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Rigshospitalet - a part of Copenhagen University Hospital

Human Molecular Genetics, 0964-6906

Journal

  1. 2019
  2. Published

    Functional Assessment of Variants Associated with Wolfram Syndrome

    Riachi, M., Yilmaz, S., Kurnaz, E., Aycan, Z., Çetinkaya, S., Tranebjærg, L., Rendtorff, N. D., Bitner-Glindzicz, M., Bockenhauer, D. & Hussain, K., 15 Nov 2019, In : Human Molecular Genetics. 28, 22, p. 3815-3824

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Published

    PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome

    Pelet, A., Skopova, V., Steuerwald, U., Baresova, V., Zarhrate, M., Plaza, J-M., Hnizda, A., Krijt, M., Souckova, O., Wibrand, F., Andorsdóttir, G., Joensen, F., Sedlak, D., Bleyer, A. J., Kmoch, S., Lyonnet, S. & Zikanova, M., 15 Nov 2019, In : Human Molecular Genetics. 28, 22, p. 3805-3814 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. 2018
  5. Published

    Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies

    Portnoi, M-F., Dumargne, M-C., Rojo, S., Witchel, S. F., Duncan, A. J., Eozenou, C., Bignon-Topalovic, J., Yatsenko, S. A., Rajkovic, A., Reyes-Mugica, M., Almstrup, K., Fusee, L., Srivastava, Y., Chantot-Bastaraud, S., Hyon, C., Louis-Sylvestre, C., Validire, P., de Malleray Pichard, C., Ravel, C., Christin-Maitre, S., Brauner, R., Rossetti, R., Persani, L., Charreau, E. H., Dain, L., Chiauzzi, V. A., Mazen, I., Rouba, H., Schluth-Bolard, C., MacGowan, S., McLean, W. H. I., Patin, E., Rajpert-De Meyts, E., Jauch, R., Achermann, J. C., Siffroi, J-P., McElreavey, K. & Bashamboo, A., 1 Apr 2018, In : Human Molecular Genetics. 27, 7, p. 1228-1240 13 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  6. Published
  7. Published

    Transcriptome profiling of fetal Klinefelter testis tissue reveals a possible involvement of long non-coding RNAs in gonocyte maturation

    Winge, S. B., Dalgaard, M. D., Jensen, J. M., Graem, N., Schierup, M. H., Juul, A., Rajpert-De Meyts, E. & Almstrup, K., 2018, In : Human Molecular Genetics. 27, 3, p. 430-39

    Research output: Contribution to journalJournal articleResearchpeer-review

  8. 2017
  9. Published

    Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities

    Quintana, A. M., Yu, H-C., Brebner, A., Pupavac, M., Geiger, E. A., Watson, A., Castro, V. L., Cheung, W., Chen, S-H., Watkins, D., Pastinen, T., Skovby, F., Appel, B., Rosenblatt, D. S. & Shaikh, T. H., 1 Aug 2017, In : Human Molecular Genetics. 26, 15, p. 2838-2849 12 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  10. Published

