Hussman Institute for Human Genomics

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2017

Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project

on behalf of the Mito Working Group Member Participants, May 1 2017, In : Journal of Inherited Metabolic Disease. 40, 3, p. 403-414 12 p.

Research output: Contribution to journalArticle

5 Scopus citations

Coronary collateralization shows sex and racial-ethnic differences in obstructive artery disease patients

Liu, Z., Pericak-Vance, M. A., Goldschmidt-Clermont, P., Seo, D. M., Wang, L., Rundek, T. & Beecham, G. W., Oct 1 2017, In : PLoS One. 12, 10, e0183836.

Research output: Contribution to journalArticle

6 Scopus citations

Cryptic amyloidogenic elements in mutant NEFH causing Charcot-Marie-Tooth 2 trigger aggresome formation and neuronal death

Jacquier, A., Delorme, C., Belotti, E., Juntas-Morales, R., Solé, G., Dubourg, O., Giroux, M., Maurage, C. A., Castellani, V., Rebelo, A., Abrams, A., Zuchner, S. L., Stojkovic, T., Schaeffer, L. & Latour, P., Jul 14 2017, In : Acta neuropathologica communications. 5, 1, 1 p.

Research output: Contribution to journalArticle

9 Scopus citations

Data characterizing the ZMIZ1 molecular phenotype of multiple sclerosis

Fewings, N., Gatt, P. N., McKay, F. C., Parnell, G. P., Schibeci, S. D., Edwards, J., Basuki, M. A., Goldinger, A., Fabis-Pedrini, M. J., Kermode, A. G., Manrique, C. P., McCauley, J. L., Nickles, D., Baranzini, S. E., Burke, T., Vucic, S., Stewart, G. J. & Booth, D. R., Apr 1 2017, In : Data in Brief. 11, p. 364-370 7 p.

Research output: Contribution to journalArticle

1 Scopus citations

Doublet-Mediated DNA Rearrangement—A Novel and Potentially Underestimated Mechanism for the Formation of Recurrent Pathogenic Deletions

Jahic, A., Hinreiner, S., Emberger, W., Hehr, U., Zuchner, S. L. & Beetz, C., Mar 1 2017, In : Human Mutation. 38, 3, p. 275-278 4 p.

Research output: Contribution to journalArticle

Early-onset Alzheimer disease and candidate risk genes involved in endolysosomal transport

Kunkle, B. W., Vardarajan, B. N., Naj, A. C., Whitehead, P. L., Rolati, S., Slifer, S., Carney, R. M., Cuccaro, M., Vance, J. M., Gilbert, J., Wang, L. S., Farrer, L. A., Reitz, C., Haines, J. L., Beecham, G. W., Martin, E. R., Schellenberg, G. D., Mayeux, R. P. & Pericak-Vance, M. A., Sep 1 2017, In : JAMA Neurology. 74, 9, p. 1113-1122 10 p.

Research output: Contribution to journalArticle

8 Scopus citations

Evaluating genetic susceptibility to Staphylococcus aureus bacteremia in African Americans using admixture mapping

Cyr, D. D., Allen, A. S., Du, G. J., Ruffin, F., Adams, C., Thaden, J. T., Maskarinec, S. A., Souli, M., Guo, S., Dykxhoorn, D. M., Scott, W. K. & Fowler, V. G., Mar 23 2017, (Accepted/In press) In : Genes and Immunity.

Research output: Contribution to journalArticle

9 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., 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 journalArticle

1 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., Zuchner, S. L., Shy, M. & Reilly, M. M., Jul 1 2017, In : Journal of Neurology, Neurosurgery and Psychiatry. 88, 7, p. 575-585 11 p.

Research output: Contribution to journalArticle

10 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. A., 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 1 2017, In : PLoS Medicine. 14, 3, e1002258.

Research output: Contribution to journalArticle

88 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 journalArticle

32 Scopus citations
2 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 journalArticle

4 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 journalArticle

25 Scopus citations

Genome-wide association study identifies four novel loci associated with Alzheimer’s endophenotypes and disease modifiers

Alzheimer’s Disease Neuroimaging Initiative (ADNI) & The Alzheimer Disease Genetic Consortium (ADGC), May 1 2017, In : Acta Neuropathologica. 133, 5, p. 839-856 18 p.

