Chair of Neurogenetics (2015 — 2023)

Filter
Article

Search results

  • 2018

    IBD risk loci are enriched in multigenic regulatory modules encompassing putative causative genes

    The International IBD Genetics Consortium, 1 Dec 2018, In: Nature Communications. 9, 1, 2427.

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

    Open Access
    142 Scopus citations

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

    International IBD Genetics Consortium, NIDDK IBD Genetics Consortium & T2D-GENES Consortium, May 2018, In: PLoS Genetics. 14, 5, e1007329.

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

    Open Access
    52 Scopus citations

  • KMT2B Is Selectively Required for Neuronal Transdifferentiation, and Its Loss Exposes Dystonia Candidate Genes

    Barbagiovanni, G., Germain, P. L., Zech, M., Atashpaz, S., Lo Riso, P., D'Antonio-Chronowska, A., Tenderini, E., Caiazzo, M., Boesch, S., Jech, R., Haslinger, B., Broccoli, V., Stewart, A. F., Winkelmann, J. & Testa, G., 23 Oct 2018, In: Cell Reports. 25, 4, p. 988-1001 14 p.

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

    Open Access
    28 Scopus citations

  • Microstructural white matter abnormalities in patients with COL6A3 mutations (DYT27 dystonia)

    Jochim, A., Li, Y., Zech, M., Lam, D., Gross, N., Koch, K., Zimmer, C., Winkelmann, J. & Haslinger, B., Jan 2018, In: Parkinsonism and Related Disorders. 46, p. 74-78 5 p.

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

    11 Scopus citations

  • Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study

    Pottier, C., Zhou, X., Perkerson, R. B., Baker, M., Jenkins, G. D., Serie, D. J., Ghidoni, R., Benussi, L., Binetti, G., López de Munain, A., Zulaica, M., Moreno, F., Le Ber, I., Pasquier, F., Hannequin, D., Sánchez-Valle, R., Antonell, A., Lladó, A., Parsons, T. M. & Finch, N. C. A. & 113 others, Finger, E. C., Lippa, C. F., Huey, E. D., Neumann, M., Heutink, P., Synofzik, M., Wilke, C., Rissman, R. A., Slawek, J., Sitek, E., Johannsen, P., Nielsen, J. E., Ren, Y., van Blitterswijk, M., DeJesus-Hernandez, M., Christopher, E., Murray, M. E., Bieniek, K. F., Evers, B. M., Ferrari, C., Rollinson, S., Richardson, A., Scarpini, E., Fumagalli, G. G., Padovani, A., Hardy, J., Momeni, P., Ferrari, R., Frangipane, F., Maletta, R., Anfossi, M., Gallo, M., Petrucelli, L., Suh, E. R., Lopez, O. L., Wong, T. H., van Rooij, J. G. J., Seelaar, H., Mead, S., Caselli, R. J., Reiman, E. M., Noel Sabbagh, M., Kjolby, M., Nykjaer, A., Karydas, A. M., Boxer, A. L., Grinberg, L. T., Grafman, J., Spina, S., Oblak, A., Mesulam, M. M., Weintraub, S., Geula, C., Hodges, J. R., Piguet, O., Brooks, W. S., Irwin, D. J., Trojanowski, J. Q., Lee, E. B., Josephs, K. A., Parisi, J. E., Ertekin-Taner, N., Knopman, D. S., Nacmias, B., Piaceri, I., Bagnoli, S., Sorbi, S., Gearing, M., Glass, J., Beach, T. G., Black, S. E., Masellis, M., Rogaeva, E., Vonsattel, J. P., Honig, L. S., Kofler, J., Bruni, A. C., Snowden, J., Mann, D., Pickering-Brown, S., Diehl-Schmid, J., Winkelmann, J., Galimberti, D., Graff, C., Öijerstedt, L., Troakes, C., Al-Sarraj, S., Cruchaga, C., Cairns, N. J., Rohrer, J. D., Halliday, G. M., Kwok, J. B., van Swieten, J. C., White, C. L., Ghetti, B., Murell, J. R., Mackenzie, I. R. A., Hsiung, G. Y. R., Borroni, B., Rossi, G., Tagliavini, F., Wszolek, Z. K., Petersen, R. C., Bigio, E. H., Grossman, M., Van Deerlin, V. M., Seeley, W. W., Miller, B. L., Graff-Radford, N. R., Boeve, B. F., Dickson, D. W., Biernacka, J. M. & Rademakers, R., Jun 2018, In: The Lancet Neurology. 17, 6, p. 548-558 11 p.

