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Publicaties 2014

International scientific publications

Aalbers AM, van den Heuvel-Eibrink MM, Baumann I, Beverloo HB, Driessen GJ, Dworzak M, Fischer A, Gohring G, Hasle H, Locatelli F, De Moerloose B, Noellke P, Schmugge M, Stary J, Yoshimi A, Zecca M, Zwaan CM, van Dongen JJ, Pieters R, Niemeyer CM, van der Velden VH, Langerak AW. T-Cell Receptor Vbeta Skewing Frequently Occurs in Refractory Cytopenia of Childhood and Is Associated with an Expansion of Effector Cytotoxic T Cells: A Prospective Study by Ewog-Mds. Blood Cancer J. 2014;4:e209.

 

Aalbers AM, van der Velden VH, Yoshimi A, Fischer A, Noellke P, Zwaan CM, Baumann I, Beverloo HB, Dworzak M, Hasle H, Locatelli F, De Moerloose B, Gohring G, Schmugge M, Stary J, Zecca M, Langerak AW, van Dongen JJ, Pieters R, Niemeyer CM, van den Heuvel-Eibrink MM. The Clinical Relevance of Minor Paroxysmal Nocturnal Hemoglobinuria Clones in Refractory Cytopenia of Childhood: A Prospective Study by Ewog-Mds. Leukemia. 2014;28(1):189-92.

 

Aalberts JJ, van Tintelen JP, Meijboom LJ, Polko A, Jongbloed JD, van der Wal H, Pals G, Osinga J, Timmermans J, de Backer J, Bakker MK, van Veldhuisen DJ, Hofstra RM, Mulder BJ, van den Berg MP. Relation between Genotype and Left-Ventricular Dilatation in Patients with Marfan Syndrome. Gene. 2014;534(1):40-3.

 

Aalberts JJ, van Tintelen JP, Oomen T, Bergman JE, Halley DJ, Jongbloed JD, Suurmeijer AJ, van den Berg MP. Screening of Tgfbr1, Tgfbr2, and Flna in Familial Mitral Valve Prolapse. American journal of medical genetics Part A. 2014;164a(1):113-9.

 

Abbas S, Sanders MA, Zeilemaker A, Geertsma-Kleinekoort WM, Koenders JE, Kavelaars FG, Abbas ZG, Mahamoud S, Chu IW, Hoogenboezem R, Peeters JK, van Drunen E, van Galen J, Beverloo HB, Lowenberg B, Valk PJ. Integrated Genome-Wide Genotyping and Gene Expression Profiling Reveals Bcl11b as a Putative Oncogene in Acute Myeloid Leukemia with 14q32 Aberrations. Haematologica. 2014;99(5):848-57.

 

Abuli A, Bujanda L, Munoz J, Buch S, Schafmayer C, Valeria Maiorana M, Veneroni S, van Wezel T, Liu T, Westers H, Esteban-Jurado C, Ocana T, Pique JM, Andreu M, Jover R, Carracedo A, Xicola RM, Llor X, Castells A, Dunlop M, Hofstra R, Lindblom A, Wijnen J, Peterlongo P, Hampe J, Ruiz-Ponte C, Castellvi-Bel S. The Mlh1 C.1852_1853delinsgc (P.K618a) Variant in Colorectal Cancer: Genetic Association Study in 18,723 Individuals. PLoS One. 2014;9(4):e95022.

 

Adriaanse MP, Vreugdenhil AC, Groeneweg M, Bruggenwirth HT, Castelijns SJ, van der Ent CK, Voorter CE, Tilanus MG. Hla Frequencies and Associations in Cystic Fibrosis. Tissue Antigens. 2014;83(1):27-31.

 

