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Publicaties 2015

(International) scientific publications:

Alves MM, Fuhler GM, Queiroz KCS, Scholma J, Goorden S, Anink J, Spek CA, Hoogeveen-Westerveld M, Bruno MJ, Nellist M, Elgersma Y, Aronica E, Peppelenbosch MP.
Pak2 Is an Effector of Tsc1/2 Signaling Independent of Mtor and a Potential Therapeutic Target for Tuberous Sclerosis Complex.
Scientific Reports. 2015;5:14534.

Baas M, Galjaard RJ, der Spek P, Hovius SE, van Nieuwenhoven CA.
Letter to the Editor Regarding: "Novel Frame-Shift Mutations of Gli3 Gene in Non-Syndromic Postaxial Polydactyly Patients" Clinica Chimica Acta 433 (2014) 195-199.
Clin Chim Acta. 2015;447:71.

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 GMS, 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).
Clinical Genetics. 2015;87(3):252-8.

Barakat TS, Ghazvini M, de Hoon B, Li T, Eussen B, Douben H, van der Linden R, van der Stap N, Boter M, Laven JS, Galjaard RJ, Grootegoed JA, de Klein A, Gribnau J.
Stable X Chromosome Reactivation in Female Human Induced Pluripotent Stem Cells.
Stem Cell Reports. 2015;4(2):199-208.

Bergen NE, Bouwland-Both MI, Steegers-Theunissen RPM, Hofman A, Russcher H, Lindemans J, Jaddoe VWV, Steegers EAP.
Early Pregnancy Maternal and Fetal Angiogenic Factors and Fetal and Childhood Growth: The Generation R Study.
Human Reproduction. 2015;30(6):1302-13.

Bergsma AJ, Kroos M, Hoogeveen-Westerveld M, Halley D, van der Ploeg AT, Pijnappel WW.
Identification and Characterization of Aberrant Gaa Pre-Mrna Splicing in Pompe Disease Using a Generic Approach.
Human Mutation. 2015;36(1):57-68.

Bertoli-Avella AM, Gillis E, Morisaki H, Verhagen JMA, de Graaf BM, van de Beek G, Gallo E, Kruithof BPT, Venselaar H, Myers LA, Laga S, Doyle AJ, Oswald G, van Cappellen GWA, Yamanaka I, van der Helm RM, Beverloo B, de Klein A, Pardo L, Lammens M, Evers C, Devriendt K, Dumoulein M, Timmermans J, Bruggenwirth HT, Verheijen F, Rodrigus I, Baynam G, Kempers M, Saenen J, Van Craenenbroeck EM, Minatoya K, Matsukawa R, Tsukube T, Kubo N, Hofstra R, Goumans MJ, Bekkers JA, Roos-Hesselink JW, van de Laar IMBH, Dietz HC, Van Laer L, Morisaki T, Wessels MW, Loeys BL.
Mutations in a Tgf-Beta Ligand, Tgfb3, Cause Syndromic Aortic Aneurysms and Dissections.
Journal of the American College of Cardiology. 2015;65(13):1324-36.

Binder E, Natarajan D, Cooper J, Kronfli R, Cananzi M, Delalande JM, McCann C, Burns AJ, Thapar N.
Enteric Neurospheres Are Not Specific to Neural Crest Cultures: Implications for Neural Stem Cell Therapies.
PLoS ONE. 2015;10(3):e0119467.

Blanco I, Kuchenbaecker K, Cuadras D, Wang XS, Barrowdale D, Garibay GR, Librado P, Sanchez-Gracia A, Rozas J, Bonifaci N, McGuffog L, Pankratz VS, Islam A, Mateo F, Berenguer A, Petit A, Catala I, Brunet J, Feliubadalo L, Tornero E, Benitez J, Osorio A, Cajal TRY, Nevanlinna H, Aittomaki 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, Diez O, Hansen TV, Jonson L, Gerdes AM, Ejlertsen B, de la Hoya M, Caldees 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 FBL, van der Hout AH, Seynaeve C, van der Luijt RB, Ligtenberg MJL, Devilee P, Wijnen JT, Rookus MA, Meijers-Heijboer HEJ, Blok MJ, van den Ouweland AMW, Aalfs CM, Rodriguez GC, Phillips KAA, 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, 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, Liljegren A, Rantala J, Stenmark-Askmalm M, Loman N, Imyanitov EN, Hamann U, Spurdle AB, Healey S, Weitzel JN, Herzog J, Margileth D, Gorrini C, Esteller M, Gomez A, Sayols S, Vidal E, Heyn H, Stoppa-Lyonnet, Leone 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, Lazaro C, Easton DF, Offit K, Chenevix-Trench G, Couch FJ, Antoniou AC, Pujana MA, BCFR, SWE-BRCA, Investigators K, GEMO.
Assessing Associations between the Aurka-Hmmr-Tpx2-Tubg1 Functional Module and Breast Cancer Risk in Brca1/2 Mutation Carriers.
PLoS ONE. 2015;10(4):e0120020.

Blein S, Bardel C, Danjean V, McGuffog L, Healey S, Barrowdale D, Lee A, Dennis J, Kuchenbaecker KB, Soucy P, Terry MB, Chung WK, Goldgar DE, Buys SS, Janavicius R, Tihomirova L, Tung N, Dorfling CM, van Rensburg EJ, Neuhausen SL, Ding YC, Gerdes AM, Ejlertsen B, Nielsen FC, Hansen TVO, Osorio A, Benitez J, Conejero RA, Segota E, Weitzel JN, Thelander M, Peterlongo P, Radice P, Pensotti V, Dolcetti R, Bonanni B, Peissel B, Zaffaroni D, Scuvera G, Manoukian S, Varesco L, Capone GL, Papi L, Ottini L, Yannoukakos D, Konstantopoulou I, Garber J, Hamann U, Donaldson A, Brady A, Brewer C, Foo C, Evans DG, Frost D, Eccles D, Douglas F, Cook J, Adlard J, Barwell J, Walker L, Izatt L, Side LE, Kennedy MJ, Tischkowitz M, Rogers MT, Porteous ME, Morrison PJ, Platte R, Eeles R, Davidson R, Hodgson S, Cole T, Godwin AK, Isaacs C, Claes K, De Leeneer K, Meindl A, Gehrig A, Wappenschmidt B, Sutter C, Engel C, Niederacher D, Steinemann D, Plendl H, Kast K, Rhiem K, Ditsch N, Arnold N, Varon-Mateeva R, Schmutzler RK, Preisler-Adams S, Markov NB, Wang-Gohrke S, de Pauw A, Lefol C, Lasset C, Leroux D, Rouleau E, Damiola F, Dreyfus H, Barjhoux L, Golmard L, Uhrhammer N, Bonadona V, Sornin V, Bignon YJ, Carter J, Van Le L, Piedmonte M, DiSilvestro PA, de la Hoya M, Caldes T, Nevanlinna H, Aittomaki K, Jager A, van den Ouweland AMW, Kets CM, Aalfs CM, van Leeuwen FE, Hogervorst FBL, Meijers-Heijboer HEJ, Oosterwijk JC, van Roozendaal KEP, Rookus MA, Devilee P, van der Luijt RB, Olah E, Diez O, Teule A, Lazaro C, Blanco I, Del Valle J, Jakubowska A, Sukiennicki G, Gronwald J, Lubinski J, Durda K, Jaworska-Bieniek K, Agnarsson BA, Maugard C, Amadori A, Montagna M, Teixeira MR, Spurdle AB, Foulkes W, Olswold C, Lindor NM, Pankratz VS, Szabo CI, Lincoln A, Jacobs L, Corines M, Robson M, Vijai J, Berger A, Fink-Retter A, Singer CF, Rappaport C, Kaulich DG, Pfeiler G, Tea MK, Greene MH, Mai PL, Rennert G, Imyanitov EN, Mulligan AM, Glendon G, Andrulis IL, Tchatchou S, Toland AE, Pedersen IS, Thomassen M, Kruse TA, Jensen UB, Caligo MA, Friedman E, Zidan J, Laitman Y, Lindblom A, Melin B, Arver B, Loman N, Rosenquist R, Olopade OI, Nussbaum RL, Ramus SJ, Nathanson KL, Domchek SM, Rebbeck TR, Arun BK, Mitchell G, Karlan BY, Lester J, Orsulic S, Stoppa-Lyonnet D, Thomas G, Simard J, Couch FJ, Offit K, Easton DF, Chenevix-Trench G, Antoniou AC, Mazoyer S, Phelan CM, Sinilnikova OM, Cox DG, Registry BCF, EMBRACE, Collaborators GS, HEBON.
An Original Phylogenetic Approach Identified Mitochondrial Haplogroup T1a1 as Inversely Associated with Breast Cancer Risk in Brca2 Mutation Carriers.
Breast Cancer Research. 2015;17(1):61.

Braat S, D'Hulst C, Heulens I, De Rubeis S, Mientjes E, Nelson DL, Willemsen R, Bagni C, Van Dam D, De Deyn PP, Kooy RF.
The Gabaa Receptor Is an Fmrp Target with Therapeutic Potential in Fragile X Syndrome.
Cell Cycle. 2015;14(18):2985-95.

Bronsema KJ, Bischoff R, Pijnappel WWMP, Van Der Ploeg AT, Van De Merbel NC.
Absolute Quantification of the Total and Antidrug Antibody-Bound Concentrations of Recombinant Human Α-Glucosidase in Human Plasma Using Protein G Extraction and Lc-Ms/Ms.
Analytical Chemistry. 2015;87(8):4394-401.

Brugts JJ, Cuypers JAAE, Polak P, Ouhlous M, van de Woestijne P, Wessels M, Roos-Hesselink J.
Quadricuspid Aortic Valve and Anomalous Systemic Venous Connection in a Patient with Cat-Eye Syndrome.
Circulation. 2015;131(13):1225-7.

