High ranking publications 2010

• Van der Veen RL, Fuijkschot J, Willemsen MA, Cruysberg JR, Berendschot TT, Theelen T.  patients with Sjögren-Larsson syndrome lack macular pigment. Ophthalmology. 2010 May;117 (5):966-71. Epub 2010 Feb 16.
  Read more...
• Littink KW, van den Born LI, Koenekoop RK, Collin RW, Zonneveld MN, Blokland EA, Khan H, Theelen T, Hoyng CB, Cremers FP, den Hollander AI, Klevering BJ. Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype. Ophthalmology. 2010 Oct;117(10):2026-33, 2033.e1-7.
  Read more...
• Drenth JP, Chrispijn M, Nagorney DM, Kamath PS, Torres VE. Medical and surgical treatment options for polycystic liver disease. Hepatology 2010 Dec;52(6):2223-2230.
  Read more...
• Vermeer S, Hoischen A, Meijer RP, Gilissen C, Neveling K, Wieskamp N, de
  Brouwer A, Koenig M, Anheim M, Assoum M, Drouot N, Todorovic S, Milic-Rasic V,
  Lochmüller H, Stevanin G, Goizet C, David A, Durr A, Brice A, Kremer B, van de
  Warrenburg BP, Schijvenaars MM, Heister A, Kwint M, Arts P, van der Wijst J,
  Veltman J, Kamsteeg EJ, Scheffer H, Knoers N. Targeted Next-Generation Sequencing
  of a 12.5 Mb Homozygous Region Reveals ANO10 Mutations in Patients with
  Autosomal-Recessive Cerebellar Ataxia. Am J Hum Genet. 2010 Nov 17
  Read more...
• Van der Zanden LF, van Rooij IA, Feitz WF, Knight J, Donders AR, Renkema KY,
  Bongers EM, Vermeulen SH, Kiemeney LA, Veltman JA, Arias-Vásquez A, Zhang X,
  Markljung E, Qiao L, Baskin LS, Nordenskjöld A, Roeleveld N, Franke B, Knoers NV.
  Common variants in DGKK are strongly associated with risk of hypospadias.
  Nat Genet. 2010 Nov 28
  Read more...
• Varadé J, Palomino-Morales R, Ortego-Centeno N, Díaz-Rubio M,
  Fernández-Gutiérrez B, González-Gay MA, Pascual-Salcedo D, Balsa A, Iglesias A,
  Gómez-García M, Witte T, Radstake TR, Coenen MJ, Urcelay E, Martín J. Analysis of
  the REL polymorphism rs13031237 in autoimmune diseases. Ann Rheum Dis. 2010 Sep 27
  Read more...
• Broen JC, Wolvers-Tettero IL, Geurts-van Bon L, Vonk MC, Coenen MJ, Lafyatis
  R, Radstake TR, Langerak AW. Skewed X chromosomal inactivation impacts T
  regulatory cell function in systemic sclerosis. Ann Rheum Dis. 2010 Aug 10
  Read more...
• McKinney C, Fanciulli M, Merriman ME, Phipps-Green A, Alizadeh BZ, Koeleman
  BP, Dalbeth N, Gow PJ, Harrison AA, Highton J, Jones PB, Stamp LK, Steer S,
  Barrera P, Coenen MJ, Franke B, van Riel PL, Vyse TJ, Aitman TJ, Radstake TR,
  Merriman TR. Association of variation in Fcgamma receptor 3B gene copy number
  with rheumatoid arthritis in Caucasian samples. Ann Rheum Dis. 2010
  Sep;69(9):1711-6
  Read more...
• Stahl EA, Raychaudhuri S, Remmers EF, Xie G, Eyre S, Thomson BP, Li Y,
  Kurreeman FA, Zhernakova A, Hinks A, Guiducci C, Chen R, Alfredsson L, Amos CI,
  Ardlie KG; BIRAC Consortium, Barton A, Bowes J, Brouwer E, Burtt NP, Catanese JJ, Coblyn J, Coenen MJ, Costenbader KH, Criswell LA, Crusius JB, Cui J, de Bakker
  PI, De Jager PL, Ding B, Emery P, Flynn E, Harrison P, Hocking LJ, Huizinga TW,
  Kastner DL, Ke X, Lee AT, Liu X, Martin P, Morgan AW, Padyukov L, Posthumus MD, Radstake TR, Reid DM, Seielstad M, Seldin MF, Shadick NA, Steer S, Tak PP,
  Thomson W, van der Helm-van Mil AH, van der Horst-Bruinsma IE, van der Schoot CE, van Riel PL, Weinblatt ME, Wilson AG, Wolbink GJ, Wordsworth BP; Wijmenga C, Karlson EW, Toes RE, de Vries N, Begovich AB, Worthington J, Siminovitch KA, Gregersen PK, Klareskog L, Plenge RM. Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. Nat Genet. 2010 Jun;42(6):508-14 
  Read more...
