Human Genetics

2013

Effects of flecainide on exercise-induced ventricular arrhythmias and recurrences in genotype-negative patients with catecholaminergic polymorphic ventricular tachycardia

Watanabe, H., van der Werf, C., Roses-Noguer, F., Adler, A., Sumitomo, N., Veltmann, C., Rosso, R., Bhuiyan, Z. A., Bikker, H., Kannankeril, P. J., Horie, M., Minamino, T., Viskin, S., Knollmann, B. C., Till, J. & Wilde, A. A. M., 2013, In: Heart Rhythm. 10, 4, p. 542-547

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83 Citations (Scopus)

Elements of morphology: general terms for congenital anomalies

Hennekam, R. C., Biesecker, L. G., Allanson, J. E., Hall, J. G., Opitz, J. M., Temple, I. K. & Carey, J. C., 2013, In: American journal of medical genetics. Part A. 161AA, 11, p. 2726-2733

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99 Citations (Scopus)

Elements of morphology: standard terminology for the external genitalia

Hennekam, R. C. M., Allanson, J. E., Biesecker, L. G., Carey, J. C., Opitz, J. M. & Vilain, E., 2013, In: American journal of medical genetics. Part A. 161AA, 6, p. 1238-1263

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17 Citations (Scopus)

END NOTE Network maps of the human brain's rich club

Sporns, O. & Van Den Heuvel, M. P., 1 Jan 2013, In: Network Science. 1, 2, p. 248-250 3 p.

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5 Citations (Scopus)

Episodic Memory Impairment in Frontotemporal Dementia; A Tc-99m-HMPAO SPECT Study

Papma, J. M., Seelaar, H., de Koning, I., Hasan, D., Reijs, A., Valkema, R., Prins, N. D. & van Swieten, J. C., 2013, In: Current Alzheimer research. 10, 3, p. 332-339

Research output: Contribution to journal › Article › Academic › peer-review

10 Citations (Scopus)

Estimating false positives and negatives in brain networks

de Reus, M. A. & van den Heuvel, M. P., 5 Apr 2013, In: NEUROIMAGE. 70, p. 402-409 8 p.

Research output: Contribution to journal › Article › Academic › peer-review

188 Citations (Scopus)

Ethnicity, educational level and attitudes contribute to parental intentions about genetic testing for child obesity

Kocken, P. L., Theunissen, M. H. C., Schonbeck, Y., Henneman, L., Janssens, A. C. & Detmar, S. B., 2013, In: Journal of Community Genetics. 4, 2, p. 243-250

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5 Citations (Scopus)

Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations

Alders, M., Mendola, A., Adès, L., Al Gazali, L., Bellini, C., Dallapiccola, B., Edery, P., Frank, U., Hornshuh, F., Huisman, S. A., Jagadeesh, S., Kayserili, H., Keng, W. T., Lev, D., Prada, C. E., Sampson, J. R., Schmidtke, J., Shashi, V., van Bever, Y., van der Aa, N., & 4 othersVerhagen, J. M., Verheij, J. B., Vikkula, M. & Hennekam, R. C., 2013, In: Molecular syndromology. 4, 3, p. 107-113

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42 Citations (Scopus)

Evidence of a polygenic origin of extreme high-density lipoprotein cholesterol levels

Motazacker, M. M., Peter, J., Treskes, M., Shoulders, C. C., Kuivenhoven, J. A. & Hovingh, G. K., 2013, In: Arteriosclerosis, Thrombosis, and Vascular Biology. 33, 7, p. 1521-1528

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49 Citations (Scopus)

Excess breast cancer risk in first degree relatives of CHEK2*1100delC positive familial breast cancer cases

Adank, M. A., Verhoef, S., Oldenburg, R. A., Schmidt, M. K., Hooning, M. J., Martens, J. W. M., Broeks, A., Rookus, M., Waisfisz, Q., Witte, B. I., Jonker, M. A. & Meijers-Heijboer, H., 2013, In: European Journal of Cancer. 49, 8, p. 1993-1999

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20 Citations (Scopus)

Exhaled molecular profiles in the assessment of cystic fibrosis and primary ciliary dyskinesia

Paff, T., van der Schee, M. P., Daniels, J. M. A., Pals, G., Postmus, P. E., Sterk, P. J. & Haarman, E. G., 2013, In: Journal of cystic fibrosis. 12, 5, p. 454-460

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47 Citations (Scopus)

Exome Sequencing Identifies A Branch Point Variant in AarskogScott Syndrome

Aten, E., Sun, Y., Almomani, R., Santen, G. W. E., Messemaker, T., Maas, S. M., Breuning, M. H. & den Dunnen, J. T., 2013, In: Human mutation. 34, 3, p. 430-434

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15 Citations (Scopus)

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

AUTHOR GROUP, 2013, In: Journal of medical genetics. 50, 5, p. 309-323

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110 Citations (Scopus)

Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy

Kevelam, S. H. G., Bugiani, M., Salomons, G. S., Feigenbaum, A., Blaser, S., Prasad, C., Haberle, J., Baric, I., Bakker, I. M. C., Postma, N. L., Kanhai, W. A., Wolf, N. I., Abbink, G. E. M., Waisfisz, Q., Heutink, P., van der Knaap, M. S., Häberle, J. & Abbink, T. E. M., 2013, In: Brain. 136, 5, p. 1534-1543

Research output: Contribution to journal › Article › Academic › peer-review

72 Citations (Scopus)

Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus

Beunders, G., Voorhoeve, E., Golzio, C., Pardo, L. M., Rosenfeld, J. A., Talkowski, M. E., Simonic, I., Lionel, A. C., Vergult, S., Pyatt, R. E., van de Kamp, J. M., Nieuwint, A. W. M., Weiss, M. M., Rizzu, P., Verwer, L. E. N. I., van Spaendonk, R. M. L., Shen, Y. P., Wu, B. L., Yu, T. T., Yu, Y. G., & 43 othersChiang, C., Gusella, J. F., Lindgren, A. M., Morton, C. C., van Binsbergen, E., Bulk, S., van Rossem, E., Vanakker, O., Armstrong, R., Park, S. M., Greenhalgh, L., Maye, U., Neill, N. J., Abbott, K. M., Sell, S., Ladda, R., Farber, D. M., Bader, P. I., Cushing, T., Drautz, J. M., Konczal, L., Nash, P., de Los Reyes, E., Carter, M. T., Hopkins, E., Marshall, C. R., Osborne, L. R., Gripp, K. W., Thrush, D. L., Hashimoto, S., Gastier-Foster, J. M., Astbury, C., Ylstra, B., Meijers-Heijboer, E. J., Posthuma, D., Menten, B., Mortier, G., Scherer, S. W., Eichler, E. E., Girirajan, S., Katsanis, N., Groffen, A. J. A. & Sistermans, E. A., 7 Feb 2013, In: American journal of human genetics. 92, 2, p. 210-220 11 p.