Research output: Contribution to journalArticle

35 Scopus citations

Genome-wide association study of male sexual orientation

Sanders, A. R., Beecham, G. W., Guo, S., Dawood, K., Rieger, G., Badner, J. A., Gershon, E. S., Krishnappa, R. S., Kolundzija, A. B., Duan, J., Shi, J., Levinson, D. F., Mowry, B. J., Olincy, A., Amin, F., Cloninger, C. R., Svrakic, D. M., Silverman, J. M., Buccola, N. G., Byerley, W. F. & 5 others, Black, D. W., Freedman, R., Gejman, P. V., Bailey, J. M. & Martin, E. R., Dec 1 2017, In : Scientific Reports. 7, 1, 16950.

Research output: Contribution to journalArticle

13 Scopus citations

Genome-wide scan in Hispanics highlights candidate loci for brain white matter hyperintensities

Beecham, A., Dong, C., Wright, C. B., Dueker, N., Brickman, A. M., Wang, L., DeCarli, C., Blanton, S. H., Rundek, T., Mayeux, R. & Sacco, R. L., Oct 1 2017, In : Neurology: Genetics. 3, 5, e185.

Research output: Contribution to journalArticle

1 Scopus citations

Hereditary spastic paraplegia type 5: Natural history, biomarkers and a randomized controlled trial

Schöls, L., Rattay, T. W., Martus, P., Meisner, C., Baets, J., Fischer, I., Jägle, C., Fraidakis, M. J., Martinuzzi, A., Saute, J. A., Scarlato, M., Antenora, A., Stendel, C., Höflinger, P., Lourenco, C. M., Abreu, L., Smets, K., Paucar, M., Deconinck, T., Bis, D. M. & 14 others, Wiethoff, S., Bauer, P., Arnoldi, A., Marques, W., Jardim, L. B., Hauser, S., Criscuolo, C., Filla, A., Zuchner, S. L., Bassi, M. T., Klopstock, T., De Jonghe, P., Björkhem, I. & Schüle, R., Dec 1 2017, In : Brain. 140, 12, p. 3112-3127 16 p.

Research output: Contribution to journalArticle

27 Scopus citations

Human Epicardial Fat Expresses Glucagon-Like Peptide 1 and 2 Receptors Genes

Iacobellis, G., Camarena, V., Sant, D. W. & Wang, G., Apr 19 2017, (Accepted/In press) In : Hormone and Metabolic Research.

Research output: Contribution to journalArticle

7 Scopus citations

Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia

Minnerop, M., Kurzwelly, D., Wagner, H., Soehn, A. S., Reichbauer, J., Tao, F., Rattay, T. W., Peitz, M., Rehbach, K., Giorgetti, A., Pyle, A., Thiele, H., Altmüller, J., Timmann, D., Karaca, I., Lennarz, M., Baets, J., Hengel, H., Synofzik, M., Atasu, B. & 36 others, Feely, S., Kennerson, M., Stendel, C., Lindig, T., Gonzalez, M. A., Stirnberg, R., Sturm, M., Roeske, S., Jung, J., Bauer, P., Lohmann, E., Herms, S., Heilmann-Heimbach, S., Nicholson, G., Mahanjah, M., Sharkia, R., Carloni, P., Brüstle, O., Klopstock, T., Mathews, K. D., Shy, M. E., De Jonghe, P., Chinnery, P. F., Horvath, R., Kohlhase, J., Schmitt, I., Wolf, M., Greschus, S., Amunts, K., Maier, W., Schöls, L., Nürnberg, P., Zuchner, S. L., Klockgether, T., Ramirez, A. & Schüle, R., 2017, In : Brain. 140, 6, p. 1561-1578 18 p.

Research output: Contribution to journalArticle

18 Scopus citations

Identification of rare noncoding sequence variants in gamma-aminobutyric acid A receptor, alpha 4 subunit in autism spectrum disorder

Griswold, A., van Booven, D., Cuccaro, M., Haines, J. L., Gilbert, J. & Pericak-Vance, M. A., Nov 18 2017, (Accepted/In press) In : Neurogenetics. p. 1-10 10 p.

Research output: Contribution to journalArticle

1 Scopus citations

Immunosuppression as a possible risk factor for interferon nonresponse in ocular surface squamous neoplasia

Ashkenazy, N., Karp, C., Wang, G., Acosta, C. M. & Galor, A., Apr 1 2017, In : Cornea. 36, 4, p. 506-510 5 p.

Research output: Contribution to journalArticle

6 Scopus citations

Inflammatory bowel disease is presenting sooner after immigration in more recent US immigrants from Cuba

Damas, O. M., Avalos, D. J., Palacio, A. M., Gomez, L., Quintero, M. A., Deshpande, A. R., Sussman, D. A., McCauley, J. L., Lopez, J., Schwartz, S. J. & Abreu, M. T., Aug 1 2017, In : Alimentary Pharmacology and Therapeutics. 46, 3, p. 303-309 7 p.

