European Journal of Human Genetics, 1476-5438

Journal

More filtering options
  1. 2019
  2. Motivations for data sharing—views of research participants from four European countries: A DIRECT study

    Shah, N., Coathup, V., Teare, H., Forgie, I., Giuseppe Nicola Giordano, Hansen, T. H., Groeneveld, L., Hudson, M., Pearson, E., Ruetten, H. & Kaye, J., 2019 Jan 30, In : European Journal of Human Genetics.

    Research output: Contribution to journalArticle

  3. A rare regulatory variant in the MEF2D gene affects gene regulation and splicing and is associated with a SLE sub-phenotype in Swedish cohorts

    Farias, F. H. G., Dahlqvist, J., Kozyrev, S. V., Leonard, D., Wilbe, M., Abramov, S. N., Alexsson, A., Pielberg, G. R., Hansson-Hamlin, H., Andersson, G., Tandre, K., Bengtsson, A. A., Sjöwall, C., Svenungsson, E., Gunnarsson, I., Rantapää-Dahlqvist, S., Syvänen, A. C., Sandling, J. K., Eloranta, M. L., Rönnblom, L. & 1 othersLindblad-Toh, K., 2019, In : European Journal of Human Genetics. 27, 3, p. 432-441

    Research output: Contribution to journalArticle

  4. 2017
  5. From Mendel to Medical Genetics

    Ulf Kristoffersson & Macek, M., 2017, In : European Journal of Human Genetics. 25, s2, p. S53-S59

    Research output: Contribution to journalReview article

  6. 2016
  7. Rare novel variants in the ZIC3 gene cause X-linked heterotaxy

    Paulussen, A. D. C., Steyls, A., Vanoevelen, J., Van Tienen, F. H. J., Krapels, I. P. C., Claes, G. R. F., Chocron, S., Velter, C., Tan-Sindhunata, G. M., Lundin, C., Valenzuela, I., Nagy, B., Bache, I., Maroun, L. L., Avela, K., Brunner, H. G., Smeets, H. J. M., Bakkers, J. & Van Den Wijngaard, A., 2016 Dec 1, In : European Journal of Human Genetics. 24, 12, p. 1783-1791 9 p.

    Research output: Contribution to journalArticle

  8. An update of a classical textbook.

    Ulf Kristoffersson, 2016, In : European Journal of Human Genetics. 24, 3, p. 467

    Research output: Contribution to journalReview (Book/Film/Exhibition/etc.)

  9. The (in)famous GWAS P-value threshold revisited and updated for low-frequency variants.

    Fadista, J., Manning, A. K., Florez, J. C. & Leif Groop, 2016, In : European Journal of Human Genetics. 24, p. 1202-1205

    Research output: Contribution to journalArticle

  10. 2015
  11. A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.

    Tham, E., Eklund, E. A., Hammarsjö, A., Per Bengtson, Geiberger, S., Lagerstedt-Robinson, K., Malmgren, H., Nilsson, D., Grigelionis, G., Conner, P., Lindgren, P., Lindstrand, A., Wedell, A., Albåge, M., Zielinska, K., Nordgren, A., Papadogiannakis, N., Nishimura, G. & Grigelioniene, G., 2015, In : European Journal of Human Genetics.

    Research output: Contribution to journalArticle

  12. Harmonising and linking biomedical and clinical data across disparate data archives to enable integrative cross-biobank research.

    Spjuth, O., Krestyaninova, M., Hastings, J., Shen, H-Y., Heikkinen, J., Waldenberger, M., Langhammer, A., Ladenvall, C., Esko, T., Persson, M-Å., Heggland, J., Dietrich, J., Ose, S., Gieger, C., Ried, J. S., Peters, A., Fortier, I., de Geus, E. J., Klovins, J., Zaharenko, L. & 16 othersWillemsen, G., Hottenga, J-J., Litton, J-E., Karvanen, J., Boomsma, D. I., Leif Groop, Rung, J., Palmgren, J., Pedersen, N. L., McCarthy, M. I., van Duijn, C. M., Hveem, K., Metspalu, A., Ripatti, S., Prokopenko, I. & Harris, J. R., 2015, In : European Journal of Human Genetics.