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Open Access

118 Citations (Scopus)

Expanded clinical spectrum of enhanced S-cone syndrome

Yzer, S., Barbazetto, I., Allikmets, R., van Schooneveld, M. J., Bergen, A., Tsang, S. H., Jacobson, S. G. & Yannuzzi, L. A., 2013, In: JAMA ophthalmology. 131, 10, p. 1324-1330

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51 Citations (Scopus)

Exploring the Morphospace of Communication Efficiency in Complex Networks

Goñi, J., Avena-Koenigsberger, A., Velez de Mendizabal, N., van den Heuvel, M. P., Betzel, R. F. & Sporns, O., 7 Mar 2013, In: PLOS ONE. 8, 3, e58070.

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

103 Citations (Scopus)

Extracolonic cancer risk in patients with serrated polyposis syndrome and their first-degree relatives

Hazewinkel, Y., Reitsma, J. B., Nagengast, F. M., Vasen, H. F., van Os, T. A. M., van Leerdam, M. E., Koornstra, J-J. & Dekker, E., 2013, In: Familial Cancer. 12, 4, p. 669-673

Research output: Contribution to journal › Article › Academic › peer-review

22 Citations (Scopus)

FADS2 Genetic Variance in Combination with Fatty Acid Intake Might Alter Composition of the Fatty Acids in Brain

Rizzi, T. S., van der Sluis, S., Derom, C., Thiery, E., van Kesteren, R. E., Jacobs, N., van Gestel, S., Vlietinck, R., Verhage, M., Heutink, P. & Posthuma, D., 2013, In: PLOS ONE. 8, 6, p. e68000 e68000.

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

13 Citations (Scopus)

FOXO3a is a major target of inactivation by PI3K/AKT signaling in aggressive neuroblastoma

Santo, E. E., Stroeken, P., Sluis, P. V., Koster, J., Versteeg, R. & Westerhout, E. M., 2013, In: Cancer research. 73, 7, p. 2189-2198

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112 Citations (Scopus)

Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers

van Rijsingen, I. A. W., Nannenberg, E. A., Arbustini, E., Elliott, P. M., Mogensen, J., Hermans-van Ast, J. F., van der Kooi, A. J., van Tintelen, J. P., van den Berg, M. P., Grasso, M., Serio, A., Jenkins, S., Rowland, C., Richard, P., Wilde, A. A. M., Perrot, A., Pankuweit, S., Zwinderman, A. H., Charron, P., Christiaans, I., & 1 othersPinto, Y. M., 2013, In: European journal of heart failure. 15, 4, p. 376-384

Research output: Contribution to journal › Article › Academic › peer-review

114 Citations (Scopus)

Gene expression and functional annotation of the human and mouse choroid plexus epithelium

Janssen, S. F., van der Spek, S. J. F., ten Brink, J. B., Essing, A. H. W., Gorgels, T. G. M. F., van der Spek, P. J., Jansonius, N. M. & Bergen, A. A. B., 2013, In: PLOS ONE. 8, 12, p. e83345

Research output: Contribution to journal › Article › Academic › peer-review

37 Citations (Scopus)

Genes encoding heterotrimeric G-proteins are associated with gray matter volume variations in the medial frontal cortex

Chavarría-Siles, I. M., Rijpkema, M., Arias-Vasquez, A., Verhage, M., Franke, B., Fernández, G. & Posthuma, D., 2013, In: Cerebral cortex. 23, 5, p. 1025-1030

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Open Access

4 Citations (Scopus)

Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience

van Spaendonck-Zwarts, K. Y., van Rijsingen, I. A. W., van den Berg, M. P., Lekanne Deprez, R. H., Post, J. G., van Mil, A. M., Asselbergs, F. W., Christiaans, I., van Langen, I. M., Wilde, A. A. M., de Boer, R. A., Jongbloed, J. D. H., Pinto, Y. M. & van Tintelen, J. P., 2013, In: European journal of heart failure. 15, 6, p. 628-636

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135 Citations (Scopus)

Genetic and phenotypic heterogeneity in sporadic and familial forms of paroxysmal dyskinesia

Groffen, A. J. A., Klapwijk, T., Van Rootselaar, A. F., Groen, J. L. & Tijssen, M. A. J., 2013, In: Journal of neurology. 260, 1, p. 93-99 7 p.

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Open Access

46 Citations (Scopus)

Genetic basis of hyperlysinemia

Houten, S. M., te Brinke, H., Denis, S., Ruiter, J. P., Knegt, A. C., de Klerk, J. B., Augoustides-Savvopoulou, P., Häberle, J., Baumgartner, M. R., Coşkun, T., Zschocke, J., Sass, J. O., Poll-The, B. T., Wanders, R. J. & Duran, M., 2013, In: Orphanet Journal of Rare Diseases. 8, 1, p. 57

Research output: Contribution to journal › Article › Academic › peer-review

35 Citations (Scopus)

Genetic factors account for most of the variation in serum tryptase - A twin study

Sverrild, A., Van Der Sluis, S., Kyvik, K. O., Garvey, L. H., Porsbjerg, C., Backer, V. & Thomsen, S. F., 1 Oct 2013, In: Annals of Allergy, Asthma and Immunology. 111, 4, p. 286-289 4 p.