Research output: Contribution to journalArticle

9 Scopus citations

Investigating multiple sclerosis genetic susceptibility on the founder population of east-central Sardinia via association and linkage analysis of immune-related loci

Fazia, T., Pastorino, R., Foco, L., Han, L., Abney, M., Beecham, A., Hadjixenofontos, A., Guo, H., Gentilini, D., Papachristou, C., Bitti, P. P., Ticca, A., Berzuini, C., McCauley, J. L. & Bernardinelli, L., Sep 1 2017, (Accepted/In press) In : Multiple Sclerosis Journal.

Research output: Contribution to journalArticle

Joint Analysis of Nuclear and Mitochondrial Variants in Age-Related Macular Degeneration Identifies Novel Loci TRPM1 and ABHD2/RLBP1

for the International Age-Related Macular Degeneration Genomics Consortium (IAMDGC), Aug 1 2017, In : Investigative ophthalmology & visual science. 58, 10, p. 4027-4038 12 p.

Research output: Contribution to journalArticle

5 Scopus citations

KBG syndrome: An Australian experience

Murray, N., Burgess, B., Hay, R., Colley, A., Rajagopalan, S., McGaughran, J., Patel, C., Enriquez, A., Goodwin, L., Stark, Z., Tan, T., Wilson, M., Roscioli, T., Tekin, M. & Goel, H., Jul 1 2017, In : American Journal of Medical Genetics, Part A. 173, 7, p. 1866-1877 12 p.

Research output: Contribution to journalArticle

7 Scopus citations

Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78)

Estrada-Cuzcano, A., Martin, S., Chamova, T., Synofzik, M., Timmann, D., Holemans, T., Andreeva, A., Reichbauer, J., De Rycke, R., Chang, D. I., Van Veen, S., Samuel, J., Schöls, L., Pöppel, T., Sørensen, D. M., Asselbergh, B., Klein, C., Zuchner, S. L., Jordanova, A., Vangheluwe, P. & 2 others, Tournev, I. & Schüle, R., 2017, In : Brain. 140, 2, p. 287-305 19 p.

Research output: Contribution to journalArticle

42 Scopus citations

Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia

Anney, R. J. L., Ripke, S., Anttila, V., Grove, J., Holmans, P., Huang, H., Klei, L., Lee, P. H., Medland, S. E., Neale, B., Robinson, E., Weiss, L. A., Zwaigenbaum, L., Yu, T. W., Wittemeyer, K., Willsey, A. J., Wijsman, E. M., Werge, T., Wassink, T. H., Waltes, R. & 143 others, Walsh, C. A., Wallace, S., Vorstman, J. A. S., Vieland, V. J., Vicente, A. M., Vanengeland, H., Tsang, K., Thompson, A. P., Szatmari, P., Svantesson, O., Steinberg, S., Stefansson, K., Stefansson, H., State, M. W., Soorya, L., Silagadze, T., Scherer, S. W., Schellenberg, G. D., Sandin, S., Sanders, S. J., Saemundsen, E., Rouleau, G. A., Rogé, B., Roeder, K., Roberts, W., Reichert, J., Reichenberg, A., Rehnström, K., Regan, R., Poustka, F., Poultney, C. S., Piven, J., Pinto, D., Pericak-Vance, M. A., Pejovic-Milovancevic, M., Pedersen, M. G., Pedersen, C. B., Paterson, A. D., Parr, J. R., Pagnamenta, A. T., Oliveira, G., Nurnberger, J. I., Nordentoft, M., Murtha, M. T., Mouga, S., Mortensen, P. B., Mors, O., Morrow, E. M., Moreno-De-Luca, D., Monaco, A. P., Minshew, N., Merikangas, A., McMahon, W. M., McGrew, S. G., Mattheisen, M., Martsenkovsky, I., Martin, D. M., Mane, S. M., Magnusson, P., Magalhaes, T., Maestrini, E., Lowe, J. K., Lord, C., Levitt, P., Martin, C. L., Ledbetter, D. H., Leboyer, M., Lecouteur, A. S., Ladd-Acosta, C., Kolevzon, A., Klauck, S. M., Jacob, S., Iliadou, B., Hultman, C. M., Hougaard, D. M., Hertz-Picciotto, I., Hendren, R., Hansen, C. S., Haines, J. L., Guter, S. J., Grice, D. E., Green, J. M., Green, A., Goldberg, A. P., Gillberg, C., Gilbert, J., Gallagher, L., Freitag, C. M., Fombonne, E., Folstein, S. E., Fernandez, B., Fallin, M. D., Ercan-Sencicek, A. G., Ennis, S., Duque, F., Duketis, E., Delorme, R., Derubeis, S., Dejonge, M. V., Dawson, G., Cuccaro, M., Correia, C. T., Conroy, J., Conceição, I. C., Chiocchetti, A. G., Celestino-Soper, P. B. S., Casey, J., Cantor, R. M., Café, C., Bybjerg-Grauholm, J., Brennan, S., Bourgeron, T., Bolton, P. F., Bölte, S., Bolshakova, N., Betancur, C., Bernier, R., Beaudet, A. L., Battaglia, A., Bal, V. H., Baird, G., Bailey, A. J., Bækvad-Hansen, M., Bader, J. S., Bacchelli, E., Anagnostou, E., Amaral, D., Almeida, J., Børglum, A. D., Buxbaum, J. D., Chakravarti, A., Cook, E. H., Coon, H., Geschwind, D. H., Gill, M., Hallmayer, J., Palotie, A., Santangelo, S., Sutcliffe, J. S., Arking, D. E., Devlin, B., Daly, M. J. & Hakonarson, H., May 22 2017, In : Molecular Autism. 8, 1, 21.