Cornelis MC, Byrne EM, Esko T, Nalls MA, Ganna A, Paynter N, Monda KL, Amin N, Fischer K, Renstrom F, Ngwa JS, Huikari V, Cavadino A, Nolte IM, Teumer A, Yu K, Marques-Vidal P, Rawal R, Manichaikul A, Wojczynski MK, Vink JM, Zhao JH, Burlutsky G, Lahti J, Mikkila V, Lemaitre RN, Eriksson J, Musani SK, Tanaka T, Geller F, Luan J, Hui J, Magi R, Dimitriou M, Garcia ME, Ho WK, Wright MJ, Rose LM, Magnusson PKE, Pedersen NL, Couper D, Oostra BA, Hofman A, Ikram MA, Tiemeier HW, Uitterlinden AG, van Rooij FJA, Barroso I, Johansson I, Xue L, Kaakinen M, Milani L, Power C, Snieder H, Stolk RP, Baumeister SE, Biffar R, Gu F, Bastardot F, Kutalik Z, Jacobs DR, Forouhi NG, Mihailov E, Lind L, Lindgren C, Michaelsson K, Morris A, Jensen M, Khaw KT, Luben RN, Wang JJ, Mannisto S, Perala MM, Kahonen M, Lehtimaki T, Viikari J, Mozaffarian D, Mukamal K, Psaty BM, Doring A, Heath AC, Montgomery GW, Dahmen N, Carithers T, Tucker KL, Ferrucci L, Boyd HA, Melbye M, Treur JL, Mellstrom D, Hottenga JJ, Prokopenko I, Tonjes A, Deloukas P, Kanoni S, Lorentzon M, Houston DK, Liu Y, Danesh J, Rasheed A, Mason MA, Zonderman AB, Franke L, Kristal BS, Karjalainen J, Reed DR, Westra HJ, Evans MK, Saleheen D, Harris TB, Dedoussis G, Curhan G, Stumvoll M, Beilby J, Pasquale LR, Feenstra B, Bandinelli S, Ordovas JM, Chan AT, Peters U, Ohlsson C, Gieger C, Martin NG, Waldenberger M, Siscovick DS, Raitakari O, Eriksson JG, Mitchell P, Hunter DJ, Kraft P, Rimm EB, Boomsma DI, Borecki IB, Loos RJF, Wareham NJ, Vollenweider P, Caporaso N, Grabe HJ, Neuhouser ML, Wolffenbuttel BHR, Hu FB, Hypponen E, Jarvelin MR, Cupples LA, Franks PW, Ridker PM, van Duijn CM, Heiss G, Metspalu A, North KE, Ingelsson E, Nettleton JA, van Dam RM, Chasman DI, Consort CCG, Conso IPsDG, Consor NABE, Consortium UBE.
Genome-Wide Meta-Analysis Identifies Six Novel Loci Associated with Habitual Coffee Consumption.
Molecular Psychiatry. 2015;20(5):647-56.
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Cornelissen JJ, Versluis J, Passweg JR, van Putten WLJ, Manz MG, Maertens J, Beverloo HB, Valk PJM, Kooy MV, Wijermans PW, Schaafsma MR, Biemond BJ, Vekemans MC, Breems DA, Verdonck LF, Fey MF, Jongen-Lavrencic M, Janssen JJWM, Huls G, Kuball J, Pabst T, Graux C, Schouten HC, Gratwohl A, Vellenga E, Ossenkoppele G, Lowenberg B, Grp HL, Grp SL.
Comparative Therapeutic Value of Post-Remission Approaches in Patients with Acute Myeloid Leukemia Aged 40-60 Years.
Leukemia. 2015;29(5):1041-50.

Crescenzi B, Nofrini V, Barba G, Matteucci C, Di Giacomo D, Gorello P, Beverloo B, Vitale A, Wlodarska I, Vandenberghe P, La Starza R, Mecucci C.
Nup98/11p15 Translocations Affect Cd34+Cells in Myeloid and T Lymphoid Leukemias.
Leukemia Research. 2015;39(7):769-72.

de Esch CEF, van den Berg WE, Buijsen RAM, Jaafar IA, Nieuwenhuizen-Bakker IM, Gasparini F, Kushner SA, Willemsen R.
Fragile X Mice Have Robust Mglur5-Dependent Alterations of Social Behaviour in the Automated Tube Test.
Neurobiology of Disease. 2015;75:31-9.

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.

Debette S, Verbaas CAI, Bressler J, Schuur M, Smith A, Bis JC, Davies G, Wolf C, Gudnason V, Chibnik LB, Yang Q, Destefano AL, de Quervain DJF, Srikanth V, Lahti J, Grabe HJ, Smith JA, Priebe L, Yu L, Karbalai N, Hayward C, Wilson JF, Campbell H, Petrovic K, Fornage M, Chauhan G, Yeo RB, Boxall R, Becker J, Stegle O, Mather KA, Chouraki V, Sun Q, Rose LM, Resnick S, Oldmeadow C, Kirin M, Wright AF, Jonsdottir MK, Au RD, Becker A, Amin N, Nalls MA, Turner ST, Kardia SLR, Oostra B, Windham G, Coker LH, Zhao W, Knopman DS, Heiss G, Griswold ME, Gottesman RF, Vitart V, Hastie ND, Zgaga L, Rudan I, Polasek O, Holliday EG, Schofield P, Choi SH, Tanaka T, An Y, Perry RT, Kennedy RE, Sale MM, Wang J, Wadley VG, Liewald DC, Ridker PM, Gow AJ, Pattie A, Starr JM, Porteous D, Liu X, Thomson R, Armstrong NJ, Eiriksdottir G, Assareh AA, Kochan NA, Widen E, Palotie A, Hsieh YC, Eriksson JG, Vogler C, van Swieten JC, Shulman JM, Beiser A, Rotter J, Schmidt CO, Hoffmann W, Nothen MM, Ferrucci L, Attia J, Uitterlinden AG, Amouyel P, Dartigues JF, Amieva H, Raikkonen K, Garcia M, Wolf PA, Hofman A, Longstreth WT, Psaty BM, Boerwinkle E, DeJager PL, Sachdev PS, Schmidt R, Breteler MMB, Teumer A, Lopez OL, Cichon S, Chasman DI, Grodstein F, Muller-Myhsok B, Tzourio C, Papassotiropoulos A, Bennett DA, Ikram MA, Deary IJ, van Duijn CM, Launer L, Fitzpatrick AL, Seshadri S, Mosley TH, Genom CHARi.
Genome-Wide Studies of Verbal Declarative Memory in Nondemented Older People: The Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium.
Biological Psychiatry. 2015;77(8):749-63.

Delalande JM, Thapar N, Burns AJ.
Dual Labeling of Neural Crest Cells and Blood Vessels within Chicken Embryos Using Chickgfp Neural Tube Grafting and Carbocyanine Dye Dil Injection.
Journal of Visualized Experiments. 2015;2015(99):e52514.

Dinjens WNM, Dubbink HJ, Wagner A.
Guidelines on Genetic Evaluation and Management of Lynch Syndrome.
Gastrointestinal Endoscopy. 2015;81(1):243-4.

Donze SH, Meijer CR, Kant SG, Zandwijken GRJ, van der Hout AH, van Spaendonk RML, van den Ouweland AMW, Wit JM, Losekoot M, Oostdijk W.
The Growth Response to Gh Treatment Is Greater in Patients with Shox Enhancer Deletions Compared to Shox Defects.
European Journal of Endocrinology. 2015;173(5):611-21.

Duvvari MR, Saksens NTM, van de Ven JPH, de Jong-Hesse Y, Schick T, Nillesen WM, Fauser S, Hoefsloot LH, Hoyng CB, de Jong EK, den Hollander AI.
Analysis of Rare Variants in the Cfh Gene in Patients with the Cuticular Drusen Subtype of Age-Related Macular Degeneration.
Molecular Vision. 2015;21:285-92.

Favejee MM, van den Berg LE, Kruijshaar ME, Wens SC, Praet SF, Pim 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.
Arch Phys Med Rehabil. 2015;96(5):817-22.

Glubb DM, Maranian MJ, Michailidou K, Pooley KA, Meyer KB, Kar S, Carlebur S, O'Reilly M, Betts JA, Hillman KM, Kaufmann S, Beesley J, Canisius S, Hopper JL, Southey MC, Tsimiklis H, Apicella C, Schmidt MK, Broeks A, Hogervorst FB, van der Schoot CE, Muir K, Lophatananon A, Stewart-Brown S, Siriwanarangsan P, Fasching PA, Ruebner M, Ekici AB, Beckmann MW, Peto J, Dos-Santos-Silva I, Fletcher O, Johnson N, Pharoah PDP, Bolla MK, Wang Q, Dennis J, Sawyer EJ, Tomlinson I, Kerin MJ, Miller N, Burwinkel B, Marme F, Yang RX, Surowy H, Guenel P, Truong T, Menegaux F, Sanchez M, Bojesen SE, Nordestgaard BG, Nielsen SF, Flyger H, Gonzelez-Neira A, Benitez J, Zamora MP, Perez JIA, Anton-Culver H, Neuhausen SL, Brenner H, Dieffenbach AK, Arndt V, Stegmaier C, Meindl A, Schmutzler RK, Brauch H, Ko YD, Bruning T, Nevanlinna H, Muranen TA, Aittomaki K, Blomqvist C, Matsuo K, Ito H, Iwata H, Tanaka H, Dork T, Bogdanova NV, Helbig S, Lindblom A, Margolin S, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Wu AH, Tseng CC, Van den Berg D, Stram DO, Lambrechts D, Zhao H, Weltens C, van Limbergen E, Chang-Claude J, Flesch-Janys D, Rudolph A, Seibold P, Radice P, Peterlongo P, Barile M, Capra F, Couch FJ, Olson JE, Hallberg E, Vachon C, Giles GG, Milne RL, McLean C, Haiman CA, Henderson BE, Schumacher F, Le Marchand L, Simard J, Goldberg MS, Labreche F, Dumont M, Teo SH, Yip CH, See MH, Cornes B, Cheng CY, Ikram MK, Kristensen V, Zheng W, Halverson SL, Shrubsole M, Long J, Winqvist R, Pylkas K, Jukkola-Vuorinen A, Kauppila S, Andrulis IL, Knight JA, Glendon G, Tchatchou S, Devilee P, Tollenaar RAEM, Seynaeve C, Van Asperen CJ, Garcia-Closas M, Figueroa J, Chanock SJ, Lissowska J, Czene K, Klevebring D, Darabi H, Eriksson M, Hooning MJ, Hollestelle A, Martens JWM, Collee JM, Hall P, Li JM, Humphreys K, Shu XO, Lu W, Gao YT, Cai H, Cox A, Cross SS, Reed MWR, Blot W, Signorello LB, Cai QY, Shah M, Ghoussaini M, Kang D, Choi JY, Park SK, Noh DY, Hartman M, Miao H, Lim WY, Tang A, Hamann U, Torres D, Jakubowska A, Lubinski J, Jaworska K, Durda K, Sangrajrang S, Gaborieau V, Brennan P, McKay J, Olswold C, Slager S, Toland AE, Yannoukakos D, Shen CY, Wu PE, Yu JC, Hou MF, Swerdlow A, Ashworth A, Orr N, Jones M, Pita G, Alonso MR, Alvarez N, Herrero D, Tessier DC, Vincent D, Bacot F, Luccarini C, Baynes C, Ahmed S, Healey CS, Brown MA, Ponder BAJ, Chenevix-Trench G, Thompson DJ, Edwards SL, Easton DF, Dunning AM, French JD, Network G, Investigators K, Study NBC.
Fine-Scale Mapping of the 5q11.2 Breast Cancer Locus Reveals at Least Three Independent Risk Variants Regulating Map3k1.
American Journal of Human Genetics. 2015;96(1):5-20.