Research output: Contribution to journal › Article › Academic › peer-review

13 Citations (Scopus)

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

Lee, S. H., Ripke, S., Neale, B. M., Faraone, S. V., Purcell, S. M., Perlis, R. H., Mowry, B. J., Thapar, A., Goddard, M. E., Witte, J. S., Absher, D., Agartz, I., Akil, H., Amin, F., Andreassen, O. A., Anjorin, A., Anney, R., Anttila, V., Arking, D. E., Asherson, P., & 353 othersAzevedo, M. H., Backlund, L., Badner, J. A., Bailey, A. J., Banaschewski, T., Barchas, J. D., Barnes, M. R., Barrett, T. B., Bass, N., Battaglia, A., Bauer, M., Bayés, M., Bellivier, F., Bergen, S. E., Berrettini, W., Betancur, C., Bettecken, T., Biederman, J., Binder, E. B., Black, D. W., Blackwood, D. H. R., Bloss, C. S., Boehnke, M., Boomsma, D. I., Breen, G., Breuer, R., Bruggeman, R., Cormican, P., Buccola, N. G., Buitelaar, J. K., Bunney, W. E., Buxbaum, J. D., Byerley, W. F., Byrne, E. M., Caesar, S., Cahn, W., Cantor, R. M., Casas, M., Chakravarti, A., Chambert, K., Choudhury, K., Cichon, S., Cloninger, C. R., Collier, D. A., Cook, E. H., Coon, H., Cormand, B., Corvin, A., Coryell, W. H., Craig, D. W., Craig, I. W., Crosbie, J., Cuccaro, M. L., Curtis, D., Czamara, D., Datta, S., Dawson, G., Day, R., de Geus, E. J., Degenhardt, F., Djurovic, S., Donohoe, G. J., Doyle, A. E., Duan, J., Dudbridge, F., Duketis, E., Ebstein, R. P., Edenberg, H. J., Elia, J., Ennis, S., Etain, B., Fanous, A., Farmer, A. E., Ferrier, I. N., Flickinger, M., Fombonne, E., Foroud, T., Frank, J., Franke, B., Fraser, C., Freedman, R., Freimer, N. B., Freitag, C. M., Friedl, M., Frisén, L., Gallagher, L., Gejman, P. V., Georgieva, L., Gershon, E. S., Geschwind, D. H., Giegling, I., Gill, M., Gordon, S. D., Gordon-Smith, K., Green, E. K., Greenwood, T. A., Grice, D. E., Gross, M., Grozeva, D., Guan, W., Gurling, H., de Haan, L., Haines, J. L., Hakonarson, H., Hallmayer, J., Hamilton, S. P., Hamshere, M. L., Hansen, T. F., Hartmann, A. M., Hautzinger, M., Heath, A. C., Henders, A. K., Herms, S., Hickie, I. B., Hipolito, M., Hoefels, S., Holmans, P. A., Holsboer, F., Hoogendijk, W. J., Hottenga, J-J., Hultman, C. M., Hus, V., Ingason, A., Ising, M., Jamain, S., Jones, E. G., Jones, I., Jones, L., Tzeng, J-Y., Kähler, A. K., Kahn, R. S., Kandaswamy, R., Keller, M. C., Kennedy, J. L., Kenny, E., Kent, L., Kim, Y., Kirov, G. K., Klauck, S. M., Klei, L., Knowles, J. A., Kohli, M. A., Koller, D. L., Konte, B., Korszun, A., Krabbendam, L., Krasucki, R., Kuntsi, J., Kwan, P., Landén, M., Långström, N., Lathrop, M., Lawrence, J., Lawson, W. B., Leboyer, M., Ledbetter, D. H., Lee, P. H., Lencz, T., Lesch, K-P., Levinson, D. F., Lewis, C. M., Li, J., Lichtenstein, P., Lieberman, J. A., Lin, D-Y., Linszen, D. H., Liu, C., Lohoff, F. W., Loo, S. K., Lord, C., Lowe, J. K., Lucae, S., MacIntyre, D. J., Madden, P. A. F., Maestrini, E., Magnusson, P. K. E., Mahon, P. B., Maier, W., Malhotra, A. K., Mane, S. M., Martin, C. L., Martin, N. G., Mattheisen, M., Matthews, K., Mattingsdal, M., McCarroll, S. A., McGhee, K. A., McGough, J. J., McGrath, P. J., McGuffin, P., McInnis, M. G., McIntosh, A., McKinney, R., McLean, A. W., McMahon, F. J., McMahon, W. M., McQuillin, A., Medeiros, H., Medland, S. E., Meier, S., Melle, I., Meng, F., Meyer, J., Middeldorp, C. M., Middleton, L., Milanova, V., Miranda, A., Monaco, A. P., Montgomery, G. W., Moran, J. L., Moreno-de-Luca, D., Morken, G., Morris, D. W., Morrow, E. M., Moskvina, V., Muglia, P., Mühleisen, T. W., Muir, W. J., Müller-Myhsok, B., Murtha, M., Myers, R. M., Myin-Germeys, I., Neale, M. C., Nelson, S. F., Nievergelt, C. M., Nikolov, I., Nimgaonkar, V., Nolen, W. A., Nöthen, M. M., Nurnberger, J. I., Nwulia, E. A., Nyholt, D. R., O'Dushlaine, C., Oades, R. D., Olincy, A., Oliveira, G., Olsen, L., Ophoff, R. A., Osby, U., Owen, M. J., Palotie, A., Parr, J. R., Paterson, A. D., Pato, C. N., Pato, M. T., Penninx, B. W., Pergadia, M. L., Pericak-Vance, M. A., Pickard, B. S., Pimm, J., Piven, J., Posthuma, D., Potash, J. B., Poustka, F., Propping, P., Puri, V., Quested, D. J., Quinn, E. M., Ramos-Quiroga, J. A., Rasmussen, H. B., Raychaudhuri, S., Rehnström, K., Reif, A., Ribasés, M., Rice, J. P., Rietschel, M., Roeder, K., Roeyers, H., Rossin, L., Rothenberger, A., Rouleau, G., Ruderfer, D., Rujescu, D., Sanders, A. R., Sanders, S. J., Santangelo, S. L., Sergeant, J. A., Schachar, R., Schalling, M., Schatzberg, A. F., Scheftner, W. A., Schellenberg, G. D., Scherer, S. W., Schork, N. J., Schulze, T. G., Schumacher, J., Schwarz, M., Scolnick, E., Scott, L. J., Shi, J., Shilling, P. D., Shyn, S. I., Silverman, J. M., Slager, S. L., Smalley, S. L., Smit, J. H., Smith, E. N., Sonuga-Barke, E. J. S., St Clair, D., State, M., Steffens, M., Steinhausen, H-C., Strauss, J. S., Strohmaier, J., Stroup, T. S., Sutcliffe, J. S., Szatmari, P., Szelinger, S., Thirumalai, S., Thompson, R. C., Todorov, A. A., Tozzi, F., Treutlein, J., Uhr, M., van den Oord, E. J. C. G., van Grootheest, G., van Os, J., Vicente, A. M., Vieland, V. J., Vincent, J. B., Visscher, P. M., Walsh, C. A., Wassink, T. H., Watson, S. J., Weissman, M. M., Werge, T., Wienker, T. F., Wijsman, E. M., Willemsen, G., Williams, N., Willsey, A. J., Witt, S. H., Xu, W., Young, A. H., Yu, T. W., Zammit, S., Zandi, P. P., Zhang, P., Zitman, F. G., Zöllner, S., Devlin, B., Kelsoe, J. R., Sklar, P., Daly, M. J., O'Donovan, M. C., Craddock, N., Sullivan, P. F., Smoller, J. W., Kendler, K. S., Wray, N. R., Corman, B., Langstrom, N. & Nyholt, DR., 2013, In: Nature Genetics. 45, 9, p. 984-994

