King's College London

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American Journal of Human Genetics, ‎0002-9297

Journal

  1. The impact of anorexia nervosa and BMI polygenic risk on childhood growth: A 20-year longitudinal population-based study

    Abdulkadir, M., Hübel, C., Herle, M., Loos, R. J. F., Breen, G., Bulik, C. M. & Micali, N., 7 Jul 2022, In: American Journal of Human Genetics. 109, 7, p. 1242-1254 13 p.

    Research output: Contribution to journalArticlepeer-review

  2. Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss

    Estonian Biobank Research Team, 2 Jun 2022, In: American Journal of Human Genetics. 109, 6, p. 1077-1091 15 p.

    Research output: Contribution to journalArticlepeer-review

  3. De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis

    Undiagnosed Diseases Network & UCLA Clinical Genomics Center, 4 Feb 2021, In: American Journal of Human Genetics. 108, 2, p. 357-367 11 p.

    Research output: Contribution to journalArticlepeer-review

  4. Identification of susceptibility loci for Takayasu arteritis through a large multi-ancestral genome-wide association study

    Ortiz-Fernández, L., Saruhan-Direskeneli, G., Alibaz-Oner, F., Kaymaz-Tahra, S., Coit, P., Kong, X., Kiprianos, A. P., Maughan, R. T., Aydin, S. Z., Aksu, K., Keser, G., Kamali, S., Inanc, M., Springer, J., Akar, S., Onen, F., Akkoc, N., Khalidi, N. A., Koening, C., Karadag, O. & 51 others, Kiraz, S., Forbess, L., Langford, C. A., McAlear, C. A., Ozbalkan, Z., Yavuz, S., Çetin, G. Y., Alpay-Kanitez, N., Chung, S., Ates, A., Karaaslan, Y., McKinnon-Maksimowicz, K., Monach, P. A., Ozer, H. T. E., Seyahi, E., Fresko, I., Cefle, A., Seo, P., Warrington, K. J., Ozturk, M. A., Ytterberg, S. R., Cobankara, V., Onat, A. M., Duzgun, N., Bıcakcıgil, M., Yentür, S. P., Lally, L., Manfredi, A. A., Baldissera, E., Erken, E., Yazici, A., Kısacık, B., Kaşifoğlu, T., Dalkilic, E., Cuthbertson, D., Pagnoux, C., Sreih, A., Reales, G., Wallace, C., Wren, J. D., Cunninghame-Graham, D. S., Vyse, T. J., Sun, Y., Chen, H., Grayson, P. C., Tombetti, E., Jiang, L., Mason, J. C., Merkel, P. A., Direskeneli, H. & Sawalha, A. H., 7 Jan 2021, In: American Journal of Human Genetics. 108, 1, p. 84-99 16 p.

    Research output: Contribution to journalArticlepeer-review

  5. Global Public Perceptions of Genomic Data Sharing: What Shapes the Willingness to Donate DNA and Health Data?

    Middleton, A., Milne, R., Almarri, M. A., Anwer, S., Atutornu, J., Baranova, E. E., Bevan, P., Cerezo, M., Cong, Y., Critchley, C., Fernow, J., Goodhand, P., Hasan, Q., Hibino, A., Houeland, G., Howard, H. C., Hussain, S. Z., Malmgren, C. I., Izhevskaya, V. L., Jędrzejak, A. & 29 others, Jinhong, C., Kimura, M., Kleiderman, E., Leach, B., Liu, K., Mascalzoni, D., Mendes, Á., Minari, J., Wang, N., Nicol, D., Niemiec, E., Patch, C., Pollard, J., Prainsack, B., Rivière, M., Robarts, L., Roberts, J., Romano, V., Sheerah, H. A., Smith, J., Soulier, A., Steed, C., Stefànsdóttir, V., Tandre, C., Thorogood, A., Voigt, T. H., West, A. V., Yoshizawa, G. & Morley, K. I., 1 Oct 2020, In: American Journal of Human Genetics. 107, 4, p. 743-752 10 p.

    Research output: Contribution to journalArticlepeer-review

  6. Loss-of-function myeloperoxidase mutations are associated with increased neutrophil counts and pustular skin disease

    The APRICOT and PLUM study team, Hueffmeier, U., Baum, P., Visvanathan, S., Barker, J. N. & Smith, C. H., 3 Sep 2020, In: American Journal of Human Genetics. 107, 3, p. 539-543

    Research output: Contribution to journalArticlepeer-review

  7. Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects

    Zhao, Y., Diacou, A., Johnston, H. R., Musfee, F. I., McDonald-McGinn, D. M., McGinn, D., Crowley, T. B., Repetto, G. M., Swillen, A., Breckpot, J., Vermeesch, J. R., Kates, W. R., Digilio, M. C., Unolt, M., Marino, B., Pontillo, M., Armando, M., Di Fabio, F., Vicari, S., van den Bree, M. & 30 others, Moss, H., Owen, M. J., Murphy, K. C., Murphy, C. M., Murphy, D., Schoch, K., Shashi, V., Tassone, F., Simon, T. J., Shprintzen, R. J., Campbell, L., Philip, N., Heine-Suñer, D., García-Miñaúr, S., Fernández, L., Antonarakis, S. E., Biondi, M., Boot, E., Breetvelt, E., Busa, T., Butcher, N., Buzzanca, A., Carmel, M., Cleynen, I., Cutler, D., Dallapiccola, B., de la Fuente Sanches, M. A., Epstein, M. P., Evers, R. & Lattanzi, G., 2 Jan 2020, In: American Journal of Human Genetics. 106, 1, p. 26-40 15 p.

    Research output: Contribution to journalArticlepeer-review

  8. Better governance of human genomic data: Clarifying the issues and balancing competing values

    O'Doherty, K., Shabani, M., Dove, E. S., Bentzen, H. B., Borry, P., Burgess, M., Chalmers, D., de Vries, J., Eckstein, L., Fullerton, S., Juengst, E., Kato, K., Kaye, J., Knoppers, B. M., Koenig, B., Manson, S., McGrail, K., McGuire, A. L., Meslin, E. M., Nicol, D. & 4 others, Prainsack, B., Terry, S. F., Thorogood, A. & Burke, W., 2020, In: American Journal of Human Genetics.

    Research output: Contribution to journalArticlepeer-review

  9. GWAS Identifies 44 Independent Associated Genomic Loci for Self-Reported Adult Hearing Difficulty in UK Biobank

    Wells, H. R. R., Freidin, M. B., Zainul Abidin, F. N., Payton, A., Dawes, P., Munro, K. J., Morton, C. C., Moore, D. R., Dawson, S. J. & Williams, F. M. K., 3 Oct 2019, In: American Journal of Human Genetics. 105, 4, p. 788-802 15 p.

    Research output: Contribution to journalArticlepeer-review

  10. Comparing within- and between-family polygenic score prediction

    Selzam, S., Ritchie, S. J., Pingault, J-B., Reynolds, C. A., O'Reilly, P. & Plomin, R., 1 Aug 2019, In: American Journal of Human Genetics. 105, 2, p. 351-363 13 p.

