Publications 2017

Publications 2015

MOLECULAR GENETICS

Abdurrachim D, Luiken JJ, Nicolay K, Glatz JF, Prompers JJ, Nabben M. Good and bad consequences of altered fatty acid metabolism in heart failure: evidence from mouse models. Cardiovasc Res. 2015 May 1;106(2):194-205.

Bank IE, Dekker MS, Hoes AW, Zuithoff NP, Verheggen PW, de Vrey EA, Wildbergh TX, Timmers L, de Kleijn DP, Glatz JF, Mosterd A. Suspected acute coronary syndrome in the emergency room: Limited added value of heart type fatty acid binding protein point of care or ELISA tests: The FAME-ER (Fatty Acid binding protein in Myocardial infarction Evaluation in the Emergency Room) study. Eur Heart J Acute Cardiovasc Care. 2015 Apr 23.

Bonen A, Jain SS, Snook LA, Han XX, Yoshida Y, Buddo KH, Lally JS, Pask ED, Paglialunga S, Beaudoin MS, Glatz JF, Luiken JJ, Harasim E, Wright DC, Chabowski A, Holloway GP. Extremely rapid increase in fatty acid transport and intramyocellular lipid accumulation but markedly delayed insulin resistance after high fat feeding in rats. Diabetologia. 2015 Oct;58(10):2381-9.

Brandsma E, Houben T, Fu J, Shiri-Sverdlov R, Hofker MH.The immunity-diet-microbiota axis in the development of metabolic syndrome. Curr Opin Lipidol. 2015 Apr;26(2):73-81.

van Ewijk PA, Schrauwen-Hinderling VB, Bekkers SC, Glatz JF, Wildberger JE, Kooi ME. MRS: a noninvasive window into cardiac metabolism. NMR Biomed. 2015 Jul;28(7):747-66.

van Ewijk PA, Paglialunga S, Kooi ME, Nunes PM, Gemmink A, Slenter J, Kornips E, Jörgensen JA, Hoeks J, Wildberger JE, Hesselink MK, Glatz JF, Heerschap A, Kersten S, Schrauwen P, Schrauwen-Hinderling VB.Effects of high-fat feeding on ectopic fat storage and postprandial lipid metabolism in mouse offspring. Obesity (Silver Spring). 2015 Nov;23(11):2242-50.

Franekova V, Angin Y, Hoebers NT, Coumans WA, Simons PJ, Glatz JF, Luiken JJ, Larsen TS. Marine omega-3 fatty acids prevent myocardial insulin resistance and metabolic remodeling as induced experimentally by high insulin exposure. Am J Physiol Cell Physiol. 2015 Feb 15;308(4):C297-307.

Glatz JF. Spotlight on cellular lipid binding proteins.Prostaglandins Leukot Essent Fatty Acids. 2015 Feb;93:1.

Glatz JF. Lipids and lipid binding proteins: a perfect match. Prostaglandins Leukot Essent Fatty Acids. 2015 Feb;93:45-9.

Glatz JF, Luiken JJ. Fatty acids in cell signaling: historical perspective and future outlook. Prostaglandins Leukot Essent Fatty Acids. 2015 Jan;92:57-62.

Gruben N, Funke A, Kloosterhuis NJ, Schreurs M, Sheedfar F, Havinga R, Houten SM, Shiri-Sverdlov R, van de Sluis B, Kuivenhoven JA, Koonen DP, Hofker MH. Cholesterol-induced hepatic inflammation does not underlie the predisposition to insulin resistance in dyslipidemic female LDL receptor knockout mice. J Diabetes Res. 2015;2015:956854.

Hendrikx T, Jeurissen ML, van Gorp PJ, Gijbels MJ, Walenbergh SM, Houben T, van Gorp R, Pöttgens CC, Stienstra R, Netea MG, Hofker MH, Donners MM, Shiri-Sverdlov R. Bone marrow-specific caspase-1/11 deficiency inhibits atherosclerosis development in Ldlr-/- mice. FEBS J. 2015 Jun;282(12):2327-38.

Jacobs LH, van Borren M, Gemen E, van Eck M, van Son B, Glatz JF, Daniels M, Kusters R. Rapidly rule out acute myocardial infarction by combining copeptin and heart-type fatty acid-binding protein with cardiac troponin. Ann Clin Biochem. 2015 Sep;52(Pt 5):550-61.

Jain SS, Luiken JJ, Snook LA, Han XX, Holloway GP, Glatz JF, Bonen A. Fatty acid transport and transporters in muscle are critically regulated by Akt2. FEBS Lett. 2015 Sep 14;589(19 Pt B):2769-75.

Li J, Chanda D, Shiri-Sverdlov R, Neumann D. MSP: an emerging player in metabolic syndrome. Cytokine Growth Factor Rev. 2015 Feb;26(1):75-82.

Luiken JJ, Glatz JF, Neumann DCardiac contraction-induced GLUT4 translocation requires dual signaling input. Trends Endocrinol Metab. 2015 Aug;26(8):404-10.

Neumann D, Luiken JJ, Nabben M, Glatz JF. Letter by Neumann et al. regarding article 'Myostatin regulates energy homeostasis in the heart and prevents heart failure". Circ Res: 2015; 116(10):e95-6.

Oligschlaeger Y, Miglianico M, Chanda D, Scholz R, Thali RF, Tuerk R, Stapleton DI, Gooley PR, Neumann D. The Recruitment of AMP-activated Protein Kinase to Glycogen Is Regulated by Autophosphorylation. J Biol Chem. 2015 May 1;290(18):11715-28.

Prickaerts P, Niessen HE, Dahlmans VE, Spaapen F, Salvaing J, Vanhove J, Geijselaers C, Bartels SJ, Partouns I, Neumann D, Speel EJ, Takihara Y, Wouters BG, Voncken JW. MK3 modulation affects BMI1-dependent and independent cell cycle check-points. PLoS One. 2015 Apr 8;10(4):e0118840

Tekin IO, Oral HB, Shiri-Sverdlov R. Mediators of gut mucosal immunity and inflammation. Mediators Inflamm. 2015;2015:765303.

Walenbergh SM, Houben T, Hendrikx T, Jeurissen ML, van Gorp PJ, Vreugdenhil AC, Adriaanse MP, Buurman WA, Hofker MH, Mosca A, Lindsey PJ, Alisi A, Liccardo D, Panera N, Koek GH, Nobili V, Shiri-Sverdlov R. Plasma cathepsin D levels: a novel tool to predict pediatric hepatic inflammation. Am J Gastroenterol. 2015 Mar;110(3):462-70.

Walenbergh SM, Houben T, Hendrikx T, Jeurissen ML, van Gorp PJ, Vaes N, Olde Damink SW, Verheyen F, Koek GH, Lütjohann D, Grebe A, Latz E, Shiri-Sverdlov RWeekly Treatment of 2-Hydroxypropyl-β-cyclodextrin Improves Intracellular Cholesterol Levels in LDL Receptor Knockout Mice. Int J Mol Sci. 2015 Sep 2;16(9):21056-69. 

Walenbergh SMShiri-Sverdlov RCholesterol is a significant risk factor for non-alcoholic steatohepatitis. Expert Rev Gastroenterol Hepatol. 2015;9(11):1343-6.

Wang Y, van der Tuin S, Tjeerdema N, van Dam AD, Rensen SS, Hendrikx T, Berbée JF, Atanasovska B, Fu J, Hoekstra M, Bekkering S, Riksen NP, Buurman WA, Greve JW, Hofker MH,Shiri-Sverdlov R, Meijer OC, Smit JW, Havekes LM, van Dijk KW, Rensen PC. Plasma cholesteryl ester transfer protein is predominantly derived from Kupffer cells. Hepatology. 2015 Jul 14.

Willemsen RT, van Severen E, Vandervoort PM, Grieten L, Buntinx F, Glatz JF, Dinant GJ. Heart-type fatty acid binding protein (H-FABP) in patients in an emergency department setting, suspected of acute coronary syndrome: Optimal cut-off point, diagnostic value and future opportunities in primary care. Eur J Gen Pract. 2015 Sep;21(3):156-63. 

Wolfs MG, Gruben N, Rensen SS, Verdam FJ, Greve JW, Driessen A, Wijmenga C, Buurman WA, Franke L, Scheja L, Koonen DP, Shiri-Sverdlov R, van Haeften TW, Hofker MH, Fu J. Determining the association between adipokine expression in multiple tissues and phenotypic features of non-alcoholic fatty liver disease in obesity. Nutr Diabetes. 2015 Feb 9;5:e146.

MOLECULAR CELL BIOLOGY

Aelst van LNL, Voss S, Carai P, Leeuwen van R, Vanhoutte D, Sanders-van Wijk S, Eurlings L, Swinnen M, Verheyen FK, Verbeken E, Nef H, Troidl C, Cook SA, Brunner-La Rocca H-P, Möllmann H, Papageorgiou A-P, Heymans S. Osteoglycin prevents cardiac dilatation and dysfunction after myocardial infarction through infarct collagen strengthening. Circulation Research 2015; 116: 425-436.

Alexander BE, Achlatis M, Osinga R, Geest van der HG, Cleutjens JPM, Schutte B, Goeij de JM. Cell kinetics during regeneration in the sponge Halisarca caerulea: how local is the response to tissue damage? PeerJ 2015; 3: e820 [19 pages].

