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Rigshospitalet - a part of Copenhagen University Hospital

Human Mutation, ‎1059-7794

Journal

  1. 2021
  2. Published

    Myopathy can be a key phenotype of membrin (GOSR2) deficiency

    Stemmerik, M. G., Borch, J. D. S., Dunø, M., Krag, T. & Vissing, J., Sep 2021, In: Human Mutation. 42, 9, p. 1101-1106 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. 2020
  4. Published

    Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A)

    Kaur, S., Van Bergen, N. J., Verhey, K. J., Nowell, C. J., Budaitis, B., Yue, Y., Ellaway, C., Brunetti-Pierri, N., Cappuccio, G., Bruno, I., Boyle, L., Nigro, V., Torella, A., Roscioli, T., Cowley, M. J., Massey, S., Sonawane, R., Burton, M. D., Schonewolf-Greulich, B., Tümer, Z., Chung, W. K., Gold, W. A. & Christodoulou, J., 1 Oct 2020, In: Human Mutation. 41, 10, p. 1761-1774 14 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Published

    A single c.1715G>C calpain 3 gene variant causes dominant calpainopathy with loss of calpain 3 expression and activity

    Vissing, J., Dahlqvist, J. R., Roudaut, C., Poupiot, J., Richard, I., Duno, M. & Krag, T., Sep 2020, In: Human Mutation. 41, 9, p. 1507-1513 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  6. Published

    From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria

    Zielonka, M., Garbade, S. F., Gleich, F., Okun, J. G., Nagamani, S. C. S., Gropman, A. L., Hoffmann, G. F., Kölker, S., Posset, R., Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group & Lund, A. M., May 2020, In: Human Mutation. 41, 5, p. 946-960 15 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  7. Published

    Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy

    Bryen, S. J., Ewans, L., Pinner, J., MacLennan, S. C., Donkervoort, S., Castro, D., Töpf, A., O'Grady, G., Cummings, B., Chao, K. R., Weisburd, B., Francioli, L., Faiz, F., Bournazos, A. M., Hu, Y., Malicki, D. M., Doyle, H., Witting, N., Vissing, J., Claeys, K. G., Urankar, K., Beleza-Meireles, A., Baptista, J., Ellard, S., Majumdar, A., Straub, V., Bonnemann, C., MacArthur, D. G., Davis, M. R. & Cooper, S. T., 1 Feb 2020, In: Human Mutation. 41, 2, p. 403-411 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  8. 2019
  9. Published

    Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

    kConFab investigators, Sep 2019, In: Human Mutation. 40, 9, p. 1557-1578 22 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  10. Published

    Multigenic truncation of the semaphorin-plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndrome

    Nazaryan-Petersen, L., Oliveira, I. R., Mehrjouy, M. M., Mendez, J. M. M., Bak, M., Bugge, M., Kalscheuer, V. M., Bache, I., Hancks, D. C. & Tommerup, N., Aug 2019, In: Human Mutation. 40, 8, p. 1057-1062 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  11. Published

    Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene

    Felden, J., Baumann, B., Ali, M., Audo, I., Ayuso, C., Bocquet, B., Casteels, I., Garcia-Sandoval, B., Jacobson, S. G., Jurklies, B., Kellner, U., Kessel, L., Lorenz, B., McKibbin, M., Meunier, I., de Ravel, T., Rosenberg, T., Rüther, K., Vadala, M., Wissinger, B., Stingl, K. & Kohl, S., Aug 2019, In: Human Mutation. 40, 8, p. 1145-1155 11 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  12. Published

    Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies

    Bachmann, C., Noreen, F., Voermans, N. C., Schär, P. L., Vissing, J., Fock, J. M., Bulk, S., Kusters, B., Moore, S. A., Beggs, A. H., Mathews, K. D., Meyer, M., Genetti, C. A., Meola, G., Cardani, R., Mathews, E., Jungbluth, H., Muntoni, F., Zorzato, F. & Treves, S., 1 Jul 2019, In: Human Mutation. 40, 7, p. 962-974 13 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  13. Published

    Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy

    Silva, R. S., Arno, G., Cipriani, V., Pontikos, N., Defoort-Dhellemmes, S., Kalhoro, A., Carss, K. J., Raymond, F. L., Dhaenens, C. M., Jensen, H., Rosenberg, T., van Heyningen, V., Moore, A. T., Puech, B. & Webster, A. R., May 2019, In: Human Mutation. 40, 5, p. 578-587 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  14. Published

    Toward mechanistic models for genotype-phenotype correlations in phenylketonuria using protein stability calculations

    Scheller, R., Stein, A., Nielsen, S. V., Marin, F. I., Gerdes, A-M., Di Marco, M., Papaleo, E., Lindorff-Larsen, K. & Hartmann-Petersen, R., 1 Apr 2019, In: Human Mutation. 40, 4, p. 444-457 14 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  15. 2018
  16. Published

    BRCA1 and BRCA2 5' noncoding region variants identified in breast cancer patients alter promoter activity and protein binding

    ENIGMA consortium, Dec 2018, In: Human Mutation. 39, 12, p. 2025-2039 15 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  17. Published

    A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3

    Schepers, D., Tortora, G., Morisaki, H., MacCarrick, G., Lindsay, M., Liang, D., Mehta, S. G., Hague, J., Verhagen, J., van de Laar, I., Wessels, M., Detisch, Y., van Haelst, M., Baas, A., Lichtenbelt, K., Braun, K., van der Linde, D., Roos-Hesselink, J., McGillivray, G., Meester, J., Maystadt, I., Coucke, P., El-Khoury, E., Parkash, S., Diness, B., Risom, L., Scurr, I., Hilhorst-Hofstee, Y., Morisaki, T., Richer, J., Désir, J., Kempers, M., Rideout, A. L., Horne, G., Bennett, C., Rahikkala, E., Vandeweyer, G., Alaerts, M., Verstraeten, A., Dietz, H., Van Laer, L. & Loeys, B., May 2018, In: Human Mutation. 39, 5, p. 621-634 14 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  18. Published

    The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity

    kConFab/AOCS Investigators, May 2018, In: Human Mutation. 39, 5, p. 729-741 13 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  19. Published

    Structural and sequence variants in patients with Silver-Russell syndrome or similar features-Curation of a disease database

    Tümer, Z., López-Hernández, J. A., Netchine, I., Elbracht, M., Grønskov, K., Gede, L. B., Sachwitz, J., den Dunen, J. T. & Eggermann, T., Mar 2018, In: Human Mutation. 39, 3, p. 345-364

    Research output: Contribution to journalJournal articleResearchpeer-review

  20. Published

    Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations

    Rebbeck, T. R., Friebel, T. M., Friedman, E., Hamann, U., Huo, D., Kwong, A., Olah, E., Olopade, O. I., Solano, A. R., Teo, S-H., Thomassen, M., Weitzel, J. N., Chan, T. L., Couch, F. J., Goldgar, D. E., Kruse, T. A., Palmero, E. I., Park, S. K., Torres, D., van Rensburg, E. J., McGuffog, L., Parsons, M. T., Leslie, G., Aalfs, C. M., Abugattas, J., Adlard, J., Agata, S., Aittomäki, K., Andrews, L., Andrulis, I. L., Arason, A., Arnold, N., Arun, B. K., Asseryanis, E., Auerbach, L., Azzollini, J., Balmaña, J., Barile, M., Barkardottir, R. B., Barrowdale, D., Benitez, J., Berger, A., Berger, R., Blanco, A. M., Blazer, K. R., Blok, M. J., Ejlertsen, B., Gerdes, A-M., Nielsen, F. C., Schmidt, A. Y. & EMBRACE, 2018, In: Human Mutation. 39, 5, p. 593-620