Agarwal D, Pineda S, Michailidou K, Herranz J, Pita G, Moreno LT, Alonso MR, Dennis J, Wang Q, Bolla MK, Meyer KB, Menéndez-Rodríguez P, Hardisson D, Mendiola M, González-Neira A, Lindblom A, Margolin S, Swerdlow A, Ashworth A, Orr N, Jones M, Matsuo K, Ito H, Iwata H, Kondo N, Hartman M, Hui M, Lim WY, Iau PTC, Sawyer E, Tomlinson I, Kerin M, Miller N, Kang D, Choi JY, Park S, Noh DY, Hopper JL, Schmidt DF, Makalic E, Southey MC, Teo SH, Yip CH, Sivanandan K, Tay WT, Brauch H, Brüning T, Hamann U, Dunning AM, Shah M, Andrulis IL, Knight JA, Glendon G, Tchatchou S, Schmidt MK, Broeks A, Rosenberg EH, van't Veer LJ, Fasching PA, Renner SP, Ekici AB, Beckmann MW, Shen CY, Hsiung CN, Yu JC, Hou MF, Blot W, Cai Q, Wu AH, Tseng CC, Van Den Berg D, Stram DO, Cox A, Brock IW, Reed MWR, Muir K, Lophatananon A, Stewart-Brown S, Siriwanarangsan P, Zheng W, Deming-Halverson S, Shrubsole MJ, Long J, Shu XO, Lu W, Gao YT, Zhang B, Radice P, Peterlongo P, Manoukian S, Mariette F, Sangrajrang S, McKay J, Couch FJ, Toland AE, Yannoukakos D, Fletcher O, Johnson N, Dos Santos Silva I, Peto J, Marme F, Burwinkel B, Guénel P, Truong T, Sanchez M, Mulot C, Bojesen SE, Nordestgaard BG, Flyer H, Brenner H, Dieffenbach AK, Arndt V, Stegmaier C, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Lambrechts D, Yesilyurt BT, Floris G, Leunen K, Chang-Claude J, Rudolph A, Seibold P, Flesch-Janys D, Wang X, Olson JE, Vachon C, Purrington K, Giles GG, Severi G, Baglietto L, Haiman CA, Henderson BE, Schumacher F, Le Marchand L, Simard J, Dumont M, Goldberg MS, Labrèche F, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Grip M, Devilee P, E M Tollenaar RA, Seynaeve C, García-Closas M, Chanock SJ, Lissowska J, Figueroa JD, Czene K, Eriksson M, Humphreys K, Darabi H, Hooning MJ, Kriege M, Collée JM, Tilanus-Linthorst M, Li J, Jakubowska A, Lubinski J, Jaworska-Bieniek K, Durda K, Nevanlinna H, Muranen TA, Aittomäki K, Blomqvist C, Bogdanova N, Dörk T, Hall P, Chenevix-Trench G, Easton DF, P Pharoah PD, Arias-Perez JI, Zamora P, Benítez J, Milne RL. Fgf Receptor Genes and Breast Cancer Susceptibility: Results from the Breast Cancer Association Consortium. British journal of cancer. 2014;110(4):1088-100.

 

Albrecht E, Sillanpaa E, Karrasch S, Alves AC, Codd V, Hovatta I, Buxton JL, Nelson CP, Broer L, Hagg S, Mangino M, Willemsen G, Surakka I, Ferreira MA, Amin N, Oostra BA, Backmand HM, Peltonen M, Sarna S, Rantanen T, Sipila S, Korhonen T, Madden PA, Gieger C, Jorres RA, Heinrich J, Behr J, Huber RM, Peters A, Strauch K, Wichmann HE, Waldenberger M, Blakemore AI, de Geus EJ, Nyholt DR, Henders AK, Piirila PL, Rissanen A, Magnusson PK, Vinuela A, Pietilainen KH, Martin NG, Pedersen NL, Boomsma DI, Spector TD, van Duijn CM, Kaprio J, Samani NJ, Jarvelin MR, Schulz H. Telomere Length in Circulating Leukocytes Is Associated with Lung Function and Disease. The European respiratory journal. 2014;43(4):983-92.

 

Arking DE, Pulit SL, Crotti L, van der Harst P, Munroe PB, Koopmann TT, Sotoodehnia N, Rossin EJ, Morley M, Wang XJ, A. D., Lundby A, Gudbjartsson DF, Noseworthy PA, Eijgelsheim M, Bradford Y, Tarasov KV, Dorr M, Muller-Nurasyid M, Lahtinen AM, Nolte IM, Smith AV, Bis JC, Isaacs A, Newhouse SJ, Evans DS, Post WS, Waggott D, Lyytikainen LP, Hicks AA, Eisele L, Ellinghaus D, Hayward C, Navarro P, Ulivi ST, T., Tester DJ, Chatel S, Gustafsson S, Kumari M, Morris RW, Naluai AT, Padmanabhan S, Kluttig A, Strohmer B, Panayiotou AG, Torres M, Knoflach M, Hubacek JA, Slowikowski K, Raychaudhuri S, Kumar RD, Harris TB, Launer LJ, Shuldiner AR, Alonso A, Bader JS, Ehret G, Huang H, Kao WH, Strait JB, Macfarlane PW, Brown M, Caulfield MJ, Samani NJ, Kronenberg F, Willeit J, Smith JG, Greiser KH, Meyer Zu Schwabedissen H, Werdan K, Carella M, Zelante L, Heckbert SR, Psaty BM, Rotter JI, Kolcic I, Polasek O, Wright AF, Griffin M, Daly MJ, Arnar DO, Holm H, Thorsteinsdottir U, Denny JC, Roden DM, Zuvich RL, Emilsson V, Plump AS, Larson MG, O'Donnell CJ, Yin X, Bobbo M, D'Adamo AP, Iorio A, Sinagra G, Carracedo A, Cummings SR, Nalls MA, Jula A, Kontula KK, Marjamaa A, Oikarinen L, Perola M, Porthan K, Erbel R, Hoffmann P, Jockel KH, Kalsch H, Nothen MM, den Hoed M, Loos RJ, Thelle DS, Gieger C, Meitinger T, Perz S, Peters A, Prucha H, Sinner MF, Waldenberger M, de Boer RA, Franke L, van der Vleuten PA, Beckmann BM, Martens E, Bardai A, Hofman N, Wilde AA, Behr ER, Dalageorgou C, Giudicessi JR, Medeiros-Domingo A, Barc J, Kyndt F, Probst V, Ghidoni A, Insolia R, Hamilton RM, Scherer SW, Brandimarto J, Margulies K, Moravec CE, Greco MF, Fuchsberger C, O'Connell JR, Lee WK, Watt GC, Campbell H, Wild SH, El Mokhtari NE, Frey N, Asselbergs FW, Mateo Leach I, Navis G, van den Berg MP, van Veldhuisen DJ, Kellis M, Krijthe BP, Franco OH, Hofman A, Kors JA, Uitterlinden AG, Witteman JC, Kedenko L, Lamina C, Oostra BA, Abecasis GR, Lakatta EG, Mulas A, Orru M, Schlessinger D, Uda M, Markus MR, Volker U, Snieder H, Spector TD, Arnlov J, Lind L, Sundstrom J, Syvanen AC, Kivimaki M, Kahonen M, Mononen N, Raitakari OT, Viikari JS, Adamkova V, Kiechl S, Brion M, Nicolaides AN, Paulweber B, Haerting J, Dominiczak AF, Nyberg F, Whincup PH, Hingorani AD, Schott JJ, Bezzina CR, Ingelsson E, Ferrucci L, Gasparini P, Wilson JF, Rudan I, Franke A, Muhleisen TW, Pramstaller PP, Lehtimaki TJ, Paterson AD, Parsa A, Liu Y, van Duijn CM, Siscovick DS, Gudnason V, Jamshidi Y, Salomaa V, Felix SB, Sanna S, Ritchie MD. Genetic Association Study of Qt Interval Highlights Role for Calcium Signaling Pathways in Myocardial Repolarization. 2014;46(8):826-36.

