European Journal of Human Genetics, 1476-5438

Tidskrift

Fler filtreringsmöjligheter
  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, I : European Journal of Human Genetics.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  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 andraLindblad-Toh, K., 2019, I : European Journal of Human Genetics. 27, 3, s. 432-441

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  4. A stroke gene panel for whole-exome sequencing

    Andreea Ilinca, Sofie Samuelsson, Paul Piccinelli, Soller, M., Ulf Kristoffersson & Arne G. Lindgren, 2019, I : European Journal of Human Genetics. 27, 2, s. 317-324

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  5. The GDPR and the research exemption: considerations on the necessary safeguards for research biobanks

    Staunton, C., Santa Slokenberga & Mascalzoni, D., 2019, I : European Journal of Human Genetics.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  6. 2017
  7. From Mendel to Medical Genetics

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

    Forskningsoutput: TidskriftsbidragÖversiktsartikel

  8. 2016
  9. 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, I : European Journal of Human Genetics. 24, 12, s. 1783-1791 9 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  10. An update of a classical textbook.

    Ulf Kristoffersson, 2016, I : European Journal of Human Genetics. 24, 3, s. 467

    Forskningsoutput: TidskriftsbidragRecension av bok/film/utställning etc.

  11. 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, I : European Journal of Human Genetics. 24, s. 1202-1205

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  12. 2015
  13. 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, I : European Journal of Human Genetics.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  14. 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 andraWillemsen, 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, I : European Journal of Human Genetics.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  15. 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, I : European Journal of Human Genetics. 23, 6, s. 824-830

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  16. 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 andravan El, C. G. & Cornel, M. C., 2015, I : European Journal of Human Genetics. 23, 11, s. 1438-1450

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  17. 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 andravan El, C. G. & Cornel, M. C., 2015, I : European Journal of Human Genetics.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  18. 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 andraTranebjærg, L. & Rogowski, W. H., 2015, I : European Journal of Human Genetics. 23, 6, s. 729-735

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  19. 2013
  20. 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 andraUziel, G., Zaki, M. S., Johnson, C., Attié-Bitach, T., Gleeson, J. G., Valente, E. M. & International JSRD Study Group, 2013 okt, I : European Journal of Human Genetics. 21, 10, s. 1074-8 5 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  21. 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 andraRonnblom, L., Syvanen, A-C. & Sandling, J. K., 2013, I : European Journal of Human Genetics. 21, 9, s. 994-999

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  22. 2012
  23. 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, I : European Journal of Human Genetics. 20, 6, s. 696-700

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  24. 2011
  25. 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 andraEloranta, M-L., Alm, G., Ronnblom, L. & Syvanen, A-C., 2011, I : European Journal of Human Genetics. 19, 4, s. 479-484

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  26. 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 andraTranebjaerg, L., van Langen, I. M., Wallace, H., Zimmern, R., Schmidtke, J. & Cornel, M. C., 2011, I : European Journal of Human Genetics. 19, S.1, s. S6-S44

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  27. 2010
  28. 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, I : European Journal of Human Genetics. 18, 12, s. 1322-1326

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  29. 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, I : European Journal of Human Genetics. 18, 11, s. 1202-1208

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  30. 2008
  31. 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, I : European Journal of Human Genetics. 16, 7, s. 786-792

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  32. 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, I : European Journal of Human Genetics. 16, 10, s. 1208-1216

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

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

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  34. 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, I : European Journal of Human Genetics. 16, 4, s. 445-452

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  35. 2007
  36. 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, I : European Journal of Human Genetics. 15, 2, s. 143-149

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  37. 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, I : European Journal of Human Genetics. 15, 5, s. 525-527

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  38. 2006
  39. Handy book on cancer genetics risk assessment

    Ulf Kristoffersson, 2006, I : European Journal of Human Genetics. 14, 7, s. 888-888

    Forskningsoutput: TidskriftsbidragRecension av bok/film/utställning etc.

  40. 2005
  41. 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 andraBitoun, P., Lev, D., Sieving, P. A., Munier, F. L., Zrenner, E., Sharpe, L. T., Cremers, F. P. M. & Wissinger, B., 2005, I : European Journal of Human Genetics. 13, 3, s. 302-308

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  42. 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, I : European Journal of Human Genetics. 13, 7, s. 849-855

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  43. 2004
  44. 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, I : European Journal of Human Genetics. 12, 10, s. 787-789

    Forskningsoutput: TidskriftsbidragLetter

  45. 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 andraCroquette, 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, I : European Journal of Human Genetics. 12, 12, s. 993-1000

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  46. 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, I : European Journal of Human Genetics. 12, 8, s. 627-632

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  47. 2003
  48. Finnish and Swedish genotypes and risk of cancer in Sweden

    Kari Hemminki & Xinjun Li, 2003 mar, I : European Journal of Human Genetics. 11, 3, s. 207-209 3 s.

    Forskningsoutput: TidskriftsbidragLetter

  49. 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, I : European Journal of Human Genetics. 11, s. 189-195

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  50. 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, I : European Journal of Human Genetics. 11, s. 906-908

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  51. 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, I : European Journal of Human Genetics. 11, s. 909-910

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  52. Introduction - Public and Professional Policy Committee Guidelines.

    Aymé, S., 2003, I : European Journal of Human Genetics. 11, Suppl. 2, s. 1

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  53. 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, I : European Journal of Human Genetics. 11, s. 903-905

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  54. 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, I : European Journal of Human Genetics. 11, s. 900-902

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

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

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  56. 2002
  57. 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, I : European Journal of Human Genetics. 10, 8, s. 475-483

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  58. 2001
  59. 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, I : European Journal of Human Genetics. 9, 10, s. 773-779

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  60. 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, I : European Journal of Human Genetics. 9, 6, s. 437-444

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift