List of Publications

Franz Rüschendorf



View abstracts via PubMed


2019

  • Eleven loci with new reproducible genetic associations with allergic disease risk.
    Ferreira MAR, Vonk JM, Baurecht H, Marenholz I, Tian C, Hoffman JD, Helmer Q, Tillander A, Ullemar V, Lu Y, Rüschendorf F; 23andMe Research Team; collaborators of the SHARE study, Hinds DA, Hübner N, Weidinger S, Magnusson PKE, Jorgenson E, Lee YA, Boomsma DI, Karlsson R, Almqvist C, Koppelman GH, Paternoster L.
    J Allergy Clin Immunol. 2019 Feb;143(2):691-699. doi: 10.1016/j.jaci.2018.03.012. Epub 2018 Apr 19.


    2018

  • Genome-wide association and HLA fine-mapping studies identify risk loci and genetic pathways underlying allergic rhinitis.
    Waage J, Standl M, Curtin JA, Jessen LE, Thorsen J, Tian C, Schoettler N; 23andMe Research Team; AAGC collaborators, Flores C, Abdellaoui A, Ahluwalia TS, Alves AC, Amaral AFS, Antó JM, Arnold A, Barreto-Luis A, Baurecht H, van Beijsterveldt CEM, Bleecker ER, Bonàs-Guarch S, Boomsma DI, Brix S, Bunyavanich S, Burchard EG, Chen Z, Curjuric I, Custovic A, den Dekker HT, Dharmage SC, Dmitrieva J, Duijts L, Ege MJ, Gauderman WJ, Georges M, Gieger C, Gilliland F, Granell R, Gui H, Hansen T, Heinrich J, Henderson J, Hernandez-Pacheco N, Holt P, Imboden M, Jaddoe VWV, Jarvelin MR, Jarvis DL, Jensen KK, Jónsdóttir I, Kabesch M, Kaprio J, Kumar A, Lee YA, Levin AM, Li X, Lorenzo-Diaz F, Melén E, Mercader JM, Meyers DA, Myers R, Nicolae DL, Nohr EA, Palviainen T, Paternoster L, Pennell CE, Pershagen G, Pino-Yanes M, Probst-Hensch NM, Rüschendorf F, Simpson A, Stefansson K, Sunyer J, Sveinbjornsson G, Thiering E, Thompson PJ, Torrent M, Torrents D, Tung JY, Wang CA, Weidinger S, Weiss S, Willemsen G, Williams LK, Ober C, Hinds DA, Ferreira MA, Bisgaard H, Strachan DP, Bønnelykke K.
    Nat Genet. 2018 Aug;50(8):1072-1080. doi: 10.1038/s41588-018-0157-1. Epub 2018 Jul 16. Erratum in: Nat Genet. 2018 Sep;50(9):1343.

  • Evaluation of food allergy candidate loci in the Genetics of Food Allergy study.
    Marenholz I, Grosche S, Rüschendorf F, Kalb B, Blumchen K, Schlags R, Harandi N, Price M, Hansen G, Seidenberg J, Yürek S, Homuth G, Schmidt CO, Nöthen MM, Hubner N, Niggemann B, Beyer K, Lee YA.
    J Allergy Clin Immunol. 2018 Jun 30. pii: S0091-6749(18)30929-1. doi: 10.1016/j.jaci.2018.06.019. [Epub ahead of print] No abstract available.

  • SMARCAD1 Haploinsufficiency Underlies Huriez Syndrome and Associated Skin Cancer Susceptibility.
    Günther C, Lee-Kirsch MA, Eckhard J, Matanovic A, Kerscher T, Rüschendorf F, Klein B, Berndt N, Zimmermann N, Flachmeier C, Thuß T, Lucas N, Marenholz I, Esparza-Gordillo J, Hübner N, Traupe H, Delaporte E, Lee YA.
    J Invest Dermatol. 2018 Jun;138(6):1428-1431. doi: 10.1016/j.jid.2018.01.015. Epub 2018 Feb 1.

  • A Canadian genome-wide association study and meta-analysis confirm HLA as a risk factor for peanut allergy independent of asthma.
    Asai Y, Eslami A, van Ginkel CD, Akhabir L, Wan M, Yin D, Ellis G, Ben-Shoshan M, Marenholz I, Martino D, Ferreira MA, Allen K, Mazer B, de Groot H, de Jong NW, Gerth van Wijk R, Dubois AEJ, Grosche S, Ashley S, Rüschendorf F, Kalb B, Beyer K, Nöthen MM, Lee YA, Chin R, Cheuk S, Hoffman J, Jorgensen E, Witte JS, Melles RB, Hong X, Wang X, Hui J, Musk AWB, Hunter M, James AL, Koppelman GH, Sandford AJ, Clarke AE, Daley D.
    J Allergy Clin Immunol. 2018 Apr;141(4):1513-1516. doi: 10.1016/j.jaci.2017.10.047. Epub 2018 Jan 8.


    2017

  • Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology.
    Ferreira MA, Vonk JM, Baurecht H, Marenholz I, Tian C, Hoffman JD, Helmer Q, Tillander A, Ullemar V, van Dongen J, Lu Y, Rüschendorf F, Esparza-Gordillo J, Medway CW, Mountjoy E, Burrows K, Hummel O, Grosche S, Brumpton BM, Witte JS, Hottenga JJ, Willemsen G, Zheng J, Rodríguez E, Hotze M, Franke A, Revez JA, Beesley J, Matheson MC, Dharmage SC, Bain LM, Fritsche LG, Gabrielsen ME, Balliu B; 23andMe Research Team; AAGC collaborators; BIOS consortium; LifeLines Cohort Study, Nielsen JB, Zhou W, Hveem K, Langhammer A, Holmen OL, Løset M, Abecasis GR, Willer CJ, Arnold A, Homuth G, Schmidt CO, Thompson PJ, Martin NG, Duffy DL, Novak N, Schulz H, Karrasch S, Gieger C, Strauch K, Melles RB, Hinds DA, Hübner N, Weidinger S, Magnusson PKE, Jansen R, Jorgenson E, Lee YA, Boomsma DI, Almqvist C, Karlsson R, Koppelman GH, Paternoster L.
    Nat Genet. 2017 Dec;49(12):1752-1757. doi: 10.1038/ng.3985. Epub 2017 Oct 30.

  • Genome-wide association study identifies the SERPINB gene cluster as a susceptibility locus for food allergy.
    Marenholz I, Grosche S, Kalb B, Rüschendorf F, Blümchen K, Schlags R, Harandi N, Price M, Hansen G, Seidenberg J, Röblitz H, Yürek S, Tschirner S, Hong X, Wang X, Homuth G, Schmidt CO, Nöthen MM, Hübner N, Niggemann B, Beyer K, Lee YA.
    Nat Commun. 2017 Oct 20;8(1):1056. doi: 10.1038/s41467-017-01220-0.

