Publications 2017

Publications 2014

MOLECULAR GENETICS

Abdurrachim D, Ciapaite J, Wessels B, Nabben M, Luiken JJ, Nicolay K, Prompers JJ. Cardiac diastolic dysfunction in high-fat diet fed mice is associated with lipotoxicity without impairment of cardiac energetics in vivo. Biochim Biophys Acta. 2014 Oct;1842(10):1525-37.

van den Akker GG, Surtel DA, Cremers A, Rodrigues-Pinto R, Richardson SM, Hoyland JA, van Rhijn LW, Welting TJ, Voncken JW. Novel immortal human cell lines reveal subpopulations in the nucleus pulposus. Arthritis Res Ther. 2014 Jun 27;16(3):R135.

Angin Y, Schwenk RW, Nergiz-Unal R, Hoebers N, Heemskerk JW, Kuijpers MJ, Coumans WA, van Zandvoort MA, Bonen A, Neumann D, Glatz JF, Luiken JJ. Calcium signaling recruits substrate transporters GLUT4 and CD36 to the sarcolemma without increasing cardiac substrate uptake. Am J Physiol Endocrinol Metab. 2014 Jul 15;307(2):E225-36.

Bartuzi P, Wijshake T, Dekker DC, Fedoseienko A, Kloosterhuis NJ, Youssef SA, Li H, Shiri-Sverdlov R, Kuivenhoven JA, de Bruin A, Burstein E, Hofker MH, van de Sluis B. A cell-type-specific role for murine Commd1 in liver inflammation.Biochim Biophys Acta. 2014 Nov;1842(11):2257-65.

van den Beucken T, Koch E, Chu K, Rupaimoole R, Prickaerts P, Adriaens M, Voncken JW, Harris AL, Buffa FM, Haider S, Starmans MH, Yao CQ, Ivan M, Ivan C, Pecot CV, Boutros PC, Sood AK, Koritzinsky M, Wouters BG. Hypoxia promotes stem cell phenotypes and poor prognosis through epigenetic regulation of DICER. Nat Commun. 2014 Oct 29;5:5203.

van Bragt KA, Nasrallah HM, Kuiper M, Luiken JJ, Schotten U, Verheule S. Atrial supply-demand balance in healthy adult pigs: coronary blood flow, oxygen extraction, and lactate production during acute atrial fibrillation. Cardiovasc Res. 2014 Jan 1;101(1):9-19.

Bruins Slot MH, Rutten FH, Van der Heijden GJ, Doevendans PA, Mast EG, Bredero AC, Van der Spoel OP, Glatz JFC, Hoes AW. De H-FABP sneltest bij verdenking op acuut coronair syndroom. Huisarts & Wetenschap. 2014;57: 338-341.

Bullen JW, Balsbaugh JL, Chanda D, Shabanowitz J, Hunt DF, Neumann D, Hart GW. Cross-talk between two essential nutrient-sensitive enzymes: O-GlcNAc transferase (OGT) and AMP-activated protein kinase (AMPK). J Biol Chem. 2014 Apr 11;289(15):10592-606.

Dirkx E, van Eys GJ, Schwenk RW, Steinbusch LK, Hoebers N, Coumans WA, Peters T, Janssen BJ, Brans B, Vogg AT, Neumann D, Glatz JF, Luiken JJ. Protein kinase-D1 overexpression prevents lipid-induced cardiac insulin resistance. J Mol Cell Cardiol. 2014 Nov;76:208-17.

Funke A, Schreurs M, Aparicio-Vergara M, Sheedfar F, Gruben N, Kloosterhuis NJ, Shiri-Sverdlov R, Groen AK, van de Sluis B, Hofker MH, Koonen DP. Cholesterol-induced hepatic inflammation does not contribute to the development of insulin resistance in male LDL receptor knockout mice.Atherosclerosis. 2014 Feb;232(2):390-6.

Gabriels K, Hoving S, Gijbels MJ, Pol JF, te Poele JA, Biessen EA, Daemen MJ, Stewart FA, Heeneman S. Irradiation of existing atherosclerotic lesions increased inflammation by favoring pro-inflammatory macrophages. Radiother Oncol. 2014 Mar;110(3):455-60.

Glatz JFC, Renneberg R. Added value of heart-type fatty acid-binding protein as plasma biomarker for the early evaluation of suspected acute coronary syndrome. Clin Lipidol. 2014; 9:205-220.

Glatz JFC, Luiken JJFP. Control of myocardial fatty acid uptake. In: Cardiac Energy Metabolism in Health and Disease. Advances in Biochemistry in Health and Disease 11. G.D. Lopaschuk, N.S. Dhalla editors. Springer Publishers, pp. 49-67, 2014.   

Gruben N, Shiri-Sverdlov R, Koonen DP, Hofker MH. Nonalcoholic fatty liver disease: A main driver of insulin resistance or a dangerous liaison? Biochim Biophys Acta. 2014 Nov;1842(11):2329-2343.

Hanssen NM, Brouwers O, Gijbels MJ, Wouters K, Wijnands E, Cleutjens JP, De Mey JG, Miyata T, Biessen EA, Stehouwer CD, Schalkwijk CG. Glyoxalase 1 overexpression does not affect atherosclerotic lesion size and severity in ApoE-/- mice with or without diabetes. Cardiovasc Res. 2014 Oct 1;104(1):160-70.

Hanssen NM, Wouters K, Huijberts MS, Gijbels MJ, Sluimer JC, Scheijen JL, Heeneman S, Biessen EA, Daemen MJ, Brownlee M, de Kleijn DP, Stehouwer CD, Pasterkamp G, Schalkwijk CG. Higher levels of advanced glycation endproducts in human carotid atherosclerotic plaques are associated with a rupture-prone phenotype. Eur Heart J. 2014 May;35(17):1137-46.

Hendrikx T, Walenbergh SM, Hofker MH, Shiri-Sverdlov R. Lysosomal cholesterol accumulation: driver on the road to inflammation during atherosclerosis and non-alcoholic steatohepatitis. Obes Rev. 2014 May;15(5):424-33.

Hoeksema MA, Gijbels MJ, Van den Bossche J, van der Velden S, Sijm A, Neele AE, Seijkens T, Stöger JL, Meiler S, Boshuizen MC, Dallinga-Thie GM, Levels JH, Boon L, Mullican SE, Spann NJ, Cleutjens JP, Glass CK, Lazar MA, de Vries CJ, Biessen EA, Daemen MJ, Lutgens E, de Winther MP. Targeting macrophage Histone deacetylase 3 stabilizes atherosclerotic lesions. EMBO Mol Med. 2014 Jul 9;6(9):1124-32.

Jetten N, Roumans N, Gijbels MJ, Romano A, Post MJ, de Winther MP, van der Hulst RR, Xanthoulea S. Wound administration of M2-polarized macrophages does not improve murine cutaneous healing responses. PLoS One. 2014 Jul 28;9(7):e102994.

Jetten N, Verbruggen S, Gijbels MJ, Post MJ, De Winther MP, Donners MM. Anti-inflammatory M2, but not pro-inflammatory M1 macrophages promote angiogenesis in vivo. Angiogenesis. 2014 Jan;17(1):109-18.

Klaassen EM, van de Kant KD, Soeteman M, Damoiseaux J, van Eys G, Stobberingh EE, Stelma FF, Quaak M, van Schayck OC, Jöbsis Q, Dompeling E. CD14/Toll-like receptors interact with bacteria and regulatory T-cells in the development of childhood asthma. Eur Respir J. 2014 Sep;44(3):799-802.

Klaassen EM, van de Kant KD, Jöbsis Q, Penders J, van Schooten FJ, Quaak M, den Hartog GJ, Koppelman GH, van Schayck CP, van Eys G, Dompeling E. Integrative genomic analysis identifies a role for intercellular adhesion molecule 1 in childhood asthma. Pediatr Allergy Immunol. 2014 Mar;25(2):166-72.

Maas T, Nieuwhof C, Passos VL, Robertson C, Boonen A, Landewé RB, Voncken JW, Knottnerus JA, Damoiseaux JG. Transgenerational occurrence of allergic disease and autoimmunity: general practice-based epidemiological research. Prim Care Respir J. 2014 Mar;23(1):14-21.

Marsch E, Theelen TL, Demandt JA, Jeurissen M, van Gink M, Verjans R, Janssen A, Cleutjens JP, Meex SJ, Donners MM, Haenen GR, Schalkwijk CG, Dubois LJ, Lambin P, Mallat Z, Gijbels MJ, Heemskerk JW, Fisher EA, Biessen EA, Janssen BJ, Daemen MJ, Sluimer JC. Reversal of hypoxia in murine atherosclerosis prevents necrotic core expansion by enhancing efferocytosis. Arterioscler Thromb Vasc Biol. 2014 Dec;34(12):2545-53.

Michel SA, Vogels RR, Bouvy ND, Knetsch ML, van den Akker NM, Gijbels MJ, van der Marel C, Vermeersch J, Molin DG, Koole LH. Utilization of flax fibers for biomedical applications. J Biomed Mater Res B Appl Biomater. 2014 Apr;102(3):477-87.