    Discovery of novel heart rate-associated loci using the Exome Chip

    van den Berg, M. E., Warren, H. R., Cabrera, C. P., Verweij, N., Mifsud, B., Haessler, J., Bihlmeyer, N. A., Fu, Y-P., Weiss, S., Lin, H. J., Grarup, N., Li-Gao, R., Pistis, G., Shah, N., Brody, J. A., Müller-Nurasyid, M., Lin, H., Mei, H., Smith, A. V., Lyytikäinen, L-P., Hall, L. M., van Setten, J., Trompet, S., Prins, B. P., Isaacs, A., Radmanesh, F., Marten, J., Entwistle, A., Kors, J. A., Silva, C. T., Alonso, A., Bis, J. C., de Boer, R. A., de Haan, H. G., de Mutsert, R., Dedoussis, G. V., Dominiczak, A. F., Doney, A. S. F., Ellinor, P. T., Eppinga, R. N., Felix, S. B., Guo, X., Hagemeijer, Y., Hansen, T., Harris, T. B., Heckbert, S. R., Huang, P. L., Hwang, S-J., Kähönen, M., Kanters, J. K., Kolcic, I., Launer, L. J., Li, M., Yao, J., Linneberg, A., Liu, S., Macfarlane, P. W., Mangino, M., Morris, A. D., Mulas, A., Murray, A. D., Nelson, C. P., Orrù, M., Padmanabhan, S., Peters, A., Porteous, D. J., Poulter, N., Psaty, B. M., Qi, L., Raitakari, O. T., Rivadeneira, F., Roselli, C., Rudan, I., Sattar, N., Sever, P., Sinner, M. F., Soliman, E. Z., Spector, T. D., Stanton, A. V., Stirrups, K. E., Taylor, K. D., Tobin, M. D., Uitterlinden, A. G., Vaartjes, I., Hoes, A. W., van der Meer, P., Völker, U., Waldenberger, M., Xie, Z., Zoledziewska, M., Tinker, A., Polasek, O., Rosand, J., Jamshidi, Y., van Duijn, C. M., Zeggini, E., Jukema, J. W., Asselbergs, F. W., Samani, N. J., Lehtimäki, T., Gudnason, V., Wilson, J., Lubitz, S. A., Kääb, S., Sotoodehnia, N., Caulfield, M. J., Palmer, C. N. A., Sanna, S., Mook-Kanamori, D. O., Deloukas, P., Pedersen, O., Rotter, J. I., Dörr, M., O'Donnell, C. J., Hayward, C., Arking, D. E., Kooperberg, C., van der Harst, P., Eijgelsheim, M., Stricker, B. H. & Munroe, P. B., 15 Jun 2017, In : Human Molecular Genetics. 26, 12, p. 2346-2363 18 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  11. Published

    Early microgliosis precedes neuronal loss and behavioural impairment in mice with a frontotemporal dementia-causing CHMP2B mutation

    Clayton, E. L., Mancuso, R., Nielsen, T. T., Mizielinska, S., Holmes, H., Powell, N., Norona, F., Overgaard Larsen, J., Milioto, C., Wilson, K. M., Lythgoe, M. F., Ourselin, S., Nielsen, J. E., Johannsen, P., Holm, I., Collinge, J., Frej, A., Oliver, P. L., Gomez-Nicola, D. & Isaacs, A. M., 1 Mar 2017, In : Human Molecular Genetics. p. 873-887

    Research output: Contribution to journalJournal articleResearchpeer-review

  12. Published

    Klinefelter Syndrome Comorbidities Linked to Increased X Chromosome Gene Dosage and Altered Protein Interactome Activity

    Belling, K., Russo, F., Jensen, A. B., Dalgaard, M. D., Westergaard, D., Rajpert-De Meyts, E., Skakkebæk, N. E., Juul, A. & Brunak, S., 2017, In : Human Molecular Genetics. 26, 7, p. 1219-1229 doi: 10.1093/hmg/ddx014.

    Research output: Contribution to journalJournal articleResearchpeer-review

  13. 2016
  14. Published

    Exome genotyping arrays to identify rare and low frequency variants associated with epithelial ovarian cancer risk

    Permuth, J. B., Pirie, A., Ann Chen, Y., Lin, H-Y., Reid, B. M., Chen, Z., Monteiro, A., Dennis, J., Mendoza-Fandino, G., Anton-Culver, H., Bandera, E. V., Bisogna, M., Brinton, L., Brooks-Wilson, A., Carney, M. E., Chenevix-Trench, G., Cook, L. S., Cramer, D. W., Cunningham, J. M., Cybulski, C., D'Aloisio, A. A., Anne Doherty, J., Earp, M., Edwards, R. P., Fridley, B. L., Gayther, S. A., Gentry-Maharaj, A., Goodman, M. T., Gronwald, J., Høgdall, E. V. S., Iversen, E. S., Jakubowska, A., Jensen, A., Karlan, B. Y., Kelemen, L. E., Kjær, S. K., Kraft, P., Le, N. D., Levine, D. A., Lissowska, J., Lubinski, J., Matsuo, K., Menon, U., Modugno, R., Moysich, K. B., Nakanishi, T., Ness, R. B., Olson, S., Orlow, I., Pearce, C. L. & AOCS Study Group, 15 Aug 2016, In : Human Molecular Genetics. 25, 16, p. 3600-3612 13 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  15. Published