Corsten M, Heggermont W, Papageorgiou A-P, Deckx S, Tijsma A, Verhesen W, Leeuwen van R, Carai P, Thibaut H-J, Custers K, Summer G, Hazebroek M, Verheyen F, Neyts J, Schroen B, Heymans S. The microRNA-221/-222 cluster balances the antiviral and inflammatory response in viral myocarditis. European Heart Journal 2015; 36: 2909-2919.

Curaj A, Wu Z, Fokong S, Liehn EA, Weber C, Burlacu A, Lammers T, Zandvoort van M, Kiessling F. Noninvasive molecular ultrasound monitoring of vessel healing after intravascular surgical procedures in a preclinical setup. Arteriosclerosis, Thrombosis, and Vascular Biology 2015; 35; 1366-1373.

Hendrikx T, Jeurissen MLJ,. Bieghs V, Walenbergh SMA, Gorp van PJ, Verheyen F, Houben T, Guichot YD, Gijbels MJJ, Leitersdorf E, Hofker MH, Lütjohann D, Shiri-Sverdlov R. Hematopoietic overexpression of Cyp27a1 reduces hepatic inflammation independently of 27-hydroxycholesterol levels in Ldlr-/- mice. Journal of Hepatology 2015; 62: 430-436.

Jurak E, Patyshakuliyeva A, Kapsokalyvas D, Xing L, Zandvoort van MAMJ, Vries de RP, Gruppen H, Kabel MA. Accumulation of recalcitrant xylan in mushroom-compost is due to a lack of xylan substituent removing enzyme activities of Agaricus bisporus. Carbohydrate Polymers 2015; 132: 359-368.

Lammers T, Koczera P, Fokong S, Gremse F, Ehling J, Vogt M, Pich A, Storm G, Zandvoort van MAMJ, Kiessling F. Theranostic USPIO-loaded microbubbles for mediating and monitoring blood-brain barrier permeation. Advanced functional materials 2015; 25: 36-43.

Mertens ME, Koch S, Schuster P, Wehner J, Wu Z, Gremse F, Schulz V, Rongen L, Wolf F, Frese J, Gesché VN, Zandvoort van M, Mela P, Jockenhoevel S, Kiessling F, Lammers T. USPIO-labeled textile materials for non-invasive MR imaging of tissue-engineered vascular grafts. Biomaterials 2015; 39: 155-163.

Olthof NC, Huebbers CU, Kolligs J, Henfling MRamaekers FCS, Cornet I, Lent-Albrechts van JA, Stegmann APA, Silling S, Wieland U, Carey TE, Walline HM, Gollin SM, Hoffmann TK, Winter de J, Kremer B, Klussmann JP, Speel E-JM. Viral load, gene expression and mapping of viral integration sites in HPV16-associated HNSCC cell lines. International Journal of Cancer 2015; 136: E207-E218.

Shi Y, Kunjachan S, Wu Z, Gremse F, Moeckel D, Zandvoort van M, Kiessling F, Storm G, Nostrum van CF, Hennink WE, Lammers T. Fluorophore-labeling of core-crosslinked polymeric micelles for multimodal in vivo and ex vivo optical imaging. Nanomedicine 2015; 10: 1111-1125.

Sieprath T, Corne TDJ, Nooteboom M, Grootaert C, Rajkovic A, Buysschaert B, Robijns J, Broers JLV, Ramaekers FCS, Koopman WJH, Willems PHGM, De Vos WH. Sustained accumulation of prelamin A and depletion of lamin A/C both cause oxidative stress and mitochondrial dysfunction but induce different cell fates. Nucleus 2015; 6: 236-246.

Swarts DRA, Ramaekers FCS, E-JM Speel. Gene expression profiling of pulmonary neuroendocrine neoplasms: A comprehensive overview. Cancer Treatment Communications 2015; 4: 148-160.

Walenbergh SMA, Houben T, Hendrikx T, Jeurissen MLJ, Gorp van PJ, Vaes N, Olde Damink SWM, Verheyen F, Koek GH, Lütjohann D, Grebe A, Latz E, Shiri-Sverdlov R. Weekly Treatment of 2-Hydroxypropyl-β-cyclodextrin Improves Intracellular Cholesterol Levels in LDL Receptor Knockout Mice. International Journal of Molecular Sciences 2015; 16: 21056-21069.

CLINICAL GENETICS

Acuna-Hidalgo R, Bo T, Kwint MP, van de Vorst M, Pinelli M, Veltman JA, Hoischen A, Vissers LE, Gilissen C. Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation. Am J Hum Genet. 2015 Jul 2;97(1):67-74.

Arts P, Plantinga TS, van den Berg JM, Gilissen C, Veltman JA, van Trotsenburg AS, van de Veerdonk FL, Kuijpers TW, Hoischen A, Netea MG. A missense mutation underlies defective SOCS4 function in a family with autoimmunity. J Intern Med. 2015 Aug;278(2):203-10.

Baur LH, Schreurs WM, van Leeuwen-Wintjes HR, Berendsen CL, Willems R, Winkens RA, Vliegen R, Theunissen P, Gomez Garcia EB. A white raven detected by imaging. Neth Heart J. 2015 Jun 2.

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. 2015 Jan 14;36(3):179-86.

Blanco I, Kuchenbaecker K, Cuadras D, Wang X, Barrowdale D, de Garibay GR, Librado P, Sánchez-Gracia A, Rozas J, Bonifaci N, McGuffog L, Pankratz VS, Islam A, Mateo F, Berenguer A, Petit A, Català I, Brunet J, Feliubadaló L, Tornero E, Benítez J, Osorio A, Ramón y Cajal T, Nevanlinna H, Aittomäki K, Arun BK, Toland AE, Karlan BY, Walsh C, Lester J, Greene MH, Mai PL, Nussbaum RL, Andrulis IL, Domchek SM, Nathanson KL, Rebbeck TR, Barkardottir RB, Jakubowska A, Lubinski J, Durda K, Jaworska-Bieniek K, Claes K, Van Maerken T, Díez O, Hansen TV, Jønson L, Gerdes AM, Ejlertsen B, de la Hoya M, Caldés T, Dunning AM, Oliver C, Fineberg E, Cook M, Peock S, McCann E, Murray A, Jacobs C, Pichert G, Lalloo F, Chu C, Dorkins H, Paterson J, Ong KR, Teixeira MR; Teixeira, Hogervorst FB, van der Hout AH, Seynaeve C, van der Luijt RB, Ligtenberg MJ, Devilee P, Wijnen JT, Rookus MA, Meijers-Heijboer HE, Blok MJ, van den Ouweland AM, Aalfs CM, Rodriguez GC, Phillips KA, Piedmonte M, Nerenstone SR, Bae-Jump VL, O'Malley DM, Ratner ES, Schmutzler RK, Wappenschmidt B, Rhiem K, Engel C, Meindl A, Ditsch N, Arnold N, Plendl HJ, Niederacher D, Sutter C, Wang-Gohrke S, Steinemann D, Preisler-Adams S, Kast K, Varon-Mateeva R, Gehrig A, Bojesen A, Pedersen IS, Sunde L, Jensen UB, Thomassen M, Kruse TA, Foretova L, Peterlongo P, Bernard L, Peissel B, Scuvera G, Manoukian S, Radice P, Ottini L, Montagna M, Agata S, Maugard C, Simard J, Soucy P, Berger A, Fink-Retter A, Singer CF, Rappaport C, Geschwantler-Kaulich D, Tea MK, Pfeiler G; BCFR, John EM, Miron A, Neuhausen SL, Terry MB, Chung WK, Daly MB, Goldgar DE, Janavicius R, Dorfling CM, van Rensburg EJ, Fostira F, Konstantopoulou I, Garber J, Godwin AK, Olah E, Narod SA, Rennert G, Paluch SS, Laitman Y, Friedman E; SWE-BRCA, Liljegren A, Rantala J, Stenmark-Askmalm M, Loman N, Imyanitov EN, Hamann U; kConFab Investigators, Spurdle AB, Healey S, Weitzel JN, Herzog J, Margileth D, Gorrini C, Esteller M, Gómez A, Sayols S, Vidal E, Heyn H; GEMO, Stoppa-Lyonnet D, Léoné M, Barjhoux L, Fassy-Colcombet M, de Pauw A, Lasset C, Ferrer SF, Castera L, Berthet P, Cornelis F, Bignon YJ, Damiola F, Mazoyer S, Sinilnikova OM, Maxwell CA, Vijai J, Robson M, Kauff N, Corines MJ, Villano D, Cunningham J, Lee A, Lindor N, Lázaro C, Easton DF, Offit K, Chenevix-Trench G, Couch FJ, Antoniou AC, Pujana MA. Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers. PLoS One. 2015 Apr 1;10(4):e0120020.

Bodelier AG, Smolinska A, Baranska A, Dallinga JW, Mujagic Z, Vanhees K, van den Heuvel T, Masclee AA, Jonkers D, Pierik MJ, van Schooten FJ. Volatile Organic Compounds in Exhaled Air as Novel Marker for Disease Activity in Crohn's Disease: A Metabolomic Approach. Inflamm Bowel Dis. 2015 Aug;21(8):1776-85.