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

    Open Access
    93 Scopus citations
  • 2017

    Genome-wide association analysis of insomnia complaints identifies risk genes and genetic overlap with psychiatric and metabolic traits

    Hammerschlag, A. R., Stringer, S., De Leeuw, C. A., Sniekers, S., Taskesen, E., Watanabe, K., Blanken, T. F., Dekker, K., Te Lindert, B. H. W., Wassing, R., Jonsdottir, I., Thorleifsson, G., Stefansson, H., Gislason, T., Berger, K., Schormair, B., Wellmann, J., Winkelmann, J., Stefansson, K. & Oexle, K. & 2 others, Van Someren, E. J. W. & Posthuma, D., 1 Nov 2017, In: Nature Genetics. 49, 11, p. 1584-1592 9 p.

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

    Open Access
    194 Scopus citations

  • Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

    TRACK-HD investigators & REGISTRY investigators, Sep 2017, In: The Lancet Neurology. 16, 9, p. 701-711 11 p.

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

    Open Access
    220 Scopus citations

  • Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis

    23andMe Research Team, DESIR study group, 23andMe Research Team, DESIR study group, DESIR study group & DESIR study group, Nov 2017, In: The Lancet Neurology. 16, 11, p. 898-907 10 p.

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

    Open Access
    186 Scopus citations

  • Immune-Array Analysis in Sporadic Inclusion Body Myositis Reveals HLA–DRB1 Amino Acid Heterogeneity Across the Myositis Spectrum

    for the Myositis Genetics Consortium, May 2017, In: Arthritis and Rheumatology. 69, 5, p. 1090-1099 10 p.

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

    Open Access
    46 Scopus citations

  • KMT2B rare missense variants in generalized dystonia

    Zech, M., Jech, R., Havránková, P., Fečíková, A., Berutti, R., Urgošík, D., Kemlink, D., Strom, T. M., Roth, J., Růžička, E. & Winkelmann, J., Jul 2017, In: Movement Disorders. 32, 7, p. 1087-1091 5 p.

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

    37 Scopus citations

  • Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing

    Zech, M., Jech, R., Wagner, M., Mantel, T., Boesch, S., Nocker, M., Jochim, A., Berutti, R., Havránková, P., Fečíková, A., Kemlink, D., Roth, J., Strom, T. M., Poewe, W., Růžička, E., Haslinger, B. & Winkelmann, J., 1 Dec 2017, In: Neurogenetics. 18, 4, p. 195-205 11 p.

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

    36 Scopus citations

  • Neuropeptide S receptor gene variation differentially modulates fronto-limbic effective connectivity in childhood and adolescence

    Domschke, K., Akhrif, A., Romanos, M., Bajer, C., Mainusch, M., Winkelmann, J., Zimmer, C. & Neufang, S., 2017, In: Cerebral Cortex. 27, 1, p. 554-566 13 p.

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

    12 Scopus citations
  • 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

  • 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
    130 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
  • 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
    268 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
    252 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
  • 2014

    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

    39 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
    60 Scopus citations

  • 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
    530 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

  • 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

    43 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

  • 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
    1095 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

  • 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
    37 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
    157 Scopus citations

  • Niemann-pick C disease gene mutations and age-related neurodegenerative disorders

    Zech, M., Nübling, G., Castrop, F., Jochim, A., Schulte, E. C., Mollenhauer, B., Lichtner, P., Peters, A., Gieger, C., Marquardt, T., Vanier, M. T., Latour, P., Klünemann, H., Trenkwalder, C., Diehl-Schmid, J., Perneczky, R., Meitinger, T., Oexle, K., Haslinger, B. & Lorenzl, S. & 1 others, Winkelmann, J., 30 Dec 2013, In: PLoS ONE. 8, 12, e82879.

