • Rare variants in β-Amyloid precursor protein (APP) and Parkinson's disease

    Schulte, E. C., Fukumori, A., Mollenhauer, B., Hor, H., Arzberger, T., Perneczky, R., Kurz, A., Diehl-Schmid, J., Hüll, M., Lichtner, P., Eckstein, G., Zimprich, A., Haubenberger, D., Pirker, W., Brücke, T., Bereznai, B., Molnar, M. J., Lorenzo-Betancor, O., Pastor, P. & Peters, A. & 7 others, Gieger, C., Estivill, X., Meitinger, T., Kretzschmar, H. A., Trenkwalder, C., Haass, C. & Winkelmann, J., 22 Oct 2015, In: European Journal of Human Genetics. 23, 10, p. 1328-1333 6 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    42 Scopus citations

  • Recessive Mutations in the α3 (VI) Collagen Gene COL6A3 Cause Early-Onset Isolated Dystonia

    Zech, M., Lam, D. D., Francescatto, L., Schormair, B., Salminen, A. V., Jochim, A., Wieland, T., Lichtner, P., Peters, A., Gieger, C., Lochmüller, H., Strom, T. M., Haslinger, B., Katsanis, N. & Winkelmann, J., 1 May 2015, In: American Journal of Human Genetics. 96, 6, p. 883-893 11 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    83 Scopus citations

  • Reply to letter: Novel compound heterozygous mutations in PRKRA cause pure dystonia

    Zech, M., Castrop, F., Haslinger, B. & Winkelmann, J., 1 May 2015, In: Movement Disorders. 30, 6, p. 878-879 2 p.

    Research output: Contribution to journal › Letter › peer-review

  • Restless legs syndrome - Current therapies and management of augmentation

    Trenkwalder, C., Winkelmann, J., Inoue, Y. & Paulus, W., 8 Aug 2015, In: Nature Reviews Neurology. 11, 8, p. 434-445 12 p.

    Research output: Contribution to journal › Review article › peer-review

    66 Scopus citations

  • TOR1A, THAP1, and GNAL mutational screening in Austrian patients with primary isolated dystonia

    Zech, M., Boesch, S., Sycha, T., Mueller, J., Poewe, W. & Winkelmann, J., 1 Nov 2015, In: Movement Disorders. 30, 13, p. 1853-1854 2 p.

    Research output: Contribution to journal › Letter › peer-review

    6 Scopus citations
  • 2014

    Blood cis-eQTL analysis fails to identify novel association signals among sub-threshold candidates from genome-wide association studies in restless legs syndrome

    Schulte, E. C., Schramm, K., Schurmann, C., Lichtner, P., Herder, C., Roden, M., Gieger, C., Peters, A., Trenkwalder, C., Högl, B., Frauscher, B., Berger, K., Fietze, I., Gross, N., Stiasny-Kolster, K., Oertel, W., Bachmann, C. G., Paulus, W., Zimprich, A. & Völzke, H. & 7 others, Schminke, U., Nauck, M., Illig, T., Meitinger, T., Müller-Myhsok, B., Prokisch, H. & Winkelmann, J., 29 May 2014, In: PLoS ONE. 9, 5, e98092.

    Research output: Contribution to journal › Article › peer-review

    Open Access

  • DYT16 revisited: Exome sequencing identifies PRKRA mutations in a European dystonia family

    Zech, M., Castrop, F., Schormair, B., Jochim, A., Wieland, T., Gross, N., Lichtner, P., Peters, A., Gieger, C., Meitinger, T., Strom, T. M., Oexle, K., Haslinger, B. & Winkelmann, J., Oct 2014, In: Movement Disorders. 29, 12, p. 1504-1510 7 p.

    Research output: Contribution to journal › Article › peer-review

    41 Scopus citations

  • HLA DQB1∗06:02 negative narcolepsy with hypocretin/orexin deficiency

    Han, F., Lin, L., Schormair, B., Pizza, F., Plazzi, G., Ollila, H. M., Nevsimalova, S., Jennum, P., Knudsen, S., Winkelmann, J., Coquillard, C., Babrzadeh, F., Strom, T. M., Wang, C., Mindrinos, M., Vina, M. F. & Mignot, E., 1 Oct 2014, In: Sleep. 37, 10, p. 1601-1608 8 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    61 Scopus citations

  • Iron in Restless Legs Syndrome

    Schulte, E. C., Kaffe, M., Schormair, B. & Winkelmann, J., Sep 2014, In: Movement Disorders Clinical Practice. 1, 3, p. 161-172 12 p.

    Research output: Contribution to journal › Review article › peer-review

    Open Access
    6 Scopus citations

  • "Malignant restless legs syndrome"-A curse or a blessing?

    Schulte, E. C., Gross, N., Slawik, H. & Winkelmann, J., Jan 2014, In: Sleep Medicine. 15, 1, p. 155-156 2 p.

    Research output: Contribution to journal › Letter › peer-review

  • Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy

    Elkan, P. N., Pierce, S. B., Segel, R., Walsh, T., Barash, J., Padeh, S., Zlotogorski, A., Berkun, Y., Press, J. J., Mukamel, M., Voth, I., Hashkes, P. J., Harel, L., Hoffer, V., Ling, E., Yalcinkaya, F., Kasapcopur, O., Lee, M. K., Klevit, R. E. & Renbaum, P. & 15 others, Weinberg-Shukron, A., Sener, E. F., Schormair, B., Zeligson, S., Marek-Yagel, D., Strom, T. M., Shohat, M., Singer, A., Rubinow, A., Pras, E., Winkelmann, J., Tekin, M., Anikster, Y., King, M. C. & Levy-Lahad, E., 2014, In: New England Journal of Medicine. 370, 10, p. 921-931 11 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    535 Scopus citations

  • Narcolepsy is a common phenotype in HSAN IE and ADCA-DN

    Moghadam, K. K., Pizza, F., La Morgia, C., Franceschini, C., Tonon, C., Lodi, R., Barboni, P., Seri, M., Ferrari, S., Liguori, R., Donadio, V., Parchi, P., Cornelio, F., Inzitari, D., Mignarri, A., Capocchi, G., Dotti, M. T., Winkelmann, J., Lin, L. & Mignot, E. & 2 others, Carelli, V. & Plazzi, G., Jun 2014, In: Brain. 137, 6, p. 1643-1655 13 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    49 Scopus citations

  • Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis

    Benyamin, B., Esko, T., Ried, J. S., Radhakrishnan, A., Vermeulen, S. H., Traglia, M., Gögele, M., Anderson, D., Broer, L., Podmore, C., Luan, J., Kutalik, Z., Sanna, S., Van Der Meer, P., Tanaka, T., Wang, F., Westra, H. J., Franke, L., Mihailov, E. & Milani, L. & 49 others, Häldin, J., Winkelmann, J., Meitinger, T., Thiery, J., Peters, A., Waldenberger, M., Rendon, A., Jolley, J., Sambrook, J., Kiemeney, L. A., Sweep, F. C., Sala, C. F., Schwienbacher, C., Pichler, I., Hui, J., Demirkan, A., Isaacs, A., Amin, N., Steri, M., Waeber, G., Verweij, N., Powell, J. E., Nyholt, D. R., Heath, A. C., Madden, P. A. F., Visscher, P. M., Wright, M. J., Montgomery, G. W., Martin, N. G., Hernandez, D., Bandinelli, S., Van Der Harst, P., Uda, M., Vollenweider, P., Scott, R. A., Langenberg, C., Wareham, N. J., Van Duijn, C., Beilby, J., Pramstaller, P. P., Hicks, A. A., Ouwehand, W. H., Oexle, K., Gieger, C., Metspalu, A., Camaschella, C., Toniolo, D., Swinkels, D. W. & Whitfield, J. B., 2014, In: Nature Communications. 5, 4926.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    204 Scopus citations

  • Periodic leg movements during sleep are associated with polymorphisms in BTBD9, TOX3/BC034767, MEIS1, MAP2K5/SKOR1, and PTPRD