    Research output: Contribution to journalArticle

  13. Heritability estimates on Hodgkin's lymphoma: a genomic- versus population-based approach.

    Hauke Thomsen, da Silva Filho, M. I., Asta Försti, Fuchs, M., Ponader, S., von Strandmann, E. P., Eisele, L., Herms, S., Hofmann, P., Jan Sundquist, Engert, A. & Kari Hemminki, 2015, In : European Journal of Human Genetics. 23, 6, p. 824-830

    Research output: Contribution to journalArticle

  14. Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.

    Dondorp, W., de Wert, G., Bombard, Y., Bianchi, D. W., Bergmann, C., Borry, P., Chitty, L. S., Fellmann, F., Forzano, F., Hall, A., Henneman, L., Howard, H. C., Lucassen, A., Ormond, K., Peterlin, B., Radojkovic, D., Rogowski, W., Soller, M., Tibben, A., Tranebjærg, L. & 2 othersvan El, C. G. & Cornel, M. C., 2015, In : European Journal of Human Genetics. 23, 11, p. 1438-1450

    Research output: Contribution to journalArticle

  15. Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Summary and recommendations.

    Dondorp, W., de Wert, G., Bombard, Y., Bianchi, D. W., Bergmann, C., Borry, P., Chitty, L. S., Fellmann, F., Forzano, F., Hall, A., Henneman, L., Howard, H. C., Lucassen, A., Ormond, K., Peterlin, B., Radojkovic, D., Rogowski, W., Soller, M., Tibben, A., Tranebjærg, L. & 2 othersvan El, C. G. & Cornel, M. C., 2015, In : European Journal of Human Genetics.

    Research output: Contribution to journalArticle

  16. Points to consider for prioritizing clinical genetic testing services: a European consensus process oriented at accountability for reasonableness.

    Severin, F., Borry, P., Cornel, M. C., Daniels, N., Fellmann, F., Victoria Hodgson, S., Howard, H. C., John, J., Kääriäinen, H., Kayserili, H., Kent, A., Koerber, F., Kristoffersson, U., Kroese, M., Lewis, C., Marckmann, G., Meyer, P., Pfeufer, A., Schmidtke, J., Skirton, H. & 2 othersTranebjærg, L. & Rogowski, W. H., 2015, In : European Journal of Human Genetics. 23, 6, p. 729-735

    Research output: Contribution to journalArticle

  17. 2013
  18. Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders

    Travaglini, L., Brancati, F., Silhavy, J., Iannicelli, M., Nickerson, E., Elkhartoufi, N., Scott, E., Spencer, E., Gabriel, S., Thomas, S., Ben-Zeev, B., Bertini, E., Boltshauser, E., Chaouch, M., Cilio, M. R., de Jong, M. M., Kayserili, H., Ogur, G., Poretti, A., Signorini, S. & 7 othersUziel, G., Zaki, M. S., Johnson, C., Attié-Bitach, T., Gleeson, J. G., Valente, E. M. & International JSRD Study Group, 2013 Oct, In : European Journal of Human Genetics. 21, 10, p. 1074-8 5 p.

    Research output: Contribution to journalArticle

  19. Genes identified in Asian SLE GWASs are also associated with SLE in Caucasian populations

    Wang, C., Ahlford, A., Jarvinen, T. M., Nordmark, G., Eloranta, M-L., Gunnarsson, I., Svenungsson, E., Padyukov, L., Sturfelt, G., Jönsen, A., Bengtsson, A., Truedsson, L., Eriksson, C., Rantapaa-Dahlqvist, S., Sjowall, C., Julkunen, H., Criswell, L. A., Graham, R. R., Behrens, T. W., Kere, J. & 3 othersRonnblom, L., Syvanen, A-C. & Sandling, J. K., 2013, In : European Journal of Human Genetics. 21, 9, p. 994-999

    Research output: Contribution to journalArticle

  20. 2012
  21. Codon 72 polymorphism (rs1042522) of TP53 is associated with changes in diastolic blood pressure over time

    Reiling, E., Valeriya Lyssenko, Boer, J. M. A., Imholz, S., Verschuren, W. M. M., Isomaa, B., Tuomi, T., Leif Groop & Dolle, M. E. T., 2012, In : European Journal of Human Genetics. 20, 6, p. 696-700

    Research output: Contribution to journalArticle

  22. 2011
  23. A candidate gene study of the type I interferon pathway implicates IKBKE and IL8 as risk loci for SLE