    Research output: Contribution to journalArticlepeer-review

  11. Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology

    Spracklen, C. N., Karaderi, T., Yaghootkar, H., Schurmann, C., Fine, R. S., Kutalik, Z., Preuss, M. H., Lu, Y., Wittemans, L. B. L., Adair, L. S., Allison, M., Amin, N., Auer, P. L., Bartz, T. M., Blüher, M., Boehnke, M., Borja, J. B., Bork-Jensen, J., Broer, L., Chasman, D. I. & 84 others, Chen, Y. D. I., Chirstofidou, P., Demirkan, A., van Duijn, C. M., Feitosa, M. F., Garcia, M. E., Graff, M., Grallert, H., Grarup, N., Guo, X., Haesser, J., Hansen, T., Harris, T. B., Highland, H. M., Hong, J., Ikram, M. A., Ingelsson, E., Jackson, R., Jousilahti, P., Kähönen, M., Kizer, J. R., Kovacs, P., Kriebel, J., Laakso, M., Lange, L. A., Lehtimäki, T., Li, J., Li-Gao, R., Lind, L., Luan, J., Lyytikäinen, L. P., MacGregor, S., Mackey, D. A., Mahajan, A., Mangino, M., Männistö, S., McCarthy, M. I., McKnight, B., Medina-Gomez, C., Meigs, J. B., Molnos, S., Mook-Kanamori, D., Morris, A. P., de Mutsert, R., Nalls, M. A., Nedeljkovic, I., North, K. E., Pennell, C. E., Pradhan, A. D., Province, M. A., Raitakari, O. T., Raulerson, C. K., Reiner, A. P., Ridker, P. M., Ripatti, S., Roberston, N., Rotter, J. I., Salomaa, V., Sandoval-Zárate, A. A., Sitlani, C. M., Spector, T. D., Strauch, K., Stumvoll, M., Taylor, K. D., Thuesen, B., Tönjes, A., Uitterlinden, A. G., Venturini, C., Walker, M., Wang, C. A., Wang, S., Wareham, N. J., Willems, S. M., Willems van Dijk, K., Wilson, J. G., Wu, Y., Yao, J., Young, K. L., Langenberg, C., Frayling, T. M., Kilpeläinen, T. O., Lindgren, C. M., Loos, R. J. F. & Mohlke, K. L., 3 Jul 2019, In: American Journal of Human Genetics. 105, 1, p. 15-28 14 p.

    Research output: Contribution to journalArticlepeer-review

  12. Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

    Deciphering Developmental Disorders Study, UK10K Consortium, NIHR BioResource, Simpson, M. A., Prigmore, E., Jones, P., Armstrong, R., Bennett, C., Berg, J., Bernhard, B., Cooper, N., Cox, H., Flinter, F., Fry, A., Gill, H., Gray, E., Harrison, V., Irving, M., Josifova, D., Langman, C. & 44 others, Mohammed, S., Moore, D., Murphy, H., Roberts, J., Tischkowitz, M., Wright, M., Bolton, P., Breen, G., Clement, G., Collier, D., Curran, S., Ellis, P., Evans, D., Hart, D., Hubbard, T., Hysi, P., Jamshidi, Y., Lachance, G., Lopes, M., McGuffin, P., Metrustry, S., Moayyeri, A., Onoufriadis, A., Parr, J. R., Quaye, L., Sharp, S. I., Small, K., Spasic-Boskovic, O., Stevens, E., Valdes, A., Walters, J. T. R., Wang, Y., Bennett, D., Bradley, J. R., Davis, J., Koziell, A., Machado, R., Richards, M., Smith, K., Southgate, L., Thomas, E., Trembath, R., Williamson, C. & Yong, P., 2 May 2019, In: American Journal of Human Genetics. 104, 5, p. 948-956 9 p.

    Research output: Contribution to journalArticlepeer-review

  13. TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways

    Dorval, G., Kuzmuk, V., Gribouval, O., Welsh, G. I., Bierzynska, A., Schmitt, A., Miserey-lenkei, S., Koziell, A., Haq, S., Benmerah, A., Mollet, G., Boyer, O., Saleem, M. A. & Antignac, C., 7 Feb 2019, In: American Journal of Human Genetics. 104, 2, p. 348-355 8 p.

    Research output: Contribution to journalArticlepeer-review

  14. 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. & 132 others, 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 journalArticlepeer-review

  15. Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders

    CHARGE Inflammation Working Group, LifeLines Cohort Study, Rose, L. M., Wu, Y., Lin, H., Macé, A., Abbasi, A., Smith, A. V., Mueller, C., Zhao, J. H., Amini, M., Wilson, J. F., Jamshidi, Y., Uher, R., Hicks, A., Morris, A. P., Stacey, D., Eriksson, J., Chen, W-M., Li, X. & 39 others, Cheng, Y-C., Zhao, J. H., Huang, H., Liu, Y., Huang, J., Joshi, P. K., Lehne, B., Stott, D. J., Menni, C., Peters, A., Smit, J. H., Williams, S. R., Campbell, H., Chen, Y-DI., James, A. L., Smith, E. N., Larsson, A., Wang, Y., Scott, W. R., Evans, D. M., Madden, P. A. F., Lachance, G., Clarke, R., Harris, T. B., Scott, R. A., Hicks, A., Li, J. Z., Chambers, J. C., Martin, N. G., Scott, R. A., Whitfield, J. B., Spector, T. D., Eriksson, J., Wilson, J. F., Palmer, L. J., Murray, S. S., Evans, D. M., Schmidt, H. & Smith, G. D., 1 Nov 2018, In: American Journal of Human Genetics. 103, 5, p. 691-706 16 p.

    Research output: Contribution to journalArticlepeer-review

  16. FUT2 Variants Confer Susceptibility to Familial Otitis Media

    Santos-Cortez, R. L. P., Chiong, C. M., Frank, D. N., Ryan, A. F., Giese, A. P. J., Bootpetch Roberts, T., Daly, K. A., Steritz, M. J., Szeremeta, W., Pedro, M., Pine, H., Yarza, T. K. L., Scholes, M. A., Llanes, E. G. D. V., Yousaf, S., Friedman, N., Tantoco, M. L. C., Wine, T. M., Labra, P. J., Benoit, J. & 40 others, Ruiz, A. G., de la Cruz, R. A. R., Greenlee, C., Yousaf, A., Cardwell, J., Nonato, R. M. A., Ray, D., Ong, K. M. C., So, E., Robertson, C. E., Dinwiddie, J., Lagrana-Villagracia, S. M., Gubbels, S. P., Shaikh, R. S., Cass, S. P., Einarsdottir, E., Lee, N. R., Schwartz, D. A., Gloria-Cruz, T. L. I., Bamshad, M. J., Yang, I. V., Kere, J., Abes, G. T., Prager, J. D., Riazuddin, S., Chan, A. L., Yoon, P. J., Nickerson, D. A., Cutiongco-de la Paz, E. M., Streubel, S-O., Reyes-Quintos, M. R. T., Jenkins, H. A., Mattila, P., Chan, K. H., Mohlke, K. L., Leal, S. M., Hafrén, L., Chonmaitree, T., Sale, M. M. & Ahmed, Z. M., 25 Oct 2018, (E-pub ahead of print) In: American Journal of Human Genetics.