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Open Access

1720 Citations (Scopus)

Genetics of HDL-C: a causal link to atherosclerosis?

van Capelleveen, J. C., Bochem, A. E., Motazacker, M. M., Hovingh, G. K. & Kastelein, J. J. P., 2013, In: Current Atherosclerosis Reports. 15, 6, p. 326

Research output: Contribution to journal › Article › Academic › peer-review

30 Citations (Scopus)

Genetic testing and implications for personalized medicine: changes in public and healthcare professional perspectives

Henneman, L., van El, C. G. & Cornel, M. C., 2013, In: Personalized Medicine. 10, 3, p. 217-219

Research output: Contribution to journal › Article › Academic › peer-review

2 Citations (Scopus)

Genome-wide association analysis identifies 13 new risk loci for schizophrenia

Ripke, S., O'Dushlaine, C., Chambert, K., Moran, J. L., Kähler, A. K., Akterin, S., Bergen, S. E., Collins, A. L., Crowley, J. J., Fromer, M., Kim, Y., Lee, S. H., Magnusson, P. K. E., Sanchez, N., Stahl, E. A., Williams, S., Wray, N. R., Xia, K., Bettella, F., Borglum, A. D., & 151 othersBulik-Sullivan, B. K., Cormican, P., Craddock, N., de Leeuw, C., Durmishi, N., Gill, M., Golimbet, V., Hamshere, M. L., Holmans, P., Hougaard, D. M., Kendler, K. S., Lin, K., Morris, D. W., Mors, O., Mortensen, P. B., Neale, B. M., O'Neill, F. A., Owen, M. J., Milovancevic, M. P., Posthuma, D., Powell, J., Richards, A. L., Riley, B. P., Ruderfer, D., Rujescu, D., Sigurdsson, E., Silagadze, T., Smit, A. B., Stefansson, H., Steinberg, S., Suvisaari, J., Tosato, S., Verhage, M., Walters, J. T., Levinson, D. F., Gejman, P. V., Laurent, C., Mowry, B. J., O'Donovan, M. C., Pulver, A. E., Schwab, S. G., Wildenauer, D. B., Dudbridge, F., Shi, J., Albus, M., Alexander, M., Campion, D., Cohen, D., Dikeos, D., Duan, J., Eichhammer, P., Godard, S., Hansen, M., Lerer, F. B., Liang, K-Y., Maier, W., Mallet, J., Nertney, D. A., Nestadt, G., Norton, N., Papadimitriou, G. N., Ribble, R., Sanders, A. R., Silverman, J. M., Walsh, D., Williams, N. M., Wormley, B., Arranz, M. J., Bakker, S., Bender, S., Bramon, E., Collier, D., Crespo-Facorro, B., Hall, J., Iyegbe, C., Jablensky, A., Kahn, R. S., Kalaydjieva, L., Lawrie, S., Lewis, C. M., Linszen, D. H., Mata, I., McIntosh, A., Murray, R. M., Ophoff, R. A., van Os, J., Walshe, M., Weisbrod, M., Wiersma, D., Donnelly, P., Barroso, I., Blackwell, J. M., Brown, M. A., Casas, J. P., Corvin, A. P., Deloukas, P., Duncanson, A., Jankowski, J., Markus, H. S., Mathew, C. G., Palmer, C. N. A., Plomin, R., Rautanen, A., Sawcer, S. J., Trembath, R. C., Viswanathan, A. C., Wood, N. W., Spencer, C. C. A., Band, G., Bellenguez, C., Freeman, C., Hellenthal, G., Giannoulatou, E., Pirinen, M., Pearson, R. D., Strange, A., Su, Z., Vukcevic, D., Langford, C., Hunt, S. E., Edkins, S., Gwilliam, R., Blackburn, H., Bumpstead, S. J., Dronov, S., Gillman, M., Gray, E., Hammond, N., Jayakumar, A., McCann, O. T., Liddle, J., Potter, S. C., Ravindrarajah, R., Ricketts, M., Tashakkori-Ghanbaria, A., Waller, M. J., Weston, P., Widaa, S., Whittaker, P., McCarthy, M. I., Stefansson, K., Scolnick, E., Purcell, S., McCarroll, S. A., Sklar, P., Hultman, C. M., Sullivan, P. F., Walters, T. J., Donnely, P., Barasso, I. & Barrroso, I., 2013, In: Nature Genetics. 45, 10, p. 1150-1159

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1192 Citations (Scopus)

Genome-wide association studies identify four ER negative-specific breast cancer risk loci

