Hussman Institute for Human Genomics

Search results

  • 2017

    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. & Santoro, L., May 30 2017, In: Neurology. 88, 22, p. 2132-2140 9 p.

    Research output: Contribution to journalArticlepeer-review

    21 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 2017, In: International Journal of Pediatric Otorhinolaryngology. 101, p. 167-171 5 p.

    Research output: Contribution to journalArticlepeer-review

    4 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 journalArticlepeer-review

    24 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. & Battaloglu, E., Nov 2017, In: Clinical Genetics. 92, 5, p. 534-539 6 p.

    Research output: Contribution to journalArticlepeer-review

    21 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 journalArticlepeer-review

    199 Scopus citations
  • Rai1 haploinsufficiency is associated with social abnormalities in mice

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

    Research output: Contribution to journalArticlepeer-review

    5 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. & 426 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. K., Dupuis, J., Whitehead, P., Fratiglioni, L., Medway, C., Jian, X., Mukherjee, S., Keller, L., Brown, K., Lin, H., Cantwell, L. B., Panza, F., McGuinness, B., Moreno-Grau, S., Burgess, J. D., Solfrizzi, V., Proitsi, P., Adams, H. H., Allen, M., Seripa, D., Pastor, P., Cupples, L. A., Price, N. D., Hannequin, D., Frank-García, A., Levy, D., Chakrabarty, P., Caffarra, P., Giegling, I., Beiser, A. S., Giedraitis, V., Hampel, H., Garcia, M. E., Wang, X., Lannfelt, L., Mecocci, P., Eiriksdottir, G., Crane, P. K., Pasquier, F., Boccardi, V., Henández, I., Barber, R. C., Scherer, M., Tarraga, L., Adams, P. M., Leber, M., Chen, Y., Albert, M. S., Riedel-Heller, S., Emilsson, V., Beekly, D., Braae, A., Schmidt, R., Blacker, D., Masullo, C., Schmidt, H., Doody, R. S., Spalletta, G., Longstreth, W. T., Fairchild, T. J., Bossù, P., Lopez, O. L., Frosch, M. P., Sacchinelli, E., Ghetti, B., Yang, Q., Huebinger, R. M., Jessen, F., Li, S., Kamboh, M. I., Morris, J. C., Sotolongo-Grau, O., Katz, M. J., Corcoran, C., Dunstan, M., Braddel, A., Thomas, C., Meggy, A., Marshall, R., Gerrish, A., Chapman, J., Aguilar, M., Taylor, S., Hill, M., Fairén, M. D., Hodges, A., Vellas, B., Soininen, H., Kloszewska, I., Daniilidou, M., Uphill, J., Patel, Y., Hughes, J. T., Lord, J., Turton, J., Hartmann, A. M., Cecchetti, R., Fenoglio, C., Serpente, M., Arcaro, M., Caltagirone, C., Orfei, M. D., Ciaramella, A., Pichler, S., Mayhaus, M., Gu, W., Lleó, A., Fortea, J., Blesa, R., Barber, I. S., Brookes, K., Cupidi, C., Maletta, R. G., Carrell, D., Sorbi, S., Moebus, S., Urbano, M., Pilotto, A., Kornhuber, J., Bosco, P., Todd, S., Craig, D., Johnston, J., Gill, M., Lawlor, B., Lynch, A., Fox, N. C., Hardy, J., Albin, R. L., Apostolova, L. G., Arnold, S. E., Asthana, S., Atwood, C. S., Baldwin, C. T., Barnes, L. L., Barral, S., Beach, T. G., Becker, J. T., Bigio, E. H., Bird, T. D., Boeve, B. F., Bowen, J. D., Boxer, A., Burke, J. R., Burns, J. M., Buxbaum, J. D., Cairns, N. J., Cao, C., Carlson, C. S., Carlsson, C. M., Carney, R. M., Carrasquillo, M. M., Carroll, S. L., Diaz, C. C., Chui, H. C., Clark, D. G., Cribbs, D. H., Crocco, E. A., Decarli, C., Dick, M., Duara, R., Evans, D. A., Faber, K. M., Fallon, K. B., Fardo, D. W., Farlow, M. R., Ferris, S., Foroud, T. M., Galasko, D. R., Gearing, M., Geschwind, D. H., Gilbert, J. R., Graff-Radford, N. R., Green, R. C., Growdon, J. H., Hamilton, R. L., Harrell, L. E., Honig, L. S., Huentelman, M. J., Hulette, C. M., Hyman, B. T., Jarvik, G. P., Abner, E., Jin, L. W., Jun, G., Karydas, A., Kaye, J. A., Kim, R., Kowall, N. W., Kramer, J. H., Laferla, F. M., Lah, J. J., Leverenz, J. B., Levey, A. I., Li, G., Lieberman, A. P., Lunetta, K. L., Lyketsos, C. G., Marson, D. C., Martiniuk, F., Mash, D. C., Masliah, E., McCormick, W. C., McCurry, S. M., McDavid, A. N., McKee, A. C., Mesulam, M., Miller, B. L., Miller, C. A., Miller, J. W., Murrell, J. R., Myers, A. J., O'Bryant, S., Olichney, J. M., Pankratz, V. S., Parisi, J. E., Paulson, H. L., Perry, W., Peskind, E., Pierce, A., Poon, W. W., Potter, H., Quinn, J. F., Raj, A., Raskind, M., Reisberg, B., Reitz, C., Ringman, J. M., Roberson, E. D., Rogaeva, E., Rosen, H. J., Rosenberg, R. N., Sager, M. A., Saykin, A. J., Schneider, J. A., Schneider, L. S., Seeley, W. W., Smith, A. G., Sonnen, J. A., Spina, S., Stern, R. A., Swerdlow, R. H., Tanzi, R. E., Thornton-Wells, T. A., Trojanowski, J. Q., Troncoso, J. C., Van Deerlin, V. M., Van Eldik, L. J., Vinters, H. V., Vonsattel, J. P., Weintraub, S., Welsh-Bohmer, K. A., Wilhelmsen, K. C., Williamson, J., Wingo, T. S., Woltjer, R. L., Wright, C. B., Yu, C. E., Yu, L., Garzia, F., Golamaully, F., Septier, G., Engelborghs, S., Vandenberghe, R., De Deyn, P. P., Fernadez, C. M., Benito, Y. A., Thonberg, H., Forsell, C., Lilius, L., Kinhult-Stählbom, A., Kilander, L., Brundin, R., Concari, L., Helisalmi, S., Koivisto, A. M., Haapasalo, A., Dermecourt, V., Fievet, N., Hanon, O., Dufouil, C., Brice, A., Ritchie, K., Dubois, B., Himali, J. J., Keene, C. D., Tschanz, J., Fitzpatrick, A. L., Kukull, W. A., Norton, M., Aspelund, T., Larson, E. B., Munger, R., Rotter, J. I., Lipton, R. B., Bullido, M. J., Hofman, A., Montine, T. J., Coto, E., Boerwinkle, E., Petersen, R. C., Alvarez, V., Rivadeneira, F., Reiman, E. M., Gallo, M., O'Donnell, C. J., Reisch, J. S., Bruni, A. C., Royall, D. R., Dichgans, M., Sano, M., Galimberti, D., St George-Hyslop, P., Scarpini, E., Tsuang, D. W., Mancuso, M., Bonuccelli, U., Winslow, A. R., Daniele, A., Wu, C. K., Peters, O., Nacmias, B., Riemenschneider, M., Heun, R., Brayne, C., Rubinsztein, D. C., Bras, J., Guerreiro, R., Al-Chalabi, A., Shaw, C. E., Collinge, J., Mann, D., Clarimón, J., Sussams, R., Lovestone, S., O'Donovan, M. C., Owen, M. J., Behrens, T. W., Mead, S., Uitterlinden, A. G., Uitterlinden, A. G., Cruchaga, C., Ingelsson, M., Bennett, D. 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., Deleuze, J. F., Amin, N., Goate, A. M., Pericak-Vance, M. A., Holmans, P. A., 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 journalArticlepeer-review