  • Natural genetic variation of the cardiac transcriptome in non-diseased donors and patients with dilated cardiomyopathy.
    Heinig M, Adriaens ME, Schafer S, van Deutekom HWM, Lodder EM, Ware JS, Schneider V, Felkin LE, Creemers EE, Meder B, Katus HA, Rühle F, Stoll M, Cambien F, Villard E, Charron P, Varro A, Bishopric NH, George AL Jr, Dos Remedios C, Moreno-Moral A, Pesce F, Bauerfeind A, Rüschendorf F, Rintisch C, Petretto E, Barton PJ, Cook SA, Pinto YM, Bezzina CR, Hubner N.
    Genome Biol. 2017 Sep 14;18(1):170. doi: 10.1186/s13059-017-1286-z.


    2016

  • Association of TMTC2 With Human Nonsyndromic Sensorineural Hearing Loss.
    Runge CL, Indap A, Zhou Y, Kent JW Jr, King E, Erbe CB, Cole R, Littrell J, Merath K, James R, Rüschendorf F, Kerschner JE, Marth G, Hübner N, Göring HH, Friedland DR, Kwok WM, Olivier M.
    JAMA Otolaryngol Head Neck Surg. 2016 Sep 1;142(9):866-72. doi: 10.1001/jamaoto.2016.1444.


    2015

  • Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis.
    Lavinia Paternoster, Marie Standl, Johannes Waage, Hansjörg Baurecht, Melanie Hotze, David P Strachan, John A Curtin, Klaus Bønnelykke, Chao Tian, Atsushi Takahashi, Jorge Esparza-Gordillo, Alexessander Couto Alves, Jacob P Thyssen, Herman T den Dekker, Manuel A Ferreira, Elisabeth Altmaier, Patrick M A Sleiman, Feng Li Xiao, Juan R Gonzalez, Ingo Marenholz, Birgit Kalb, Maria Pino-Yanes, Cheng-Jian Xu, Lisbeth Carstensen, Maria M Groen-Blokhuis, Cristina Venturini, Craig E Pennell, Sheila J Barton, Albert M Levin, Ivan Curjuric, Mariona Bustamante, Eskil Kreiner-Møller, Gabrielle A Lockett, Jonas Bacelis, Supinda Bunyavanich, Rachel A Myers, Anja Matanovic, Ashish Kumar, Joyce Y Tung, Tomomitsu Hirota, Michiaki Kubo, Wendy L McArdle, A John Henderson, John P Kemp, Jie Zheng, George Davey Smith, Franz Rüschendorf, Anja Bauerfeind, Min Ae Lee-Kirsch, Andreas Arnold, Georg Homuth, Carsten O Schmidt, Elisabeth Mangold, Sven Cichon, Thomas Keil, Elke Rodríguez, Annette Peters, Andre Franke, Wolfgang Lieb, Natalija Novak, Regina Fölster-Holst, Momoko Horikoshi, Juha Pekkanen, Sylvain Sebert, Lise L Husemoen, Niels Grarup, Johan C de Jongste, Fernando Rivadeneira, Albert Hofman, Vincent W V Jaddoe, Suzanne G M A Pasmans, Niels J Elbert, André G Uitterlinden, Guy B Marks, Philip J Thompson, Melanie C Matheson, Colin F Robertson, Australian Asthma Genetics Consortium(AAGC), Janina S Ried, Jin Li, Xian Bo Zuo, Xiao Dong Zheng, Xian Yong Yin, Liang Dan Sun, Maeve A McAleer, Grainne M O'Regan, Caoimhe M R Fahy, Linda E Campbell, Milan Macek, Michael Kurek, Donglei Hu, Celeste Eng, Dirkje S Postma, Bjarke Feenstra, Frank Geller, Jouke Jan Hottenga, Christel M Middeldorp, Pirro Hysi, Veronique Bataille, Tim Spector, Carla M T Tiesler, Elisabeth Thiering, Badri Pahukasahasram, James J Yang, Medea Imboden, Scott Huntsman, Natàlia Vilor-Tejedor, Caroline L Relton, Ronny Myhre, Wenche Nystad, Adnan Custovic, Scott T Weiss, Deborah A Meyers, Cilla Söderhäll, Erik Melén, Carole Ober, Benjamin A Raby, Angela Simpson, Bo Jacobsson, John W Holloway, Hans Bisgaard, Jordi Sunyer, Nicole M Probst-Hensch, L Keoki Williams, Keith M Godfrey, Carol A Wang, Dorret I Boomsma, Mads Melbye, Gerard H Koppelman, Deborah Jarvis, W H Irwin McLean, Alan D Irvine, Xue Jun Zhang, Hakon Hakonarson, Christian Gieger, Esteban G Burchard, Nicholas G Martin, Liesbeth Duijts, Allan Linneberg, Marjo-Riitta Jarvelin, Markus M Nöthen, Susanne Lau, Norbert Hübner, Young-Ae Lee, Mayumi Tamari, David A Hinds, Daniel Glass, Sara J Brown, Joachim Heinrich, David M Evans & Stephan Weidinger for the EArly Genetics and Lifecourse Epidemiology (EAGLE) Eczema Consortium.
    Nat Genet. 2015 Dec;47(12):1449-56. doi: 10.1038/ng.3424. Epub 2015 Oct 19.

  • Meta-analysis identifies seven susceptibility loci involved in the atopic march.
    Marenholz I, Esparza-Gordillo J, Rüschendorf F, Bauerfeind A, Strachan DP, Spycher BD, Baurecht H, Margaritte-Jeannin P, Sääf A, Kerkhof M, Ege M, Baltic S, Matheson MC, Li J, Michel S, Ang WQ, McArdle W, Arnold A, Homuth G, Demenais F, Bouzigon E, Söderhäll C, Pershagen G, de Jongste JC, Postma DS, Braun-Fahrländer C, Horak E, Ogorodova LM, Puzyrev VP, Bragina EY, Hudson TJ, Morin C, Duffy DL, Marks GB, Robertson CF, Montgomery GW, Musk B, Thompson PJ, Martin NG, James A, Sleiman P, Toskala E, Rodriguez E, Fölster-Holst R, Franke A, Lieb W, Gieger C, Heinzmann A, Rietschel E, Keil T, Cichon S, Nöthen MM, Pennell CE, Sly PD, Schmidt CO, Matanovic A, Schneider V, Heinig M, Hübner N, Holt PG, Lau S, Kabesch M, Weidinger S, Hakonarson H, Ferreira MA, Laprise C, Freidin MB, Genuneit J, Koppelman GH, Melén E, Dizier MH, Henderson AJ, Lee YA.
    Nat Commun. 2015 Nov 6;6:8804. doi: 10.1038/ncomms9804.