 

Arranz AM, Delbroek L, Van Kolen K, Guimaraes MR, Mandemakers W, Daneels G, Matta S, Calafate S, Shaban H, Baatsen P, De Bock PJ, Gevaert K, Vanden Berghe P, Verstreken P, De Strooper B, Moechars D. Lrrk2 Functions in Synaptic Vesicle Endocytosis through a Kinase-Dependent Mechanism. Journal of cell science. 2014.

 

Avery CL, Sitlani CM, Arking DE, Arnett DK, Bis JC, Boerwinkle E, Buckley BM, Ida Chen YD, de Craen AJ, Eijgelsheim M, Enquobahrie D, Evans DS, Ford I, Garcia ME, Gudnason V, Harris TB, Heckbert SR, Hochner H, Hofman A, Hsueh WC, Isaacs A, Jukema JW, Knekt P, Kors JA, Krijthe BP, Kristiansson K, Laaksonen M, Liu Y, Li X, Macfarlane PW, Newton-Cheh C, Nieminen MS, Oostra BA, Peloso GM, Porthan K, Rice K, Rivadeneira FF, Rotter JI, Salomaa V, Sattar N, Siscovick DS, Slagboom PE, Smith AV, Sotoodehnia N, Stott DJ, Stricker BH, Sturmer T, Trompet S, Uitterlinden AG, van Duijn C, Westendorp RG, Witteman JC, Whitsel EA, Psaty BM. Drug-Gene Interactions and the Search for Missing Heritability: A Cross-Sectional Pharmacogenomics Study of the Qt Interval. The pharmacogenomics journal. 2014;14(1):6-13.

 

Baken L, Groenenberg IA, Hoogeboom AJ, Koning AH, Exalto N. First-Trimester Diagnosis of Thrombocytopenia-Absent Radius Syndrome Using Virtual Reality. Clin Dysmorphol. 2014;23(2):71-3.

 

Bancroft EK, Page EC, Castro E, Lilja H, Vickers A, Sjoberg D, Assel M, Foster CS, Mitchell G, Drew K, Maehle 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, Ramon 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, Moss S, Eeles RA.

Targeted Prostate Cancer Screening in Brca1 and Brca2 Mutation Carriers: Results from the Initial Screening Round of the Impact Study. European urology. 2014;66(3):489-99.

 

Banka S, Lederer D, Benoit V, Jenkins E, Howard E, Bunstone S, Kerr B, McKee S, Lloyd IC, Shears D, Stewart H, White SM, Savarirayan R, Mancini GM, Beysen D, Cohn RD, Grisart B, Maystadt I, Donnai D. Novel Kdm6a (Utx) Mutations and a Clinical and Molecular Review of the X-Linked Kabuki Syndrome (Ks2). Clin Genet. 2014.

 

Bayley JP, Oldenburg RA, Nuk J, Hoekstra AS, van der Meer CA, Korpershoek E, McGillivray B, Corssmit EPM, Dinjens WNM, de Krijger RR, Devilee P, Jansen JC, Hes FJ. Paraganglioma and Pheochromocytoma Upon Maternal Transmission of Sdhd Mutations. BMC Medical Genetics. 2014;15(1).