Research output: Contribution to journalArticle

39 Scopus citations

MicroRNA-146a induces lineage-negative bone marrow cell apoptosis and senescence by targeting polo-like kinase 2 expression

Deng, S., Wang, H., Jia, C., Zhu, S., Chu, X., Ma, Q., Wei, J., Chen, E., Zhu, W., Macon, C. J., Jayaweera, D. T., Dykxhoorn, D. M. & Dong, C., Feb 1 2017, In : Arteriosclerosis, Thrombosis, and Vascular Biology. 37, 2, p. 280-290 11 p.

Research output: Contribution to journalArticle

10 Scopus citations

Molecular characteristics of conjunctival melanoma using whole-exome sequencing

Swaminathan, S. S., Field, M. G., Sant, D., Wang, G., Galor, A., Dubovy, S., William Harbour, J. & Karp, C., Dec 1 2017, In : JAMA Ophthalmology. 135, 12, p. 1434-1437 4 p.

Research output: Contribution to journalArticle

7 Scopus citations

Novel atherogenic pathways from the differential transcriptome analysis of diabetic epicardial adipose tissue

Camarena, V., Sant, D., Mohseni, M., Salerno, T., Zaleski, M. L., Wang, G. & Iacobellis, G., Aug 1 2017, In : Nutrition, Metabolism and Cardiovascular Diseases. 27, 8, p. 739-750 12 p.

Research output: Contribution to journalArticle

8 Scopus citations

Novel EYA1 variants causing Branchio-oto-renal syndrome

Klingbeil, K. D., Greenland, C. M., Arslan, S., Llamos Paneque, A., Gurkan, H., Demir Ulusal, S., Maroofian, R., Carrera-Gonzalez, A., Montufar-Armendariz, S., Paredes, R., Elcioglu, N., Menendez, I., Behnam, M., Foster, J., Guo, S., Escarfuller, S., Cengiz, F. B., Duman, D., Bademci, G. & Tekin, M., Jul 1 2017, In : International Journal of Pediatric Otorhinolaryngology. 98, p. 59-63 5 p.