Garcia-Closas, M., Couch, F. J., Lindstrom, S., Michailidou, K., Schmidt, M. K., Brook, M. N., Orr, N., Rhie, S. K., Riboli, E., Feigelson, H. S., Le Marchand, L., Buring, J. E., Eccles, D., Miron, P., Fasching, P. A., Brauch, H., Chang-Claude, J., Carpenter, J., Godwin, A. K., Nevanlinna, H., & 252 othersGiles, G. G., Cox, A., Hopper, J. L., Bolla, M. K., Wang, Q., Dennis, J., Dicks, E., Howat, W. J., Schoof, N., Bojesen, S. E., Lambrechts, D., Broeks, A., Andrulis, I. L., Guénel, P., Burwinkel, B., Sawyer, E. J., Hollestelle, A., Fletcher, O., Winqvist, R., Brenner, H., Mannermaa, A., Hamann, U., Meindl, A., Lindblom, A., Zheng, W., Devillee, P., Goldberg, M. S., Lubinski, J., Kristensen, V., Swerdlow, A., Anton-Culver, H., Dörk, T., Muir, K., Matsuo, K., Wu, A. H., Radice, P., teo, S. H., Shu, X-O., Blot, W., Kang, D., Hartman, M., Sangrajrang, S., Shen, C-Y., Southey, M. C., Park, D. J., Hammet, F., Stone, J., Veer, L. J. V., Rutgers, E. J., Lophatananon, A., Stewart-Brown, S., Siriwanarangsan, P., Peto, J., Schrauder, M. G., Ekici, A. B., Beckmann, M. W., dos Santos Silva, I., Johnson, N., Warren, H., Tomlinson, I., Kerin, M. J., Miller, N., Marme, F., Schneeweiss, A., Sohn, C., Truong, T., Laurent-Puig, P., Kerbrat, P., Nordestgaard, B. G., Nielsen, S. F., Flyger, H., Milne, R. L., Perez, J. I. A., Menéndez, P., Müller, H., Arndt, V., Stegmaier, C., Lichtner, P., Lochmann, M., Justenhoven, C., Ko, Y-D., Muranen, T. A., Aittomäki, K., Blomqvist, C., Greco, D., Heikkinen, T., Ito, H., Iwata, H., Yatabe, Y., Antonenkova, N. N., Margolin, S., Kataja, V., Kosma, V-M., Hartikainen, J. M., Balleine, R., Tseng, C-C., Berg, D. V. D., Stram, D. O., Neven, P., Dieudonné, A-S., Leunen, K., Rudolph, A., Nickels, S., Flesch-Janys, D., Peterlongo, P., Peissel, B., Bernard, L., Olson, J. E., Wang, X., Stevens, K., Severi, G., Baglietto, L., McLean, C., Coetzee, G. A., Feng, Y., Henderson, B. E., Schumacher, F., Bogdanova, N. V., Labrèche, F., Dumont, M., Yip, C. H., Taib, N. A. M., Cheng, C-Y., Shrubsole, M., Long, J., Pylkäs, K., Jukkola-Vuorinen, A., Kauppila, S., Knight, J. A., Glendon, G., Mulligan, A. M., Tollenaar, R. A. E. M., Seynaeve, C. M., Kriege, M., Hooning, M. J., van den Ouweland, A. M. W., van Deurzen, C. H. M., Lu, W., Gao, Y-T., Cai, H., Balasubramanian, S. P., Cross, S. S., Reed, M. W. R., Signorello, L., Cai, Q., Shah, M., Miao, H., Chan, C. W., Chia, K. S., Jakubowska, A., Jaworska, K., Durda, K., Hsiung, C-N., Wu, P-E., Yu, J-C., Ashworth, A., Jones, M., Tessier, D. C., González-Neira, A., Pita, G., Alonso, M. R., Vincent, D., Bacot, F., Ambrosone, C. B., Bandera, E. V., John, E. M., Chen, G. K., Hu, J. J., Rodriguez-Gil, J. L., Bernstein, L., Press, M. F., Ziegler, R. G., Millikan, R. M., Deming-Halverson, S. L., Nyante, S., Ingles, S. A., Waisfisz, Q., Tsimiklis, H., Makalic, E., Schmidt, D., Bui, M., Gibson, L., Müller-Myhsok, B., Schmutzler, R. K., Hein, R., Dahmen, N., Beckmann, L., Aaltonen, K., Czene, K., Irwanto, A., Liu, J., Turnbull, C., Rahman, N., Meijers-Heijboer, H., Uitterlinden, A. G., Rivadeneira, F., Olswold, C., Slager, S., Pilarski, R., Ademuyiwa, F., Konstantopoulou, I., Martin, N. G., Montgomery, G. W., Slamon, D. J., Rauh, C., Lux, M. P., Jud, S. M., Bruning, T., Weaver, J., Sharma, P., Pathak, H., Tapper, W., Gerty, S., Durcan, L., Trichopoulos, D., Tumino, R., Peeters, P. H., Kaaks, R., Campa, D., Canzian, F., Weiderpass, E., Johansson, M., Khaw, K-T., Travis, R., Clavel-Chapelon, F., Kolonel, L. N., Chen, C., Beck, A., Hankinson, S. E., Berg, C. D., Hoover, R. N., Lissowska, J., Figueroa, J. D., Chasman, D. I., Gaudet, M. M., Diver, W. R., Willett, W. C., Hunter, D. J., Simard, J., Benitez, J., Dunning, A. M., Sherman, M. E., Chenevix-Trench, G., Chanock, S. J., Hall, P., Pharoah, P. D. P., Vachon, C., Easton, D. F., Haiman, C. A., Kraft, P., Michailidouo, K. & Tomlins, I., 2013, In: Nature Genetics. 45, 4, p. 392-8, 398e1-2

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331 Citations (Scopus)

Genome-wide association study identifies loci on 12q24 and 13q32 associated with Tetralogy of Fallot

Cordell, H. J., Töpf, A., Mamasoula, C., Postma, A. V., Bentham, J., Zelenika, D., Heath, S., Blue, G., Cosgrove, C., Granados riveron, J., Darlay, R., Soemedi, R., Wilson, I. J., Ayers, K. L., Rahman, T. J., Hall, D., Mulder, B. J. M., Zwinderman, A. H., Van engelen, K., Brook, J. D., & 17 othersSetchfield, K., Bu'lock, F. A., Thornborough, C., O'sullivan, J., Stuart, A. G., Parsons, J., Bhattacharya, S., Winlaw, D., Mital, S., Gewillig, M., Breckpot, J., Devriendt, K., Moorman, A. F. M., Rauch, A., Lathrop, G. M., Keavney, B. D. & Goodship, J. A., Apr 2013, In: Human Molecular Genetics. 22, 7, p. 1473-1481 9 p., dds552.