 

van Beek JG, Koopmans AE, Vaarwater J, de Rooi JJ, Paridaens D, Naus NC, de Klein A, Verdijk RM, Kilic E. The Prognostic Value of Extraocular Extension in Relation to Monosomy 3 and Gain of Chromosome 8q in Uveal Melanoma. Investigative ophthalmology & visual science. 2014;55(3):1284-91.

 

van Beelen NW, Mous DS, Brosens E, de Klein A, van de Ven CP, Vlot J, Ijsselstijn H, Wijnen R. Increased Incidence of Hypertrophic Pyloric Stenosis in Esophageal Atresia Patients. European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery  [et al] = Zeitschrift fur Kinderchirurgie. 2014;24(1):20-4.

 

Berman RF, Buijsen RA, Usdin K, Pintado E, Kooy F, Pretto D, Pessah IN, Nelson DL, Zalewski Z, Charlet-Bergeurand N, Willemsen R, Hukema RK. Mouse Models of the Fragile X Premutation and Fragile X-Associated Tremor/Ataxia Syndrome. Journal of neurodevelopmental disorders. 2014;6(1):25.

 

van Binsbergen E, Ellis RJ, Abdelmalik N, Jarvis J, Randhawa K, Wyatt-Ashmead J, Canham N, Thorpe-Beeston JG, Mancini GM, Van Haelst MM. A Fetus with De Novo 2q33.2q35 Deletion Including Map2 with Brain Anomalies, Esophageal Atresia, and Laryngeal Stenosis. American journal of medical genetics Part A. 2014;164a(1):194-8.

 

Bol KF, Mensink HW, Aarntzen EH, Schreibelt G, Keunen JE, Coulie PG, de Klein A, Punt CJ, Paridaens D, Figdor CG, de Vries IJ. Long Overall Survival after Dendritic Cell Vaccination in Metastatic Uveal Melanoma Patients. American journal of ophthalmology. 2014;158(5):939-47.e5.

 

Bonifati V. Genetics of Parkinson's Disease--State of the Art, 2013. Parkinsonism & related disorders. 2014;20 Suppl 1:S23-8.

 

Boomsma DI, Wijmenga C, Slagboom EP, Swertz MA, Karssen LC, Abdellaoui A, Ye K, Guryev V, Vermaat M, van Dijk F, Francioli LC, Hottenga JJ, Laros JF, Li Q, Li Y, Cao H, Chen R, Du Y, Li N, Cao S, van Setten J, Menelaou A, Pulit SL, Hehir-Kwa JY, Beekman M, Elbers CC, Byelas H, de Craen AJ, Deelen P, Dijkstra M, den Dunnen JT, de Knijff P, Houwing-Duistermaat J, Koval V, Estrada K, Hofman A, Kanterakis A, Enckevort D, Mai H, Kattenberg M, van Leeuwen EM, Neerincx PB, Oostra B, Rivadeneira F, Suchiman EH, Uitterlinden AG, Willemsen G, Wolffenbuttel BH, Wang J, de Bakker PI, van Ommen GJ, van Duijn CM. The Genome of the Netherlands: Design, and Project Goals. European journal of human genetics : EJHG. 2014;22(2):221-7.

 

Broer L, Raschenberger J, Deelen J, Mangino M, Codd V, Pietilainen KH, Albrecht E, Amin N, Beekman M, de Craen AJ, Gieger C, Haun M, Henneman P, Herder C, Hovatta I, Laser A, Kedenko L, Koenig W, Kollerits B, Moilanen E, Oostra BA, Paulweber B, Quaye L, Rissanen A, Roden M, Surakka I, Valdes AM, Vuolteenaho K, Thorand B, van Dijk KW, Kaprio J, Spector TD, Slagboom PE, Samani NJ, Kronenberg F, van Duijn CM, Ladwig KH. Association of Adiponectin and Leptin with Relative Telomere Length in Seven Independent Cohorts Including 11,448 Participants. Eur J Epidemiol. 2014.

 

Brohet RM, Velthuizen ME, Hogervorst FB, Meijers-Heijboer HE, Seynaeve C, Collee MJ, Verhoef S, Ausems MG, Hoogerbrugge N, van Asperen CJ, Gomez Garcia E, Menko F, Oosterwijk JC, Devilee P, van't Veer LJ, van Leeuwen FE, Easton DF, Rookus MA, Antoniou AC. 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;51(2):98-107.

 

Brosens E, de Jong EM, Barakat TS, Eussen BH, D'Haene B, De Baere E, Verdin H, Poddighe PJ, Galjaard RJ, Gribnau J, Brooks AS, Tibboel D, de Klein A. Structural and Numerical Changes of Chromosome X in Patients with Esophageal Atresia. European journal of human genetics : EJHG. 2014;22(9):1077-84.

 

Brosens E, Ploeg M, van Bever Y, Koopmans AE, H IJ, Rottier RJ, Wijnen R, Tibboel D, de Klein A. Clinical and Etiological Heterogeneity in Patients with Tracheo-Esophageal Malformations and Associated Anomalies. European journal of medical genetics. 2014;57(8):440-52.

