Research
Print page Print page
Switch language
The Capital Region of Denmark - a part of Copenhagen University Hospital

European Journal of Human Genetics, 1018-4813

Journal

  1. 2019
  2. Published
  3. Published

    Haploinsufficiency of ARHGAP42 is associated with hypertension

    Fjorder, A. S., Rasmussen, M. B., Mehrjouy, M. M., Nazaryan-Petersen, L., Hansen, C., Bak, M., Grarup, N., Nørremølle, A., Larsen, L. A., Vestergaard, H., Hansen, T., Tommerup, N. & Bache, I., 1 Aug 2019, In : European journal of human genetics : EJHG. 27, 8, p. 1296-1303 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Published

    Correction: Educational delay and attainment in persons with neurofibromatosis 1 in Denmark

    Doser, K., Kenborg, L., Andersen, E. W., Bidstrup, P. E., Kroyer, A., Hove, H., Østergaard, J., Sørensen, S. A., Johansen, C., Mulvihill, J., Winther, J. F. & Dalton, S. O., Jun 2019, In : European journal of human genetics : EJHG. 27, 6, p. 994-996 3 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. E-pub ahead of print

    Immunity and mental illness: findings from a Danish population-based immunogenetic study of seven psychiatric and neurodevelopmental disorders

    Nudel, R., Benros, M. E., Krebs, M. D., Allesøe, R. L., Lemvigh, C. K., Bybjerg-Grauholm, J., Børglum, A. D., Daly, M. J., Nordentoft, M., Mors, O., Hougaard, D. M., Mortensen, P. B., Buil, A., Werge, T., Rasmussen, S. & Thompson, W. K., 11 Apr 2019, In : European journal of human genetics : EJHG.

    Research output: Contribution to journalJournal articleResearchpeer-review

  6. Published

    The Global State of the Genetic Counseling Profession

    Abacan, M., Alsubaie, L., Barlow-Stewart, K., Caanen, B., Cordier, C., Courtney, E., Davoine, E., Edwards, J., Elackatt, N. J., Gardiner, K., Guan, Y., Huang, L-H., Malmgren, C. I., Kejriwal, S., Kim, H. J., Lambert, D., Lantigua-Cruz, P. A., Lee, J. M. H., Lodahl, M., Lunde, Å., Macaulay, S., Macciocca, I., Margarit, S., Middleton, A., Moldovan, R., Ngeow, J., Obregon-Tito, A. J., Ormond, K. E., Paneque, M., Powell, K., Sanghavi, K., Scotcher, D., Scott, J., Juhé, C. S., Shkedi-Rafid, S., Wessels, T-M., Yoon, S-Y. & Wicklund, C., Feb 2019, In : European journal of human genetics : EJHG. 27, 2, p. 183-197 15 p.

    Research output: Contribution to journalReviewResearchpeer-review

  7. Published

    Genome-wide association meta-analysis of 30,000 samples identifies seven novel loci for quantitative ECG traits

    van Setten, J., Verweij, N., Mbarek, H., Niemeijer, M. N., Trompet, S., Arking, D. E., Brody, J. A., Gandin, I., Grarup, N., Hall, L. M., Hemerich, D., Lyytikäinen, L-P., Mei, H., Müller-Nurasyid, M., Prins, B. P., Robino, A., Smith, A. V., Warren, H. R., Asselbergs, F. W., Boomsma, D. I., Caulfield, M. J., Eijgelsheim, M., Ford, I., Hansen, T., Harris, T. B., Heckbert, S. R., Hottenga, J-J., Iorio, A., Kors, J. A., Linneberg, A., MacFarlane, P. W., Meitinger, T., Nelson, C. P., Raitakari, O. T., Silva Aldana, C. T., Sinagra, G., Sinner, M., Soliman, E. Z., Stoll, M., Uitterlinden, A., van Duijn, C. M., Waldenberger, M., Alonso, A., Gasparini, P., Gudnason, V., Jamshidi, Y., Kääb, S., Kanters, J. K., Lehtimäki, T., Munroe, P. B., Peters, A., Samani, N. J., Sotoodehnia, N., Ulivi, S., Wilson, J. G., de Geus, E. J. C., Jukema, J. W., Stricker, B., van der Harst, P., de Bakker, P. I. W. & Isaacs, A., 2019, In : European journal of human genetics : EJHG. 27, 6, p. 952-962 11 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  8. Published
  9. 2018
  10. Published

    Estimating the age of p.(Phe508del) with family studies of geographically distinct European populations and the early spread of cystic fibrosis