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Open Access

70 Citations (Scopus)

Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk

Couch, F. J., Wang, X., McGuffog, L., Lee, A., Olswold, C., Kuchenbaecker, K. B., Soucy, P., Fredericksen, Z., Barrowdale, D., Dennis, J., Gaudet, M. M., Dicks, E., Kosel, M., Healey, S., Sinilnikova, O. M., Lee, A., Bacot, F., Vincent, D., Hogervorst, F. B. L., Peock, S., & 242 othersStoppa-Lyonnet, D., Jakubowska, A., Radice, P., Schmutzler, R. K., Domchek, S. M., Piedmonte, M., Singer, C. F., Friedman, E., Thomassen, M., Hansen, T. V. O., Neuhausen, S. L., Szabo, C. I., Blanco, I., Greene, M. H., Karlan, B. Y., Garber, J., Phelan, C. M., Weitzel, J. N., Montagna, M., Olah, E., Andrulis, I. L., Godwin, A. K., Yannoukakos, D., Goldgar, D. E., Caldes, T., Nevanlinna, H., Osorio, A., Terry, M. B., Daly, M. B., van Rensburg, E. J., Hamann, U., Ramus, S. J., Toland, A. E., Caligo, M. A., Olopade, O. I., Tung, N., Claes, K., Beattie, M. S., Southey, M. C., Imyanitov, E. N., Tischkowitz, M., Janavicius, R., John, E. M., Kwong, A., Diez, O., Balmaña, J., Barkardottir, R. B., Arun, B. K., Rennert, G., teo, S-H., Ganz, P. A., Campbell, I., van der Hout, A. H., van Deurzen, C. H. M., Seynaeve, C., Gómez Garcia, E. B., van Leeuwen, F. E., Meijers-Heijboer, H. E. J., Gille, J. J. P., Ausems, M. G. E. M., Blok, M. J., Ligtenberg, M. J. L., Rookus, M. A., Devilee, P., Verhoef, S., van Os, T. A. M., Wijnen, J. T., Frost, D., Ellis, S., Fineberg, E., Platte, R., Evans, D. G., Izatt, L., Eeles, R. A., Adlard, J., Eccles, D. M., Cook, J., Brewer, C., Douglas, F., Hodgson, S., Morrison, P. J., Side, L. E., Donaldson, A., Houghton, C., Rogers, M. T., Dorkins, H., Eason, J., Gregory, H., McCann, E., Murray, A., Calender, A., Hardouin, A., Berthet, P., Delnatte, C., Nogues, C., Lasset, C., Houdayer, C., Leroux, D., Rouleau, E., Prieur, F., Damiola, F., Sobol, H., Coupier, I., Venat-Bouvet, L., Castera, L., Gauthier-Villars, M., Léoné, M., Pujol, P., Mazoyer, S., Bignon, Y-J., Złowocka-Perłowska, E., Gronwald, J., Lubinski, J., Durda, K., Jaworska, K., Huzarski, T., Spurdle, A. B., Viel, A., Peissel, B., Bonanni, B., Melloni, G., Ottini, L., Papi, L., Varesco, L., Tibiletti, M. G., Peterlongo, P., Volorio, S., Manoukian, S., Pensotti, V., Arnold, N., Engel, C., Deissler, H., Gadzicki, D., Gehrig, A., Kast, K., Rhiem, K., Meindl, A., Niederacher, D., Ditsch, N., Plendl, H., Preisler-Adams, S., Engert, S., Sutter, C., Varon-Mateeva, R., Wappenschmidt, B., Weber, B. H. F., Arver, B., Stenmark-Askmalm, M., Loman, N., Rosenquist, R., Einbeigi, Z., Nathanson, K. L., Rebbeck, T. R., Blank, S. V., Cohn, D. E., Rodriguez, G. C., Small, L., Friedlander, M., Bae-Jump, V. L., Fink-Retter, A., Rappaport, C., Gschwantler-Kaulich, D., Pfeiler, G., tea, M-K., Lindor, N. M., Kaufman, B., Shimon Paluch, S., Laitman, Y., Skytte, A-B., Gerdes, A-M., Pedersen, I. S., Moeller, S. T., Kruse, T. A., Jensen, U. B., Vijai, J., Sarrel, K., Robson, M., Kauff, N., Mulligan, A. M., Glendon, G., Ozcelik, H., Ejlertsen, B., Nielsen, F. C., Jønson, L., Andersen, M. K., Ding, Y. C., Steele, L., Foretova, L., Teulé, A., Lazaro, C., Brunet, J., Pujana, M. A., Mai, P. L., Loud, J. T., Walsh, C., Lester, J., Orsulic, S., Narod, S. A., Herzog, J., Sand, S. R., Tognazzo, S., Agata, S., Vaszko, T., Weaver, J., Stavropoulou, A. V., Buys, S. S., Romero, A., de la Hoya, M., Aittomäki, K., Muranen, T. A., Duran, M., Chung, W. K., Lasa, A., Dorfling, C. M., Miron, A., Benitez, J., Senter, L., Huo, D., Chan, S. B., Sokolenko, A. P., Chiquette, J., Tihomirova, L., Friebel, T. M., Agnarsson, B. A., Lu, K. H., Lejbkowicz, F., James, P. A., Hall, P., Dunning, A. M., Tessier, D., Cunningham, J., Slager, S. L., Wang, C., Hart, S., Stevens, K., Simard, J., Pastinen, T., Pankratz, V. S., Offit, K., Easton, D. F., Chenevix-Trench, G. & Antoniou, A. C., 2013, In: PLoS genetics. 9, 3, p. e1003212 e1003212.

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220 Citations (Scopus)

Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16

Cordell, H. J., Bentham, J., Topf, A., Zelenika, D., Heath, S., Mamasoula, C., Cosgrove, C., Blue, G., Granados-Riveron, J., Setchfield, K., Thornborough, C., Breckpot, J., Soemedi, R., Martin, R., Rahman, T. J., Hall, D., Van Engelen, K., Moorman, A. F. M., Zwinderman, A. H., Barnett, P., & 21 othersKoopmann, T. T., Adriaens, M. E., Varro, A., George, A. L., Dos Remedios, C., Bishopric, N. H., Bezzina, C. R., O'Sullivan, J., Gewillig, M., Bu'Lock, F. A., Winlaw, D., Bhattacharya, S., Devriendt, K., Brook, J. D., Mulder, B. J. M., Mital, S., Postma, A. V., Lathrop, G. M., Farrall, M., Goodship, J. A. & Keavney, B. D., Jul 2013, In: Nature Genetics. 45, 7, p. 822-824 3 p.