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

    Open Access
    48 Scopus citations

  • Rare variants in PLXNA4 and Parkinson's disease

    Schulte, E. C., Stahl, I., Czamara, D., Ellwanger, D. C., Eck, S., Graf, E., Mollenhauer, B., Zimprich, A., Lichtner, P., Haubenberger, D., Pirker, W., Brücke, T., Bereznai, B., Molnar, M. J., Peters, A., Gieger, C., Müller-Myhsok, B., Trenkwalder, C. & Winkelmann, J., 11 Nov 2013, In: PLoS ONE. 8, 11, e79145.

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

    Open Access
    15 Scopus citations

  • Suicidal ideation in a European Huntington's disease population

    The REGISTRY investigators of the European Huntington's Disease Network, 1 Oct 2013, In: Journal of Affective Disorders. 151, 1, p. 248-258 11 p.

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

    Open Access
    64 Scopus citations

  • When restless legs syndrome turns malignant.

    Schulte, E. C., Gross, N., Slawik, H. & Winkelmann, J., Jun 2013, In: Sleep Medicine. 14, 6, p. 575-577 3 p.

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

    8 Scopus citations
  • 2012

    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease

    Jostins, L., Ripke, S., Weersma, R. K., Duerr, R. H., McGovern, D. P., Hui, K. Y., Lee, J. C., Schumm, L. P., Sharma, Y., Anderson, C. A., Essers, J., Mitrovic, M., Ning, K., Cleynen, I., Theatre, E., Spain, S. L., Raychaudhuri, S., Goyette, P., Wei, Z. & Abraham, C. & 86 others, Achkar, J. P., Ahmad, T., Amininejad, L., Ananthakrishnan, A. N., Andersen, V., Andrews, J. M., Baidoo, L., Balschun, T., Bampton, P. A., Bitton, A., Boucher, G., Brand, S., Büning, C., Cohain, A., Cichon, S., D’amato, M., Jong, D. D., Devaney, K. L., Dubinsky, M., Edwards, C., Ellinghaus, D., Ferguson, L. R., Franchimont, D., Fransen, K., Gearry, R., Georges, M., Gieger, C., Glas, J., Haritunians, T., Hart, A., Hawkey, C., Hedl, M., Hu, X., Karlsen, T. H., Kupcinskas, L., Kugathasan, S., Latiano, A., Laukens, D., Lawrance, I. C., Lees, C. W., Louis, E., Mahy, G., Mansfield, J., Morgan, A. R., Mowat, C., Newman, W., Palmieri, O., Ponsioen, C. Y., Potocnik, U., Prescott, N. J., Regueiro, M., Rotter, J. I., Russell, R. K., Sanderson, J. D., Sans, M., Satsangi, J., Schreiber, S., Simms, L. A., Sventoraityte, J., Targan, S. R., Taylor, K. D., Tremelling, M., Verspaget, H. W., Vos, M. D., Wijmenga, C., Wilson, D. C., Winkelmann, J., Xavier, R. J., Zeissig, S., Zhang, B., Zhang, C. K., Zhao, H., Silverberg, M. S., Annese, V., Hakonarson, H., Brant, S. R., Radford-Smith, G., Mathew, C. G., Rioux, J. D., Schadt, E. E., Daly, M. J., Franke, A., Parkes, M., Vermeire, S., Barrett, J. C. & Cho, J. H., 1 Nov 2012, In: Nature. 491, 7422, p. 119-124 6 p.