Nabben M, van Bree BW, Lenaers E, Hoeks J, Hesselink MK, Schaart G, Gijbels MJ, Glatz JF, da Silva GJ, de Windt LJ, Tian R, Mike E, Skapura DG, Wehrens XH, Schrauwen P. Lack of UCP3 does not affect skeletal muscle mitochondrial function under lipid-challenged conditions, but leads to sudden cardiac death. Basic Res Cardiol. 2014 Nov;109(6):447.

Ohno Y, Saeki K, Yasunaga S, Kurogi T, Suzuki-Takedachi K, Shirai M, Mihara K, Yoshida K, Voncken JW, Ohtsubo M, Takihara Y. Transcription of the Geminin gene is regulated by a negative-feedback loop. Mol Biol Cell. 2014 Apr;25(8):1374-83.

van Oort MM, Drost R, Janβen L, Van Doorn JM, Kerver J, Van der Horst DJ, Luiken JJ, Rodenburg KC. Each of the four intracellular cysteines of CD36 is essential for insulin- or AMP-activated protein kinase-induced CD36 translocation. Arch Physiol Biochem. 2014Feb;120(1):40-9.

Plat J, Theuwissen E, Husche C, Lütjohann D, Gijbels MJ, Jeurissen M, Shiri-Sverdlov R, van der Made I, Mensink RP. Oxidised plant sterols as well as oxycholesterol increase the proportion of severe atherosclerotic lesions in female LDL receptor+/ - mice. Br J Nutr. 2014 Jan 14;111(1):64-70.

Plat J, Hendrikx T, Bieghs V, Jeurissen ML, Walenbergh SM, van Gorp PJ, De Smet E, Konings M, Vreugdenhil AC, Guichot YD, Rensen SS, Buurman WA, Greve JW, Lütjohann D, Mensink RP, Shiri-Sverdlov R. Protective role of plant sterol and stanol esters in liver inflammation: insights from mice and humans. PLoS One. 2014 Oct 30;9(10):e110758.

Schonewille M, Brufau G, Shiri-Sverdlov R, Groen AK, Plat J. Serum TG-lowering properties of plant sterols and stanols are associated with decreased hepatic VLDL secretion. J Lipid Res. 2014 Dec;55(12):2554-61.

Schreinemacher MH, van Barneveld KW, Peeters E, Miserez M, Gijbels MJ, Greve JW, Bouvy ND. Adhesions to sutures, tackers, and glue for intraperitoneal mesh fixation: an experimental study. Hernia. 2014 Dec;18(6):865-72.

Segers FM, Verdam FJ, de Jonge C, Boonen B, Driessen A, Shiri-Sverdlov R, Bouvy ND, Greve JW, Buurman WA, Rensen SS. Complement alternative pathway activation in human nonalcoholic steatohepatitis.PLoS One. 2014 Oct 9;9(10):e110053.

Streng AS, Jacobs LH, Schwenk RW, Cardinaels EP, Meex SJ, Glatz JF, Wodzig WK, van Dieijen-Visser MP. Cardiac troponin in ischemic cardiomyocytes: intracellular decrease before onset of cell death. Exp Mol Pathol. 2014 Jun;96(3):339-45.

Tilstam PV, Gijbels MJ, Habbeddine M, Cudejko C, Asare Y, Theelen W, Zhou B, Döring Y, Drechsler M, Pawig L, Simsekyilmaz S, Koenen RR, de Winther MP, Lawrence T, Bernhagen J, Zernecke A, Weber C, Noels H. Bone marrow-specific knock-in of a non-activatable Ikkα kinase mutant influences haematopoiesis but not atherosclerosis in Apoe-deficient mice. PLoS One. 2014 Feb 3;9(2):e87452.

Wang Y, Parlevliet ET, Geerling JJ, van der Tuin SJ, Zhang H, Bieghs V, Jawad AH, Shiri-Sverdlov R, Bot I, de Jager SC, Havekes LM, Romijn JA, Willems van Dijk K, Rensen PC. Exendin-4 decreases liver inflammation and atherosclerosis development simultaneously by reducing macrophage infiltration.Br J Pharmacol. 2014 Feb;171(3):723-34.

Willemsen RTA, Buntinx F, Winkens B, Glatz JF, Dinant GJ, The ‘RAPIDA’-study team. The value of signs, symptoms and plasma heart-type fatty acid-binding protein (H-FABP) in evaluating patients presenting with symptoms possibly matching acute coronary syndrome: background and methods of a diagnostic study in primary care. BMC Family Practice. 2014, 15:203.

Wolfs IM, Stöger JL, Goossens P, Pöttgens C, Gijbels MJ, Wijnands E, van der Vorst EP, van Gorp P, Beckers L, Engel D, Biessen EA, Kraal G, van Die I, Donners MM, de Winther MP. Reprogramming macrophages to an anti-inflammatory phenotype by helminth antigens reduces murine atherosclerosis. FASEB J. 2014 Jan;28(1):288-99.

MOLECULAR CELL BIOLOGY

Alexander BE, Liebrand K, Osinga R, Geest van der HG, Admiraal W, Cleutjens JPM, Schutte B, Verheyen F, Ribes M, Loon van E, Goeij de JM. Cell turnover and detritus production in marine sponges from tropical and temperate benthic ecosystems. PLoS One 2014; 9: e109486.

Angin Y, Schwenk RW, Nergiz-Unal R, Hoebers N, Heemskerk JWM, Kuijpers MJ, Coumans WA, Zandvoort van MAMJ, Bonen A, Neumann D, Glatz JFC, Luiken JJFP. Calcium signaling recruits substrate transporters GLUT4 and CD36 to the sarcolemma without increasing cardiac substrate uptake. American Journal of Physiology. Endocrinology and Metabolism 2014; 307: E225-E236.

Bergshoeff VE, Heijden van der SJA, Haesevoets A, Litjens SGH, Bot FJ, Voogd AC, Chenault MN, Hopman AHN, Schuuring E, Wal van der JM, Manni JJ, Ramaekers FCS, Kremer B, Speel E-JM. Chromosome instability predicts progression of premalignant lesions of the larynx. Pathology - Anatomical Pathology 2014; 46: 216-224.

Broers JLV, Ramaekers FCS. The role of the nuclear lamina in cancer and apoptosis.
In: Cancer Biology and the Nuclear Envelope. E.C. Schirmer and J.I. de las Heras (eds). Springer, New York. Advances in Experimental Medicine and Biology 2014; 773: 27-48.

Dittmar R, Dijk van BGM, Zandvoort van MAMJ, Ito K. In situ label-free cell viability assessment of nucleus pulposus tissue. Journal of Orthopaedic Research 2014; 32: 545-550.

Duarte Campos DF, Vogt M, Lindner M, Kirsten A, Weber M, Megens RTA, Pyta J, Zenke M, Zandvoort van MAMJ, Fischer H. Two-photon laser scanning microscopy as a useful tool for imaging and evaluating macrophage-, IL-4 activated macrophage- and osteoclast-based in vitro degradation of beta-tricalcium phosphate bone substitute material. Microscopy Research & Technique 2014; 77: 143-152.

Franke T, Kosolov MS, Zandvoort van MAMJ, Langhorst M. Two-photon microscopy with fixed-wavelength femtosecond lasers. Imaging & Microscopy 2014; issue 1, publishing date March 17 2014.

Gaens KHJ, Goossens GH, Niessen PM, Greevenbroek van MM, Kallen van der CJH, Niessen HW, Rensen SS, Buurman WA, Greve JWM, Blaak EE, Zandvoort van MA, Bierhaus A, Stehouwer CDA, Schalkwijk CG. Nε-(carboxymethyl)lysine-receptor for advanced glycation end product axis is a key modulator of obesity-induced dysregulation of adipokine expression and insulin resistance. Arteriosclerosis, Thrombosis and Vascular Biology 2014; 34: 1199-1208.

Gomez AM, Willcox N, Vrolix K, Hummel J, Nogales-Gadea G, Saxena A, Duimel H, Verheyen F, Molenaar PC, Buurman WA, De Baets MH, Martinez-Martinez P, Losen M.
Proteasome inhibition with bortezomib depletes plasma cells and specific autoantibody production in primary thymic cell cultures from early-onset myasthenia gravis patients. Journal of Immunology 2014; 193: 1055-1063.

Jong de S, Middendorp van LB, Hermans RH, Bakker de JM, Bierhuizen MF, Prinzen FW, Rijen van HV, Losen M, Vos MA, Zandvoort van MA. Ex vivo and in vivo administration of fluorescent CNA35 specifically marks cardiac fibrosis. Molecular Imaging 2014; 13: 1-9.

Kapsokalyvas D, Schiffers PMH, Maij N, Suylen DP, Hackeng TM, Zandvoort van MAMJ, De Mey JGR. Imaging evidence for endothelin ETA/ETB receptor heterodimers in isolated rat mesenteric resistance arteries. Life Sciences 2014; 111: 36-41.

Lemmens KJA, Wier van de B, Vaes N, Ghosh M, Zandvoort van MAMJ, Vijgh van der WJF, Bast A, Haenen GRMM. The flavonoid 7-mono-O-(β-hydroxyethyl)-rutoside is able to protect endothelial cells by a direct antioxidant effect. Toxicology in vitro 2014; 28: 538-543.