 

Buijsen RA, Sellier C, Severijnen LA, Oulad-Abdelghani M, Verhagen RF, Berman RF, Charlet-Berguerand N, Willemsen R, Hukema RK. Fmrpolyg-Positive Inclusions in Cns and Non-Cns Organs of a Fragile X Premutation Carrier with Fragile X-Associated Tremor/Ataxia Syndrome. Acta neuropathologica communications. 2014;2(1):162.

 

Campos-Obando N, Oei L, Hoefsloot LH, Kiewiet RM, Klaver CC, Simon ME, Zillikens MC. Osteoporotic Vertebral Fractures During Pregnancy: Be Aware of a Potential Underlying Genetic Cause. The Journal of clinical endocrinology and metabolism. 2014;99(4):1107-11.

 

Chen HH, Welling M, Bloch DB, Munoz J, Mientjes E, Chen X, Tramp C, Wu J, Yabuuchi A, Chou YF, Buecker C, Krainer A, Willemsen R, Heck AJ, Geijsen N. Dazl Limits Pluripotency, Differentiation, and Apoptosis in Developing Primordial Germ Cells. Stem Cell Reports. 2014;3(5):892-904.

 

Derks-Smeets IA, Gietel-Habets JJ, Tibben A, Tjan-Heijnen VC, Meijer-Hoogeveen M, Geraedts JP, van Golde R, Gomez-Garcia E, van den Bogaart E, van Hooijdonk M, de Die-Smulders CE, van Osch LA. Decision-Making on Preimplantation Genetic Diagnosis and Prenatal Diagnosis: A Challenge for Couples with Hereditary Breast and Ovarian Cancer. Human reproduction (Oxford, England). 2014;29(5):1103-12.

 

van Dijk SJ, Boontje NM, Heymans MW, Ten Cate FJ, Michels M, Dos Remedios C, Dooijes D, van Slegtenhorst MA, van der Velden J, Stienen GJ. Preserved Cross-Bridge Kinetics in Human Hypertrophic Cardiomyopathy Patients with Mybpc3 Mutations. Pflugers Archiv : European journal of physiology.  2014;466(8):1619-33.

 

van den Elzen ME, Twigg SR, Goos JA, Hoogeboom AJ, van den Ouweland AM, Wilkie AO, Mathijssen IM. Phenotypes of Craniofrontonasal Syndrome in Patients with a Pathogenic Mutation in Efnb1. European journal of human genetics : EJHG. 2014;22(8):995-1001.

 

de Esch CE, Ghazvini M, Loos F, Schelling-Kazaryan N, Widagdo W, Munshi ST, van der Wal E, Douben H, Gunhanlar N, Kushner SA, Pijnappel WW, de Vrij FM, Geijsen N, Gribnau J, Willemsen R. Epigenetic Characterization of the Fmr1 Promoter in Induced Pluripotent Stem Cells from Human Fibroblasts Carrying an Unmethylated Full Mutation. Stem Cell Reports. 2014;3(4):548-55.

 

de Esch CE, Zeidler S, Willemsen R. Translational Endpoints in Fragile X Syndrome. Neurosci Biobehav Rev. 2014;46p2:256-69.

 

van Essen TH, van Pelt SI, Versluis M, Bronkhorst IH, van Duinen SG, Marinkovic M, Kroes WG, Ruivenkamp CA, Shukla S, de Klein A, Kilic E, Harbour JW, Luyten GP, van der Velden PA, Verdijk RM, Jager MJ. Prognostic Parameters in Uveal Melanoma and Their Association with Bap1 Expression. The British journal of ophthalmology.  2014;98(12):1738-43.

 

Favejee MM, van den Berg LE, Kruijshaar ME, Wens SC, Praet SF, Pijnappel WW, van Doorn PA, Bussmann JB, van der Ploeg AT. Exercise Training in Adults with Pompe Disease: The Effects on Pain, Fatigue, and Functioning. Archives of physical medicine and rehabilitation.  2014.

 

Fenwick AL, Goos JAC, Rankin J, Lord H, Lester T, Hoogeboom AJM, van den Ouweland AMW, Wall SA, Mathijssen IMJ, Wilkie AOM. Apparently Synonymous Substitutions in Fgfr2 Affect Splicing and Result in Mild Crouzon Syndrome. BMC Medical Genetics. 2014;15(1).

 

Fernandez RM, Bleda M, Luzon-Toro B, Garcia-Alonso L, Arnold S, Sribudiani Y, Besmond C, Lantieri F, Doan B, Ceccherini I, Lyonnet S, Hofstra RM, Chakravarti A, Antinolo G, Dopazo J, Borrego S. Pathways Systematically Associated to Hirschsprung's Disease. Orphanet J Rare Dis. 2013;8:187.

 

Ferreira AM, Tuominen I, van Dijk-Bos K, Sanjabi B, van der Sluis T, van der Zee AG, Hollema H, Zazula M, Sijmons RH, Aaltonen LA, Westers H, Hofstra RM. High Frequency of Rpl22 Mutations in Microsatellite-Unstable Colorectal and Endometrial Tumors. Hum Mutat. 2014;35(12):1442-5.