  • A genome-wide association study reveals 2 new susceptibility loci for atopic dermatitis.
    Schaarschmidt H, Ellinghaus D, Rodríguez E, Kretschmer A, Baurecht H, Lipinski S, Meyer-Hoffert U, Harder J, Lieb W, Novak N, Fölster-Holst R, Esparza-Gordillo J, Marenholz I, Rüschendorf F, Hubner N, Reischl E, Waldenberger M, Gieger C, Illig T, Kabesch M, Zhang XJ, Xiao FL, Lee YA, Franke A, Weidinger S.
    J Allergy Clin Immunol. 2015 Sep;136(3):802-6. doi: 10.1016/j.jaci.2015.01.047. Epub 2015 Apr 10.

  • Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3.
    Budde BS, Mizumoto S, Kogawa R, Becker C, Altmüller J, Thiele H, Rüschendorf F, Toliat MR, Kaleschke G, Hämmerle JM, Höhne W, Sugahara K, Nürnberg P, Kennerknecht I.
    Hum Genet. 2015 Jul;134(7):691-704. doi: 10.1007/s00439-015-1549-2. Epub 2015 Apr 19.

  • PDE3A mutations cause autosomal dominant hypertension with brachydactyly.
    Maass PG, Aydin A, Luft FC, Schächterle C, Weise A, Stricker S, Lindschau C, Vaegler M, Qadri F, Toka HR, Schulz H, Krawitz PM, Parkhomchuk D, Hecht J, Hollfinger I, Wefeld-Neuenfeld Y, Bartels-Klein E, Mühl A, Kann M, Schuster H, Chitayat D, Bialer MG, Wienker TF, Ott J, Rittscher K, Liehr T, Jordan J, Plessis G, Tank J, Mai K, Naraghi R, Hodge R, Hopp M, Hattenbach LO, Busjahn A, Rauch A, Vandeput F, Gong M, Rüschendorf F, Hübner N, Haller H, Mundlos S, Bilginturan N, Movsesian MA, Klussmann E, Toka O, Bähring S.
    Nat Genet. 2015 Jun;47(6):647-53. doi: 10.1038/ng.3302. Epub 2015 May 11.


    2014

  • Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.
    Schubert J, Siekierska A, Langlois M, May P, Huneau C, Becker F, Muhle H, Suls A, Lemke JR, de Kovel CG, Thiele H, Konrad K, Kawalia A, Toliat MR, Sander T, Rüschendorf F, Caliebe A, Nagel I, Kohl B, Kecskés A, Jacmin M, Hardies K, Weckhuysen S, Riesch E, Dorn T, Brilstra EH, Baulac S, Møller RS, Hjalgrim H, Koeleman BP; EuroEPINOMICS RES Consortium, Jurkat-Rott K, Lehman-Horn F, Roach JC, Glusman G, Hood L, Galas DJ, Martin B, de Witte PA, Biskup S, De Jonghe P, Helbig I, Balling R, Nürnberg P, Crawford AD, Esguerra CV, Weber YG, Lerche H.
    Nat Genet. 2014 Dec;46(12):1327-32. doi: 10.1038/ng.3130. Epub 2014 Nov 2.

  • Recessive mutations in PCBD1 cause a new type of early-onset diabetes.
    Simaite D, Kofent J, Gong M, Rüschendorf F, Jia S, Arn P, Bentler K, Ellaway C, Kühnen P, Hoffmann GF, Blau N, Spagnoli FM, Hübner N, Raile K.
    Diabetes. 2014 Oct;63(10):3557-64. doi: 10.2337/db13-1784. Epub 2014 May 21.

  • Inherited susceptibility to pre B-ALL caused by germline transmission of PAX5 c.547G>A.
    Auer F, Rüschendorf F, Gombert M, Husemann P, Ginzel S, Izraeli S, Harit M, Weintraub M, Weinstein OY, Lerer I, Stepensky P, Borkhardt A, Hauer J.
    Leukemia. 2014 May;28(5):1136-8. doi: 10.1038/leu.2013.363. Epub 2013 Nov 29.

  • Cryptogenic multifocal ulcerating stenosing enteritis associated with homozygous deletion mutations in cytosolic phospholipase A2-a.
    Brooke MA, Longhurst HJ, Plagnol V, Kirkby NS, Mitchell JA, Rüschendorf F, Warner TD, Kelsell DP, Macdonald TT.
    Gut. 2014 Jan;63(1):96-104. doi: 10.1136/gutjnl-2012-303581. Epub 2012 Dec 25.


    2013

  • [Primary failure of eruption (PFE). Clinical and molecular genetics analysis].
    Stellzig-Eisenhauer A, Decker E, Meyer-Marcotty P, Rau C, Fiebig BS, Kress W, Saar K, Rüschendorf F, Hubner N, Grimm T, Witt E, Weber BH.
    Orthod Fr. 2013 Sep;84(3):241-50. doi: 10.1051/orthodfr/2013055. Epub 2013 Sep 3. French.

  • A functional IL-6 receptor (IL6R) variant is a risk factor for persistent atopic dermatitis.
    Esparza-Gordillo J, Schaarschmidt H, Liang L, Cookson W, Bauerfeind A, Lee-Kirsch MA, Nemat K, Henderson J, Paternoster L, Harper JL, Mangold E, Nothen MM, Rüschendorf F, Kerscher T, Marenholz I, Matanovic A, Lau S, Keil T, Bauer CP, Kurek M, Ciechanowicz A, Macek M, Franke A, Kabesch M, Hubner N, Abecasis G, Weidinger S, Moffatt M, Lee YA.
    J Allergy Clin Immunol. 2013 Aug;132(2):371-7. doi: 10.1016/j.jaci.2013.01.057. Epub 2013 Apr 9.

  • Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy.
    Møller RS, Weber YG, Klitten LL, Trucks H, Muhle H, Kunz WS, Mefford HC, Franke A, Kautza M, Wolf P, Dennig D, Schreiber S, Rückert IM, Wichmann HE, Ernst JP, Schurmann C, Grabe HJ, Tommerup N, Stephani U, Lerche H, Hjalgrim H, Helbig I, Sander T; EPICURE Consortium.
    Epilepsia. 2013 Feb;54(2):256-64. doi: 10.1111/epi.12078. Epub 2013 Jan 7.