Li X, Zhu M, Penfold ME, Koenen RR, Thiemann A, Heyll K, Akhtar S, Koyadan S, Wu Z, Gremse F, Kiessling F, Zandvoort van M, Schall TJ, Weber C, Schober A. Activation of CXCR7 limits atherosclerosis and improves hyperlipidemia by increasing cholesterol uptake in adipose tissue. Circulation 2014; 129: 1244-1253.

Litjens RJNTM, Vijver van de KK, Hopman AHN, Ummelen MI, Speel E-JM, Sastrowijoto SH, Van Gorp T, Slangen BFM, Kruitwagen RFPM, Krüse A-J. The majority of metachronous CIN1 and CIN3 lesions are caused by different human papillomavirus genotypes, indicating that the presence of CIN1 seems not to determine the risk for subsequent detection of CIN3. Human Pathology 2014; 45: 221-226.

Marinoni I, Schmitt Kurrer A, Vassella E, Dettmer M, Rudolph T, Banz V, Hunger F, Pasquinelli S, Speel E-J, Perren A. Loss of DAXX and ATRX are associated with chromosome instability and reduced survival of patients with pancreatic neuroendocrine tumors. Gastroenterology 2014; 146: 453-460.

Mooren JJ, Gültekin SE, Straetmans JMJAA, Haesevoets A, Peutz-Kootstra CJ, Huebbers CU, Dienes HP, Wieland U, Ramaekers FCS, Kremer B, Speel E-JM, Klussmann JP. P16INK4A immunostaining is a strong indicator for high-risk-HPV-associated oropharyngeal carcinomas and dysplasias, but is unreliable to predict low-risk-HPV-infection in head and neck papillomas and laryngeal dysplasias. International Journal of Cancer 2014; 134: 2108-2117.

Olthof NC, Speel EJ, Kolligs J, Haesevoets A, Henfling M, Ramaekers FC, Preuss SF, Drebber U, Wieland U, Silling S, Lam WL, Vucic EA, Kremer B, Klussmann JP, Huebbers CU. Comprehensive Analysis of HPV16 Integration in OSCC Reveals No Significant Impact of Physical Status on Viral Oncogene and Virally Disrupted Human Gene Expression.PLoS One. 2014; 9: e88718.

Ossel J, Litjens RJ, Reijans M, Brink AATP, Ummelen M, Ramaekers FC, Hopman AHN, Simons G. Human Papillomavirus typing by Single tube Multiplex Amplification in Real Time (SMART): the PapillomaFinder® SMART 20 assay. Journal of Clinical Virology 2014; 61: 540-547.

Sadat U, Jaffer FA, Zandvoort van MAMJ, Nicholls SJ, Ribatti D, Gillard JH. Inflammation and neovascularization intertwined in atherosclerosis: imaging of structural and molecular imaging targets. Circulation 2014; 130: 786-794.

Schmitt MMN, Megens RTA, Zernecke A, Bidzhekov K. Akker van den NM, Rademakers T, Zandvoort van MA, Hackeng TM, Koenen RR, Weber C. Endothelial junctional adhesion molecule-A guides monocytes into flow-dependent predilection sites of atherosclerosis. Circulation 2014; 129: 66-76.

Schueth A, Zandvoort van MAMJ, Buurman WA, Koeveringe van GA. Murine bladder imaging by means of two-photon microscopy - an experimental study of morphology. The Journal of Urology 2014; 192: 973-980.

Swarts DRA, Scarpa A, Corbo V, Van Criekinge W, Engeland van M, Gatti G, Henfling MER, Papotti M, Perren A, Ramaekers FCS, Speel E-JM, Volante M. MEN1 gene mutation and reduced expression are associated with poor prognosis in pulmonary carcinoids. Journal of Clinical Endocrinology & Metabolism 2014; 99: E374-E378.

Swarts DRA, Suylen van R-J, Bakker den MA, Oosterhout van MFM, Thunnissen FBJM, Volante M, Dingemans A-MC, Scheltinga MRM, Bootsma GP, Pouwels HMM, Borne van den BEEM, Ramaekers FCS, Speel E-JM, Volante M. Interobserver variability for the WHO classification of pulmonary carcinoids. American Journal of Surgical Pathology 2014; 38: 1429-1436.

Verheyen F, Racz R, Borgers M, Driesen RB, Lenders MH, Flameng WJ. Chronic hibernating myocardium in sheep can occur without degenerating events and is reversed after revascularization. Cardiovascular Pathology 2014; 23:160-168.

Vreuls CPH, Wisse E, Duimel H, Stevens K, Verheyen F, Braet F, Driessen A, Koek GH. Jet-fixation: a novel method to improve microscopy of human liver needle biopsies. Hepatology 2014; 59: 737-739.

Weinandy S, Laffar S, Unger RE, Flanagan TC, Loesel R, Kirkpatrick CJ, Zandvoort van M, Hermanns-Sachweh B, Dreier A, Klee D, Jockenhoevel S. Biofunctionalised microfibre-assisted formation of intrinsic three-dimensional (3-D) capillary-like structures. Tissue Engineering Part A 2014; 20: 1858-1869.

Wijnands KAP, Hoeksema MA, Meesters DM, Akker van den NMS, Molin DGM, Briedé JJ, Ghosh M, Köhler SE, Zandvoort van MAMJ, Winther de MPJ, Buurman WA, Lamers WH, Poeze M. Arginase-1 deficiency regulates arginine concentrations and NOS2-mediated NO production during endotoxemia. PLoS One 2014; 9: e86135.

CLINICAL GENETICS

Agha Z, Iqbal Z, Azam M, Ayub H, Vissers LE, Gilissen C, Ali SH, Riaz M, Veltman JA, Pfundt R, van Bokhoven H, Qamar R. Exome sequencing identifies three novel candidate genes implicated in intellectual disability. PLoS One 2014, 9: e112687.

Baasch AL, Hüning I, Gilissen C, Klepper J, Veltman JA, Gillessen-Kaesbach G, Hoischen A, Lohmann K. Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities. Epilepsia 55: e25-9.

Bancroft EK, Page EC, Castro E, Lilja H, Vickers A, Sjoberg D, Assel M, Foster CS, Mitchell G, Drew K, Mæhle L, Axcrona K, Evans DG, Bulman B, Eccles D, McBride D, van Asperen C, Vasen H, Kiemeney LA, Ringelberg J, Cybulski C, Wokolorczyk D, Selkirk C, Hulick PJ, Bojesen A, Skytte AB, Lam J, Taylor L, Oldenburg R, Cremers R, Verhaegh G, van Zelst-Stams WA, Oosterwijk JC, Blanco I, Salinas M, Cook J, Rosario DJ, Buys S, Conner T, Ausems MG, Ong KR, Hoffman J, Domchek S, Powers J, Teixeira MR, Maia S, Foulkes WD, Taherian N, Ruijs M, Helderman-van den Enden AT, Izatt L, Davidson R, Adank MA, Walker L, Schmutzler R, Tucker K, Kirk J, Hodgson S, Harris M, Douglas F, Lindeman GJ, Zgajnar J, Tischkowitz M, Clowes VE, Susman R, Ramón y Cajal T, Patcher N, Gadea N, Spigelman A, van Os T, Liljegren A, Side L, Brewer C, Brady AF, Donaldson A, Stefansdottir V, Friedman E, Chen-Shtoyerman R, Amor DJ, Copakova L, Barwell J, Giri VN, Murthy V, Nicolai N, Teo SH, Greenhalgh L, Strom S, Henderson A, McGrath J, Gallagher D, Aaronson N, Ardern-Jones A, Bangma C, Dearnaley D, Costello P, Eyfjord J, Rothwell J, Falconer A, Gronberg H, Hamdy FC, Johannsson O, Khoo V, Kote-Jarai Z, Lubinski J, Axcrona U, Melia J, McKinley J, Mitra AV, Moynihan C, Rennert G, Suri M, Wilson P, Killick E; IMPACT Collaborators, Moss S, Eeles RA. Targeted prostate cancer screening in BRCA1 and BRCA2 mutation carriers: results from the initial screening round of the IMPACT study. Eur Urol. 2014 Sep;66(3):489-99.

Bauters M, Frints SG, Van Esch H, Spruijt L, Baldewijns MM, de Die-Smulders CE, Fryns JP, Marynen P, Froyen G. Evidence for increased SOX3 dosage as a risk factor for X-linked hypopituitarism and neural tube defects. Am J Med Genet A. 2014 Aug;164A(8):1947-52.

Ter Bekke RM, Haugaa KH, van den Wijngaard A, Bos JM, Ackerman MJ, Edvardsen T, Volders PG. Electromechanical window negativity in genotyped long-QT syndrome patients: relation to arrhythmia risk. Eur Heart J. 2014 Sep 8.

Bekkema N, de Veer AJ, Wagemans AM, Hertogh CM, Francke AL. Decision making about medical interventions in the end-of-life care of people with intellectual disabilities: a national survey of the considerations and beliefs of GPs, ID physicians and care staff. Patient Educ Couns. 2014 Aug;96(2):204-9.

