Human Genetics (AMC)

Research output

Research output per year 1988 2010 2011 2012 2013 2014 2015 2016 2017 2018 2019 2020 2021 2022 2023 2024

• 1696 Article
• 95 Review article
• 79 Comment/Letter to the editor
• 29 Chapter
• 73 More
  • 28 Phd-Thesis - Research and graduation internal
  • 19 Editorial
  • 7 Erratum/Corrigendum
  • 7 Letter
  • 4 Other contribution
  • 3 Book editing
  • 2 Poster
  • 1 Conference contribution
  • 1 Meeting Abstract
  • 1 Preprint

Research output per year

Research output per year

Search results

• 2017

  An E-Learning Module to Improve Nongenetic Health Professionals' Assessment of Colorectal Cancer Genetic Risk: Feasibility Study

  Douma, K. F. L., Aalfs, C. M., Dekker, E., Tanis, P. J. & Smets, E. M., 18 Dec 2017, In: JMIR medical education. 3, 2, p. e24 e24.

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

  Open Access
  5 Citations (Scopus)

• An epigenome-wide association study in whole blood of measures of adiposity among Ghanaians: the RODAM study

  Meeks, K. A. C., Henneman, P., Venema, A., Burr, T., Galbete, C., Danquah, I., Schulze, M. B., Mockenhaupt, F. P., Owusu-Dabo, E., Rotimi, C. N., Addo, J., Smeeth, L., Bahendeka, S., Spranger, J., Mannens, M. M. A. M., Zafarmand, M. H., Agyemang, C. & Adeyemo, A., 2017, In: Clinical epigenetics. 9, p. 103

  Research output: Contribution to journal › Article › Academic › peer-review
  47 Citations (Scopus)

• A novel CCM2 variant in a family with non-progressive cognitive complaints and cerebral microbleeds

  Cohn-Hokke, P. E., Holstege, H., Weiss, M. M., van der Flier, W. M., Barkhof, F., Sistermans, E. A., Pijnenburg, Y. A. L., van Swieten, J. C., Meijers-Heijboer, H. & Scheltens, P., 1 Apr 2017, In: American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics. 174, 3, p. 220-226 7 p.

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

  Open Access
  5 Citations (Scopus)

• Association analysis identifies 65 new breast cancer risk loci

  NBCS Collaborators, ABCTB Investigators, kConFab/AOCS Investigators, Bogdanova, N. V., Bojesen, S. E., Bonanni, B., Børresen-Dale, A-L., Brand, J. S., Brauch, H., Brennan, P., Brenner, H., Brinton, L., Broberg, P., Brock, I. W., Broeks, A., Brooks-Wilson, A., Brucker, S. Y., Brüning, T., Burwinkel, B., Butterbach, K., & 292 othersCai, Q., Cai, H., Caldés, T., Canzian, F., Carracedo, A., Carter, B. D., Castelao, J. E., Chan, T. L., David Cheng, T-Y., Seng Chia, K., Choi, J-Y., Christiansen, H., Clarke, C. L., Collée, M., Conroy, D. M., Cordina-Duverger, E., Cornelissen, S., Cox, D. G., Cox, A., Cross, S. S., Cunningham, J. M., Czene, K., Daly, M. B., Devilee, P., Doheny, K. F., Dörk, T., Dos-Santos-Silva, I., Dumont, M., Durcan, L., Dwek, M., Eccles, D. M., Ekici, A. B., Eliassen, A. H., Ellberg, C., Elvira, M., Engel, C., Eriksson, M., Fasching, P. A., Figueroa, J., Flesch-Janys, D., Fletcher, O., Flyger, H., Fritschi, L., Gaborieau, V., Gabrielson, M., Gago-Dominguez, M., Gao, Y-T., Gapstur, S. M., García-Sáenz, J. A., Gaudet, M. M., Georgoulias, V., Giles, G. G., Glendon, G., Goldberg, M. S., Goldgar, D. E., González-Neira, A., Grenaker Alnæs, G. I., Grip, M., Gronwald, J., Grundy, A., Guénel, P., Haeberle, L., Hahnen, E., Haiman, C. A., Håkansson, N., Hamann, U., Hamel, N., Hankinson, S., Harrington, P., Hart, S. N., Hartikainen, J. M., Hartman, M., Hein, A., Heyworth, J., Hicks, B., Hillemanns, P., Ho, D. N., Hollestelle, A., Hoover, R. N., Hopper, J. L., Hou, M-F., Hsiung, C-N., Huang, G., Humphreys, K., Ishiguro, J., Ito, H., Iwasaki, M., Iwata, H., Jakubowska, A., Janni, W., John, E. M., Johnson, N., Jones, K., Jones, M., Jukkola-Vuorinen, A., Kaaks, R., Kabisch, M., Kaczmarek, K., Kang, D., Kasuga, Y., Kerin, M. J., Khan, S., Khusnutdinova, E., Kiiski, J. I., Kim, S-W., Knight, J. A., Kosma, V-M., Kristensen, V. N., Krüger, U., Kwong, A., Lambrechts, D., Le Marchand, L., Lee, E., Lee, M. H., Lee, J. W., Neng Lee, C., Lejbkowicz, F., Li, J., Lilyquist, J., Lindblom, A., Lissowska, J., Lo, W-Y., Loibl, S., Long, J., Lophatananon, A., Lubinski, J., Luccarini, C., Lux, M. P., Ma, E. S. K., MacInnis, R. J., Maishman, T., Makalic, E., Malone, K. E., Kostovska, I. M., Mannermaa, A., Manoukian, S., Manson, J. E., Margolin, S., Mariapun, S., Martinez, M. E., Matsuo, K., Mavroudis, D., McKay, J., McLean, C., Meindl, A., Menéndez, P., Menon, U., Meyer, J., Miao, H., Miller, N., Taib, N. A. M., Muir, K., Mulligan, A. M., Mulot, C., Neuhausen, S. L., Nevanlinna, H., Neven, P., Nielsen, S. F., Noh, D-Y., Nordestgaard, B. G., Norman, A., Olopade, O. I., Olson, J. E., Olsson, H., Olswold, C., Orr, N., Pankratz, V. S., Park, S. K., Park-Simon, T-W., Lloyd, R., Perez, J. I. A., Peterlongo, P., Peto, J., Phillips, K-A., Pinchev, M., Plaseska-Karanfilska, D., Prentice, R., Presneau, N., Prokofyeva, D., Pugh, E., Pylkäs, K., Rack, B., Radice, P., Rahman, N., Rennert, G., Rennert, H. S., Rhenius, V., Romero, A., Romm, J., Ruddy, K. J., Rüdiger, T., Rudolph, A., Ruebner, M., Rutgers, E. J. T., Saloustros, E., Sandler, D. P., Sangrajrang, S., Sawyer, E. J., Schmidt, D. F., Schmutzler, R. K., Schneeweiss, A., Schoemaker, M. J., Schumacher, F., Schürmann, P., Scott, R. J., Scott, C., Seal, S., Seynaeve, C., Shah, M., Sharma, P., Shen, C-Y., Sheng, G., Sherman, M. E., Shrubsole, M. J., Shu, X-O., Smeets, A., Sohn, C., Southey, M. C., Spinelli, J. J., Stegmaier, C., Stewart-Brown, S., Stone, J., Stram, D. O., Surowy, H., Swerdlow, A., Tamimi, R., Taylor, J. A., Tengström, M., teo, S. H., Beth Terry, M., Tessier, D. C., Thanasitthichai, S., Thöne, K., Tollenaar, R. A. E. M., Tomlinson, I., Tong, L., Torres, D., Truong, T., Tseng, C-C., Tsugane, S., Ulmer, H-U., Ursin, G., Untch, M., Vachon, C., van Asperen, C. J., van den Berg, D., van den Ouweland, A. M. W., van der Kolk, L., van der Luijt, R. B., Vincent, D., Vollenweider, J., Wang-Gohrke, S., Weinberg, C. R., Wendt, C., Whittemore, A. S., Wildiers, H., Willett, W., Winqvist, R., Wolk, A., Wu, A. H., Xia, L., Yamaji, T., Yang, X. R., Har Yip, C., Yoo, K-Y., Yu, J-C., Zheng, W., Zheng, Y., Zhu, B., Ziogas, A., Ziv, E., Lakhani, S. R., Antoniou, A. C., Droit, A., Andrulis, I. L., Amos, C. I., Couch, F. J., Pharoah, P. D. P., Chang-Claude, J., Hall, P., Hunter, D. J., Milne, R. L., García-Closas, M., Schmidt, M. K., Chanock, S. J., Dunning, A. M., Edwards, S. L., Bader, G. D., Chenevix-Trench, G., Simard, J., Kraft, P. & Easton, D. F., 2 Nov 2017, In: NATURE. 551, 7678, p. 92-94 3 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  852 Citations (Scopus)

• Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3

  EMBRACE, GEMO Study Collaborators, HEBON, KConFab Investigators, Foretova, L., Fostira, F., Foulkes, W. D., Fountzilas, G., Friedman, E., Frost, D., Ganschow, P., Ganz, P. A., Garber, J., Gayther, S. A., Gerdes, A-M., Glendon, G., Godwin, A. K., Goldgar, D. E., Greene, M. H., Gronwald, J., & 102 othersHahnen, E., Hamann, U., Hansen, T. V. O., Hart, S., Hays, J. L., Hogervorst, F. B. L., Hulick, P. J., Imyanitov, E. N., Isaacs, C., Izatt, L., Jakubowska, A., James, P., Janavicius, R., Jensen, U. B., John, E. M., Joseph, V., Just, W., Kaczmarek, K., Karlan, B. Y., Kets, C. M., Kirk, J., Kriege, M., Laitman, Y., Laurent, M., Lazaro, C., Leslie, G., Lester, J., Lesueur, F., Liljegren, A., Loman, N., Loud, J. T., Manoukian, S., Mariani, M., Mazoyer, S., McGuffog, L., Meindl, A., Miller, A., Montagna, M., Mulligan, A. M., Nathanson, K. L., Neuhausen, S. L., Nevanlinna, H., Nussbaum, R. L., Olah, E., Olopade, O. I., Ong, K-R., Osorio, A., Papi, L., Park, S. K., Pedersen, I. S., Peissel, B., Segura, P. P., Peterlongo, P., Phelan, C. M., Radice, P., Rantala, J., Rappaport-Fuerhauser, C., Rennert, G., Richardson, A., Robson, M., Rodriguez, G. C., Rookus, M. A., Schmutzler, R. K., Sevenet, N., Shah, P. D., Singer, C. F., Slavin, T. P., Snape, K., Sokolowska, J., Sønderstrup, I. M. H., Southey, M., Spurdle, A. B., Stadler, Z., Stoppa-Lyonnet, D., Sukiennicki, G., Sutter, C., Tan, Y., tea, M-K., Teixeira, M. R., Teulé, A., teo, S-H., Terry, M. B., Thomassen, M., Tihomirova, L., Tischkowitz, M., Tognazzo, S., Toland, A. E., Tung, N., van den Ouweland, A. M. W., van der Luijt, R. B., van Rensburg, E. J., Varon-Mateeva, R., Wappenschmidt, B., Wijnen, J. T., Rebbeck, T., Chenevix-Trench, G., Offit, K., Couch, F. J., Nord, S., Easton, D. F., Antoniou, A. C. & Simard, J., 1 Jan 2017, In: Breast cancer research and treatment. 161, 1, p. 117-134 18 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  19 Citations (Scopus)

• Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations

  Soblet, J., Kangas, J., Nätynki, M., Mendola, A., Helaers, R., Uebelhoer, M., Kaakinen, M., Cordisco, M., Dompmartin, A., Enjolras, O., Holden, S., Irvine, A. D., Kangesu, L., Léauté-Labrèze, C., Lanoel, A., Lokmic, Z., Maas, S., McAleer, M. A., Penington, A., Rieu, P., & 9 othersSyed, S., van der Vleuten, C., Watson, R., Fishman, S. J., Mulliken, J. B., Eklund, L., Limaye, N., Boon, L. M. & Vikkula, M., 2017, In: Journal of Investigative Dermatology. 137, 1, p. 207-216

  Research output: Contribution to journal › Article › Academic › peer-review
  143 Citations (Scopus)

• Cascade screening for familial hypercholesterolemia: Practical consequences

  Louter, L., Defesche, J. & Roeters van Lennep, J., 2017, In: Atherosclerosis. Supplements. 30, p. 77-85

  Research output: Contribution to journal › Article › Academic › peer-review
  57 Citations (Scopus)

• CD103+ tumor-infiltrating lymphocytes are tumor-reactive intraepithelial CD8+ T cells associated with prognostic benefit and therapy response in cervical cancer

  Komdeur, F. L., Prins, T. M., van de Wall, S., Plat, A., Wisman, G. B. A., Hollema, H., Daemen, T., Church, D. N., de Bruyn, M. & Nijman, H. W., 2017, In: Oncoimmunology. 6, 9, p. e1338230

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

• Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

  AUTHOR GROUP, 2017, In: Molecular psychiatry. 22, 6, p. 836-849

  Research output: Contribution to journal › Article › Academic › peer-review
  60 Citations (Scopus)

• Chronological age prediction based on DNA methylation: Massive parallel sequencing and random forest regression

  Naue, J., Hoefsloot, H. C. J., Mook, O. R. F., Rijlaarsdam-Hoekstra, L., van der Zwalm, M. C. H., Henneman, P., Kloosterman, A. D. & Verschure, P. J., 2017, In: Forensic science international. Genetics. 31, p. 19-28

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

  Open Access
  119 Citations (Scopus)

• Clinical and molecular findings in a Moroccan family with Jervell and Lange-Nielsen syndrome: a case report

  Adadi, N., Lahrouchi, N., Bouhouch, R., Fellat, I., Amri, R., Alders, M., Sefiani, A., Bezzina, C. & Ratbi, I., 2017, In: Journal of Medical Case Reports. 11, 1, 88.