    2012

  • Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.
    EPICURE Consortium; EMINet Consortium, Steffens M, Leu C, Ruppert AK, Zara F, Striano P, Robbiano A, Capovilla G, Tinuper P, Gambardella A, Bianchi A, La Neve A, Crichiutti G, de Kovel CG, Kasteleijn-Nolst Trenité D, de Haan GJ, Lindhout D, Gaus V, Schmitz B, Janz D, Weber YG, Becker F, Lerche H, Steinhoff BJ, Kleefuß-Lie AA, Kunz WS, Surges R, Elger CE, Muhle H, von Spiczak S, Ostertag P, Helbig I, Stephani U, Møller RS, Hjalgrim H, Dibbens LM, Bellows S, Oliver K, Mullen S, Scheffer IE, Berkovic SF, Everett KV, Gardiner MR, Marini C, Guerrini R, Lehesjoki AE, Siren A, Guipponi M, Malafosse A, Thomas P, Nabbout R, Baulac S, Leguern E, Guerrero R, Serratosa JM, Reif PS, Rosenow F, Mörzinger M, Feucht M, Zimprich F, Kapser C, Schankin CJ, Suls A, Smets K, De Jonghe P, Jordanova A, Caglayan H, Yapici Z, Yalcin DA, Baykan B, Bebek N, Ozbek U, Gieger C, Wichmann HE, Balschun T, Ellinghaus D, Franke A, Meesters C, Becker T, Wienker TF, Hempelmann A, Schulz H, Rüschendorf F, Leber M, Pauck SM, Trucks H, Toliat MR, Nürnberg P, Avanzini G, Koeleman BP, Sander T.
    Hum Mol Genet. 2012 Dec 15;21(24):5359-72. doi: 10.1093/hmg/dds373. Epub 2012 Sep 4.

  • Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy.
    Preising MN, Hausotter-Will N, Solbach MC, Friedburg C, Rüschendorf F, Lorenz B.
    Invest Ophthalmol Vis Sci. 2012 Jun 8;53(7):3463-72. doi: 10.1167/iovs.12-9519.

  • Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss.
    Baumann M, Giunta C, Krabichler B, Rüschendorf F, Zoppi N, Colombi M, Bittner RE, Quijano-Roy S, Muntoni F, Cirak S, Schreiber G, Zou Y, Hu Y, Romero NB, Carlier RY, Amberger A, Deutschmann A, Straub V, Rohrbach M, Steinmann B, Rostásy K, Karall D, Bönnemann CG, Zschocke J, Fauth C.
    Am J Hum Genet. 2012 Feb 10;90(2):201-16. doi: 10.1016/j.ajhg.2011.12.004. Epub 2012 Jan 19.

  • Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies.
    EPICURE Consortium, Leu C, de Kovel CG, Zara F, Striano P, Pezzella M, Robbiano A, Bianchi A, Bisulli F, Coppola A, Giallonardo AT, Beccaria F, Trenité DK, Lindhout D, Gaus V, Schmitz B, Janz D, Weber YG, Becker F, Lerche H, Kleefuss-Lie AA, Hallman K, Kunz WS, Elger CE, Muhle H, Stephani U, Møller RS, Hjalgrim H, Mullen S, Scheffer IE, Berkovic SF, Everett KV, Gardiner MR, Marini C, Guerrini R, Lehesjoki AE, Siren A, Nabbout R, Baulac S, Leguern E, Serratosa JM, Rosenow F, Feucht M, Unterberger I, Covanis A, Suls A, Weckhuysen S, Kaneva R, Caglayan H, Turkdogan D, Baykan B, Bebek N, Ozbek U, Hempelmann A, Schulz H, Rüschendorf F, Trucks H, Nürnberg P, Avanzini G, Koeleman BP, Sander T.
    Epilepsia. 2012 Feb;53(2):308-18. doi: 10.1111/j.1528-1167.2011.03379.x. Epub 2012 Jan 13.

  • A genetic basis for mechanosensory traits in humans.
    Frenzel H, Bohlender J, Pinsker K, Wohlleben B, Tank J, Lechner SG, Schiska D, Jaijo T, Rüschendorf F, Saar K, Jordan J, Millán JM, Gross M, Lewin GR.
    PLoS Biol. 2012;10(5):e1001318. doi: 10.1371/journal.pbio.1001318. Epub 2012 May 1.


    2011

  • Inflammatory skin and bowel disease linked to ADAM17 deletion.
    Blaydon DC, Biancheri P, Di WL, Plagnol V, Cabral RM, Brooke MA, van Heel DA, Rüschendorf F, Toynbee M, Walne A, O'Toole EA, Martin JE, Lindley K, Vulliamy T, Abrams DJ, MacDonald TT, Harper JI, Kelsell DP.
    N Engl J Med. 2011 Oct 20;365(16):1502-8.


    2010

  • Childhood hypertension in autosomal-dominant hypertension with brachydactyly.
    Toka O, Maass PG, Aydin A, Toka H, Hübner N, Rüschendorf F, Gong M, Luft FC, Bähring S.
    Hypertension. 2010 Nov;56(5):988-94. Epub 2010 Sep 13.

  • Evidence for linkage of the bladder exstrophy-epispadias complex on chromosome 4q31.21-22 and 19q13.31-41 from a consanguineous Iranian family.
    Reutter H, Rüschendorf F, Mattheisen M, Draaken M, Bartels E, Hübner N, Hoffmann P, Payabvash S, Saar K, Nöthen MM, Kajbafzadeh AM, Ludwig M.
    Birth Defects Res A Clin Mol Teratol. 2010 Sep;88(9):757-61.

  • Clinical and genetic features in a family with CADASIL and high lipoprotein (a) values.
    Gong M, Rueschendorf F, Marx P, Schulz H, Kraft HG, Huebner N, Koennecke HC.
    J Neurol. 2010 Aug;257(8):1240-5. Epub 2010 Feb 9.

  • Haplotypes of dopamine and serotonin transporter genes are associated with antisocial personality disorder in alcoholics.
    Reese J, Kraschewski A, Anghelescu I, Winterer G, Schmidt LG, Gallinat J, Rüschendorf F, Rommelspacher H, Wernicke C.
    Psychiatr Genet. 2010 Aug;20(4):140-52.

  • Primary failure of eruption (PFE)--clinical and molecular genetics analysis.
    Stellzig-Eisenhauer A, Decker E, Meyer-Marcotty P, Rau C, Fiebig BS, Kress W, Saar K, Rüschendorf F, Hubner N, Grimm T, Witt E, Weber BH.
    J Orofac Orthop. 2010 Jan;71(1):6-16. Epub 2010 Feb 5.