    Research output: Contribution to journalArticlepeer-review

  17. Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

    NIHR BioResource Rare Diseases Consortium, 5 Jul 2018, In: American Journal of Human Genetics. 103, 1, p. 3-18 16 p.

    Research output: Contribution to journalArticlepeer-review

  18. De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.

    Ito, Y., Carss, K. J., Duarte, S. T., Hartley, T., Keren, B., Kurian, M. A., Marey, I., Charles, P., Mendonca, C., Nava, C., Pfundt, R., Sanchis-Juan, A., van Bokhoven, H., van Essen, A., van Ravenswaaij-Arts, C., NIHR BioResource, Koziell, A., Care4Rare Canada Consortium, Boycott, K. M., Kernohan, K. D. & 2 others, Dyack, S. & Raymond, F. L., 5 Jul 2018, In: American Journal of Human Genetics. 103, 1, p. 144-153 9 p.

    Research output: Contribution to journalArticlepeer-review

  19. Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated Toxicity

    Zarouchlioti, C., Sanchez-Pintado, B., Hafford Tear, N. J., Klein, P., Liskova, P., Dulla, K., Semo, M., Vugler, A. A., Muthusamy, K., Dudakova, L., Levis, H. J., Skalicka, P., Hysi, P., Cheetham, M. E., Tuft, S. J., Adamson, P., Hardcastle, A. J. & Davidson, A. E., 8 Mar 2018, (E-pub ahead of print) In: American Journal of Human Genetics.

    Research output: Contribution to journalArticlepeer-review

  20. Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

    Oláhová, M., Yoon, W. H., Thompson, K., Jangam, S., Fernandez, L., Davidson, J. M., Kyle, J. E., Grove, M. E., Fisk, D. G., Kohler, J. N., Holmes, M., Dries, A. M., Huang, Y., Zhao, C., Contrepois, K., Zappala, Z., Frésard, L., Waggott, D., Zink, E. M., Kim, Y-M. & 193 others, Heyman, H. M., Stratton, K. G., Webb-Robertson, B-J. M., Adams, D. R., Alejandro, M. E., Allard, P., Azamian, M. S., Bacino, C. A., Balasubramanyam, A., Barseghyan, H., Batzli, G. F., Beggs, A. H., Behnam, B., Bican, A., Bick, D. P., Birch, C. L., Bonner, D., Boone, B. E., Bostwick, B. L., Briere, L. C., Brown, D. M., Brush, M., Burke, E. A., Burrage, L. C., Chen, S., Clark, G. D., Coakley, T. R., Cogan, J. D., Cooper, C. M., Cope, H., Craigen, W. J., D’Souza, P., Davids, M., Dayal, J. G., Dell’Angelica, E. C., Dhar, S. U., Dillon, A., Dipple, K. M., Donnell-Fink, L. A., Dorrani, N., Dorset, D. C., Douine, E. D., Draper, D. D., Eckstein, D. J., Emrick, L. T., Eng, C. M., Eskin, A., Esteves, C., Estwick, T., Ferreira, C., Fogel, B. L., Friedman, N. D., Gahl, W. A., Glanton, E., Godfrey, R. A., Goldstein, D. B., Gould, S. E., Gourdine, J-P. F., Groden, C. A., Gropman, A. L., Haendel, M., Hamid, R., Hanchard, N. A., Handley, L. H., Herzog, M. R., Holm, I. A., Hom, J., Howerton, E. M., Jacob, H. J., Jain, M., Jiang, Y., Johnston, J. M., Jones, A. L., Kohane, I. S., Krasnewich, D. M., Krieg, E. L., Krier, J. B., Lalani, S. R., Lau, C. C., Lazar, J., Lee, B. H., Lee, H., Levy, S. E., Lewis, R. A., Lincoln, S. A., Lipson, A., Loo, S. K., Loscalzo, J., Maas, R. L., Macnamara, E. F., MacRae, C. A., Maduro, V. V., Majcherska, M. M., Malicdan, M. C. V., Mamounas, L. A., Manolio, T. A., Markello, T. C., Marom, R., Martínez-Agosto, J. A., Marwaha, S., May, T., McConkie-Rosell, A., McCormack, C. E., McCray, A. T., Might, M., Moretti, P. M., Morimoto, M., Mulvihill, J. J., Murphy, J. L., Muzny, D. M., Nehrebecky, M. E., Nelson, S. F., Newberry, J. S., Newman, J. H., Nicholas, S. K., Novacic, D., Orange, J. S., Pallais, J. C., Palmer, C. G. S., Papp, J. C., Parker, N. H., Pena, L. D. M., Phillips III, J. A., Posey, J. E., Postlethwait, J. H., Potocki, L., Pusey, B. N., Reuter, C. M., Robertson, A. K., Rodan, L. H., Rosenfeld, J. A., Sampson, J. B., Samson, S. L., Schoch, K., Schroeder, M. C., Scott, D. A., Sharma, P., Shashi, V., Silverman, E. K., Sinsheimer, J. S., Smith, K. S., Spillmann, R. C., Splinter, K., Stoler, J. M., Stong, N., Sullivan, J. A., Sweetser, D. A., Tifft, C. J., Toro, C., Tran, A. A., Urv, T. K., Valivullah, Z. M., Vilain, E., Vogel, T. P., Wahl, C. E., Walley, N. M., Walsh, C. A., Ward, P. A., Waters, K. M., Westerfield, M., Wise, A. L., Wolfe, L. A., Worthey, E. A., Yamamoto, S., Yang, Y., Yu, G., Zastrow, D. B., Zheng, A., Snyder, M., Merker, J. D., Montgomery, S. B., Fisher, P. G., Feichtinger, R. G., Mayr, J. A., Hall, J., Barbosa, I. A., Simpson, M. A., Deshpande, C., Koeller, D. M., Metz, T. O., Morris, A. A., Schelley, S., Cowan, T., Friederich, M. W., McFarland, R., Van Hove, J. L. K., Enns, G. M., Ashley, E. A., Wangler, M. F., Taylor, R. W., Bellen, H. J., Bernstein, J. A. & Wheeler, M. T., 22 Feb 2018, (E-pub ahead of print) In: American Journal of Human Genetics.

