Hussman Institute for Human Genomics

Search results

  • Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia

    Calakos, N., Patel, V. D., Gottron, M., Wang, G., Tran-Viet, K. N., Brewington, D., Beyer, J. L., Steffens, D. C., Krishnan, R. R. & Züchner, S., Sep 2010, In: Journal of medical genetics. 47, 9, p. 646-650 5 p.

    Research output: Contribution to journalArticlepeer-review

    58 Scopus citations
  • Functional genomics identifies type i interferon pathway as central for host defense against Candida albicans

    Smeekens, S. P., Ng, A., Kumar, V., Johnson, M. D., Plantinga, T. S., Van Diemen, C., Arts, P., Verwiel, E. T. P., Gresnigt, M. S., Fransen, K., Van Sommeren, S., Oosting, M., Cheng, S. C., Joosten, L. A. B., Hoischen, A., Kullberg, B. J., Scott, W. K., Perfect, J. R., Van Der Meer, J. W. M., Wijmenga, C. & 2 others, Netea, M. G. & Xavier, R. J., 2013, In: Nature communications. 4, 1342.

    Research output: Contribution to journalArticlepeer-review

    111 Scopus citations
  • Functional Network Profiles in ARSACS Disclosed by Aptamer-Based Proteomic Technology

    Morani, F., Doccini, S., Chiorino, G., Fattori, F., Galatolo, D., Sciarrillo, E., Gemignani, F., Züchner, S., Bertini, E. S. & Santorelli, F. M., Jan 27 2021, In: Frontiers in Neurology. 11, 603774.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    3 Scopus citations
  • Functional variants in the LRRK2 gene confer shared effects on risk for Crohn's disease and Parkinson's disease

    Hui, K. Y., Fernandez-Hernandez, H., Hu, J., Schaffner, A., Pankratz, N., Hsu, N. Y., Chuang, L. S., Carmi, S., Villaverde, N., Li, X., Rivas, M., Levine, A. P., Bao, X., Labrias, P. R., Haritunians, T., Ruane, D., Gettler, K., Chen, E., Li, D., Schiff, E. R. & 31 others, Pontikos, N., Barzilai, N., Brant, S. R., Bressman, S., Cheifetz, A. S., Clark, L. N., Daly, M. J., Desnick, R. J., Duerr, R. H., Katz, S., Lencz, T., Myers, R. H., Ostrer, H., Ozelius, L., Payami, H., Peter, Y., Rioux, J. D., Segal, A. W., Scott, W. K., Silverberg, M. S., Vance, J. M., Ubarretxena-Belandia, I., Foroud, T., Atzmon, G., Pe'er, I., Ioannou, Y., McGovern, D. P. B., Yue, Z., Schadt, E. E., Cho, J. H. & Peter, I., Jan 10 2018, In: Science Translational Medicine. 10, 423, eaai7795.

    Research output: Contribution to journalArticlepeer-review

    137 Scopus citations
  • Further evidence suggesting a role for variation in ARHGAP29 variants in nonsyndromic cleft lip/palate

    Letra, A., Maili, L., Mulliken, J. B., Buchanan, E., Blanton, S. H. & Hecht, J. T., Sep 2014, In: Birth Defects Research Part A - Clinical and Molecular Teratology. 100, 9, p. 679-685 7 p.

    Research output: Contribution to journalArticlepeer-review

    14 Scopus citations
  • Further evidence that DDHD2 gene mutations cause autosomal recessive hereditary spastic paraplegia with thin corpus callosum

    Magariello, A., Citrigno, L., Zuchner, S., Gonzalez, M., Patitucci, A., Sofia, V., Conforti, F. L., Pappalardo, I., Mazzei, R., Ungaro, C., Zappia, M. & Muglia, M., Mar 2014, In: European Journal of Neurology. 21, 3, p. e25-e26

    Research output: Contribution to journalLetterpeer-review

    9 Scopus citations
  • Further exclusion of FSHD1B from the telomeric region of 10q

    Speer, M. C., Pericak-Vance, M. A., Stajich, J. M., Sarrica, J., Jordan, M., Roses, A. D., Vance, J. M. & Gilbert, J. R., 1997, In: Neurogenetics. 1, 2, p. 151-152 2 p.

    Research output: Contribution to journalArticlepeer-review

    2 Scopus citations
  • Gabapentin Relieves Vertigo of Periodic Vestibulocerebellar Ataxia: 3 Cases and Possible Mechanism

    Coin, J. T. & Vance, J. M., May 2021, In: Movement Disorders. 36, 5, p. 1264-1267 4 p.