Bekkema N, de Veer AJ, Wagemans AM, Hertogh CM, Francke AL. 'To move or not to move': a national survey among professionals on beliefs and considerations about  the place of end-of-life care for people with intellectual disabilities. J Intellect Disabil Res. 2014 May 27.

N. Blau et al. (eds.), Jörgen Bierau and Ivan Šebesta in: Physician’s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases, 641-660, Purine and Pyrimidine Disorders, Springer-Verlag Berlin Heidelberg 2014.

Brinkhuizen T, Reinders MG, van Geel M, Hendriksen AJ, Paulussen AD, Winnepenninckx VJ, Keymeulen KB, Soetekouw PM, van Steensel MA, Mosterd K. Acquired resistance to the Hedgehog pathway inhibitor vismodegib due to smoothened mutations in treatment of locally advanced basal cell carcinoma. J Am Acad Dermatol. 2014 Nov;71(5):1005-8.

Ten Broeke SW, Brohet RM, Tops CM, van der Klift HM, Velthuizen ME, Bernstein I, Capellá Munar G, Gómez García E, Hoogerbrugge N, Letteboer TG, Menko FH, Lindblom A, Mensenkamp AR, Moller P, van Os TA, Rahner N, Redeker BJ, Sijmons RH, Spruijt L, Suerink M, Vos YJ, Wagner A, Hes FJ, Vasen HF, Nielsen M, Wijnen JT. Lynch Syndrome Caused by Germline PMS2 Mutations: Delineating the Cancer Risk. J Clin Oncol. 2014 Dec 15. [Epub ahead of print].

Brohet RM, Velthuizen ME, Hogervorst FB, Meijers-Heijboer HE, Seynaeve C, Collée MJ, Verhoef S, Ausems MG, Hoogerbrugge N, van Asperen CJ, Gómez García E, Menko F, Oosterwijk JC, Devilee P, van't Veer LJ, van Leeuwen FE, Easton DF, Rookus MA, Antoniou AC; HEBON Resource. Breast and ovarian cancer risks in a large series of clinically ascertained families with a high proportion of BRCA1 and BRCA2 Dutch founder mutations. J Med Genet. 2014 Feb;51(2):98-107.

Brouwer BA, Merkies IS, Gerrits MM, Waxman SG, Hoeijmakers JG, Faber CG. Painful neuropathies: the emerging role of sodium channelopathies. J Peripher Nerv Syst. 2014 Jun;19(2):53-65.

Cai DC, Fonteijn H, Guadalupe T, Zwiers M, Wittfeld K, Teumer A, Hoogman M, Arias-Vásquez A, Yang Y, Buitelaar J, Fernández G, Brunner HG, van Bokhoven H, Franke B, Hegenscheid K, Homuth G, Fisher SE, Grabe HJ, Francks C, Hagoort P. A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus. Genes Brain Behav. 2014 Sep;13(7):675-85.

Campbell IM, Yuan B, Robberecht C, Pfundt R, Szafranski P, McEntagart ME, Nagamani SC, Erez A, Bartnik M, Wiśniowiecka-Kowalnik B, Plunkett KS, Pursley AN, Kang SH, Bi W, Lalani SR, Bacino CA, Vast M, Marks K, Patton M, Olofsson P, Patel A, Veltman JA, Cheung SW, Shaw CA, Vissers LE, Vermeesch JR, Lupski JR, Stankiewicz P. Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders. American Journal of Human Genetics 2014, 95: 173-82.

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ESHRE Capri Workshop Group. Birth defects and congenital health risks in children conceived through assisted reproduction technology (ART): a meeting report. J Assist Reprod Genet. 2014 Aug;31(8):947-58.

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Gillis E, Kempers M, Salemink S, Timmermans J, Cheriex EC, Bekkers SC, Fransen E, De Die-Smulders CE, Loeys BL, Van Laer L. An FBN1 deep intronic mutation in a familial case of Marfan syndrome: an explanation for genetically unsolved cases? Hum Mutat. 2014 May;35(5):571-4.

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Han C, Vasylyev D, Macala LJ, Gerrits MM, Hoeijmakers JG, Bekelaar KJ, Dib-Hajj SD, Faber CG, Merkies IS, Waxman SG. The G1662S NaV1.8 mutation in small fibre neuropathy: impaired inactivation underlying DRG neuron hyperexcitability. J Neurol Neurosurg Psychiatry. 2014 May;85(5):499-505.

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Hes FJ, Ruano D, Nieuwenhuis M, Tops CM, Schrumpf M, Nielsen M, Huijts PE, Wijnen JT, Wagner A, Gómez García EB, Sijmons RH, Menko FH, Letteboer TG, Hoogerbrugge N, Harryvan J, Kampman E, Morreau H, Vasen HF, van Wezel T. Colorectal cancer risk variants on 11q23 and 15q13 are associated with unexplained adenomatous polyposis. J Med Genet. 2014 Jan;51(1):55-60.

Huang J, Han C, Estacion M, Vasylyev D, Hoeijmakers JG, Gerrits MM, Tyrrell L, Lauria G, Faber CG, Dib-Hajj SD, Merkies IS, Waxman SG; PROPANE Study Group. Gain-of-function mutations in sodium channel Na(v)1.9 in painful neuropathy. Brain. 2014 Jun;137(Pt 6):1627-42.

Ito H, Shiwaku H, Yoshida C, Homma H, Luo H, Chen X, Fujita K, Musante L, Fischer U, Frints SG, Romano C, Ikeuchi Y, Shimamura T, Imoto S, Miyano S, Muramatsu SI, Kawauchi T, Hoshino M, Sudol M, Arumughan A, Wanker EE, Rich T, Schwartz C, Matsuzaki F, Bonni A, Kalscheuer VM, Okazawa H. In utero gene therapy rescues microcephaly caused by Pqbp1-hypofunction in neural stem progenitor cells. Mol Psychiatry. 2014 Jul 29.

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Kaufmann JO, Krapels IP, Van Brussel BT, Zekveld-Vroon RC, Oosterwijk JC, van Erp F, van Echtelt J, Zwijnenburg PJ, Petrij F, Bakker E, Giordano PC. After the introduction into the national newborn screening program: who is receiving genetic counseling for hemoglobinopathies in the Netherlands? Public Health Genomics. 2014;17(1):16-22.

Keszthelyi D, Troost FJ, Jonkers DM, van Eijk HM, Lindsey PJ, Dekker J, Buurman WA, Masclee AA. Serotonergic reinforcement of intestinal barrier function is impaired in irritable bowel syndrome. Aliment Pharmacol Ther. 2014 Aug;40(4):392-402.

Klaassens M, Morrogh D, Rosser EM, Jaffer F, Vreeburg M, Bok LA, Segboer T, van Belzen M, Quinlivan RM, Kumar A, Hurst JA, Scott RH. Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature. Eur J Hum Genet. 2014 Aug 13.

Kleijkers SH, van Montfoort AP, Smits LJ, Viechtbauer W, Roseboom TJ, Nelissen EC, Coonen E, Derhaag JG, Bastings L, Schreurs IE, Evers JL, Dumoulin JC. IVF culture medium affects post-natal weight in humans during the first 2 years of life. Hum Reprod. 2014 Apr;29(4):661-9.

Koeneman MM, Kruse AJ, Sep SJ, Gubbels CS, Slangen BF, van Gorp T, Lopes A, Gómez-García E, Kruitwagen RF. A family history questionnaire improves detection of women at risk for hereditary gynecologic cancer: a pilot study.
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Kuechler A, Willemsen MH, Albrecht B, Bacino CA, Bartholomew DW, van Bokhoven H, van den Boogaard MJ, Bramswig N, Büttner C, Cremer K, Czeschik JC, Engels H, van Gassen K, Graf E, van Haelst M, He W, Hogue JS, Kempers M, Koolen D, Monroe G, de Munnik S, Pastore M, Reis A, Reuter MS, Tegay DH, Veltman J, Visser G, van Hasselt P, Smeets EE, Vissers L, Wieland T, Wissink W, Yntema H, Zink AM, Strom TM, Lüdecke HJ, Kleefstra T, Wieczorek D. De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum. Hum Genet. 2014 Oct 19.

Lee JR, Srour M, Kim D, Hamdan FF, Lim SH, Brunel-Guitton C, Décarie JC, Rossignol E, Mitchell GA, Schreiber A, Moran R, Van Haren K, Richardson R, Nicolai J, Oberndorff KM, Wagner JD, Boycott KM, Rahikkala E, Junna N, Tyynismaa  H, Cuppen I, Verbeek NE, Stumpel CT, Willemsen MA, de Munnik SA, Rouleau GA, Kim E, Kamsteeg EJ, Kleefstra T, Michaud JL. De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy. Hum Mutat. 2014 Sep 29.

Edwin C. M. Mariman, F. G. Bouwman, Erik E. J. G. Aller, Marleen A. van Baak, Ping Wang. High frequency of rare variants with a moderate-to-high predicted biological effect in protocadherin genes of extremely obese. Genes Nutr. May 2014; 9(3): 399, Mar 30, 2014.