    2009

  • RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection.
    Henneke M, Diekmann S, Ohlenbusch A, Kaiser J, Engelbrecht V, Kohlschütter A, Krätzner R, Madruga-Garrido M, Mayer M, Opitz L, Rodriguez D, Rüschendorf F, Schumacher J, Thiele H, Thoms S, Steinfeld R, Nürnberg P, Gärtner J.
    Nat Genet. 2009 Jul;41(7):773-5. Epub 2009 Jun 14.

  • Characterisation of Nob3, a major quantitative trait locus for obesity and hyperglycaemia on mouse Chromosome 1.
    Vogel H, Nestler M, Rüschendorf F, Block MD, Tischer S, Kluge R, Schurmann A, Joost HG, Scherneck S.
    Physiol Genomics. 2009 Jul 9;38(2):226-32. Epub 2009 May 26.

  • Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship.
    Lebrun AH, Storch S, Rüschendorf F, Schmiedt ML, Kyttälä A, Mole SE, Kitzmüller C, Saar K, Mewasingh LD, Boda V, Kohlschütter A, Ullrich K, Braulke T, Schulz A.
    Hum Mutat. 2009 May;30(5):E651-61.

  • Girls homozygous for an IL-2-inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation.
    Huck K, Feyen O, Niehues T, Rüschendorf F, Hubner N, Laws HJ, Telieps T, Knapp S, Wacker HH, Meindl A, Jumaa H, Borkhardt A.
    J Clin Invest. 2009 May;119(5):1350-8.

  • A novel locus for arterial hypertension on chromosome 1p36 maps to a metabolic syndrome trait cluster in the Sorbs, a Slavic population isolate in Germany.
    Hoffmann K, Planitz C, Rüschendorf F, Müller-Myhsok B, Stassen HH, Lucke B, Mattheisen M, Stumvoll M, Bochmann R, Zschornack M, Wienker TF, Nürnberg P, Reis A, Luft FC, Lindner TH.
    J Hypertens. 2009 May;27(5):983-90.

  • A common variant on chromosome 11q13 is associated with atopic dermatitis.
    Esparza-Gordillo J, Weidinger S, Fölster-Holst R, Bauerfeind A, Rüschendorf F, Patone G, Rohde K, Marenholz I, Schulz F, Kerscher T, Hubner N, Wahn U, Schreiber S, Franke A, Vogler R, Heath S, Baurecht H, Novak N, Rodriguez E, Illig T, Lee-Kirsch MA, Ciechanowicz A, Kurek M, Piskackova T, Macek M, Lee YA, Ruether A.
    Nat Genet. 2009 May;41(5):596-601. Epub 2009 Apr 6.

  • ICOS-gene variants are not associated with atopic disease susceptibility in European children.
    Beier KC, Humberdros S, Witt H, Illi S, Rüschendorf F, Nickel R, Lee YA, Lau S, Wahn U, Hamelmann E.
    Pediatr Allergy Immunol. 2009 May;20(3):242-5. Epub 2008 Oct 6.

  • Mutations in SPINT2 Cause a Syndromic Form of Congenital Sodium Diarrhea.
    Heinz-Erian P, Müller T, Krabichler B, Schranz M, Becker C, Rüschendorf F, Nürnberg P, Rossier B, Vujic M, Booth IW, Holmberg C, Wijmenga C, Grigelioniene G, Kneepkens CM, Rosipal S, Mistrik M, Kappler M, Michaud L, Dóczy LC, Siu VM, Krantz M, Zoller H, Utermann G, Janecke AR.
    Am J Hum Genet. 2009 Feb;84(2):188-96. Epub 2009 Jan 29.

  • Genome-wide linkage scan for bladder exstrophy-epispadias complex.
    Ludwig M, Rüschendorf F, Saar K, Hubner N, Siekmann L, Boyadjiev SA, Reutter H.
    Birth Defects Res A Clin Mol Teratol. 2009 Feb;85(2):174-8.

  • IL13 variants are associated with total serum IgE and early sensitization to food allergens in children with atopic dermatitis.
    Zitnik SE, Rüschendorf F, Müller S, Sengler C, Lee YA, Griffioen RW, Meglio P, Wahn U, Witt H, Nickel R.
    Pediatr Allergy Immunol. 2009 Sep;20(6):551-5. Epub 2009 Jun 10.

  • A systematic approach to mapping recessive disease genes in individuals from outbred populations.
    Hildebrandt F, Heeringa SF, Rüschendorf F, Attanasio M, Nürnberg G, Becker C, Seelow D, Hubner N, Chernin G, Vlangos CN, Zhou W, O'Toole JF, Hoskins BE, Wolf MT, Hinkes BG, Chaib H, Ashraf S, Allen SJ, Vega-Warner V, Wise E, Harville HM, Lyons RH, Washburn J, Macdonald J, Nürnberg P, Otto EA.
    PLoS Genet. 2009 Jan;5(1):e1000353. Epub 2009 Jan 23.


    2008

  • PTHR1 Loss-of-Function Mutations in Familial, Nonsyndromic Primary Failure of Tooth Eruption.
    Decker E, Stellzig-Eisenhauer A, Fiebig BS, Rau C, Kress W, Saar K, Rüschendorf F, Hubner N, Grimm T, Weber BH.
    Am J Hum Genet. 2008 Dec;83(6):781-6.

  • A mutation in the canalicular phospholipid transporter gene, ABCB4, is associated with cholestasis, ductopenia, and cirrhosis in adults.
    Gotthardt D, Runz H, Keitel V, Fischer C, Flechtenmacher C, Wirtenberger M, Weiss KH, Imparato S, Braun A, Hemminki K, Stremmel W, Rüschendorf F, Stiehl A, Kubitz R, Burwinkel B, Schirmacher P, Knisely AS, Zschocke J, Sauer P.
    Hepatology. 2008 Oct;48(4):1157-66.

  • G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth.
    Pasternack SM, von Kügelgen I, Aboud KA, Lee YA, Rüschendorf F, Voss K, Hillmer AM, Molderings GJ, Franz T, Ramirez A, Nürnberg P, Nöthen MM, Betz RC.
    Nat Genet. 2008 Mar;40(3):329-34. Epub 2008 Feb 24


    2007

  • A common haplotype of the IL-31 gene influencing gene expression is associated with nonatopic eczema.
    Schulz F, Marenholz I, Folster-Holst R, Chen C, Sternjak A, Baumgrass R, Esparza-Gordillo J, Gruber C, Nickel R, Schreiber S, Stoll M, Kurek M, Rüschendorf F, Hubner N, Wahn U, Lee YA.
    J Allergy Clin Immunol. 2007 Sep 25; [Epub ahead of print]

  • Variants in a novel epidermal collagen gene (COL29A1) are associated with atopic dermatitis.
    Soderhall C, Marenholz I, Kerscher T, Rüschendorf F, Esparza-Gordillo J, Worm M, Gruber C, Mayr G, Albrecht M, Rohde K, Schulz H, Wahn U, Hubner N, Lee YA.
    PLoS Biol. 2007 Sep;5(9):e242.