 

Ferreira AM, Tuominen I, Sousa S, Gerbens F, van Dijk-Bos K, Osinga J, Kooi KA, Sanjabi B, Esendam C, Oliveira C, Terpstra P, Hardonk M, van der Sluis T, Zazula M, Stachura J, van der Zee AG, Hollema H, Sijmons RH, Aaltonen LA, Seruca R, Hofstra RM, Westers H. New Target Genes in Endometrial Tumors Show a Role for the Estrogen-Receptor Pathway in Microsatellite-Unstable Cancers. Hum Mutat. 2014;35(12):1514-23.

 

Ferrer I, Mohan P, Chen H, Castellsague J, Gomez-Baldo L, Carmona M, Garcia N, Aguilar H, Jiang J, Skowron M, Nellist M, Ampuero I, Russi A, Lazaro C, Maxwell CA, Pujana MA. Tubers from Patients with Tuberous Sclerosis Complex Are Characterized by Changes in Microtubule Biology through Rock2 Signalling. The Journal of pathology. 2014;233(3):247-57.

 

Ferretta A, Gaballo A, Tanzarella P, Piccoli C, Capitanio N, Nico B, Annese T, Di Paola M, Dell'aquila C, De Mari M, Ferranini E, Bonifati V, Pacelli C, Cocco T. Effect of Resveratrol on Mitochondrial Function: Implications in Parkin-Associated Familiar Parkinson's Disease. Biochimica et biophysica acta. 2014;1842(7):902-15.

 

Di Filippo M, Moulin P, Roy P, Samson-Bouma ME, Collardeau-Frachon S, Chebel-Dumont S, Peretti N, Dumortier J, Zoulim F, Fontanges T, Parini R, Rigoldi M, Furlan F, Mancini G, Bonnefont-Rousselot D, Bruckert E, Schmitz J, Scoazec JY, Charrière S, Villar-Fimbel S, Gottrand F, Dubern B, Doummar D, Joly F, Liard-Meillon ME, Lachaux A, Sassolas A. Homozygous Mttp and Apob Mutations May Lead to Hepatic Steatosis and Fibrosis Despite Metabolic Differences in Congenital Hypocholesterolemia. Journal of Hepatology. 2014.

 

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Santiago Lima AJ, Hoogeveen-Westerveld M, Nakashima A, Maat-Kievit A, van den Ouweland A, Halley D, Kikkawa U, Nellist M. Identification of Regions Critical for the Integrity of the Tsc1-Tsc2-Tbc1d7 Complex. PLoS One. 2014;9(4):e93940.

 

Sawyer E, Roylance R, Petridis C, Brook MN, Nowinski S, Papouli E, Fletcher O, Pinder S, Hanby A, Kohut K, Gorman P, Caneppele M, Peto J, Dos Santos Silva I, Johnson N, Swann R, Dwek M, Perkins KA, Gillett C, Houlston R, Ross G, De Ieso P, Southey MC, Hopper JL, Provenzano E, Apicella C, Wesseling J, Cornelissen S, Keeman R, Fasching PA, Jud SM, Ekici AB, Beckmann MW, Kerin MJ, Marme F, Schneeweiss A, Sohn C, Burwinkel B, Guenel P, Truong T, Laurent-Puig P, Kerbrat P, Bojesen SE, Nordestgaard BG, Nielsen SF, Flyger H, Milne RL, Perez JI, Menendez P, Benitez J, Brenner H, Dieffenbach AK, Arndt V, Stegmaier C, Meindl A, Lichtner P, Schmutzler RK, Lochmann M, Brauch H, Fischer HP, Ko YD, Nevanlinna H, Muranen TA, Aittomaki K, Blomqvist C, Bogdanova NV, Dork T, Lindblom A, Margolin S, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Chenevix-Trench G, Investigators K, Lambrechts D, Weltens C, Van Limbergen E, Hatse S, Chang-Claude J, Rudolph A, Seibold P, Flesch-Janys D, Radice P, Peterlongo P, Bonanni B, Volorio S, Giles GG, Severi G, Baglietto L, McLean CA, Haiman CA, Henderson BE, Schumacher F, Le Marchand L, Simard J, Goldberg MS, Labreche F, Dumont M, Kristensen V, Winqvist R, Pylkas K, Jukkola-Vuorinen A, Kauppila S, Andrulis IL, Knight JA, Glendon G, Mulligan AM, Devillee P, Tollenaar RA, Seynaeve CM, Kriege M, Figueroa J, Chanock SJ, Sherman ME, Hooning MJ, Hollestelle A, van den Ouweland AM, van Deurzen CH, Li J, Czene K, Humphreys K, Cox A, Cross SS, Reed MW, Shah M, Jakubowska A, Lubinski J, Jaworska-Bieniek K, Durda K, Swerdlow A, Ashworth A, Orr N, Schoemaker M, Couch FJ, Hallberg E, Gonzalez-Neira A, Pita G, Alonso MR, Tessier DC, Vincent D, Bacot F, Bolla MK, Wang Q, Dennis J, Michailidou K, Dunning AM, Hall P, Easton D, Pharoah P, Schmidt MK, Tomlinson I, Garcia-Closas M. Genetic Predisposition to in Situ and Invasive Lobular Carcinoma of the Breast. PLoS Genet. 2014;10(4):e1004285.

