PUBLICATIONS 2012

 

Bierau J, Bakker JA, Schippers JA, Grashorn JA, Lindhout M, Lowe SH, Paulussen AD, Verbon A. Erythrocyte Inosine Triphosphatase Activity Is Decreased in HIV-Seropositive Individuals. PLoS One. 2012;7(1):e30175. IF: 4.411.

Bogie JF, Timmermans S, Huynh-Thu VA, Irrthum A, Smeets HJ, Gustafsson JÅ, Steffensen KR, Mulder M, Stinissen P, Hellings N, Hendriks JJ. Myelin-derived lipids modulate macrophage activity by liver X receptor activation. PLoS One. 2012;7(9):e44998. IF: 4.092

Borst B van den, Souren NY, Loos RJ, Paulussen AD, Derom C, Schols AM, Zeegers MP.  Genetics of maximally attained lung function: A role for leptin? Respir Med. 2012 Feb;106(2):235-42  IF: 2.525

Bosch BJ van den, Gerards M, Sluiter W, Stegmann AP, Jongen EL, Hellebrekers DM, Oegema R, Lambrichs EH, Prokisch H, Danhauser K, Schoonderwoerd K, de Coo IF, Smeets HJ. Defective NDUFA9 as a novel cause of neonatally fatal complex I disease. J Med Genet. 2012 Jan;49(1):10-5. IF: 7.037

Brandão RD, van Roozendaal KE, Tserpelis D, Caanen B, García EG, Blok MJ. BRCA1 c.4987-3C>G is a pathogenic mutation. Breast Cancer Res Treat. 2012 Jan;131(2):723-5. IF: 4.859

Brandão RD, Tserpelis D, Gómez García E, Blok MJ. Detection of exon skipping events in BRCA1 RNA using MLPA kit P002. Mol Biol Rep. 2012 Jul;39(7):7429-33. IF: 1.875

DCCT/EDIC Research Group, de Boer IH, Sun W, Cleary PA, Lachin JM, Molitch ME, Steffes MW, Zinman B. Lindsey, P. Intensive diabetes therapy and glomerular filtration rate in type 1 diabetes. N Engl J Med. 2011 Dec 22;365(25):2366-76. IF: 53.298

Elamin E, Jonkers D, Juuti-Uusitalo K, van Ijzendoorn S, Troost F, Duimel H, Broers J, Verheyen F, Dekker J, Masclee A. Effects of ethanol and acetaldehyde on tight junction integrity: in vitro study in a three dimensional intestinal epithelial cell culture model. PLoS One. 2012;7(4) IF: 4.092

Faber CG, Lauria G, Merkies IS, Cheng X, Han C, Ahn HS, Persson AK, Hoeijmakers JG, Gerrits MM, Pierro T, Lombardi R, Kapetis D, Dib-Hajj SD, Waxman SG. Gain-of-function Nav1.8 mutations in painful neuropathy. Proc Natl Acad Sci U S A. 2012 Nov 20;109(47):19444-9. IF: 9.681

Faber CG, Hoeijmakers JG, Ahn HS, Cheng X, Han C, Choi JS, Estacion M, Lauria G, Vanhoutte EK, Gerrits MM, Dib-Hajj S, Drenth JP, Waxman SG, Merkies IS. Gain of function Na(V) 1.7 mutations in idiopathic small fiber neuropathy. Ann Neurol. 2012 Jan;71(1):26-39.  IF: 9.317.

Gilissen LP, Wong DR, Engels LG, Bierau J, Bakker JA, Paulussen AD, Romberg-Camps MJ, Stronkhorst A, Bus P, Bos LP, Hooymans PM, Stockbrügger RW, Neef C, Masclee AA. Therapeutic drug monitoring of thiopurine metabolites in adult thiopurine tolerant IBD patients on maintenance therapy. J Crohns Colitis. 2012 Jul;6(6):698-707. IF: 2.566

Halbach NS, Smeets EE, van den Braak N, van Roozendaal KE, Blok RM, Schrander-Stumpel CT, Frijns JP, Maaskant MA, Curfs LM. Genotype-phenotype relationships as prognosticators in Rett syndrome should be handled with care in clinical practice. Am J Med Genet A. 2012 Feb;158A(2):340-50. IF: 2.404