Goldmann T, Zeller N, Raasch J, Kierdorf K, Frenzel K, Ketscher L, Basters A, Staszewski O, Brendecke SM, Spiess A, Tay TL, Kreutz C, Timmer J, Mancini GMS, Blank T, Fritz G, Biber K, Lang R, Malo D, Merkler D, Heikenwalder M, Knobeloch KP, Prinz M.
Usp18 Lack in Microglia Causes Destructive Interferonopathy of the Mouse Brain.
EMBO Journal. 2015;34(12):1612-29.

Goos JAC, van den Ouweland AMW, Swagemakers SMA, Verkerk AJMH, Hoogeboom AJM, van Veelen MLC, Mathijssen IMJ, van der Spek PJ.
A Novel Mutation in Fgfr2.
American Journal of Medical Genetics Part A. 2015;167(1):123-7.

Gröschel S, Sanders MA, Hoogenboezem R, Zeilemaker A, Havermans M, Erpelinck C, Bindels EMJ, Beverloo HB, Döhner H, Löwenberg B, Döhner K, Delwel R, Valk PJM.
Mutational Spectrum of Myeloid Malignancies with Inv(3)/T(3;3) Reveals a Predominant Involvement of Ras/Rtk Signaling Pathways.
Blood. 2015;125(1):133-9.

Guclu A, Happe C, Eren S, Korkmaz IH, Niessen HW, Klein P, van Slegtenhorst M, Schinkel AF, Michels M, van Rossum AC, Germans T, van der Velden J.
Left Ventricular Outflow Tract Gradient Is Associated with Reduced Capillary Density in Hypertrophic Cardiomyopathy Irrespective of Genotype.
Eur J Clin Invest. 2015;45(12):1252-9.

Guo X, Long J, Zeng C, Michailidou K, Ghoussaini M, Bolla MK, Wang Q, Milne RL, Shu XO, Cai Q, Beesley J, Kar SP, Andrulis IL, Anton-Culver H, Arndt V, Beckmann MW, Beeghly-Fadiel A, Benitez J, Blot W, Bogdanova N, Bojesen SE, Brauch H, Brenner H, Brinton L, Broeks A, Bruning T, Burwinkel B, Cai H, Canisius S, Chang-Claude J, Choi JY, Couch FJ, Cox A, Cross SS, Czene K, Darabi H, Devilee P, Droit A, Dork T, Fasching PA, Fletcher O, Flyger H, Fostira F, Gaborieau V, Garcia-Closas M, Giles GG, Grip M, Guenel P, Haiman CA, Hamann U, Hartman M, Hollestelle A, Hopper JL, Hsiung CN, Ito H, Jakubowska A, Johnson N, Kabisch M, Kang D, Khan S, Knight JA, Kosma VM, Lambrechts D, Le Marchand L, Li J, Lindblom A, Lophatananon A, Lubinski J, Mannermaa A, Manoukian S, Margolin S, Marme F, Matsuo K, McLean CA, Meindl A, Muir K, Neuhausen SL, Nevanlinna H, Nord S, Olson JE, Orr N, Peterlongo P, Putti TC, Rudolph A, Sangrajrang S, Sawyer EJ, Schmidt MK, Schmutzler RK, Shen CY, Shi J, Shrubsole MJ, Southey MC, Swerdlow A, Teo SH, Thienpont B, Toland AE, Tollenaar RA, Tomlinson IP, Truong T, Tseng CC, van den Ouweland A, Wen W, Winqvist R, Wu A, Yip CH, Zamora MP, Zheng Y, Hall P, Pharoah PD, Simard J, Chenevix-Trench G, kConFab I, Dunning AM, Easton DF, Zheng W.
Fine-Scale Mapping of the 4q24 Locus Identifies Two Independent Loci Associated with Breast Cancer Risk.
Cancer Epidemiol Biomarkers Prev. 2015;24(11):1680-91.

Hagen J, te Brinke H, Wanders RJA, Knegt AC, Oussoren E, Hoogeboom AJM, Ruijter GJG, Becker D, Schwab KO, Franke I, Duran M, Waterham HR, Sass JO, Houten SM.
Genetic Basis of Alpha-Aminoadipic and Alpha-Ketoadipic Aciduria.
Journal of Inherited Metabolic Disease. 2015;38(5):873-9.

Heemskerk-Gerritsen BAM, Rookus MA, Aalfs CM, Ausems MGEM, Collee JM, Jansen L, Kets CM, Keymeulen KBMI, Koppert LB, Meijers-Heijboer HEJ, Mooij TM, Tollenaar RAEM, Vasen HFA, Hooning MJ, Seynaeve C, Hebon.
Improved Overall Survival after Contralateral Risk-Reducing Mastectomy in Brca1/2 Mutation Carriers with a History of Unilateral Breast Cancer: A Prospective Analysis.
International Journal of Cancer. 2015;136(3):668-77.

Heemskerk-Gerritsen BAM, Seynaeve C, van Asperen CJ, Ausems MGEM, Collee JM, van Doorn HC, Garcia EBG, Kets CM, van Leeuwen FE, Meijers-Heijboer HEJ, Mourits MJE, van Os TAM, Vasen HFA, Verhoef S, Rookus MA, Hooning MJ, Res HBOC.
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Js-X Syndrome: A Multiple Congenital Malformation with Vocal Cord Paralysis, Ear Deformity, Hearing Loss, Shoulder Musculature Underdevelopment, and X-Linked Recessive Inheritance.
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Reversibility of Neuropathology and Motor Deficits in an Inducible Mouse Model for Fxtas.
Human Molecular Genetics. 2015;24(17):4948-57.

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Inaba H, Zhou YM, Abla O, Adachi S, Auvrignon A, Beverloo HB, de Bont E, Chang TT, Creutzig U, Dworzak M, Elitzur S, Fynn A, Forestier E, Hasle H, Liang DC, Lee V, Locatelli F, Masetti R, De Moerloose B, Reinhardt D, Rodriguez L, Van Roy N, Shen SH, Taga T, Tomizawa D, Yeoh AEJ, Zimmermann M, Raimondi SC.
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Jiang Q, Arnold S, Heanue T, Kilambi KP, Doan B, Kapoor A, Ling AY, Sosa MX, Guy M, Jiang Q, Burzynski G, West K, Bessling S, Griseri P, Amiel J, Fernandez RM, Verheij JBGM, Hofstra RMW, Borrego S, Lyonnet S, Ceccherini I, Gray JJ, Pachnis V, McCallion AS, Chakravarti A.
Functional Loss of Semaphorin 3c and/or Semaphorin 3d and Their Epistatic Interaction with Ret Are Critical to Hirschsprung Disease Liability.
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Kalia LV, Lang AE, Hazrati LN, Fujioka S, Wszolek ZK, Dickson DW, Ross OA, Van Deerlin VM, Trojanowski JQ, Hurtig HI, Alcalay RN, Marder KS, Clark LN, Gaig C, Tolosa E, Ruiz-Martinez J, Marti-Masso JF, Ferrer I, de Munain AL, Goldman SM, Schule B, Langston JW, Aasly JO, Giordana MT, Bonifati V, Puschmann A, Canesi M, Pezzoli G, De Paula AM, Hasegawa K, Duyckaerts C, Brice A, Stoessl AJ, Marras C.
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Klein K, Kaspers G, Harrison CJ, Beverloo HB, Reedijk A, Bongers M, Cloos J, Pession A, Reinhardt D, Zimmerman M, Creutzig U, Dworzak M, Alonzo T, Johnston D, Hirsch B, Zapotocky M, De Moerloose B, Fynn A, Lee V, Taga T, Tawa A, Auvrignon A, Zeller B, Forestier E, Salgado C, Balwierz W, Popa A, Rubnitz J, Raimondi S, Gibson B.
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Identification of Six New Susceptibility Loci for Invasive Epithelial Ovarian Cancer.
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Kuipers J, van Ham TJ, Kalicharan RD, Veenstra-Algra A, Sjollema KA, Dijk F, Schnell U, Giepmans BNG.
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Legati A, Giovannini D, Nicolas G, Lopez-Sanchez U, Quintans B, Oliveira JRM, Sears RL, Ramos EM, Spiteri E, Sobrido MJ, Carracedo A, Castro-Fernandez C, Cubizolle S, Fogel BL, Goizet C, Jen JC, Kirdlarp S, Lang AE, Miedzybrodzka Z, Mitarnun W, Paucar M, Paulson H, Pariente J, Richard AC, Salins NS, Simpson SA, Striano P, Svenningsson P, Tison F, Unni VK, Vanakker O, Wessels MW, Wetchaphanphesat S, Yang M, Boller F, Campion D, Hannequin D, Sitbon M, Geschwind DH, Battini JL, Coppola G.
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Leslie EJ, O'Sullivan J, Cunningham ML, Singh A, Goudy SL, Ababneh F, Alsubaie L, Ch'ng GS, van der Laar IMBH, Hoogeboom AJM, Dunnwald M, Kapoor S, Jiramongkolchai P, Standley J, Manak JR, Murray JC, Dixon MJ.
Expanding the Genetic and Phenotypic Spectrum of Popliteal Pterygium Disorders.
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Lewthwaite AJ, Lambert TD, Rolfe EB, Olgiati S, Quadri M, Simons EJ, Morrison KE, Bonifati V, Nicholl DJ.
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Genome-Wide Association Study for Refractive Astigmatism Reveals Genetic Co-Determination with Spherical Equivalent Refractive Error: The Cream Consortium.
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Identification and Characterization of Novel Associations in the Casp8/Als2cr12 Region on Chromosome 2 with Breast Cancer Risk.
Human Molecular Genetics. 2015;24(1):285-98.