    Moore IV, H., Winkelmann, J., Lin, L., Finn, L., Peppard, P. & Mignot, E., 1 Sep 2014, In: Sleep. 37, 9, p. 1535-1542 8 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    93 Scopus citations

  • Polysomnographic and neurometabolic features may mark preclinical autosomal dominant cerebellar ataxia, deafness, and narcolepsy due to a mutation in the DNA (cytosine-5-)-methyltransferase gene, DNMT1

    Moghadam, K. K., Pizza, F., Tonon, C., Lodi, R., Carelli, V., Poli, F., Franceschini, C., Barboni, P., Seri, M., Ferrari, S., La Morgia, C., Testa, C., Cornelio, F., Liguori, R., Winkelmann, J., Lin, L., Mignot, E. & Plazzi, G., May 2014, In: Sleep Medicine. 15, 5, p. 582-585 4 p.

    Research output: Contribution to journal › Article › peer-review

    5 Scopus citations

  • Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls

    Zech, M., Gross, N., Jochim, A., Castrop, F., Kaffe, M., Dresel, C., Lichtner, P., Peters, A., Gieger, C., Meitinger, T., Haslinger, B. & Winkelmann, J., Jan 2014, In: Movement Disorders. 29, 1, p. 143-147 5 p.

    Research output: Contribution to journal › Article › peer-review

    44 Scopus citations

  • Rare variants in LRRK1 and Parkinson's disease

    Schulte, E. C., Ellwanger, D. C., Dihanich, S., Manzoni, C., Stangl, K., Schormair, B., Graf, E., Eck, S., Mollenhauer, B., Haubenberger, D., Pirker, W., Zimprich, A., Brücke, T., Lichtner, P., Peters, A., Gieger, C., Trenkwalder, C., Mewes, H. W., Meitinger, T. & Lewis, P. A. & 2 others, Klünemann, H. H. & Winkelmann, J., Mar 2014, In: Neurogenetics. 15, 1, p. 49-57 9 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    19 Scopus citations

  • Restless Legs Syndrome-Associated intronic common variant in Meis1 alters enhancer function in the developing telencephalon

    Spieler, D., Kaffe, M., Knauf, F., Bessa, J., Tena, J. J., Giesert, F., Schormair, B., Tilch, E., Lee, H., Horsch, M., Czamara, D., Karbalai, N., Toerne, C. V., Waldenberger, M., Gieger, C., Lichtner, P., Claussnitzer, M., Naumann, R., Müller-Myhsok, B. & Torres, M. & 15 others, Garrett, L., Rozman, J., Klingenspor, M., Gailus-Durner, V., Fuchs, H., De Angelis, M. H., Beckers, J., Hölter, S. M., Meitinger, T., Hauck, S. M., Laumen, H., Wurst, W., Casares, F., Gómez-Skarmeta, J. L. & Winkelmann, J., Apr 2014, In: Genome Research. 24, 4, p. 592-603 12 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    89 Scopus citations

  • Targeted resequencing and systematic in vivo functional testing identifies rare variants in MEIS1 as significant contributors to restless legs syndrome

    Schulte, E. C., Kousi, M., Tan, P. L., Tilch, E., Knauf, F., Lichtner, P., Trenkwalder, C., Högl, B., Frauscher, B., Berger, K., Fietze, I., Hornyak, M., Oertel, W. H., Bachmann, C. G., Zimprich, A., Peters, A., Gieger, C., Meitinger, T., Müller-Myhsok, B. & Katsanis, N. & 1 others, Winkelmann, J., 3 Jul 2014, In: American Journal of Human Genetics. 95, 1, p. 85-95 11 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    41 Scopus citations
  • 2013

    A "Candidate-Interactome" Aggregate Analysis of Genome-Wide Association Data in Multiple Sclerosis

    Mechelli, R., Umeton, R., Policano, C., Annibali, V., Coarelli, G., Ricigliano, V. A. G., Vittori, D., Fornasiero, A., Buscarinu, M. C., Romano, S., Salvetti, M., Ristori, G., Sawcer, S., Hellenthal, G., Pirinen, M., Spencer, C. C. A., Patsopoulos, N. A., Moutsianas, L., Dilthey, A. & Su, Z. & 233 others, Freeman, C., Hunt, S. E., Edkins, S., Gray, E., Booth, D. R., Potter, S. C., Goris, A., Band, G., Oturai, A. B., Strange, A., Saarela, J., Bellenguez, C., Fontaine, B., Gillman, M., Hemmer, B., Gwilliam, R., Zipp, F., Jayakumar, A., Martin, R., Leslie, S., Hawkins, S., Giannoulatou, E., D'alfonso, S., Blackburn, H., Boneschi, F. M., Liddle, J., Harbo, H. F., Perez, M. L., Spurkland, A., Waller, M. J., Mycko, M. P., Ricketts, M., Comabella, M., Hammond, N., Kockum, I., McCann, O. T., Ban, M., Whittaker, P., Kemppinen, A., Weston, P., Hawkins, C., Widaa, S., Zajicek, J., Dronov, S., Robertson, N., Bumpstead, S. J., Barcellos, L. F., Ravindrarajah, R., Abraham, R., Alfredsson, L., Ardlie, K., Aubin, C., Baker, A., Baker, K., Baranzini, S. E., Bergamaschi, L., Bergamaschi, R., Bernstein, A., Berthele, A., Boggild, M., Bradfield, J. P., Brassat, D., Broadley, S. A., Buck, D., Butzkueven, H., Capra, R., Carroll, W. M., Cavalla, P., Celius, E. G., Cepok, S., Chiavacci, R., Clerget-Darpoux, F., Clysters, K., Comi, G., Cossburn, M., Cournu-Rebeix, I., Cox, M. B., Cozen, W., Cree, B. A. C., Cross, A. H., Cusi, D., Daly, M. J., Davis, E., de Bakker, P. I. W., Debouverie, M., D'hooghe, M. B., Dixon, K., Dobosi, R., Dubois, B., Ellinghaus, D., Elovaara, I., Esposito, F., Fontenille, C., Foote, S., Franke, A., Galimberti, D., Ghezzi, A., Glessner, J., Gomez, R., Gout, O., Graham, C., Grant, S. F. A., Guerini, F. R., Hakonarson, H., Hall, P., Hamsten, A., Hartung, H. P., Heard, R. N., Heath, S., Hobart, J., Hoshi, M., Infante-Duarte, C., Ingram, G., Ingram, W., Islam, T., Jagodic, M., Kabesch, M., Kermode, A. G., Kilpatrick, T. J., Kim, C., Klopp, N., Koivisto, K., Larsson, M., Lathrop, M., Lechner-Scott, J. S., Leone, M. A., Leppä, V., Liljedahl, U., Bomfim, I. L., Lincoln, R. R., Link, J., Liu, J., Lorentzen, Å. R., Lupoli, S., Macciardi, F., Mack, T., Marriott, M., Martinelli, V., Mason, D., McCauley, J. L., Mentch, F., Mero, I. L., Mihalova, T., Montalban, X., Mottershead, J., Myhr, K. M., Naldi, P., Ollier, W., Page, A., Palotie, A., Pelletier, J., Piccio, L., Pickersgill, T., Piehl, F., Pobywajlo, S., Quach, H. L., Ramsay, P. P., Reunanen, M., Reynolds, R., Rioux, J. D., Rodegher, M., Roesner, S., Rubio, J. P., Rückert, I. M., Salvi, E., Santaniello, A., Schaefer, C. A., Schreiber, S., Schulze, C., Scott, R. J., Sellebjerg, F., Selmaj, K. W., Sexton, D., Shen, L., Simms-Acuna, B., Skidmore, S., Sleiman, P. M. A., Smestad, C., Sørensen, P. S., Søndergaard, H. B., Stankovich, J., Strange, R. C., Sulonen, A. M., Sundqvist, E., Syvänen, A. C., Taddeo, F., Taylor, B., Blackwell, J. M., Tienari, P., Bramon, E., Tourbah, A., Brown, M. A., Tronczynska, E., Casas, J. P., Tubridy, N., Corvin, A., Vickery, J., Jankowski, J., Villoslada, P., Markus, H. S., Wang, K., Mathew, C. G., Wason, J., Palmer, C. N. A., Wichmann, H. E., Plomin, R., Willoughby, E., Rautanen, A., Winkelmann, J., Wittig, M., Trembath, R. C., Yaouanq, J., Viswanathan, A. C., Zhang, H., Wood, N. W., Zuvich, R., Deloukas, P., Langford, C., Duncanson, A., Oksenberg, J. R., Pericak-Vance, M. A., Haines, J. L., Olsson, T., Hillert, J., Ivinson, A. J., De Jager, P. L., Peltonen, L., Stewart, G. J., Hafler, D. A., Hauser, S. L., McVean, G., Donnelly, P. & Compston, A., 16 May 2013, In: PLoS ONE. 8, 5, e63300.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    30 Scopus citations

  • Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis

    Beecham, A. H., Patsopoulos, N. A., Xifara, D. K., Davis, M. F., Kemppinen, A., Cotsapas, C., Shah, T. S., Spencer, C., Booth, D., Goris, A., Oturai, A., Saarela, J., Fontaine, B., Hemmer, B., Martin, C., Zipp, F., D'Alfonso, S., Martinelli-Boneschi, F., Taylor, B. & Harbo, H. F. & 173 others, Kockum, I., Hillert, J., Olsson, T., Ban, M., Oksenberg, J. R., Hintzen, R., Barcellos, L. F., Agliardi, C., Alfredsson, L., Alizadeh, M., Anderson, C., Andrews, R., Søndergaard, H. B., Baker, A., Band, G., Baranzini, S. E., Barizzone, N., Barrett, J., Bellenguez, C., Bergamaschi, L., Bernardinelli, L., Berthele, A., Biberacher, V., Binder, T. M. C., Blackburn, H., Bomfim, I. L., Brambilla, P., Broadley, S., Brochet, B., Brundin, L., Buck, D., Butzkueven, H., Caillier, S. J., Camu, W., Carpentier, W., Cavalla, P., Celius, E. G., Coman, I., Comi, G., Corrado, L., Cosemans, L., Cournu-Rebeix, I., Cree, B. A. C., Cusi, D., Damotte, V., Defer, G., Delgado, S. R., Deloukas, P., Di Sapio, A., Dilthey, A. T., Donnelly, P., Dubois, B., Duddy, M., Edkins, S., Elovaara, I., Esposito, F., Evangelou, N., Fiddes, B., Field, J., Franke, A., Freeman, C., Frohlich, I. Y., Galimberti, D., Gieger, C., Gourraud, P. A., Graetz, C., Graham, A., Grummel, V., Guaschino, C., Hadjixenofontos, A., Hakonarson, H., Halfpenny, C., Hall, G., Hall, P., Hamsten, A., Harley, J., Harrower, T., Hawkins, C., Hellenthal, G., Hillier, C., Hobart, J., Hoshi, M., Hunt, S. E., Jagodic, M., Jelcic, I., Jochim, A., Kendall, B., Kermode, A., Kilpatrick, T., Koivisto, K., Konidari, I., Korn, T., Kronsbein, H., Langford, C., Larsson, M., Lathrop, M., Lebrun-Frenay, C., Lechner-Scott, J., Lee, M. H., Leone, M. A., Leppä, V., Liberatore, G., Lie, B. A., Lill, C. M., Lindén, M., Link, J., Luessi, F., Lycke, J., Macciardi, F., Männistö, S., Manrique, C. P., Martin, R., Martinelli, V., Mason, D., Mazibrada, G., McCabe, C., Mero, I. L., Mescheriakova, J., Moutsianas, L., Myhr, K. M., Nagels, G., Nicholas, R., Nilsson, P., Piehl, F., Pirinen, M., Price, S. E., Quach, H., Reunanen, M., Robberecht, W., Robertson, N. P., Rodegher, M., Rog, D., Salvetti, M., Schnetz-Boutaud, N. C., Sellebjerg, F., Selter, R. C., Schaefer, C., Shaunak, S., Shen, L., Shields, S., Siffrin, V., Slee, M., Sorensen, P. S., Sorosina, M., Sospedra, M., Spurkland, A., Strange, A., Sundqvist, E., Thijs, V., Thorpe, J., Ticca, A., Tienari, P., Van Duijn, C., Visser, E. M., Vucic, S., Westerlind, H., Wiley, J. S., Wilkins, A., Wilson, J. F., Winkelmann, J., Zajicek, J., Zindler, E., Haines, J. L., Pericak-Vance, M. A., Ivinson, A. J., Stewart, G., Hafler, D., Hauser, S. L., Compston, A., McVean, G., De Jager, P., Sawcer, S. J. & McCauley, J. L., Nov 2013, In: Nature Genetics. 45, 11, p. 1353-1362 10 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    1100 Scopus citations