    Farrell, P., Férec, C., Macek, M., Frischer, T., Renner, S., Riss, K., Barton, D., Repetto, T., Tzetis, M., Giteau, K., Duno, M., Rogers, M., Levy, H., Sahbatou, M., Fichou, Y., Le Maréchal, C. & Génin, E., Dec 2018, In : European journal of human genetics : EJHG. 26, 12, p. 1832-1839 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  11. Published

    A Faroese founder variant in TBCD causes early onset, progressive encephalopathy with a homogenous clinical course

    Grønborg, S., Risom, L., Ek, J., Larsen, K. B., Scheie, D., Petkov, Y., Larsen, V. A., Dunø, M., Joensen, F. & Østergaard, E., Oct 2018, In : European journal of human genetics : EJHG. 26, 10, p. 1512-1520 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  12. Published
  13. Published

    Molecular genetic overlap between migraine and major depressive disorder

    International Headache Genetics Consortium, Yang, Y., Zhao, H., Boomsma, D. I., Ligthart, L., Belin, A. C., Smith, G. D., Esko, T., Freilinger, T. M., Hansen, T. F., Ikram, M. A., Kallela, M., Kubisch, C., Paraskevi, C., Strachan, D. P., Wessman, M., van den Maagdenberg, A. M. J. M., Terwindt, G. M., Nyholt, D. R., Olesen, J. & Esserlind, A-L., Aug 2018, In : European journal of human genetics : EJHG. p. 1202-1216 15 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  14. Published

    Next-generation sequencing of AV nodal reentrant tachycardia patients identifies broad spectrum of variants in ion channel genes

    Andreasen, L., Ahlberg, G., Tang, C., Andreasen, C., Hartmann, J. P., Tfelt-Hansen, J., Behr, E. R., Pehrson, S., Haunsø, S., LuCamp, L., Weeke, P. E., Jespersen, T., Olesen, M. S. & Svendsen, J. H., May 2018, In : European journal of human genetics : EJHG. 26, 5, p. 660-668 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  15. Published

    Genetic determinants of glycated hemoglobin levels in the Greenlandic Inuit population

    Appel, E. V. R., Moltke, I., Jørgensen, M. E., Bjerregaard, P., Linneberg, A., Pedersen, O., Albrechtsen, A., Hansen, T. & Grarup, N., 26 Feb 2018, In : European journal of human genetics : EJHG. 26, p. 868-675 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  16. Published

    Novel variants in Nordic patients referred for genetic testing of telomere-related disorders

    Norberg, A., Rosén, A., Raaschou-Jensen, K., Kjeldsen, L., Moilanen, J. S., Paulsson-Karlsson, Y., Baliakas, P., Lohi, O., Ahmed, A., Kittang, A. O., Larsson, P., Roos, G., Degerman, S. & Hultdin, M., 26 Feb 2018, In : European journal of human genetics : EJHG. 26, 6, p. 858-867 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  17. 2016
  18. Published

    Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy

    Rudolf, G., Lesca, G., Mehrjouy, M. M., Labalme, A., Salmi, M., Bache, I., Bruneau, N., Pendziwiat, M., Fluss, J., de Bellescize, J., Scholly, J., Møller, R. S., Craiu, D., Tommerup, N., Valenti-Hirsch, M. P., Schluth-Bolard, C., Sloan-Béna, F., Helbig, K. L., Weckhuysen, S., Edery, P., Coulbaut, S., Abbas, M., Scheffer, I. E., Tang, S., Myers, C. T., Stamberger, H., Carvill, G. L., Shinde, D. N., Mefford, H. C., Neagu, E., Huether, R., Lu, H-M., Dica, A., Cohen, J. S., Iliescu, C., Pomeran, C., Rubenstein, J., Helbig, I., Sanlaville, D., Hirsch, E. & Szepetowski, P., Dec 2016, In : European journal of human genetics : EJHG. 24, 12, p. 1761-1770 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  19. Published

    Rare novel variants in the ZIC3 gene cause X-linked heterotaxy

    Paulussen, A. D. C., Steyls, A., Vanoevelen, J., van Tienen, F. H., Krapels, I. P. C., Claes, G. R., 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., Dec 2016, In : European journal of human genetics : EJHG. 24, 12, p. 1783-1791 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  20. Published

    Genetic investigation of 100 heart genes in sudden unexplained death victims in a forensic setting

    Christiansen, S. L., Hertz, C. L., Ferrero-Miliani, L., Dahl, M., Weeke, P. E., LuCamp, L., Ottesen, G. L., Frank-Hansen, R., Bundgaard, H. & Morling, N., 21 Sep 2016, In : European Journal of Human Genetics. 24, p. 1797-1802