Bolman C, Eggers SM, van Osch L, Te Poel F, Candel M, de Vries H. Is Action Planning Helpful for Smoking Cessation? Assessing the Effects of Action Planning in a Web-Based Computer-Tailored Intervention. Subst Use Misuse. 2015; 50(10):1249-60.

Brinkhuizen T, van Geel M, Denil SL, De Meyer T, Kelleners NW, Lohuis PJ, Hoebers FJ, Winnepenninckx VJ, van Steensel MA, Mosterd K. Locally advanced basal cell carcinoma has a distinct methylation and transcriptomic profile. Exp Dermatol. 2015 Dec 14.

ten Broeke SW, Brohet RM, Tops CM, van der Klift HM, Velthuizen ME, Bernstein I, Capellá Munar G, Gomez Garcia 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. 2015; 33:319-25.

Büll C, Heise T, Beurskens DM, Riemersma M, Ashikov A, Rutjes FP, van Kuppevelt TH, Lefeber DJ, den Brok MH, Adema GJ, Boltje TJ. Sialic Acid Glycoengineering Using an Unnatural Sialic Acid for the Detection of Sialoglycan Biosynthesis Defects and On-Cell Synthesis of Siglec Ligands. ACS Chem Biol. 2015 Oct 16;10(10):2353-63.

Bunn KJ, Daniel P, Rosken HS, O'Neill AC, Cameron-Christie SR, Morgan T, Brunner HG, Lai A, Kunst HP, Markie DM, Robertson SP. Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome. Am J Hum Genet. 2015 Apr 2;96(4):623-30.

Burrage LC, Charng WL, Eldomery MK, Willer JR, Davis EE, Lugtenberg D, Zhu W, Leduc MS, Akdemir ZC, Azamian M, Zapata G, Hernandez PP, Schoots J, de Munnik SA, Roepman R, Pearring JN, Jhangiani S, Katsanis N, Vissers LE, Brunner HG, Beaudet AL, Rosenfeld JA, Muzny DM, Gibbs RA, Eng CM, Xia F, Lalani SR, Lupski JR, Bongers EM, Yang Y. De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. Am J Hum Genet. 2015 Dec 3;97(6):904-13.

Carvalho CMB, Pfundt R, King DA, Lindsay SJ, Zuccherato LW, Macville MVE, Liu P, Johnson D, Stankiewicz P, Brown CW, DDD Study, Shaw CA, Hurles ME,  Ira G, Hastings PJ, Brunner HG, Lupski JR. Absence of heterozygosity due to template switching during replicative rearrangements. Epub 2015 March 19, Am  J Hum Genet  96:555-64, 2015.

Chaudhry A, Noor A, Degagne B, Baker K, Bok LA, Brady AF, Chitayat D, ChungBH, Cytrynbaum C, Dyment D, Filges I, Helm B, Hutchison HT, Jeng LJ, LaumonnierF, Marshall CR, Menzel M, Parkash S, Parker MJ; DDD Study, Raymond LF, RideoutAL, Roberts W, Rupps R, Schanze I, Schrander-Stumpel CT, Speevak MD, StavropoulosDJ, Stevens SJ, Thomas ER, Toutain A, Vergano S, Weksberg R, Scherer SW, Vincent JB, Carter MT. Phenotypic spectrum associated with PTCHD1 deletions andtruncating mutations includes intellectual disability and autism spectrumdisorder. Clin Genet. 2015 Sep;88(3):224-33.

Claes GR, van Tienen FH, Lindsey P, Krapels IP, Helderman-van den Enden AT, Hoos MB, Barrois YE, Janssen JW, Paulussen AD, Sels JE, Kuijpers SH, van Tintelen JP, van den Berg MP, Heesen WF, Garcia-Pavia P, Perrot A, Christiaans I, Salemink S, Marcelis CL, Smeets HJ, Brunner HG, Volders PG, van den Wijngaard A. Hypertrophic remodelling in cardiac regulatory myosin light chain (MYL2) founder mutation carriers. Eur Heart J. 2015 Oct 24.

Costamagna D, Quattrocelli M, van Tienen F, Umans L, de Coo IF, Zwijsen A, Huylebroeck D, Sampaolesi M. mad1/5/8 are myogenic regulators of murine and human mesoangioblasts. J Mol Cell Biol. 2015 Oct 8. 

Duryan M, Nikolik D, van Merode G, Curfs LM. Reflecting on the efficacy of cognitive mapping for decision-making in intellectual disability care: a case study. Int J Health Plann Manage. 2015 Apr-Jun;30(2):127-44.

Eccles D, Mitchell G, Monteiro AN, Schmutzler R, Couch FJ, Spurdle AB, Gómez-García EB; ENIGMA Clinical Working Group. BRCA1 and BRCA2 genetic testing - pitfalls and recommendations for managing variants of uncertain clinical significance. Ann Oncol. 2015 26:2057-65.

Evers LJ, van Amelsvoort TA, Bakker JA, de Koning M, Drukker M, Curfs LM. Glutamatergic markers, age, intellectual functioning and psychosis in 22q11 deletion syndrome. Psychopharmacology (Berl). 2015 Sep;232(18):3319-25.

Falk MJ, Shen L, Gonzalez M, Leipzig J, Lott MT, Stassen AP, Diroma MA, Navarro-Gomez D, Yeske P, Bai R, Boles RG, Brilhante V, Ralph D, DaRe JT, Shelton R, Terry SF, Zhang Z, Copeland WC, van Oven M, Prokisch H, Wallace DC, Attimonelli M, Krotoski D, Zuchner S, Gai X; MSeqDR Consortium Participants; MSeqDR Consortium participants: Sherri Bale, Jirair Bedoyan, Doron Behar, Penelope Bonnen, Lisa Brooks, Claudia Calabrese, Sarah Calvo, Patrick Chinnery, John Christodoulou, Deanna Church,; Rosanna Clima, Bruce H. Cohen, Richard G. Cotton, IFM de Coo, Olga Derbenevoa, Johan T. den Dunnen, David Dimmock, Gregory Enns, Giuseppe Gasparre,; Amy Goldstein, Iris Gonzalez, Katrina Gwinn, Sihoun Hahn, Richard H. Haas, Hakon Hakonarson, Michio Hirano, Douglas Kerr, Dong Li, Maria Lvova, Finley Macrae, Donna Maglott, Elizabeth McCormick, Grant Mitchell, Vamsi K. Mootha, Yasushi Okazaki,; Aurora Pujol, Melissa Parisi, Juan Carlos Perin, Eric A. Pierce, Vincent Procaccio, Shamima Rahman, Honey Reddi, Heidi Rehm, Erin Riggs, Richard Rodenburg, Yaffa Rubinstein, Russell Saneto, Mariangela Santorsola, Curt Scharfe,; Claire Sheldon, Eric A. Shoubridge, Domenico Simone, Bert Smeets, Jan A. Smeitink, Christine Stanley, Anu Suomalainen, Mark Tarnopolsky, Isabelle Thiffault, David R. Thorburn, Johan Van Hove, Lynne Wolfe, and Lee-Jun Wong. Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities. Mol Genet Metab. 2015 Mar;114(3):388-96.

Gillian S. Townend, Peter B. Marschik, Eric Smeets, Raymond van de Berg, Mariёlle van den Berg, Leopold M.G. Curfs. Eye Gaze Technology as a Form of Augmentative and Alternative Communication for Individuals with Rett Syndrome: Experiences of Families in The Netherlands. Journal of Developmental and Physical Disabilities; 19 October 2015, pp 1-12.

van Gisbergen MW, Voets AM, Starmans MH, de Coo IF, Yadak R, Hoffmann RF, Boutros PC, Smeets HJ, Dubois L, Lambin P. How do changes in the mtDNA and mitochondrial dysfunction influence cancer and cancer therapy? Challenges, opportunities and models. Mutat Res Rev Mutat Res. 2015 Apr-Jun;764:16-30.

Groen BB, Horstman AM, Hamer HM, de Haan M, van Kranenburg J, Bierau J, Poeze M, Wodzig WK, Rasmussen BB, van Loon LJ. Post-Prandial Protein Handling: You Are What You Just Ate. PLoS One. 2015 Nov 10;10(11):e0141582.

Hazebroek MR, Moors S, Dennert R, van den Wijngaard A, Krapels I, Hoos M, Verdonschot J, Merken JJ, de Vries B, Wolffs PF, Crijns HJ, Brunner-La Rocca HP, Heymans S. Prognostic Relevance of Gene-Environment Interactions in Patients With Dilated Cardiomyopathy: Applying the MOGE(S) Classification. J Am Coll Cardiol. 2015 Sep 22;66(12):1313-23.

Heemskerk-Gerritsen BA, Seynaeve C, van Asperen CJ, Ausems MG, Collée JM, van Doorn HC, Gomez Garcia EB, Kets CM, van Leeuwen FE, Meijers-Heijboer HE, Mourits MJ, van Os TA, Vasen HF, Verhoef S, Rookus MA, Hooning MJ; Hereditary Breast and Ovarian Cancer Research Group Netherlands. Breast Cancer Risk After Salpingo-Oophorectomy in Healthy BRCA1/2 Mutation Carriers: Revisiting the Evidence for Risk Reduction. J Natl Cancer Inst. 2015 Mar 18;107(5).