 

Schepers D, Doyle AJ, Oswald G, Sparks E, Myers L, Willems PJ, Mansour S, Simpson MA, Frysira H, Maat-Kievit A, Van Minkelen R, Hoogeboom JM, Mortier GR, Titheradge H, Brueton L, Starr L, Stark Z, Ockeloen C, Lourenco CM, Blair E, Hobson E, Hurst J, Maystadt I, Destree A, Girisha KM, Miller M, Dietz HC, Loeys B, Van Laer L. The Smad-Binding Domain of Ski: A Hotspot for De Novo Mutations Causing Shprintzen-Goldberg Syndrome. European journal of human genetics : EJHG. 2014.

 

Van Scherpenzeel M, Timal S, Rymen D, Hoischen A, Wuhrer M, Hipgrave-Ederveen A, Grunewald S, Peanne R, Saada A, Edvardson S, Gronborg 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(Pt 4):1030-8.

 

Sherman SL, Curnow EC, Easley CA, Jin P, Hukema RK, Tejada MI, Willemsen R, Usdin K. Use of Model Systems to Understand the Etiology of Fragile X-Associated Primary Ovarian Insufficiency (Fxpoi). Journal of neurodevelopmental disorders. 2014;6(1):26.

 

Sijmons RH, te Meerman GJ, Hofstra RM. Charles Buys (1942-2014). European journal of human genetics : EJHG. 2014;22(12):1343-4.

 

Srebniak MI, Bos MJ, de Vries FA, Heydanus R, Wessels MW, Van Opstal D. Snp Array Detects Chromosome Aberrations That We Thought Do Not Exist: The First Case of an Isochromosome Xp (I(X)(P10)). Prenatal diagnosis. 2014;34(8):806-8.

 

Srebniak MI, Diderich KE, Govaerts LC, Joosten M, Riedijk S, Galjaard RJ, Van Opstal D. Types of Array Findings Detectable in Cytogenetic Diagnosis: A Proposal for a Generic Classification. European journal of human genetics : EJHG. 2014;22(7):856-8.

 

Srebniak MI, Diderich KE, Noomen P, Dijkman A, de Vries FA, van Opstal D. Abnormal Non-Invasive Prenatal Test Results Concordant with Karyotype of Cytotrophoblast but Not Reflecting Abnormal Fetal Karyotype. U ltrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.  2014;44(1):109-11.

 

van der Steen SL, Diderich KE, Riedijk SR, Verhagen-Visser J, Govaerts LC, Joosten M, Knapen MF, Van Opstal D, Srebniak MI, Tibben A, Galjaard RJ. Pregnant Couples at Increased Risk for Common Aneuploidies Choose Maximal Information from Invasive Genetic Testing. Clin Genet. 2014.

 

Taglia I, Mignarri A, Olgiati S, Menci E, Petrocelli PL, Breedveld GJ, Scaglione C, Martinelli P, Federico A, Bonifati V, Dotti MT. Primary Familial Brain Calcification: Genetic Analysis and Clinical Spectrum.

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Teles Alves I, Hartjes T, McClellan E, Hiltemann S, Bottcher R, Dits N, Temanni MR, Janssen B, van Workum W, van der Spek P, Stubbs A, de Klein A, Eussen B, Trapman J, Jenster G. Next-Generation Sequencing Reveals Novel Rare Fusion Events with Functional Implication in Prostate Cancer. Oncogene. 2014.

 

Thompson BA, Spurdle AB, Plazzer JP, Greenblatt MS, Akagi K, Al-Mulla F, Bapat B, Bernstein I, Capella G, den Dunnen JT, du Sart D, Fabre A, Farrell MP, Farrington SM, Frayling IM, Frebourg T, Goldgar DE, Heinen CD, Holinski-Feder E, Kohonen-Corish M, Robinson KL, Leung SY, Martins A, Moller P, Morak M, Nystrom M, Peltomaki P, Pineda M, Qi M, Ramesar R, Rasmussen LJ, Royer-Pokora B, Scott RJ, Sijmons R, Tavtigian SV, Tops CM, Weber T, Wijnen J, Woods MO, Macrae F, Genuardi M. Application of a 5-Tiered Scheme for Standardized Classification of 2,360 Unique Mismatch Repair Gene Variants in the Insight Locus-Specific Database. Nat Genet. 2014;46(2):107-15.

 

Di Toro Mammarella L, Mignarri A, Battisti C, Monti L, Bonifati V, Rasi F, Federico A. Two-Year Follow-up after Chelating Therapy in a Patient with Adult-Onset Parkinsonism and Hypermanganesaemia Due to Slc30a10 Mutations. J Neurol. 2014;261(1):227-8.