    Research output: Contribution to journalArticlepeer-review

  21. Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects

    Medina-Gomez, C., Kemp, J. P., Trajanoska, K., Luan, J., Chesi, A., Ahluwalia, T. S., Mook-Kanamori, D. O., Ham, A., Hartwig, F. P., Evans, D. S., Joro, R., Nedeljkovic, I., Zheng, H-F., Zhu, K., Atalay, M., Liu, C-T., Nethander, M., Broer, L., Porleifsson, G., Mullin, B. H. & 69 others, Handelman, S. K., Nalls, M. A., Jessen, L. E., Heppe, D. H. M., Richards, J. B., Wang, C., Chawes, B., Schraut, K. E., Amin, N., Wareham, N., Karasik, D., Van der Velde, N., Ikram, M. A., Zemel, B. S., Zhou, Y., Carlsson, C. J., Liu, Y., McGuigan, F. E., Boer, C. G., Bønnelykke, K., Ralston, S. H., Robbins, J. A., Walsh, J. P., Zillikens, M. C., Langenberg, C., Li-Gao, R., Williams, F. M. K., Harris, T. B., Akesson, K., Jackson, R. D., Sigurdsson, G., den Heijer, M., van der Eerden, B. C. J., van de Peppel, J., Spector, T. D., Pennell, C., Horta, B. L., Felix, J. F., Zhao, J. H., Wilson, S. G., de Mutsert, R., Bisgaard, H., Styrkársdóttir, U., Jaddoe, V. W., Orwoll, E., Lakka, T. A., Scott, R., Grant, S. F. A., Lorentzon, M., van Duijn, C. M., Wilson, J. F., Stefansson, K., Psaty, B. M., Kiel, D. P., Ohlsson, C., Ntzani, E., van Wijnen, A. J., Forgetta, V., Ghanbari, M., Logan, J. G., Williams, G. R., Bassett, J. H. D., Croucher, P. I., Evangelou, E., Uitterlinden, A. G., Ackert-Bicknell, C. L., Tobias, J. H., Evans, D. M. & Rivadeneira, F., 4 Jan 2018, (E-pub ahead of print) In: American Journal of Human Genetics. 102, 1, p. 88-102 15 p.

    Research output: Contribution to journalArticlepeer-review

  22. DNA Methylation Analysis Identifies Loci for Blood Pressure Regulation

    Richard, M. A., Huan, T., Ligthart, S., Gondalia, R., Jhun, M. A., Brody, J. A., Irvin, M. R., Marioni, R., Shen, J., Tsai, P-C., Montasser, M. E., Jia, Y., Syme, C., Salfati, E. L., Boerwinkle, E., Guan, W., Mosley, T. H., Bressler, J., Morrison, A. C., Liu, C. & 31 others, Mendelson, M. M., Uitterlinden, A. G., van Meurs, J. B., Franco, O. H., Zhang, G., Li, Y., Stewart, J. D., Bis, J. C., Psaty, B. M., Chen, Y-D. I., Kardia, S. L. R., Zhao, W., Turner, S. T., Absher, D., Aslibekyan, S., Starr, J. M., McRae, A. F., Hou, L., Just, A. C., Schwartz, J. D., Vokonas, P. S., Menni, C., Spector, T. D., Shuldiner, A., Damcott, C. M., Rotter, J. I., Palmas, W., Liu, Y., Paus, T., Bell, J. T. & BIOS Consortium, 30 Nov 2017, In: American Journal of Human Genetics.

    Research output: Contribution to journalArticlepeer-review

  23. Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements

    Demaerel, W., Hestand, M. S., Vergaelen, E., Swillen, A., López-Sánchez, M., Pérez-Jurado, L. A., Mcdonald-Mcginn, D., Zackai, E., Emanuel, B., Morrow, B. E., Breckpot, J., Devriendt, K., Vermeesch, J., International 22q11.2 Brain and Behavior Consortium, Antshel, K., Arango, C., Armando, M., Bassett, A., Bearden, C., Boot, E. & 31 others, Bravo-sanchez, M., Breetvelt, E., Busa, T., Butcher, N., Campbell, L., Carmel, M., Chow, E., Crowley, T. B., Cubells, J., Cutler, D., Demaerel, W., Digilio, M. C., Duijff, S., Eliez, S., Emanuel, B., Epstein, M., Evers, R., Fernandez Garcia-moya, L., Fiksinski, A., Fraguas, D., Fremont, W., Fritsch, R., Garcia-Minaur, S., Golden, A., Gothelf, D., Guo, T., Gur, R., Murphy, D., Murphy, K., Murphy, C. & Van Amelsvoort, T., 5 Oct 2017, In: American Journal of Human Genetics. 101, 4, p. 616-622

    Research output: Contribution to journalArticlepeer-review

  24. The Genetic Legacy of Zoroastrianism in Iran and India: Insights into Population Structure, Gene Flow, and Selection

    López, S., Thomas, M. G., van Dorp, L., Ansari-Pour, N., Stewart, S., Jones, A. L., Jelinek, E., Chikhi, L., Parfitt, T., Bradman, N., Weale, M. E. & Hellenthal, G., 7 Sep 2017, In: American Journal of Human Genetics. 101, 3, p. 353-368

    Research output: Contribution to journalArticlepeer-review

  25. 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. & 83 others, 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., Sidore, C., Tybjaerg-Hansen, A., Varbo, A., Zoledziewska, M., Finan, C., Hatzikotoulas, K., Hendricks, A. E., Kemp, J. P., Moayyeri, A., Panoutsopoulou, K., Szpak, M., Wilson, S. G., Boehnke, M., Cucca, F., Di Angelantonio, E., Langenberg, C., Lindgren, C., McCarthy, M. I., Morris, A. P., Nordestgaard, B. G., Scott, R. A., Tobin, M. D., Wareham, N. J., Burton, P., Chambers, J. C., Smith, G. D., Dedoussis, G., Felix, J. F., Franco, O. H., Gambaro, G., Gasparini, P., Hammond, C. J., Hofman, A., Jaddoe, V. W. V., Kleber, M., Kooner, J. S., Perola, M., Relton, C., Ring, S. M., Rivadeneira, F., Salomaa, V., Spector, T. D., Stegle, O., Toniolo, D., Uitterlinden, A. G., Barroso, I., Greenwood, C. M. T., Perry, J. R. B., Walker, B. R., Butterworth, A. S., Xue, Y., Durbin, R., Small, K. S., Soranzo, N., Timpson, N. J. & Zeggini, E., 1 Jun 2017, In: American Journal of Human Genetics. 100, 6, p. 865–884

    Research output: Contribution to journalArticlepeer-review

  26. Large-Scale Identification of Common Trait and Disease Variants Affecting Gene Expression

    Hauberg, M. E., Zhang, W., Giambartolomei, C., Franzén, O., Morris, D. L., Vyse, T. J., Ruusalepp, A., Fromer, M., Sieberts, S. K., Johnson, J. S., Ruderfer, D. M., Shah, H. R., Klei, L. L., Dang, K. K., Perumal, T. M., Logsdon, B. A., Mahajan, M. C., Mangravite, L. M., Essioux, L., Toyoshiba, H. & 14 others, Gur, R. E., Hahn, C-G., Lewis, D. A., Haroutunian, V., Peters, M. A., Lipska, B. K., Buxbaum, J. D., Hirai, K., Domenici, E., Devlin, B., Sklar, P., Schadt, E. E., Björkegren, J. L. M. & Roussos, P., 25 May 2017, In: American Journal of Human Genetics. 100, 6, p. 885–894