  Research output: Contribution to journal › Article › Academic › peer-review
  4 Citations (Scopus)

• Colorectal Cancer Risk in Patients With Lynch Syndrome and Inflammatory Bowel Disease

  Derikx, L. A. A. P., Smits, L. J. T., van Vliet, S., Dekker, E., Aalfs, C. M., van Kouwen, M. C. A., Nagengast, F. M., Nagtegaal, I. D., Hoogerbrugge, N. & Hoentjen, F., 2017, In: Clinical Gastroenterology and Hepatology. 15, 3, p. 454-458.e1

  Research output: Contribution to journal › Article › Academic › peer-review
  17 Citations (Scopus)

• Comparative gene expression study and pathway analysis of the human iris- and the retinal pigment epithelium

  Bennis, A., Ten Brink, J. B., Moerland, P. D., Heine, V. M. & Bergen, A. A., 1 Aug 2017, In: PLOS ONE. 12, 8, p. e0182983 e0182983.

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

  Open Access
  10 Citations (Scopus)

• Comparing methods for fetal fraction determination and quality control of NIPT samples

  van Beek, D. M., Straver, R., Weiss, M. M., Boon, E. M. J., Huijsdens-van Amsterdam, K., Oudejans, C. B. M., Reinders, M. J. T. & Sistermans, E. A., 1 Aug 2017, In: Prenatal diagnosis. 37, 8, p. 769-773 5 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  40 Citations (Scopus)

• Development of Refractive Errors—What Can We Learn From Inherited Retinal Dystrophies?

  RD5000 Consortium & AUTHOR GROUP, 1 Oct 2017, In: American Journal of Ophthalmology. 182, p. 81-89 9 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  54 Citations (Scopus)

• Diagnosis and management of Silver-Russell syndrome: first international consensus statement

  Wakeling, E. L., Brioude, F., Lokulo-Sodipe, O., O'Connell, S. M., Salem, J., Bliek, J., Canton, A. P. M., Chrzanowska, K. H., Davies, J. H., Dias, R. P., Dubern, B., Elbracht, M., Giabicani, E., Grimberg, A., Grønskov, K., Hokken-Koelega, A. C. S., Jorge, A. A., Kagami, M., Linglart, A., Maghnie, M., & 16 othersMohnike, K., Monk, D., Moore, G. E., Murray, P. G., Ogata, T., Petit, I. O., Russo, S., Said, E., Toumba, M., Tümer, Z., Binder, G., Eggermann, T., Harbison, M. D., Temple, I. K., Mackay, D. J. G. & Netchine, I., 2017, In: Nature reviews. Endocrinology. 13, 2, p. 105-124

  Research output: Contribution to journal › Article › Academic › peer-review
  323 Citations (Scopus)

• Diagnostic exome sequencing in 266 Dutch patients with visual impairment

  Haer-Wigman, L., van Zelst-Stams, W. A., Pfundt, R., van den Born, L. I., Klaver, C. C., Verheij, J. B., Hoyng, C. B., Breuning, M. H., Boon, C. J., Kievit, A. J., Verhoeven, V. J., Pott, J. W., Sallevelt, S. C., van Hagen, J. M., Plomp, A. S., Kroes, H. Y., Lelieveld, S. H., Hehir-Kwa, J. Y., Castelein, S., Nelen, M., & 5 othersScheffer, H., Lugtenberg, D., Cremers, F. P., Hoefsloot, L. & Yntema, H. G., 1 May 2017, In: European journal of human genetics. 25, 5, p. 591-599 9 p.

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

  Open Access
  100 Citations (Scopus)

• Dihydropyrimidine Dehydrogenase Deficiency: Metabolic Disease or Biochemical Phenotype?

  Fleger, M., Willomitzer, J., Meinsma, R., Alders, M., Meijer, J., Hennekam, R. C. M., Huemer, M. & van Kuilenburg, A. B. P., 2017, In: JIMD reports. 37, p. 49-54

  Research output: Contribution to journal › Article › Academic › peer-review
  7 Citations (Scopus)

• DNA-diagnostiek bij dementie

  Translated title of the contribution: DNA diagnostics in dementiaAalfs, C. M., Vervenne-van Spaendonk, R., Pijnenburg, Y. A. L., Cohn-Hokke, P. E., Meijers, H. J. & Scheltens, P., 2017, In: Nederlands Tijdschrift voor Geneeskunde. 161, 38-39, p. D1774 d1774.

  Research output: Contribution to journal › Article › Professional

• Effect of Age and Sex on the QTc Interval in Children and Adolescents With Type 1 and 2 Long-QT Syndrome

  Vink, A. S., Clur, S-A. B., Geskus, R. B., Blank, A. C., de Kezel, C. C. A., Yoshinaga, M., Hofman, N., Wilde, A. A. M. & Blom, N. A., 2017, In: Circulation. Arrhythmia and electrophysiology. 10, 4, e004645.

  Research output: Contribution to journal › Article › Academic › peer-review
  22 Citations (Scopus)

• Efficacy of alirocumab in 1191 patients with a wide spectrum of mutations in genes causative for familial hypercholesterolemia

  Defesche, J. C., Stefanutti, C., Langslet, G., Hopkins, P. N., Seiz, W., Baccara-Dinet, M. T., Hamon, S. C., Banerjee, P. & Kastelein, J. J. P., 2017, In: Journal of clinical lipidology. 11, 6, p. 1338-1346

  Research output: Contribution to journal › Article › Academic › peer-review
  36 Citations (Scopus)

• Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders

  Sollis, E., Deriziotis, P., Saitsu, H., Miyake, N., Matsumoto, N., Hoffer, M. J. V., Ruivenkamp, C. A. L., Alders, M., Okamoto, N., Bijlsma, E. K., Plomp, A. S. & Fisher, S. E., 2017, In: Human mutation. 38, 11, p. 1542-1554

  Research output: Contribution to journal › Article › Academic › peer-review
  25 Citations (Scopus)

• Estimates of live birth prevalence of children with Down syndrome in the period 1991-2015 in the Netherlands

  de Graaf, G., Engelen, J. J. M., Gijsbers, A. C. J., Hochstenbach, R., Hoffer, M. J. V., Sikkema-Raddatz, B., Srebniak, M. I., van der Kevie-Kersemaekers, A. M. F., van Zutven, L. J. C. M., Voorhoeve, E. & Kooper, A. J. A., 1 May 2017, In: Journal of intellectual disability research. 61, 5, p. 461-470 10 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  21 Citations (Scopus)

• Exome sequencing identifies primary carnitine deficiency in a family with cardiomyopathy and sudden death

  Lahrouchi, N., Lodder, E. M., Mansouri, M., Tadros, R., Zniber, L., Adadi, N., Clur, S-A. B., van Spaendonck-Zwarts, K. Y., Postma, A. V., Sefiani, A., Ratbi, I. & Bezzina, C. R., 2017, In: European journal of human genetics. 25, 6, p. 783-787

  Research output: Contribution to journal › Article › Academic › peer-review
  18 Citations (Scopus)

• Expertise van klinisch geneticus beter benutten

  Translated title of the contribution: Making better use of the clinical geneticist's expertise; treating physician could request a DNA test for most cancer patientsAalfs, C. M., Westermann, A. M. & van El, C. G., 2017, In: Nederlands Tijdschrift voor Geneeskunde. 161, 0, p. D1525

  Research output: Contribution to journal › Article › Professional

  2 Citations (Scopus)

• Exploring the potential duty of care in clinical genomics under UK law

  Mitchell, C., Ploem, C., Chico, V., Ormondroyd, E., Hall, A., Wallace, S., Fay, M., Goodwin, D., Bell, J., Philips, S., Taylor, J. C., Hennekam, R. & Kaye, J., 2017, In: Medical Law International. 17, 3, p. 158-182 25 p.