Heemskerk-Gerritsen BA, Rookus MA, Aalfs CM, Ausems MG, Collée JM, Jansen L, Kets CM, Keymeulen KB, Koppert LB, Meijers-Heijboer HE, Mooij TM, Tollenaar RA, Vasen HF; HEBON, Hooning MJ, Seynaeve C. Improved overall survival after contralateral risk-reducing mastectomy in BRCA1/2 mutation carriers with a history of unilateral breast cancer: a prospective analysis. Int J Cancer. 2015 1;136:668-77.

Hehir-Kwa JY, Pfundt R, Veltman JA. Exome sequencing and whole genome sequencing for the detection of copy number variation. Expert Rev Mol Diagn. 2015 Aug;15(8):1023-32.

Hendrikx T, Walenbergh SM, Jeurissen MLj, Houben T, van Gorp PJ, Lindsey PJ, Koek GH, Kalhan S, Pihlajamaki J, Hofker MH, Shiri-Sverdlov R. Plasma IL-1 receptor antagonist levels correlate with the development of non-alcoholic steatohepatitis. Biomark Med. 2015 Dec;9(12):1301-9.

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Houwink EJ, Muijtjens AM, van Teeffelen SR, Henneman L, Rethans JJ, Jacobi F, van der Jagt L, Stirbu I, van Luijk SJ, Stumpel CT, Meijers-Heijboer HE, van der Vleuten C, Cornel MC, Dinant GJ. Effect of Comprehensive Oncogenetics Training Interventions for General Practitioners, Evaluated at Multiple Performance Levels. PLoS One. DOI:10.1371/journal.pone.0122648 April 2, 2015, 1-13.

Jansen AM, van Wezel T, van den Akker BE, Ventayol Garcia M, Ruano D, Tops CM, Wagner A, Letteboer TG, Gómez-García EB, Devilee P, Wijnen JT, Hes FJ, Morreau H. Combined mismatch repair and POLE/POLD1 defects explain unresolved suspected Lynch syndrome cancers.Eur J Hum Genet. 2015 Dec 9.

Janssen E, van Kann D, de Vries H, Lechner L, van Osch L. Sun protection during snow sports: an analysis of behavior and psychosocial determinants.Health Educ Res. 2015 Jun;30(3):380-7.

Janssen E, van Osch L, Lechner L, de Vries H. Influencing feelings of cancer risk: direct and moderator effects of affectively laden phrases in risk communication. J Health Commun. 2015;20(3):321-7.

Jhuraney A, Velkova A, Johnson RC, Kessing B, Carvalho RS, Whiley P, Spurdle AB, Vreeswijk MP, Caputo SM, Millot GA, Vega A, Coquelle N, Galli A, Eccles D, Blok MJ, Pal T, van der Luijt RB, Santamariña Pena M, Neuhausen SL, Donenberg T, Machackova E, Thomas S, Vallée M, Couch FJ, Tavtigian SV, Glover JN, Carvalho MA, Brody LC, Sharan SK, Monteiro AN; Evidence-based Network for the Interpretation of Germline Mutant Alleles Consortium. BRCA1 Circos: a visualisation resource for functional analysis of missense variants. J Med Genet. 2015 Apr;52(4):224-30.

Jóri B, Kamps R, Xanthoulea S, Delvoux B, Blok MJ, Van de Vijver KK, de Koning B, Trups Oei F, Tops CM, Speel EJ, Kruitwagen RF, Gomez-Garcia EB, Romano A. Germ-line variants identified by next generation sequencing in a panel of estrogen and cancer associated genes correlate with poor clinical outcome in Lynch syndrome patients. Oncotarget. 2015 Oct 22.

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Kevelam SH, Bierau J, Salvarinova R, Agrawal S, Honzik T, Visser D, Weiss MM, Salomons GS, Abbink TE, Waisfisz Q, van der Knaap MS. Recessive ITPA mutationscause an early infantile encephalopathy. Ann Neurol. 2015 Oct;78(4):649-58.

Körver-Keularts IM, de Visser M, Bakker HD, Wanders RJ, Vansenne F, Scholte HR, Dorland L, Nicolaes GA, Spaapen LM, Smeets HJ, Hendrickx AT, van den Bosch BJ. Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy. JIMD Rep. 2015; 22:39-45.

De Krom G, Arens YH, Coonen E, Van Ravenswaaij-Arts CM, Meijer-Hoogeveen M, Evers JL, Van Golde RJ, De Die-Smulders CE. Recurrent miscarriage in translocation carriers: no differences in clinical characteristics between couples who accept and couples who decline PGD. Hum Reprod. 2015 Feb;30(2):484-9.

Kuchenbaecker KB,….; HEBON, et al…Consortium of Investigators of Modifiers of BRCA1 and BRCA2. Identification of six new susceptibility loci for invasive epithelial ovarian cancer. Nat Genet. 2015;47:164-71.

Kuechler A, Willemsen MH, Albrecht B, Bacino CA, Bartholomew DW, van Bokhoven H, van den Boogaard MJ, Bramswig N, Buttner 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, Ludecke 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. 2015 Jan;134(1):97-109.

Kumar R, Corbett MA, Smith NJ, Jolly LA, Tan C, Keating DJ, Duffield MD, Utsumi T, Moriya K, Smith KR, Hoischen A, Abbott K, Harbord MG, Compton AG, Woenig JA, Arts P, Kwint M, Wieskamp N, Gijsen S, Veltman JA, Bahlo M, Gleeson JG, Haan E, Gecz J. Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder. Hum Mol Genet. 2015 Apr 1;24(7):2000-10.

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. Human Mutation, Vol. 36, No. 1, 69–78, 2015.

van der Lee R, Szklarczyk R, Smeitink J, Smeets HJ, Huynen MA, Vogel R. Transcriptome analysis of complex I-deficient patients reveals distinct expression programs for subunits and assembly factors of the oxidative phosphorylation system. BMC Genomics. 2015 Sep 15;16(1):691.

van der Lee R, Feng Q, Langereis MA, Ter Horst R, Szklarczyk R, Netea MG, Andeweg AC, van Kuppeveld FJ, Huynen MA. Integrative Genomics-Based Discovery of Novel Regulators of the Innate Antiviral Response. PLoS Comput Biol. 2015 Oct 20;11(10):e1004553.

Lelieveld SH, Spielmann M, Mundlos S, Veltman JA, Gilissen C. Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions. Hum Mutat. 2015 Aug;36(8):815-22.

López-Ayala JM, Boven L, van den Wijngaard A, Peñafiel-Verdú P, van Tintelen JP, Gimeno JR. Phospholamban p.arg14del mutation in a Spanish family with arrhythmogenic cardiomyopathy: evidence for a European founder mutation. Rev Esp Cardiol (Engl Ed). 2015 Apr;68(4):346-9.

Maas SM, Shaw AC, Bikker H, Lüdecke HJ, van der Tuin K, Badura-Stronka M, Belligni E, Biamino E, Bonati MT, Carvalho DR, Cobben J, de Man SA, Den Hollander NS, Di Donato N, Garavelli L, Grønborg S, Herkert JC, Hoogeboom AJ, Jamsheer A, Latos-Bielenska A, Maat-Kievit A, Magnani C, Marcelis C, Mathijssen IB, Nielsen M, Otten E, Ousager LB, Pilch J, Plomp A, Poke G, Poluha A, Posmyk R, Rieubland C, Silengo M, Simon M, Steichen E, Stumpel C, Szakszon K, Polonkai E, van den Ende J, van der Steen A, van Essen T, van Haeringen A, van Hagen JM, Verheij JB, Mannens MM, Hennekam RC. Phenotype and Genotype in 103 patients with Tricho-Rhino-Phalangeal Syndrome. May-2015, European Journal of Medical Genetics. 58, 5, p. 279-292.

Marchegiani S, Davis T, Tessadori F, van Haaften G, Brancati F, Hoischen A, Huang H, Valkanas E, Pusey B, Schanze D, Venselaar H, Vulto-van Silfhout AT, Wolfe LA, Tifft CJ, Zerfas PM, Zambruno G, Kariminejad A, Sabbagh-Kermani F, Lee J, Tsokos MG, Lee CC, Ferraz V, da Silva EM, Stevens CA, Roche N, Bartsch O, Farndon P, Bermejo-Sanchez E, Brooks BP, Maduro V, Dallapiccola B, Ramos FJ, Chung HY, Le Caignec C, Martins F, Jacyk WK, Mazzanti L, Brunner HG, Bakkers J, Lin S, Malicdan MC, Boerkoel CF, Gahl WA, de Vries BB, van Haelst MM, Zenker M, Markello TC. Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes. Am J Hum Genet. 2015 Jul 2;97(1):99-110.

Mariman EC, Bouwman FG, Aller EE, van Baak MA, Wang P. Extreme obesity is associated with variation in genes related to the circadian rhythm of food intake and hypothalamic signaling. Physiol Genomics. 2015 Jun;47(6):225-31.