    Cytokine genes as potential biomarkers for muscle weakness in OPMD

    Riaz, M., Raz, Y., van der Slujis, B., Dickson, G., van Engelen, B., Vissing, J. & Raz, V., Aug 2016, In : Human Molecular Genetics. 25, 19, p. 4282-4287

    Research output: Contribution to journalJournal articleResearchpeer-review

  16. Published

    Increased steroidogenesis promotes early-onset and severe vision loss in females with OPA1 dominant optic atrophy

    Sarzi, E., Seveno, M., Angebault, C., Milea, D., Rönnbäck, C., Quilès, M., Adrian, M., Grenier, J., Caignard, A., Lacroux, A., Lavergne, C., Reynier, P., Larsen, M., Hamel, C. P., Lenaers, G. & Müller, A., 15 Jun 2016, In : Human Molecular Genetics. 25, 12, p. 2539-2551 13 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  17. Published

    Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms

    de la Hoya, M., Soukarieh, O., López-Perolio, I., Vega, A., Walker, L. C., van Ierland, Y., Baralle, D., Santamariña, M., Lattimore, V., Wijnen, J., Whiley, P., Blanco, A., Raponi, M., Hauke, J., Wappenschmidt, B., Becker, A., Hansen, T. V. O., Behar, R., Investigators, KC., Niederacher, D., Arnold, N., Dworniczak, B., Steinemann, D., Faust, U., Rubinstein, W., Hulick, P. J., Houdayer, C., Caputo, S. M., Castera, L., Pesaran, T., Chao, E., Brewer, C., Southey, M. C., van Asperen, C. J., Singer, C. F., Sullivan, J., Poplawski, N., Mai, P., Peto, J., Johnson, N., Burwinkel, B., Surowy, H., Bojesen, S. E., Flyger, H., Lindblom, A., Margolin, S., Chang-Claude, J., Rudolph, A., Radice, P., Galastri, L., Olson, J. E., Hallberg, E., Giles, G. G., Milne, R. L., Andrulis, I. L., Glendon, G., Hall, P., Czene, K., Blows, F., Shah, M., Wang, Q., Dennis, J., Michailidou, K., McGuffog, L., Bolla, M. K., Antoniou, A. C., Easton, D. F., Couch, F. J., Tavtigian, S., Vreeswijk, M. P., Parsons, M., Meeks, H. D., Martins, A., Goldgar, D. E. & Spurdle, A. B., 1 Jun 2016, In : Human Molecular Genetics. 25, 11, p. 2256-2268 13 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  18. 2015
  19. Published

    Shared genetics underlying epidemiological association between endometriosis and ovarian cancer

    Lu, Y., Cuellar-Partida, G., Painter, J. N., Nyholt, D. R., Morris, A. P., Fasching, P. A., Hein, A., Burghaus, S., Beckmann, M. W., Lambrechts, D., Van Nieuwenhuysen, E., Vergote, I., Vanderstichele, A., Doherty, J. A., Rossing, M. A., Wicklund, K. G., Chang-Claude, J., Eilber, U., Rudolph, A., Wang-Gohrke, S., Goodman, M. T., Bogdanova, N., Dörk, T., Dürst, M., Hillemanns, P., Runnebaum, I. B., Antonenkova, N., Butzow, R., Leminen, A., Nevanlinna, H., Pelttari, L. M., Edwards, R. P., Kelley, J. L., Modugno, F., Moysich, K. B., Ness, R. B., Cannioto, R., Høgdall, E., Jensen, A., Giles, G. G., Bruinsma, F., Kjaer, S. K., Hildebrandt, M. A. T., Liang, D., Lu, K. H., Wu, X., Bisogna, M., Dao, F., Levine, D. A., Cramer, D. W. & Australian Ovarian Cancer Study, 15 Oct 2015, In : Human Molecular Genetics. 24, 20, p. 5955-64 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  20. Published

    Multiple novel prostate cancer susceptibility signals identified by fine-mapping of known risk loci among Europeans