Research output: Contribution to journalArticle

2 Scopus citations

Novel genetic loci associated with hippocampal volume

Hibar, D. P., Adams, H. H. H., Jahanshad, N., Chauhan, G., Stein, J. L., Hofer, E., Renteria, M. E., Bis, J. C., Arias-Vasquez, A., Ikram, M. K., Desrivières, S., Vernooij, M. W., Abramovic, L., Alhusaini, S., Amin, N., Andersson, M., Arfanakis, K., Aribisala, B. S., Armstrong, N. J., Athanasiu, L. & 312 others, Axelsson, T., Beecham, A. H., Beiser, A., Bernard, M., Blanton, S. H., Bohlken, M. M., Boks, M. P., Bralten, J., Brickman, A. M., Carmichael, O., Chakravarty, M. M., Chen, Q., Ching, C. R. K., Chouraki, V., Cuellar-Partida, G., Crivello, F., Den Braber, A., Doan, N. T., Ehrlich, S., Giddaluru, S., Goldman, A. L., Gottesman, R. F., Grimm, O., Griswold, M. E., Guadalupe, T., Gutman, B. A., Hass, J., Haukvik, U. K., Hoehn, D., Holmes, A. J., Hoogman, M., Janowitz, D., Jia, T., Jørgensen, K. N., Karbalai, N., Kasperaviciute, D., Kim, S., Klein, M., Kraemer, B., Lee, P. H., Liewald, D. C. M., Lopez, L. M., Luciano, M., MacAre, C., Marquand, A. F., Matarin, M., Mather, K. A., Mattheisen, M., McKay, D. R., Milaneschi, Y., Muñoz Maniega, S., Nho, K., Nugent, A. C., Nyquist, P., Loohuis, L. M. O., Oosterlaan, J., Papmeyer, M., Pirpamer, L., Pütz, B., Ramasamy, A., Richards, J. S., Risacher, S. L., Roiz-Santiañez, R., Rommelse, N., Ropele, S., Rose, E. J., Royle, N. A., Rundek, T., Sämann, P. G., Saremi, A., Satizabal, C. L., Schmaal, L., Schork, A. J., Shen, L., Shin, J., Shumskaya, E., Smith, A. V., Sprooten, E., Strike, L. T., Teumer, A., Tordesillas-Gutierrez, D., Toro, R., Trabzuni, D., Trompet, S., Vaidya, D., Van Der Grond, J., Van Der Lee, S. J., Van Der Meer, D., Van Donkelaar, M. M. J., Van Eijk, K. R., Van Erp, T. G. M., Van Rooij, D., Walton, E., Westlye, L. T., Whelan, C. D., Windham, B. G., Winkler, A. M., Wittfeld, K., Woldehawariat, G., Wolf, C., Wolfers, T., Yanek, L. R., Yang, J., Zijdenbos, A., Zwiers, M. P., Agartz, I., Almasy, L., Ames, D., Amouyel, P., Andreassen, O. A., Arepalli, S., Assareh, A. A., Barral, S., Bastin, M. E., Becker, D. M., Becker, J. T., Bennett, D. A., Blangero, J., Van Bokhoven, H., Boomsma, D. I., Brodaty, H., Brouwer, R. M., Brunner, H. G., Buckner, R. L., Buitelaar, J. K., Bulayeva, K. B., Cahn, W., Calhoun, V. D., Cannon, D. M., Cavalleri, G. L., Cheng, C. Y., Cichon, S., Cookson, M. R., Corvin, A., Crespo-Facorro, B., Curran, J. E., Czisch, M., Dale, A. M., Davies, G. E., De Craen, A. J. M., De Geus, E. J. C., De Jager, P. L., De Zubicaray, G. I., Deary, I. J., Debette, S., Decarli, C., Delanty, N., Depondt, C., Destefano, A., Dillman, A., Djurovic, S., Donohoe, G., Drevets, W. C., Duggirala, R., Dyer, T. D., Enzinger, C., Erk, S., Espeseth, T., Fedko, I. O., Fernández, G., Ferrucci, L., Fisher, S. E., Fleischman, D. A., Ford, I., Fornage, M., Foroud, T. M., Fox, P. T., Francks, C., Fukunaga, M., Gibbs, J. R., Glahn, D. C., Gollub, R. L., Göring, H. H. H., Green, R. C., Gruber, O., Gudnason, V., Guelfi, S., Håberg, A. K., Hansell, N. K., Hardy, J., Hartman, C. A., Hashimoto, R., Hegenscheid, K., Heinz, A., Le Hellard, S., Hernandez, D. G., Heslenfeld, D. J., Ho, B. C., Hoekstra, P. J., Hoffmann, W., Hofman, A., Holsboer, F., Homuth, G., Hosten, N., Hottenga, J. J., Huentelman, M., Pol, H. E. H., Ikeda, M., Jack, C. R., Jenkinson, M., Johnson, R., Jönsson, E. G., Jukema, J. W., Kahn, R. S., Kanai, R., Kloszewska, I., Knopman, D. S., Kochunov, P., Kwok, J. B., Lawrie, S. M., Lemaître, H., Liu, X., Longo, D. L., Lopez, O. L., Lovestone, S., Martinez, O., Martinot, J. L., Mattay, V. S., McDonald, C., McIntosh, A. M., McMahon, F. J., McMahon, K. L., Mecocci, P., Melle, I., Meyer-Lindenberg, A., Mohnke, S., Montgomery, G. W., Morris, D. W., Mosley, T. H., Mühleisen, T. W., Müller-Myhsok, B., Nalls, M. A., Nauck, M., Nichols, T. E., Niessen, W. J., Nöthen, M. M., Nyberg, L., Ohi, K., Olvera, R. L., Ophoff, R. A., Pandolfo, M., Paus, T., Pausova, Z., Penninx, B. W. J. H., Pike, G. B., Potkin, S. G., Psaty, B. M., Reppermund, S., Rietschel, M., Roffman, J. L., Romanczuk-Seiferth, N., Rotter, J. I., Ryten, M., Sacco, R. L., Sachdev, P. S., Saykin, A. J., Schmidt, R., Schmidt, H., Schofield, P. R., Sigursson, S., Simmons, A., Singleton, A., Sisodiya, S. M., Smith, C., Smoller, J. W., Soininen, H., Steen, V. M., Stott, D. J., Sussmann, J. E., Thalamuthu, A., Toga, A. W., Traynor, B. J., Troncoso, J., Tsolaki, M., Tzourio, C., Uitterlinden, A. G., Hernández, M. C. V., Van Der Brug, M., Van Der Lugt, A., Van Der Wee, N. J. A., Van Haren, N. E. M., Van 'T Ent, D., Van Tol, M. J., Vardarajan, B. N., Vellas, B., Veltman, D. J., Völzke, H., Walter, H., Wardlaw, J. M., Wassink, T. H., Weale, M. E., Weinberger, D. R., Weiner, M. W., Wen, W., Westman, E., White, T., Wong, T. Y., Wright, C. B., Zielke, R. H., Zonderman, A. B., Martin, N. G., Van Duijn, C. M., Wright, M. J., Longstreth, W. T., Schumann, G., Grabe, H. J., Franke, B., Launer, L. J., Medland, S. E., Seshadri, S., Thompson, P. M. & Ikram, M. A., Jan 18 2017, In : Nature Communications. 8, 13624.