Mariman EC, Szklarczyk R, Bouwman FG, Aller EE, van Baak MA, Wang P. Olfactory receptor genes cooperate with protocadherin genes in human extreme obesity. Genes Nutr. 2015 Jul;10(4):465.

Marsch E, Theelen TL, Janssen BJ, Briede JJ, Haenen GR, Senden JM, van Loon LJ, Poeze M, Bierau J, Gijbels MJ, Daemen MJ, Sluimer JC. The effect of prolongeddietary nitrate supplementation on atherosclerosis development. Atherosclerosis. 2015 Dec 17;245:212-221. doi: 10.1016/j.atherosclerosis.2015.11.031.

Mencarelli MA, Heidet L, Storey H, van Geel M, Knebelmann B, Fallerini C, Miglietti N, Antonucci MF, Cetta F, Sayer JA, van den Wijngaard A, Yau S, Mari F, Bruttini M, Ariani F, Dahan K, Smeets B, Antignac C, Flinter F, Renieri A. Evidence of digenic inheritance in Alport syndrome. J Med Genet. 2015 Mar;52(3):163-74.

Mersy E, Faas BH, Spierts S, Houben LM, Macville MV, Frints SG, Paulussen AD, Veltman JA. Cell-Free RNA Is a Reliable Fetoplacental Marker in Noninvasive Fetal Sex Determination. Clin Chem. 2015 Dec;61(12):1515-23.

Mersy E, de Die-Smulders CE, Coumans AB, Smits LJ, de Wert GM, Frints SG, Veltman JA. Advantages and Disadvantages of Different Implementation Strategies of Non-Invasive Prenatal Testing in Down Syndrome Screening Programmes. Public Health Genomics. 2015;18(5):260-71.

Meuwissen ME, Halley DJ, Smit LS, Lequin MH, Cobben JM, de Coo R, van Harssel J, Sallevelt S, Woldringh G, van der Knaap MS, de Vries LS, Mancini GM.  The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature. Genet Med. 2015 Feb 26.

Mukherjee R, Wray E, Hollins S, Curfs L.What does the general public in the UK know about the risk to a developing foetus if exposed to alcohol in pregnancy? Findings from a UK mixed methodology study. Child Care Health Dev. 2015 May;41(3):467-74.

Moog U, Bierhals T, Brand K, Bautsch J, Biskup S, Brune T, Denecke J, de Die-Smulders CE, Evers C, Hempel M, Henneke M, Yntema H, Menten B, Pietz J, Pfundt R, Schmidtke J, Steinemann D, Stumpel CT, Van Maldergem L, Kutsche K.. Phenotypic and molecular insights into CASK-related disorders in males. Orphanet Journal of Rare Diseases 2015, 10:44.

de Munnik SA, Hoefsloot EH, Roukema J, Schoots J, Knoers NV, Brunner HG, Jackson AP, Bongers EM. Meier-Gorlin syndrome. Orphanet J Rare Dis. 2015;10:114.

Nellen RG, Steijlen PM, van Geel M, van Steensel MA. Comment on Zhao et al. "Palmoplantar Keratoderma of the Gamborg-Nielsen Type is Caused by Mutations in the SLURP1 Gene and Represents a Variant of Mal de Meleda". Acta Derm Venereol. 2015 Nov 4;95(8):1034-1035.

Nellen RG, Nagtzaam IF, Hoogeboom AJ, Bladergroen RS, Jonkman MF, Steijlen PM, van Steensel MA, van Geel M. Phenotypic variation in epidermolytic ichthyosis: clinical and functional evaluation of the novel p.(Met339Lys) mutation in the L12 domain of KRT1. Exp Dermatol. 2015 Jun 29.

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. 2015 Aug;29(8):1641-2.

Nguyen M, Boesten I, Hellebrekers DM, Vanoevelen J, Kamps R, de Koning B, de Coo IF, Gerards M, Smeets HJ. Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy. Eur J Hum Genet. 2015 Jul 22.

Niemczyk J, Equit M, Borggrefe-Moussavian S, Curfs L, von Gontard A. Incontinence in persons with Noonan Syndrome. J Pediatr Urol. 2015 Aug;11(4):201.e1-5.

van Nimwegen K, van Soest R, Grutters J, Veltman J, van Der Wilt G. A Next-Generation Framework: Deciding On The Role Of Costs In The Clinical Use Of Targeted Gene Panels, Exome And Genome Sequencing. Value in Health: the journal of the International Society for Pharmacoeconomics and Outcomes Research. 2015:A352. 

van Nimwegen KJ, Schieving JH, Willemsen MA, Veltman JA, van der Burg S, van der Wilt GJ, Grutters JP. The diagnostic pathway in complex paediatric neurology: A cost analysis. Eur J Paediatr Neurol. 2015 Mar;19(2):233-9.

Ockeloen CW, Willemsen MH, de Munnik S, van Bon BW, de Leeuw N, Verrips A, Kant SG, Jones EA, Brunner HG, van Loon RL, Smeets EE, van Haelst MM, van Haaften G, Nordgren A, Malmgren H, Grigelioniene G, Vermeer S, Louro P, Ramos L, Maal TJ, van Heumen CC, Yntema HG, Carels CE, Kleefstra T. Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations. Eur J Hum Genet. 2015 Sep;23(9):1270.

Olthof NC, Huebbers CU, Kolligs J, Henfling M, Ramaekers FC, Cornet I, van Lent-Albrechts JA, Stegmann AP, Silling S, Wieland U, Carey TE, Walline HM, Gollin SM, Hoffmann TK, de Winter J, Kremer B, Klussmann JP, Speel EJ. Viral load, gene expression and mapping of viral integration sites in HPV16-associated  HNSCC cell lines. Int J Cancer. 2015 Mar 1;136(5):E207-18.

van Osch FH, Voets AM, Schouten LJ, Gottschalk RW, Simons CC, van Engeland M, Lentjes MH, van den Brandt PA, Smeets HJ, Weijenberg MP. Mitochondrial DNA copy number in colorectal cancer: between tissue comparisons, clinicopathological characteristics and survival. Carcinogenesis. 2015 Dec;36(12):1502-10.

Otten AB, Smeets HJ. Evolutionary defined role of the mitochondrial DNA in fertility, disease and ageing. Hum Reprod Update, 2015 Sep-Oct;21(5):671-89. 

Peltenburg NC, Bakker JA, Vroemen WH, de Knegt RJ, Leers MP, Bierau J, Verbon A. Inosine triphosphate pyrophosphohydrolase activity: more accurate predictorfor ribavirin-induced anemia in hepatitis C infected patients than ITPA genotype. Clin Chem Lab Med. 2015 Nov 1;53(12):2021-9.

Penders B, Schott N, Gerver WM, Stumpel, CTRM. 2015. Body proportions in children with kabuki syndrome. Am J Med Genet Part A 9999A:1–5.

Peterlongo P, Chang-Claude J, Moysich KB, Rudolph A, Schmutzler RK, Simard J, Soucy P, Eeles RA, Easton DF, Hamann U, Wilkening S, Chen B, Rookus MA, Schmidt MK, van der Baan FH, Spurdle AB, Walker LC, Lose F, Maia AT, Montagna M, Matricardi L, Lubinski J, Jakubowska A, Gomez-Garcia EB, et al. Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. Cancer Epidemiol Biomarkers Prev. 2015;24:308-16.

Philippakis AA, Azzariti DR, Beltran S, Brookes AJ, Brownstein CA, Brudno M, Brunner HG, Buske OJ, Carey K, Doll C, Dumitriu S, Dyke SO, den Dunnen JT, Firth HV, Gibbs RA, Girdea M, Gonzalez M, Haendel MA, Hamosh A, Holm IA, Huang L, Hurles ME, Hutton B, Krier JB, Misyura A, Mungall CJ, Paschall J, Paten B, Robinson PN, Schiettecatte F, Sobreira NL, Swaminathan GJ, Taschner PE, Terry SF, Washington NL, Zuchner S, Boycott KM, Rehm HL. The Matchmaker Exchange: a platform for rare disease gene discovery. Hum Mutat. 2015 Oct;36(10):915-21.

van der Post RS, Vogelaar IP, Manders P, van der Kolk LE, Cats A, van Hest LP, Sijmons R, Aalfs CM, Ausems MG, Gómez García EB, Wagner A, Hes FJ, Arts N, Mensenkamp AR, van Krieken JH, Hoogerbrugge N, Ligtenberg MJ. Accuracy of Hereditary Diffuse Gastric Cancer Testing Criteria and Outcomes in Patients with a Germline Mutation in CDH1. Gastroenterology. 2015 Jun 10.

Pottier C, Bieniek KF, Finch N, van de Vorst M, Baker M, Perkersen R, Brown P, Ravenscroft T, van Blitterswijk M, Nicholson AM, DeTure M, Knopman DS, Josephs KA, Parisi JE, Petersen RC, Boylan KB, Boeve BF, Graff-Radford NR, Veltman JA, Gilissen C, Murray ME, Dickson DW, Rademakers R. Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease. Acta Neuropathol. 2015 Jul;130(1):77-92.

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. 2015 May;174(5):583-7.

Radstaake M, Didden R, von Gontard A, Curfs LM. Uroflowmetric assessment in participants with Angelman syndrome. Dev Neurorehabil. 2015 Dec;18(6):390-4.