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

    Open Access
    3729 Scopus citations

  • Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity

    Tsoi, L. C., Spain, S. L., Knight, J., Ellinghaus, E., Stuart, P. E., Capon, F., Ding, J., Li, Y., Tejasvi, T., Gudjonsson, J. E., Kang, H. M., Allen, M. H., McManus, R., Novelli, G., Samuelsson, L., Schalkwijk, J., Ståhle, M., Burden, A. D., Smith, C. H. & Cork, M. J. & 180 others, Estivill, X., Bowcock, A. M., Krueger, G. G., Weger, W., Worthington, J., Tazi-Ahnini, R., Nestle, F. O., Hayday, A., Hoffmann, P., Winkelmann, J., Wijmenga, C., Langford, C., Edkins, S., Andrews, R., Blackburn, H., Strange, A., Band, G., Pearson, R. D., Vukcevic, D., Spencer, C. C. A., Deloukas, P., Mrowietz, U., Schreiber, S., Weidinger, S., Koks, S., Kingo, K., Esko, T., Metspalu, A., Lim, H. W., Voorhees, J. J., Weichenthal, M., Wichmann, H. E., Chandran, V., Rosen, C. F., Rahman, P., Gladman, D. D., Griffiths, C. E. M., Reis, A., Kere, J., Nnair, R. P., Franke, A., Barker, J. N., Abecasis, G. R., Eelder, J. T., Ttrembath, R., Duffin, K. C., Helms, C., Goldgar, D., Paschall, J., Malloy, M. J., Pullinger, C. R., Kane, J. P., Gardner, J., Perlmutter, A., Miner, A., Feng, B. J., Hiremagalore, R., Ike, R. W., Christophers, E., Henseler, T., Ruether, A., Schrodi, S. J., Prahalad, S., Guthery, S. L., Fischer, J., Liao, W., Kwok, P., Menter, A., Lathrop, G. M., Wise, C., Begovich, A. B., Onoufriadis, A., Weale, M. E., Hofer, A., Salmhofer, W., Wolf, P., Kainu, K., Saarialho-Kere, U., Suomela, S., Badorf, P., Hüffmeier, U., Kurrat, W., Küster, W., Lascorz, J., Mössner, R., Schürmeier-Horst, F., Ständer, M., Traupe, H., Bergboer, J. G. M., Heijer, M. D., Van De Kerkhof, P. C., Zeeuwen, P. L. J. M., Barnes, L., Campbell, L. E., Cusack, C., Coleman, C., Conroy, J., Ennis, S., Fitzgerald, O., Gallagher, P., Irvine, A. D., Kirby, B., Markham, T., McLean, W. H. I., McPartlin, J., Rogers, S. F., Ryan, A. W., Zawirska, A., Giardina, E., Lepre, T., Perricone, C., Martín-Ezquerra, G., Pujol, R. M., Riveira-Munoz, E., Inerot, A., Naluai, Å. T., Mallbris, L., Wolk, K., Leman, J., Barton, A., Warren, R. B., Young, H. S., Ricano-Ponce, I., Trynka, G., Pellett, F. J., Henschel, A., Aurand, M., Bebo, B., Gieger, C., Illig, T., Moebus, S., Jöckel, K. H., Erbel, R., Donnelly, P., Peltonen, L., Blackwell, J. M., Bramon, E., Brown, M. A., Casas, J. P., Corvin, A., Craddock, N., Duncanson, A., Jankowski, J., Markus, H. S., Mathew, C. G., McCarthy, M. I., Palmer, C. N. A., Plomin, R., Rautanen, A., Sawcer, S. J., Samani, N., Viswanathan, A. C., Wood, N. W., Bellenguez, C., Freeman, C., Hellenthal, G., Giannoulatou, E., Pirinen, M., Su, Z., Hunt, S. E., Gwilliam, R., Bumpstead, S. J., Dronov, S., Gillman, M., Gray, E., Hammond, N., Jayakumar, A., McCann, O. T., Liddle, J., Perez, M. L., Potter, S. C., Ravindrarajah, R., Ricketts, M., Waller, M., Weston, P., Widaa, S., Whittaker, P., Neir, R. P., Elder, J. T. & Trembath, R. C., 1 Dec 2012, In: Nature Genetics. 44, 12, p. 1341-1348 8 p.