  • 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, M. A., Skieceviciene, J., Doncheva, N. T., Liu, X., Liu, Q., Jiang, F., Forster, M., Mayr, G., Albrecht, M. & Häsler, R. & 41 others, Boehm, B. O., Goodall, J., Berzuini, C. R., Lee, J., Andersen, V., Vogel, U., Kupcinskas, L., Kayser, M., Krawczak, M., Nikolaus, S., Weersma, R. K., Ponsioen, C. Y., Sans, M., Wijmenga, C., Strachan, D. P., McArdle, W. L., Vermeire, S., Rutgeerts, P., Sanderson, J. D., Mathew, C. G., Vatn, M. H., Wang, J., Nöthen, M. M., Duerr, R. H., Büning, C., Brand, S., Glas, J., Winkelmann, J., Illig, T., Latiano, A., Annese, V., Halfvarson, J., D'Amato, M., Daly, M. J., Nothnagel, M., Karlsen, T. H., Subramani, S., Rosenstiel, P., Schreiber, S., Parkes, M. & Franke, A., Aug 2013, In: Gastroenterology. 145, 2, p. 339-347 9 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    128 Scopus citations

  • Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis

    Liu, J. Z., Hov, J. R., Folseraas, T., Ellinghaus, E., Rushbrook, S. M., Doncheva, N. T., Andreassen, O. A., Weersma, R. K., Weismüller, T. J., Eksteen, B., Invernizzi, P., Hirschfield, G. M., Gotthardt, D. N., Pares, A., Ellinghaus, D., Shah, T., Juran, B. D., Milkiewicz, P., Rust, C. & Schramm, C. & 64 others, Muler, T., Srivastava, B., Dalekos, G., Nöthen, M. M., Herms, S., Winkelmann, J., Mitrovic, M., Braun, F., Ponsioen, C. Y., Croucher, P. J. P., Sterneck, M., Teufel, A., Andrew L Mason, L. M., Saarela, J., Leppa, V., Dorfman, R., Alvaro, D., Floreani, A., Onengut-Gumuscu, S., Rich, S. S., Thompson, W. K., Schork, A. J., Næss, S., Thomsen, I., Mayr, G., König, I. R., Hveem, K., Cleynen, I., Gutierrez-Achury, J., Ricaño-Ponce, I., Van Heel, D., Björnsson, E., Sandford, R. N., Durie, P. R., Melum, E., Vatn, M. H., Silverberg, M. S., Duerr, R. H., Padyukov, L., Brand, S., Sans, M., Annese, V., Achkar, J. P., Boberg, K. M., Marschall, H. U., Chazouillères, O., Bowlus, C. L., Wijmenga, C., Schrumpf, E., Vermeire, S., Albrecht, M., Rioux, J. D., Alexander, G., Bergquist, A., Cho, J., Schreiber, S., Manns, M. P., Färkkilä, M., Dale, A. M., Chapman, R. W., Konstantinos N Lazaridis, N. L., Franke, A., Anderson, C. A. & Karlsen, T. H., Jun 2013, In: Nature Genetics. 45, 6, p. 670-675 6 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    332 Scopus citations