    Research output: Contribution to journalArticlepeer-review

  27. Genetic Regulation of Adipose Gene Expression and Cardio-Metabolic Traits

    Civelek, M., Wu, Y., Pan, C., Raulerson, C. K., Ko, A., He, A., Tilford, C., Saleem, N. K., Stančáková, A., Scott, L. J., Fuchsberger, C., Stringham, H. M., Jackson, A. U., Narisu, N., Chines, P. S., Small, K. S., Kuusisto, J., Parks, B. W., Pajukanta, P., Kirchgessner, T. & 6 others, Collins, F. S., Gargalovic, P. S., Boehnke, M., Laakso, M., Mohlke, K. L. & Lusis, A. J., 2 Mar 2017, In: American Journal of Human Genetics. 100, 3, p. 428-443 16 p.

    Research output: Contribution to journalArticlepeer-review

  28. Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration

    Arno, G., Carss, K. J., Hull, S., Zihni, C., Robson, A. G., Fiorentino, A., Hardcastle, A. J., Holder, G. E., Cheetham, M. E., Plagnol, V., Moore, A. T., Raymond, F. L., Matter, K., Balda, M. S., Webster, A. R., UK Inherited Retinal Disease Consortium & Koziell, A., 2 Feb 2017, In: American Journal of Human Genetics. 100, 2, p. 334-342 9 p.

    Research output: Contribution to journalArticlepeer-review

  29. Decreased STARD10 Expression Is Associated with Defective Insulin Secretion in Humans and Mice

    Carrat, G. R., Hu, M., Nguyen-Tu, M-S., Chabosseau, P., Gaulton, K. J., van de Bunt, M., Siddiq, A., Falchi, M., Thurner, M., Canouil, M., Pattou, F., Leclerc, I., Pullen, T. J., Cane, M. C., Prabhala, P., Greenwald, W., Schulte, A., Marchetti, P., Ibberson, M., MacDonald, P. E. & 6 others, Manning Fox, J. E., Gloyn, A. L., Froguel, P., Solimena, M., McCarthy, M. I. & Rutter, G. A., 2 Feb 2017, In: American Journal of Human Genetics. 100, 2, p. 238-256 19 p.

    Research output: Contribution to journalArticlepeer-review

  30. Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23

    Lee, J. Y. W., Hsu, C. K., Michael, M., Nanda, A., Liu, L., McMillan, J. R., Pourreyron, C., Takeichi, T., Tolar, J., Reid, E., Hayday, T., Blumen, S. C., Abu-Mouch, S., Straussberg, R., Basel-Vanagaite, L., Barhum, Y., Zouabi, Y., Al-Ajmi, H., Huang, H. Y., Lin, T. C. & 6 others, Akiyama, M., Lee, J. Y. Y., McLean, W. H. I., Simpson, M. A., Parsons, M. & McGrath, J. A., 2 Feb 2017, In: American Journal of Human Genetics. 100, 2, p. 364-370

    Research output: Contribution to journalArticlepeer-review

  31. The Genetic Architecture of Gene Expression in Peripheral Blood

    Lloyd-Jones, L. R., Holloway, A., McRae, A., Yang, J., Small, K., Zeng, B., Bakshi, A., Metspalu, A., Dermitzakis, M., Gibson, G., Spector, T., Montgomery, G., Esko, T., Visscher, P. M. & Powell, J. E., Feb 2017, In: American Journal of Human Genetics.

    Research output: Contribution to journalArticlepeer-review

  32. A Genome-wide Association Study Identifies Risk Alleles in Plasminogen and P4HA2 Associated with Giant Cell Arteritis

    Carmona, F. D., Vaglio, A., Mackie, S. L., Hernández-Rodríguez, J., Monach, P. A., Castañeda, S., Solans, R., Morado, I. C., Narváez, J., Ramentol-Sintas, M., Pease, C. T., Dasgupta, B., Watts, R., Khalidi, N., Langford, C. A., Ytterberg, S., Boiardi, L., Beretta, L., Govoni, M., Emmi, G. & 116 others, Bonatti, F., Cimmino, M. A., Witte, T., Neumann, T., Holle, J., Schönau, V., Sailler, L., Papo, T., Haroche, J., Mahr, A., Mouthon, L., Molberg, Ø., Diamantopoulos, A. P., Voskuyl, A., Brouwer, E., Daikeler, T., Berger, C. T., Molloy, E. S., O'Neill, L., Blockmans, D., Lie, B. A., Mclaren, P., Vyse, T. J., Wijmenga, C., Allanore, Y., Koeleman, B. P. C., Callejas, J. L., Caminal-Montero, L., Corbera-Bellalta, M., de Miguel, E., López, J. B. D., García-Villanueva, M. J., Gómez-Vaquero, C., Guijarro-Rojas, M., Hidalgo-Conde, A., Marí-Alfonso, B., Berriochoa, A. M., Zapico, A. M., Martínez-Taboada, V. M., Miranda-Filloy, J. A., Monfort, J., Ortego-Centeno, N., Pérez-Conesa, M., Prieto-González, S., Raya, E., Fernández, R. R., Sánchez-Martín, J., Sopeña, B., Tío, L., Unzurrunzaga, A., Gough, A., Isaacs, J. D., Green, M., McHugh, N., Hordon, L., Kamath, S., Nisar, M., Patel, Y., Yee, C. S., Stevens, R., Nandi, P., Nandagudi, A., Jarrett, S., Li, C., Levy, S., Mollan, S., Salih, A., Wordsworth, O., Sanders, E., Roads, E., Gill, A., Carr, L., Routledge, C., Culfear, K., Nugaliyadde, A., James, L., Spimpolo, J., Kempa, A., Mackenzie, F., Fong, R., Peters, G., Rowbotham, B., Masqood, Z., Hollywood, J., Gondo, P., Wood, R., Martin, S., Rashid, L. H., Robinson, J. I., Morgan, M., Sorensen, L., Taylor, J., Carette, S., Chung, S., Cuthbertson, D., Forbess, L. J., Gewurz-Singer, O., Hoffman, G. S., Koening, C. L., Maksimowicz-McKinnon, K. M., McAlear, C. A., Moreland, L. W., Pagnoux, C., Seo, P., Specks, U., Spiera, R. F., Sreih, A., Warrington, K. J., Weisman, M., Barrett, J. H., Cid, M. C., Salvarani, C., Merkel, P. A., Morgan, A. W., González-Gay, M. A. & Martín, J., 5 Jan 2017, In: American Journal of Human Genetics. 100, 1, p. 64-74 11 p.