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

    Open Access
    807 Scopus citations

  • Network-based SNP meta-analysis identifies joint and disjoint genetic features across common human diseases

    Arnold, M., Hartsperger, M. L., Baurecht, H., Rodríguez, E., Wachinger, B., Franke, A., Kabesch, M., Winkelmann, J., Pfeufer, A., Romanos, M., Illig, T., Mewes, H. W., Stümpflen, V. & Weidinger, S., 18 Sep 2012, In: BMC Genomics. 13, 1, 490.

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

    Open Access
    2 Scopus citations

  • PSEA: Phenotype Set Enrichment Analysis--a new method for analysis of multiple phenotypes.

    Ried, J. S., Döring, A., Oexle, K., Meisinger, C., Winkelmann, J., Klopp, N., Meitinger, T., Peters, A., Suhre, K., Wichmann, H. E. & Gieger, C., Apr 2012, In: Genetic epidemiology. 36, 3, p. 244-252 9 p.

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

    17 Scopus citations

  • Restless legs syndrome in Czech patients with multiple sclerosis: An epidemiological and genetic study

    Vávrová, J., Kemlink, D., Šonka, K., Havrdová, E., Horáková, D., Pardini, B., Müller-Myhsok, B. & Winkelmann, J., Aug 2012, In: Sleep Medicine. 13, 7, p. 848-851 4 p.

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

    36 Scopus citations

  • Variants in eukaryotic translation initiation factor 4G1 in sporadic Parkinson's disease

    Schulte, E. C., Mollenhauer, B., Zimprich, A., Bereznai, B., Lichtner, P., Haubenberger, D., Pirker, W., Brücke, T., Molnar, M. J., Peters, A., Gieger, C., Trenkwalder, C. & Winkelmann, J., Aug 2012, In: Neurogenetics. 13, 3, p. 281-285 5 p.

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

    26 Scopus citations

  • Variation within the Huntington's disease gene influences normal brain structure

    Mühlau, M., Winkelmann, J., Rujescu, D., Giegling, I., Koutsouleris, N., Gaser, C., Arsic, M., Weindl, A., Reiser, M. & Meisenzahl, E. M., 3 Jan 2012, In: PLoS ONE. 7, 1, e29809.

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

    Open Access
    31 Scopus citations
  • 2011

    Absence of an orphan mitochondrial protein, C19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation

    Hartig, M. B., Iuso, A., Haack, T., Kmiec, T., Jurkiewicz, E., Heim, K., Roeber, S., Tarabin, V., Dusi, S., Krajewska-Walasek, M., Jozwiak, S., Hempel, M., Winkelmann, J., Elstner, M., Oexle, K., Klopstock, T., Mueller-Felber, W., Gasser, T., Trenkwalder, C. & Tiranti, V. & 5 others, Kretzschmar, H., Schmitz, G., Strom, T. M., Meitinger, T. & Prokisch, H., 7 Oct 2011, In: American Journal of Human Genetics. 89, 4, p. 543-550 8 p.

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

    Open Access
    222 Scopus citations

  • A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset parkinson disease

    Zimprich, A., Benet-Pagès, A., Struhal, W., Graf, E., Eck, S. H., Offman, M. N., Haubenberger, D., Spielberger, S., Schulte, E. C., Lichtner, P., Rossle, S. C., Klopp, N., Wolf, E., Seppi, K., Pirker, W., Presslauer, S., Mollenhauer, B., Katzenschlager, R., Foki, T. & Hotzy, C. & 14 others, Reinthaler, E., Harutyunyan, A., Kralovics, R., Peters, A., Zimprich, F., Brücke, T., Poewe, W., Auff, E., Trenkwalder, C., Rost, B., Ransmayr, G., Winkelmann, J., Meitinger, T. & Strom, T. M., 15 Jul 2011, In: American Journal of Human Genetics. 89, 1, p. 168-175 8 p.