Rebbeck TR, ... Gómez Garcia EB, et al.  Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer. JAMA. 2015;313:1347-61.

Riemersma M, Froese DS, van Tol W, Engelke UF, Kopec J, van Scherpenzeel M, Ashikov A, Krojer T, von Delft F, Tessari M, Buczkowska A, Swiezewska E, Jae LT, Brummelkamp TR, Manya H, Endo T, van Bokhoven H, Yue WW, Lefeber DJ. Human ISPD Is a Cytidyltransferase Required for Dystroglycan O-Mannosylation. Chem Biol. 2015 Dec 17;22(12):1643-52.

Riemersma M, Mandel H, van Beusekom E, Gazzoli I, Roscioli T, Eran A, Gershoni-Baruch R, Gershoni M, Pietrokovski S, Vissers LE, Lefeber DJ, Willemsen MA, Wevers RA, van Bokhoven H. Absence of α- and β-dystroglycan is associated with Walker-Warburg syndrome. Neurology. 2015 May 26;84(21):2177-82.

Riemersma M, Sandrock J, Boltje TJ, Büll C, Heise T, Ashikov A, Adema GJ, van Bokhoven H, Lefeber DJ. Disease mutations in CMP-sialic acid transporter SLC35A1 result in abnormal α-dystroglycan O-mannosylation, independent from sialic acid. Hum Mol Genet. 2015 Apr 15;24(8):2241-6.

Roifman M, Marcelis CL, Paton T, Marshall C, Silver R, Lohr JL, Yntema HG, Venselaar H, Kayserili H, van Bon B, Seaward G, Brunner HG, Chitayat D. De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype. Clin Genet. 2015 Jan;87(1):34-41.

Roozen S, Peters GY, Kok G, Townend D, Nijhuis JG, Koek GH & Curfs LMG (2015). Foetaal Alcohol Spectrum Stoornis - een overzicht van de huidige situatie. Tijdschrift voor gezondheidswetenschappen, 93(6), 216-220.

Roumans NJ, Vink RG, Gielen M, Zeegers MP, Holst C, Wang P, Astrup A, SarisWH, Valsesia A, Hager J, van Baak MA, Mariman EC. Variation in extracellularmatrix genes is associated with weight regain after weight loss in a sex-specificmanner. Genes Nutr. 2015 Nov;10(6):56.

Suzanne C.E.H. Sallevelt, Joseph C.F.M. Dreesen, Irenaeus F.M. de Coo, Christine E.M. de Die-Smulders, Hubert J.M. Smeets. Selecting the Right Embryo in Mitochondrial Disorders. © Springer International Publishing Switzerland 2015, E Scott Sills (ed.), Screening the Single Euploid Embryo.

Schaafsma D, Kok G, Stoffelen JM, Curfs LM. Identifying effective methods for teaching sex education to individuals with intellectual disabilities: a systematic review. J Sex Res. 2015;52(4):412-32.

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. Clin Genet. 2015 Apr;87(4):319-26.

Smeets HJ, Sallevelt SC, Dreesen JC, de Die-Smulders CE, de Coo IF. Preventing the transmission of mitochondrial DNA disorders using prenatal or preimplantation genetic diagnosis. Ann N Y Acad Sci. 2015 Sep;1350:29-36.

Snijders Blok L, Madsen E, Juusola J, Gilissen C, Baralle D, Reijnders MR, Venselaar H, Helsmoortel C, Cho MT, Hoischen A, Vissers LE, Koemans TS, Wissink-Lindhout W, Eichler EE, Romano C, Van Esch H, Stumpel C, Vreeburg M, Smeets E, Oberndorff K, van Bon BW, Shaw M, Gecz J, Haan E, Bienek M, Jensen C, Loeys BL, Van Dijck A, Innes AM, Racher H, Vermeer S, Di Donato N, Rump A, Tatton-Brown K, Parker MJ, Henderson A, Lynch SA, Fryer A, Ross A, Vasudevan P, Kini U, Newbury-Ecob R, Chandler K, Male A; DDD Study, Dijkstra S, Schieving J, Giltay J, van Gassen KL, Schuurs-Hoeijmakers J, Tan PL, Pediaditakis I, Haas SA, Retterer K, Reed P, Monaghan KG, Haverfield E, Natowicz M, Myers A, Kruer MC, Stein Q, Strauss KA, Brigatti KW, Keating K, Burton BK, Kim KH, Charrow J, Norman J, Foster-Barber A, Kline AD, Kimball A, Zackai E, Harr M, Fox J, McLaughlin J, Lindstrom K, Haude KM, van Roozendaal K, Brunner H, Chung WK, Kooy RF, Pfundt R, Kalscheuer V, Mehta SG, Katsanis N, Kleefstra T. Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling. Am J Hum Genet. 2015 Aug 6;97(2):343-52.

Spruyt K, Curfs LM. Non-pharmacological management of problematic sleeping in children with developmental disabilities. Dev Med Child Neurol. 2015 Feb; 57(2):120-36.

van Steensel M, Vreeburg M, Urbina MT, López P, Morice-Picard F, van Geel M. Novel KRT83 and KRT86 mutations associated with monilethrix. Exp Dermatol. 2015 Mar;24(3):222-4.

Stevens SJ, Blom EW, Siegelaer IT, Smeets EE. A recurrent deletion syndrome atchromosome bands 2p11.2-2p12 flanked by segmental duplications at the breakpointsand including REEP1. Eur J Hum Genet. 2015 Apr;23(4):543-6.

Suerink M, van der Klift HM, Ten Broeke SW, Dekkers OM, Bernstein I, Capellá Munar G, Gomez Garcia E, Hoogerbrugge N, Letteboer TG, Menko FH, Lindblom A, Mensenkamp A, Moller P, van Os TA, Rahner N, Redeker BJ, Olderode M, Spruijt L, Vos YJ, Wagner A, Morreau H, Hes FJ, Vasen HF, Tops CM, Wijnen JT, Nielsen M. The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers. Genet Med. 2015 Jun 25.

Szklarczyk R, Megchelenbrink W, Cizek P, Ledent M, Velemans G, Szklarczyk D, Huynen MA. WeGET: predicting new genes for molecular systems by weighted co-expression. Nucleic Acids Res. 2015 Nov 17.

Tomas-Roca L, Tsaalbi-Shtylik A, Jansen JG, Singh MK, Epstein JA, Altunoglu U, Verzijl H, Soria L, van Beusekom E, Roscioli T, Iqbal Z, Gilissen C, Hoischen A, de Brouwer AP, Erasmus C, Schubert D, Brunner H, Perez Aytes A, Marin F, Aroca P, Kayserili H, Carta A, de Wind N, Padberg GW, van Bokhoven H. De novo mutations in PLXND1 and REV3L cause Mobius syndrome. Nat Commun. 2015;6:7199.

Tonne E, Holdhus R, Stansberg C, Stray-Pedersen A, Petersen K, Brunner HG, Gilissen C, Hoischen A, Prescott T, Steen VM, Fiskerstrand T. Syndromic X-linked intellectual disability segregating with a missense variant in RLIM. Eur J Hum Genet. 2015 Dec;23(12):1652-6.

Townend GS, Bartl-Pokorny KD, Sigafoos J, Curfs LM, Bölte S, Poustka L, Einspieler C, Marschik PB. Comparing social reciprocity in preserved speech variant and typical Rett syndrome during the early years of life. Res Dev Disabil. 2015 Aug-Sep;43-44:80-6.

Townend GS, van Kranen HJ, van der Stel R, van den Berg M, Smeets E, van Waardenburg D, Curfs LM. Rett Syndrome as a Rare Disease: A European Perspective. Public Health Genomics. 2015;18(4):233-6.

Townend GS, Marschik PB, Smeets EEJ, van de Berg R, van den Berg M, Curfs LMG. Eye gaze technologies as a form of augmentative and alternative communication for individuals with Rett Syndrome: Experiences of families in the Netherlands. Journal of Developmental and Physical Disabilities. 10/2015.

Townend GS, Smeets E, van Waardenburg D, van der Stel R, van den Berg M, van Kranen HJ, Curfs LMG. Rett syndrome and the role of national parent associations within a European context. Rare disease and orphan drugs. 2015; 2(1):17-26.

Gillian S. Townend, Peter B. Marschik, Eric Smeets, Raymond van de Berg, Mariёlle van den Berg, Leopold M.G. Curfs. Eye Gaze Technology as a Form of Augmentative and Alternative Communication for Individuals with Rett Syndrome: Experiences of Families in The Netherlands. Journal of Developmental and Physical Disabilities, October 2015, pp 1-12.

Tylki-Szymanska A, Acuna-Hidalgo R, Krajewska-Walasek M, Lecka-Ambroziak A, Steehouwer M, Gilissen C, Brunner HG, Jurecka A, Rozdzynska-Swiatkowska A, Hoischen A, Chrzanowska KH. Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor alpha gene (THRA). J Med Genet. 2015 May;52(5):312-6.

Umicevic 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. 2015 Dec;74(12):2183-7.

van der Velden JJ, van Geel M, Nellen RG, Jonkman MF, McGrath JA, Nanda A, Sprecher E, van Steensel MA, McLean WH, Cassidy AJ. Novel TGM5 mutations in acral peeling skin syndrome. Exp Dermatol. 2015 Apr;24(4):285-9.