    Amin Al Olama, A., Dadaev, T., Hazelett, D. J., Li, Q., Leongamornlert, D., Saunders, E. J., Stephens, S., Cieza-Borrella, C., Whitmore, I., Benlloch Garcia, S., Giles, G. G., Southey, M. C., Fitzgerald, L., Gronberg, H., Wiklund, F., Aly, M., Henderson, B. E., Schumacher, F., Haiman, C. A., Schleutker, J., Wahlfors, T., Tammela, T. L., Nordestgaard, B. G., Key, T. J., Travis, R. C., Neal, D. E., Donovan, J. L., Hamdy, F. C., Pharoah, P., Pashayan, N., Khaw, K-T., Stanford, J. L., Thibodeau, S. N., Mcdonnell, S. K., Schaid, D. J., Maier, C., Vogel, W., Luedeke, M., Herkommer, K., Kibel, A. S., Cybulski, C., Wokołorczyk, D., Kluzniak, W., Cannon-Albright, L., Brenner, H., Butterbach, K., Arndt, V., Park, J. Y., The PRACTICAL Consortium(Peter Iversen, Martin Andreas Røder, members), Iversen, P. (ed.) & Røder, M. A. (ed.), 1 Oct 2015, In : Human Molecular Genetics. 24, 19, p. 5589-602 14 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  21. Published

    An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase

    Hinttala, R., Sasarman, F., Nishimura, T., Antonicka, H., Brunel-Guitton, C., Schwartzentruber, J., Fahiminiya, S., Majewski, J., Faubert, D., Ostergaard, E., Smeitink, J. A. & Shoubridge, E. A., 15 Jul 2015, In : Human Molecular Genetics. 24, 14, p. 4103-13 11 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  22. Published

    Impact of age, BMI and HbA1c levels on the genome-wide DNA methylation and mRNA expression patterns in human adipose tissue and identification of epigenetic biomarkers in blood

    Rönn, T., Volkov, P., Gillberg, L., Kokosar, M., Perfilyev, A., Jacobsen, A. L., Jørgensen, S. W., Brøns, C., Jansson, P-A., Eriksson, K-F., Pedersen, O., Hansen, T., Groop, L., Stener-Victorin, E., Vaag, A., Nilsson, E. & Ling, C., 1 Jul 2015, In : Human Molecular Genetics. 24, 13, p. 3792-813 22 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  23. 2014
  24. Published

    Analysis of the ABCA4 genomic locus in Stargardt disease

    Zernant, J., Xie, Y. A., Ayuso, C., Riveiro-Alvarez, R., Lopez-Martinez, M-A., Simonelli, F., Testa, F., Gorin, M. B., Strom, S. P., Bertelsen, M., Rosenberg, T., Boone, P. M., Yuan, B., Ayyagari, R., Nagy, P. L., Tsang, S. H., Gouras, P., Collison, F. T., Lupski, J. R., Fishman, G. A. & Allikmets, R., 20 Dec 2014, In : Human Molecular Genetics. 23, 25, p. 6797-806 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  25. Published

    Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia

    Minocherhomji, S., Hansen, C., Kim, H-G., Mang, Y., Bak, M., Guldberg, P., Papadopoulos, N., Eiberg, H., Doh, G. D., Møllgård, K., Hertz, J. M., Nielsen, J. E., Ropers, H-H., Tümer, Z., Tommerup, N., Kalscheuer, V. M. & Silahtaroglu, A., 1 Jul 2014, In : Human Molecular Genetics. 23, 23, p. 6163-6176

    Research output: Contribution to journalJournal articleResearchpeer-review

  26. Rare and private variations in neural crest, apoptosis and sarcomere genes define the polygenic background of isolated Tetralogy of Fallot

    Grunert, M., Dorn, C., Schueler, M., Dunkel, I., Schlesinger, J., Mebus, S., Alexi-Meskishvili, V., Perrot, A., Wassilew, K., Timmermann, B., Hetzer, R., Berger, F. & Sperling, S. R., 15 Jun 2014, In : Human Molecular Genetics. 23, 12, p. 3115-28 14 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  27. 2013
  28. Published