    Research output: Contribution to journalArticlepeer-review

    2 Scopus citations
  • GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia

    Eidhof, I., Baets, J., Kamsteeg, E. J., Deconinck, T., Van Ninhuijs, L., Martin, J. J., Schüle, R., Züchner, S., De Jonghe, P., Schenck, A. & Van De Warrenburg, B. P., Sep 1 2018, In: Brain. 141, 9, p. 2592-2604 13 p.

    Research output: Contribution to journalArticlepeer-review

    8 Scopus citations
  • Gene-environment interactions in Parkinson's disease and other forms of parkinsonism

    Vance, J. M., Ali, S., Bradley, W. G., Singer, C. & Di Monte, D. A., Sep 2010, In: Neurotoxicology. 31, 5, p. 598-602 5 p.

    Research output: Contribution to journalArticlepeer-review

    56 Scopus citations
  • Gene-Environment Interactions in Progressive Supranuclear Palsy

    ENGENE-PSP, Apr 9 2021, In: Frontiers in Neurology. 12, 664796.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Gene expression profiles in Parkinson disease prefrontal cortex implicate FOXO1 and genes under its transcriptional regulation

    Dumitriu, A., Latourelle, J. C., Hadzi, T. C., Pankratz, N., Garza, D., Miller, J. P., Vance, J. M., Foroud, T., Beach, T. G. & Myers, R. H., Jun 2012, In: PLoS genetics. 8, 6, e1002794.

    Research output: Contribution to journalArticlepeer-review

    52 Scopus citations
  • Gene-Gene interaction between FGF20 and MAOB in parkinson disease

    Gao, X., Scott, W. K., Wang, G., Mayhew, G., Li, Y. J., Vance, J. M. & Martin, E. R., Mar 2008, In: Annals of Human Genetics. 72, 2, p. 157-162 6 p.

    Research output: Contribution to journalArticlepeer-review

    21 Scopus citations
  • Gene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders

    Autism Genome Project, Oct 2011, In: European Journal of Human Genetics. 19, 10, p. 1082-1089 8 p.

    Research output: Contribution to journalArticlepeer-review

    31 Scopus citations
  • Generating linkage disequilibrium patterns in data simulations using genomeSIMLA

    Edwards, T. L., Bush, W. S., Turner, S. D., Dudek, S. M., Torstenson, E. S., Schmidt, M., Martin, E. & Ritchie, M. D., 2008, Evolutionary Computation, Machine Learning and Data Mining in Bioinformatics - 6th European Conference, EvoBIO 2008, Proceedings. p. 24-35 12 p. (Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics); vol. 4973 LNCS).

    Research output: Chapter in Book/Report/Conference proceedingConference contribution

    41 Scopus citations
  • Generation and genetic correction of ush2a c.2299delg mutation in patient-derived induced pluripotent stem cells

    Liu, X., Lillywhite, J., Zhu, W., Huang, Z., Clark, A. M., Gosstola, N., Maguire, C. T., Dykxhoorn, D., Chen, Z. Y. & Yang, J., Jun 2021, In: Genes. 12, 6, 805.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    1 Scopus citations
  • Generation of disease-specific autopsy-confirmed iPSCs lines from postmortem isolated Peripheral Blood Mononuclear Cells

    Belle, K., Shabazz, F. S., Nuytemans, K., Davis, D. A., Ali, A., Young, J. L., Scott, W. K., Mash, D. C., Vance, J. M. & Dykxhoorn, D. M., Jan 10 2017, In: Neuroscience Letters. 637, p. 201-206 6 p.

    Research output: Contribution to journalArticlepeer-review

    3 Scopus citations
  • Generation of hiPSC line UMi030-A from an individual with the hearing loss-related GJB2 mutation c.109G > A

    Colbert, B. M., Gosstola, N. C., Dykxhoorn, D. M. & Zhong Liu, X., Jan 2022, In: Stem Cell Research. 58, 102599.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Genetically elevated high-density lipoprotein cholesterol through the cholesteryl ester transfer protein gene does not associate with risk of Alzheimer's disease

    ARUK Consortium, GERAD/PERADES, CHARGE, ADGC, EADI, International Genomics of Alzheimer's Project (IGAP), ARUK Consortium & GERAD/PERADES, CHARGE, ADGC, EADI, Jan 1 2018, In: Alzheimer's and Dementia: Diagnosis, Assessment and Disease Monitoring. 10, p. 595-598 4 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Genetically meaningful phenotypic subgroups in autism spectrum disorders

    Veatch, O. J., Veenstra-Vanderweele, J., Potter, M., Pericak-Vance, M. A. & Haines, J. L., Mar 2014, In: Genes, Brain and Behavior. 13, 3, p. 276-285 10 p.