• Radstake TR, Gorlova O, Rueda B, Martin JE, Alizadeh BZ, Palomino-Morales R,
  Coenen MJ, Vonk MC, Voskuyl AE, Schuerwegh AJ, Broen JC, van Riel PL, van 't Slot R, Italiaander A, Ophoff RA, Riemekasten G, Hunzelmann N, Simeon CP, Ortego-Centeno N, González-Gay MA, González-Escribano MF; Airo P, van Laar J, Herrick A, Worthington J, Hesselstrand R, Smith V, de
  Keyser F, Houssiau F, Chee MM, Madhok R, Shiels P, Westhovens R, Kreuter A,
  Kiener H, de Baere E, Witte T, Padykov L, Klareskog L, Beretta L, Scorza R, Lie
  BA, Hoffmann-Vold AM, Carreira P, Varga J, Hinchcliff M, Gregersen PK, Lee AT,
  Ying J, Han Y, Weng SF, Amos CI, Wigley FM, Hummers L, Nelson JL, Agarwal SK,
  Assassi S, Gourh P, Tan FK, Koeleman BP, Arnett FC, Martin J, Mayes MD.
  Genome-wide association study of systemic sclerosis identifies CD247 as a new
  susceptibility locus. Nat Genet. 2010 May;42(5):426-9 
  Read more...
• Pavy S, Toonen EJ, Miceli-Richard C, Barrera P, van Riel PL, Criswell LA,
  Mariette X, Coenen MJ. Tumour necrosis factor alpha -308G->A polymorphism is not associated with response to TNFalpha blockers in Caucasian patients with rheumatoid arthritis: systematic review and meta-analysis. Ann Rheum Dis. 2010 Jun;69(6):1022-8 
  Read more...
• Rueda B, Gourh P, Broen J, Agarwal SK, Simeon C, Ortego-Centeno N, Vonk MC,
  Coenen M, Riemekasten G, Hunzelmann N, Hesselstrand R, Tan FK, Reveille JD,
  Assassi S, Garcia-Hernandez FJ, Carreira P, Camps M, Fernandez-Nebro A, Garcia de la Peña P, Nearney T, Hilda D, Gónzalez-Gay MA, Airo P, Beretta L, Scorza R, Radstake TR, Mayes MD, Arnett FC, Martin J. BANK1 functional variants are associated with susceptibility to diffuse systemic sclerosis in Caucasians. Ann Rheum Dis. 2010 Apr;69(4):700-5
  Read more...
• Wortmann SB, Kremer BH, Graham A, Willemsen MA, Loupatty FJ, Hogg SL, Engelke UF, Kluijtmans LA, Wanders RJ, Illsinger S, Wilcken B, Cruysberg JR, Das AM, Morava E, Wevers RA. 3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy. Neurology. 2010;75(12):1079-83.
  Read more...
• A theoretical molecular network for dyslexia: integrating available genetic findings. Poelmans G, Buitelaar JK, Pauls DL, Franke B.  Mol Psychiatry. 2010 Oct 19
  Read more...
• E Morava; RA. Wevers; V Cantagrel; LH. Hoefsloot; L Al-Gazali; J Schoots; A van Rooij; K Huijben; CM. A. van Ravenswaaij-Arts; MC. J. Jongmans; J Sykut-Cegielska; GF. Hoffmann; P Bluemel; M Adamowicz; J van Reeuwijk; BG. Ng; JE. H. Bergman; H van Bokhoven; C Korner; D Babovic-Vuksanovic; MA. Willemsen; J G. Gleeson; L Lehle; AP. M. de Brouwer; D J. Lefeber. A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism, Brain 2010
  Read more...
• Gilissen C, Arts HH, Hoischen A, Spruijt L, Mans DA, Arts P, van Lier B,Steehouwer M, van Reeuwijk J, Kant SG, Roepman R, Knoers NV, Veltman JA, Brunner HG. Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome. Am J Hum Genet. 2010 Sep 10;87(3):418-23.
