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Rigshospitalet - a part of Copenhagen University Hospital

American Journal of Human Genetics, 0002-9297

Journal

  1. 2019
  2. Published

    Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

    Karolak, J. A., Vincent, M., Deutsch, G., Gambin, T., Cogné, B., Pichon, O., Vetrini, F., Mefford, H. C., Dines, J. N., Golden-Grant, K., Dipple, K., Freed, A. S., Leppig, K. A., Dishop, M., Mowat, D., Bennetts, B., Gifford, A. J., Weber, M. A., Lee, A. F., Boerkoel, C. F., Bartell, T. M., Ward-Melver, C., Besnard, T., Petit, F., Bache, I., Tümer, Z., Denis-Musquer, M., Joubert, M., Martinovic, J., Bénéteau, C., Molin, A., Carles, D., André, G., Bieth, E., Chassaing, N., Devisme, L., Chalabreysse, L., Pasquier, L., Secq, V., Don, M., Orsaria, M., Missirian, C., Mortreux, J., Sanlaville, D., Pons, L., Küry, S., Bézieau, S., Liet, J-M., Joram, N., Bihouée, T., Scott, D. A., Brown, C. W., Scaglia, F., Tsai, A. C-H., Grange, D. K., Phillips, J. A., Pfotenhauer, J. P., Jhangiani, S. N., Gonzaga-Jauregui, C. G., Chung, W. K., Schauer, G. M., Lipson, M. H., Mercer, C. L., van Haeringen, A., Liu, Q., Popek, E., Coban Akdemir, Z. H., Lupski, J. R., Szafranski, P., Isidor, B., Le Caignec, C. & Stankiewicz, P., 7 Feb 2019, In : American Journal of Human Genetics. 104, 2, p. 213-228 16 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Published

    Associations of Mitochondrial and Nuclear Mitochondrial Variants and Genes with Seven Metabolic Traits

    Kraja, A. T., Liu, C., Fetterman, J. L., Graff, M., Have, C. T., Gu, C., Yanek, L. R., Feitosa, M. F., Arking, D. E., Chasman, D. I., Young, K., Ligthart, S., Hill, W. D., Weiss, S., Luan, J., Giulianini, F., Li-Gao, R., Hartwig, F. P., Lin, S. J., Wang, L., Richardson, T. G., Yao, J., Fernandez, E. P., Ghanbari, M., Wojczynski, M. K., Lee, W-J., Argos, M., Armasu, S. M., Barve, R. A., Ryan, K. A., An, P., Baranski, T. J., Bielinski, S. J., Bowden, D. W., Broeckel, U., Christensen, K., Chu, A. Y., Corley, J., Cox, S. R., Uitterlinden, A. G., Rivadeneira, F., Cropp, C. D., Daw, E. W., van Heemst, D., de Las Fuentes, L., Gao, H., Tzoulaki, I., Ahluwalia, T. S., de Mutsert, R., Emery, L. S., Erzurumluoglu, A. M., Perry, J. A., Fu, M., Forouhi, N. G., Gu, Z., Hai, Y., Harris, S. E., Hemani, G., Hunt, S. C., Irvin, M. R., Jonsson, A. E., Justice, A. E., Kerrison, N. D., Larson, N. B., Lin, K-H., Love-Gregory, L. D., Mathias, R. A., Lee, J. H., Nauck, M., Noordam, R., Ong, K. K., Pankow, J., Patki, A., Pattie, A., Petersmann, A., Qi, Q., Ribel-Madsen, R., Rohde, R., Sandow, K., Schnurr, T. M., Sofer, T., Starr, J. M., Taylor, A. M., Teumer, A., Timpson, N. J., de Haan, H. G., Wang, Y., Weeke, P. E., Williams, C., Wu, H., Yang, W., Zeng, D., Witte, D. R., Weir, B. S., Wareham, N. J., Vestergaard, H., Turner, S. T., Torp-Pedersen, C., Stergiakouli, E., Sheu, W. H-H., Rosendaal, F. R., Ikram, M. A., Franco, O. H., Ridker, P. M., Perls, T. T., Pedersen, O., Nohr, E. A., Newman, A. B., Linneberg, A., Langenberg, C., Kilpeläinen, T. O., Kardia, S. L. R., Jørgensen, M. E., Jørgensen, T., Sørensen, T. I. A., Homuth, G., Hansen, T., Goodarzi, M. O., Deary, I. J., Christensen, C., Chen, Y-D. I., Chakravarti, A., Brandslund, I., Bonnelykke, K., Taylor, K. D., Wilson, J. G., Rodriguez, S., Davies, G., Horta, B. L., Thyagarajan, B., Rao, D. C., Grarup, N., Davila-Roman, V. G., Hudson, G., Guo, X., Arnett, D. K., Hayward, C., Vaidya, D., Mook-Kanamori, D. O., Tiwari, H. K., Levy, D., Loos, R. J. F., Dehghan, A., Elliott, P., Malik, A. N., Scott, R. A., Becker, D. M., de Andrade, M., Province, M. A., Meigs, J. B., Rotter, J. I. & North, K. E., 3 Jan 2019, In : American Journal of Human Genetics. 104, 1, p. 112-138 27 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. 2018
  5. Published

    Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome

    Xu, L., Jensen, H., Johnston, J. J., Di Maria, E., Kloth, K., Cristea, I., Sapp, J. C., Darling, T. N., Huryn, L. A., Tranebjærg, L., Cinotti, E., Kubisch, C., Rødahl, E., Bruland, O., Biesecker, L. G., Houge, G. & Bredrup, C., 6 Dec 2018, In : American Journal of Human Genetics. 103, 6, p. 976-983 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  6. Published

    A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation

    Ferreira, C. R., Xia, Z-J., Clément, A., Parry, D. A., Davids, M., Taylan, F., Sharma, P., Turgeon, C. T., Blanco-Sánchez, B., Ng, B. G., Logan, C. V., Wolfe, L. A., Solomon, B. D., Cho, M. T., Douglas, G., Carvalho, D. R., Bratke, H., Haug, M. G., Phillips, J. B., Wegner, J., Tiemeyer, M., Aoki, K., Nordgren, A., Hammarsjö, A., Duker, A. L., Rohena, L., Hove, H. B., Ek, J., Adams, D., Tifft, C. J., Onyekweli, T., Weixel, T., Macnamara, E., Radtke, K., Powis, Z., Earl, D., Gabriel, M., Russi, A. H. S., Brick, L., Kozenko, M., Tham, E., Raymond, K. M., Phillips, J. A., Tiller, G. E., Wilson, W. G., Hamid, R., Malicdan, M. C. V., Nishimura, G., Grigelioniene, G., Jackson, A. & Undiagnosed Diseases Network, 4 Oct 2018, In : American Journal of Human Genetics. 103, 4, p. 553-567 15 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  7. Published

    Estimation of Genetic Correlation via Linkage Disequilibrium Score Regression and Genomic Restricted Maximum Likelihood

    Ni, G., Moser, G., Ripke, S., Neale, B. M., Corvin, A., Walters, J. T. R., Farh, K. H., Holmans, P. A., Lee, P., Bulik-Sullivan, B., Collier, D. A., Huang, H., Pers, T. H., Agartz, I., Agerbo, E., Albus, M., Alexander, M., Amin, F., Bacanu, S. A., Begemann, M., Belliveau, R. A., Bene, J., Bergen, S. E., Bevilacqua, E., Bigdeli, T. B., Black, D. W., Bruggeman, R., Buccola, N. G., Buckner, R. L., Byerley, W., Cahn, W., Cai, G., Campion, D., Cantor, R. M., Carr, V. J., Carrera, N., Catts, S. V., Chambert, K. D., Chan, R. C. K., Chen, R. Y. L., Chen, E. Y. H., Cheng, W., Cheung, E. F. C., Chong, S. A., Hansen, M., Hansen, T., Meier, S., Olsen, L., Rasmussen, H. B., Werge, T., Wellcome Trust Case-Control Consortium, Schizophrenia Working Group of the Psychiatric Genomics Consortium & Psychosis Endophenotypes International Consortium, 7 Jun 2018, In : American Journal of Human Genetics. 102, 6, p. 1185-1194 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  8. Published

    Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes

    Halgren, C., Nielsen, N. M., Nazaryan-Petersen, L., Silahtaroglu, A., Collins, R. L., Lowther, C., Kjaergaard, S., Frisch, M., Kirchhoff, M., Brøndum-Nielsen, K., Lind-Thomsen, A., Mang, Y., El-Schich, Z., Boring, C. A., Mehrjouy, M. M., Jensen, P. K. A., Fagerberg, C., Krogh, L. N., Hansen, J., Bryndorf, T., Hansen, C., Talkowski, M. E., Bak, M., Tommerup, N. & Bache, I., 7 Jun 2018, In : American Journal of Human Genetics. 102, 6, p. 1090-1103 14 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  9. Published

    Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia

    Guissart, C., Latypova, X., Rollier, P., Khan, T. N., Stamberger, H., McWalter, K., Cho, M. T., Kjaergaard, S., Weckhuysen, S., Lesca, G., Besnard, T., Õunap, K., Schema, L., Chiocchetti, A. G., McDonald, M., de Bellescize, J., Vincent, M., Van Esch, H., Sattler, S., Forghani, I., Thiffault, I., Freitag, C. M., Barbouth, D. S., Cadieux-Dion, M., Willaert, R., Guillen Sacoto, M. J., Safina, N. P., Dubourg, C., Grote, L., Carré, W., Saunders, C., Pajusalu, S., Farrow, E., Boland, A., Karlowicz, D. H., Deleuze, J-F., Wojcik, M. H., Pressman, R., Isidor, B., Vogels, A., Van Paesschen, W., Al-Gazali, L., Al Shamsi, A. M., Claustres, M., Pujol, A., Sanders, S. J., Rivier, F., Leboucq, N., Cogné, B., Sasorith, S., Sanlaville, D., Retterer, K., Odent, S., Katsanis, N., Bézieau, S., Koenig, M., Davis, E. E., Pasquier, L. & Küry, S., 3 May 2018, In : American Journal of Human Genetics. 102, 5, p. 744-759 16 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  10. Published

    Genome-wide Study of Atrial Fibrillation Identifies Seven Risk Loci and Highlights Biological Pathways and Regulatory Elements Involved in Cardiac Development

    Nielsen, J. B., Fritsche, L. G., Zhou, W., Teslovich, T. M., Holmen, O. L., Gustafsson, S., Gabrielsen, M. E., Schmidt, E. M., Beaumont, R., Wolford, B. N., Lin, M., Brummett, C. M., Preuss, M. H., Refsgaard, L., Bottinger, E. P., Graham, S. E., Surakka, I., Chu, Y., Skogholt, A. H., Dalen, H., Boyle, A. P., Oral, H., Herron, T. J., Kitzman, J., Jalife, J., Svendsen, J. H., Olesen, M. S., Njølstad, I., Løchen, M. L., Baras, A., Gottesman, O., Marcketta, A., O'Dushlaine, C., Ritchie, M. D., Wilsgaard, T., Loos, R. J. F., Frayling, T. M., Boehnke, M., Ingelsson, E., Carey, D. J., Dewey, F. E., Kang, H. M., Abecasis, G. R., Hveem, K. & Willer, C. J., 4 Jan 2018, In : American Journal of Human Genetics. 102, 1, p. 103-115 13 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  11. Published

    Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children

    Bashamboo, A., Eozenou, C., Jorgensen, A., Bignon-Topalovic, J., Siffroi, J-P., Hyon, C., Tar, A., Nagy, P., Sólyom, J., Halász, Z., Paye-Jaouen, A., Lambert, S., Rodriguez-Buritica, D., Bertalan, R., Martinerie, L., Rajpert-De Meyts, E., Achermann, J. C. & McElreavey, K., 2018, In : American Journal of Human Genetics. 102, 3, p. 487-93

    Research output: Contribution to journalJournal articleResearchpeer-review

  12. Published

    Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms

    Höben, I. M., Hjeij, R., Olbrich, H., Dougherty, G. W., Nöthe-Menchen, T., Aprea, I., Frank, D., Pennekamp, P., Dworniczak, B., Wallmeier, J., Raidt, J., Nielsen, K. G., Philipsen, M. C., Santamaria, F., Venditto, L., Amirav, I., Mussaffi, H., Prenzel, F., Wu, K., Bakey, Z., Schmidts, M., Loges, N. T. & Omran, H., 2018, In : American Journal of Human Genetics. 102, 5, p. 973-984 12 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  13. 2017
  14. Published

    Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits

    Tachmazidou, I., Süveges, D., Min, J. L., Ritchie, G. R. S., Steinberg, J., Walter, K., Iotchkova, V., Schwartzentruber, J., Huang, J., Memari, Y., McCarthy, S., Crawford, A. A., Bombieri, C., Cocca, M., Farmaki, A-E., Gaunt, T. R., Jousilahti, P., Kooijman, M. N., Lehne, B., Malerba, G., Männistö, S., Matchan, A., Medina-Gomez, C., Metrustry, S. J., Nag, A., Ntalla, I., Paternoster, L., Rayner, N. W., Sala, C., Scott, W. R., Shihab, H. A., Southam, L., St Pourcain, B., Traglia, M., Trajanoska, K., Zaza, G., Zhang, W., Artigas, M. S., Bansal, N., Benn, M., Chen, Z., Danecek, P., Lin, W-Y., Locke, A., Luan, J., Manning, A. K., Mulas, A., Tybjaerg-Hansen, A., Varbo, A., Nordestgaard, B. G. & SpiroMeta Consortium, 1 Jun 2017, In : American Journal of Human Genetics. 100, 6, p. 865-884 20 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  15. Published

    YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction

    Gabriele, M., Vulto-van Silfhout, A. T., Germain, P-L., Vitriolo, A., Kumar, R., Douglas, E., Haan, E., Kosaki, K., Takenouchi, T., Rauch, A., Steindl, K., Frengen, E., Misceo, D., Pedurupillay, C. R. J., Stromme, P., Rosenfeld, J. A., Shao, Y., Craigen, W. J., Schaaf, C. P., Rodriguez-Buritica, D., Farach, L., Friedman, J., Thulin, P., McLean, S. D., Nugent, K. M., Morton, J., Nicholl, J., Andrieux, J., Stray-Pedersen, A., Chambon, P., Patrier, S., Lynch, S. A., Kjaergaard, S., Tørring, P. M., Brasch-Andersen, C., Ronan, A., van Haeringen, A., Anderson, P. J., Powis, Z., Brunner, H. G., Pfundt, R., Schuurs-Hoeijmakers, J. H. M., van Bon, B. W. M., Lelieveld, S., Gilissen, C., Nillesen, W. M., Vissers, L. E. L. M., Gecz, J., Koolen, D. A., Testa, G. & de Vries, B. B. A., 1 Jun 2017, In : American Journal of Human Genetics. 100, 6, p. 907-925 19 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  16. 2016
  17. Published

    Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits

    Chami, N., Chen, M-H., Slater, A. J., Eicher, J. D., Evangelou, E., Tajuddin, S. M., Love-Gregory, L., Kacprowski, T., Schick, U. M., Nomura, A., Giri, A., Lessard, S., Brody, J. A., Schurmann, C., Pankratz, N., Yanek, L. R., Manichaikul, A., Pazoki, R., Mihailov, E., Hill, W. D., Raffield, L. M., Burt, A., Bartz, T. M., Becker, D. M., Becker, L. C., Boerwinkle, E., Bork-Jensen, J., Bottinger, E. P., O'Donoghue, M. L., Crosslin, D. R., de Denus, S., Dubé, M-P., Elliott, P., Engström, G., Evans, M. K., Floyd, J. S., Fornage, M., Gao, H., Greinacher, A., Gudnason, V., Hansen, T., Harris, T. B., Hayward, C., Hernesniemi, J., Highland, H. M., Hirschhorn, J. N., Hofman, A., Irvin, M. R., Kähönen, M., Lange, E., Launer, L. J., Lehtimäki, T., Li, J., Liewald, D. C. M., Linneberg, A., Liu, Y., Lu, Y., Lyytikäinen, L-P., Mägi, R., Mathias, R. A., Melander, O., Metspalu, A., Mononen, N., Nalls, M. A., Nickerson, D. A., Nikus, K., O'Donnell, C. J., Orho-Melander, M., Pedersen, O., Petersmann, A., Polfus, L., Psaty, B. M., Raitakari, O. T., Raitoharju, E., Richard, M., Rice, K. M., Rivadeneira, F., Rotter, J. I., Schmidt, F., Smith, A. V., Starr, J. M., Taylor, K. D., Teumer, A., Thuesen, B. H., Torstenson, E. S., Tracy, R. P., Tzoulaki, I., Zakai, N. A., Vacchi-Suzzi, C., van Duijn, C. M., van Rooij, F. J. A., Cushman, M., Deary, I. J., Velez Edwards, D. R., Vergnaud, A-C., Wallentin, L., Waterworth, D. M., White, H. D., Wilson, J. G., Zonderman, A. B., Kathiresan, S., Grarup, N., Esko, T., Loos, R. J. F., Lange, L. A., Faraday, N., Abumrad, N. A., Edwards, T. L., Ganesh, S. K., Auer, P. L., Johnson, A. D., Reiner, A. P. & Lettre, G., 7 Jul 2016, In : American Journal of Human Genetics. 99, 1, p. 8-21 14 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  18. 2015
  19. Published

    DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome

    White, J., Mazzeu, J. F., Hoischen, A., Jhangiani, S. N., Gambin, T., Alcino, M. C., Penney, S., Saraiva, J. M., Hove, H., Skovby, F., Kayserili, H., Estrella, E., Vulto-van Silfhout, A. T., Steehouwer, M., Muzny, D. M., Sutton, V. R., Gibbs, R. A., Lupski, J. R., Brunner, H. G., van Bon, B. W. M., Carvalho, C. M. B. & Baylor-Hopkins Center for Mendelian Genomics, 2 Apr 2015, In : American Journal of Human Genetics. 96, 4, p. 612-22 11 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  20. Published

    CLPB Variants Associated with Autosomal-Recessive Mitochondrial Disorder with Cataract, Neutropenia, Epilepsy, and Methylglutaconic Aciduria

    Saunders, C., Smith, L., Wibrand, F., Ravn, K., Bross, P., Thiffault, I., Christensen, M., Atherton, A., Farrow, E., Miller, N., Kingsmore, S. F. & Ostergaard, E., 5 Feb 2015, In : American Journal of Human Genetics. 96, 2, p. 258-65 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  21. Published

    HLA-DPB1 and HLA class I confer risk of and protection from narcolepsy

    Ollila, H. M., Ravel, J-M., Han, F., Faraco, J., Lin, L., Zheng, X., Plazzi, G., Dauvilliers, Y., Pizza, F., Hong, S-C., Jennum, P., Knudsen, S., Kornum, B. R., Dong, X. S., Yan, H., Hong, H., Coquillard, C., Mahlios, J., Jolanki, O., Einen, M., Arnulf, I., Lavault, S., Högl, B., Frauscher, B., Crowe, C., Partinen, M., Huang, Y. S., Bourgin, P., Vaarala, O., Désautels, A., Montplaisir, J., Mack, S. J., Mindrinos, M., Fernandez-Vina, M. & Mignot, E., 8 Jan 2015, In : American Journal of Human Genetics. 96, 1, p. 136-46 11 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  22. Published

    Uncovering the genetic history of the present-day greenlandic population

    Moltke, I., Fumagalli, M., Korneliussen, T. S., Crawford, J. E., Bjerregaard, P., Jørgensen, M. E., Grarup, N., Gulløv, H. C., Linneberg, A., Pedersen, O. B., Hansen, T., Nielsen, R. & Albrechtsen, A., 8 Jan 2015, In : American Journal of Human Genetics. 96, 1, p. 54-69 16 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  23. 2014
  24. Published

    CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation

    Hjeij, R., Onoufriadis, A., Watson, C. M., Slagle, C. E., Klena, N. T., Dougherty, G. W., Kurkowiak, M., Loges, N. T., Diggle, C. P., Morante, N. F. C., Gabriel, G. C., Lemke, K. L., Li, Y., Pennekamp, P., Menchen, T., Konert, F., Marthin, J. K., Mans, D. A., Letteboer, S. J. F., Werner, C., Burgoyne, T., Westermann, C., Rutman, A., Carr, I. M., O'Callaghan, C., Moya, E., Chung, E. M. K., Sheridan, E., Nielsen, K. G., Roepman, R., Bartscherer, K., Burdine, R. D., Lo, C. W., Omran, H., Mitchison, H. M. & UK10K Consortium, 4 Sep 2014, In : American Journal of Human Genetics. 95, 3, p. 257-74 18 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  25. 2013
  26. Published

    SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant

    Dauber, A., Golzio, C., Guenot, C., Jodelka, F. M., Kibaek, M., Kjaergaard, S., Leheup, B., Martinet, D., Nowaczyk, M. J. M., Rosenfeld, J. A., Zeesman, S., Zunich, J., Beckmann, J. S., Hirschhorn, J. N., Hastings, M. L., Jacquemont, S. & Katsanis, N., 7 Nov 2013, In : American Journal of Human Genetics. 93, 5, p. 798-811 14 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  27. Published

    Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia

    Moore, D. J., Onoufriadis, A., Shoemark, A., Simpson, M. A., zur Lage, P. I., de Castro, S. C., Bartoloni, L., Gallone, G., Petridi, S., Woollard, W. J., Antony, D., Schmidts, M., Didonna, T., Makrythanasis, P., Bevillard, J., Mongan, N. P., Djakow, J., Pals, G., Lucas, J. S., Marthin, J. K., Nielsen, K. G., Santoni, F., Guipponi, M., Hogg, C., Antonarakis, S. E., Emes, R. D., Chung, E. M. K., Greene, N. D. E., Blouin, J-L., Jarman, A. P. & Mitchison, H. M., 8 Aug 2013, In : American Journal of Human Genetics. 93, 2, p. 346-56 11 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  28. Published

    ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6

    Zariwala, M. A., Gee, H. Y., Kurkowiak, M., Al-Mutairi, D. A., Leigh, M. W., Hurd, T. W., Hjeij, R., Dell, S. D., Chaki, M., Dougherty, G. W., Adan, M., Spear, P. C., Esteve-Rudd, J., Loges, N. T., Rosenfeld, M., Diaz, K. A., Olbrich, H., Wolf, W. E., Sheridan, E., Batten, T. F. C., Halbritter, J., Porath, J. D., Kohl, S., Lovric, S., Hwang, D-Y., Pittman, J. E., Burns, K. A., Ferkol, T. W., Sagel, S. D., Olivier, K. N., Morgan, L. C., Werner, C., Raidt, J., Pennekamp, P., Sun, Z., Zhou, W., Airik, R., Natarajan, S., Allen, S. J., Amirav, I., Wieczorek, D., Landwehr, K., Nielsen, K., Schwerk, N., Sertic, J., Köhler, G., Washburn, J., Levy, S., Fan, S., Koerner-Rettberg, C., Amselem, S., Williams, D. S., Mitchell, B. J., Drummond, I. A., Otto, E. A., Omran, H., Knowles, M. R. & Hildebrandt, F., 8 Aug 2013, In : American Journal of Human Genetics. 93, 2, p. 336-45 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  29. Published

    De novo mutations in the genome organizer CTCF cause intellectual disability

    Gregor, A., Oti, M., Kouwenhoven, E. N., Hoyer, J., Sticht, H., Ekici, A. B., Kjaergaard, S., Rauch, A., Stunnenberg, H. G., Uebe, S., Vasileiou, G., Reis, A., Zhou, H. & Zweier, C., 11 Jul 2013, In : American Journal of Human Genetics. 93, 1, p. 124-31 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  30. Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy

    Arndt, A-K., Schafer, S., Drenckhahn, J-D., Sabeh, M. K., Plovie, E. R., Caliebe, A., Klopocki, E., Musso, G., Werdich, A. A., Kalwa, H., Heinig, M., Padera, R. F., Wassilew, K., Bluhm, J., Harnack, C., Martitz, J., Barton, P. J., Greutmann, M., Berger, F., Hubner, N., Siebert, R., Kramer, H-H., Cook, S. A., MacRae, C. A. & Klaassen, S., 11 Jul 2013, In : American Journal of Human Genetics. 93, 1, p. 67-77 11 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  31. Published