Links TP, Verbeek HHG, Hofstra RMW, Plukker JTM.
Progressive Metastatic Medullary Thyroid Carcinoma: First- and Second-Line Strategies.
European Journal of Endocrinology. 2015;172(6):R241-R51.

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Genetic Studies of Body Mass Index Yield New Insights for Obesity Biology.
Nature. 2015;518(7538):197-U401.

Maas SM, Shaw AC, Bikker H, Ludecke 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, Gronborg S, Herkert JC, Hoogeboom AJM, 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 JBGM, Mannens MM, Hennekam RC.
Phenotype and Genotype in 103 Patients with Tricho-Rhino-Phalangeal Syndrome.
European Journal of Medical Genetics. 2015;58(5):279-92.

Massink MPG, Kooi IE, van Mil SE, Jordanova ES, Arneziane N, Dorsman JC, van Beek DM, van der Voorn JP, Sie D, Ylstra B, van Deurzen CLHM, Martens JW, Smid M, Sieuwerts AM, de Weerd V, Foekens JA, van den Ouweland AMW, van Dyk E, Nederlof PM, Waisfisz Q, Meijers-Heijboer H.
Proper Genomic Profiling of (Brca1-Mutated) Basal-Like Breast Carcinomas Requires Prior Removal of Tumor Infiltrating Lymphocytes.
Molecular Oncology. 2015;9(4):877-88.

Mavaddat N, Pharoah PDP, Michailidou K, Tyrer J, Brook MN, Bolla MK, Wang Q, Dennis J, Dunning AM, Shah M, Luben R, Brown J, Bojesen SE, Nordestgaard BG, Nielsen SF, Flyger H, Czene K, Darabi H, Eriksson M, Peto J, dos-Santos-Silva I, Dudbridge F, Johnson N, Schmidt MK, Broeks A, Verhoef S, Rutgers EJ, Swerdlow A, Ashworth A, Orr N, Schoemaker MJ, Figueroa J, Chanock SJ, Brinton L, Lissowska J, Couch FJ, Olson JE, Vachon C, Pankratz VS, Lambrechts D, Wildiers H, Van Ongeval C, Van Limbergen E, Kristensen V, Alnaes GG, Nord S, Borresen-Dale AL, Nevanlinna H, Muranen TA, Aittomaki K, Blomqvist C, Chang-Claude J, Rudolph A, Seibold P, Flesch-Janys D, Fasching PA, Haeberle L, Ekici AB, Beckmann MW, Burwinkel B, Marme F, Schneeweiss A, Sohn C, Trentham-Dietz A, Newcomb P, Titus L, Egan KM, Hunter DJ, Lindstrom S, Tamimi RM, Kraft P, Rahman N, Turnbull C, Renwick A, Seal S, Li JM, Liu JJ, Humphreys K, Benitez J, Zamora MP, Perez JIA, Menendez P, Jakubowska A, Lubinski J, Jaworska-Bieniek K, Durda K, Bogdanova NV, Antonenkova NN, Dork T, Anton-Culver H, Neuhausen SL, Ziogas A, Bernstein L, Devilee P, Tollenaar RAEM, Seynaeve C, van Asperen CJ, Cox A, Cross SS, Reed MWR, Khusnutdinova E, Bermisheva M, Prokofyeva D, Takhirova Z, Meindl A, Schmutzler RK, Sutter C, Yang RX, Schurmann P, Bremer M, Christiansen H, Park-Simon TW, Hillemanns P, Guenel P, Truong T, Menegaux F, Sanchez M, Radice P, Peterlongo P, Manoukian S, Pensotti V, Hopper JL, Tsimiklis H, Apicella C, Southey MC, Brauch H, Bruning T, Ko YD, Sigurdson AJ, Doody MM, Hamann U, Torres D, Ulmer HU, Forsti A, Sawyer EJ, Tomlinson I, Kerin MJ, Miller N, Andrulis IL, Knight JA, Glendon G, Mulligan AM, Chenevix-Trench G, Balleine R, Giles GG, Milne RL, McLean C, Lindblom A, Margolin S, Haiman CA, Henderson BE, Schumacher F, Le Marchand L, Eilber U, Wang-Gohrke S, Hooning MJ, Hollestelle A, van den Ouweland AMW, Koppert LB, Carpenter J, Clarke C, Scott R, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Brenner H, Arndt V, Stegmaier C, Dieffenbach AK, Winqvist R, Pylkas K, Jukkola-Vuorinen A, Grip M, Offit K, Vijai J, Robson M, Rau-Murthy R, Dwek M, Swann R, Perkins KA, Goldberg MS, Labreche F, Dumont M, Eccles DM, Tapper WJ, Rafiq S, John EM, Whittemore AS, Slager S, Yannoukakos D, Toland AE, Yao S, Zheng W, Halverson SL, Gonzalez-Neira A, Pita G, Alonso MR, Alvarez N, Herrero D, Tessier DC, Vincent D, Bacot F, Luccarini C, Baynes C, Ahmed S, Maranian M, Healey CS, Simard J, Hall P, Easton DF, Garcia-Closas M.
Prediction of Breast Cancer Risk Based on Profiling with Common Genetic Variants.
Jnci-J Natl Cancer I. 2015;107(5):djv036.

Meuwissen MEC, Halley DJJ, Smit LS, Lequin MH, Cobben JM, de Coo R, van Harssel J, Sallevelt S, Woldringh G, van der Knaap MS, de Vries LS, Mancini GMS.
The Expanding Phenotype of Col4a1 and Col4a2 Mutations: Clinical Data on 13 Newly Identified Families and a Review of the Literature.
Genetics in Medicine. 2015;17(11):843-53.
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Michailidou K, Beesley J, Lindstrom S, Canisius S, Dennis J, Lush MJ, Maranian MJ, Bolla MK, Wang Q, Shah M, Perkins BJ, Czene K, Eriksson M, Darabi H, Brand JS, Bojesen SE, Nordestgaard BG, Flyger H, Nielsen SF, Rahman N, Turnbull C, Fletcher O, Peto J, Gibson L, dos-Santos-Silva I, Chang-Claude J, Flesch-Janys D, Rudolph A, Eilber U, Behrens S, Nevanlinna H, Muranen TA, Aittomaki K, Blomqvist C, Khan S, Aaltonen K, Ahsan H, Kibriya MG, Whittemore AS, John EM, Malone KE, Gammon MD, Santella RM, Ursin G, Makalic E, Schmidt DF, Casey G, Hunter DJ, Gapstur SM, Gaudet MM, Diver WR, Haiman CA, Schumacher F, Henderson BE, Le Marchand L, Berg CD, Chanock SJ, Figueroa J, Hoover RN, Lambrechts D, Neven P, Wildiers H, van Limbergen E, Schmidt MK, Broeks A, Verhoef S, Cornelissen S, Couch FJ, Olson JE, Hallberg E, Vachon C, Waisfisz Q, Meijers-Heijboer H, Adank MA, van der Luijt RB, Li JM, Liu JJ, Humphreys K, Kang D, Choi JY, Park SK, Yoo KY, Matsuo K, Ito H, Iwata H, Tajima K, Guenel P, Truong T, Mulot C, Sanchez M, Burwinkel B, Marme F, Surowy H, Sohn C, Wu AH, Tseng CC, Van den Berg D, Stram DO, Gonzalez-Neira A, Benitez J, Zamora MP, Perez JIA, Shu XO, Lu W, Gao YT, Cai H, Cox A, Cross SS, Reed MWR, Andrulis IL, Knight JA, Glendon G, Mulligan AM, Sawyer EJ, Tomlinson I, Kerin MJ, Miller N, Lindblom A, Margolin S, Teo SH, Yip CH, Taib NAM, Tan GH, Hooning MJ, Hollestelle A, Martens JWM, Collee JM, Blot W, Signorello LB, Cai QY, Hopper JL, Southey MC, Tsimiklis H, Apicella C, Shen CY, Hsiung CN, Wu PE, Hou MF, Kristensen VN, Nord S, Alnaes GIG, Giles GG, Milne RL, McLean C, Canzian F, Trichopoulos D, Peeters P, Lund E, Sund M, Khaw KT, Gunter MJ, Palli D, Mortensen LM, Dossus L, Huerta JM, Meindl A, Schmutzler RK, Sutter C, Yang R, Muir K, Lophatananon A, Stewart-Brown S, Siriwanarangsan P, Hartman M, Miao H, Chia KS, Chan CW, Fasching PA, Hein A, Beckmann MW, Haeberle L, Brenner H, Dieffenbach AK, Arndt V, Stegmaier C, Ashworth A, Orr N, Schoemaker MJ, Swerdlow AJ, Brinton L, Garcia-Closas M, Zheng W, Halverson SL, Shrubsole M, Long J, Goldberg MS, Labreche F, Dumont M, Winqvist R, Pylkas K, Jukkola-Vuorinen A, Grip M, Brauch H, Hamann U, Bruning T, Radice P, Peterlongo P, Manoukian S, Bernard L, Bogdanova NV, Dork T, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Devilee P, Tollenaar RAEM, Seynaeve C, Van Asperen CJ, Jakubowska A, Lubinski J, Jaworska K, Huzarski T, Sangrajrang S, Gaborieau V, Brennan P, Mckay J, Slager S, Toland AE, Ambrosone CB, Yannoukakos D, Kabisch M, Torres D, Neuhausen SL, Anton-Culver H, Luccarini C, Baynes C, Ahmed S, Healey CS, Tessier DC, Vincent D, Bacot F, Pita G, Alonso MR, Alvarez N, Herrero D, Simard J, Pharoah PPDP, Kraft P, Dunning AM, Chenevix-Trench G, Hall P, Easton DF, BOCS, Investigators K, Grp A, NBCS, Network G.
Genome-Wide Association Analysis of More Than 120,000 Individuals Identifies 15 New Susceptibility Loci for Breast Cancer.
Nature Genetics. 2015;47(4):373-U127.