  Read more...
• Acyl-CoA Dehydrogenase 9 Is Required for the Biogenesis of Oxidative Phosphorylation Complex I. Nouws J, Nijtmans L, Houten SM, van den Brand M, Huynen M, Venselaar H, Hoefs S, Gloerich J, Kronick J, Hutchin T, Willems P, Rodenburg R, Wanders R, van den Heuvel L, Smeitink J, Vogel RO. Cell Metab. 2010 Sep 8;12(3):283-94.
  Editorial preview: Assembling Complex I with ACAD9. Scheffler IE. Cell Metab. 2010 Sep 8;12(3):211-2.
  Read more...
• SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
  Vincent Cantagrel, Dirk J. Lefeber, Bobby G. Ng, Ziqiang Guan, Jennifer L. Silhavy, Stephanie L. Bielas, Ludwig Lehle, Hans Hombauer, Maciej Adamowicz, Ewa Swiezewska, Arjan P. De Brouwer, Peter Blumel, Jolanta Sykut-Cegielska, Scott Houliston, Dominika Swistun, Bassam R. Ali, William B. Dobyns, Dusica Babovic-Vuksanovic, Hans van Bokhoven, Ron A. Wevers, Christian R.H. Raetz, Hudson H. Freeze, Eva Morava, Lihadh Al-Gazali, and Joseph G. Gleeson
  Cell.2010.06.001
  Read more...
• Alternative splicing may contribute to time-dependent manifestation of inherited erythromelalgia
  Jin-Sung Choi, Xiaoyang Cheng, Edmund Foster, Andreas Leffler, Lynda Tyrrell, Rene H. M. te Morsche, Emmanuella M. Eastman, Henry J. Jansen, Kathrin Huehne, Carla Nau, Sulayman D. Dib-Hajj, Joost P. H. Drenth and Stephen G. Waxman. Oxford Journals Medicine Brain Volume 133, Number 6 Pp. 1823-1835
  Read more...
• Alexander Hoischen, Bregje W M van Bon, Christian Gilissen, Peer Arts, Bart van Lier, Marloes Steehouwer, Petra de Vries, Rick de Reuver, Nienke Wieskamp, Geert Mortier, Koen Devriendt, Marta Z Amorim, Nicole Revencu, Alexa Kidd, Mafalda Barbosa, Anne Turner, Janine Smith, Christina Oley, Alex Henderson, Ian M Hayes, Elizabeth M Thompson, Han G Brunner, Bert B A de Vries, Joris A Veltman. De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Nature Genetics 42, 483–485 (2010) 
  Read more... 
• Smeitink Jan, Metabolism. Gliomas, and IDH1. The New England Journal of Medicine, Volume 362:1144-1145  March 25, 2010
  Read more...
• Katharina F. Ettwig, Margaret K. Butler, Denis Le Paslier, Eric Pelletier, Sophie Mangenot, Marcel M. M. Kuypers, Frank Schreiber, Bas E. Dutilh, Johannes Zedelius, Dirk de Beer, Jolein Gloerich, Hans J. C. T. Wessels, Theo van Alen, Francisca Luesken, Ming L. Wu, Katinka T. van de Pas-Schoonen, Huub J. M. Op den Camp, Eva M. Janssen-Megens, Kees-Jan Francoijs, Henk Stunnenberg, Jean Weissenbach, Mike S. M. Jetten & Marc Strous. Nitrite-driven anaerobic methane oxidation by oxygenic bacteria. Nature 464, 543-548, 25 March 2010
  Read more... 
• Pain perception is altered by a nucleotide polymorphism in SCN9A
  Frank Reimann, James J. Cox, Inna Belfer, Luda Diatchenko, Dmitri V. Zaykin, Duncan P. McHale, Joost P. H. Drenth, Feng Dai, Jerry Wheeler, Frances Sanders, Linda Wood, Tian-Xia Wu, Jaro Karppinen, Lone Nikolajsen, Minna Männikkö, Mitchell B. Max, Carly Kiselycznyk, Minakshi Poddar, Rene H.M. te Morsche, Shad Smith, Dustin Gibson, Anthi Kelempisioti, William Maixner, Fiona M. Gribble, and C. Geoffrey Woods,
  PNAS, Edited by Stephen G. Waxman, Yale Medical School, New Haven, CT, January 29, 2010
  Read more...