Marsman RF, Barc J, Beekman L, Alders M, Dooijes D, van den Wijngaard A, Ratbi I, Sefiani A, Bhuiyan ZA, Wilde AA, Bezzina CR. A mutation in CALM1 encoding calmodulin in familial idiopathic ventricular fibrillation in childhood and adolescence. J Am Coll Cardiol. 2014 Jan 28;63(3):259-66.

McMillin MJ, Beck AE, Chong JX, Shively KM, Buckingham KJ, Gildersleeve HI, Aracena MI, Aylsworth AS, Bitoun P, Carey JC, Clericuzio CL, Crow YJ, Curry CJ, Devriendt K, Everman DB, Fryer A, Gibson K, Giovannucci Uzielli ML, Graham JM Jr, Hall JG, Hecht JT, Heidenreich RA, Hurst JA, Irani S, Krapels IP, Leroy JG, Mowat D, Plant GT, Robertson SP, Schorry EK, Scott RH, Seaver LH, Sherr E, Splitt M, Stewart H, Stumpel C, Temel SG, Weaver DD, Whiteford M, Williams MS, Tabor HK, Smith JD, Shendure J, Nickerson DA; University of Washington Center for Mendelian Genomics, Bamshad MJ. Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. Am J Hum Genet. 2014 May 1;94(5):734-44.

Moutou C, Goossens V, Coonen E, De Rycke M, Kokkali G, Renwick P, SenGupta SB, Vesela K, Traeger-Synodinos J. ESHRE PGD Consortium data collection XII: cycles from January to December 2009 with pregnancy follow-up to October 2010. Hum Reprod. 2014 May;29(5):880-903.

de Munnik SA, García-Miñaúr S, Hoischen A, van Bon BW, Boycott KM, Schoots J, Hoefsloot LH, Knoers NV, Bongers EM, Brunner HG. A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome. Eur J Hum Genet. 22:844-846, 2014.

Natesan SA, Bladon AJ, Coskun S, Qubbaj W, Prates R, Munne S, Coonen E, Dreesen JC, Stevens SJ, Paulussen AD, Stock-Myer SE, Wilton LJ, Jaroudi S, Wells D, Brown AP, Handyside AH. Genome-wide karyomapping accurately identifies the inheritance of single-gene defects in human preimplantation embryos in vitro. Genet. Med. 2014 Nov;16(11):838-45.

Nellen RG, Arits AH, van Geel M, Steijlen PM, van Steensel MA. Darier disease: discrete phenotype in a Sinhalese patient with Darier disease. J Eur Acad Dermatol Venereol. 2014 Jul 1. [Epub ahead of print].

Nieuwenhuis MH, Kets CM, Murphy-Ryan M, Yntema HG, Evans DG, Colas C, Møller P, Hes FJ, Hodgson SV, Olderode-Berends MJ, Aretz S, Heinimann K, Gómez García EB, Douglas F, Spigelman A, Timshel S, Lindor NM, Vasen HF. Cancer risk and genotype-phenotype correlations in PTEN hamartoma tumor syndrome. Fam Cancer. 2014 Mar;13(1):57-63.

Charlotte W Ockeloen, Marjolein H. Willemsen, Sonja de Munnik, Bregje WM van Bon, Nicole de Leeuw, Aad Verrips, Sarina G Kant, Elizabeth A. Jones, Han G. Brunner, Rosa L.E. van Loon, Eric E.J. Smeets, Mieke M. van Haelst, Gijs van Haaften, Ann Nordgren, Helena Malmgren, Giedre Grigelioniene, Sascha Vermeer, Pedro Louro, Lina Ramos, Thomas JJ Maal, Celeste C. van Heumen, Helger G. Yntema, Carine E.L. Carels, Tjitske Kleefstra. Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations. European Journal of Human Genetics, advance online publication 26 November 2014.

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Oud MM, van Bon BW, Bongers EM, Hoischen A, Marcelis CL, de Leeuw N, Mol SJ, Mortier G, Knoers NV, Brunner HG, Roepman R, Arts HH. Early presentation of cystic kidneys in a family with a homozygous INVS mutation. Am J Med Genet A. 2014.

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van de Putte R, Wijers CH, de Blaauw I, Feitz WF, Marcelis CL, Hakobjan M, Sloots CE, van Bever Y, Brunner HG, Roeleveld N, van Rooij IA, van der Zanden LF. Sequencing of the DKK1 gene in patients with anorectal malformations and hypospadias. Eur J Pediatr. 2014.

van Rij MC, de Koning Gans PA, Aalfs CM, Elting M, Ippel PF, Maat-Kievit JA, Vermeer S, Verschuuren-Bemelmans CC, van Belzen MJ, Belfroid RD, Losekoot M, Geraedts JP, Roos RA, Tibben A, de Die-Smulders CE, Bijlsma EK. Prenatal testing for Huntington's disease in the Netherlands from 1998 to 2008. Clin Genet. 2014 Jan;85(1):78-86.

van Rij MC, de Koning Gans PA, van Belzen MJ, Roos RA, Geraedts JP, De Rademaeker M, Bijlsma EK, de Die-Smulders CE. The uptake and outcome of prenatal  and pre-implantation genetic diagnosis for Huntington's disease in the Netherlands (1998-2008). Clin Genet. 2014 Jan;85(1):87-95.

Roifman M, Marcelis C, Paton T, Marshall C, Silver R, Lohr J, Yntema H, Venselaar H, Kayserili H, van Bon B, Seaward G; FORGE Canada Consortium, Brunner H, Chitayat D. De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype. Clin Genet. 2014.

Saadatmand S, Vos JR, Hooning MJ, Oosterwijk JC, Koppert LB, de Bock GH, Ausems MG, van Asperen CJ, Aalfs CM, Gómez García EB, Meijers-Heijboer H, Hoogerbrugge N, Piek M, Seynaeve C, Verhoef C, Rookus M, Tilanus-Linthorst MM; Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON). Relevance and efficacy of breast cancer screening in BRCA1 and BRCA2 mutation carriers above 60 years: a national cohort study. Int J Cancer. 2014 Dec 15;135(12):2940-9.

Van Scherpenzeel M, Timal S, Rymen D, Hoischen A, Wuhrer M, Hipgrave-Ederveen A, Grunewald S, Peanne R, Saada A, Edvardson S, Grønborg S, Ruijter G, Kattentidt-Mouravieva A, Brum JM, Freckmann ML, Tomkins S, Jalan A, Prochazkova D, Ondruskova N, Hansikova H, Willemsen MA, Hensbergen PJ, Matthijs G, Wevers RA, Veltman JA, Morava E, Lefeber DJ. Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency. Brain 2014, 137: 1030-8.

Schrander DE, Welting TJ, Caron MM, Schrander JJ, van Rhijn LW, Körver-Keularts I, Schrander-Stumpel CT. Endochondral ossification in a case of progressive osseous heteroplasia in a young female child. J Pediatr Orthop B. 2014 Sep;23(5):477-84.

Sie AS, Brunner HG, Hoogerbrugge N. Easy-to-Use Decision Aids for Improved Cancer Family History Collection and Use Among Oncology Practices. J Clin Oncol. 2014, 32:3343.

Sie AS, Prins JB, van Zelst-Stams WA, Veltman JA, Feenstra I, Hoogerbrugge N. Patient experiences with gene panels based on exome sequencing in clinical diagnostics: high acceptance and low distress. Clinical Genetics [Epub ahead of print].

Sie AS, van Zelst-Stams WA, Spruijt L, Mensenkamp AR, Ligtenberg MJ, Brunner HG, Prins JB, Hoogerbrugge N. More breast cancer patients prefer BRCA-mutation testing without prior face-to-face genetic counseling. Fam Cancer. 2014, 13:143-151.

Sonnhammer EL, Gabaldón T, Sousa da Silva AW, Martin M, Robinson-Rechavi M, Boeckmann B, Thomas PD, Dessimoz C; Quest for Orthologs consortium, Altenhoff A, Blake J, Boeckmann B, Cherry M, Chiba H, Daubin V, DeLuca T, Dessimoz C, Dufayard JF, Durand D, Ebersberger I, Breis JT, Forslund K, Gabaldon T, Gil M, Grbić Đ, Herrero J, Keseler I, Kriventseva E, Lasalle G, Lewis S, Li LM, Linard B, Löytynoja A, Lyne R, Martin M, Mazumder R, Miele V, Moretti S, Muffato M, Mungall C, Patricio M, Penel S, Pereira C, Petersen M, Planel R, Robinson-Rechavi M, Roos D, Schmitt T, Schreiber F, Sjölander K, Škunca N, Sonnhammer E, Sousa da Silva AW, Szklarczyk R, Thomas P, Uchiyama I, Ullate A, Van Bel M, Vandepoele K, Waterhouse R, Wilbrandt J, Xenarios I, Yates A, Zdobnov E. Big data and other challenges in the quest for orthologs. Bioinformatics. 2014 Nov 1;30(21):2993-8.

Spätjens RL, Bébarová M, Seyen SR, Lentink V, Jongbloed RJ, Arens YH, Heijman J, Volders PG. Long-QT mutation p.K557E-Kv7.1: dominant-negative suppression of IKs, but preserved cAMP-dependent up-regulation. Cardiovasc Res. 2014 Oct 1;104(1):216-25.