    The cytochrome b p.278Y>C mutation causative of a multisystem disorder enhances superoxide production and alters supramolecular interactions of respiratory chain complexes

    Ghelli, A., Tropeano, C. V., Calvaruso, M. A., Marchesini, A., Iommarini, L., Porcelli, A. M., Zanna, C., De Nardo, V., Martinuzzi, A., Wibrand, F., Vissing, J., Kurelac, I., Gasparre, G., Selamoglu, N., Daldal, F. & Rugolo, M., 1 Jun 2013, In : Human Molecular Genetics. 22, 11, p. 2141-51 11 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  29. Published

    A meta-analysis of genome-wide association studies to identify prostate cancer susceptibility loci associated with aggressive and non-aggressive disease

    Amin Al Olama, A., Kote-Jarai, Z., Schumacher, F. R., Wiklund, F., Berndt, S. I., Benlloch, S., Giles, G. G., Severi, G., Neal, D. E., Hamdy, F. C., Donovan, J. L., Hunter, D. J., Henderson, B. E., Thun, M. J., Gaziano, M., Giovannucci, E. L., Siddiq, A., Travis, R. C., Cox, D. G., Canzian, F., Riboli, E., Key, T. J., Andriole, G., Albanes, D., Hayes, R. B., Schleutker, J., Auvinen, A., Tammela, T. L. J., Weischer, M., Stanford, J. L., Ostrander, E. A., Cybulski, C., Lubinski, J., Thibodeau, S. N., Schaid, D. J., Sorensen, K. D., Batra, J., Clements, J. A., Chambers, S., Aitken, J., Gardiner, R. A., Maier, C., Vogel, W., Dörk, T., Brenner, H., Klarskov, P., Nordestgaard, B. G., Røder, M. A., Frikke-Schmidt, R., Bojesen, S. E. & The UK Genetic Prostate Cancer Study Collaborators/British Association of Urological Surgeons' Section of Oncology, 2013, In : Human Molecular Genetics. 22, 2, p. 408-415 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  30. 2012
  31. Published

    Alterations in expression levels of deafness dystonia protein 1 affect mitochondrial morphology

    Engl, G., Florian, S., Tranebjærg, L. & Rapaport, D., 2012, In : Human Molecular Genetics. 21, 2, p. 287-99 13 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  32. 2011
  33. Published

    Genetic variation in insulin-like growth factor 2 may play a role in ovarian cancer risk

    Pearce, C. L., Doherty, J. A., Van Den Berg, D. J., Moysich, K., Hsu, C., Cushing-Haugen, K. L., Conti, D. V., Ramus, S. J., Gentry-Maharaj, A., Menon, U., Gayther, S. A., Pharoah, P. D. P., Song, H., Kjaer, S. K., Hogdall, E., Hogdall, C., Whittemore, A. S., McGuire, V., Sieh, W., Gronwald, J., Medrek, K., Jakubowska, A., Lubinski, J., Chenevix-Trench, G., Beesley, J., Webb, P. M., Berchuck, A., Schildkraut, J. M., Iversen, E. S., Moorman, P. G., Edlund, C. K., Stram, D. O., Pike, M. C., Ness, R. B., Rossing, M. A., Wu, A. H. & AOCS/ACS Study Group, 1 Jun 2011, In : Human Molecular Genetics. 20, 11, p. 2263-72 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  34. Published

    Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia

    Grau, T., Artemyev, N. O., Rosenberg, T., Dollfus, H., Haugen, O. H., Cumhur Sener, E., Jurklies, B., Andreasson, S., Kernstock, C., Larsen, M., Zrenner, E., Wissinger, B. & Kohl, S., 15 Feb 2011, In : Human Molecular Genetics. 20, 4, p. 719-30 12 p.