    Research output: Contribution to journalJournal articleResearchpeer-review

  21. 2017
  22. Published

    Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia

    Astuti, D., Sabir, A., Fulton, P., Zatyka, M., Williams, D., Hardy, C., Milan, G., Favaretto, F., Yu-Wai-Man, P., Rohayem, J., López de Heredia, M., Hershey, T., Tranebjaerg, L., Chen, J-H., Chaussenot, A., Nunes, V., Marshall, B., McAfferty, S., Tillmann, V., Maffei, P., Paquis-Flucklinger, V., Geberhiwot, T., Mlynarski, W., Parkinson, K., Picard, V., Bueno, G. E., Dias, R., Arnold, A., Richens, C., Paisey, R., Urano, F., Semple, R., Sinnott, R. & Barrett, T. G., Jul 2017, In: Human Mutation. 38, 7, p. 764-777 14 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  23. 2016
  24. Published

    Classification of Missense Variants in XRCC2 by Functional Analysis: Implications for Breast Cancer Association Studies

    Hansen, T. V. O., Sep 2016, In: Human Mutation. 37, 9, p. 833

    Research output: Contribution to journalComment/debateResearchpeer-review

  25. Published

    Germline Chromothripsis Driven by L1-Mediated Retrotransposition and Alu/Alu Homologous Recombination

    Nazaryan-Petersen, L., Bertelsen, B., Bak, M., Jønson, L., Tommerup, N., Hancks, D. C. & Tümer, Z., Apr 2016, In: Human Mutation. 37, 4, p. 385-95 11 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  26. Published

    Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

    Huang, L., Vanstone, M. R., Hartley, T., Osmond, M., Barrowman, N., Allanson, J., Baker, L., Dabir, T. A., Dipple, K. M., Dobyns, W. B., Estrella, J., Faghfoury, H., Favaro, F. P., Goel, H., Gregersen, P. A., Gripp, K. W., Grix, A., Guion-Almeida, M-L., Harr, M. H., Hudson, C., Hunter, A. G. W., Johnson, J., Joss, S. K., Kimball, A., Kini, U., Kline, A. D., Lauzon, J., Lildballe, D. L., López-González, V., Martinezmoles, J., Meldrum, C., Mirzaa, G. M., Morel, C. F., Morton, J. E. V., Pyle, L. C., Quintero-Rivera, F., Richer, J., Scheuerle, A. E., Schönewolf-Greulich, B., Shears, D. J., Silver, J., Smith, A. C., Temple, I. K., van de Kamp, J. M., van Dijk, F. S., Vandersteen, A. M., White, S. M., Zackai, E. H., Zou, R., Consortium, CR. C. & UCLA Clinical Genomics Center, 2016, In: Human Mutation. 37, 2, p. 148-54

    Research output: Contribution to journalJournal articleResearchpeer-review

  27. 2015
  28. Published

    Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation

    Addis, L., Ahn, J. W., Dobson, R., Dixit, A., Ogilvie, C. M., Pinto, D., Vaags, A. K., Coon, H., Chaste, P., Wilson, S., Parr, J. R., Andrieux, J., Lenne, B., Tümer, Z., Leuzzi, V., Aubell, K., Koillinen, H., Curran, S., Marshall, C. R., Scherer, S. W., Strug, L. J., Collier, D. A. & Pal, D. K., Sep 2015, In: Human Mutation. 36, 9, p. 842-50 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  29. 2014
  30. Published

    Structural genomic variation as risk factor for idiopathic recurrent miscarriage

    Nagirnaja, L., Palta, P., Kasak, L., Rull, K., Christiansen, O. B., Nielsen, H. S., Steffensen, R., Esko, T., Remm, M. & Laan, M., Aug 2014, In: Human Mutation. 35, 8, p. 972-82 11 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  31. Published

    Cadherin 5 is Regulated by Corticosteroids and Associated with Central Serous Chorioretinopathy