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110 Citations (Scopus)

Genome-wide association study of obsessive-compulsive disorder

Stewart, S. E., Yu, D., Scharf, J. M., Neale, B. M., Fagerness, J. A., Mathews, C. A., Arnold, P. D., Evans, P. D., Gamazon, E. R., Davis, L. K., Osiecki, L., McGrath, L., Haddad, S., Crane, J., Hezel, D., Illmann, C., Mayerfeld, C., Konkashbaev, A. I., Liu, C., Pluzhnikov, A., & 109 othersTikhomirov, A., Edlund, C. K., Rauch, S. L., Moessner, R., Falkai, P., Maier, W., Ruhrmann, S., Grabe, H. J., Lennertz, L., Wagner, M., Bellodi, L., Cavallini, M. C., Richter, M. A., Cook, E. H., Kennedy, J. L., Rosenberg, D., Stein, D. J., Hemmings, S. M., Lochner, C., Azzam, A., Chavira, D. A., Fournier, E., Garrido, H., Sheppard, B., Umaña, P., Murphy, D. L., Wendland, J. R., Veenstra-Vanderweele, J., Denys, D., Blom, R., Deforce, D., van Nieuwerburgh, F., Westenberg, H. G., Walitza, S., Egberts, K., Renner, T., Miguel, E. C., Cappi, C., Hounie, A. G., Conceição do Rosário, M., Sampaio, A. S., Vallada, H., Nicolini, H., Lanzagorta, N., Camarena, B., Delorme, R., Leboyer, M., Pato, C. N., Pato, M. T., Voyiaziakis, E., Heutink, P., Cath, D. C., Posthuma, D., Smit, J. H., Samuels, J., Bienvenu, O. J., Cullen, B., Fyer, A. J., Grados, M. A., Greenberg, B. D., McCracken, J. T., Riddle, M. A., Wang, Y., Coric, V., Leckman, J. F., Bloch, M., Pittenger, C., Eapen, V., Black, D. W., Ophoff, R. A., Strengman, E., Cusi, D., Turiel, M., Frau, F., Macciardi, F., Gibbs, J. R., Cookson, M. R., Singleton, A., Hardy, J., Crenshaw, A. T., Parkin, M. A., Mirel, D. B., Conti, D. V., Purcell, S., Nestadt, G., Hanna, G. L., Jenike, M. A., Knowles, J. A., Cox, N., Pauls, D. L., Illman, C., Arepalli, S., Dillman, A., Ferrucci, L., Hernandez, D. G., Johnson, R., Longo, D. L., Nalls, M. A., O Brien, R., Traynor, B., Troncoso, J., van der Brug, M., Zielke, H. R., Zonderman, A., Ryten, M., Smith, C., Trabzuni, D., Walker, R. & Weale, M., 2013, In: Molecular psychiatry. 18, 7, p. 788-798

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248 Citations (Scopus)

Genome-wide association study of Tourette's syndrome

AUTHOR GROUP, Lee, P. C., Kremeyer, B., Berrio, G. B., Campbell, D. D., Cardona Silgado, J. C., Ochoa, W. C., Mesa Restrepo, S. C., Muller, H., Valencia Duarte, A. V., Lyon, G. J., Leppert, M., Morgan, J., Weiss, R., Grados, M. A., Anderson, K., Davarya, S., Singer, H., Walkup, J., Jankovic, J., & 29 othersTischfield, J. A., Heiman, G. A., Gilbert, D. L., Hoekstra, P. J., Robertson, M. M., Kurlan, R., Liu, C., Gibbs, J. R., Singleton, A., Hardy, J., Strengman, E., Ophoff, R. A., Wagner, M., Moessner, R., Mirel, D. B., Posthuma, D., Sabatti, C., Eskin, E., Conti, D. V., Knowles, J. A., Ruiz-Linares, A., Rouleau, G. A., Purcell, S., Heutink, P., Oostra, B. A., McMahon, W. M., Freimer, N. B., Cox, N. J. & Pauls, D. L., 2013, In: Molecular psychiatry. 18, 6, p. 721-728

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150 Citations (Scopus)

Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

AUTHOR GROUP, 2013, In: Nature Genetics. 45, 3, p. 314-318

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369 Citations (Scopus)

Genotype and phenotype of 101 dutch patients with congenital stationary night blindness

Bijveld, M. M. C., Florijn, R. J., Bergen, A. A. B., van den Born, L. I., Kamermans, M., Prick, L., Riemslag, F. C. C., van Schooneveld, M. J., Kappers, A. M. L. & van Genderen, M. M., 2013, In: Ophthalmology. 120, 10, p. 2072-2081

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85 Citations (Scopus)

Genotype by Environment Interactions in Cognitive Ability: A Survey of 14 Studies from Four Countries Covering Four Age Groups

Molenaar, D., van der Sluis, S., Boomsma, D. I., Haworth, C. M. A., Hewitt, J. K., Martin, N. G., Plomin, R., Wright, M. J. & Dolan, C. V., 2013, In: Behavior genetics. 43, 3, p. 208-219

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11 Citations (Scopus)

Germline Mutations in RASA1 Are Not Found in Patients with Klippel-Trenaunay Syndrome or Capillary Malformation with Limb Overgrowth

Revencu, N., Boon, L. M., Dompmartin, A., Rieu, P., Busch, W. L., Dubois, J., Forzano, F., van Hagen, J. M., Halbach, S., Kuechler, A., Lachmeijer, A. M. A., Lahde, J., Russell, L., Simola, K. O. J., Mulliken, J. B. & Vikkula, M., 2013, In: Molecular syndromology. 4, 4, p. 173-178

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34 Citations (Scopus)

Glucocorticoid-induced changes in gene expression of airway smooth muscle in patients with asthma

Yick, C. Y., Zwinderman, A. H., Kunst, P. W., Grünberg, K., Mauad, T., Fluiter, K., Bel, E. H., Lutter, R., Baas, F. & Sterk, P. J., 2013, In: American journal of respiratory and critical care medicine. 187, 10, p. 1076-1084

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56 Citations (Scopus)

Glutamate changes in healthy young adulthood

Marsman, A., Mandl, R. C. W., van den Heuvel, M. P., Boer, V. O., Wijnen, J. P., Klomp, D. W. J., Luijten, P. R. & Hilleke E., H. P., 1 Nov 2013, In: European neuropsychopharmacology. 23, 11, p. 1484-1490 7 p.