Speijer D, Manjeri GR, Szklarczyk R. How to deal with oxygen radicals stemming from mitochondrial fatty acid oxidation. Philos Trans R Soc Lond B Biol Sci. 2014 Jul 5;369(1646):20130446.

Stevens SJ, Blom EW, Siegelaer IT, Smeets EE. A recurrent deletion syndrome at chromosome bands 2p11.2-2p12 flanked by segmental duplications at the breakpoints and including REEP1. Eur J Hum Genet. 2014 Jul 2.

Szklarczyk R, Nooteboom M, Osiewacz HD. Control of mitochondrial integrity in ageing and disease. Philos Trans R Soc Lond B Biol Sci. 2014 Jul 5;369(1646):20130439.

Tegtmeyer LC, Rust S, van Scherpenzeel M, Ng BG, Losfeld ME, Timal S, Raymond K, He P, Ichikawa M, Veltman J, Huijben K, Shin YS, Sharma V, Adamowicz M, Lammens M, Reunert J, Witten A, Schrapers E, Matthijs G, Jaeken J, Rymen D, Stojkovic T, Laforêt P, Petit F, Aumaître O, Czarnowska E, Piraud M, Podskarbi T, Stanley CA, Matalon R, Burda P, Seyyedi S, Debus V, Socha P, Sykut-Cegielska J, van Spronsen F, de Meirleir L, Vajro P, DeClue T, Ficicioglu C, Wada Y, Wevers RA, Vanderschaeghe D, Callewaert N, Fingerhut R, van Schaftingen E, Freeze HH, Morava E, Lefeber DJ, Marquardt T. Multiple phenotypes in phosphoglucomutase 1 deficiency. New England Journal of Medicine 2014, 370: 533-42.

Thompson PM, Stein JL, Medland SE, Hibar DP, Vasquez AA, Renteria ME, Toro R, Jahanshad N, Schumann G, Franke B, Wright MJ, Martin NG, Agartz I, Alda M, Alhusaini S, Almasy L, Almeida J, Alpert K, Andreasen NC, Andreassen OA, Apostolova LG, Appel K, Armstrong NJ, Aribisala B, Bastin ME, Bauer M, Bearden CE, Bergmann O, Binder EB, Blangero J, Bockholt HJ, Bøen E, Bois C, Boomsma DI, Booth T, Bowman IJ, Bralten J, Brouwer RM, Brunner HG, Brohawn DG, Buckner RL, Buitelaar J, Bulayeva K, Bustillo JR, Calhoun VD, Cannon DM, Cantor RM, Carless MA, Caseras X, Cavalleri GL, Chakravarty MM, Chang KD, Ching CR, Christoforou A, Cichon S, Clark VP, Conrod P, Coppola G, Crespo-Facorro B, Curran JE, Czisch M, Deary IJ, de Geus EJ, den Braber A, Delvecchio G, Depondt C, de Haan L, de Zubicaray GI, Dima D, Dimitrova R, Djurovic S, Dong H, Donohoe G, Duggirala R, Dyer TD, Ehrlich S, Ekman CJ, Elvsåshagen T, Emsell L, Erk S, Espeseth T, Fagerness J, Fears S, Fedko I, Fernández G, Fisher SE, Foroud T, Fox PT, Francks C, Frangou S, Frey EM, Frodl T, Frouin V, Garavan H, Giddaluru S, Glahn DC, Godlewska B, Goldstein RZ, Gollub RL, Grabe HJ, Grimm O, Gruber O, Guadalupe T, Gur RE, Gur RC, Göring HH, Hagenaars S, Hajek T, Hall GB, Hall J, Hardy J, Hartman CA, Hass J, Hatton SN, Haukvik UK, Hegenscheid K, Heinz A, Hickie IB, Ho BC, Hoehn D, Hoekstra PJ, Hollinshead M, Holmes AJ, Homuth G, Hoogman M, Hong LE, Hosten N, Hottenga JJ, Hulshoff Pol HE, Hwang KS, Jack CR Jr, Jenkinson M, Johnston C, Jönsson EG, Kahn RS, Kasperaviciute D, Kelly S, Kim S, Kochunov P, Koenders L, Krämer B, Kwok JB, Lagopoulos J, Laje G, Landen M, Landman BA, Lauriello J, Lawrie SM, Lee PH, Le Hellard S, Lemaître H, Leonardo CD, Li CS, Liberg B, Liewald DC, Liu X, Lopez LM, Loth E, Lourdusamy A, Luciano M, Macciardi F, Machielsen MW, Macqueen GM, Malt UF, Mandl R, Manoach DS, Martinot JL, Matarin M, Mather KA, Mattheisen M, Mattingsdal M, Meyer-Lindenberg A, McDonald C, McIntosh AM, McMahon FJ, McMahon KL, Meisenzahl E, Melle I, Milaneschi Y, Mohnke S, Montgomery GW, Morris DW, Moses EK, Mueller BA, Muñoz Maniega S, Mühleisen TW, Müller-Myhsok B, Mwangi B, Nauck M, Nho K, Nichols TE, Nilsson LG, Nugent AC, Nyberg L, Olvera RL, Oosterlaan J, Ophoff RA, Pandolfo M, Papalampropoulou-Tsiridou M, Papmeyer M, Paus T, Pausova Z, Pearlson GD, Penninx BW, Peterson CP, Pfennig A, Phillips M, Pike GB, Poline JB, Potkin SG, Pütz B, Ramasamy A, Rasmussen J, Rietschel M, Rijpkema M, Risacher SL, Roffman JL, Roiz-Santiañez R, Romanczuk-Seiferth N, Rose EJ, Royle NA, Rujescu D, Ryten M, Sachdev PS, Salami A, Satterthwaite TD, Savitz J, Saykin AJ, Scanlon C, Schmaal L, Schnack HG, Schork AJ, Schulz SC, Schür R, Seidman L, Shen L, Shoemaker JM, Simmons A, Sisodiya SM, Smith C, Smoller JW, Soares JC, Sponheim SR, Sprooten E, Starr JM, Steen VM, Strakowski S, Strike L, Sussmann J, Sämann PG, Teumer A, Toga AW, Tordesillas-Gutierrez D, Trabzuni D, Trost S, Turner J, Van den Heuvel M, van der Wee NJ, van Eijk K, van Erp TG, van Haren NE, van 't Ent D, van Tol MJ, Valdés Hernández MC, Veltman DJ, Versace A, Völzke H, Walker R, Walter H, Wang L, Wardlaw JM, Weale ME, Weiner MW, Wen W, Westlye LT, Whalley HC, Whelan CD, White T, Winkler AM, Wittfeld K, Woldehawariat G, Wolf C, Zilles D, Zwiers MP, Thalamuthu A, Schofield PR, Freimer NB, Lawrence NS, Drevets W; Alzheimer’s Disease Neuroimaging Initiative, EPIGEN Consortium, IMAGEN Consortium, Saguenay Youth Study (SYS) Group. The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data. Brain Imaging Behav. 2014, 8:153-182.

Thung D, de Ligt J, Vissers L, Steehouwer M, Kroon M, de Vries P, Slagboom EP, Ye K, Veltman JA, Hehir-Kwa JY. Mobster: accurate detection of mobile element insertions in next generation sequencing data. Genome Biology 2014, 15: 488, 2.

Umićević Mirkov M, Janss L, Vermeulen SH, van de Laar MA, van Riel PL, Guchelaar HJ, Brunner HG, Albers CA, Coenen MJ. Estimation of heritability of different outcomes for genetic studies of TNFi response in patients with rheumatoid arthritis. Ann Rheum Dis. 2014.

Verloes A, Di Donato N, Masliah-Planchon J, Jongmans M, Abdul-Raman OA, Albrecht B, Allanson J, Brunner H, Bertola D, Chassaing N, David A, Devriendt K, Eftekhari P, Drouin-Garraud V, Faravelli F, Faivre L, Giuliano F, Guion Almeida L, Juncos J, Kempers M, Eker HK, Lacombe D, Lin A, Mancini G, Melis D, Lourenço CM, Siu VM, Morin G, Nezarati M, Nowaczyk MJ, Ramer JC, Osimani S, Philip N, Pierpont ME, Procaccio V, Roseli ZS, Rossi M, Rusu C, Sznajer Y, Templin L, Uliana V, Klaus M, Van Bon B, Van Ravenswaaij C, Wainer B, Fry AE, Rump A, Hoischen A, Drunat S, Rivière JB, Dobyns WB, Pilz DT. Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. Eur J Hum Genet. 2014.

Vissers LE, Bonetti M, Paardekooper Overman J, Nillesen WM, Frints SG, de Ligt J, Zampino G, Justino A, Machado JC, Schepens M, Brunner HG, Veltman JA, Scheffer H, Gros P, Costa JL, Tartaglia M, van der Burgt I, Yntema HG, den Hertog J. Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome. Eur J Hum Genet. 2014 Jun 18.

A.M. Voets, B.J.C. van den Bosch, A.P. Stassen, A.T. Hendrickx, D.M. Hellebrekers, L. Van Laer, E. Van Eyken, G. Van Camp, A. Pyle, S.V. Baudouin, P.F. Chinnery, H.J.M. Smeets. Large scale mtDNA sequencing reveals sequence and functional conservation as major determinants of homoplasmic mtDNA variant distribution. Mitochondrion. Author manuscript; available in PMC 2014 May 29. Published in final edited form as: Mitochondrion. 2011 November; 11(6): 964–972.

Vogelaar IP, van der Post RS, van de Vosse E, van Krieken JH, Hoogerbrugge N, Ligtenberg MJ, Gómez García E. Gastric cancer in three relatives of a patient with a biallelic IL12RB1 mutation. Fam Cancer. 2014 Dec 3. [Epub ahead of print].

Vos JR, Teixeira N, van der Kolk DM, Mourits MJ, Rookus MA, van Leeuwen FE, Collée M, van Asperen CJ, Mensenkamp AR, Ausems MG, van Os TA, Meijers-Heijboer HE, Gómez-García EB, Vasen HF, Brohet RM; Hereditary Breast and Ovarian Cancer Research Group Netherlands, van der Hout AH, Jansen L, Oosterwijk JC, de Bock GH. Variation in mutation spectrum partly explains regional differences in the breast cancer risk of female BRCA mutation carriers in the Netherlands. Cancer Epidemiol Biomarkers Prev. 2014 Nov;23(11):2482-91.

Vreeburg M, Sallevelt SC, Stegmann AP, van Geel M, Detisch YJ, Schrander-Stumpel CT, van Steensel MA, Marcus-Soekarman D. Cutaneous clues for diagnosing X-chromosomal disorders. Clin Genet. 2014 Apr;85(4):328-35.

Vreeburg M, van Steensel M. Praktische Pediatrie, no. 3, september 2014, Huidziekten. Erfelijke huidaandoeningen in de dagelijkse kindergeneeskundige praktijk.

Vulto-van Silfhout AT, Rajamanickam S, Jensik PJ, Vergult S, de Rocker N, Newhall KJ, Raghavan R, Reardon SN, Jarrett K, McIntyre T, Bulinski J, Ownby SL, Huggenvik JI, McKnight GS, Rose GM, Cai X, Willaert A, Zweier C, Endele S, de Ligt J, van Bon BW, Lugtenberg D, de Vries PF, Veltman JA, van Bokhoven H, Brunner HG, Rauch A, de Brouwer AP, Carvill GL, Hoischen A, Mefford HC, Eichler EE, Vissers LE, Menten B, Collard MW, de Vries BB. Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems. American Journal of Human Genetics 2014, 94: 649-61.

Vulto-van Silfhout AT, Nakagawa T, Bahi-Buisson N, Haas SA, Hu H, Bienek M, Vissers LE, Gilissen C, Tzschach A, Busche A, Müsebeck J, Rump P, Mathijssen IB, Avela K, Somer M, Doagu F, Philips AK, Rauch A, Baumer A, Voesenek K, Poirier K, Vigneron J, Amram D, Odent S, Nawara M, Obersztyn E, Lenart J, Charzewska A, Lebrun N, Fischer U, Nillesen WM, Yntema HG, Järvelä I, Ropers HH, de Vries BB, Brunner HG, van Bokhoven H, Raymond FL, Willemsen MA, Chelly J, Xiong Y, Barkovich AJ, Kalscheuer VM, Kleefstra T, de Brouwer AP. Variants in CUL4B are Associated with Cerebral Malformations. Hum Mutat. 2014.

Wagemans AM, van Wijmen FC. Advance care planning for people with intellectual disability. Ned Tijdschr Geneeskd. 2014;158(0):A8433.

Wanschers BF, Szklarczyk R, van den Brand MA, Jonckheere A, Suijskens J, Smeets R, Rodenburg RJ, Stephan K, Helland IB, Elkamil A, Rootwelt T, Ott M, van den Heuvel L, Nijtmans LG, Huynen MA. A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability. Hum Mol Genet. 2014 Dec 1;23(23):6356-65.

Waxman SG, Merkies IS, Gerrits MM, Dib-Hajj SD, Lauria G, Cox JJ, Wood JN, Woods CG, Drenth JP, Faber CG. Sodium channel genes in pain-related disorders: phenotype-genotype associations and recommendations for clinical use. Lancet Neurol. 2014 Nov;13(11):1152-60.

Wessels MW, Herkert JC, Frohn-Mulder IM, Dalinghaus M, van den Wijngaard A, de Krijger RR, Michels M, de Coo IF, Hoedemaekers YM, Dooijes D. Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects. Eur J Hum Genet. 2014 Oct 22.

Whiley PJ, de la Hoya M, Thomassen M, Becker A, Brandão R, Pedersen IS, Montagna M, Menéndez M, Quiles F, Gutiérrez-Enríquez S, De Leeneer K, Tenés A, Montalban G, Tserpelis D, Yoshimatsu T, Tirapo C, Raponi M, Caldes T, Blanco A, Santamariña M, Guidugli L, de Garibay GR, Wong M, Tancredi M, Fachal L, Ding YC, Kruse T, Lattimore V, Kwong A, Chan TL, Colombo M, De Vecchi G, Caligo M, Baralle D, Lázaro C, Couch F, Radice P, Southey MC, Neuhausen S, Houdayer C, Fackenthal J, Hansen TV, Vega A, Diez O, Blok R, Claes K, Wappenschmidt B, Walker L, Spurdle AB, Brown MA; ENIGMA consortium. Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing. Clin Chem. 2014 Feb;60(2):341-52.

Wijers CH, de Blaauw I, Zwink N, Draaken M, van der Zanden LF, Brunner HG, Brooks AS, Hofstra RM, Sloots CE, Broens PM, Wijnen MH, Ludwig M, Jenetzky E, Reutter H, Marcelis CL, Roeleveld N, van Rooij IA. No major role for periconceptional folic acid use and its interaction with the MTHFR C677T polymorphism in the etiology of congenital anorectal malformations. Birth Defects Res A Clin Mol Teratol. 2014, 100:483-4492.

Witters I, De Groot R, Van Loo K, Willekens C, Coumans A, Frints S, Frijns JP, Baldewijns M. Tetralogy of Fallot with coronary artery to pulmonary artery fistula. Prenat Diagn. 2014 Dec;34(13):1345-6.

Yan XZ, Rathe F, Gilissen C, van der Zande M, Veltman J, Junker R, Yang F, Jansen JA, Walboomers XF. The effect of enamel matrix derivative (Emdogain®) on gene expression profiles of human primary alveolar bone cells. Journal of Tissue Engineering and Regenerative Medicine, 2014, 8: 463-72.

van Zelst-Stams WA, Scheffer H, Veltman JA. Clinical exome sequencing in daily practice: 1,000 patients and beyond. Genome Medicine, 2014, 6: 2.

COMPLEX GENETICS

Antoniou EE, Fowler T, Thiery E, Southwood TR, van Gestel S, Jacobs N, Vlietinck R, van Os J, Rijsdijk FV, Derom C, Zeegers MP. Intrauterine environment and cognitive development in young twins. J Dev Orig Health Dis. 2013, 4(6):513-21.

Antoniou EE, Fowler T, Reed K, Southwood TR, McCleery JP, Zeegers MP. Maternal pre-pregnancy weight and externalising behaviour problems in preschool children: a UK-based twin study. BMJ Open. 2014 Oct 14;4(10):e005974.

Bryan RT, Cheng KK, James ND, Zeegers MP, Wallace DM. Re: Defining Progression in Nonmuscle Invasive Bladder Cancer: It is Time for a New, Standard Definition D. Lamm, R Persad, M Brausi, R Buckley, JA Witjes, J Palou, A Böhle, AM Kamat, M Colombel and M Soloway J Urol 2014;191:20-27.

Bryan RT, Shimwell NJ, Wei W, Devall AJ, Pirrie SJ, James ND, Zeegers MP, Cheng KK, Martin A, Ward DG. Urinary EpCAM in urothelial bladder cancer patients: characterisation and evaluation of biomarker potential. Br J Cancer. 2014 Feb 4;110(3):679-85.

Gielen M, Hageman G, Pachen D, Derom C, Vlietinck R, Zeegers M. Placental telomere length decreases with gestational age and is influenced by parity: A study of third trimester live-born twins.Placenta. 2014, 35(10):791-6.

Gielen M, Westerterp-Plantenga MS, Bouwman FG, Joosen AM, Vlietinck R, Derom C, Zeegers MP, Mariman EC, Westerterp KR. Heritability and genetic etiology of habitual physical activity: a twin study with objective measures. Genes Nutr. 2014 Jul;9(4):415.