    Research output: Contribution to journalArticlepeer-review

  33. Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

    Carss, K. J., Arno, G., Erwood, M., Stephens, J., Sanchis-Juan, A., Hull, S., Megy, K., Grozeva, D., Dewhurst, E., Malka, S., Plagnol, V., Penkett, C., Stirrups, K., Rizzo, R., Wright, G., Josifova, D., Bitner-Glindzicz, M., Scott, R. H., Clement, E., Allen, L. & 290 others, Armstrong, R., Brady, A. F., Carmichael, J., Chitre, M., Henderson, R. H. H., Hurst, J., MacLaren, R. E., Murphy, E., Paterson, J., Rosser, E., Thompson, D. A., Wakeling, E., Ouwehand, W. H., Michaelides, M., Moore, A. T., Aitman, T., Alachkar, H., Ali, S., Allen, L., Allsup, D., Ambegaonkar, G., Anderson, J., Antrobus, R., Armstrong, R., Arno, G., Arumugakani, G., Ashford, S., Astle, W., Attwood, A., Austin, S., Bacchelli, C., Bakchoul, T., Bariana, T. K., Baxendale, H., Bennett, D., Bethune, C., Bibi, S., Bitner-Glindzicz, M., Bleda, M., Boggard, H., Bolton-Maggs, P., Booth, C., Brady, A., Brown, M., Browning, M., Bryson, C., Burns, S., Calleja, P., Canham, N., Carmichael, J., Carss, K., Caulfield, M., Chalmers, E., Chandra, A., Chinnery, P., Chitre, M., Church, C., Clement, E., Clements-Brod, N., Clowes, V., Coghlan, G., Collins, P., Cooper, N., Creaser-Myers, A., DaCosta, R., Daugherty, L., Davies, S., Davis, J., De Vries, M., Deegan, P., Deevi, S. V. V., Deshpande, C., Devlin, L., Dewhurst, E., Doffinger, R., Dormand, N., Drewe, E., Edgar, D., Egner, W., Erber, W. N., Erwood, M., Everington, T., Favier, R., Firth, H., Fletcher, D., Flinter, F., Fox, J. C., Frary, A., Freson, K., Furie, B., Furnell, A., Gale, D., Gardham, A., Gattens, M., Ghali, N., Ghataorhe, P. K., Ghurye, R., Gibbs, S., Gilmour, K., Gissen, P., Goddard, S., Gomez, K., Gordins, P., Gräf, S., Greene, D., Greenhalgh, A., Greinacher, A., Grigoriadou, S., Grozeva, D., Hackett, S., Hadinnapola, C., Hague, R., Haimel, M., Halmagyi, C., Hammerton, T., Hart, D., Hayman, G., Heemskerk, J. W. M., Henderson, R., Hensiek, A., Henskens, Y., Herwadkar, A., Holden, S., Holder, M., Holder, S., Hu, F., Huissoon, A., Humbert, M., Hurst, J., James, R., Jolles, S., Josifova, D., Kazmi, R., Keeling, D., Kelleher, P., Kelly, A. M., Kennedy, F., Kiely, D., Kingston, N., Koziell, A., Krishnakumar, D., Kuijpers, T. W., Kumararatne, D., Kurian, M., Laffan, M. A., Lambert, M. P., Allen, H. L., Lawrie, A., Lear, S., Lees, M., Lentaigne, C., Liesner, R., Linger, R., Longhurst, H., Lorenzo, L., Machado, R., Mackenzie, R., MacLaren, R., Maher, E., Maimaris, J., Mangles, S., Manson, A., Mapeta, R., Markus, H. S., Martin, J., Masati, L., Mathias, M., Matser, V., Maw, A., McDermott, E., McJannet, C., Meacham, S., Meehan, S., Megy, K., Mehta, S., Michaelides, M., Millar, C. M., Moledina, S., Moore, A., Morrell, N., Mumford, A., Murng, S., Murphy, E., Nejentsev, S., Noorani, S., Nurden, P., Oksenhendler, E., Ouwehand, W. H., Papadia, S., Park, S. M., Parker, A., Pasi, J., Patch, C., Paterson, J., Payne, J., Peacock, A., Peerlinck, K., Penkett, C. J., Pepke-Zaba, J., Perry, D. J., Pollock, V., Polwarth, G., Ponsford, M., Qasim, W., Quinti, I., Rankin, S., Rankin, J., Raymond, F. L., Rehnstrom, K., Reid, E., Rhodes, C. J., Richards, M., Richardson, S., Richter, A., Roberts, I., Rondina, M., Rosser, E., Roughley, C., Rue-Albrecht, K., Samarghitean, C., Sanchis-Juan, A., Sandford, R., Santra, S., Sargur, R., Savic, S., Schulman, S., Schulze, H., Scott, R., Scully, M., Seneviratne, S., Sewell, C., Shamardina, O., Shipley, D., Simeoni, I., Sivapalaratnam, S., Smith, K., Sohal, A., Southgate, L., Staines, S., Staples, E., Stauss, H., Stein, P., Stephens, J., Stirrups, K., Stock, S., Suntharalingam, J., Tait, R. C., Talks, K., Tan, Y., Thachil, J., Thaventhiran, J., Thomas, E., Thomas, M., Thompson, D., Thrasher, A., Tischkowitz, M., Titterton, C., Toh, C. H., Toshner, M., Treacy, C., Trembath, R., Tuna, S., Turek, W., Turro, E., Van Geet, C., Veltman, M., Vogt, J., von Ziegenweldt, J., Noordegraaf, A. V., Wakeling, E., Wanjiku, I., Warner, T. Q., Wassmer, E., Watkins, H., Webster, A., Welch, S., Westbury, S., Wharton, J., Whitehorn, D., Wilkins, M., Willcocks, L., Williamson, C., Woods, G., Wort, J., Yeatman, N., Yong, P., Young, T., Yu, P., Webster, A. R. & Raymond, F. L., 5 Jan 2017, In: American Journal of Human Genetics. 100, 1, p. 75-90 16 p.