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Open Access

36 Citations (Scopus)

GWAS of 126559 Individuals Identifies Genetic Variants Associated with Educational Attainment

Rietveld, C. A., Medland, S. E., Derringer, J., Yang, J., Esko, T., Martin, N. W., Westra, H. J., Shakhbazov, K., Abdellaoui, A., Agrawal, A., Albrecht, E., Alizadeh, BZ., Amin, N., Barnard, J., Baumeister, S. E., Benke, K. S., Bielak, L. F., Boatman, J. A., Boyle, P. A., Davies, G., & 191 othersde Leeuw, C. A., Eklund, N., Evans, D. S., Fehrmann, R. S., Fischer, K., Gieger, C., Gjessing, H. K., Hägg, S., Harris, J. R., Hayward, C., Holzapfel, C., Ibrahim-Verbaas, C. A., Ingelsson, E., Jacobsson, B., Joshi, P. K., Jugessur, A., Kaakinen, M., Kanoni, S., Karjalainen, J., Kolcic, I., Kristiansson, K., Kutalik, Z., Lahti, J., Lee, S. H., Lin, P., Lind, P. A., Liu, Y., Lohman, K., Loitfelder, M., McMahon, G., Vidal, P. M., Meirelles, O., Milani, L., Myhre, R., Nuotio, M. L., Oldmeadow, C. J., Petrovic, K. E., Peyrot, W. J., Polasek, O., Quaye, L., Reinmaa, E., Rice, J. P., Rizzi, T. S., Schmidt, H., Schmidt, R., Smith, A. V., Smith, J. A., Tanaka, T., Terracciano, A., van der Loos, M. J., Vitart, V., Völzke, H., Wellmann, J., Yu, L., Zhao, W., Allik, J., Attia, J. R., Bandinelli, S., Bastardot, F., Beauchamp, J., Bennett, D. A., Berger, K., Bierut, L. J., Boomsma, D. I., Bültmann, U., Campbell, H., Chabris, C. F., Cherkas, L., Chung, M. K., Cucca, F., de Andrade, M., Jager, P. L., de Neve, J. E., Deary, I. J., Dedoussis, G. V., Deloukas, P., Dimitriou, M., Eiriksdottir, G., Elderson, M. F., Eriksson, J. G., Evans, D. M., Faul, J. D., Ferrucci, L., Garcia, M. E., Grönberg, H., Gudnason, V., Hall, P., Harris, J. M., Harris, T. B., Hastie, N. D., Heath, A. C., Hernandez, D. G., Hoffmann, W., Hofman, A., Holle, R., Holliday, E. G., Hottenga, J. J., Iacono, W. G., Illig, T., Järvelin, M. R., Kähönen, M., Kaprio, J., Kirkpatrick, R. M., Kowgier, M., Latvala, A., Launer, L. J., Lawlor, D. A., Lehtimäki, T., Li, J., Lichtenstein, P., Lichtner, P., Liewald, D. C., Madden, P. A. F., Magnusson, P. K. E., Mäkinen, T. E., Masala, M., McGue, M., Metspalu, A., Mielck, A., Miller, M. B., Montgomery, G. W., Mukherjee, S., Nyholt, DR., Oostra, B. A., Palmer, L. J., Palotie, A., Penninx, B. W. J. H., Perola, M., Peyser, P. A., Preisig, M., Räikkönen, K., Raitakari, O. T., Realo, A., Ring, S. M., Ripatti, S., Rivadeneira, F., Rudan, I., Rustichini, A., Salomaa, V., Sarin, A. P., Schlessinger, D., Scott, R. J., Snieder, H., St Pourcain, B., Starr, J. M., Sul, J. H., Surakka, I., Svento, R., Teumer, A., Tiemeier, H., van Rooij, F. J., Wagoner, D. R., Vartiainen, E., Viikari, J., Vollenweider, P., Vonk, J. M., Waeber, G., Weir, D. R., Wichmann, H. E., Widen, E., Willemsen, G., Wilson, J. F., Wright, A. F., Conley, D., Davey Smith, G., Franke, L., Groenen, P. J. F., Johannesson, M., Kardia, S., Krueger, R. F., Laibson, D., Martin, N. G., Meyer, M. N., Posthuma, D., Thurik, A. R., Timpson, N. J., Uitterlinden, A. G., van Duijn, C. M., Visscher, P. M., Benjamin, D. J., Cesarini, D., Koellinger, P. D., Bamard, J., Polašek, O., Welllmann, J., Guðnason, V., Kirkpatrick, P. M., Krueger, J. F., Alizadeh, B. Z., Ferhmann, R. & Guonason, V., 2013, In: Science. 340, 6139, p. 1467-1471

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574 Citations (Scopus)

Health care providers' perspective on using family history in the prevention of type 2 diabetes: a qualitative study including different disciplines

van Esch, S. C. M., Heideman, W. H., Cleijne, W., Cornel, M. C. & Snoek, F. J., 2013, In: BMC Family Practice. 14, p. 31 31.

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14 Citations (Scopus)

Het Bloom-syndroom in Nederland

Hopman, S. M. J., Merks, J. H. M., Bijlsma, E. K., Boot, H., Knegt, A. C., Langenhorst, V., Schoenaker, M. H. D., Stuurman, K. E., Verheij, J. B. G. M., Wagner, A., Weesmaes, C. M., Zwijnenburg, P. J. G., Michiels, E. & Kluijt, I., 2013, In: Tijdschrift voor kindergeneeskunde. 81, 6, p. 148-158

Research output: Contribution to journal › Article › Professional

Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome

Gordon, C. T., Vuillot, A., Marlin, S., Gerkes, E., Henderson, A., AlKindy, A., Holder-Espinasse, M., Park, S. S., Omarjee, A., Sanchis-Borja, M., Ben Bdira, E., Oufadem, M., Sikkema-Raddatz, B., Stewart, A., Palmer, R., McGowan, R., Petit, F., Delobel, B., Speicher, M. R., Aurora, P., & 28 othersKilner, D., Pellerin, P., Simon, M., Bonnefont, J. P., Tobias, E. S., Garcia-Minaur, S., Bitner-Glindzicz, M., Lindholm, P., Meijer, B. A., Abadie, V., Denoyelle, F., Vazquez, M. P., Rotky-Fast, C., Couloigner, V., Pierrot, S., Manach, Y., Breton, S., Hendriks, Y. M. C., Munnich, A., Jakobsen, L., Kroisel, P., Lin, A., Kaban, L. B., Basel-Vanagaite, L., Wilson, L., Cunningham, M. L., Lyonnet, S. & Amiel, J., 2013, In: Journal of medical genetics. 50, 3, p. 174-186

Research output: Contribution to journal › Article › Academic › peer-review

42 Citations (Scopus)