    Research output: Contribution to journalJournal articleResearchpeer-review

  21. Published

    Plakophilin-2 c.419C>T and risk of heart failure and arrhythmias in the general population

    Christensen, A. H., Kamstrup, P. R., Gandjbakhch, E., Benn, M., Jensen, J. S., Bundgaard, H., Villard, E. & Tybjærg-Hansen, A., 12 Aug 2016, In : European Journal of Human Genetics. 24, p. 732-738 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  22. Published

    Genetic investigations of sudden unexpected deaths in infancy using next-generation sequencing of 100 genes associated with cardiac diseases

    Hertz, C. L., Christiansen, S. L., Larsen, M. K., Dahl, M., Ferrero-Miliani, L., Weeke, P. E., Pedersen, O., Hansen, T., Grarup, N., Ottesen, G. L., Frank-Hansen, R., Banner, J. & Morling, N., Jun 2016, In : European Journal of Human Genetics. 24, 6, p. 817-22 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  23. Published

    EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome

    Eggermann, K., Bliek, J., Brioude, F., Algar, E., Buiting, K., Russo, S., Tümer, Z., Monk, D., Moore, G., Antoniadi, T., Macdonald, F., Netchine, I., Lombardi, P., Soellner, L., Begemann, M., Prawitt, D., Maher, E. R., Mannens, M., Riccio, A., Weksberg, R., Lapunzina, P., Grønskov, K., Mackay, D. J. & Eggermann, T., 11 May 2016, In : European journal of human genetics : EJHG. 24, p. 1377–1387

    Research output: Contribution to journalJournal articleResearchpeer-review

  24. Copy number variation of scavenger-receptor cysteine-rich domains within DMBT1 and Crohn's disease

    Polley, S., Prescott, N., Nimmo, E., Veal, C., Vind, I., Munkholm, P., Fode, P., Mansfield, J., Skyt Andersen, P., Satsangi, J., C G Mathew & Hollox, E. J., 27 Jan 2016, In : European journal of human genetics : EJHG. p. 1-7

    Research output: Contribution to journalJournal articleResearchpeer-review

  25. Published

    An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients

    Bonnet, C., Riahi, Z., Chantot-Bastaraud, S., Smagghe, L., Letexier, M., Marcaillou, C., Lefèvre, G. M., Hardelin, J-P., El-Amraoui, A., Singh-Estivalet, A., Mohand-Saïd, S., Kohl, S., Kurtenbach, A., Sliesoraityte, I., Zobor, D., Gherbi, S., Testa, F., Simonelli, F., Banfi, S., Fakin, A., Glavač, D., Jarc-Vidmar, M., Zupan, A., Battelino, S., Martorell Sampol, L., Claveria, M. A., Catala Mora, J., Dad, S., Møller, L. B., Rodriguez Jorge, J., Hawlina, M., Auricchio, A., Sahel, J-A., Marlin, S., Zrenner, E., Audo, I. & Petit, C., 2016, In : European journal of human genetics : EJHG. 24, 12, p. 1730-38

    Research output: Contribution to journalJournal articleResearchpeer-review

  26. Published

    Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark

    Astuti, G. D. N., Bertelsen, M., Preising, M. N., Ajmal, M., Lorenz, B., Faradz, S. M. H., Qamar, R., Collin, R. W. J., Rosenberg, T. & Cremers, F. P. M., 2016, In : European journal of human genetics : EJHG. 24, 7, p. 1071-9

    Research output: Contribution to journalJournal articleResearchpeer-review

  27. Preferences for prenatal tests for Down syndrome: an international comparison of the views of pregnant women and health professionals

    Petersen, O. B., 2016, In : European Journal of Human Genetics. 24, p. 968-975 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  28. Published

    Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling

    Eggermann, T., Brioude, F., Russo, S., Lombardi, M. P., Bliek, J., Maher, E. R., Larizza, L., Prawitt, D., Netchine, I., Gonzales, M., Grønskov, K., Tümer, Z., Monk, D., Mannens, M., Chrzanowska, K., Walasek, M. K., Begemann, M., Soellner, L., Eggermann, K., Tenorio, J., Nevado, J., Moore, G. E., Mackay, D. J., Temple, K., Gillessen-Kaesbach, G., Ogata, T., Weksberg, R., Algar, E. & Lapunzina, P., 2016, In : European journal of human genetics : EJHG. 24, p. 784-793