    Research output: Contribution to journalArticlepeer-review

    46 Scopus citations
  • Genetic analysis of biological pathway data through genomic randomization

    Yaspan, B. L., Bush, W. S., Torstenson, E. S., Ma, D., Pericak-Vance, M. A., Ritchie, M. D., Sutcliffe, J. S. & Haines, J. L., May 2011, In: Human genetics. 129, 5, p. 563-571 9 p.

    Research output: Contribution to journalArticlepeer-review

    48 Scopus citations
  • Genetic and clinical characteristics of NEFL-Related Charcot-Marie-Tooth disease

    Horga, A., Laurà, M., Jaunmuktane, Z., Jerath, N. U., Gonzalez, M. A., Polke, J. M., Poh, R., Blake, J. C., Liu, Y. T., Wiethoff, S., Bettencourt, C., Lunn, M. P. T., Manji, H., Hanna, M. G., Houlden, H., Brandner, S., Züchner, S., Shy, M. & Reilly, M. M., Jul 2017, In: Journal of Neurology, Neurosurgery and Psychiatry. 88, 7, p. 575-585 11 p.

    Research output: Contribution to journalArticlepeer-review

    19 Scopus citations
  • Genetic and lifestyle risk factors for MRI-defined brain infarcts in a population-based setting

    Stroke Genetics Network (SiGN), International Stroke Genetics Consortium (ISGC), METASTROKE, Alzheimer’s Disease Genetics Consortium (ADGC) & Neurology Working Group of the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium, Jan 29 2019, In: Neurology. 92, 5, p. E486-E503

    Research output: Contribution to journalArticlepeer-review

    Open Access
    14 Scopus citations
  • Genetic assessment of age-associated Alzheimer disease risk: Development and validation of a polygenic hazard score

    Desikan, R. S., Fan, C. C., Wang, Y., Schork, A. J., Cabral, H. J., Cupples, L. A., Thompson, W. K., Besser, L., Kukull, W. A., Holland, D., Chen, C. H., Brewer, J. B., Karow, D. S., Kauppi, K., Witoelar, A., Karch, C. M., Bonham, L. W., Yokoyama, J. S., Rosen, H. J., Miller, B. L. & 14 others, Dillon, W. P., Wilson, D. M., Hess, C. P., Pericak-Vance, M., Haines, J. L., Farrer, L. A., Mayeux, R., Hardy, J., Goate, A. M., Hyman, B. T., Schellenberg, G. D., McEvoy, L. K., Andreassen, O. A. & Dale, A. M., Mar 2017, In: PLoS Medicine. 14, 3, e1002258.

    Research output: Contribution to journalArticlepeer-review

    170 Scopus citations
  • Genetic association analysis of drusen progression

    Hoffman, J. D., Van Grinsven, M. J. J. P., Li, C., Brantley, M., McGrath, J., Agarwal, A., Scott, W. K., Schwartz, S. G., Kovach, J., Pericak-Vance, M., Sanchez, C. I. & Haines, J. L., Apr 1 2016, In: Investigative Ophthalmology and Visual Science. 57, 4, p. 2225-2231 7 p.