Veltman JA, Lupski JR. From genes to genomes in the clinic. Genome Med. 2015;7(1):78.

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, Lourenco 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, Riviere JB, Dobyns WB, Pilz DT. Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. Eur J Hum Genet. 2015 Mar;23(3):292-301.

Villanueva P, Nudel R, Hoischen A, Fernandez MA, Simpson NH, Gilissen C, Reader RH, Jara L, Echeverry MM, Francks C, Baird G, Conti-Ramsden G, O'Hare A, Bolton PF, Hennessy ER, Palomino H, Carvajal-Carmona L, Veltman JA, Cazier JB, De Barbieri Z, Fisher SE, Newbury DF. Exome Sequencing in an Admixed Isolated Population Indicates NFXL1 Variants Confer a Risk for Specific Language Impairment. PLoS Genet. 2015 Mar;11(3):e1004925.

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. 2015 Mar;23(3):317-24.

Vissers LE, Veltman JA. Standardized phenotyping enhances Mendelian disease gene identification. Nat Genet. 2015 Oct 28;47(11):1222-4.

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. 2015;14:89-94.

Vrijenhoek T, Kraaijeveld K, Elferink M, de Ligt J, Kranendonk E, Santen G, Nijman IJ, Butler D, Claes G, Costessi A, Dorlijn W, van Eyndhoven W, Halley DJ, van den Hout MC, van Hove S, Johansson LF, Jongbloed JD, Kamps R, Kockx CE, de Koning B, Kriek M, Deprez RL, Lunstroo H, Mannens M, Mook OR, Nelen M, Ploem C, Rijnen M, Saris JJ, Sinke R, Sistermans E, van Slegtenhorst M, Sleutels F, van der Stoep N, van Tienhoven M, Vermaat M, Vogel M, Waisfisz Q, Weiss JM, van den Wijngaard A, van Workum W, Ijntema H, van der Zwaag B, van IJcken WF, den Dunnen JT, Veltman JA, Hennekam R, Cuppen E. Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects. Eur J Hum Genet. 2015 Sep;23(9):1270.

Vulto-van Silfhout AT, Nakagawa T, Bahi-Buisson N, Haas SA, Hu H, Bienek M, Vissers LE, Gilissen C, Tzschach A, Busche A, Musebeck 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, Jarvela 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. 2015 Jan;36(1):106-17.

Wagemans MA, van Schrojenstein Lantman-de Valk HMJ,  Proot IM, Metsemakers J, Tuffrey-Wijne I, . End-of-life decision-making for people with intellectual disability from the perspective of nurses. Journal of Policy and Practice in Intellectual Disabilities, 2015; 12(4); 294.302.

Walenbergh SM, Houben T, Hendrikx T, Jeurissen ML, van Gorp PJ, Vreugdenhil AC, Adriaanse MP, Buurman WA, Hofker MH, Mosca A, Lindsey PJ, Alisi A, Liccardo D, Panera N, Koek GH, Nobili V, Shiri-Sverdlov R. Plasma cathepsin D levels: a novel tool to predict pediatric hepatic inflammation. Am J Gastroenterol. 2015 Mar;110(3):462-70. 

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. 2015 Jul;23(7):922-8.

White J, Mazzeu JF, Hoischen A, Jhangiani SN, Gambin T, Alcino MC, Penney S, Saraiva JM, Hove H, Skovby F, Kayserili H, Estrella E, Vulto-van Silfhout AT, Steehouwer M, Muzny DM, Sutton VR, Gibbs RA, Lupski JR, Brunner HG, van Bon BW, Carvalho CM. DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. Am J Hum Genet. 2015 Apr 2;96(4):612-22.

Wijers CH, van Rooij IA, Rassouli R, Wijnen MH, Broens PM, Sloots CE, Brunner HG, de Blaauw I, Roeleveld N. Parental subfertility, fertility treatment, and the risk of congenital anorectal malformations. Epidemiology. 2015 Mar;26(2):169-76.

Wortmann SB, Ziętkiewicz S, Kousi M, Szklarczyk R, Haack TB, Gersting SW, Muntau AC, Rakovic A, Renkema GH, Rodenburg RJ, Strom TM, Meitinger T, Rubio-Gozalbo ME, Chrusciel E, Distelmaier F, Golzio C, Jansen JH, van Karnebeek C, Lillquist Y, Lücke T, Õunap K, Zordania R, Yaplito-Lee J, van Bokhoven H, Spelbrink JN, Vaz FM, Pras-Raves M, Ploski R, Pronicka E, Klein C, Willemsen MA, de Brouwer AP, Prokisch H, Katsanis N, Wevers RA. CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. Am J Hum Genet. 2015 Feb 5;96(2):245-57.

COMPLEX GENETICS

Amin Al Olama A, Benlloch S, Antoniou AC, Giles GG, Severi G, Neal DE, Hamdy FC, Donovan JL, Muir K, Schleutker J, Henderson BE, Haiman CA, Schumacher FR, Pashayan N, Pharoah PD, Ostrander EA, Stanford JL, Batra J, Clements JA, Chambers SK, Weischer M, Nordestgaard BG, Ingles SA, Sorensen KD, Orntoft TF, Park JY, Cybulski C, Maier C, Doerk T, Dickinson JL, Cannon-Albright L, Brenner H, Rebbeck TR, Zeigler-Johnson C, Habuchi T, Thibodeau SN, Cooney KA, Chappuis PO, Hutter P, Kaneva RP, Foulkes WD, Zeegers MP, Lu YJ, Zhang HW, Stephenson R, Cox A, Southey MC, Spurdle AB, FitzGerald L, Leongamornlert D, Saunders E, Tymrakiewicz M, Guy M, Dadaev T, Little SJ, Govindasami K, Sawyer E, Wilkinson R, Herkommer K, Hopper JL, Lophatonanon A, Rinckleb AE, Kote-Jarai Z, Eeles RA, Easton DF; UK Genetic Prostate Cancer Study Collaborators/British Association of Urological Surgeons' Section of Oncology; UK ProtecT Study Collaborators; PRACTICAL Consortium. Risk Analysis of Prostate Cancer in PRACTICAL, a Multinational Consortium, Using 25 Known Prostate Cancer Susceptibility Loci. Cancer Epidemiol Biomarkers Prev. 2015 Jul;24(7):1121-9.

Bijnens E, Zeegers MP, Gielen M, Kicinski M, Hageman GJ, Pachen D, Derom C, Vlietinck R, Nawrot TS.Lower placental telomere length may be attributed to maternal residential traffic exposure; a twin study. Environ Int. 2015 Jun;79:1-7.

Bryan RT, Regan HL, Pirrie SJ, Devall AJ, Cheng KK, Zeegers MP, James ND, Knowles MA, Ward DG. Protein shedding in urothelial bladder cancer: prognostic implications of soluble urinary EGFR and EpCAM. Br J Cancer. 2015 Mar 17;112(6):1052-8.

Christou AI, Endo S, Wallis Y, Bair H, Zeegers MP, McCleery JP. Variation in serotonin transporter linked polymorphic region (5-HTTLPR) short/long genotype modulates resting frontal electroencephalography asymmetries in children. Dev Psychopathol. 2015 May 20:1-12.

Christou AI, Wallis Y, Bair H, Crawford H, Frisson S, Zeegers MP, McCleery JP. BDNF Val(66)Met and 5-HTTLPR Genotype are Each Associated with Visual Scanning Patterns of Faces in Young Children. Front Behav Neurosci. 2015 Jul 13;9:175.

Collins JJ, Anteau SE, Swaen GM, Bodner KM, Bodnar CM.Lymphatic and hematopoietic cancers among benzene-exposed workers. J Occup Environ Med. 2015 Feb;57(2):159-63.

Goossens ME, Zeegers MP, Bazelier MT, De Bruin ML, Buntinx F, de Vries F. Risk of bladder cancer in patients with diabetes: a retrospective cohort study. BMJ Open. 2015 Jun 1;5(6):e007470.

Goossens ME, Brinkman M, Zeegers MP, Buntinx F. Re: "Is the Inverse Association Between Selenium and Bladder Cancer Due to Confounding by Smoking?". Am J Epidemiol. 2015 Nov 15;182(10):894.

Goossens ME, Buntinx F, Zeegers MP, Driessen JH, De Bruin ML, De Vries F. Influence of metformin intake on the risk of bladder cancer in type 2 diabetes patients. Br J Clin Pharmacol. 2015 Aug 10.

van den Heuvel TR, Jonkers DM, Jeuring SF, Romberg-Camps MJ, Oostenbrug LE, Zeegers MP, Masclee AA, Pierik MJ. Cohort Profile: The Inflammatory Bowel Disease South Limburg Cohort (IBDSL). Int J Epidemiol. 2015 Jun 4.

Jeuring SF, Bours PH, Zeegers MP, Ambergen TW, Heuvel TR, Romberg-Camps MJ, van Bodegraven AA, Oostenbrug LE, Breukink SO, Stassen LP, Hameeteman WH, Masclee AA, Jonkers DM, Pierik MJ. Disease outcome of ulcerative colitis in an era of changing treatment strategies - Results from the Dutch population-based IBDSL cohort. J Crohns Colitis. 2015 Oct;9(10):837-45.