    Research output: Contribution to journalJournal articleResearchpeer-review

  29. 2015
  30. Published

    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., van El, C. G., Cornel, M. C. & European Society of Human Genetics, Nov 2015, In : European journal of human genetics : EJHG. 23, 11, p. 1438-50 13 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  31. Published

    Genetic characterization of blood spot-derived DNA from 209 individuals known to carry 22q11Del reveals a new nested deletion

    Sparsø, T. H., Jun 2015, In : European journal of human genetics : EJHG. PS09.003

    Research output: Contribution to journalConference abstract in journalResearchpeer-review

  32. The FSHB -211G>T variant attenuates serum FSH levels in the supraphysiological gonadotropin setting of Klinefelter syndrome

    Busch, A. S., Tüttelmann, F., Zitzmann, M., Kliesch, S. & Gromoll, J., May 2015, In : European journal of human genetics : EJHG. 23, 5, p. 700-3 4 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  33. Published

    Improving accuracy of rare variant imputation with a two-step imputation approach

    Kreiner-Møller, E., Medina-Gomez, C., Uitterlinden, A. G., Rivadeneira, F. & Estrada, K., Mar 2015, In : European journal of human genetics : EJHG. 23, 3, p. 395-400 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  34. Published

    EIF3G is associated with narcolepsy across ethnicities

    Holm, A., Lin, L., Faraco, J., Mostafavi, S., Battle, A., Zhu, X., Levinson, D. F., Han, F., Gammeltoft, S., Jennum, P., Mignot, E. & Kornum, B. R., 11 Feb 2015, In : European journal of human genetics : EJHG. 23, 11, p. 1573-80

    Research output: Contribution to journalJournal articleResearchpeer-review

  35. Published

    Identity-by-descent mapping in a Scandinavian multiple sclerosis cohort

    Westerlind, H., Imrell, K., Ramanujam, R., Myhr, K-M., Celius, E. G., Harbo, H. F., Oturai, A. B., Hamsten, A., Alfredsson, L., Olsson, T., Kockum, I., Koski, T. & Hillert, J., 2015, In : European journal of human genetics : EJHG. 23, p. 688-92

    Research output: Contribution to journalJournal articleResearchpeer-review

  36. Published

    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., van El, C. G. & Cornel, M. C., 2015, In : European journal of human genetics : EJHG. p. 1-3

    Research output: Contribution to journalJournal articleResearchpeer-review

  37. Published

    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, S. P., Pfeufer, A., Schmidtke, J., Skirton, H., Tranebjærg, L. & Rogowski, W. H., 2015, In : European journal of human genetics : EJHG. 23, 6, p. 729-35

    Research output: Contribution to journalJournal articleResearchpeer-review

  38. 2014
  39. Published

    Brugada syndrome risk loci seem protective against atrial fibrillation

    Andreasen, L., Nielsen, J. B., Darkner, S., Christophersen, I. E., Jabbari, J., Refsgaard, L., Thiis, J. J., Sajadieh, A., Tveit, A., Haunsø, S., Svendsen, J. H., Schmitt, N. & Olesen, M. S., Dec 2014, In : European journal of human genetics : EJHG. 22, 12, p. 1357-61 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  40. Published
  41. Published

    Intragenic deletions affecting two alternative transcripts of the IMMP2L gene in patients with Tourette syndrome

    Bertelsen, B., Melchior, L., Jensen, L. R., Groth, C., Glenthøj, B., Rizzo, R., Debes, N. M., Skov, L., Brøndum-Nielsen, K., Paschou, P., Silahtaroglu, A. & Tümer, Z., Nov 2014, In : European journal of human genetics : EJHG. 22, 11, p. 1283-9 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  42. Published

    Atrial fibrillation: the role of common and rare genetic variants

    Olesen, M. S., Nielsen, M. W., Haunsø, S. & Svendsen, J. H., Mar 2014, In : European journal of human genetics : EJHG. 22, 3, p. 297-306 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  43. Published

    Clinical utility gene card for Oculocutaneous albinism

    Grønskov, K., Brøndum-Nielsen, K., Lorenz, B. & Preising, M. N., 2014, In : European journal of human genetics : EJHG. 22, p. e

    Research output: Contribution to journalJournal articleResearchpeer-review

  44. Published

    Occipital horn syndrome and classical Menkes syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon

    Yasmeen, S., Lund, K., De Paepe, A., De Bie, S., Heiberg, A., Silva, J. J. E., Martins, M., Skjørringe, T. & Møller, L. B., 2014, In : European journal of human genetics : EJHG. 22, p. 517-21