    Network-based multiple sclerosis pathway analysis with GWAS data from 15,000 cases and 30,000 controls

    Sørensen, P. S. & International Multiple Sclerosis Genetics Consortium, 6 Jun 2013, In : American Journal of Human Genetics. 92, 6, p. 854-65 12 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  32. Published

    Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes

    Delio, M., Guo, T., McDonald-McGinn, D. M., Zackai, E., Herman, S., Kaminetzky, M., Higgins, A. M., Coleman, K., Chow, C., Jalbrzikowski, M., Jarlbrzkowski, M., Bearden, C. E., Bailey, A., Vangkilde, A., Olsen, L., Olesen, C., Skovby, F., Werge, T. M., Templin, L., Busa, T., Philip, N., Swillen, A., Vermeesch, J. R., Devriendt, K., Schneider, M., Dahoun, S., Eliez, S., Schoch, K., Hooper, S. R., Shashi, V., Samanich, J., Marion, R., van Amelsvoort, T., Boot, E., Klaassen, P., Duijff, S. N., Vorstman, J., Yuen, T., Silversides, C., Chow, E., Bassett, A., Frisch, A., Weizman, A., Gothelf, D., Niarchou, M., van den Bree, M., Owen, M. J., Suñer, D. H., Andreo, J. R., Armando, M., Vicari, S., Digilio, M. C., Auton, A., Kates, W. R., Wang, T., Shprintzen, R. J., Emanuel, B. S. & Morrow, B. E., 7 Mar 2013, In : American Journal of Human Genetics. 92, 3, p. 439-47 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  33. Published

    Mutations in C10orf11, Encoding a Melanocyte-Differentiation Gene, Cause Autosomal-Recessive Albinism

    Grønskov, K., Dooley, C. M., Ostergaard, E., Kelsh, R. N., Hansen, L., Levesque, M. P., Vilhelmsen, K., Møllgård, K., Stemple, D. L. & Rosenberg, T., 2013, In : American Journal of Human Genetics. 92, 3, p. 415-421

    Research output: Contribution to journalJournal articleResearchpeer-review

  34. 2012
  35. Published

    Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin

    Huppke, P., Brendel, C., Kalscheuer, V., Korenke, G. C., Marquardt, I., Freisinger, P., Christodoulou, J., Hillebrand, M., Pitelet, G., Wilson, C., Gruber-Sedlmayr, U., Ullmann, R., Haas, S., Elpeleg, O., Nürnberg, G., Nürnberg, P., Dad, S., Møller, L. B., Kaler, S. G. & Gärtner, J., 2012, In : American Journal of Human Genetics. 90, 1, p. 61-8 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  36. Published

    Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies

    Kim, H-G., Kim, H-T., Leach, N. T., Lan, F., Ullmann, R., Silahtaroglu, A., Kurth, I., Nowka, A., Seong, I. S., Shen, Y., Talkowski, M. E., Ruderfer, D., Lee, J-H., Glotzbach, C., Ha, K., Kjaergaard, S., Levin, A. V., Romeike, B. F., Kleefstra, T., Bartsch, O., Elsea, S. H., Jabs, E. W., MacDonald, M. E., Harris, D. J., Quade, B. J., Ropers, H-H., Shaffer, L. G., Kutsche, K., Layman, L. C., Tommerup, N., Kalscheuer, V. M., Shi, Y., Morton, C. C., Kim, C-H. & Gusella, J. F., 2012, In : American Journal of Human Genetics. 91, 1, p. 56-72 17 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  37. 2011
  38. Published

    Abdominal aortic aneurysm is associated with a variant in low-density lipoprotein receptor-related protein 1