  • Dilution of candidates: The case of iron-related genes in restless legs syndrome

    Oexle, K., Schormair, B., Ried, J. S., Czamara, D., Heim, K., Frauscher, B., Högl, B., Trenkwalder, C., Martin Fiedler, G., Thiery, J., Lichtner, P., Prokisch, H., Specht, M., Müller-Myhsok, B., Döring, A., Gieger, C., Peters, A., Wichmann, H. E., Meitinger, T. & Winkelmann, J., Apr 2013, In: European Journal of Human Genetics. 21, 4, p. 410-414 5 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    24 Scopus citations

  • Familial and Genetic Factors of Restless Legs Syndrome

    Winkelmann, J., 1 Jan 2013, Encyclopedia of Sleep. Elsevier, p. V4-22-V4-28

    Research output: Chapter in Book/Report/Conference proceeding › Chapter › peer-review

  • Familial and Genetic Factors of Restless Legs Syndrome

    Winkelmann, J., 1 Jan 2013, Encyclopedia of Sleep. Elsevier Inc., p. 22-28 7 p.

    Research output: Chapter in Book/Report/Conference proceeding › Chapter › peer-review

  • Genetic variants in the immunoglobulin heavy chain locus are associated with the IgG index in multiple sclerosis

    Buck, D., Albrecht, E., Aslam, M., Goris, A., Hauenstein, N., Jochim, A., Cepok, S., Grummel, V., Dubois, B., Berthele, A., Lichtner, P., Gieger, C., Winkelmann, J. & Hemmer, B., Jan 2013, In: Annals of Neurology. 73, 1, p. 86-94 9 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    38 Scopus citations

  • High-density genotyping study identifies four new susceptibility loci for atopic dermatitis

    Ellinghaus, D., Baurecht, H., Esparza-Gordillo, J., Rodríguez, E., Matanovic, A., Marenholz, I., Hübner, N., Schaarschmidt, H., Novak, N., Michel, S., Maintz, L., Werfel, T., Meyer-Hoffert, U., Hotze, M., Prokisch, H., Heim, K., Herder, C., Hirota, T., Tamari, M. & Kubo, M. & 29 others, Takahashi, A., Nakamura, Y., Tsoi, L. C., Stuart, P., Elder, J. T., Sun, L., Zuo, X., Yang, S., Zhang, X., Hoffmann, P., Nöthen, M. M., Fölster-Holst, R., Winkelmann, J., Illig, T., Boehm, B. O., Duerr, R. H., Büning, C., Brand, S., Glas, J., McAleer, M. A., Fahy, C. M., Kabesch, M., Brown, S., McLean, W. H. I., Irvine, A. D., Schreiber, S., Lee, Y. A., Franke, A. & Weidinger, S., Jul 2013, In: Nature Genetics. 45, 7, p. 808-812 5 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    161 Scopus citations

  • ImmunoChip Study Implicates Antigen Presentation to T Cells in Narcolepsy

    Faraco, J., Lin, L., Kornum, B. R., Kenny, E. E., Trynka, G., Einen, M., Rico, T. J., Lichtner, P., Dauvilliers, Y., Arnulf, I., Lecendreux, M., Javidi, S., Geisler, P., Mayer, G., Pizza, F., Poli, F., Plazzi, G., Overeem, S., Lammers, G. J. & Kemlink, D. & 28 others, Sonka, K., Nevsimalova, S., Rouleau, G., Desautels, A., Montplaisir, J., Frauscher, B., Ehrmann, L., Högl, B., Jennum, P., Bourgin, P., Peraita-Adrados, R., Iranzo, A., Bassetti, C., Chen, W. M., Concannon, P., Thompson, S. D., Damotte, V., Fontaine, B., Breban, M., Gieger, C., Klopp, N., Deloukas, P., Wijmenga, C., Hallmayer, J., Onengut-Gumuscu, S., Rich, S. S., Winkelmann, J. & Mignot, E., Feb 2013, In: PLoS Genetics. 9, 2, e1003270.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    186 Scopus citations