    Sandling, J. K., Garnier, S., Sigurdsson, S., Wang, C., Nordmark, G., Gunnarsson, I., Svenungsson, E., Padyukov, L., Sturfelt, G., Jönsen, A., Bengtsson, A., Truedsson, L., Eriksson, C., Rantapaa-Dahlqvist, S., Malarstig, A., Strawbridge, R. J., Hamsten, A., Criswell, L. A., Graham, R. R., Behrens, T. W. & 4 othersEloranta, M-L., Alm, G., Ronnblom, L. & Syvanen, A-C., 2011, In : European Journal of Human Genetics. 19, 4, p. 479-484

    Research output: Contribution to journalArticle

  24. Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities Background Document to the ESHG recommendations on genetic testing and common disorders

    Becker, F., van El, C. G., Ibarreta, D., Zika, E., Hogarth, S., Borry, P., Cambon-Thomsen, A., Cassiman, J. J., Evers-Kiebooms, G., Hodgson, S., Janssens, A. C. J. W., Kaariainen, H., Krawczak, M., Kristoffersson, U., Lubinski, J., Patch, C., Penchaszadeh, V. B., Read, A., Rogowski, W., Sequeiros, J. & 6 othersTranebjaerg, L., van Langen, I. M., Wallace, H., Zimmern, R., Schmidtke, J. & Cornel, M. C., 2011, In : European Journal of Human Genetics. 19, S.1, p. S6-S44

    Research output: Contribution to journalArticle

  25. 2010
  26. NordicDB: a Nordic pool and portal for genome-wide control data

    Leu, M., Humphreys, K., Surakka, I., Rehnberg, E., Muilu, J., Rosenstrom, P., Almgren, P., Jaaskelainen, J., Lifton, R. P., Kyvik, K. O., Kaprio, J., Pedersen, N. L., Palotie, A., Hall, P., Gronberg, H., Leif Groop, Peltonen, L., Palmgren, J. & Ripatti, S., 2010, In : European Journal of Human Genetics. 18, 12, p. 1322-1326

    Research output: Contribution to journalArticle

  27. The PSEN1 I143T mutation in a Swedish family with Alzheimer's disease: clinical report and quantification of A beta in different brain regions

    Keller, L., Welander, H., Chiang, H-H., Tjernberg, L. O., Nennesmo, I., Åsa Wallin & Graff, C., 2010, In : European Journal of Human Genetics. 18, 11, p. 1202-1208

    Research output: Contribution to journalArticle

  28. 2008
  29. Detection of submicroscopic constitutional chromosome aberrations in clinical diagnostics: a validation of the practical performance of different array platforms

    Zhang, Z-F., Ruivenkamp, C., Johan Staaf, Zhu, H., Barbaro, M., Petillo, D., Khoo, S. K., Åke Borg, Fan, Y-S. & Schoumans, J., 2008, In : European Journal of Human Genetics. 16, 7, p. 786-792

    Research output: Contribution to journalArticle

  30. Regulations and practices of genetic counselling in 38 European countries: the perspective of national representatives

    Rantanen, E., Hietala, M., Ulf Kristoffersson, Nippert, I., Schmidtke, J., Sequeiros, J. & Kaariainen, H., 2008, In : European Journal of Human Genetics. 16, 10, p. 1208-1216

    Research output: Contribution to journalArticle

  31. The effect of pedigree structure on detection of deletions and other null alleles.

    Johansson, A. & Torbjörn Säll, 2008, In : European Journal of Human Genetics. 16, 10, p. 1225-1234

    Research output: Contribution to journalArticle

  32. What is ideal genetic counselling? A survey of current international guidelines

    Rantanen, E., Hietala, M., Ulf Kristoffersson, Nippert, I., Schmidtke, J., Sequeiros, J. & Kaariainen, H., 2008, In : European Journal of Human Genetics. 16, 4, p. 445-452

    Research output: Contribution to journalArticle

  33. 2007
  34. Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients

    Schoumans, J., Wincent, J., Barbaro, M., Djureinovic, T., Maguire, P., Forsberg, L., Johan Staaf, Thuresson, A. C., Åke Borg, Nordgren, A., Malm, G. & Anderlid, B. M., 2007, In : European Journal of Human Genetics. 15, 2, p. 143-149