    Research output: Contribution to journalJournal articleResearchpeer-review

  45. 2013
  46. Published

    New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants

    Andreasen, C. H., Nielsen, J. B., Refsgaard, L., Holst, A. G., Christensen, A. H., Andreasen, L., Sajadieh, A., Haunsø, S., Svendsen, J. H. & Olesen, M. S., Sep 2013, In : European journal of human genetics : EJHG. 21, 9, p. 918-28 11 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  47. Published

    Whole-genome sequencing in health care: recommendations of the European Society of Human Genetics

    van El, C. G., Cornel, M. C., Borry, P., Hastings, R. J., Fellmann, F., Hodgson, S. V., Howard, H. C., Cambon-Thomsen, A., Knoppers, B. M., Meijers-Heijboer, H., Scheffer, H., Tranebjaerg, L., Dondorp, W., de Wert, G. M. W. R. & ESHG Public and Professional Policy Committee, Jun 2013, In : European journal of human genetics : EJHG. 21, 6, p. 580-4 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  48. Published

    Developing a policy for paediatric biobanks: principles for good practice

    Hens, K., Van El, C. E., Borry, P., Cambon-Thomsen, A., Cornel, M. C., Forzano, F., Lucassen, A., Patch, C., Tranebjaerg, L., Vermeulen, E., Salvaterra, E., Tibben, A., Dierickx, K. & PPPC of the European Society of Human Genetics, Jan 2013, In : European journal of human genetics : EJHG. 21, 1, p. 2-7 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  49. Published

    Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2

    Vinther-Jensen, T., Ek, J., Duno, M., Skovby, F., Hjermind, L. E., Nielsen, J. E. & Nielsen, T. T., 2013, In : European Journal of Human Genetics. 21, p. 626-629

    Research output: Contribution to journalJournal articleResearchpeer-review

  50. 2012
  51. Published

    Clinical utility gene card for: Phenylketonuria

    Zschocke, J., Haverkamp, T. & Møller, L. B., 2012, In : European Journal of Human Genetics. 20, 2

    Research output: Contribution to journalJournal articleResearchpeer-review

  52. Published

    Discrepancies in reporting the CAG repeat lengths for Huntington's disease

    Quarrell, O. W., Handley, O., O'Donovan, K., Dumoulin, C., Ramos-Arroyo, M., Biunno, I., Bauer, P., Kline, M., Landwehrmeyer, G. B., European Huntington’s Disease Network, Hjermind, L. E. & Nielsen, J. E., 2012, In : European Journal of Human Genetics. 20, 1, p. 20-6 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  53. Published

    Expression QTL analysis of top loci from GWAS meta-analysis highlights additional schizophrenia candidate genes

    de Jong, S., van Eijk, K. R., Zeegers, D. W. L. H., Strengman, E., Janson, E., Veldink, J. H., van den Berg, L. H., Cahn, W., Kahn, R. S., Boks, M. P. M., Ophoff, R. A. & PGC Schizophrenia (GWAS) Consortium, 2012, In : European Journal of Human Genetics. 20, 9, p. 1004-8 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  54. Published

    Haploinsufficiency of CELF4 at 18q12.2 is associated with developmental and behavioral disorders, seizures, eye manifestations, and obesity

    Halgren, C., Bache, I., Bak, M., Myatt, M. W., Anderson, C. M., Brøndum-Nielsen, K. & Tommerup, N., 2012, In : European Journal of Human Genetics. 20, 12, p. 1315-9 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  55. Published

    High prevalence of genetic variants previously associated with LQT syndrome in new exome data

    Refsgaard, L., Holst, A. G., Sadjadieh, G., Haunsø, S., Nielsen, J. B. & Olesen, M. S., 2012, In : European Journal of Human Genetics. 20, 8, p. 905-8 4 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  56. Published

    No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith-Wiedemann Syndrome

    Boonen, S. E., Hahnemann, J. M. D., Mackay, D., Tommerup, N., Brøndum-Nielsen, K., Tümer, Z. & Grønskov, K., 2012, In : European Journal of Human Genetics. 20, 1, p. 119-21 3 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  57. Published

    Polymorphisms in the P2X7 receptor gene are associated with low lumbar spine bone mineral density and accelerated bone loss in post-menopausal women

    Gartland, A., Skarratt, K. K., Hocking, L. J., Parsons, C., Stokes, L., Jørgensen, N. R., Fraser, W. D., Reid, D. M., Gallagher, J. A. & Wiley, J. S., 2012, In : European Journal of Human Genetics.

    Research output: Contribution to journalJournal articleResearchpeer-review

Previous 1 2 Next

ID: 87506