Monroe GR, Harakalova M, van der Crabben SN, Majoor-Krakauer D, Bertoli-Avella AM, Moll FL, Oranen BI, Dooijes D, Vink A, Knoers NV, Maugeri A, Pals G, Nijman IJ, van Haaften G, Baas AF.
Familial Ehlers-Danlos Syndrome with Lethal Arterial Events Caused by a Mutation in Col5a1.
American Journal of Medical Genetics Part A. 2015;167(6):1196-203.

Mørkrid L, Rowe AD, Elgstoen KBP, Olesen JH, Ruijter G, Hall PL, Tortorelli S, Schulze A, Kyriakopoulou L, Wamelink MMC, Van De Kamp JM, Salomons GS, Rinaldo P.
Continuous Age- and Sex-Adjusted Reference Intervals of Urinary Markers for Cerebral Creatine Deficiency Syndromes: A Novel Approach to the Definition of Reference Intervals.
Clinical Chemistry. 2015;61(5):760-8.

Nellen RGL, Nagtzaam IF, Hoogeboom AJM, Bladergroen RS, Jonkman MF, Steijlen PM, van Steensel MAM, van Geel M.
Phenotypic Variation in Epidermolytic Ichthyosis: Clinical and Functional Evaluation of the Novel P.(Met339lys) Mutation in the L12 Domain of Krt1.
Experimental Dermatology. 2015;24(11):883-5.

Nellist M, Brouwer RWW, Kockx CEM, Van Veghel-Plandsoen M, Withagen-Hermans C, Prins-Bakker L, Hoogeveen-Westerveld M, Mrsic A, van den Berg MMP, Koopmans AE, de Wit MC, Jansen FE, Maat-Kievit AJA, van den Ouweland A, Halley D, de Klein A, van IJcken WFJ.
Targeted Next Generation Sequencing Reveals Previously Unidentified Tsc1 and Tsc2 Mutations.
BMC Medical Genetics. 2015;16:10.

Nellist M, Schot R, Hoogeveen-Westerveld M, Neuteboom RF, van der Louw EJTM, Lequin MH, Bindels-de Heus K, Sibbles BJ, de Coo R, Brooks A, Mancini GMS.
Germline Activating Akt3 Mutation Associated with Megalencephaly, Polymicrogyria, Epilepsy and Hypoglycemia.
Molecular Genetics and Metabolism. 2015;114(3):467-73.

Okray Z, de Esch CEF, Van Esch H, Devriendt K, Claeys A, Yan JK, Verbeeck J, Froyen G, Willemsen R, de Vrij FMS, Hassan BA.
A Novel Fragile X Syndrome Mutation Reveals a Conserved Role for the Carboxy-Terminus in Fmrp Localization and Function.
EMBO Molecular Medicine. 2015;7(4):423-37.

Olgiati S, Thomas A, Quadri M, Breedveld GJ, Graafland J, Eussen H, Douben H, de Klein A, Onofrj M, Bonifati V.
Early-Onset Parkinsonism Caused by Alpha-Synuclein Gene Triplication: Clinical and Genetic Findings in a Novel Family.
Parkinsonism Relat D. 2015;21(8):981-6.

Oosterhof N, Boddeke E, van Ham TJ.
Immune Cell Dynamics in the Cns: Learning from the Zebrafish.
GLIA. 2015;63(5):719-35.

Palchaudhuri R, Lambrecht Michael J, Botham Rachel C, Partlow Kathryn C, van Ham Tjakko J, Putt Karson S, Nguyen Laurie T, Kim S-H, Peterson Randall T, Fan Timothy M, Hergenrother Paul J.
A Small Molecule That Induces Intrinsic Pathway Apoptosis with Unparalleled Speed.
Cell Reports. 2015;13(9):2027-36.

Papadopoulou AS, Serneels L, Achsel T, Mandemakers W, Callaerts-Vegh Z, Dooley J, Lau P, Ayoubi T, Radaelli E, Spinazzi M, Neumann M, Hebert SS, Silahtaroglu A, Liston A, D'Hooge R, Glatzel M, De Strooper B.
Deficiency of the Mir-29a/B-1 Cluster Leads to Ataxic Features and Cerebellar Alterations in Mice.
Neurobiology of Disease. 2015;73:275-88.

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, Garcia EBG, Olopade OI, Nussbaum RL, Nathanson KL, Domchek SM, Rebbeck TR, Arun BK, Karlan BY, Orsulic S, Lester J, Chung WK, Miron A, Southey MC, Goldgar DE, Buys SS, Janavicius R, Dorfling CM, Van Rensburg EJ, Ding YC, Neuhausen SL, Hansen TVO, Gerdes AM, Ejlertsen B, Jønson L, Osorio A, Martínez-Bouzas C, Benitez J, Conway EE, Blazer KR, Weitzel JN, Manoukian S, Peissel B, Zaffaroni D, Scuvera G, Barile M, Ficarazzi F, Mariette F, Fortuzzi S, Viel A, Giannini G, Papi L, Martayan A, Tibiletti MG, Radice P, Vratimos A, Fostira F, Garber JE, Donaldson A, Brewer C, Foo C, Evans DGR, Frost D, Eccles D, Brady A, Cook J, Tischkowitz M, Adlard J, Barwell J, Walker L, Izatt L, Side LE, Kennedy MJ, Rogers MT, Porteous ME, Morrison PJ, Platte R, Davidson R, Hodgson SV, Ellis S, Cole T, Godwin AK, Claes K, Van Maerken T, Meindl A, Gehrig A, Sutter C, Engel C, Niederacher D, Steinemann D, Plendl H, Kast K, Rhiem K, Ditsch N, Arnold N, Varon-Mateeva R, Wappenschmidt B, Wang-Gohrke S, Bressac-De Paillerets B, Buecher B, Delnatte C, Houdayer C, Stoppa-Lyonnet D, Damiola F, Coupier I, Barjhoux L, Venat-Bouvet L, Golmard L, Boutry-Kryza N, Sinilnikova OM, Caron O, Pujol P, Mazoyer S, Belotti M, Piedmonte M, Friedlander ML, Rodriguez GC, Copeland LJ, De La Hoya M, Segura PP, Nevanlinna H, Aittomäki K, Van Os TAM, Meijers-Heijboer HEJ, Van Der Hout AH, Vreeswijk MPG, Hoogerbrugge N, Ausems MGEM, Van Doorn HC, Collee JM, Olah E, Diez O, Blanco I, Lazaro C, Brunet J, Feliubadalo L, Cybulski C, Gronwald J, Durda K, Jaworska-Bieniek K, Sukiennicki G, Arason A, Chiquette J, Teixeira MR, Olswold C, Couch FJ, Lindor NM, Wang X, Szabo CI, Offit K, Corines M, Jacobs L, Robson ME, Zhang L, Joseph V, Berger A, Singer CF, Rappaport C, Kaulich DG, Pfeiler G, Tea MKM, Phelan CM, Greene MH, Mai PL, Rennert G, Mulligan AM, Glendon G, Tchatchou S, Andrulis IL, Toland AE, Bojesen A, Pedersen IS, Thomassen M, Jensen UB, Laitman Y, Rantala J, Von Wachenfeldt A, Ehrencrona H, Askmalm MS, Borg A, Kuchenbaecker KB, McGuffog L, Barrowdale D, Healey S, Lee A, Pharoah PDP, Chenevix-Trench G, Antoniou AC, Friedman E.
Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk Inbrca1andbrca2 Mutation Carriers.
Cancer Epidemiology Biomarkers and Prevention. 2015;24(1):308-16.

Potjer TP, Van Der Stoep N, Houwing-Duistermaat JJ, Konings ICAW, Aalfs CM, Van Den Akker PC, Ausems MG, Dommering CJ, Van Der Kolk LE, Maiburg MC, Spruijt L, Wagner A, Vasen HFA, Hes FJ.
Pancreatic Cancer-Associated Gene Polymorphisms in a Nation-Wide Cohort of P16-Leiden Germline Mutation Carriers; a Case-Control Study Medical Genetics.
BMC Research Notes. 2015;8(1):264.

Quadri M, Kamate M, Sharma S, Olgiati S, Graafland J, Breedveld GJ, Kori I, Hattiholi V, Jain P, Aneja S, Kumar A, Gulati P, Goel M, Talukdar B, Bonifati V.
Manganese Transport Disorder: Novel Slc30a10 Mutations and Early Phenotypes.
Movement Disorders. 2015;30(7):996-1001.

Quadri M, Yang X, Cossu G, Olgiati S, Saddi VM, Breedveld GJ, Ouyang L, Hu JC, Xu N, Graafland J, Ricchi V, Murgia D, Guedes LC, Mariani C, Marti MJ, Tarantino P, Asselta R, Valldeoriola F, Gagliardi M, Pezzoli G, Ezquerra M, Quattrone A, Ferreira J, Annesi G, Goldwurm S, Tolosa E, Oostra BA, Melis M, Wang J, Bonifati V.
An Exome Study of Parkinson's Disease in Sardinia, a Mediterranean Genetic Isolate.
Neurogenetics. 2015;16(1):55-64.

Rebbeck TR, Mitra N, Wan F, Sinilnikova OM, Healey S, McGuffog L, Mazoyer S, Chenevix-Trench G, Easton DF, Antoniou AC, Nathanson KL, Consortium C, Laitman Y, Kushnir A, Paluch-Shimon S, Berger R, Zidan J, Friedman E, Ehrencrona H, Stenmark-Askmalm M, Einbeigi Z, Loman N, Harbst K, Rantala J, Melin B, Huo D, Olopade OI, Seldon J, Ganz PA, Nussbaum RL, Chan SB, Odunsi K, Gayther SA, Domchek SM, Arun BK, Lu KH, Mitchell G, Karlan BY, Walsh C, Lester J, Godwin AK, Pathak H, Ross E, Daly MB, Whittemore AS, John EM, Miron A, Terry MB, Chung WK, Goldgar DE, Buys SS, Janavicius R, Tihomirova L, Tung N, Dorfling CM, van Rensburg EJ, Steele L, Neuhausen SL, Ding YC, Ejlertsen B, Gerdes AM, Hansen T, Ramon y Cajal T, Osorio A, Benitez J, Godino J, Tejada MI, Duran M, Weitzel JN, Bobolis KA, Sand SR, Fontaine A, Savarese A, Pasini B, Peissel B, Bonanni B, Zaffaroni D, Vignolo-Lutati F, Scuvera G, Giannini G, Bernard L, Genuardi M, Radice P, Dolcetti R, Manoukian S, Pensotti V, Gismondi V, Yannoukakos D, Fostira F, Garber J, Torres D, Rashid MU, Hamann U, Peock S, Frost D, Platte R, Evans DG, Eeles R, Davidson R, Eccles D, Cole T, Cook J, Brewer C, Hodgson S, Morrison PJ, Walker L, Porteous ME, Kennedy MJ, Izatt L, Adlard J, Donaldson A, Ellis S, Sharma P, Schmutzler RK, Wappenschmidt B, Becker A, Rhiem K, Hahnen E, Engel C, Meindl A, Engert S, Ditsch N, Arnold N, Plendl HJ, Mundhenke C, Niederacher D, Fleisch M, Sutter C, Bartram CR, Dikow N, Wang-Gohrke S, Gadzicki D, Steinemann D, Kast K, Beer M, Varon-Mateeva R, Gehrig A, Weber BH, Stoppa-Lyonnet D, Sinilnikova OM, Mazoyer S, Houdayer C, Belotti M, Gauthier-Villars M, Damiola F, Boutry-Kryza N, Lasset C, Sobol H, Peyrat JP, Muller D, Fricker JP, Collonge-Rame MA, Mortemousque I, Nogues C, Rouleau E, Isaacs C, De Paepe A, Poppe B, Claes K, De Leeneer K, Piedmonte M, Rodriguez G, Wakely K, Boggess J, Blank SV, Basil J, Azodi M, Phillips KA, Caldes T, de la Hoya M, Romero A, Nevanlinna H, Aittomaki K, van der Hout AH, Hogervorst FB, Verhoef S, Collee JM, Seynaeve C, Oosterwijk JC, Gille JJ, Wijnen JT, Gomez Garcia EB, Kets CM, Ausems MG, Aalfs CM, Devilee P, Mensenkamp AR, Kwong A, Olah E, Papp J, Diez O, Lazaro C, Darder E, Blanco I, Salinas M, Jakubowska A, Lubinski J, Gronwald J, Jaworska-Bieniek K, Durda K, Sukiennicki G, Huzarski T, Byrski T, Cybulski C, Toloczko-Grabarek A, Zlowocka-Perlowska E, Menkiszak J, Arason A, Barkardottir RB, Simard J, Laframboise R, Montagna M, Agata S, Alducci E, Peixoto A, Teixeira MR, Spurdle AB, Lee MH, Park SK, Kim SW, Friebel TM, Couch FJ, Lindor NM, Pankratz VS, Guidugli L, Wang X, Tischkowitz M, Foretova L, Vijai J, Offit K, Robson M, Rau-Murthy R, Kauff N, Fink-Retter A, Singer CF, Rappaport C, Gschwantler-Kaulich D, Pfeiler G, Tea MK, Berger A, Greene MH, Mai PL, Imyanitov EN, Toland AE, Senter L, Bojesen A, Pedersen IS, Skytte AB, Sunde L, Thomassen M, Moeller ST, Kruse TA, Jensen UB, Caligo MA, Aretini P, Teo SH, Selkirk CG, Hulick PJ, Andrulis I.
Association of Type and Location of Brca1 and Brca2 Mutations with Risk of Breast and Ovarian Cancer.
Jama. 2015;313(13):1347-61.

Rohrer JD, Nicholas JM, Cash DM, van Swieten J, Dopper E, Jiskoot L, van Minkelen R, Rombouts SA, Cardoso MJ, Clegg S, Espak M, Mead S, Thomas DL, De Vita E, Masellis M, Black SE, Freedman M, Keren R, MacIntosh BJ, Rogaeva E, Tang-Wai D, Tartaglia MC, Laforce R, Tagliavini F, Tiraboschi P, Redaelli V, Prioni S, Grisoli M, Borroni B, Padovani A, Galimberti D, Scarpini E, Arighi A, Fumagalli G, Rowe JB, Coyle-Gilchrist I, Graff C, Fallstrom M, Jelic V, Stahlbom AK, Andersson C, Thonberg H, Lilius L, Frisoni GB, Pievani M, Bocchetta M, Benussi L, Ghidoni R, Finger E, Sorbi S, Nacmias B, Lombardi G, Polito C, Warren JD, Ourselin S, Fox NC, Rossor MN.
Presymptomatic Cognitive and Neuroanatomical Changes in Genetic Frontotemporal Dementia in the Genetic Frontotemporal Dementia Initiative (Genfi) Study: A Cross-Sectional Analysis.
Lancet Neurology. 2015;14(3):253-62.

Sanders MA, Kavelaars FG, Zeilemaker A, Al Hinai ASA, Abbas S, Beverloo HB, van Lom K, Valk PJM.
Rna Sequencing Reveals a Unique Fusion of the Lysine (K)-Specific Methyltransferase 2a and Smooth Muscle Myosin Heavy Chain 11 in Myelodysplastic Syndrome and Acute Myeloid Leukemia.
Haematologica. 2015;100(1):E1-E3.

Schaaf GJ, van Gestel TJM, Brusse E, Verdijk RM, de Coo IFM, van Doorn PA, van der Ploeg AT, Pijnappel WWMP.
Lack of Robust Satellite Cell Activation and Muscle Regeneration During the Progression of Pompe Disease.
Acta Neuropathol Com. 2015;3:65.

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. 2015;23(2):224-8.

Schoser B, Laforet P, Kruijshaar ME, Toscano A, van Doorn PA, van der Ploeg AT, European Pompe C.
208th Enmc International Workshop: Formation of a European Network to Develop a European Data Sharing Model and Treatment Guidelines for Pompe Disease Naarden, the Netherlands, 26-28 September 2014.
Neuromuscul Disord. 2015;25(8):674-8.

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New Genetic Loci Link Adipose and Insulin Biology to Body Fat Distribution.
Nature. 2015;518(7538):187-U378.

Silva CT, Kors JA, Amin N, Dehghan A, Witteman JCM, Willemsen R, Oostra BA, van duijn CM, Isaacs A.
Heritabilities, Proportions of Heritabilities Explained by Gwas Findings, and Implications of Cross-Phenotype Effects on Pr Interval.
Human Genetics. 2015;134(11-12):1211-9.

Springelkamp H, Mishra A, Hysi PG, Gharahkhani P, Hohn R, Khor CC, Bailey JNC, Luo XY, Ramdas WD, Vithana E, Koh V, Yazar S, Xu L, Forward H, Kearns LS, Amin N, Iglesias AI, Sim KS, van Leeuwen EM, Demirkan A, van der Lee S, Loon SC, Rivadeneira F, Nag A, Sanfilippo PG, Schillert A, de Jong PTVM, Oostra BA, Uitterlinden AG, Hofman A, Zhou T, Burdon KP, Spector TD, Lackner KJ, Saw SM, Vingerling JR, Teo YY, Pasquale LR, Wolfs RCW, Lemij HG, Tai ES, Jonas JB, Cheng CY, Aung T, Jansonius NM, Klaver CCW, Craig JE, Young TL, Haines JL, MacGregor S, Mackey DA, Pfeiffer N, Wong TY, Wiggs JL, Hewitt AW, van Duijn CM, Hammond CJ, Consortium N.
Meta-Analysis of Genome-Wide Association Studies Identifies Novel Loci Associated with Optic Disc Morphology.
Genetic Epidemiology. 2015;39(3):207-16.

Srebniak MI, Van Opstal D, Joosten M, Diderich KEM, De Vries FAT, Riedijk S, Knapen MFCM, Go ATJI, Govaerts LCP, Galjaard RJH.
Whole-Genome Array as a First-Line Cytogenetic Test in Prenatal Diagnosis.
Ultrasound Obst Gyn. 2015;45(4):363-72.

Syx D, Van Damme T, Symoens S, Maiburg MC, van de Laar I, Morton J, Suri M, Del Campo M, Hausser I, Hermanns-Le T, De Paepe A, Malfait F.
Genetic Heterogeneity and Clinical Variability in Musculocontractural Ehlers-Danlos Syndrome Caused by Impaired Dermatan Sulfate Biosynthesis.
Human Mutation. 2015;36(5):535-47.

Taglia I, Bonifati V, Mignarri A, Dotti MT, Federico A.
Primary Familial Brain Calcification: Update on Molecular Genetics.
Neurological Sciences. 2015;36(5):787-94.