    Research output: Contribution to journalArticle

  35. Cytogenetic Guidelines and Quality Assurance: a common European framework for quality assessment for constitutional and acquired cytogenetic investigations

    Hastings, R. J., Cavani, S., Bricarelli, F. D., Patsalis, P. C. & Ulf Kristoffersson, 2007, In : European Journal of Human Genetics. 15, 5, p. 525-527

    Research output: Contribution to journalArticle

  36. 2006
  37. Handy book on cancer genetics risk assessment

    Ulf Kristoffersson, 2006, In : European Journal of Human Genetics. 14, 7, p. 888-888

    Research output: Contribution to journalReview (Book/Film/Exhibition/etc.)

  38. 2005
  39. CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia

    Kohl, S., Varsanyi, B., Antunes, G. A., Baumann, B., Hoyng, C. B., Jagle, H., Rosenberg, T., Kellner, U., Lorenz, B., Salati, R., Jurklies, B., Farkas, A., Andréasson, S., Weleber, R. G., Jacobson, S. G., Rudolph, G., Castellan, C., Dollfus, H., Legius, E., Anastasi, M. & 8 othersBitoun, P., Lev, D., Sieving, P. A., Munier, F. L., Zrenner, E., Sharpe, L. T., Cremers, F. P. M. & Wissinger, B., 2005, In : European Journal of Human Genetics. 13, 3, p. 302-308

    Research output: Contribution to journalArticle

  40. Haplotype construction of the FRDA gene and evaluation of its role in type II diabetes.

    Holmkvist, J., Almgren, P., Parikh, H., Zucchelli, M., Kere, J., Leif Groop & Lindgren, C. M., 2005, In : European Journal of Human Genetics. 13, 7, p. 849-855

    Research output: Contribution to journalArticle

  41. 2004
  42. 1024C > T (R342X) is a recurrent PHF6 mutation also found in the original Borjeson-Forssman-Lehmann syndrome family

    Lower, KM., Solders, G., Bondeson, ML., Nelson, J., Arne Brun, Crawford, J., Malm, G., Borjeson, M., Turner, G., Partington, M. & Gecz, J., 2004, In : European Journal of Human Genetics. 12, 10, p. 787-789

    Research output: Contribution to journalLetter

  43. An excess of chromosome 1 breakpoints in male infertility.

    Bache, I., Van Assche, E., Cingoz, S., Bugge, M., Tümer, Z., Hjorth, M., Lundsteen, C., Lespinasse, J., Winther, K., Niebuhr, A., Kalscheuer, V., Liebaers, I., Bonduelle, M., Tournaye, H., Ayuso, C., Barbi, G., Blennow, E., Bourrouillou, G., Brondum-Nielsen, K., Bruun-Petersen, G. & 39 othersCroquette, M-F., Dahoun, S., Dallapiccola, B., Davison, V., Delobel, B., Duba, H-C., Duprez, L., Ferguson-Smith, M., FitzPatrick, D. R., Grace, E., Hansmann, I., Hultén, M., Jensen, P. KA., Jonveaux, P., Ulf Kristoffersson, Lopez-Pajares, I., McGowan-Jordan, J., Murken, J., Orera, M., Parkin, T., Passarge, E., Ramos, C., Rasmussen, K., Schempp, W., Schubert, R., Schwinger, E., Shabtai, F., Smith, K., Stallings, R., Stefanova, M., Tranebjerg, L., Turleau, C., van der Hagen, C. B., Vekemans, M., Kokalj Vokac, N., Wagner, K., Wahlstroem, J., Zelante, L. & Tommerup, N., 2004, In : European Journal of Human Genetics. 12, 12, p. 993-1000

    Research output: Contribution to journalArticle

  44. Association between a polymorphism in the carboxyl ester lipase gene and serum cholesterol profile

    Bengtsson-Ellmark, SH., Nilsson, J., Marju Orho-Melander, Dahlenborg, K., Leif Groop & Bjursell, G., 2004, In : European Journal of Human Genetics. 12, 8, p. 627-632

    Research output: Contribution to journalArticle

  45. 2003
  46. Finnish and Swedish genotypes and risk of cancer in Sweden

    Kari Hemminki & Xinjun Li, 2003 Mar, In : European Journal of Human Genetics. 11, 3, p. 207-209 3 p.