    Research output: Contribution to journalArticlepeer-review

  34. Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number

    Thompson, K., Majd, H., Dallabona, C., Reinson, K., King, MS., Alston, CL., He, L., Lodi, T., Jones, SA., Fattal-Valevski, A., Fraenkel, ND., Saada, A., Haham, A., Isohanni, P., Vara, R., Barbosa, IA., Simpson, M. A., Deshpande, C., Puusepp, S., Bonnen, PE. & 8 others, Rodenburg, RJ., Suomalainen, A., Õunap, K., Elpeleg, O., Ferrero, I., McFarland, R., Kunji, ER. S. & Taylor, RW., 6 Oct 2016, In: American Journal of Human Genetics. 99, 4, p. 860–876

    Research output: Contribution to journalArticlepeer-review

  35. Evidence that the 5p12 Variant rs10941679 Confers Susceptibility to Estrogen Receptor-Positive Breast Cancer through FGF10 and MRPS30 Regulation

    Ghoussaini, M., French, JD., Michailidou, K., Nord, S., Beesley, J., Canisus, S., Hillman, KM., Kaufmann, S., Sivakumaran, H., Moradi Marjaneh, M., Lee, JS., Dennis, J., Bolla, MK., Wang, Q., Dicks, E., Milne, RL., Hopper, JL., Southey, MC., Schmidt, MK., Broeks, A. & 103 others, Muir, K., Lophatananon, A., Fasching, PA., Beckmann, MW., Fletcher, O., Johnson, N., Sawyer, EJ., Tomlinson, I., Burwinkel, B., Marme, F., Guénel, P., Truong, T., Bojesen, SE., Flyger, H., Benitez, J., González-Neira, A., Alonso, M. R., Pita, G., Neuhausen, SL., Anton-Culver, H., Brenner, H., Arndt, V., Meindl, A., Schmutzler, RK., Brauch, H., Hamann, U., Tessier, DC., Vincent, D., Nevanlinna, H., Khan, S., Matsuo, K., Ito, H., Dörk, T., Bogdanova, NV., Lindblom, A., Margolin, S., Mannermaa, A., Kosma, V-M., Wu, AH., Van Den Berg, D., Lambrechts, D., Floris, G., Chang-Claude, J., Rudolph, A., Radice, P., Barile, M., Couch, FJ., Hallberg, E., Giles, GG., Haiman, CA., Le Marchand, L., Goldberg, MS., Teo, SH., Yip, CH., Borresen-Dale, A-L., Zheng, W., Cai, Q., Winqvist, R., Pylkäs, K., Andrulis, IL., Devilee, P., Tollenaar, RA. E. M., García-Closas, M., Figueroa, J., Hall, P., Czene, K., Brand, JS., Darabi, H., Eriksson, M., Hooning, MJ., Koppert, LB., Li, J., Shu, X-O., Zheng, Y., Cox, A., Cross, SS., Shah, M., Rhenius, V., Choi, J-Y., Kang, D., Hartman, M., Chia, KS., Kabisch, M., Torres, D., Luccarini, C., Conroy, DM., Jakubowska, A., Lubinski, J., Sangrajrang, S., Brennan, P., Olswold, C., Slager, S., Shen, C-Y., Hou, M-F., Swerdlow, A., Schoemaker, MJ., Simard, J., Pharoah, PD. P., Kristensen, V., Chenevix-Trench, G., Easton, DF., Dunning, AM. & Edwards, SL., 15 Sep 2016, (E-pub ahead of print) In: American Journal of Human Genetics.

    Research output: Contribution to journalArticlepeer-review

  36. Adiposity-Dependent Regulatory Effects on Multi-tissue Transcriptomes

    Glastonbury, C. A., Viñuela, A., Buil, A., Halldorsson, G. H., Thorleifsson, G., Helgason, H., Thorsteinsdottir, U., Stefansson, K., Dermitzakis, E. T., Spector, T. D. & Small, K. S., 1 Sep 2016, In: American Journal of Human Genetics. 99, 3, p. 567-79 13 p.

    Research output: Contribution to journalArticlepeer-review

  37. ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects

    Izumi, K., Brett, M., Nishi, E., Drunat, S., Tan, E-S., Fujiki, K., Lebon, S., Cham, B., Masuda, K., Arakawa, M., Jacquinet, A., Yamazumi, Y., Chen, S-T., Verloes, A., Okada, Y., Katou, Y., Nakamura, T., Akiyama, T., Gressens, P., Foo, R. & 4 others, Passemard, S., Tan, E-C., El Ghouzzi, V. & Shirahige, K., 4 Aug 2016, In: American Journal of Human Genetics. 99, 2, p. 451–459

    Research output: Contribution to journalArticlepeer-review

  38. BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription

    Dias, C., Estruch, S. B., Graham, S. A., McRae, J., Sawiak, S. J., Hurst, J. A., Joss, S. K., Holder, S. E., Morton, J. E. V., Turner, C., Thevenon, J., Mellul, K., Sánchez-Andrade, G., Ibarra-Soria, X., Deriziotis, P., Santos, R. F., Lee, S-C., Faivre, L., Kleefstra, T., Liu, P. & 4 others, Hurles, M. E., DDD Study, Fisher, S. E. & Logan, D. W., 4 Aug 2016, In: American Journal of Human Genetics. 99, 2, p. 253-274 22 p.

    Research output: Contribution to journalArticlepeer-review

  39. Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons

    Harding, BN., Moccia, A., Drunat, S., Soukarieh, O., Tubeuf, H., Chitty, LS., Verloes, A., Gressens, P., El Ghouzzi, V., Joriot, S., Di Cunto, F., Martins, A., Passemard, S. & Bielas, SL., 4 Aug 2016, In: American Journal of Human Genetics. 99, 2, p. 511–520

    Research output: Contribution to journalArticlepeer-review

  40. Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia

    Wade, E. M., Daniel, P. B., Jenkins, Z. A., McInerney-Leo, A., Leo, P., Morgan, T., Addor, M. C., Adès, L. C., Bertola, D., Bohring, A., Carter, E., Cho, T. J., Duba, H. C., Fletcher, E., Kim, C. A., Krakow, D., Morava, E., Neuhann, T., Superti-Furga, A., Veenstra-Knol, I. & 10 others, Wieczorek, D., Wilson, L. C., Hennekam, R. C. M., Sutherland-Smith, A. J., Strom, T. M., Wilkie, A. O. M., Brown, M. A., Duncan, E. L., Markie, D. M. & Robertson, S. P., 4 Aug 2016, In: American Journal of Human Genetics. 99, 2, p. 392-406 15 p.

    Research output: Contribution to journalArticlepeer-review

  41. Polymorphism in a lincRNA Associates with a Doubled Risk of Pneumococcal Bacteremia in Kenyan Children

    Rautanen, A., Pirinen, M., Mills, TC., Rockett, KA., Strange, A., Ndungu, AW., Naranbhai, V., Gilchrist, JJ., Bellenguez, C., Freeman, C., Band, G., Bumpstead, SJ., Edkins, S., Giannoulatou, E., Gray, E., Dronov, S., Hunt, SE., Langford, C., Pearson, RD., Su, Z. & 37 others, Vukcevic, D., Macharia, AW., Uyoga, S., Ndila, C., Mturi, N., Njuguna, P., Mohammed, S., Berkley, JA., Mwangi, I., Mwarumba, S., Kitsao, BS., Lowe, BS., Morpeth, SC., Khandwalla, I., Blackwell, JM., Bramon, E., Brown, MA., Casas, JP., Corvin, A., Duncanson, A., Jankowski, J., Markus, HS., Mathew, CG., Palmer, CN. A., Plomin, R., Sawcer, SJ., Trembath, RC., Viswanathan, AC., Wood, NW., Deloukas, P., Peltonen, L., Williams, TN., Scott, J. AG., Chapman, SJ., Donnelly, P., Hill, AV. S. & Spencer, CC. A., 2 Jun 2016, In: American Journal of Human Genetics. 98, 6, p. 1092 - 1100