    Research output: Contribution to journalArticlepeer-review

    10 Scopus citations
  • Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci

    Aung, T., Ozaki, M., Lee, M. C., Schlötzer-Schrehardt, U., Thorleifsson, G., Mizoguchi, T., Igo, R. P., Haripriya, A., Williams, S. E., Astakhov, Y. S., Orr, A. C., Burdon, K. P., Nakano, S., Mori, K., Abu-Amero, K., Hauser, M., Li, Z., Prakadeeswari, G., Bailey, J. N. C., Cherecheanu, A. P. & 269 others, Kang, J. H., Nelson, S., Hayashi, K., Manabe, S. I., Kazama, S., Zarnowski, T., Inoue, K., Irkec, M., Coca-Prados, M., Sugiyama, K., Järvelä, I., Schlottmann, P., Lerner, S. F., Lamari, H., Nilgün, Y., Bikbov, M., Park, K. H., Cha, S. C., Yamashiro, K., Zenteno, J. C., Jonas, J. B., Kumar, R. S., Perera, S. A., Chan, A. S. Y., Kobakhidze, N., George, R., Vijaya, L., Do, T., Edward, D. P., De Juan Marcos, L., Pakravan, M., Moghimi, S., Ideta, R., Bach-Holm, D., Kappelgaard, P., Wirostko, B., Thomas, S., Gaston, D., Bedard, K., Greer, W. L., Yang, Z., Chen, X., Huang, L., Sang, J., Jia, H., Jia, L., Qiao, C., Zhang, H., Liu, X., Zhao, B., Wang, Y. X., Xu, L., Leruez, S., Reynier, P., Chichua, G., Tabagari, S., Uebe, S., Zenkel, M., Berner, D., Mossböck, G., Weisschuh, N., Hoja, U., Welge-Luessen, U. C., Mardin, C., Founti, P., Chatzikyriakidou, A., Pappas, T., Anastasopoulos, E., Lambropoulos, A., Ghosh, A., Shetty, R., Porporato, N., Saravanan, V., Venkatesh, R., Shivkumar, C., Kalpana, N., Sarangapani, S., Kanavi, M. R., Beni, A. N., Yazdani, S., Lashay, A., Naderifar, H., Khatibi, N., Fea, A., Lavia, C., Dallorto, L., Rolle, T., Frezzotti, P., Paoli, D., Salvi, E., Manunta, P., Mori, Y., Miyata, K., Higashide, T., Chihara, E., Ishiko, S., Yoshida, A., Yanagi, M., Kiuchi, Y., Ohashi, T., Sakurai, T., Sugimoto, T., Chuman, H., Aihara, M., Inatani, M., Miyake, M., Gotoh, N., Matsuda, F., Yoshimura, N., Ikeda, Y., Ueno, M., Sotozono, C., Jeoung, J. W., Sagong, M., Park, K. H., Ahn, J., Cruz-Aguilar, M., Ezzouhairi, S. M., Rafei, A., Chong, Y. F., Ng, X. Y., Goh, S. R., Chen, Y., Yong, V. H. K., Khan, M. I., Olawoye, O. O., Ashaye, A. O., Ugbede, I., Onakoya, A., Kizor-Akaraiwe, N., Teekhasaenee, C., Suwan, Y., Supakontanasan, W., Okeke, S., Uche, N. J., Asimadu, I., Ayub, H., Akhtar, F., Kosior-Jarecka, E., Lukasik, U., Lischinsky, I., Castro, V., Grossmann, R. P., Megevand, G. S., Roy, S., Dervan, E., Silke, E., Rao, A., Sahay, P., Fornero, P., Cuello, O., Sivori, D., Zompa, T., Mills, R. A., Souzeau, E., Mitchell, P., Wang, J. J., Hewitt, A. W., Coote, M., Crowston, J. G., Astakhov, S. Y., Akopov, E. L., Emelyanov, A., Vysochinskaya, V., Kazakbaeva, G., Fayzrakhmanov, R., Al-Obeidan, S. A., Owaidhah, O., Aljasim, L. A., Chowbay, B., Foo, J. N., Soh, R. Q., Sim, K. S., Xie, Z., Cheong, A. W. O., Mok, S. Q., Soo, H. M., Chen, X. Y., Peh, S. Q., Heng, K. K., Husain, R., Ho, S. L., Hillmer, A. M., Cheng, C. Y., Escudero-Domínguez, F. A., González-Sarmiento, R., Martinon-Torres, F., Salas, A., Pathanapitoon, K., Hansapinyo, L., Wanichwecharugruang, B., Kitnarong, N., Sakuntabhai, A., Nguyn, H. X., Nguyn, G. T. T., Nguyn, T. V., Zenz, W., Binder, A., Klobassa, D. S., Hibberd, M. L., Davila, S., Herms, S., Nöthen, M. M., Moebus, S., Rautenbach, R. M., Ziskind, A., Carmichael, T. R., Ramsay, M., Álvarez, L., García, M., González-Iglesias, H., Rodríguez-Calvo, P. P., Cueto, L. F. V., Oguz, Ç., Tamcelik, N., Atalay, E., Batu, B., Aktas, D., Kaslm, B., Wilson, M. R., Coleman, A. L., Liu, Y., Challa, P., Herndon, L., Kuchtey, R. W., Kuchtey, J., Curtin, K., Chaya, C. J., Crandall, A., Zangwill, L. M., Wong, T. Y., Nakano, M., Kinoshita, S., Den Hollander, A. I., Vesti, E., Fingert, J. H., Lee, R. K., Sit, A. J., Shingleton, B. J., Wang, N., Cusi, D., Qamar, R., Kraft, P., Pericak-Vance, M. A., Raychaudhuri, S., Heegaard, S., Kivelä, T., Reis, A., Kruse, F. E., Weinreb, R. N., Pasquale, L. R., Haines, J. L., Thorsteinsdottir, U., Jonasson, F., Allingham, R. R., Milea, D., Ritch, R., Kubota, T., Tashiro, K., Vithana, E. N., Micheal, S., Topouzis, F., Craig, J. E., Dubina, M., Sundaresan, P., Stefansson, K., Wiggs, J. L., Pasutto, F. & Khor, C. C., Jul 1 2017, In: Nature genetics. 49, 7, p. 993-1004 12 p.