  Research output: Contribution to journal › Article › Academic

  Open Access
  14 Citations (Scopus)

• Factors associated with cancer worries in individuals participating in annual pancreatic cancer surveillance

  Konings, I. C. A. W., Kuenen, M. A., Sidharta, G. N., Kieffer, J. M., Aalfs, C. M., Poley, J-W., Smets, E. M. A., Wagner, A., van Rens, A., Vleggaar, F. P., Ausems, M. G. E. M., Fockens, P., van Hooft, J. E., Bruno, M. J. & Bleiker, E. M. A., 2017, In: Familial Cancer. 16, 1, p. 143-151

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

  Open Access
  24 Citations (Scopus)

• Factors for successful implementation of population-based expanded carrier screening: learning from existing initiatives: Learning from existing initiatives

  Holtkamp, K. C. A., Mathijssen, I. B., Lakeman, P., van Maarle, M. C., Dondorp, W. J., Henneman, L. & Cornel, M. C., 1 Apr 2017, In: European journal of public health. 27, 2, p. 372-377 6 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  33 Citations (Scopus)

• Familial Disease Is Not Always Genetic: A Family With Atrioventricular Block and Mitral Regurgitation

  Vermeer, A. M., Lodder, E. M., Christiaans, I., van Langen, I. M., Wilde, A. A., Bezzina, C. R. & Tadros, R., 2017, In: Canadian Journal of Cardiology. 33, 4, p. 554.e9-554.e11

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

• Familial hypercholesterolaemia

  Defesche, J. C., Gidding, S. S., Harada-Shiba, M., Hegele, R. A., Santos, R. D. & Wierzbicki, A. S., 2017, In: Nature reviews. Disease primers. 3, p. 17093

  Research output: Contribution to journal › Article › Academic › peer-review
  298 Citations (Scopus)

• Family-specific aggregation of lipid GWAS variants confers the susceptibility to familial hypercholesterolemia in a large Austrian family

  Nikkola, E., Ko, A., Alvarez, M., Cantor, R. M., Garske, K., Kim, E., Gee, S., Rodriguez, A., Muxel, R., Matikainen, N., Söderlund, S., Motazacker, M. M., Borén, J., Lamina, C., Kronenberg, F., Schneider, W. J., Palotie, A., Laakso, M., Taskinen, M-R. & Pajukanta, P., 2017, In: Atherosclerosis. 264, p. 58-66

  Research output: Contribution to journal › Article › Academic › peer-review
  7 Citations (Scopus)

• Gain-of-function mutation in SCN5A causes ventricular arrhythmias and early onset atrial fibrillation

  Lieve, K. V., Verkerk, A. O., Podliesna, S., van der Werf, C., Tanck, M. W., Hofman, N., van Bergen, P. F., Beekman, L., Bezzina, C. R., Wilde, A. A. M. & Lodder, E. M., 2017, In: International journal of cardiology. 236, p. 187-193

  Research output: Contribution to journal › Article › Academic › peer-review
  29 Citations (Scopus)

• Generation and characterization of a human iPSC line SANi005-A containing the gray platelet associated heterozygous mutation p.Q287*in GFI1B

  Hansen, M., Varga, E., Wüst, T., Mellink, C., van der Kevie-Kersemaekers, A-M., Marneth, A. E., von Lindern, M., van der Reijden, B. & van den Akker, E., 2017, In: Stem Cell Research. 25, p. 34-37

  Research output: Contribution to journal › Article › Academic › peer-review
  3 Citations (Scopus)

• Generation and characterization of human iPSC line MML-6838-Cl2 from mobilized peripheral blood derived megakaryoblasts

  Hansen, M., Varga, E., Wüst, T., Brouwer, N., Beauchemin, H., Mellink, C., van der Kevie-Kersemaekers, A-M., Möröy, T., van der Reijden, B., von Lindern, M. & van den Akker, E., 2017, In: Stem Cell Research. 18, p. 26-28

  Research output: Contribution to journal › Article › Academic › peer-review
  9 Citations (Scopus)

• Generation and characterization of human iPSC lines SANi001-A and SANi002-A from mobilized peripheral blood derived megakaryoblasts

  Hansen, M., Varga, E., Wüst, T., Mellink, C., van der Kevie-Kersemaekers, A-M., von Lindern, M. & van den Akker, E., 2017, In: Stem Cell Research. 25, p. 42-45

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

• Genome-wide association meta-analysis of 78,308 individuals identifies new loci and genes influencing human intelligence

  Sniekers, S., Stringer, S., Watanabe, K., Jansen, P. R., Coleman, J. R. I., Krapohl, E., Taskesen, E., Hammerschlag, A. R., Okbay, A., Zabaneh, D., Amin, N., Breen, G., Cesarini, D., Chabris, C. F., Iacono, W. G., Ikram, M. A., Johannesson, M., Koellinger, P., Lee, J. J., Magnusson, P. K. E., & 10 othersMcGue, M., Miller, M. B., Ollier, W. E. R., Payton, A., Pendleton, N., Plomin, R., Rietveld, C. A., Tiemeier, H., van Duijn, C. M. & Posthuma, D., 1 Jul 2017, In: Nature Genetics. 49, 7, p. 1107-1112 6 p.

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

  Open Access
  285 Citations (Scopus)

• Genome-Wide Association Studies of a Broad Spectrum of Antisocial Behavior

  Broad Antisocial Behavior Consortium collaborators, 1 Dec 2017, In: JAMA Psychiatry. 74, 12, p. 1242-1250 9 p.

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

  Open Access
  117 Citations (Scopus)

• Genotype-phenotype dilemma in a case of sudden cardiac death with the E1053K mutation and a deletion in the SCN5A gene

  Jenewein, T., Beckmann, B. M., Rose, S., Osterhues, H. H., Schmidt, U., Wolpert, C., Miny, P., Marschall, C., Alders, M., Bezzina, C. R., Wilde, A. A. M., Kääb, S. & Kauferstein, S., 2017, In: Forensic Science International. 275, p. 187-194

  Research output: Contribution to journal › Article › Academic › peer-review
  12 Citations (Scopus)

• Genotypic and Phenotypic Characteristics of CRB1-Associated Retinal Dystrophies: A Long-Term Follow-up Study

  Talib, M., van Schooneveld, M. J., van Genderen, M. M., Wijnholds, J., Florijn, R. J., ten Brink, J. B., Schalij-Delfos, N. E., Dagnelie, G., Cremers, F. P. M., Wolterbeek, R., Fiocco, M., Thiadens, A. A., Hoyng, C. B., Klaver, C. C., Bergen, A. A. & Boon, C. J. F., 2017, In: Ophthalmology. 124, 6, p. 884-895

  Research output: Contribution to journal › Article › Academic › peer-review
  70 Citations (Scopus)

• Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases

  Novara, F., Rinaldi, B., Sisodiya, S. M., Coppola, A., Giglio, S., Stanzial, F., Benedicenti, F., Donaldson, A., Andrieux, J., Stapleton, R., Weber, A., Reho, P., van Ravenswaaij-Arts, C., Kerstjens-Frederikse, W. S., Vermeesch, J. R., Devriendt, K., Bacino, C. A., Delahaye, A., maas, S. M., Iolascon, A., & 1 othersZuffardi, O., 2017, In: European journal of human genetics. 25, 6, p. 694-701

  Research output: Contribution to journal › Article › Academic › peer-review
  29 Citations (Scopus)

• Humoral Immunodeficiency with Hypotonia, Feeding Difficulties, enteropathy, and Mild eczema Caused by a Classical FOXP3 Mutation

  Tuijnenburg, P., Cuadrado, E., Bosch, A. M., Kindermann, A., Jansen, M. H., Alders, M., van Leeuwen, E. M. M. & Kuijpers, T. W., 2017, In: Frontiers in pediatrics. 5, p. 37

  Research output: Contribution to journal › Article › Academic › peer-review
  7 Citations (Scopus)

• Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

  HEBON Study, AOCS study group, EMBRACE Study, OPAL study group, KConFab Investigators, GEMO Study Collaborators, Blok, M. J., Bodelon, C., Bogdanova, N., Bojesen, A., Bonanni, B., Borg, Å., Bradbury, A. R., Brenton, J. D., Brewer, C., Brinton, L., Broberg, P., Brooks-Wilson, A., Bruinsma, F., Brunet, J., & 350 othersBuecher, B., Butzow, R., Buys, S. S., Caldes, T., Caligo, M. A., Campbell, I., Cannioto, R., Carney, M. E., Cescon, T., Chan, S. B., Chang-Claude, J., Chanock, S., Chen, X. Q., Chiew, Y-E., Chiquette, J., Chung, W. K., Claes, K. B. M., Conner, T., Cook, L. S., Cook, J., Cramer, D. W., Cunningham, J. M., D'Aloisio, A. A., Daly, M. B., Damiola, F., Damirovna, S. D., Dansonka-Mieszkowska, A., Dao, F., Davidson, R., Defazio, A., Delnatte, C., Doheny, K. F., Diez, O., Ding, Y. C., Doherty, J. A., Domchek, S. M., Dorfling, C. M., Dörk, T., Dossus, L., Duran, M., Dürst, M., Dworniczak, B., Eccles, D., Edwards, T., Eeles, R., Eilber, U., Ejlertsen, B., Ekici, A. B., Ellis, S., Elvira, M., Eng, K. H., Engel, C., Evans, D. G., Fasching, P. A., Ferguson, S., Ferrer, S. F., Flanagan, J. M., Fogarty, Z. C., Fortner, R. T., Fostira, F., Foulkes, W. D., Fountzilas, G., Fridley, B. L., Friebel, T. M., Friedman, E., Frost, D., Ganz, P. A., Garber, J., García, M. J., Garcia-Barberan, V., Gehrig, A., Gentry-Maharaj, A., Gerdes, A-M., Giles, G. G., Glasspool, R., Glendon, G., Godwin, A. K., Goldgar, D. E., Goranova, T., Gore, M., Greene, M. H., Gronwald, J., Gruber, S., Hahnen, E., Haiman, C. A., Håkansson, N., Hamann, U., Hansen, T. V. O., Harrington, P. A., Harris, H. R., Hauke, J., Hein, A., Henderson, A., Hildebrandt, M. A. T., Hillemanns, P., Hodgson, S., Høgdall, C. K., Høgdall, E., Hogervorst, F. B. L., Holland, H., Hosking, K., Huang, R-Y., Hulick, P. J., Hung, J., Hunter, D. J., Huntsman, D. G., Huzarski, T., Imyanitov, E. N., Isaacs, C., Iversen, E. S., Izatt, L., Izquierdo, A., Jakubowska, A., James, P., Janavicius, R., Jernetz, M., Jensen, A., Jensen, U. B., John, E. M., Johnatty, S., Jones, M. E., Kannisto, P., Karlan, B. Y., Karnezis, A., Kast, K., Kennedy, C. J., Khusnutdinova, E., Kiemeney, L. A., Kiiski, J. I., Kim, S-W., Kjaer, S. K., Köbel, M., Kopperud, R. K., Kruse, T. A., Kupryjanczyk, J., Kwong, A., Laitman, Y., Lambrechts, D., Larrañaga, N., Larson, M. C., Lazaro, C., Le, N. D., Le Marchand, L., Lee, J. W., Lele, S. B., Leminen, A., Leroux, D., Lester, J., Lesueur, F., Levine, D. A., Liang, D., Liebrich, C., Lilyquist, J., Lipworth, L., Lissowska, J., Lu, K. H., Lubinński, J., Luccarini, C., Lundvall, L., Mai, P. L., Mendoza-Fandiño, G., Manoukian, S., Massuger, L. F. A. G., May, T., Mazoyer, S., McAlpine, J. N., McGuire, V., McLaughlin, J. R., McNeish, I., Meindl, A., Menon, U., Mensenkamp, A. R., Merritt, M. A., Milne, R. L., Mitchell, G., Modugno, F., Moes-Sosnowska, J., Moffitt, M., Montagna, M., Moysich, K. B., Mulligan, A. M., Musinsky, J., Nathanson, K. L., Nedergaard, L., Ness, R. B., Neuhausen, S. L., Nevanlinna, H., Niederacher, D., Nussbaum, R. L., Odunsi, K., Olah, E., Olopade, O. I., Olsson, H., Olswold, C., O'Malley, D. M., Ong, K-R., Onland-Moret, N. C., Orr, N., Orsulic, S., Osorio, A., Palli, D., Papi, L., Park-Simon, T-W., Paul, J., Pearce, C. L., Pedersen, I. S., Peeters, P. H. M., Peissel, B., Peixoto, A., Pejovic, T., Pelttari, L. M., Permuth, J. B., Peterlongo, P., Pezzani, L., Pfeiler, G., Phillips, K-A., Piedmonte, M., Pike, M. C., Piskorz, A. M., Poblete, S. R., Pocza, T., Poole, E. M., Poppe, B., Porteous, M. E., Prieur, F., Prokofyeva, D., Pugh, E., Pujana, M. A., Pujol, P., Radice, P., Rantala, J., Rappaport-Fuerhauser, C., Rennert, G., Rhiem, K., Rice, P., Richardson, A., Robson, M., Rodriguez, G. C., Rodríguez-Antona, C., Romm, J., Rookus, M. A., Rossing, M. A., Rothstein, J. H., Rudolph, A., Runnebaum, I. B., Salvesen, H. B., Sandler, D. P., Schoemaker, M. J., Senter, L., Setiawan, V. W., Severi, G., Sharma, P., Shelford, T., Siddiqui, N., Side, L. E., Sieh, W., Singer, C. F., Sobol, H., Song, H., Southey, M. C., Spurdle, A. B., Stadler, Z., Steinemann, D., Stoppa-Lyonnet, D., Sucheston-Campbell, L. E., Sukiennicki, G., Sutphen, R., Sutter, C., Swerdlow, A. J., Szabo, C. I., Szafron, L., Tan, Y. Y., Taylor, J. A., tea, M-K., Teixeira, M. R., teo, S-H., Terry, K. L., Thompson, P. J., Thomsen, L. C. V., Thull, D. L., Tihomirova, L., Tinker, A. V., Tischkowitz, M., Tognazzo, S., Toland, A. E., Tone, A., Trabert, B., Travis, R. C., Trichopoulou, A., Tung, N., Tworoger, S. S., van Altena, A. M., van den Berg, D., van der Hout, A. H., van der Luijt, R. B., van Heetvelde, M., van Nieuwenhuysen, E., van Rensburg, E. J., Vanderstichele, A., Varon-Mateeva, R., Vega, A., Edwards, D. V., Vergote, I., Vierkant, R. A., Vijai, J., Vratimos, A., Walker, L., Walsh, C., Wand, D., Wang-Gohrke, S., Wappenschmidt, B., Webb, P. M., Weinberg, C. R., Weitzel, J. N., Wentzensen, N., Whittemore, A. S., Wijnen, J. T., Wilkens, L. R., Wolk, A., Woo, M., Wu, X., Wu, A. H., Yang, H., Yannoukakos, D., Ziogas, A., Zorn, K. K., Narod, S. A., Easton, D. F., Amos, C. I., Schildkraut, J. M., Ramus, S. J., Ottini, L., Goodman, M. T., Park, S. K., Kelemen, L. E., Risch, H. A., Thomassen, M., Offit, K., Simard, J., Schmutzler, R. K., Hazelett, D., Monteiro, A. N., Couch, F. J., Berchuck, A., Chenevix-Trench, G., Goode, E. L., Sellers, T. A., Gayther, S. A., Antoniou, A. C. & Pharoah, P. D. P., 1 May 2017, In: Nature Genetics. 49, 5, p. 680-691 12 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  273 Citations (Scopus)

• Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

  Milne, R. L., Kuchenbaecker, K. B., Michailidou, K., Beesley, J., Kar, S., Lindstrom, S., Hui, S., Lemaçon, A., Soucy, P., Dennis, J., Jiang, X., Rostamianfar, A., Finucane, H., Bolla, M. K., McGuffog, L., Wang, Q., Aalfs, C. M., Abctctb, I., Adams, M., Adlard, J., & 711 othersAgata, S., Ahmed, S., Ahsan, H., Aittom, K. Ä., Fares, A. E., Allen, J., Ambrosone, C. B., Amos, C. I., Andrulis, I. L., Anton-Culver, H., Antonenkova, N. N., Arndt, V., Arnold, N., Aronson, K. J., Auber, B., Auer, P. L., Ausems, M. G. M., Azzollini, J., François, B., Balma, J. N., Barile, M., Barjhoux, L., Barkardottir, R. B., Barrdahl, M., Barnes, D., Barrowdale, D., Baynes, C., Beckmann, M. W., Benitez, J., Bermisheva, M., Bernstein, L., Bignon, Y. J., Blazer, K. R., Blok, M. J., Blomqvist, C., Blot, W., Bobolis, K., Boeckx, B., Bogdanova, N. V., Bojesen, A., Bojesen, S. E., Bonanni, B., Anne-Lise, B. D., Bozsik, A., Bradbury, A. R., Brand, J. S., Brauch, H., Brenner, H., Brigitte, B. D. P., Brewer, C., Brinton, L., Broberg, P., Angela, B. W., Brunet, J., Brüning, T., Burwinkel, B., Buys, S. S., Byun, J., Cai, Q., Cald, T. É., Caligo, M. A., Campbell, I., Canzian, F., Caron, O., Carracedo, A., Carter, B. D., Esteban, C., Castera, L., Virginie, C. M., Chan, S. B., Jenny, C. C., Chanock, S. J., Chen, X., Cheng, T. Y. D., Chiquette, J., Christiansen, H., Claes, K. B., Clarke, C. L., Conner, T., Conroy, D. M., Cook, J., Cordina-Duverger, E., Cornelissen, S., Coupier, I., Cox, A., Cox, D. G., Cross, S. S., Cuk, K., Cunningham, J. M., Czene, K., Daly, M. B., Damiola, F., Darabi, H., Davidson, R., Leeneer, K. D. L., Devilee, P., Dicks, E., Diez, O., Ding, Y. C., Ditsch, N., Doheny, K. F., Domchek, S. M., Dorfling, C. M., Dörk, T., Dos-Santos-Silva, I., Dubois, S., Dugué, P. A., Dumont, M., Dunning, A. M., Durcan, L., Dwek, M., Dworniczak, B., Eccles, D., Eeles, R., Ehrencrona, H., Eilber, U., Ejlertsen, B., Ekici, A. B., Eliassen, A. H., Engel, C., Eriksson, M., Fachal, L., Faivre, L., Fasching, P. A., Faust, U., Figueroa, J., Flesch-Janys, D., Fletcher, O., Flyger, H., Foulkes, W. D., Friedman, E., Fritschi, L., Frost, D., Gabrielson, M., Gaddam, P., Gammon, M. D., Ganz, P. A., Gapstur, S. M., Garber, J., Garcia-Barberan, V., Garciá-Saénz, J. A., Gaudet, M. M., Gauthier-Villars, M., Gehrig, A., Georgoulias, V., Gerdes, A. M., Giles, G. G., Glendon, G., Godwin, A. K., Goldberg, M. S., Goldgar, D. E., González-Neira, A., Goodfellow, P., Greene, M. H., Grenaker, G. A. I., Grip, M., Gronwald, J., Grundy, A., Gschwantler, D. K., Guénel, P., Guo, Q., Haeberle, L., Hahnen, E., Haiman, C. A., Håkansson, N., Hallberg, E., Hamann, U., Hamel, N., Hankinson, S., Hansen, T. V., Harrington, P., Hart, S. N., Hartikainen, J. M., Healey, C. S., Hein, A., Helbig, S., Henderson, A., Heyworth, J., Hicks, B., Hillemanns, P., Hodgson, S., Hogervorst, F. B., Hollestelle, A., Hooning, M. J., Hoover, B., Hopper, J. L., Hu, C., Huang, G., Hulick, P. J., Humphreys, K., Hunter, D. J., Imyanitov, E. N., Isaacs, C., Iwasaki, M., Izatt, L., Jakubowska, A., James, P., Janavicius, R., Janni, W., Jensen, U. B., John, E. M., Johnson, N., Jones, K., Jones, M., Jukkola-Vuorinen, A., Kaaks, R., Kabisch, M., Kaczmarek, K., Kang, D., Kast, K., Keeman, R., Kerin, M. J., Kets, C. M., Keupers, M. H., Khan, S., Khusnutdinova, E., Kiiski, J. I., Kim, S. W., Knight, J. A., Konstantopoulou, I., Kosma, V. M., Kristensen, V. N., Kruse, T. A., Kwong, A., Lænkholm, A. V., Laitman, Y., Lalloo, F., Lambrechts, D., Landsman, K., Lasset, C., Lazaro, C., Marchand, L. L., Milne, R. L., Kuchenbaecker, K. B., Michailidou, K., Beesley, J., Kar, S., Lindström, S., Hui, S., Lemaçon, A., Soucy, P., Dennis, J., Jiang, X., Rostamianfar, A., Finucane, H., Bolla, M. K., McGuffog, L., Wang, Q., Aalfs, C. M., Adams, M., Adlard, J., Agata, S., Ahmed, S., Ahsan, H., Aittom, K. Ä., Al-Ejeh, F., Allen, J., Ambrosone, C. B., Amos, C. I., Andrulis, I. L., Anton-Culver, H., Antonenkova, N. N., Arndt, V., Arnold, N., Aronson, K. J., Auber, B., Auer, P. L., Margreet, G. M. A., Azzollini, J., Bacot, F., Balma, J. N., Barile, M., Barjhoux, L., Barkardottir, R. B., Barrdahl, M., Barnes, D., Barrowdale, D., Baynes, C., Beckmann, M. W., Benitez, J., Bermisheva, M., Bernstein, L., Bignon, Y. J., Blazer, K. R., Blok, M. J., Blomqvist, C., Blot, W., Bobolis, K., Boeckx, B., Bogdanova, N. V., Bojesen, A., Bojesen, S. E., Bonanni, B., Børresen-Dale, A. L., Bozsik, A., Bradbury, A. R., Brand, J. S., Brauch, H., Brenner, H., Bressac-De, B. P., Brewer, C., Brinton, L., Broberg, P., Brooks-Wilson, A., Brunet, J., Brüning, T., Burwinkel, B., Buys, S. S., Byun, J., Cai, Q., Cald, T. É., Caligo, M. A., Campbell, I., Canzian, F., Caron, O., Carracedo, A., Carter, B. D., Castelao, J. E., Castera, L., Caux-Moncoutier, V., Chan, S. B., Chang-Claude, J., Chanock, S. J., Chen, X., Cheng, T. Y. D., Chiquette, J., Christiansen, H., McLaes, K. B., Clarke, C. L., Conner, T., Conroy, D. M., Cook, J., Cordina-Duverger, E., Cornelissen, S., Coupier, I., Cox, A., Cox, D. G., Cross, S. S., Cuk, K., Cunningham, J. M., Czene, K., Daly, M. B., Damiola, F., Darabi, H., Davidson, R., Leeneer, K. D., Devilee, P., Dicks, E., Diez, O., Ding, Y. C., Ditsch, N., Doheny, K. F., Domchek, S. M., Dorfling, C. M., Dörk, T., Dos-Santos-Silva, I., Dubois, S., Dugué, P. A., Dumont, M., Dunning, A. M., Durcan, L., Dwek, M., Dworniczak, B., Eccles, D., Eeles, R., Ehrencrona, H., Eilber, U., Ejlertsen, B., Ekici, A. B., Eliassen, A. H., Engel, C., Eriksson, M., Fachal, L., Faivre, L., Fasching, P. A., Faust, U., Figueroa, J., Dieter, F. J., Fletcher, O., Flyger, H., Foulkes, W. D., Friedman, E., Fritschi, L., Frost, D., Gabrielson, M., Gaddam, P., Gammon, M. D., Ganz, P. A., Gapstur, S. M., Garber, J., Garcia-Barberan, V., Garciá-Saénz, J. A., Gaudet, M. M., Gauthier-Villars, M., Gehrig, A., Georgoulias, V., Gerdes, A. M., Giles, G. G., Glendon, G., Godwin, A. K., Goldberg, M. S., Goldgar, D. E., González-Neira, A., Goodfellow, P., Greene, M. H., Grenaker, G. A. I., Grip, M., Gronwald, J., Grundy, A., Gschwantler-Kaulich, D., Guénel, P., Guo, Q., Haeberle, L., Hahnen, E., Haiman, C. A., Håkansson, N., Hallberg, E., Hamann, U., Hamel, N., Hankinson, S., Hansen, T. V., Harrington, P., Hart, S. N., Hartikainen, J. M., Healey, C. S., Hein, A., Helbig, S., Henderson, A., Heyworth, J., Hicks, B., Hillemanns, P., Hodgson, S., Hogervorst, F. B., Hollestelle, A., Hooning, M. J., Hoover, B., Hopper, J. L., Hu, C., Huang, G., Hulick, P. J., Humphreys, K., Hunter, D. J., Imyanitov, E. N., Isaacs, C., Iwasaki, M., Izatt, L., Jakubowska, A., James, P., Janavicius, R., Janni, W., Jensen, U. B., John, E. M., Johnson, N., Jones, K., Jones, M., Jukkola-Vuorinen, A., Kaaks, R., Kabisch, M., Kaczmarek, K., Kang, D., Kast, K., Keeman, R., Kerin, M. J., Kets, C. M., Keupers, M., Khan, S., Khusnutdinova, E., Kiiski, J. I., Kim, S. W., Knight, J. A., Konstantopoulou, I., Kosma, V. M., Kristensen, V. N., Kruse, T. A., Kwong, A., Lænkholm, A. V., Laitman, Y., Lalloo, F., Lambrechts, D., Landsman, K., Lasset, C., Lazaro, C., Marchand, L. L., Lecarpentier, J., Lee, A., Lee, E., Won, J. L., Lee, M. H., Lejbkowicz, F., Lesueur, F., Li, J., Lilyquist, J., Lincoln, A., Lindblom, A., Lissowska, J., Lo, W. Y., Loibl, S., Long, J., Loud, J. T., Lubinski, J., Luccarini, C., Lush, M., MacInnis, R. J., Maishman, T., Makalic, E., Kostovska, I. M., Malone, K. E., Siranoush, M., Manson, J. E., Margolin, S., Martens, J. W., Martinez, M. E., Matsuo, K., Mavroudis, D., Mazoyer, S., McLean, C., Meijers-Heijboer, H., Menéndez, P., Meyer, J., Miao, H., Miller, A., Miller, N., Mitchell, G., Montagna, M., Muir, K., Mulligan, A. M., Mulot, C., Nadesan, S., Nathanson, K. L., Neuhausen, S. L., Nevanlinna, H., Nevelsteen, I., Niederacher, D., Nielsen, S. F., Nordestgaard, B. G., Norman, A., Nussbaum, R. L., Olah, E., Olopade, O. I., Olson, J. E., Olswold, C., Ong, K. R., Oosterwijk, J. C., Orr, N., Osorio, A., Pankratz, V. S., Papi, L., Park-Simon, T. W., Paulsson-Karlsson, Y., Lloyd, R., Pedersen, I. S., Peissel, B., Peixoto, A., Perez, J. I., Peterlongo, P., Peto, J., Pfeiler, G., Phelan, C. M., Pinchev, M., Plaseska-Karanfilska, D., Poppe, B., Porteous, M. E., Prentice, R., Presneau, N., Prokofieva, D., Pugh, E., Pujana, M. A., Pylkäs, K., Rack, B., Radice, P., Rahman, N., Rantala, J., Rappaport-Fuerhauser, C., Rennert, G., Rennert, H. S., Rhenius, V., Rhiem, K., Richardson, A., Rodriguez, G. C., Romero, A., Romm, J., Rookus, M. A., Rudolph, A., Ruediger, T., Saloustros, E., Sanders, J., Sandler, D. P., Sangrajrang, S., Sawyer, E. J., Schmidt, D. F., Schoemaker, M. J., Schumacher, F., Schürmann, P., Schwentner, L., Scott, C., Scott, R. J., Seal, S., Senter, L., Seynaeve, C., Shah, M., Sharma, P., Shen, C. Y., Sheng, X., Shimelis, H., Shrubsole, M. J., Shu, X. O., Side, L. E., Singer, C. F., Sohn, C., Southey, M. C., Spinelli, J. J., Spurdle, A. B., Stegmaier, C., Stoppa-Lyonnet, D., Sukiennicki, G., Surowy, H., Sutter, C., Swerdlow, A., Szabo, C. I., Tamimi, R. M., Tan, Y. Y., Taylor, J. A., Tejada, M. I., Tengström, M., Teo, S. H., Terry, M. B., Tessier, D. C., Teul, A. E., Thöne, K., Thull, D. L., Tibiletti, M. G., Tihomirova, L., Tischkowitz, M., Toland, A. E., Tollenaar, R. A. M., Tomlinson, I., Tong, L., Torres, D., Tranchant, M., Truong, T., Tucker, K., Tung, N., Tyrer, J., Ulmer, H. U., Vachon, C., Christi, V. A. J., Den Berg, D. V., Ouweland, A. M. V., Rensburg, E. J., Varesco, L., Varon-Mateeva, R., Vega, A., Viel, A., Vijai, J., Vincent, D., Vollenweider, J., Walker, L., Wang, Z., Wang-Gohrke, S., Wappenschmidt, B., Weinberg, C. R., Weitzel, J. N., Wendt, C., Wesseling, J., Whittemore, A. S., Wijnen, J. T., Willett, W., Winqvist, R., Wolk, A., Wu, A. H., Xia, L., Yang, X. R., Yannoukakos, D., Zaffaroni, D., Zheng, W., Zhu, B., Ziogas, A., Ziv, E., Zorn, K. K., Gago-Dominguez, M., Mannermaa, A., Olsson, H., Teixeira, M. R., Stone, J., Offit, K., Ottini, L., Park, S. K., Thomassen, M., Hall, P., Meindl, A., Schmutzler, R. K., Droit, A., Bader, G. D., Pharoah, P. D., Couch, F. J., Easton, D. F., Kraft, P., Chenevix-Trench, G., Garciá-Closas, M., Schmidt, M. K., Antoniou, A. C., Simard, J., Aittomäki, K., Balmaña, J., Bressac-de Paillerets, B., Caldés, T., Alnæs, G. I. G., Lee, J. W., Manoukian, S., Teulé, A. & van Asperen, C. J., 1 Dec 2017, In: Nature Genetics. 49, 12, p. 1767-1778 12 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  228 Citations (Scopus)