    Research output: Contribution to journalArticlepeer-review

  42. Identification of Common Genetic Variants Influencing Spontaneous Dizygotic Twinning and Female Fertility

    Mbarek, H., Steinberg, S., Nyholt, DR., Gordon, SD., Miller, MB., McRae, AF., Hottenga, JJ., Day, FR., Willemsen, G., de Geus, EJ., Davies, GE., Martin, HC., Penninx, BW., Jansen, R., McAloney, K., Vink, JM., Kaprio, J., Plomin, R., Spector, T. D., Magnusson, PK. & 17 others, Reversade, B., Harris, R. A., Aagaard, K., Kristjansson, RP., Olafsson, I., Eyjolfsson, GI., Sigurdardottir, O., Iacono, WG., Lambalk, CB., Montgomery, GW., McGue, M., Ong, KK., Perry, JR. B., Martin, NG., Stefánsson, H., Stefánsson, K. & Boomsma, DI., May 2016, In: American Journal of Human Genetics. 98, 5, p. 898-908

    Research output: Contribution to journalArticlepeer-review

  43. A Method to Exploit the Structure of Genetic Ancestry Space to Enhance Case-Control Studies

    Bodea, C. A., Neale, B. M., Ripke, S., International IBD Genetics Consortium, Daly, M. J., Devlin, B. & Roeder, K., 14 Apr 2016, (E-pub ahead of print) In: American Journal of Human Genetics.

    Research output: Contribution to journalArticlepeer-review

  44. Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy

    Diggle, CP., Sukoff Rizzo, SJ., Popiolek, M., Hinttala, R., Schülke, J-P., Kurian, MA., Carr, IM., Markham, AF., Bonthron, DT., Watson, C., Sharif, SM., Reinhart, V., James, LC., Vanase-Frawley, MA., Charych, E., Allen, M., Harms, J., Schmidt, CJ., Ng, J., Pysden, K. & 22 others, Strick, C., Vieira, P., Mankinen, K., Kokkonen, H., Kallioinen, M., Sormunen, R., Rinne, JO., Johansson, J., Alakurtti, K., Huilaja, L., Hurskainen, T., Tasanen, K., Anttila, E., Marques, TR., Howes, O., Politis, M., Fahiminiya, S., Nguyen, KQ., Majewski, J., Uusimaa, J., Sheridan, E. & Brandon, NJ., 7 Apr 2016, In: American Journal of Human Genetics. 98, 4, p. 735-743 9 p.

    Research output: Contribution to journalArticlepeer-review

  45. Autosomal-Recessive Hearing Impairment due to Rare Missense Variants within S1PR2

    Santos-Cortez, R. L. P., Faridi, R., Rehman, A. U., Lee, K., Ansar, M., Wang, X., Morell, R. J., Isaacson, R., Belyantseva, I. A., Dai, H., Acharya, A., Qaiser, T. A., Muhammad, D., Ali, R. A., Shams, S., Hassan, M. J., Shahzad, S., Raza, S. I., Bashir, Z-E-H., Smith, J. D. & 7 others, Nickerson, D. A., Bamshad, M. J., Riazuddin, S., Ahmad, W., Friedman, T. B., Leal, S. M. & University of Washington Center for Mendelian Genomics, 21 Jan 2016, (E-pub ahead of print) In: American Journal of Human Genetics. 98, 2, p. 331-338 7 p.

    Research output: Contribution to journalArticlepeer-review

  46. Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome

    Meester, J. A. N., Southgate, L., Stittrich, A-B., Venselaar, H., Beekmans, S. J. A., den Hollander, N., Bijlsma, E. K., Helderman-van den Enden, A., Verheij, J. B. G. M., Glusman, G., Roach, J. C., Lehman, A., Patel, M. S., de Vries, B. B. A., Ruivenkamp, C., Itin, P., Prescott, K., Clarke, S., Trembath, R., Zenker, M. & 4 others, Sukalo, M., Van Laer, L., Loeys, B. & Wuyts, W., 3 Sep 2015, In: American Journal of Human Genetics. 97, 3, p. 475-82 8 p.

    Research output: Contribution to journalArticlepeer-review

  47. Accurate and Fast Multiple-Testing Correction in eQTL Studies

    Sul, J. H., Raj, T., de Jong, S., de Bakker, P. I. W., Raychaudhuri, S., Ophoff, R. A., Stranger, B. E., Eskin, E. & Han, B., 28 May 2015, In: American Journal of Human Genetics. p. 857-868 12 p.

    Research output: Contribution to journalArticlepeer-review

  48. Lupus risk variant increases pSTAT1 binding and decreases ETS1 expression

    Lu, X., Zoller, E. E., Weirauch, M. T., Wu, Z., Namjou, B., Williams, A. H., Ziegler, J. T., Comeau, M. E., Marion, M. C., Glenn, S. B., Adler, A., Shen, N., Nath, S. K., Stevens, A. M., Freedman, B. I., Tsao, B. P., Jacob, C. O., Kamen, D. L., Brown, E. E., Gilkeson, G. S. & 26 others, Alarcón, G. S., Reveille, J. D., Anaya, J. M., James, J. A., Sivils, K. L., Criswell, L. A., Vilá, L. M., Alarcón-Riquelme, M. E., Petri, M., Scofield, R. H., Kimberly, R. P., Ramsey-Goldman, R., Joo, Y. B., Choi, J., Bae, S. C., Boackle, S. A., Graham, D. C., Vyse, T. J., Guthridge, J. M., Gaffney, P. M., Langefeld, C. D., Kelly, J. A., Greis, K. D., Kaufman, K. M., Harley, J. B. & Kottyan, L. C., 7 May 2015, In: American Journal of Human Genetics. 96, 5, p. 731-739 9 p.

    Research output: Contribution to journalArticlepeer-review

  49. Joint analysis of psychiatric disorders increases accuracy of risk prediction for schizophrenia, bipolar disorder, and major depressive disorder

    Maier, R., Moser, G., Chen, G-B., Ripke, S., Coryell, W., Potash, J. B., Scheftner, W. A., Shi, J., Weissman, M. M., Hultman, C. M., Landén, M., Levinson, D. F., Kendler, K. S., Smoller, J. W., Wray, N. R., Lee, S. H., Cross-Disorder Working Group of the Psychiatric Genomics Consortium, Kuntsi, J., McGuffin, P., Lewis, C. & 6 others, Farmer, A., Craig, I., Breen, G., Asherson, P., Young, A. & Sonuga-Barke, E., 5 Feb 2015, In: American Journal of Human Genetics. 96, 2, p. 283-94 12 p.

    Research output: Contribution to journalArticlepeer-review

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