    Research output: Contribution to journalJournal articleResearch

  35. Published

    Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

    Antoniou, A. C., Kartsonaki, C., Sinilnikova, O. M., Soucy, P., McGuffog, L., Healey, S., Lee, A. R., Peterlongo, P., Manoukian, S., Peissel, B., Zaffaroni, D., Cattaneo, E., Barile, M., Pensotti, V., Pasini, B., Dolcetti, R., Giannini, G., Putignano, A. L., Varesco, L., Radice, P., Mai, P. L., Greene, M. H., Andrulis, I. L., Glendon, G., Ozcelik, H., Thomassen, M., Gerdes, A-M., Kruse, T. A., Birk Jensen, U., Crüger, D. G., Caligo, M. A., Laitman, Y., Milgrom, R., Kaufman, B., Paluch-Shimon, S., Friedman, E., Loman, N., Harbst, K., Lindblom, A., Arver, B., Ehrencrona, H., Melin, B., Nathanson, K. L., Domchek, S. M., Rebbeck, T., Jakubowska, A., Lubinski, J., Hansen, T. V. O., Jønson, L., Ejlertsen, B. & SWE-BRCA, 2011, In : Human Molecular Genetics. 20, 16, p. 3304-21 18 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  36. Published

    Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers

    Cox, D. G., Simard, J., Sinnett, D., Hamdi, Y., Soucy, P., Ouimet, M., Barjhoux, L., Verny-Pierre, C., McGuffog, L., Healey, S., Szabo, C., Greene, M. H., Mai, P. L., Andrulis, I. L., Thomassen, M., Gerdes, A-M., Caligo, M. A., Friedman, E., Laitman, Y., Kaufman, B., Paluch, S. S., Borg, Å., Karlsson, P. W., Askmalm, M. S., Bustinza, G. B., Nathanson, K. L., Domchek, S. M., Rebbeck, T. R., Benítez, J., Hamann, U., Rookus, M. A., van den Ouweland, A. M. W., Ausems, M. G. E. M., Aalfs, C. M., van Asperen, C. J., Devilee, P., Gille, H. J. J. P., Peock, S., Frost, D., Evans, D. G., Eeles, R., Izatt, L., Adlard, J., Paterson, J., Eason, J., Godwin, A. K., Remon, M-A., Moncoutier, V., Gauthier-Villars, M., Hansen, T. V. O. & Ontario Cancer Genetics Network, 2011, In : Human Molecular Genetics. 20, 23, p. 4732-47 16 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  37. 2010
  38. Published

    Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations

    Urwin, H., Authier, A., Nielsen, J. E., Metcalf, D., Powell, C., Froud, K., Malcolm, D. S., Holm, I., Johannsen, P., Brown, J., Fisher, E. M. C., van der Zee, J., Bruyland, M., Van Broeckhoven, C., Collinge, J., Brandner, S., Futter, C., Isaacs, A. M. & FReJA Consortium, 1 Jun 2010, In : Human Molecular Genetics. 19, 11, p. 2228-38 11 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  39. Published

    The idic(X)(q13) in myeloid malignancies: breakpoint clustering in segmental duplications and association with TET2 mutations

    Paulsson, K., Haferlach, C., Fonatsch, C., Hagemeijer, A., Andersen, M. K., Slovak, M. L., Johansson, B. & MDS Foundation, 15 Apr 2010, In : Human Molecular Genetics. 19, 8, p. 1507-14 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  40. 2009
  41. Published

    Association of HY-restricting HLA class II alleles with pregnancy outcome in patients with recurrent miscarriage subsequent to a firstborn boy

    Nielsen, H. S., Steffensen, R., Varming, K., Van Halteren, A. G. S., Spierings, E., Ryder, L. P., Goulmy, E. & Christiansen, O. B., 1 May 2009, In : Human Molecular Genetics. 18, 9, p. 1684-91 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  42. 2007
  43. Published

    Heterozygosity of mannose-binding lectin (MBL2) genotypes predicts advantage (heterosis) in relation to fatal outcome in intensive care patients

    Hellemann, D., Larsson, L. A. S., Madsen, H. O., Bonde, J., Jarløv, J. O., Wiis, J., Faber, T., Wetterslev, J. & Garred, P., 15 Dec 2007, In : Human Molecular Genetics. 16, 24, p. 3071-80 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  44. 2005
  45. Published

    Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes

    Duchatelet, S., Ostergaard, E., Cortes, D., Lemainque, A. & Julier, C., 1 Jan 2005, In : Human Molecular Genetics. 14, 1, p. 1-5 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

ID: 83639