    Bown, M. J., Jones, G. T., Harrison, S. C., Wright, B. J., Bumpstead, S., Baas, A. F., Gretarsdottir, S., Badger, S. A., Bradley, D. T., Burnand, K., Child, A. H., Clough, R. E., Cockerill, G., Hafez, H., Scott, D. J. A., Futers, S., Johnson, A., Sohrabi, S., Smith, A., Thompson, M. M., van Bockxmeer, F. M., Waltham, M., Matthiasson, S. E., Thorleifsson, G., Thorsteinsdottir, U., Blankensteijn, J. D., Teijink, J. A. W., Wijmenga, C., de Graaf, J., Kiemeney, L. A., Assimes, T. L., McPherson, R., Folkersen, L. W., Franco-Cereceda, A., Palmen, J., Smith, F. A., Sylvius, N., Wild, J. B., Refstrup, M., Edkins, S., Gwilliam, R., Hunt, S. E., Potter, S., Lindholt, J. S., Frikke-Schmidt, R., Tybjærg-Hansen, A., Hughes, A. E., Golledge, J., Norman, P. E., van Rij, A. & CARDIoGRAM Consortium, 2011, In : American Journal of Human Genetics. 89, 5, p. 619-27 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  39. Published

    Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease

    Gal, A., Rau, I., El Matri, L., Kreienkamp, H-J., Fehr, S., Baklouti, K., Chouchane, I., Li, Y., Rehbein, M., Fuchs, J., Fledelius, H. C., Vilhelmsen, K., Schorderet, D. F., Munier, F. L., Ostergaard, E., Thompson, D. A. & Rosenberg, T., 2011, In : American Journal of Human Genetics. 88, 3, p. 382-90 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  40. Published

    Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting

    Saadi, I., Alkuraya, F. S., Gisselbrecht, S. S., Goessling, W., Cavallesco, R., Turbe-Doan, A., Petrin, A. L., Harris, J., Siddiqui, U., Grix, A. W., Hove, H. B., Leboulch, P., Glover, T. W., Morton, C. C., Richieri-Costa, A., Murray, J. C., Erickson, R. P. & Maas, R. L., 2011, In : American Journal of Human Genetics. 89, 1, p. 44-55 12 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  41. Published

    Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption, and supernumerary teeth

    Nieminen, P., Morgan, N. V., Fenwick, A. L., Parmanen, S., Veistinen, L., Mikkola, M. L., van der Spek, P. J., Giraud, A., Judd, L., Arte, S., Brueton, L. A., Wall, S. A., Mathijssen, I. M. J., Maher, E. R., Wilkie, A. O. M., Kreiborg, S. & Thesleff, I., 2011, In : American Journal of Human Genetics. 89, 1, p. 67-81 15 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  42. 2010
  43. Published

    Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect

    Antonicka, H., Østergaard, E., Sasarman, F., Weraarpachai, W., Wibrand, F., Pedersen, A. M. B., Rodenburg, R. J., van der Knaap, M. S., Smeitink, J. A. M., Chrzanowska-Lightowlers, Z. M. & Shoubridge, E. A., 9 Jul 2010, In : American Journal of Human Genetics. 87, 1, p. 115-22 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  44. Published

    Genome-wide association study in a high-risk isolate for multiple sclerosis reveals associated variants in STAT3 gene

    Jakkula, E., Leppä, V., Sulonen, A-M., Varilo, T., Kallio, S., Kemppinen, A., Purcell, S., Koivisto, K., Tienari, P., Sumelahti, M-L., Elovaara, I., Pirttilä, T., Reunanen, M., Aromaa, A., Oturai, A. B., Søndergaard, H. B., Hansen, H. H., Mero, I-L., Gabriel, S. B., Mirel, D. B., Hauser, S. L., Kappos, L., Polman, C., De Jager, P. L., Hafler, D. A., Daly, M. J., Palotie, A., Saarela, J. & Peltonen, L., 12 Feb 2010, In : American Journal of Human Genetics. 86, 2, p. 285-91 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  45. 2007
  46. Published

    Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion

    Ostergaard, E., Christensen, E., Kristensen, E., Mogensen, B., Duno, M., Shoubridge, E. A. & Wibrand, F., Aug 2007, In : American Journal of Human Genetics. 81, 2, p. 383-7 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  47. 1988
  48. Published

    Molecular analysis of male-viable deletions and duplications allows ordering of 52 DNA probes on proximal Xq

    Cremers, F. P., van de Pol, T. J., Wieringa, B., Hofker, M. H., Pearson, P. L., Pfeiffer, R. A., Mikkelsen, M., Tabor, A. & Ropers, H. H., Oct 1988, In : American Journal of Human Genetics. 43, 4, p. 452-61 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

ID: 25828