  • SNP genome scanning localises oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner ear disease and FADD in ocular coloboma.
    Gregory-Evans CY, Moosajee M, Hodges MD, Mackay DS, Game L, Vargesson N, Bloch-Zupan A, Rüschendorf F, Santos-Pinto L, Wackens G, Gregory-Evans K.
    Hum Mol Genet. 2007 Oct 15;16(20):3482-93. Epub 2007 Jul 25.

  • Molecular karyotyping in patients with mental retardation using 100 K SNP arrays.
    Hoyer J, Dreweke A, Becker C, Gohring I, Thiel CT, Peippo MM, Rauch R, Hofbeck M, Trautmann U, Zweier C, Zenker M, Huffmeier U, Kraus C, Ekici AB, Rüschendorf F, Nürnberg P, Reis A, Rauch A.
    J Med Genet. 2007 Oct;44(10):629-36. Epub 2007 Jun 29.

  • Genome-wide linkage analysis of malaria infection intensity and mild disease.
    Timmann C, Evans JA, Konig IR, Kleensang A, Rüschendorf F, Lenzen J, Sievertsen J, Becker C, Enuameh Y, Kwakye KO, Opoku E, Browne EN, Ziegler A, Nürnberg P, Horstmann RD.
    PLoS Genet. 2007 Mar 23;3(3):e48.

  • Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci.
    Najmabadi H, Motazacker MM, Garshasbi M, Kahrizi K, Tzschach A, Chen W, Behjati F, Hadavi V, Nieh SE, Abedini SS, Vazifehmand R, Firouzabadi SG, Jamali P, Falah M, Seifati SM, Gruters A, Lenzner S, Jensen LR, Rüschendorf F, Kuss AW, Ropers HH.
    Hum Genet. 2007 Mar;121(1):43-8. Epub 2006 Nov 21

  • Linkage analysis using sex-specific recombination fractions with GENEHUNTER-MODSCORE.
    Dietter J, Mattheisen M, Fürst R, Rüschendorf F, Wienker TF, Strauch K.
    Bioinformatics. 2007 Jan 1;23(1):64-70. Epub 2006 Oct 23.


    2006

  • The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia.
    Blaydon DC, Ishii Y, O'toole EA, Unsworth HC, Teh MT, Rüschendorf F, Sinclair C, Hopsu-Havu VK, Tidman N, Moss C, Watson R, de Berker D, Wajid M, Christiano AM, Kelsell DP.
    Nat Genet. 2006 Nov;38(11):1245-7. Epub 2006 Oct 15.

  • Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p.
    Lee-Kirsch MA, Gong M, Schulz H, Rüschendorf F, Stein A, Pfeiffer C, Ballarini A, Gahr M, Hubner N, Linne M.
    Am J Hum Genet. 2006 Oct;79(4):731-7. Epub 2006 Aug 17.

  • Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation.
    Rauch A, Hoyer J, Guth S, Zweier C, Kraus C, Becker C, Zenker M, Huffmeier U, Thiel C, Rüschendorf F, Nürnberg P, Reis A, Trautmann U.
    Am J Med Genet A. 2006 Oct 1;140(19):2063-74.

  • Filaggrin loss-of-function mutations predispose to phenotypes involved in the atopic march.
    Marenholz I, Nickel R, Rüschendorf F, Schulz F, Esparza-Gordillo J, Kerscher T, Gruber C, Lau S, Worm M, Keil T, Kurek M, Zaluga E, Wahn U, Lee YA.
    J Allergy Clin Immunol. 2006 Oct;118(4):866-71. Epub 2006 Sep 1.

  • SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly.
    Garshasbi M, Motazacker MM, Kahrizi K, Behjati F, Abedini SS, Nieh SE, Firouzabadi SG, Becker C, Rüschendorf F, Nürnberg P, Tzschach A, Vazifehmand R, Erdogan F, Ullmann R, Lenzner S, Kuss AW, Ropers HH, Najmabadi H.
    Hum Genet. 2006 Feb;118(6):708-15. Epub 2005 Nov 26.


    2005

  • Linkage analysis of alcohol dependence using MOD scores
    Konstantin Strauch, Robert Fürst, Franz Rüschendorf, Christine Windemuth, Johannes Dietter, Antonia Flaquer, Max P Baur and Thomas F Wienker
    BMC Genetics 2005 Dec 30;6(Suppl 1):162

  • Severely Incapacitating Mutations in Patients with Extreme Short Stature Identify RNA-Processing Endoribonuclease RMRP as an Essential Cell Growth Regulator.
    Thiel CT, Horn D, Zabel B, Ekici AB, Salinas K, Gebhart E, Rüschendorf F, Sticht H, Spranger J, Müller D, Zweier C, Schmitt ME, Reis A, Rauch A.
    Am J Hum Genet. 2005 Nov;77(5):795-806.

  • ALOHOMORA: a tool for linkage analysis using 10K SNP array data.
    Rüschendorf F, Nürnberg P.
    Bioinformatics. 2005 May 1;21(9):2123-5.

  • Genomewide Linkage Analysis Identifies Novel Genetic Loci for Lung Function in Mice.
    Reinhard C, Meyer B, Fuchs H, Stoeger T, Eder G, Rüschendorf F, Heyder J, Nürnberg P, Hrabe de Angelis M, Schulz H.
    Am J Respir Crit Care Med. 2005 Apr 15;171(8):880-8.

  • Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2.
    Metherell LA, Chapple JP, Cooray S, David A, Becker C, Rüschendorf F, Naville D, Begeot M, Khoo B, Nürnberg P, Huebner A, Cheetham ME, Clark AJ.
    Nat Genet. 2005 Feb;37(2):166-70.

  • A genome-wide screen on the genetics of atopy in a multiethnic European population reveals a major atopy locus on chromosome 3q21.3.
    Kurz T, Altmueller J, Strauch K, Rüschendorf F, Heinzmann A, Moffatt MF, Cookson WO, Inacio F, Nürnberg P, Stassen HH, Deichmann KA.
    Allergy. 2005 Feb;60(2):192-9.

