High ranking publications 2009 2009:
Oti M, Huynen MA, Brunner HG. The biological coherence of human phenome databases.Am J Hum Genet. 2009 Dec;85(6):801-8.
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Steinfeld R, Grapp M, Kraetzner R, Dreha-Kulaczewski S, Helms G, Dechent P,Wevers R, Grosso S, Gärtner J. Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism. Am J Hum Genet. 2009 Sep;85(3):354-63. PubMed PMID: 19732866
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Lefeber DJ, Schönberger J, Morava E, Guillard M, Huyben KM, Verrijp K,
Grafakou O, Evangeliou A, Preijers FW, Manta P, Yildiz J, Grünewald S, Spilioti M, van den Elzen C, Klein D, Hess D, Ashida H, Hofsteenge J, Maeda Y, van den Heuvel L, Lammens M, Lehle L, Wevers RA. Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies. Am J Hum Genet. 2009 Jul;85(1):76-86. Epub 2009 Jul 2. PubMed PMID: 19576565; PubMed Central PMCID: PMC2706967.
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Mochel F, Yang B, Barritault J, Thompson JN, Engelke UF, McNeill NH, Benko WS,Kaneski CR, Adams DR, Tsokos M, Abu-Asab M, Huizing M, Seguin F, Wevers RA, Ding J, Verheijen FW, Schiffmann R. Free sialic acid storage disease without sialuria. Ann Neurol. 2009 Jun;65(6):753-7. PubMed PMID: 19557856.
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Hucthagowder V, Morava E, Kornak U, Lefeber DJ, Fischer B, Dimopoulou A,
Aldinger A, Choi J, Davis EC, Abuelo DN, Adamowicz M, Al-Aama J, Basel-Vanagaite L, Fernandez B, Greally MT, Gillessen-Kaesbach G, Kayserili H, Lemyre E, Tekin M,Türkmen S, Tuysuz B, Yüksel-Konuk B, Mundlos S, Van Maldergem L, Wevers RA, Urban Z. Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival. Hum Mol Genet. 2009 Jun 15;18(12):2149-65. Epub 2009 Mar 25. PubMed PMID: 19321599; PubMed Central PMCID: PMC2685755.
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Mochel F, Sedel F, Vanderver A, Engelke UF, Barritault J, Yang BZ, Kulkarni B,Adams DR, Clot F, Ding JH, Kaneski CR, Verheijen FW, Smits BW, Seguin F, Brice A,Vanier MT, Huizing M, Schiffmann R, Durr A, Wevers RA. Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA). Brain. 2009 Mar;132(Pt 3):801-9. Epub 2009 Jan 19. PubMed PMID: 19153153; PubMed Central PMCID: PMC2724924.
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Wortmann SB, Rodenburg RJ, Jonckheere A, de Vries MC, Huizing M, Heldt K, van den Heuvel LP, Wendel U, Kluijtmans LA, Engelke UF, Wevers RA, Smeitink JA,Morava E. Biochemical and genetic analysis of 3-methylglu¬taconic aciduria type IV: a diagnostic strategy. Brain. 2009 Jan;132(Pt 1):136-46. Epub 2008 Nov 16.PubMed PMID: 19015156.
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Kempers MJE, Lenders JWM, Van Outheusden L, Van der Wilt GJ, Schultze Kool LJ, Hermus ARMM, Deinum J.
Systematic Review: Diagnostic Procedures to Differentiate Unilateral From Bilateral Adrenal Abnormality in Primary Aldosteronism.
Annals of Internal Medicine 2009;151:329-337.
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Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. Am J Hum Genet, Epub ahead of print (IF 12.6).
Thiadens AA, den Hollander AI, Roosing S, Nabuurs SB, Zekveld-Vroon RC, Collin RW, De Baere E, Koenekoop RK, van Schooneveld MJ, Strom TM, van Lith-Verhoeven JJ, Lotery AJ, van Moll-Ramirez N, Leroy BP, van den Born LI, Hoyng CB, Cremers FPM, Klaver CC.
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Forging links between human mental retardation-associated CNVs and mouse gene knockout models. Webber C, Hehir-Kwa JY, Nguyen DQ, de Vries BB, Veltman JA*, Ponting CP*. * Joint Senior authors. PLoS Genet. 2009. PMID: 19557186
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Mochel F, Sedel F, Vanderver A, Engelke UF, Barritault J, Yang BZ, Kulkarni B,Adams DR, Clot F, Ding JH, Kaneski CR, Verheijen FW, Smits BW, Seguin F, Brice A,Vanier MT, Huizing M, Schiffmann R, Durr A, Wevers RA. Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA). Brain. 2009 Mar;132(Pt 3):801-9.
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Mochel F, Yang B, Barritault J, Thompson JN, Engelke UF, McNeill NH, Benko WS,Kaneski CR, Adams DR, Tsokos M, Abu-Asab M, Huizing M, Seguin F, Wevers RA, Ding J, Verheijen FW, Schiffmann R. Free sialic acid storage disease without sialuria. Ann Neurol. 2009 Mar 18;65(6):753-757.
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Intracellular Activation of Vasopressin V2 Receptor Mutants in Nephrogenic Diabetes Insipidus by Non-peptide Agonists. Joris H. Robben, Marleen L.A. Kortenoeven, Mozes Sze, Chris Yae, Graeme Milligan, Viola Oorschot, Judith Klumperman, Nine V.A.M. Knoers, Peter M.T. Deen. PNaS on line, July 6th 2009.