Research output: Contribution to journalArticle

71 Scopus citations

Novel mutations in dystonin provide clues to the pathomechanisms of HSAN-VI

Manganelli, F., Parisi, S., Nolano, M., Tao, F., Paladino, S., Pisciotta, C., Tozza, S., Nesti, C., Rebelo, A. P., Provitera, V., Santorelli, F. M., Shy, M. E., Russo, T., Zuchner, S. L. & Santoro, L., May 30 2017, In : Neurology. 88, 22, p. 2132-2140 9 p.

Research output: Contribution to journalArticle

11 Scopus citations

Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort

Cengiz, F. B., Yilmazer, R., Olgun, L., Sennaroglu, L., Kirazli, T., Alper, H., Olgun, Y., Incesulu, A., Atik, T., Huesca-Hernandez, F., Domínguez-Aburto, J., González-Rosado, G., Hernandez-Zamora, E., Arenas-Sordo, M. D. L. L., Menendez, I., Orhan, K. S., Avci, H., Mahdieh, N., Bonyadi, M., Foster, J. & 5 others, Duman, D., Ozkinay, F., Blanton, S. H., Bademci, G. & Tekin, M., Oct 1 2017, In : International Journal of Pediatric Otorhinolaryngology. 101, p. 167-171 5 p.

Research output: Contribution to journalArticle

1 Scopus citations

Novel regulatory mechanisms for the SoxC transcriptional network required for visual pathway development

Chang, K. C., Hertz, J., Zhang, X., Jin, X. L., Shaw, P., Derosa, B. A., Li, J. Y., Venugopalan, P., Valenzuela, D. A., Patel, R. D., Russano, K. R., Alshamekh, S. A., Sun, C., Tenerelli, K., Li, C., Velmeshev, D., Cheng, Y., Boyce, T. M., Dreyfuss, A., Uddin, M. S. & 3 others, Muller, K. J., Dykxhoorn, D. M. & Goldberg, J. L., May 10 2017, In : Journal of Neuroscience. 37, 19, p. 4967-4981 15 p.

Research output: Contribution to journalArticle

12 Scopus citations

PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia

Ozes, B., Karagoz, N., Schüle, R., Rebelo, A., Sobrido, M. J., Harmuth, F., Synofzik, M., Pascual, S. I. P., Colak, M., Ciftci-Kavaklioglu, B., Kara, B., Ordóñez-Ugalde, A., Quintáns, B., Gonzalez, M. A., Soysal, A., Zuchner, S. L. & Battaloglu, E., 2017, (Accepted/In press) In : Clinical Genetics.