Teles Alves I, Hartjes T, McClellan E, Hiltemann S, Böttcher 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. 2015;34(5):568-77.
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ten Broeke SW, Brohet RM, Tops CM, van der Klift HM, Velthuizen ME, Bernstein I, Capella 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.
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Terhal PA, Nievelstein RJAJ, Verver EJJ, Topsakal V, van Dommelen P, Hoornaert K, Le Merrer M, Zankl A, Simon MEH, Smithson SF, Marcelis C, Kerr B, Clayton-Smith J, Kinning E, Mansour S, Elmslie F, Goodwin L, van der Hout AH, Veenstra-Knol HE, Herkert JC, Lund AM, Hennekam RCM, Megarbane A, Lees MM, Wilson LC, Male A, Hurst J, Alanay Y, Anneren G, Betz RC, Bongers EMHF, Cormier-Daire V, Dieux A, David A, Elting MW, van den Ende J, Green A, van Hagen JM, Hertel NT, Holder-Espinasse M, den Hollander N, Homfray T, Hove HD, Price S, Raas-Rothschild A, Rohrbach M, Schroeter B, Suri M, Thompson EM, Tobias ES, Toutain A, Vreeburg M, Wakeling E, Knoers NV, Coucke P, Mortier GR.
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American Journal of Medical Genetics Part A. 2015;167(3):461-75.

Timofeeva MN, Ben K. i. n. n. e. r. s. l. e. y. , Farrington SM, Whiffin N, Palles C, Svinti V, Lloyd A, Gorman M, Ooi LY, Hosking F, Barclay E, Zgaga L, Dobbins S, Martin L, Theodoratou E, Broderick P, Tenesa A, Smillie C, Grimes G, Hayward C, Campbell A, Porteous D, Deary IJ, Harris SE, Northwood EL, Barrett JH, Smith G, Wolf R, Forman D, Morreau H, Ruano D, Tops C, Wijnen J, Schrumpf M, Boot A, Vasen HFA, Hes FJ, van Wezel T, Franke A, Lieb W, Schafmayer C, Hampe J, Buch S, Propping P, Hemminki K, Forsti A, Westers H, Hofstra R, Pinheiro M, Pinto C, Teixeira M, Ruiz-Ponte C, Fernandez-Rozadilla C, Carracedo A, Castells A, Castellvi-Bel S, Campbell H, Bishop DT, Tomlinson IPM, Dunlop MG, Houlston RS.
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Scientific Reports. 2015;5:16286.

Twigg SRF, Forecki J, Goos JAC, Richardson ICA, Hoogeboom AJM, van den Ouweland AMW, Swagemakers SMA, Lequin MH, Van Antwerp D, McGowan SJ, Westbury I, Miller KA, Wall SA, van der Spek PJ, Mathijssen IMJ, Pauws E, Merzdorf CS, Wilkie AOM, Consortium W.
Gain-of-Function Mutations in Zic1 Are Associated with Coronal Craniosynostosis and Learning Disability.
American Journal of Human Genetics. 2015;97(3):378-88.

Twigt JM, Bezstarosti K, Demmers J, Lindemans J, Laven JSE, Steegers-Theunissen RP.
Preconception Folic Acid Use Influences the Follicle Fluid Proteome.
European Journal of Clinical Investigation. 2015;45(8):833-41.

Van Beek JGM, Koopmans AE, Vaarwater J, Verdijk RM, De Klein A, Naus NC, Kiliç E.
Metastatic Disease in Uveal Melanoma: Importance of a Genetic Profile?
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van de Kamp JM, Errami A, Howidi M, Anselm I, Winter S, Phalin-Roque J, Osaka H, van Dooren SJM, Mancini GM, Steinberg SJ, Salomons GS.
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van de Luijtgaarden KM, Heijsman D, Maugeri A, Weiss MM, Verhagen HJM, Ijpma A, Brüggenwirth HT, Majoor-Krakauer D.
First Genetic Analysis of Aneurysm Genes in Familial and Sporadic Abdominal Aortic Aneurysm.
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van de Putte R, Wijers CHW, de Blaauw I, Feitz WFJ, Marcelis CLM, Hakobjan M, Sloots CEJ, van Bever Y, Brunner HG, Roeleveld N, van Rooij IALM, van der Zanden LFM.
Sequencing of the Dkk1 Gene in Patients with Anorectal Malformations and Hypospadias.
European Journal of Pediatrics. 2015;174(5):583-7.

van den Berg LE, Favejee MM, Wens SC, Kruijshaar ME, Praet SF, Reuser AJ, Bussmann JB, van Doorn PA, van der Ploeg AT.
Safety and Efficacy of Exercise Training in Adults with Pompe Disease: Evalution of Endurance, Muscle Strength and Core Stability before and after a 12 Week Training Program.
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Van Den Bosch T, Vaarwater J, Verdijk R, Muller K, Kiliç E, Paridaens D, De Klein A, Naus N.
Risk Factors Associated with Secondary Enucleation after Fractionated Stereotactic Radiotherapy in Uveal Melanoma.
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van der Meer LB, van Duijn E, Giltay EJ, Tibben A.
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van der Post RS, Vogelaar IP, Manders P, van der Kolk LE, Cats A, van Hest LP, Sijmons R, Aalfs CM, Ausems MG, Gomez Garcia EB, Wagner A, Hes FJ, Arts N, Mensenkamp AR, van Krieken JH, Hoogerbrugge N, Ligtenberg MJ.
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van der Steen SL, Diderich KEM, Riedijk SR, Verhagen-Visser J, Govaerts LCP, Joosten M, Knapen MFCM, Van Opstal D, Srebniak MI, Tibben A, Galjaard RJH.
Pregnant Couples at Increased Risk for Common Aneuploidies Choose Maximal Information from Invasive Genetic Testing.
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van der Werf CS, Halim D, Verheij JBGM, Alves MM, Hofstra RMW.
Congenital Short Bowel Syndrome: From Clinical and Genetic Diagnosis to the Molecular Mechanisms Involved in Intestinal Elongation.
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van Gelder CM, Hoogeveen-Westerveld M, Kroos MA, Plug I, van der Ploeg AT, Reuser AJ.
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van Huet RAC, Pierrache LHM, Meester-Smoor MA, Klaver CCW, van den Born LI, Hoyng CB, de Wijs IJ, Collin RWJ, Hoefsloot LH, Klevering BJ.
The Efficacy of Microarray Screening for Autosomal Recessive Retinitis Pigmentosa in Routine Clinical Practice.
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van Kranenburg M, Hoogeveen-Westerveld M, Nellist M.
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van Leeuwen EM, Karssen LC, Deelen J, Isaacs A, Medina-Gomez C, Mbarek H, Kanterakis A, Trompet S, Postmus I, Verweij N, van Enckevort DJ, Huffman JE, White CC, Feitosa MF, Bartz TM, Manichaikul A, Joshi PK, Peloso GM, Deelen P, van Dijk F, Willemsen G, de Geus EJ, Milaneschi Y, Penninx BW, Francioli LC, Menelaou A, Pulit SL, Rivadeneira F, Hofman A, Oostra BA, Franco OH, Mateo Leach I, Beekman M, de Craen AJ, Uh HW, Trochet H, Hocking LJ, Porteous DJ, Sattar N, Packard CJ, Buckley BM, Brody JA, Bis JC, Rotter JI, Mychaleckyj JC, Campbell H, Duan Q, Lange LA, Wilson JF, Hayward C, Polasek O, Vitart V, Rudan I, Wright AF, Rich SS, Psaty BM, Borecki IB, Kearney PM, Stott DJ, Adrienne Cupples L, Genome of The Netherlands C, Jukema JW, van der Harst P, Sijbrands EJ, Hottenga JJ, Uitterlinden AG, Swertz MA, van Ommen GJ, de Bakker PI, Eline Slagboom P, Boomsma DI, Wijmenga C, van Duijn CM.
Genome of the Netherlands Population-Specific Imputations Identify an Abca6 Variant Associated with Cholesterol Levels.
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van Minkelen R, Guitart M, Escofet C, Yoon G, Elfferich P, Bolman GM, van der Helm R, van de Graaf R, van den Ouweland AM.
Complete Aptx Deletion in a Patient with Ataxia with Oculomotor Apraxia Type 1.
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Van Opstal D, de Vries F, Govaerts L, Boter M, Lont D, van Veen S, Joosten M, Diderich K, Galjaard RJ, Srebniak MI.
Benefits and Burdens of Using a Snp Array in Pregnancies at Increased Risk for the Common Aneuploidies.
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van Ravenswaaij-Arts CM, Blake K, Hoefsloot L, Verloes A.
Clinical Utility Gene Card For: Charge Syndrome - Update 2015.
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Verhagen JM, de Leeuw N, Papatsonis DN, Grijseels EW, de Krijger RR, Wessels MW.
Phenotypic Variability Associated with a Large Recurrent 1q21.1 Microduplication in a Three-Generation Family.
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Verloes A, Di Donato N, Masliah-Planchon J, Jongmans M, Abdul-Raman OA, Albrecht B, Allanson J, Brunner H, Bertola D, Chassaing N, David A, Devriendt K, Eftekhari P, Drouin-Garraud V, Faravelli F, Faivre L, Giuliano F, Guion Almeida L, Juncos J, Kempers M, Eker HK, Lacombe D, Lin A, Mancini G, Melis D, Lourenço CM, Siu VM, Morin G, Nezarati M, Nowaczyk MJM, Ramer JC, Osimani S, Philip N, Pierpont ME, Procaccio V, Roseli ZS, Rossi M, Rusu C, Sznajer Y, Templin L, Uliana V, Klaus M, Van Bon B, Van Ravenswaaij C, Wainer B, Fry AE, Rump A, Hoischen A, Drunat S, Rivière JB, Dobyns WB, Pilz DT.
Baraitser-Winter Cerebrofrontofacial Syndrome: Delineation of the Spectrum in 42 Cases.
European Journal of Human Genetics. 2015;23(3):292-301.