Han C, Hoeijmakers JG, Liu S, Gerrits MM, Te Morsche RH, Lauria G, Dib-Hajj SD, Drenth JP, Faber CG, Merkies IS, Waxman SG. Functional profiles of SCN9A variants in dorsal root ganglion neurons and superior cervical ganglion neurons correlate with autonomic symptoms in small fibre neuropathy. Brain. 2012 Sep;135(Pt 9):2613-28. IF: 9.457

Han C, Hoeijmakers JG, Ahn HS, Zhao P, Shah P, Lauria G, Gerrits MM, Te Morsche RH, Dib-Hajj SD, Drenth JP, Faber CG, Merkies IS, Waxman SG. Nav1.7-related small fiber neuropathy: Impaired slow-inactivation and DRG neuron hyperexcitability. Neurology. 2012 May 22;78(21):1635-43. IF: 8.312

Hellebrekers DM, Wolfe R, Hendrickx AT, de Coo IF, de Die CE, Geraedts JP, Chinnery PF, Smeets HJ. PGD and heteroplasmic mitochondrial DNA point mutations: a systematic review estimating the chance of healthy offspring. Hum Reprod Update 2012 Jul;18(4):341-9.  IF: 9.234

Hermans MC, Faber CG, Bekkers SC, de Die-Smulders CE, Gerrits MM, Merkies IS, Snoep G, Pinto YM, Schalla S. Structural and functional cardiac changes in myotonic dystrophy type 1: a cardiovascular magnetic resonance study. J Cardiovasc Magn Reson. 2012 Jul 24;14(1):48. IF: 3.717

Hoeijmakers JG, Merkies IS, Gerrits MM, Waxman SG, Faber CG. Genetic aspects of sodium channelopathy in small fiber neuropathy. Clin Genet. 2012 Oct;82(4):351-8. IF: 2.942

Hoeijmakers JG, Han C, Merkies IS, Macala LJ, Lauria G, Gerrits MM, Dib-Hajj SD, Faber CG, Waxman SG. Small nerve fibres, small hands and small feet: a new syndrome of pain, dysautonomia and acromesomelia in a kindred with a novel NaV1.7 mutation. Brain. 2012 Feb;135(Pt 2):345-58. IF: 9.232

Kevelam SH, van Harssel JJ, van der Zwaag B, Smeets HJ, Paulussen AD, Lichtenbelt KD. A patient with a mild holoprosencephaly spectrum phenotype and heterotaxy and a 1.3 Mb deletion encompassing GLI2. Am J Med Genet A. 2012 Jan;158A(1):166-73. IF: 2.404

Ludidi S, Conchillo JM, Keszthelyi D, Koning CJ, Vanhoutvin SA, Lindsey PJ, Leufkens AM, Kruimel JW, Jonkers DM, Masclee AA. Does meal ingestion enhance sensitivity of visceroperception assessment in irritable bowel syndrome? Neurogastroenterol Motil. 2012 Jan;24(1):47-e3. IF: 3.349

Marion V, Sankaranarayanan S, de Theije C, van Dijk P, Lindsey P, Lamers MC, Harding HP, Ron D, Lamers WH, Köhler SE. Arginine deficiency causes runting in the suckling period by selectively activating the stress kinase GCN2. J Biol Chem. 2011 Mar 18;286(11):8866-74. IF: 5.117

Millot GA, Carvalho MA, Caputo SM, Vreeswijk MP, Brown MA, Webb M, Rouleau E, Neuhausen SL, Hansen TV, Galli A, Brandão RD, Blok MJ, Velkova A, Couch FJ, Monteiro AN. A guide for functional analysis of BRCA1 variants of uncertain significance. Hum Mutat. 2012 Nov;33(11):1526-1537. IF: 5.686

Nagtzaam IF, Stegmann AP, Steijlen PM, Herbergs J, van Lent-Albrechts JA, van Geel M, van Steensel MA. Clinically manifest X-linked recessive ichthyosis in a female due to a homozygous interstitial 1.6Mb deletion of Xp22.31. Br J Dermatol. 2012 Apr;166(4):905-7. IF: 4.353