Research output: Contribution to journalArticle

15 Scopus citations

Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders

Psychiatric Genomics Consortium Autism Group & iPSYCH-Broad Autism Group, Jul 1 2017, In : Nature Genetics. 49, 7, p. 978-985 8 p.

Research output: Contribution to journalArticle

116 Scopus citations

Rai1 haploinsufficiency is associated with social abnormalities in mice

Rao, N. R., Abad, C., Perez, I. C., Srivastava, A. K., Young, J. & Walz, K., Jun 1 2017, In : Biology. 6, 2, 25.

Research output: Contribution to journalArticle

4 Scopus citations

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

Sims, R., Van Der Lee, S. J., Naj, A. C., Bellenguez, C., Badarinarayan, N., Jakobsdottir, J., Kunkle, B. W., Boland, A., Raybould, R., Bis, J. C., Martin, E. R., Grenier-Boley, B., Heilmann-Heimbach, S., Chouraki, V., Kuzma, A. B., Sleegers, K., Vronskaya, M., Ruiz, A., Graham, R. R., Olaso, R. & 429 others, Hoffmann, P., Grove, M. L., Vardarajan, B. N., Hiltunen, M., Nöthen, M. M., White, C. C., Hamilton-Nelson, K. L., Epelbaum, J., Maier, W., Choi, S. H., Beecham, G. W., Dulary, C., Herms, S., Smith, A. V., Funk, C. C., Derbois, C., Forstner, A. J., Ahmad, S., Li, H., Bacq, D., Harold, D., Satizabal, C. L., Valladares, O., Squassina, A., Thomas, R., Brody, J. A., Qu, L., Sánchez-Juan, P., Morgan, T., Wolters, F. J., Zhao, Y., Garcia, F. S., Denning, N., Fornage, M., Malamon, J., Naranjo, M. C. D., Majounie, E., Mosley, T. H., Dombroski, B., Wallon, D., Lupton, M. 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A., Powell, J., Golde, T. E., Graff, C., De Jager, P. L., Morgan, K., Ertekin-Taner, N., Combarros, O., Psaty, B. M., Passmore, P., Younkin, S. G., Berr, C., Gudnason, V., Rujescu, D., Dickson, D. W., Dartigues, J. F., Destefano, A. L., Ortega-Cubero, S., Hakonarson, H., Campion, D., Boada, M., Kauwe, J. K., Farrer, L. A., Van Broeckhoven, C., Ikram, M. A., Jones, L., Haines, J. L., Tzourio, C., Launer, L. J., Escott-Price, V., Mayeux, R., Pericak-Vance, M. A., Amin, N., Holmans, P. A., Pericak-Vance, M. A., Amouyel, P., Van Duijn, C. M., Ramirez, A., Wang, L. S., Lambert, J. C., Seshadri, S., Williams, J. & Schellenberg, G. D., Sep 1 2017, In : Nature Genetics. 49, 9, p. 1373-1384 12 p.

Research output: Contribution to journalArticle

210 Scopus citations

Recombinant haplotypes narrow the ARMS2/HTRA1 association signal for age-related macular degeneration

International AMD Genomics Consortium (IAMDGC), Feb 1 2017, In : Genetics. 205, 2, p. 919-924 6 p.

Research output: Contribution to journalArticle

24 Scopus citations

Screening of deafness-causing DNA variants that are common in patients of European ancestry using a microarray-based approach

Yan, D., Xiang, G., Chai, X., Qing, J., Shang, H., Mittal, B. Z. R., Shen, J., Smith, R. J. H., Fan, Y-S., Blanton, S. H., Tekin, M., Morton, C., Xing, W., Cheng, J. & Liu, X. Z., Mar 1 2017, In : PLoS One. 12, 3, e0169219.

Research output: Contribution to journalArticle

13 Scopus citations
7 Scopus citations

STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations

Hayer, S. N., Deconinck, T., Bender, B., Smets, K., Zuchner, S. L., Reich, S., Schöls, L., Schüle, R., De Jonghe, P., Baets, J. & Synofzik, M., Feb 13 2017, In : Orphanet Journal of Rare Diseases. 12, 1, 31.

Research output: Contribution to journalArticle

15 Scopus citations

Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy

Abbott, J. A., Meyer-Schuman, R., Lupo, V., Feely, S., Mademan, I., Oprescu, S. N., Griffin, L. B., Alberti, M. A., Casasnovas, C., Aharoni, S., Basel-Vanagaite, L., Zuchner, S. L., De Jonghe, P., Baets, J., Shy, M. E., Espinós, C., Demeler, B., Antonellis, A. & Francklyn, C., Jan 1 2017, (Accepted/In press) In : Human Mutation.