    Research output: Contribution to journalArticlepeer-review

    56 Scopus citations
  • Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands

    Balicza, P., Grosz, Z., Gonzalez, M. A., Bencsik, R., Pentelenyi, K., Gal, A., Varga, E., Klivenyi, P., Koller, J., Züchner, S. & Molnar, J. M., May 15 2016, In: Journal of the Neurological Sciences. 364, p. 116-121 6 p.

    Research output: Contribution to journalArticlepeer-review

    19 Scopus citations
  • Genetic basis of hearing loss in Spanish, Hispanic and Latino populations

    Mittal, R., Patel, A. P., Nguyen, D., Pan, D. R., Jhaveri, V. M., Rudman, J. R., Dharmaraja, A., Yan, D., Feng, Y., Chapagain, P., Lee, D. J., Blanton, S. H. & Liu, X. Z., Mar 20 2018, In: Gene. 647, p. 297-305 9 p.

    Research output: Contribution to journalReview articlepeer-review

    9 Scopus citations
  • Genetic causes of inner ear anomalies: A review from the Turkish study group for inner ear anomalies

    Ocak, E., Duman, D. & Tekin, M., Jul 2019, In: Balkan medical journal. 36, 4, p. 206-211 6 p.

    Research output: Contribution to journalReview articlepeer-review

    Open Access
    3 Scopus citations
  • Genetic causes of nonsyndromic cleft lip with or without cleft palate

    Yuan, Q., Blanton, S. H. & Hecht, J. T., Mar 14 2011, Medical Genetics in the Clinical Practice of ORL. Alford, R. & Sutton, R. (eds.). p. 107-113 7 p. (Advances in Oto-Rhino-Laryngology; vol. 70).

    Research output: Chapter in Book/Report/Conference proceedingChapter

    22 Scopus citations
  • 7 Scopus citations
  • Genetic compensation in a stable slc25a46 mutant zebrafish: A case for using F0 CRISPR mutagenesis to study phenotypes caused by inherited disease

    Buglo, E., Sarmiento, E., Martuscelli, N. B., Sant, D. W., Danzi, M. C., Abrams, A. J., Dallman, J. E. & Züchner, S., 2020, In: PloS one. 15, 3, e0230566.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    11 Scopus citations
  • Genetic correlations between intraocular pressure, blood pressure and primary open-angle glaucoma: A multi-cohort analysis

    Aschard, H., Kang, J. H., Iglesias, A. I., Hysi, P., Cooke Bailey, J. N., Khawaja, A. P., Allingham, R. R., Ashley-Koch, A., Lee, R. K., Moroi, S. E., Brilliant, M. H., Wollstein, G., Schuman, J. S., Fingert, J. H., Budenz, D. L., Realini, T., Gaasterland, T., Scott, W. K., Singh, K., Sit, A. J. & 25 others, Igo, R. P., Song, Y. E., Hark, L., Ritch, R., Rhee, D. J., Gulati, V., Haven, S., Vollrath, D., Zack, D. J., Medeiros, F., Weinreb, R. N., Cheng, C. Y., Chasman, D. I., Christen, W. G., Pericak-Vance, M. A., Liu, Y., Kraft, P., Richards, J. E., Rosner, B. A., Hauser, M. A., Klaver, C. C. W., Vanduijn, C. M., Haines, J., Wiggs, J. L. & Pasquale, L. R., Nov 1 2017, In: European Journal of Human Genetics. 25, 11, p. 1261-1267 7 p.