Rafnar T, Sulem P, Thorleifsson G, Vermeulen SH, Helgason H, Saemundsdottir J, Gudjonsson SA, Sigurdsson A, Stacey SN, Gudmundsson J, Johannsdottir H, Alexiusdottir K, Petursdottir V, Nikulasson S, Geirsson G, Jonsson T, Aben KK, Grotenhuis AJ, Verhaegh GW, Dudek AM, Witjes JA, van der Heijden AG, Vrieling A, Galesloot TE, De Juan A, Panadero A, Rivera F, Hurst C, Bishop DT, Sak SC, Choudhury A, Teo MT, Arici C, Carta A, Toninelli E, de Verdier P, Rudnai P, Gurzau E, Koppova K, van der Keur KA, Lurkin I, Goossens M, Kellen E, Guarrera S, Russo A, Critelli R, Sacerdote C, Vineis P, Krucker C, Zeegers MP, Gerullis H, Ovsiannikov D, Volkert F, Hengstler JG, Selinski S, Magnusson OT, Masson G, Kong A, Gudbjartsson D, Lindblom A, Zwarthoff E, Porru S, Golka K, Buntinx F, Matullo G, Kumar R, Mayordomo JI, Steineck DG, Kiltie AE, Jonsson E, Radvanyi F, Knowles MA, Thorsteinsdottir U, Kiemeney LA, Stefansson K. Genome-wide association study yields variants at 20p12.2 that associate with urinary bladder cancer. Hum Mol Genet. 2014 Oct 15;23(20):5545-57.

Spooren CE, Pierik MJ, Zeegers MP, Feskens EJ, Masclee AA, Jonkers DM. Letter: Role of diet in the onset and relapse of inflammatory bowel disease from the patients' perspective - authors' reply. Aliment Pharmacol Ther. 2014;39(3):340-1.

Stratakis N, Gielen M, Chatzi L, Zeegers M. Effect of maternal n-3 long-chain polyunsaturated fatty acid supplementation during pregnancy and/or lactation on adiposity in childhood: a systematic review and meta-analysis of randomized controlled trials. Eur J Clin Nutr. 2014 Dec;68(12):1277-1287.

Verhaegh BP, Jonkers DM, Driessen A, Zeegers MP, Keszthelyi D, Masclee AA, Pierik MJ. Incidence of microscopic colitis in the Netherlands. A nationwide population-based study from 2000 to 2012. Dig Liver Dis. 2015 Jan;47(1):30-6.

de Vries PS, Gielen M, Rizopoulos D, Rump P, Godschalk R, Hornstra G, Zeegers MP. Association between polyunsaturated fatty acid concentrations in maternal plasma phospholipids during pregnancy and offspring adiposity at age 7: The MEFAB cohort. Prostaglandins Leukot Essent Fatty Acids. 2014, 91 (3): 81-5.

Vinceti M, Dennert G, Crespi CM, Zwahlen M, Brinkman M, Zeegers MP, Horneber M, D'Amico R, Del Giovane C. Selenium for preventing cancer. Cochrane database Syst. Rev. 2014 Mar 30;3.

PUBLIC HEALTH GENOMICS

Asner SA1, Morré SA, Bochud PY, Greub G. Host factors and genetic susceptibility for infections due to intracellular bacteria and fastidious organisms. Clin Microbiol Infect. 2014 Dec;20(12):1246-53. doi: 10.1111/1469-0691.12806. Epub  2014 Dec 18

Bahar Taneri, Mevhibe B, Hocaoglu, Angela Brand & Jim van Os. Genotype-based prevention of psychosis onset and schizophrenia: a personalized approach in a target population. Pers. Med.(2014) 11(2), 167–172

Denis Horgan, Marleen Jansen, Lada Leyens, Jonathan A. Lal, Ralf Sudbrak, Erica Hackenitz, Ulrike Bußhoff, Wolfgang Ballensiefen, Angela Brand. An Index of Barriers for the Implementation of Personalised Medicine and Pharmacogenomics in Europe. Public Health Genomics 2014;17:287–298. Published online: November 15, 2014

Leyens L, Horgan H, Lal JA, Steinhausen K, Satyamoorthy K, Brand A. Working towards personalization in medicine: main obstacles to reaching this vision from today’s perspective. Personalized Medicine 2014, 11(7):641-649.

Kristien De Puysseleyr, Leentje De Puysseleyr, Hendrik Dhondt, Tom Geens, Lutgart Braeckman, Servaas A Morré, Eric Cox and Daisy Vanrompay. Evaluation of the presence and zoonotic transmission of Chlamydia suis in a pig slaughterhouse.  BMC Infect Dis. 2014;14(1): 560. Published online Oct 30, 2014

Peters RP, Dubbink JH, van der Eem L, Verweij SP, Bos ML, Ouburg S, Lewis DA, Struthers H, McIntyre JA, Morré SA. Cross-sectional study of genital, rectal, and pharyngeal Chlamydia and gonorrhea in women in rural South Africa. Sex Transm Dis. 2014 Sep;41(9):564-9.

F. van Aar, M. de Moraes, S.A. Morré, J.E.A.M. van Bergen, F van der Klis, J Land, M.A.B. van der Sande, I.V.F van den Broek. Chlamydia trachomatis IgG seroprevalence in the general population of the Netherlands in 1996 and in 2007: differential changes by gender and age. Sex Transm Infect. 2014 Feb 28

Mufadhal Al-Kuhlani, James Rothchild, Sukumar Pal, Luis de la Maza, Sander Ouburg, Servaas A. Morré, Deborah Dean, and David Ojcius. TRAIL-R1 is a negative regulator of pro-inflammatory responses and modulates long-term sequelae resulting from Chlamydia trachomatis infections in humans. PLoS One. 2014 Apr 2;9(4):e93939.

Brankovic I, Malogajski J, Morré SA.Biobanking and translation of human genetics and genomics for infectious diseases. Appl.Translational Genomics (2014), doi.org/10.1016/j.atg.2014.04.001.

Chantal Broers, Reinoud Gemke, Servaas A. Morré, Michel Weijerman, and A van Furth. Increased production of interleukin-10 in Down syndrome children upon ex-vivo stimulation with S.pneumoniae. Pediatric Research,. Pediatr Res. 2014 Jan;75(1-1):109-13.

Hafen E, Kossmann D, Brand A. Health Data Cooperatives - Citizen Empowerment. Methods Inf Med. 2014 Feb 11;53(2) 82-6. doi: 10.3414/ME13-02-0051. Epub  2014 Feb 11.

Evangelina Lopez de Maturana, Stephen J Chanok, Antoni C Picornell, Nathaniel Rothman,Jesus Herranz, M Luz Calle, Montserrat Garcia-Closas, Gaelle Marenne, Angela Brand, Adonina Tardon, Alfredo Carrato, Debra T Silverman, Manolis Kogevinas, Daniel Gianola, Francisco X Real, Nuria Malats. Whole Genome Prediction of Bladder Cancer Risk with Bayesian Lasso. Genetic Epidemiology 2014 May 5. doi: 10.1002/gepi.21809. 2014 Jul;38(5):467-76

Jonathan A Lal, Servaas A Morré & Angela Brand. The overarching framework of translation and integration in healthcare: a case for the LAL model. Personalized Medicine, (2014) 11(1), 41-62.

Pereboom MT, Spelten ER, Manniën J, Rours GI, Morré SA, Schellevis FG, Hutton EK. Knowledge and acceptability of Chlamydia trachomatis screening among pregnant women and their partners; a cross-sectional study. BMC Public Health 2014 Jul 9;14(1):704. doi: 10.1186/1471-2458-14-704.

Verweij SP, Lanjouw E, Bax CJ, Quint KD, Oostvogel PM, Dörr PJ, Pleijster J, de Vries HJ, Peters RP, Ouburg S, Morré SA. Serovar D and E of serogroup B induce highest serological responses in urogenital Chlamydia trachomatis infections.BMC Infect Dis. 2014 Jan 2;14(1):3.

de Viron S, Morré SA, Van Oyen H, Brand A, Ouburg S. Genetic similarities between tobacco use and related disorders: an exploratory study. BMC Medical Genetics 2014 Jul 24;15(1):85. doi: 10.1186/1471-2350-15-85.

Editorial material  George P. Patrinos, Angela Brand, Joins Forces with the Genomic Medicine Alliance. Public Health Genomics 2014;17:125-126 DOI:10.1159/000363559. Published online: June 13, 2014.

Congress paper 

Sejersen T, Giovane CD, Filippini G, Leo CG, Meerpohl JJ, Mincarone P, Minozzi S, Sabina S, Schünemann H, Senecat J, Taruscio D and the RARE-Bestpractices consortium. Methodology for production of best practice guidelines for rare diseases. Rare Diseases and Orphan Drugs 2014, 1(1):10-19

Congress paper  Taruscio D, Morciano C, Laricchiuta P, Mincarone P, Palazzo F, Leo CG, Sabina S, Guarino R, Auld J, Sejersen T, Gavhed D, Ritchie K, Hilton-Boon M, Manson J, Kanavos PG, Nicod E, Tordrup D, Angelis A, Cam YL, Ensini M, Senecat J, Filippini G, Minozzi S, Giovane CD, Schünemann H, Meerpohl JJ, Prediger B, Schell L, Stefanov R, Iskrov G, Miteva-Katrandzhieva T, Serrano-Aguilar P, Perestelo-Perez L, Trujillo-Martín MM, Pérez-Ramos J, Rivero-Santana A, Brand A, Lal J, van Kranen H, Bushby K, Atalaia A, Ramet J, Siderius L, Posada M, Abaitua-Borda I, Alonso Ferreira V, HensPérez V. RARE-Bestpractices: a platform for sharing best practices for the management of rare diseases. Rare Diseases and Orphan Drugs 2014, 1(1):5-9.