    Research output: Contribution to journalLetter

  47. A candidate region for Asperger syndrome defined by two 17p breakpoints

    Tentler, D., Johannesson, T., Johansson, M., Maria Råstam, Gillberg, C., Orsmark, C., Carlsson, B., Wahlström, J. & Dahl, N., 2003, In : European Journal of Human Genetics. 11, p. 189-195

    Research output: Contribution to journalArticle

  48. Data storage and DNA banking for biomedical research: technical, social and ethical issues.

    Human Genetics’ PPPC:, E. S. O., Aymé, S., Bobrow, M., Cassiman, J-J., Evers-Kiebooms, G., Farndon, P., Kääriäinen, H., Ulf Kristoffersson, Pembrey, M., Raeburn, S., Schmidtke, J., ten Kate, L. & Tranebjaerg, L., 2003, In : European Journal of Human Genetics. 11, p. 906-908

    Research output: Contribution to journalArticle

  49. Genetic information and testing insurance and employment: technical, social, and ethical issues.

    Human Genetics’ PPPC:, E. S. O., Aymé, S., Bobrow, M., Evers-Kiebooms, G., Farndon, P., Kääriäinen, H., Ulf Kristoffersson, Pembrey, M., Raeburn, S., Schinzel, A., Schmidtke, J., Kate, L. T. L. T. & Tranebjaerg, L., 2003, In : European Journal of Human Genetics. 11, p. 909-910

    Research output: Contribution to journalArticle

  50. Introduction - Public and Professional Policy Committee Guidelines.

    Aymé, S., 2003, In : European Journal of Human Genetics. 11, Suppl. 2, p. 1

    Research output: Contribution to journalArticle

  51. Population genetic screening programmes: technical, social, and ethical issues.

    Human Genetics’ PPPC:, E. S. O., Aymé, S., Bobrow, M., Evers-Kiebooms, G., Farndon, P., Kääriäinen, H., Ulf Kristoffersson, Pembrey, M., Raeburn, S., Schinzel, A., Schmidtke, J., ten Kate, L. & Tranebjaerg, L., 2003, In : European Journal of Human Genetics. 11, p. 903-905

    Research output: Contribution to journalArticle

  52. Provision of genetic service in Europe: current practices and issues.

    Aymé, S., Cassiman, J-J., Coviello, D., Evers-Kiebooms, G., Kääriäinen, H., Ulf Kristoffersson, Pembrey, M., Schmidtke, J., ten Kate, L. & Tranebjaerg, L., 2003, In : European Journal of Human Genetics. 11, p. 900-902

    Research output: Contribution to journalArticle

  53. Provision of genetic services in Europe: current practices and issues

    Godard, B., Kaariainen, H., Ulf Kristoffersson, Tranebjaerg, L., Coviello, D. & Ayme, S., 2003, In : European Journal of Human Genetics. 11, p. S13-S48

    Research output: Contribution to journalArticle

  54. 2002
  55. Both common and unique susceptibility genes in different rat strains with pristane-induced arthritis.

    Lu, S., Nordquist, N., Holmberg, J., Olofsson, P., Pettersson, U. & Holmdahl, R., 2002, In : European Journal of Human Genetics. 10, 8, p. 475-483

    Research output: Contribution to journalArticle

  56. 2001
  57. Haplotype analysis in Icelandic and Finnish BRCA2 999del5 breast cancer families

    Barkardottir, R. B., Sarantaus, L., Arason, A., Vehmanen, P., Pär-Ola Bendahl, Kainu, T., Syrjakoski, K., Krahe, R., Huusko, P., Pyrhonen, S., Holli, K., Kallioniemi, O-P., Egilsson, V., Kere, J. & Nevanlinna, H., 2001, In : European Journal of Human Genetics. 9, 10, p. 773-779

    Research output: Contribution to journalArticle

  58. Lack of replication of association findings in complex disease: an analysis of 15 polymorphisms in prior candidate genes for sporadic Alzheimer's disease

    Prince, J. A., Feuk, L., Sawyer, S. L., Gottfries, J., Ricksten, A., Katarina Nägga, Bogdanovic, N., Blennow, K. & Brookes, A. J., 2001, In : European Journal of Human Genetics. 9, 6, p. 437-444

    Research output: Contribution to journalArticle