Verma J, Thomas DC, Sharma S, Jhingan G, Singh A, Hsiao KJ, Schoonderwoerd K, Puri RD, Verma IC.
Inherited Metabolic Disorders: Quality Management for Laboratory Diagnosis.
Clinica Chimica Acta. 2015;447:1-7.

Vodopiutz J, Seidl R, Prayer D, Khan MI, Mayr JA, Streubel B, Steiss JO, Hahn A, Csaicsich D, Castro C, Assoum M, Muller T, Wieczorek D, Mancini GMS, Sadowski CE, Levy N, Megarbane A, Godbole K, Schanze D, Hildebrandt F, Delague V, Janecke AR, Zenker M.
Wdr73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease.
Human Mutation. 2015;36(11):1021-8.

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 DJJ, Van Den Hout MCGN, Van Hove S, Johansson LF, Jongbloed JDH, Kamps R, Kockx CEM, De Koning B, Kriek M, Lekanne Dit Deprez R, 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, Marjan Weiss J, Van Den Wijngaard A, Van Workum W, Ijntema H, Van Der Zwaag B, Van Ijcken WFJ, Den Dunnen J, Veltman JA, Hennekam R, Cuppen E.
Next-Generation Sequencing-Based Genome Diagnostics across Clinical Genetics Centers: Implementation Choices and Their Effects.
European Journal of Human Genetics. 2015;23(9):1142-50.

Vroegindeweij LHP, van der Beek EH, Boon AJW, Hoogendoorn M, Kievit JA, Wilson JHP, Langendonk JG.
Aceruloplasminemia Presents as Type 1 Diabetes in Non-Obese Adults: A Detailed Case Series.
Diabetic Med. 2015;32(8):993-1000.

Wamelink MMC, Ramos RJJF, van den Elzen APM, Ruijter GJG, Bonte R, Diogo L, Garcia P, Neves N, Nota B, Haschemi A, Tavares de Almeida I, Salomons GS.
First Two Unrelated Cases of Isolated Sedoheptulokinase Deficiency: A Benign Disorder?
Journal of Inherited Metabolic Disease. 2015;38(5):889-94.

Wang TT, de Kok L, Willemsen R, Elgersma Y, Borst JGG.
In Vivo Synaptic Transmission and Morphology in Mouse Models of Tuberous Sclerosis, Fragile X Syndrome, Neurofibromatosis Type 1, and Costello Syndrome.
Frontiers in Cellular Neuroscience. 2015;9(JULY):234.

Wessels MW, Herkert JC, Frohn-Mulder IM, Dalinghaus M, van den Wijngaard A, de Krijger RR, Michels M, de Coo IFM, Hoedemaekers YM, Dooijes D.
Compound Heterozygous or Homozygous Truncating Mybpc3 Mutations Cause Lethal Cardiomyopathy with Features of Noncompaction and Septal Defects.
European Journal of Human Genetics. 2015;23(7):922-8.
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Wevers MR, Schmidt MK, Engelhardt EG, Verhoef S, Hooning MJ, Kriege M, Seynaeve C, Collee M, van Asperen CJ, Tollenaar RAEM, Koppert LB, Witkamp AJ, Rutgers EJT, Aaronson NK, Rookus MA, Ausems MGEM.
Timing of Risk Reducing Mastectomy in Breast Cancer Patients Carrying a Brca1/2 Mutation: Retrospective Data from the Dutch Hebon Study.
Familial Cancer. 2015;14(3):355-63.

Wijnands KPJ, Obermann-Borst SA, Steegers-Theunissen RPM.
Early Life Lipid Profile and Metabolic Programming in Very Young Children.
Nutr Metab Cardiovas. 2015;25(6):608-14.

Willemsen SP, Eilers PHC, Steegers-Theunissen RPM, Lesaffre E.
A Multivariate Bayesian Model for Embryonic Growth.
Statistics in Medicine. 2015;34(8):1351-65.

Wong TH, Verkerk AJ, Rozemuller AJ, Willemsen R, Neumann M, Bonifati V, van Swieten J.
Reply: Prkar1b Mutations Are a Rare Cause of Fus Negative Neuronal Intermediate Filament Inclusion Disease.
Brain. 2015;138(Pt 6):e358.

Young HM, Stamp LA, Hofstra RM.
Hirschsprung Disease and Activation of Hedgehog Signaling Via Gli1-3 Mutations.
Gastroenterology. 2015;149(7):1672-5.

Zazo Seco C, Serrão De Castro L, Van Nierop JW, Morín M, Jhangiani S, Verver EJJ, Schraders M, Maiwald N, Wesdorp M, Venselaar H, Spruijt L, Oostrik J, Schoots J, Van Reeuwijk J, Lelieveld SH, Huygen PLM, Insenser M, Admiraal RJC, Pennings RJE, Hoefsloot LH, Arias-Vásquez A, De Ligt J, Yntema HG, Jansen JH, Muzny DM, Huls G, Van Rossum MM, Lupski JR, Moreno-Pelayo MA, Kunst HPM, Kremer H.
Allelic Mutations of Kitlg, Encoding Kit Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2.
American Journal of Human Genetics. 2015;97(5):647-60.

Zeidler S, Hukema RK, Willemsen R.
The Quest for Targeted Therapy in Fragile X Syndrome.
Expert Opinion on Therapeutic Targets. 2015;19(10):1277-81.

Zhang B, Shu XO, Delahanty RJ, Zeng C, Michailidou K, Bolla MK, Wang Q, Dennis J, Wen W, Long J, Li C, Dunning AM, Chang-Claude J, Shah M, Perkins BJ, Czene K, Darabi H, Eriksson M, Bojesen SE, Nordestgaard BG, Nielsen SF, Flyger H, Lambrechts D, Neven P, Wildiers H, Floris G, Schmidt MK, Rookus MA, van den Hurk K, de Kort WL, Couch FJ, Olson JE, Hallberg E, Vachon C, Rudolph A, Seibold P, Flesch-Janys D, Peto J, Dos-Santos-Silva I, Fletcher O, Johnson N, Nevanlinna H, Muranen TA, Aittomaki K, Blomqvist C, Li J, Humphreys K, Brand J, Guenel P, Truong T, Cordina-Duverger E, Menegaux F, Burwinkel B, Marme F, Yang R, Surowy H, Benitez J, Zamora MP, Perez JI, Cox A, Cross SS, Reed MW, Andrulis IL, Knight JA, Glendon G, Tchatchou S, Sawyer EJ, Tomlinson I, Kerin MJ, Miller N, Chenevix-Trench G, kConFab Investigators AOSG, Haiman CA, Henderson BE, Schumacher F, Marchand LL, Lindblom A, Margolin S, Hooning MJ, Martens JW, Tilanus-Linthorst MM, Collee JM, Hopper JL, Southey MC, Tsimiklis H, Apicella C, Slager S, Toland AE, Ambrosone CB, Yannoukakos D, Giles GG, Milne RL, McLean C, Fasching PA, Haeberle L, Ekici AB, Beckmann MW, Brenner H, Dieffenbach AK, Arndt V, Stegmaier C, Swerdlow AJ, Ashworth A, Orr N, Jones M, Figueroa J, Garcia-Closas M, Brinton L, Lissowska J, Dumont M, Winqvist R, Pylkas K, Jukkola-Vuorinen A, Grip M, Brauch H, Bruning T, Ko YD, Peterlongo P, Manoukian S, Bonanni B, Radice P, Bogdanova N, Antonenkova N, Dork T, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Devilee P, Seynaeve C, Van Asperen CJ, Jakubowska A, Lubinski J, Jaworska-Bieniek K, Durda K, Hamann U, Torres D, Schmutzler RK, Neuhausen SL, Anton-Culver H, Kristensen VN, Grenaker Alnaes GI, Project D, Pierce BL, Kraft P, Peters U, Lindstrom S, Seminara D, Burgess S, Ahsan H, Whittemore AS, John EM, Gammon MD, Malone KE, Tessier DC, Vincent D, Bacot F, Luccarini C, Baynes C, Ahmed S, Maranian M, Healey CS, Gonzalez-Neira A, Pita G, Alonso MR, Alvarez N, Herrero D, Pharoah PD, Simard J, Hall P, Hunter DJ, Easton DF, Zheng W.
Height and Breast Cancer Risk: Evidence from Prospective Studies and Mendelian Randomization.
J Natl Cancer Inst. 2015;107(11):djv219.

 

PhD theses 2015

Anna E. Koopmans
Prognostic Implications of Acquired Genetic Changes in Uveal Melanoma
Promotors: Prof.dr. J.R. Vingerling, Prof.dr. D. Paridaens
Co-promotors: Dr. J.E.M.M. de Klein, Dr. E Kiliç
T3: 04-02-15
Affiliations: Department of Ophthalmology and Deperatment of Clinical Genetics, Erasmus MC, University Medical Centre, Rotterdam, The Netherlands
Number of pages: 232

Celine H.M. Leenen
Diagnostic Strategies for Early Lynch Syndrome Detection, from molecular testing to economic evaluation
Promotors: Prof.dr. E.J. Kuipers, Prof. dr. E.W. Steyerberg
Co-promotors: Dr. W.N.M. Dinjens, Dr. M.E. van Leerdam, Dr. A. Wagner
T3: 28-01-15
Affiliations: Department of Gastroenterology and Hepatology and Department of Clinical Genetics, Erasmus MC, University Medical Centre, Rotterdam, The Netherlands
Number of pages: 197


Book contribution

Bednarek S, Borowski D, Brȩborowicz GH, Cnota W, Czuba B, Dubiel M, Janiak K, Kosińska-Kaczyńska K, Lewandowska A, Nowakowska B, Pietryga M, Ropacka-Lesiak M, Serwach M, Sieroszewski P, Sodowski K, Szaflik K, Srebniak MI, Wertheim-Tysarowska K, Wȩgrzyn P, Wielgoś M, Wloch A.
Diagnostyka Prenatalna w Praktyce.
Editors: Wȩgrzyn P, Borowski D, Wielgoś M.