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Lefeber DJ, Schönberger J, Morava E, Guillard M, Huyben KM, Verrijp K, Grafakou O, Evangeliou A, Preijers FW, Manta P, Yildiz J, Grünewald S, Spilioti M, van den Elzen C, Klein D, Hess D, Ashida H, Hofsteenge J, Maeda Y, van den Heuvel L, Lammens M, Lehle L, Wevers RA. Deficiency of Dol-P-Man Synthase Subunit DPM3 Bridges the Congenital Disorders of Glycosylation with the Dystroglycanopathies. Am J Hum Genet. 2009 Jul 1
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Glaudemans B, van der Wijst J, Scola RH, Lorenzoni PJ, Heister A, van der Kemp
AW, Knoers NV, Hoenderop JG, Bindels RJ. A missense mutation in the Kv1.1
voltage-gated potassium channel-encoding gene KCNA1 is linked to human autosomal
dominant hypomagnesemia. J Clin Invest. 2009 Apr;119(4):936-42.
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García EB, Knoers NV. Gardner's syndrome (familial adenomatous polyposis): a
cilia-related disorder. Lancet Oncol. 2009 Jul;10(7):727-735.
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First contiguous gene deletion in a patiënt with mitochondrial complex I deficiency.
Contiguous gene deletion of ELOVL7, ERCC8 and NDUFAF2 in a patient with a fatal multisystem disorder. Rolf J.R.J. Janssen, Felix Distelmaier, Roel Smeets, Tessa Wijnhoven, Elsebet Østergaard, Nicolaas G.J. Jaspers, Anja Raams, Stephan Kemp,
Richard J.T. Rodenburg, Peter H.M.G. Willems, Lambert P.W.J. van den Heuvel,
Jan A.M. Smeitink and Leo G.J. Nijtmans
Human Molecular Genetics, Doi:10.1093/hmg/ddp276 Advance Access published
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Cees Noordam, M.D., Ph.D., Vivek Dhir, Ph.D., Joanne C. McNelis, B.Med.Sc.,Florian Schlereth, B.Med.Sc., Neil A. Hanley, M.D., Ph.D., Nils Krone, M.D., Jan A. Smeitink, M.D., Ph.D., Roel Smeets, B.Sc., Fred C.G.J. Sweep, Ph.D.,Hedi L. Claahsen-van der Grinten, M.D., Ph.D., and Wiebke Arlt, M.D., D.Sc.
Inactivating PAPSS2 Mutations in a Patient with Premature Pubarche. N Engl J Med, may 28, 2009 Volume 360:2310-2318 number 22
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Mutations in NDUFAF3 (C3ORF60), Encoding an NDUFAF4 (C6ORF66)-Interacting Complex I Assembly Protein, Cause Fatal Neonatal Mitochondrial Disease. Ann Saada* , Rutger O. Vogel* , Saskia J. Hoefs, Mariël A. van den Brand , Hans J. Wessels , Peter H. Willems , Hanka Venselaar , Avraham Shaag , Flora Barghuti , Orit Reish , Mordechai Shohat , Martijn A. Huynen , Jan A.M. Smeitink , Lambert P. van den Heuvel and Leo G. Nijtmans. * equally contributed. The American Journal of Human Genetics, DOI: 10.1016/j.ajhg.2009.04.020.
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Distelmaier F, Koopman WJ, van den Heuvel LP, Rodenburg RJ, Mayatepek E, Willems PH, Smeitink JA. Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease. Brain. 2009 Apr;132(Pt 4):833-42. Epub 2009 March 31
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Vishwanathan Hucthagowder, Eva Morava, Uwe Kornak, Dirk J. Lefeber, Björn Fischer, Aikaterini Dimopoulou, Annika Aldinger, Jiwon Choi, Elaine C. Davis, Dianne N. Abuelo, Maciej Adamowicz, Jumana Al-Aama, Lina Basel-Vanagaite, Bridget Fernandez, Marie T. Greally, Gabriele Gillessen-Kaesbach, Hulya Kayserili, Emmanuelle Lemyre, Mustafa Tekin, Seval Türkmen, Beyhan Tuysuz, Berrin Yüksel-Konuk, Stefan Mundlos, Lionel Van Maldergem, Ron A. Wevers, and Zsolt Urban
Loss-of-Function Mutations in ATP6V0A2 Impair Vesicular Trafficking, Tropoelastin Secretion, and Cell Survival
Hum. Mol. Genet., Advance Access published on March 25, 2009; doi: doi:10.1093/hmg/ddp148
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A missense mutation in KCNA1 encoding the voltage-gated potassium channel Kv1.1 causes autosomal dominant hypomagnesemia. Bob Glaudemans*, Jenny van der Wijst*, Rosana H. Scola, Paulo J. Lorenzoni, Angelien Heister, AnneMiete W. van der Kemp, Nine V. Knoers, Joost G. Hoenderop, René J. Bindels. J Clin Invest 119: March 23, 2009
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Versleijen Michelle WJ, Huisman-de Waal Getty, Kock Mayke C, Elferink Anne, van Rossum Leo G, Feuth Ton, Willems Martine C, Wanten Geert JA. Arterio-venous fistulae as an alternative to central venous catheters for delivery of long-term Home Parenteral Nutrition. Gastroenterology: Volume 136, Issue 5, Pages 1577-1584 (May 2009)
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