    Research output: Contribution to journalArticlepeer-review

    7 Scopus citations
  • Genetic counselor roles in the undiagnosed diseases network research study: Clinical care, collaboration, and curation

    Undiagnosed Diseases Network, 2021, (Accepted/In press) In: Journal of Genetic Counseling.

    Research output: Contribution to journalArticlepeer-review

  • Genetic effects in the leukotriene biosynthesis pathway and association with atherosclerosis

    Crosslin, D. R., Shah, S. H., Nelson, S. C., Haynes, C. S., Connelly, J. J., Gadson, S., Goldschmidt-Clermont, P. J., Vance, J. M., Rose, J., Granger, C. B., Seo, D., Gregory, S. G., Kraus, W. E. & Hauser, E. R., 2009, In: Human genetics. 125, 2, p. 217-229 13 p.

    Research output: Contribution to journalArticlepeer-review

    43 Scopus citations
  • Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis

    Naj, A. C., Scott, W. K., Courtenay, M. D., Cade, W. H., Schwartz, S. G., Kovach, J. L., Agarwal, A., Wang, G., Haines, J. L. & Pericak-Vance, M. A., May 2013, In: Annals of Human Genetics. 77, 3, p. 215-231 17 p.

    Research output: Contribution to journalArticlepeer-review

    31 Scopus citations
  • Genetic linkage of serum homocysteine in dominican families: The family study of stroke risk and carotid atherosclerosis

    Della-Morte, D., Beecham, A., Rundek, T., Slifer, S., Boden-Albala, B., McClendon, M. S., Blanton, S. H. & Sacco, R. L., Jul 2010, In: Stroke. 41, 7, p. 1356-1362 7 p.

    Research output: Contribution to journalArticlepeer-review

    8 Scopus citations
  • Genetic loci for blood lipid levels identified by linkage and association analyses in Caribbean Hispanics

    Dong, C., Beecham, A., Wang, L., Slifer, S., Wright, C. B., Blanton, S. H., Rundek, T. & Sacco, R. L., Jul 2011, In: Journal of Lipid Research. 52, 7, p. 1411-1419 9 p.

    Research output: Contribution to journalArticlepeer-review

    20 Scopus citations
  • Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

    Alzheimer Disease Genetics Consortium (ADGC), The European Alzheimer’s Disease Initiative (EADI), Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium (CHARGE), & Genetic and Environmental Risk in AD/Defining Genetic, Polygenic and Environmental Risk for Alzheimer’s Disease Consortium (GERAD/PERADES), Mar 1 2019, In: Nature genetics. 51, 3, p. 414-430 17 p.

    Research output: Contribution to journalArticlepeer-review

    640 Scopus citations
  • Genetic modifiers and non-Mendelian aspects of CMT

    Bis-Brewer, D. M., Fazal, S. & Züchner, S., Jan 1 2020, In: Brain research. 1726, 146459.

    Research output: Contribution to journalReview articlepeer-review

    16 Scopus citations
  • Genetic overlap between Alzheimer's disease and Parkinson's disease at the MAPT locus

    Desikan, R. S., Schork, A. J., Wang, Y., Witoelar, A., Sharma, M., McEvoy, L. K., Holland, D., Brewer, J. B., Chen, C. H., Thompson, W. K., Harold, D., Williams, J., Owen, M. J., O'Donovan, M. C., Pericak-Vance, M. A., Mayeux, R., Haines, J. L., Farrer, L. A., Schellenberg, G. D., Heutink, P. & 25 others, Singleton, A. B., Brice, A., Wood, N. W., Hardy, J., Martinez, M., Choi, S. H., Destefano, A., Ikram, M. A., Bis, J. C., Smith, A., Fitzpatrick, A. L., Launer, L., Van Duijn, C., Seshadri, S., Ulstein, I. D., Aarsland, D., Fladby, T., Djurovic, S., Hyman, B. T., Snaedal, J., Stefansson, H., Stefansson, K., Gasser, T., Andreassen, O. A. & Dale, A. M., Dec 1 2015, In: Molecular psychiatry. 20, 12, p. 1588-1595 8 p.

    Research output: Contribution to journalArticlepeer-review

    87 Scopus citations
  • Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits

    International AMD Genomics Consortium (IAMDGC), Mar 27 2017, In: Genome Medicine. 9, 1, 29.