• Incidental Findings on Brain Imaging in the General Pediatric Population

  Jansen, P. R., Dremmen, M., van den Berg, A., Dekkers, I. A., Blanken, L. M. E., Muetzel, R. L., Bolhuis, K., Mulder, R. M., Kocevska, D., Jansen, T. A., de Wit, M-C. Y., Neuteboom, R. F., Polderman, T. J. C., Posthuma, D., Jaddoe, V. W. V., Verhulst, F. C., Tiemeier, H., van der Lugt, A. & White, T. J. H., 19 Oct 2017, In: The New England journal of medicine. 377, 16, p. 1593-1595 3 p.

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

  Open Access
  77 Citations (Scopus)

• In Situ complement activation and T-cell immunity in leprosy spectrum: An immunohistological study on leprosy lesional skin

  Bahia El Idrissi, N., Iyer, A. M., Ramaglia, V., Rosa, P. S., Soares, C. T., Baas, F. & Das, P. K., 2017, In: PLOS ONE. 12, 5, p. e0177815

  Research output: Contribution to journal › Article › Academic › peer-review
  12 Citations (Scopus)

• Insulin deficiency results in reversible protein kinase A activation and tau phosphorylation

  van der Harg, J. M., Eggels, L., Bangel, F. N., Ruigrok, S. R., Zwart, R., Hoozemans, J. J. M., la Fleur, S. E. & Scheper, W., Jul 2017, In: Neurobiology of Disease. 103, p. 163-173 11 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  27 Citations (Scopus)

• Lamin A/C-Related Cardiac Disease Late Onset With a Variable and Mild Phenotype in a Large Cohort of Patients With the Lamin A/C p.(Arg331Gln) Founder Mutation

  Hoorntje, E. T., Bollen, I. A., Barge-Schaapveld, D. Q., van Tienen, F. H. J., te Meerman, G. J., Jansweijer, J. A., van Essen, A. J., Volders, P. G., Constantinescu, A. A., van den Akker, P. C., van Spaendonck-Zwarts, K. Y., Oldenburg, R. A., Marcelis, C. L., van der Smagt, J. J., Hennekam, E. A., Vink, A., Bootsma, M., Aten, E., Wilde, A. A. M., van den Wijngaard, A., & 5 othersBroers, J. L., Jongbloed, J. D., van der Velden, J., van den Berg, M. P. & van Tintelen, J. P., Aug 2017, In: Circulation-cardiovascular genetics. 10, 4, e001631.

  Research output: Contribution to journal › Article › Academic › peer-review
  38 Citations (Scopus)

• Long-term follow-up of patients with retinitis pigmentosa type 12 caused by CRB1 mutations: A severe phenotype with considerable interindividual variability

  Mathijssen, I. B., Florijn, R. J., Van Den Born, L. I., Zekveld-Vroon, R. C., Ten Brink, J. B., Plomp, A. S., Baas, F., Meijers-Heijboer, H., Bergen, A. A. B. & Van Schooneveld, M. J., 2017, In: Retina. 37, 1, p. 161-172 12 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  32 Citations (Scopus)

• LRSAM1-mediated ubiquitylation is disrupted in axonal Charcot-Marie-Tooth disease 2P

  Hakonen, J. E., Sorrentino, V., Avagliano Trezza, R., de Wissel, M. B., van den Berg, M., Bleijlevens, B., van Ruissen, F., Distel, B., Baas, F., Zelcer, N. & Weterman, M. A. J., 2017, In: Human Molecular Genetics. 26, 11, p. 2034-2041

  Research output: Contribution to journal › Article › Academic › peer-review
  14 Citations (Scopus)

• Multilevel analyses of SCN5A mutations in arrhythmogenic right ventricular dysplasia/cardiomyopathy suggest non-canonical mechanisms for disease pathogenesis

  te Riele, A. S. J. M., Agullo-Pascual, E., James, C. A., Leo-Macias, A., Cerrone, M., Zhang, M., Lin, X., Lin, B., Sobreira, N. L., Amat-Alarcon, N., Marsman, R. F., Murray, B., Tichnell, C., van der Heijden, J. F., Dooijes, D., van Veen, T. A. B., Tandri, H., Fowler, S. J., Hauer, R. N. W., Tomaselli, G., & 12 othersvan den Berg, M. P., Taylor, M. R. G., Brun, F., Sinagra, G., Wilde, A. A. M., Mestroni, L., Bezzina, C. R., Calkins, H., van Tintelen, J. P., Bu, L., Delmar, M. & Judge, D. P., 2017, In: Cardiovascular research. 113, 1, p. 102-111

  Research output: Contribution to journal › Article › Academic › peer-review
  132 Citations (Scopus)