Research output: Contribution to journalArticle

6 Scopus citations

Systems genetics identifies a role for Cacna2d1 regulation in elevated intraocular pressure and glaucoma susceptibility

Chintalapudi, S. R., Maria, D., Di Wang, X., Bailey, J. N. C., Allingham, R., Brilliant, M., Budenz, D., Fingert, J., Gaasterland, D., Gaasterland, T., Haines, J. L., Hark, L., Hauser, M., Igo, R., Hee Kang, J., Kraft, P., Lee, R. K., Lichter, P., Liu, Y., Moroi, S. & 43 others, Pasquale, L. R., Pericak-Vance, M. A., Realini, A., Rhee, D., Richards, J. R., Ritch, R., Schuman, J., Scott, W. K., Singh, K., Sit, A., Vollrath, D., Wollstein, G., Zack, D., Aung, T., Bonnemaijer, P., Cheng, C. Y., Craig, J., Van Duijn, C., Gharahkhani, P., Iglesias Gonzalez, A., Hammond, C. J., Hewitt, A., Hoehn, R., Jonansson, F., Khawaja, A., Chuen Khor, C., Klaver, C. C. W., Lotery, A., MacKey, D., MacGregor, S., Pang, C., Pasutto, F., Stefansson, K., Thorleifsson, G., Thorsteinsdottir, U., Vitart, V., Vithana, E., Young, T., Zeller, T., Hysi, P. G., Wiggs, J. L., Williams, R. W. & Jablonski, M. M., Dec 1 2017, In : Nature Communications. 8, 1, 1755.

Research output: Contribution to journalArticle

4 Scopus citations

Targeted sequencing of ABCA7 identifies splicing, stop-gain and intronic risk variants for Alzheimer disease

Kunkle, B. W., Carney, R. M., Kohli, M. A., Naj, A. C., Hamilton-Nelson, K. L., Whitehead, P. L., Wang, L., Lang, R., Cuccaro, M., Vance, J. M., Byrd, G. S., Beecham, G. W., Gilbert, J., Martin, E. R., Haines, J. L. & Pericak-Vance, M. A., May 10 2017, In : Neuroscience Letters. 649, p. 124-129 6 p.

Research output: Contribution to journalArticle

4 Scopus citations

The autoimmune risk gene ZMIZ1 is a vitamin D responsive marker of a molecular phenotype of multiple sclerosis

Fewings, N. L., Gatt, P. N., McKay, F. C., Parnell, G. P., Schibeci, S. D., Edwards, J., Basuki, M. A., Goldinger, A., Fabis-Pedrini, M. J., Kermode, A. G., Manrique, C. P., McCauley, J. L., Nickles, D., Baranzini, S. E., Burke, T., Vucic, S., Stewart, G. J. & Booth, D. R., Mar 1 2017, In : Journal of Autoimmunity. 78, p. 57-69 13 p.

Research output: Contribution to journalArticle

11 Scopus citations

The human phenotype ontology in 2017

Köhler, S., Vasilevsky, N. A., Engelstad, M., Foster, E., McMurry, J., Aymé, S., Baynam, G., Bello, S. M., Boerkoel, C. F., Boycott, K. M., Brudno, M., Buske, O. J., Chinnery, P. F., Cipriani, V., Connell, L. E., Dawkins, H. J. S., DeMare, L. E., Devereau, A. D., De Vries, B. B. A., Firth, H. V. & 39 others, Freson, K., Greene, D., Hamosh, A., Helbig, I., Hum, C., Jähn, J. A., James, R., Krause, R., Laulederkind, S. J. F., Lochmüller, H., Lyon, G. J., Ogishima, S., Olry, A., Ouwehand, W. H., Pontikos, N., Rath, A., Schaefer, F., Scott, R. H., Segal, M., Sergouniotis, P. I., Sever, R., Smith, C. L., Straub, V., Thompson, R., Turner, C., Turro, E., Veltman, M. W. M., Vulliamy, T., Yu, J., Von Ziegenweidt, J., Zankl, A., Zuchner, S. L., Zemojtel, T., Jacobsen, J. O. B., Groza, T., Smedley, D., Mungall, C. J., Haendel, M. & Robinson, P. N., Jan 1 2017, In : Nucleic Acids Research. 45, D1, p. D865-D876

Research output: Contribution to journalArticle

302 Scopus citations

TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics

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151 Scopus citations