    Research output: Contribution to journalArticlepeer-review

    37 Scopus citations
  • Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

    Lee, S. H., Ripke, S., Neale, B. M., Faraone, S. V., Purcell, S. M., Perlis, R. H., Mowry, B. J., Thapar, A., Goddard, M. E., Witte, J. S., Absher, D., Agartz, I., Akil, H., Amin, F., Andreassen, O. A., Anjorin, A., Anney, R., Anttila, V., Arking, D. E., Asherson, P. & 350 others, Azevedo, M. H., Backlund, L., Badner, J. A., Bailey, A. J., Banaschewski, T., Barchas, J. D., Barnes, M. R., Barrett, T. B., Bass, N., Battaglia, A., Bauer, M., Bayés, M., Bellivier, F., Bergen, S. E., Berrettini, W., Betancur, C., Bettecken, T., Biederman, J., Binder, E. B., Black, D. W., Blackwood, D. H. R., Bloss, C. S., Boehnke, M., Boomsma, D. I., Breen, G., Breuer, R., Bruggeman, R., Cormican, P., Buccola, N. G., Buitelaar, J. K., Bunney, W. E., Buxbaum, J. D., Byerley, W. F., Byrne, E. M., Caesar, S., Cahn, W., Cantor, R. M., Casas, M., Chakravarti, A., Chambert, K., Choudhury, K., Cichon, S., Cloninger, C. R., Collier, D. A., Cook, E. H., Coon, H., Cormand, B., Corvin, A., Coryell, W. 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  • Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

    Sawcer, S., Hellenthal, G., Pirinen, M., Spencer, C. C. A., Patsopoulos, N. A., Moutsianas, L., Dilthey, A., Su, Z., Freeman, C., Hunt, S. E., Edkins, S., Gray, E., Booth, D. R., Potter, S. C., Goris, A., Band, G., Oturai, A. B., Strange, A., Saarela, J., Bellenguez, C. & 222 others, Fontaine, B., Gillman, M., Hemmer, B., Gwilliam, R., Zipp, F., Jayakumar, A., Martin, R., Leslie, S., Hawkins, S., Giannoulatou, E., D'Alfonso, S., Blackburn, H., Boneschi, F. M., Liddle, J., Harbo, H. F., Perez, M. L., Spurkland, A., Waller, M. J., Mycko, M. P., Ricketts, M., Comabella, M., Hammond, N., Kockum, I., McCann, O. T., Ban, M., Whittaker, P., Kemppinen, A., Weston, P., Hawkins, C., Widaa, S., Zajicek, J., Dronov, S., Robertson, N., Bumpstead, S. J., Barcellos, L. F., Ravindrarajah, R., Abraham, R., Alfredsson, L., Ardlie, K., Aubin, C., Baker, A., Baker, K., Baranzini, S. E., Bergamaschi, L., Bergamaschi, R., Bernstein, A., Berthele, A., Boggild, M., Bradfield, J. P., Brassat, D., Broadley, S. A., Buck, D., Butzkueven, H., Capra, R., Carroll, W. M., Cavalla, P., Celius, E. G., Cepok, S., Chiavacci, R., Clerget-Darpoux, F., Clysters, K., Comi, G., Cossburn, M., Cournu-Rebeix, I., Cox, M. B., Cozen, W., Cree, B. A. C., Cross, A. H., Cusi, D., Daly, M. J., Davis, E., De Bakker, P. I. W., Debouverie, M., D'Hooghe, M. B., Dixon, K., Dobosi, R., Dubois, B., Ellinghaus, D., Elovaara, I., Esposito, F., Fontenille, C., Foote, S., Franke, A., Galimberti, D., Ghezzi, A., Glessner, J., Gomez, R., Gout, O., Graham, C., Grant, S. F. A., Guerini, F. R., Hakonarson, H., Hall, P., Hamsten, A., Hartung, H. P., Heard, R. N., Heath, S., Hobart, J., Hoshi, M., Infante-Duarte, C., Ingram, G., Ingram, W., Islam, T., Jagodic, M., Kabesch, M., Kermode, A. G., Kilpatrick, T. J., Kim, C., Klopp, N., Koivisto, K., Larsson, M., Lathrop, M., Lechner-Scott, J. S., Leone, M. A., Leppä, V., Liljedahl, U., Bomfim, I. L., Lincoln, R. R., Link, J., Liu, J., Lorentzen, A. R., Lupoli, S., MacCiardi, F., MacK, T., Marriott, M., Martinelli, V., Mason, D., McCauley, J. L., Mentch, F., Mero, I. L., Mihalova, T., Montalban, X., Mottershead, J., Myhr, K. M., Naldi, P., Ollier, W., Page, A., Palotie, A., Pelletier, J., Piccio, L., Pickersgill, T., Piehl, F., Pobywajlo, S., Quach, H. L., Ramsay, P. P., Reunanen, M., Reynolds, R., Rioux, J. D., Rodegher, M., Roesner, S., Rubio, J. P., Rückert, I. M., Salvetti, M., Salvi, E., Santaniello, A., Schaefer, C. A., Schreiber, S., Schulze, C., Scott, R. J., Sellebjerg, F., Selmaj, K. W., Sexton, D., Shen, L., Simms-Acuna, B., Skidmore, S., Sleiman, P. M. A., Smestad, C., Sørensen, P. S., Søndergaard, H. B., Stankovich, J., Strange, R. C., Sulonen, A. M., Sundqvist, E., Syvänen, A. C., Taddeo, F., Taylor, B., Blackwell, J. M., Tienari, P., Bramon, E., Tourbah, A., Brown, M. A., Tronczynska, E., Casas, J. P., Tubridy, N., Corvin, A., Vickery, J., Jankowski, J., Villoslada, P., Markus, H. S., Wang, K., Mathew, C. G., Wason, J., Palmer, C. N. A., Wichmann, E., Plomin, R., Willoughby, E., Rautanen, A., Winkelmann, J., Wittig, M., Trembath, R. C., Yaouanq, J., Viswanathan, A. C., Zhang, H., Wood, N. W., Zuvich, R., Deloukas, P., Langford, C., Duncanson, A., Oksenberg, J. R., Pericak-Vance, M. A., Haines, J. L., Olsson, T., Hillert, J., Ivinson, A. J., De Jager, P. L., Peltonen, L., Stewart, G. J., Hafler, D. A., Hauser, S. L., McVean, G., Donnelly, P. & Compston, A., Aug 11 2011, In: Nature. 476, 7359, p. 214-219 6 p.