Jochems SH, Gielen M, Rump P, Hornstra G, Zeegers MP. Potential programming of selected cardiometabolic risk factors at childhood by maternal polyunsaturated fatty acid availability in the MEFAB cohort. Prostaglandins Leukot Essent Fatty Acids. 2015 Sep;100:21-7. 

Joris PJ, Zeegers MP, Mensink RP. Weight loss improves fasting flow-mediated vasodilation in adults: a meta-analysis of intervention studies. Atherosclerosis. 2015 Mar;239(1):21-30.

Kitchen MO, Bryan RT, Haworth KE, Emes RD, Luscombe C, Gommersall L, Cheng KK, Zeegers MP, James ND, Devall AJ, Fryer AA, Farrell WE. Methylation of HOXA9 and ISL1 Predicts Patient Outcome in High-Grade Non-Invasive Bladder Cancer. PLoS One. 2015 Sep 2;10(9):e0137003.

Lamb JC 4th, Boffetta P, Foster WG, Goodman JE, Hentz KL, Rhomberg LR, Staveley J, Swaen G, Van Der Kraak G, Williams AL. Comments on the opinions published by Bergman et al. (2015) on Critical Comments on the WHO-UNEP State of the Science of Endocrine Disrupting Chemicals (Lamb et al., 2014). Regul Toxicol Pharmacol. 2015 Dec;73(3):754-7.

van Osch FH, Jochems SH, van Schooten FJ, Bryan RT, Zeegers MPSignificant role for lifetime cigarette smoking in worsening bladder cancer and upper tract urothelial carcinoma prognosis: a meta-analysis. J Urol. 2015 Oct 30. pii: S0022-5347(15)05162-9.

Roumans NJ, Vink RG, Gielen M, Zeegers MP, Holst C, Wang P, Astrup A, Saris WH, Valsesia A, Hager J, van Baak MA, Mariman EC. Variation in extracellular matrix genes is associated with weight regain after weight loss in a sex-specific manner. Genes Nutr. 2015 Nov;10(6):56.

Touwslager RN, Houben AJ, Tan FE, Gielen M, Zeegers MP, Stehouwer CD, Gerver WJ, Westerterp KR, Wouters L, Blanco CE, Zimmermann LJ, Mulder AL.Growth and endothelial function in the first 2 years of life. J Pediatr. 2015 Mar;166(3):666-71.

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.

X. Xu, S. Su, F. Treiber, R. Vlietinck, R. Fagard, C. Derom, M. Gielen, R. Loos, H. Snieder, X. Wang. Specific genetic influences on nighttime blood pressure, American Journal of Hypertension 2015; 28 (4) 440-3.

PUBLIC HEALTH GENOMICS

Wang H, Zhou G, Luo L, Crusius JB, Yuan A, Kou J, Yang G, Wang M, Wu J, von Blomberg BM, Morré SA, Peña AS, Xia B. Serological Screening for Celiac Disease in Adult Chinese Patients With Diarrhea Predominant Irritable Bowel Syndrome.Medicine (Baltimore). 2015 Oct;94(42):e1779.

S.P.Verweij, C. Kebbi-Beghdadi, J.A. Land, S. Ouburg, S.A.Morre, G. Greub.Waddlia chondrophila and Chlamydia trachomatis antibodies in screening infertile women for tubal pathology. Microbes and Infection 17 (2015) 745-748.

Chlamydia trachomatis complications. Interview with Servaas A. Morré. International Innovation 2015: issue 192; 46-48.

Daniel Schneider, Giampaolo Bianchini, Denis Horgan, Stefan Michiels, Wim Witjes, Robert Hills, Juliette Plun-Favreau, Angela Brand, Mark Lawleron behalf of EAPM Working Group for Oncology Clinical Research. Establishing the Evidence Bar for  Molecular Diagnostics in Personalised Cancer Care. Public Health Genomics.Published online: November 11, 2015 DOI: 10.1159/000441556

Marleen E. Jansen; Ivan Brankovic; Joke Spaargaren; Sander Ouburg; Servaas A. Morre. Potential protective effect of a G>A SNP in the 3UTR of HLA-A for Chlamydia trachomatis symptomatology and severity of infection. Pathogens and Disease 2015.

De Puysseleyr L, De Puysseleyr K, Braeckman L, Morré SA, Cox E, Vanrompay D. Assessment of Chlamydia suis Infection in Pig Farmers.Transbound Emerg Dis. 2015 Nov 18.

Denis Horgan, Mark Lawler, Angela Brand. Getting Personal: Accelerating Personalised and Precision Medicine Integration into ClinicalCancer Research and Care in Clinical Trials. Public Health Genomics. Published online: November 14, 2015.

Dubbink JH, de Waaij DJ, Bos M, van der Eem L, Bébéar C, Mbambazela N, Ouburg S, Peters RP, Morré SA. MICROBIOLOGICAL CHARACTERISTICS OF CHLAMYDIA TRACHOMATIS AND NEISSERIA GONORRHOEAE INFECTIONS IN SOUTH AFRICAN WOMEN. J Clin Microbiol. 2015 Oct 28.

de Waaij DJ, Dubbink JH, Peters RP, Ouburg S, Morré SA. Comparison of GMT presto assay and Roche cobas® 4800 CT/NG assay for detection of Chlamydia trachomatis and Neisseria gonorrhoeae in dry swabs. J Microbiol Methods. 2015 Aug 29;118:70-74.

Denis Horgan, Angelo Paradiso, Gordon McVie, Ian Banks, Tom Van der Wal, Angela Brand,  Mark Lawler. Is precision medicine the route to a healthy world? Lancet. 2015 Jul 25;386(9991):336-7. doi: 10.1016/S0140-6736(15)61404-0

Martin Singer, Dewi J de Waaij, Servaas A Morré, and Sander Ouburg. CpG DNA analysis of bacterial STDs. Singer et al. BMC Infectious Diseases (2015) 15:273.

Konstantinos Mitropoulos, Hayat Al Jaibeji, Diego A. Forero, Paul Laissue, Ambroise Wonkam, Catalina Lopez-Correa, Zahurin Mohamed, Wasun Chantratita, Ming Ta Michael Lee, Adrian Llerena, Angela Brand, Bassam R. Ali and George P. Patrinos.Success stories in genomic medicine from resource-limited countries. Mitropoulos et al. Human Genomics (2015) 9:11.

Jorien Veldwijk,Mattijs S Lambooij, Frank GJ Kallenberg, Henk J van Kranen, Annelien L Bredenoord,Evelien Dekker, Henriëtte A Smit and G Ardine de Wit, Preferences for genetic testing for colorectal cancer within a population-based screening program: a discrete choice experiment, European Journal of Human Genetics (2015), 1–6.  2015 Jun 3.

Gillian S. Townend, Henk J. van Kranen, Rob van der Stel, Mariёlle van den Berg, Eric Smeets, Dick van Waardenburg, Leopold M.G. Curfs. Rett Syndrome as a Rare Disease: A European Perspective. Public Health Genomics, 2015 Apr 14.

Bart Versteeg, Jan Henk Dubbink, Sylvia M Bruisten, James A McIntyre, Servaas A Morré, Remco PH Peters. High-resolution multilocus sequence typing reveals novel urogenital Chlamydia trachomatis strains in women in Mopani district, South Africa. Sex Transm Infect 2015 Mar 6. pii: sextrans-2014-051998.

Ivan Brankovic, Eleanne F. van Ess, Marlies P. Noz, Wilhelmina (Anke) J. Wiericx, Joke Spaargaren, Servaas A. Morré, and Sander Ouburg. NOD1 in contrast to NOD2 functional polymorphism influence Chlamydia trachomatis infection and the risk of tubal factor infertility. FEMS Pathogens and Disease, 73, 2015, 1–9.

Hay, Bastien PharmD; Dubbink, Jan Henk Bsc; Ouburg, Sander PhD; Le Roy, Chloé PhD; Pereyre, Sabine PharmD; van der Eem, Lisette Bsc; Morré, Servaas A. PhD; Bébéar, Cécile MD, PhD; Peters, Remco P.H. PhD. Prevalence and Macrolide Resistance of Mycoplasma genitalium in South African Women. Sexually Transmitted Diseases, Issue: Volume 42(3), March 2015, p 140–142.

Rayzel C. Fernandes, Marriyah Hasan, Himanshu Gupta, K. Geetha, Padmalatha S. Rai, Manjunath H. Hande, Sydney C. D’Souza, Prabha Adhikari, Angela Brand, Kapaettu Satyamoorthy. Host genetic variations in glutathione‑S‑transferases, superoxide dismutases and catalase genes influence susceptibility to malaria infection in an Indian population. Mol Genet Genomics.

van Rooijen MS, Schim van der Loeff MF, Morré SA, van Dam AP, Speksnijder AG, de Vries HJ. Spontaneous pharyngeal Chlamydia trachomatis RNA clearance. A cross-sectional study followed by a cohort study of untreated STI clinic patients in Amsterdam, The Netherlands. Sex Transm Infect. 2015 May;91(3):157-64.