 

Vaarhorst AA, Verhoeven A, Weller CM, Bohringer S, Goraler S, Meissner A, Deelder AM, Henneman P, Gorgels AP, van den Brandt PA, Schouten LJ, van Greevenbroek MM, Merry AH, Verschuren WM, van den Maagdenberg AM, van Dijk KW, Isaacs A, Boomsma D, Oostra BA, van Duijn CM, Jukema JW, Boer JM, Feskens E, Heijmans BT, Slagboom PE. A Metabolomic Profile Is Associated with the Risk of Incident Coronary Heart Disease. Am Heart J. 2014;168(1):45-52.e7.

 

van der Veer A, van der Velden VH, Willemse ME, Hoogeveen PG, Petricoin EF, Beverloo HB, Escherich G, Horstmann MA, Pieters R, den Boer ML. Interference with Pre-B-Cell Receptor Signaling Offers a Therapeutic Option for Tcf3-Rearranged Childhood Acute Lymphoblastic Leukemia. Blood Cancer J. 2014;4:e181.

 

Van Der Velden VHJ, Hoogeveen PG, De Ridder D, Schindler-van Der Struijk M, Van Zelm MC, Sanders M, Karsch D, Beverloo HB, Lam K, Orfao A, Lugtenburg PJ, Böttcher S, Van Dongen JJM, Langerak AW, Kappers-Klunne M, Van Lom K. B-Cell Prolymphocytic Leukemia: A Specific Subgroup of Mantle Cell Lymphoma. Blood. 2014;124(3):412-9.

 

Verhoeven WM, Egger JI, Koolen DA, Yntema H, Olgiati S, Breedveld GJ, Bonifati V, van de Warrenburg BP. Beta-Propeller Protein-Associated Neurodegeneration (Bpan), a Rare Form of Nbia: Novel Mutations and Neuropsychiatric Phenotype in Three Adult Patients. Parkinsonism & related disorders. 2014;20(3):332-6.

 

Wielders EA, Hettinger J, Dekker R, Kets CM, Ligtenberg MJ, Mensenkamp AR, van den Ouweland AM, Prins J, Wagner A, Dinjens WN, Dubbink HJ, van Hest LP, Menko F, Hogervorst F, Verhoef S, te Riele H. Functional Analysis of Msh2 Unclassified Variants Found in Suspected Lynch Syndrome Patients Reveals Pathogenicity Due to Attenuated Mismatch Repair. J Med Genet. 2014;51(4):245-53.

 

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 research Part A, Clinical and molecular teratology.  2014;100(6):483-92.

 

de Wit MC, Srebniak MI, Govaerts LC, Van Opstal D, Galjaard RJ, Go AT. Additional Value of Prenatal Genomic Array Testing in Fetuses with Isolated Structural Ultrasound Abnormalities and a Normal Karyotype: A Systematic Review of the Literature. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.  2014;43(2):139-46.

 

Witjas-Paalberends ER, Guclu A, Germans T, Knaapen P, Harms HJ, Vermeer AM, Christiaans I, Wilde AA, Dos Remedios C, Lammertsma AA, van Rossum AC, Stienen GJ, van Slegtenhorst M, Schinkel AF, Michels M, Ho CY, Poggesi C, van der Velden J. Gene-Specific Increase in the Energetic Cost of Contraction in Hypertrophic Cardiomyopathy Caused by Thick Filament Mutations. Cardiovascular research. 2014;103(2):248-57.

 

Wong TH, Chiu WZ, Breedveld GJ, Li KW, Verkerk AJ, Hondius D, Hukema RK, Seelaar H, Frick P, Severijnen LA, Lammers GJ, Lebbink JH, van Duinen SG, Kamphorst W, Rozemuller AJ, Bakker EB, Neumann M, Willemsen R, Bonifati V, Smit AB, van Swieten J. Prkar1b Mutation Associated with a New Neurodegenerative Disorder with Unique Pathology. Brain. 2014;137(Pt 5):1361-73.

 

Yalcin-Cakmakli G, Olgiati S, Quadri M, Breedveld GJ, Cortelli P, Bonifati V, Elibol B. A New Turkish Family with Homozygous Fbxo7 Truncating Mutation and Juvenile Atypical Parkinsonism. Parkinsonism & related disorders. 2014;20(11):1248-52.

 

Conference paper
 Rood J, Quadri M, Graafland J, Maat-Kievit A, Bonifati V, Boon A. The Erasmus Genetic Parkinson's Study (Gps) - Clinical Features and Analysis of Known Pd-Causing Genes. Mov Disord. 2014;29:S61-S.


Book Contribution:

Baart EB, Van Opstal D. Chromosomes in early human embryo development: incidence of chromosomal abnormalities, underlying mechanisms and consequences for development. In  Textbook of Human Reproductive Genetics, Editors Karen Sermon and Stéphane Viville, 2014: 52-68.