  • Phenotypic and genetic heterogeneity in a genome-wide linkage study of asthma families.
    Altmüller J, Seidel C, Lee YA, Loesgen S, Bulle D, Friedrichs F, Jellouschek H, Kelber J, Keller A, Schuster A, Silbermann M, Wahlen W, Wolff P, Rüschendorf F, Schlenvoigt G, Nürnberg P, Wjst M.
    BMC Pulm Med. 2005 Jan 5;5(1):1


    2004

  • Molecular karyotyping using an SNP array for genomewide genotyping.
    Rauch A, Rüschendorf F, Huang J, Trautmann U, Becker C, Thiel C, Jones KW,Reis A, Nürnberg P.
    J Med Genet. 2004 Dec;41(12):916-22.

  • Missense mutations of ACTA1 cause dominant congenital myopathy with cores.
    Kaindl AM, Rüschendorf F, Krause S, Goebel HH, Koehler K, Becker C, Pongratz D, Muller-Hocker J, Nürnberg P, Stoltenburg-Didinger G, Lochmuller H, Huebner A.
    J Med Genet. 2004 Nov;41(11):842-8.

  • Mutations in a novel gene, encoding a single transmembrane domain protein are associated with familial glucocorticoid deficiency type 2.
    Metherell LA, Cooray S, Huebner A, Rüschendorf F, Naville D, Begeot M, Clark AJ.
    Endocr Res. 2004 Nov;30(4):889-90.

  • Genome-wide linkage analysis reveals evidence for four new susceptibility loci for familial euthyroid goiter.
    Bayer Y, Neumann S, Meyer B, Rüschendorf F, Reske A, Brix T, Hegedus L, Langer P, Nürnberg P, Paschke R.
    J Clin Endocrinol Metab. 2004 Aug;89(8):4044-52.

  • Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.
    Janecke AR, Thompson DA, Utermann G, Becker C, Hubner CA, Schmid E, McHenry CL, Nair AR, Rüschendorf F, Heckenlively J, Wissinger B, Nürnberg P, Gal A.
    Nature Genetics 2004 Aug;36(8):850-4. Epub 2004 Jul 18.Erratum in: Nat Genet. 2004 Sep;36(9):1024.

  • Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease.
    Uhlenberg B, Schuelke M, Rüschendorf F, Ruf N, Kaindl AM, Henneke M, Thiele H, Stoltenburg-Didinger G, Aksu F, Topaloglu H, Nürnberg P, Hubner C, Weschke B, Gartner J.
    Am J Hum Genet. 2004 Aug;75(2):251-60. Epub 2004 Jun 10.

  • Divergent genetic and epigenetic post-zygotic isolation mechanisms in Mus and Peromyscus.
    Zechner U, Shi W, Hemberger M, Himmelbauer H, Otto S, Orth A, Kalscheuer V, Fischer U, Elango R, Reis A, Vogel W, Ropers H, Rüschendorf F, Fundele R.
    J Evol Biol. 2004 Mar;17(2):453-60.


    2003

  • Interleukin-10 promoter polymorphism IL10.G and familial early onset psoriasis.
    Hensen P, Asadullah K, Windemuth C, Rüschendorf F, Huffmeier U, Stander M, Schmitt-Egenolf M, Wienker TF, Reis A, Traupe H.
    Br J Dermatol. 2003 Aug; 149(2): 381-5.

  • Association scan of the novel psoriasis susceptibility region on chromosome 19: evidence for both susceptible and protective loci.
    Hensen P, Windemuth C, Huffmeier U, Rüschendorf F, Stadelmann A, Hoppe V, Fenneker D, Stander M, Schmitt-Egenolf M, Wienker TF, Traupe H, Reis A.
    Exp Dermatol. 2003 Aug; 12(4): 490-6.

  • Murine susceptibility to Chagas' disease maps to chromosomes 5 and 17.
    Graefe SE, Meyer BS, Muller-Myhsok B, Rüschendorf F, Drosten C, Laue T, Steeg C, Nürnberg P, Fleischer B.
    Genes Immun. 2003 Jul; 4(5): 321-5.

  • A second large family with catatonic schizophrenia supports the region distally of CHRNA7 on chromosome 15q14-15.
    Meyer J, Rüschendorf F, Lesch KP.
    Mol Psychiatry. 2003 Mar;8(3):259-60.

  • Genome scan for childhood and adolescent obesity in German families.
    Saar K, Geller F, Rüschendorf F, Reis A, Friedel S, Schauble N, Nürnberg P, Siegfried W, Goldschmidt HP, Schafer H, Ziegler A, Remschmidt H, Hinney A, Hebebrand J.
    Pediatrics. 2003 Feb;111(2):321-7.


    2002

  • Association of the 867Asp variant of the human anion exchanger 3 gene with common subtypes of idiopathic generalized epilepsy.
    Sander T, Toliat MR, Heils A, Leschik G, Becker C, Rüschendorf F, Rohde K, Mundlos S, Nürnberg P.
    Epilepsy Res. 2002 Oct;51(3):249-55.

  • Periodic catatonia: confirmation of linkage to chromosome 15 and further evidence for genetic heterogeneity.
    Stober G, Seelow D, Rüschendorf F, Ekici A, Beckmann H, Reis A.
    Hum Genet. 2002 Oct;111(4-5):323-30.

  • Mapping of gene loci for nephronophthisis type 4 and Senior-Loken syndrome, to chromosome 1p36.
    Schuermann MJ, Otto E, Becker A, Saar K, Rüschendorf F, Polak BC, Ala-MelloS, Hoefele J, Wiedensohler A, Haller M, Omran H, Nürnberg P, Hildebrandt F.
    Am J Hum Genet. 2002 May;70(5):1240-6

  • Exclusion of the neuronal nicotinic acetylcholine receptor [alpha]7 subunit gene as a candidate for catatonic schizophrenia in a large family supporting the chromosome 15q13-22 locus
    Meyer J, Ortega G, Schraut K, Nürnberg G, Rüschendorf F, Saar K, Mossner R, Wienker TF, Reis A, Stober G, Lesch KP
    Mol Psychiatry 2002;7(2):220-223


    2001

  • Refinement of the gene locus for autosomal dominant medullary cystic kidney disease type 1 (MCKD1) and construction of a physical and partial transcriptional map of the region
    Fuchshuber A, Kroiss S, Karle S, Berthold S, Huck K, Burton C, Rahman N, Koptides M, Deltas C, Otto E, Rüschendorf F,Feest T, Hildebrandt F
    Genomics 2001 Mar;72(3):278-284

  • Fine mapping and single nucleotide polymorphism association results of candidate genes for asthma and related phenotypes
    Immervoll T, Loesgen S, Dutsch G, Gohlke H, Herbon N, Klugbauer S, Dempfle A, Bickeboller H, Becker-Follmann J, Rüschendorf F, Saar K, Reis A, Wichmann HE, Wjst M
    Hum Mutat 2001 Oct;18(4):327-36.