    Research output: Contribution to journalLetterpeer-review

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  • Genetic risk factors for parkinson’s disease

    Oliveira, S. A. & Vance, J. M., Jan 1 2007, Parkinson's Disease: Genetics and Pathogenesis. CRC Press, p. 153-166 14 p.

    Research output: Chapter in Book/Report/Conference proceedingChapter

  • Genetics and pathogenesis of multiple sclerosis

    Zuvich, R. L., McCauley, J. L., Pericak-Vance, M. A. & Haines, J. L., Dec 2009, In: Seminars in Immunology. 21, 6, p. 328-333 6 p.

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  • Genetics and the Individualized Therapy of Vestibular Disorders

    Mei, C., Dong, H., Nisenbaum, E., Thielhelm, T., Nourbakhsh, A., Yan, D., Smeal, M., Lundberg, Y., Hoffer, M. E., Angeli, S., Telischi, F., Nie, G., Blanton, S. H. & Liu, X., Feb 5 2021, In: Frontiers in Neurology. 12, 633207.

    Research output: Contribution to journalReview articlepeer-review

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  • Genetic screening as an adjunct to universal newborn hearing screening: literature review and implications for non-congenital pre-lingual hearing loss

    D’Aguillo, C., Bressler, S., Yan, D., Mittal, R., Fifer, R., Blanton, S. H. & Liu, X., Dec 2 2019, In: International Journal of Audiology. 58, 12, p. 834-850 17 p.

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    4 Scopus citations
  • Genetics in Diagnosing and Managing Inflammatory Bowel Disease

    McCauley, J. L. & Abreu, M. T., Jun 2012, In: Gastroenterology Clinics of North America. 41, 2, p. 513-522 10 p.

    Research output: Contribution to journalReview articlepeer-review

    10 Scopus citations
  • Genetics of alzheimer disease

    Naj, A. C., Carney, R. M., Hahn, S. E., Slifer, M. A., Haines, J. L. & Pericak-Vance, M. A., Aug 29 2013, Emery and Rimoin's Principles and Practice of Medical Genetics. Elsevier Ltd, p. 1-20 20 p.

    Research output: Chapter in Book/Report/Conference proceedingChapter