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

    Open Access
    704 Scopus citations

  • Common variants in P2RY11 are associated with narcolepsy

    Kornum, B. R., Kawashima, M., Faraco, J., Lin, L., Rico, T. J., Hesselson, S., Axtell, R. C., Kuipers, H., Weiner, K., Hamacher, A., Kassack, M. U., Han, F., Knudsen, S., Li, J., Dong, X., Winkelmann, J., Plazzi, G., Nevsimalova, S., Hong, S. C. & Honda, Y. & 40 others, Honda, M., Högl, B., Ton, T. G. N., Montplaisir, J., Bourgin, P., Kemlink, D., Huang, Y. S., Warby, S., Einen, M., Eshragh, J. L., Miyagawa, T., Desautels, A., Ruppert, E., Hesla, P. E., Poli, F., Pizza, F., Frauscher, B., Jeong, J. H., Lee, S. P., Strohl, K. P., Longstreth, W. T., Kvale, M., Dobrovolna, M., Ohayon, M. M., Nepom, G. T., Wichmann, H. E., Rouleau, G. A., Gieger, C., Levinson, D. F., Gejman, P. V., Meitinger, T., Peppard, P., Young, T., Jennum, P., Steinman, L., Tokunaga, K., Kwok, P. Y., Risch, N., Hallmayer, J. & Mignot, E., Jan 2011, In: Nature Genetics. 43, 1, p. 66-71 6 p.

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

    Open Access
    188 Scopus citations

  • Genome-Wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1

    Winkelmann, J., Czamara, D., Schormair, B., Knauf, F., Schulte, E. C., Trenkwalder, C., Dauvilliers, Y., Polo, O., Högl, B., Berger, K., Fuhs, A., Gross, N., Stiasny-Kolster, K., Oertel, W., Bachmann, C. G., Paulus, W., Xiong, L., Montplaisir, J., Rouleau, G. A. & Fietze, I. & 37 others, Vávrová, J., Kemlink, D., Sonka, K., Nevsimalova, S., Lin, S. C., Wszolek, Z., Vilariño-Güell, C., Farrer, M. J., Gschliesser, V., Frauscher, B., Falkenstetter, T., Poewe, W., Allen, R. P., Earley, C. J., Ondo, W. G., Le, W. D., Spieler, D., Kaffe, M., Zimprich, A., Kettunen, J., Perola, M., Silander, K., Cournu-Rebeix, I., Francavilla, M., Fontenille, C., Fontaine, B., Vodicka, P., Prokisch, H., Lichtner, P., Peppard, P., Faraco, J., Mignot, E., Gieger, C., Illig, T., Wichmann, H. E., Müller-Myhsok, B. & Meitinger, T., Jul 2011, In: PLoS Genetics. 7, 7, e1002171.

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

    Open Access
    153 Scopus citations

  • MEIS1 and BTBD9: Genetic association with restless leg syndrome in end stage renal disease

    Schormair, B., Plag, J., Kaffe, M., Groß, N., Czamara, D., Samtleben, W., Lichtner, P., Ströhle, A., Stefanidis, I., Vainas, A., Dardiotis, E., Sakkas, G. K., Gieger, C., Müller-Myhsok, B., Meitinger, T., Heemann, U., Hadjigeorgiou, G. M., Oexle, K. & Winkelmann, J., Jul 2011, In: Journal of Medical Genetics. 48, 7, p. 462-466 5 p.

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

    Open Access
    54 Scopus citations

  • Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels

    Oexle, K., Ried, J. S., Hicks, A. A., Tanaka, T., Hayward, C., Bruegel, M., Gögele, M., Lichtner, P., Müller-Myhsok, B., Döring, A., Illig, T., Schwienbacher, C., Minelli, C., Pichler, I., Fiedler, G. M., Thiery, J., Rudan, I., Wright, A. F., Campbell, H. & Ferrucci, L. & 6 others, Bandinelli, S., Pramstaller, P. P., Wichmann, H. E., Gieger, C., Winkelmann, J. & Meitinger, T., Mar 2011, In: Human Molecular Genetics. 20, 5, p. 1042-1047 6 p.

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

    Open Access
    60 Scopus citations