  • A Novel Form of "Central Pouchlike" Cataract, with Sutural Opacities, Maps to Chromosome 15q21-22
    Vanita, Singh JR, Sarhadi VK, Singh D, Reis A, Rueschendorf F, Becker-Follmann J, Jung M, Sperling K
    Am J Hum Genet 2001 Feb;68(2):509-514

  • Assignment of PGL3 to chromosome 1 (q21-q23) in a family with autosomal dominant non-chromaffin paraganglioma
    Stephan Niemann, Johannes Becker-Follmann, Gudrun Nürnberg, Franz Rüschendorf, Nicole Sieweke, Monika Hügens-Penzel, Horst Traupe, Thomas F. Wienker, André Reis, Ulrich Müller
    Am J of Med Genet 2001 Jan; 98(1):32-36


    2000

  • A major susceptibility locus for atopic dermatitis maps to chromosome 3q21
    Lee YA, Wahn U, Kehrt R, Tarani L, Businco L, Gustafsson D, Andersson F, Oranje AP, Wolkertstorfer A, Berg Av, Hoffmann U, Kuster W, Wienker T, Rüschendorf F, Reis A
    Nature Genetics 2000 Dec;26(4):470-3

  • A European study on the genetics of mite sensitization
    Kurz T, Strauch K, Heinzmann A, Braun S, Jung M, Rüschendorf F, Moffatt MF, Cookson WO, Inacio F, Ruffilli A, Nordskov-Hansen G, Peltre G, Forster J, Kuehr J, Reis A, Wienker TF, Deichmann KA
    J Allergy Clin Immunol. 2000 Nov;106(5 Pt 1):925-932

  • Splitting Schizophrenia: Periodic Catatonia-Susceptibility Locus on Chromosome 15q15
    Gerald Stöber, Kathrin Saar, Franz Rüschendorf, Jobst Meyer, Gudrun Nürnberg, Susanne Jatzke, Ernst Franzek, André Reis, Klaus-Peter Lesch, Thomas F. Wienker, Helmut Beckmann
    Am J Hum Genet 2000; 67(5): 1201

  • Genomewide scan in German families reveals evidence for a novel psoriasis-susceptibility locus on chromosome 19p13
    Lee-YA, Rüschendorf-F, Windemuth-C, Schmitt-Egenolf-M, Stadelmann-A, Nürnberg-G, Stander-M, Wienker-TF, Reis-A, Traupe-H
    Am J Hum Genet 2000; 67 (4) : 1020-1024

  • Genetics of atopy in a mouse model: polymorphism of the IL-5 receptor alpha chain
    Daser-A, Koetz-K, Batjer-N, Jung-M, Rüschendorf-F, Goltz-M, Ellerbrok-H, Renz-H, Walter-J, Paulsen-M
    Immunogenetics 2000; 51 (8-9) : 632-638

  • Evidence of further genetic heterogeneity in autosomal dominant medullary cystic kidney disease
    Kroiss S, Huck K, Berthold S, Rüschendorf F, Scolari F, Caridi G, Ghiggeri GM, Hildebrandt F, Fuchshuber A
    Nephrol Dial Transplant 2000 Jun;15(6):818-21

  • Identification of a New Gene Locus for Adolescent Nephronophthisis, on Chromosome 3q22 in a Large Venezuelan Pedigree
    Heymut Omran, Carmen Fernandez, Martin Jung, Karsten Häffner, Bernardo Fargier, Aminta Villaquiran, Rüdiger Waldherr, Norbert Gretz, Matthias Brandis, Franz Rüschendorf, André Reis and Friedhelm Hildebrandt
    Am J Hum Genet 66 (2000) 118



  • 1999

  • Genetic Dissection of X-Linked Interspecific Hybrid Placental Dysplasia in Congenic Mouse Strains
    Myriam C. Hemberger, Robert S. Pearsall, Ulrich Zechner, Annie Orth, Sabine Otto, Franz Rüschendorf, Reinald Fundele and Rosemary Elliott
    Genetics 153: 383-390 (1999)


  • Homozygosity Mapping in Families with Joubert Syndrome Identifies a Locus on Chromosome 9q34.3 and Evidence for Genetic Heterogeneity
    Kathrin Saar, Lihadh Al-Gazali, Lászlé Sztriha, Franz Rüschendorf, Mohammed Nur-E-Kamal, André Reis and Riad Bayoumi
    Am J Hum Genet 65 (1999) 1666


  • A genome-wide search for linkage to asthma
    Wjst M, Fischer G, Immervoll T, Jung M, Saar K, Rüschendorf F, Reis A, Ulbrecht M, Gomolka M, Weiss EH, Jaeger L, Nickel R, Richter K, Kjellman NIM, Griese M, von Berg A, Gappa M, Riedel F, Boehle M, van Koningsbruggen S, Schoberth P, Szczepanski R, Dorsch W, Silbermann M, Loesgen S, Scholz M, Bickeböller H, Wichmann HE
    Genomics 58 (1999) 1-8


  • Limb Mammary Syndrome (LMS): A new genetic disorder with mammary hypoplasia, ectrodactyly and other hand/foot anomalies maps to human chromosome 3q27.
    van Bokhoven H, Jung M, Smits APT, van Beersum S, Rüschendorf F, van Steensel M, Veenstra M, Tuerlings JHAM, Mariman ECM, Brunner HG, Wienker TF, Reis A, Ropers HH, Hamel BCJ
    Am J Hum Genet 64(1999) 538-546


  • Promotor Polymorphism at -238 of the Tumor Necrosis Factor alpha gene is not associated with early onset psoriasis when tested by the transmission disequilibrium test.
    Jacob N, Rüschendorf F, Schmitt-Egenolf M, Hennies HC, Friedl G, Ständer M, Wienker TF, Reis A, Traupe H
    J Invest Dermatol 112: 514-515 (1999)



  • 1998

  • The gene for human fibronectin glomerulopathy (GFND) maps to 1q32 in the region of the regulator of complement activation (RCA) gene cluster.
    Vollmer, M, Jung M, Rüschendorf F, Ruf R, Wienker T, Reis A, Krapf R, Hildebrandt F
    Am. J. Hum. Genet. 63(6) (1998) 1724-1731


  • Gene localisation for an autosomal dominant familial periodic fever to 12p14.
    Mulley J, Saar K, Hewitt G, Rüschendorf F, Phillips H, Colley A, Sillence D, Reis A, Wilson M
    Am. J. Hum. Genet. 62 (1998) 884-889



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    Last updated on Feb 2019