    Schubert, C., Pryds, A., Zeng, S., Xie, Y., Bailey Freund, K., Spaide, R. F., Merriam, J. C., Barbazetto, I., Slakter, J. S., Chang, S., Munch, I. C., Drack, A. V., Hernandez, J., Yzer, S., Merriam, J. E., Linneberg, A., Larsen, M., Yannuzzi, L. A., Mullins, R. F. & Allikmets, R., 24 Mar 2014, In: Human Mutation. 35, 7, p. 859-67

    Research output: Contribution to journalJournal articleResearchpeer-review

  32. Published

    Functional assays for analysis of variants of uncertain significance in BRCA2

    Guidugli, L., Carreira, A., Caputo, S. M., Ehlen, A., Galli, A., Monteiro, A. N. A., Neuhausen, S. L., Hansen, T. V. O., Couch, F. J., Vreeswijk, M. P. G. & ENIGMA consortium, Feb 2014, In: Human Mutation. 35, 2, p. 151-64 14 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  33. Published

    Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene

    Mercimek-Mahmutoglu, S., Ndika, J., Kanhai, W., de Villemeur, T. B., Cheillan, D., Christensen, E., Dorison, N., Hannig, V., Hendriks, Y., Hofstede, F. C., Lion-Francois, L., Lund, A. M., Mundy, H., Pitelet, G., Raspall-Chaure, M., Scott-Schwoerer, J. A., Szakszon, K., Valayannopoulos, V., Williams, M. & Salomons, G. S., 10 Jan 2014, In: Human Mutation. 35, 4, p. 462-69

    Research output: Contribution to journalJournal articleResearchpeer-review

  34. 2013
  35. Published

    Evaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelines

    Walker, L. C., Whiley, P. J., Houdayer, C., Hansen, T. V. O., Vega, A., Santamarina, M., Blanco, A., Fachal, L., Southey, M. C., Lafferty, A., Colombo, M., De Vecchi, G., Radice, P., Spurdle, A. B. & ENIGMA consortium, Oct 2013, In: Human Mutation. 34, 10, p. 1424-31 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  36. Published

    Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability

    Bisschoff, I. J., Zeschnigk, C., Horn, D., Wellek, B., Rieß, A., Wessels, M., Willems, P., Jensen, P., Busche, A., Bekkebraten, J., Chopra, M., Hove, H. D., Evers, A. C. W., Heimdal, K., Kaiser, A-S., Kunstmann, E., Robinson, K. L., Linné, M., Martin, P., McGrath, J., Pradel, W., Prescott, K. E., Roesler, B., Rudolf, G., Siebers-Renelt, U., Tyshchenko, N., Wieczorek, D., Wolff, G., Dobyns, W. B. & Morris-Rosendahl, D. J., Jan 2013, In: Human Mutation. 34, 1, p. 237-47 11 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  37. Published

    An overview and update of ATP7A mutations leading to menkes disease and occipital horn syndrome

    Tümer, Z., 2013, In: Human Mutation. 34, 3, p. 417-29 13 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  38. 2012
  39. Published

    A guide for functional analysis of BRCA1 variants of uncertain significance

    Millot, G. A., Carvalho, M. A., Caputo, S. M., Vreeswijk, M. P. G., Brown, M. A., Webb, M., Rouleau, E., Neuhausen, S. L., Hansen, T. V. O., Galli, A., Brandão, R. D., Blok, M. J., Velkova, A., Couch, F. J., Monteiro, A. N. A. & ENIGMA Consortium Functional Assay Working Group, 2012, In: Human Mutation. 33, 11, p. 1526-37 12 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  40. Published

    A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome

    Bergman, J. E. H., Janssen, N., van der Sloot, A. M., de Walle, H. E. K., Schoots, J., Rendtorff, N. D., Tranebjaerg, L., Hoefsloot, L. H., van Ravenswaaij-Arts, C. M. A. & Hofstra, R. M. W., 2012, In: Human Mutation. 33, 8, p. 1251-60 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  41. Published

    Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity

    Daniel, P. B., Morgan, T., Alanay, Y., Bijlsma, E., Cho, T-J., Cole, T., Collins, F., David, A., Devriendt, K., Faivre, L., Ikegawa, S., Jacquemont, S., Jesic, M., Krakow, D., Liebrecht, D., Maitz, S., Marlin, S., Morin, G., Nishikubo, T., Nishimura, G., Prescott, T., Scarano, G., Shafeghati, Y., Skovby, F., Tsutsumi, S., Whiteford, M., Zenker, M. & Robertson, S. P., 2012, In: Human Mutation. 33, 4, p. 665-673

    Research output: Contribution to journalJournal articleResearchpeer-review

  42. Published

    ENIGMA--evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes

    Spurdle, A. B., Healey, S., Devereau, A., Hogervorst, F. B. L., Monteiro, A. N. A., Nathanson, K. L., Radice, P., Stoppa-Lyonnet, D., Tavtigian, S., Wappenschmidt, B., Couch, F. J., Goldgar, D. E., ENIGMA & Hansen, T. V. O., 2012, In: Human Mutation. 33, 1, p. 2-7 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  43. Published

    Functional characterization of MLH1 missense variants identified in lynch syndrome patients

    Andersen, S. D., Liberti, S. E., Lützen, A., Drost, M., Bernstein, I., Nilbert, M., Dominguez, M., Nyström, M., Hansen, T. V. O., Christoffersen, J. W., Jäger, A. C., de Wind, N., Nielsen, F. C., Tørring, P. M. & Rasmussen, L. J., 2012, In: Human Mutation. 33, 12, p. 1647-55 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  44. Published

    Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase

    Huppke, P., Brendel, C., Korenke, G. C., Marquardt, I., Donsante, A., Yi, L., Hicks, J. D., Steinbach, P. J., Wilson, C., Elpeleg, O., Møller, L. B., Christodoulou, J., Kaler, S. G. & Gärtner, J., 2012, In: Human Mutation. 33, 8, p. 1207-15 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  45. Published

    Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy

    Böhm, J., Biancalana, V., Dechene, E. T., Bitoun, M., Pierson, C. R., Schaefer, E., Karasoy, H., Dempsey, M. A., Klein, F., Dondaine, N., Kretz, C., Haumesser, N., Poirson, C., Toussaint, A., Greenleaf, R. S., Barger, M. A., Mahoney, L. J., Kang, P. B., Zanoteli, E., Vissing, J., Witting, N., Echaniz-Laguna, A., Wallgren-Pettersson, C., Dowling, J., Merlini, L., Oldfors, A., Bomme Ousager, L., Melki, J., Krause, A., Jern, C., Oliveira, A. S. B., Petit, F., Jacquette, A., Chaussenot, A., Mowat, D., Leheup, B., Cristofano, M., Poza Aldea, J. J., Michel, F., Furby, A., Llona, J. E. B., Van Coster, R., Bertini, E., Urtizberea, J. A., Drouin-Garraud, V., Béroud, C., Prudhon, B., Bedford, M., Mathews, K., Erby, L. A. H., Smith, S. A., Roggenbuck, J., Crowe, C. A., Brennan Spitale, A., Johal, S. C., Amato, A. A., Demmer, L. A., Jonas, J., Darras, B. T., Bird, T. D., Laurino, M., Welt, S. I., Trotter, C., Guicheney, P., Das, S., Mandel, J-L., Beggs, A. H. & Laporte, J., 2012, In: Human Mutation. 33, 6, p. 949-59 11 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  46. Published

    Mutation update on the CHD7 gene involved in CHARGE syndrome

    Janssen, N., Bergman, J. E. H., Swertz, M. A., Tranebjaerg, L., Lodahl, M., Schoots, J., Hofstra, R. M. W., van Ravenswaaij-Arts, C. M. A. & Hoefsloot, L. H., 2012, In: Human Mutation. 33, 8, p. 1149-60 12 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  47. Published

    Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers

    Ramus, S. J., Antoniou, A. C., Kuchenbaecker, K. B., Soucy, P., Beesley, J., Chen, X., McGuffog, L., Sinilnikova, O. M., Healey, S., Barrowdale, D., Lee, A. R., Thomassen, M., Gerdes, A-M., Kruse, T. A., Jensen, U. B., Skytte, A-B., Caligo, M. A., Liljegren, A., Lindblom, A., Olsson, H., Kristoffersson, U., Stenmark-Askmalm, M., Melin, B., Domchek, S. M., Nathanson, K. L., Rebbeck, T. R., Jakubowska, A., Lubinski, J., Jaworska, K., Durda, K., Złowocka, E., Gronwald, J., Huzarski, T., Byrski, T., Cybulski, C., Toloczko-Grabarek, A., Osorio, A., Benitez, J., Duran, M., Tejada, M-I., Hamann, U., Rookus, M., van Leeuwen, F. E., Aalfs, C. M., Meijers-Heijboer, H. E. J., van Asperen, C. J., van Roozendaal, K. E. P., Hoogerbrugge, N., Hansen, T. V. O., Ejlertsen, B. & SWE-BRCA, 2012, In: Human Mutation. 33, 4, p. 690-702 13 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  48. Published

    Rett networked database: an integrated clinical and genetic network of Rett syndrome databases

    Grillo, E., Villard, L., Clarke, A., Ben Zeev, B., Pineda, M., Bahi-Buisson, N., Hryniewiecka-Jaworska, A., Bienvenu, T., Armstrong, J., Roche-Martinez, A., Mari, F., Veneselli, E., Russo, S., Vignoli, A., Pini, G., Djuric, M., Bisgaard, A-M., Mejaški Bošnjak, V., Polgár, N., Cogliati, F., Ravn, K., Pintaudi, M., Melegh, B., Craiu, D., Djukic, A. & Renieri, A., 2012, In: Human Mutation. 33, 7, p. 1031-6 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  49. 2011
  50. Published

    High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations

    Kariminejad, R., Lind-Thomsen, A., Tümer, Z., Erdogan, F., Ropers, H. H., Tommerup, N., Ullmann, R. & Møller, R. S., Dec 2011, In: Human Mutation. 32, 12, p. 1427-35 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  51. Published

    Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response

    Wissinger, B., Schaich, S., Baumann, B., Bonin, M., Jägle, H., Friedburg, C., Varsányi, B., Hoyng, C. B., Dollfus, H., Heckenlively, J. R., Rosenberg, T., Rudolph, G., Kellner, U., Salati, R., Plomp, A., De Baere, E., Andrassi-Darida, M., Sauer, A., Wolf, C., Zobor, D., Bernd, A., Leroy, B. P., Enyedi, P., Cremers, F. P. M., Lorenz, B., Zrenner, E. & Kohl, S., Dec 2011, In: Human Mutation. 32, 12, p. 1398-406 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  52. Published

    Biomedical informatics as support to individual healthcare in hereditary colon cancer: the Danish HNPCC system

    Bernstein, I. T., Lindorff-Larsen, K., Timshel, S., Brandt, C., Dinesen, B., Fenger, M., Gerdes, A-M. A., Iversen, L. H., Madsen, M. R., Okkels, H., Sunde, L. E. M., Rahr, H., Wikman, F. P. & Rossing, N. N., 2011, In: Human Mutation. 32, 5, p. 551-6 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  53. 2010
  54. Published

    D-glyceric aciduria is caused by genetic deficiency of D-glycerate kinase (GLYCTK)

    Sass, J. O., Fischer, K., Wang, R., Christensen, E., Scholl-Bürgi, S., Chang, R., Kapelari, K. & Walter, M., 1 Dec 2010, In: Human Mutation. 31, 12, p. 1280-5 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  55. Published