Rij MC van, De Rademaeker M, Moutou C, Dreesen JC, De Rycke M, Liebaers I, Geraedts JP, De Die-Smulders CE, Viville S. Preimplantation genetic diagnosis (PGD) for Huntington's disease: the experience of three European centres. Eur J Hum Genet. 2012  Apr;20(4):368-75. IF: 4.380

Rij MC van, De Rademaeker M, Moutou C, Dreesen JC, De Rycke M, Liebaers I, Geraedts JP, De Die-Smulders CE, Viville S. Preimplantation genetic diagnosis (PGD) for Huntington's disease: the experience of three European centres. Eur J Hum Genet. 2012 Sep;20(9):1010. IF: 4.380

Schwenk RW, Angin Y, Steinbusch LK, Dirkx E, Hoebers N, Coumans WA, Bonen A, Broers JL, van Eys GJ, Glatz JF, Luiken JJ. Overexpression of Vesicle-associated Membrane Protein (VAMP) 3, but Not VAMP2, Protects Glucose Transporter (GLUT) 4 Protein Translocation in an in Vitro Model of Cardiac Insulin Resistance. J Biol Chem. 2012 Oct 26;287(44):37530-9.  IF: 4.773

van Spaendonck-Zwarts KY, van der Kooi AJ, van den Berg MP, Ippel EF, Boven LG, Yee WC, van den Wijngaard A, Brusse E, Hoogendijk JE, Doevendans PA, de Visser M, Jongbloed JD, van Tintelen JP. Recurrent and founder mutations in the Netherlands: the cardiac phenotype of DES founder mutations p.S13F and p.N342D. Neth Heart J. 2012 May;20(5):219-28. IF: 1.438

Tienen FH van, Praet SF, de Feyter HM, van den Broek NM, Lindsey PJ, Schoonderwoerd KG, de Coo IF, Nicolay K, Prompers JJ, Smeets HJ, van Loon LJ. Physical Activity Is the Key Determinant of Skeletal Muscle Mitochondrial Function in Type 2 Diabetes. J Clin Endocrinol Metab. 2012 Sep;97(9):3261-9.
IF: 5.967

Uum CM van, Stevens SJ, Dreesen JC, Drüsedau M, Smeets HJ, Hollanders-Crombach B, Die-Smulders CE, Geraedts JP, Engelen JJ, Coonen E. SNP array-based copy number and genotype analyses for preimplantation genetic diagnosis of human unbalanced translocations. Eur J Hum Genet. 2012 Sep;20(9):938-44. IF: 4.380

Vanhoutvin SA, Troost FJ, Kilkens TO, Lindsey PJ, Jonkers DM, Venema K, Masclee A, Brummer RJ. Alternative procedure to shorten rectal barostat procedure for the assessment of rectal compliance and visceral perception: a feasibility study. J Gastroenterol. 2012 Aug;47(8):896-903. IF:3.610

Voets AM, Oberije C, Struijk RB, Reymen B, Ruyck KD, Thierens H, Vandecasteele K, Neve WD, Houben R, Ruysscher DD, Smeets HJ, Lambin P. No association between TGF-β1 polymorphisms and radiation-induced lung toxicity in a European cohort of lung cancer patients. Radiother Oncol. 2012 Dec;105(3):296-8. IF: 5.580

Voets AM, Lindsey PJ, Vanherle SJ, Timmer ED, Esseling JJ, Koopman WJ, Willems PH, Schoonderwoerd GC, De Groote D, Poll-The BT, de Coo IF, Smeets HJ. Patient-derived fibroblasts indicate oxidative stress status and may justify antioxidant therapy in OXPHOS disorders. Biochim Biophys Acta. 2012 Nov;1817(11):1971-8.  IF: 4.579

Voets AM, Huigsloot M, Lindsey PJ, Leenders AM, Koopman WJ, Willems PH, Rodenburg RJ, Smeitink JA, Smeets HJ. Transcriptional changes in OXPHOS complex I deficiency are related to anti-oxidant pathways and could explain the disturbed calcium homeostasis. Biochim Biophys Acta. 2012 Jul;1822(7):1161-8. IF: 4.579