    An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study

    Steenweg, M. E., Jakobs, C., Errami, A., van Dooren, S. J. M., Adeva Bartolomé, M. T., Aerssens, P., Augoustides-Savvapoulou, P., Baric, I., Baumann, M., Bonafé, L., Chabrol, B., Clarke, J. T. R., Clayton, P., Coker, M., Cooper, S., Falik-Zaccai, T., Gorman, M., Hahn, A., Hasanoglu, A., King, M. D., de Klerk, H. B. C., Korman, S. H., Lee, C., Meldgaard Lund, A., Mejaski-Bosnjak, V., Pascual-Castroviejo, I., Raadhyaksha, A., Rootwelt, T., Roubertie, A., Ruiz-Falco, M. L., Scalais, E., Schimmel, U., Seijo-Martinez, M., Suri, M., Sykut-Cegielska, J., Trefz, F. K., Uziel, G., Valayannopoulos, V., Vianey-Saban, C., Vlaho, S., Vodopiutz, J., Wajner, M., Walter, J., Walter-Derbort, C., Yapici, Z., Zafeiriou, D. I., Spreeuwenberg, M. D., Celli, J., den Dunnen, J. T., van der Knaap, M. S. & Salomons, G. S., 1 Apr 2010, In: Human Mutation. 31, 4, p. 380-90 11 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  56. Published

    Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes

    Hjortshøj, T. D., Grønskov, K., Philp, A. R., Nishimura, D. Y., Riise, R., Sheffield, V. C., Rosenberg, T. & Brøndum-Nielsen, K., Apr 2010, In: Human Mutation. 31, 4, p. 429-36 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  57. Published

    Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria

    Kranendijk, M., Struys, E. A., Gibson, K. M., Wickenhagen, W. V., Abdenur, J. E., Buechner, J., Christensen, E., de Kremer, R. D., Errami, A., Gissen, P., Gradowska, W., Hobson, E., Islam, L., Korman, S. H., Kurczynski, T., Maranda, B., Meli, C., Rizzo, C., Sansaricq, C., Trefz, F. K., Webster, R., Jakobs, C. & Salomons, G. S., 1 Mar 2010, In: Human Mutation. 31, 3, p. 279-83 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  58. Published

    OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels

    Huber, C., Fradin, M., Edouard, T., Le Merrer, M., Alanay, Y., Da Silva, D. B., David, A., Hamamy, H., van Hest, L., Lund, A. M., Michaud, J., Oley, C., Patel, C., Rajab, A., Skidmore, D. L., Stewart, H., Tauber, M., Munnich, A. & Cormier-Daire, V., 1 Jan 2010, In: Human Mutation. 31, 1, p. 20-6 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  59. 2009
  60. Published

    Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations

    Ferré, M., Bonneau, D., Milea, D., Chevrollier, A., Verny, C., Dollfus, H., Ayuso, C., Defoort, S., Vignal, C., Zanlonghi, X., Charlin, J-F., Kaplan, J., Odent, S., Hamel, C. P., Procaccio, V., Reynier, P. & Amati-Bonneau, P., 1 Jul 2009, In: Human Mutation. 30, 7, p. E692-705

    Research output: Contribution to journalJournal articleResearchpeer-review

  61. 2005
  62. Published

    Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations

    Rendtorff, N. D., Bjerregaard, B., Frödin, M., Kjaergaard, S., Hove, H., Skovby, F., Brøndum-Nielsen, K., Schwartz, M. & Danish Tuberous Sclerosis Group, Oct 2005, In: Human Mutation. 26, 4, p. 374-83 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  63. 2004
  64. Published

    Mutation analysis of the adenomatous polyposis coli (APC) gene in Danish patients with familial adenomatous polyposis (FAP).

    Bisgaard, M. L., Ripa, R. S. & Bülow, S., 2004, In: Human Mutation. 23, 5, p. 522

    Research output: Contribution to journalJournal articleResearchpeer-review

ID: 88982