    393 Scopus citations
  • Recombinant haplotypes narrow the ARMS2/HTRA1 association signal for age-related macular degeneration

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

    Research output: Contribution to journalArticlepeer-review

    38 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 2017, In: PloS one. 12, 3, e0169219.

    Research output: Contribution to journalArticlepeer-review

    18 Scopus citations
  • Sickle cell trait and renal function in hispanics in th e United States: The North Ern Manhatt an study

    Dueker, N. D., Della-Morte, D., Rundek, T., Sacco, R. L. & Blanton, S. H., Dec 1 2017, In: Ethnicity and Disease. 27, 1, p. 11-14 4 p.

    Research output: Contribution to journalArticlepeer-review

    10 Scopus citations
  • Single marker family-based association analysis conditional on parental information

    Chung, R. H., Kinnamon, D. D. & Martin, E. R., 2017, Methods in Molecular Biology. Humana Press Inc., Vol. 1666. p. 391-407 17 p. (Methods in Molecular Biology; vol. 1666).

    Research output: Chapter in Book/Report/Conference proceedingChapter

  • 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., Züchner, S., 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 journalArticlepeer-review

    31 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., Lichter, P., Liu, Y., Moroi, S. & 43 others, Pasquale, L. R., Pericak-Vance, M., 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 journalArticlepeer-review

    17 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. L., Vance, J. M., Byrd, G. S., Beecham, G. W., Gilbert, J. R., 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 journalArticlepeer-review

    6 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 journalArticlepeer-review

    17 Scopus citations
  • The genetic basis of deafness in populations of African descent

    Rudman, J. R., Kabahuma, R. I., Bressler, S. E., Feng, Y., Blanton, S. H., Yan, D. & Liu, X. Z., Jun 20 2017, In: Journal of Genetics and Genomics. 44, 6, p. 285-294 10 p.

    Research output: Contribution to journalReview articlepeer-review

    24 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., Züchner, S., 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 journalArticlepeer-review

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

    Mackenzie, I. R., Nicholson, A. M., Sarkar, M., Messing, J., Purice, M. D., Pottier, C., Annu, K., Baker, M., Perkerson, R. B., Kurti, A., Matchett, B. J., Mittag, T., Temirov, J., Hsiung, G. Y. R., Krieger, C., Murray, M. E., Kato, M., Fryer, J. D., Petrucelli, L., Zinman, L. & 22 others, Weintraub, S., Mesulam, M., Keith, J., Zivkovic, S. A., Hirsch-Reinshagen, V., Roos, R. P., Züchner, S., Graff-Radford, N. R., Petersen, R. C., Caselli, R. J., Wszolek, Z. K., Finger, E., Lippa, C., Lacomis, D., Stewart, H., Dickson, D. W., Kim, H. J., Rogaeva, E., Bigio, E., Boylan, K. B., Taylor, J. P. & Rademakers, R., Aug 16 2017, In: Neuron. 95, 4, p. 808-816.e9

    Research output: Contribution to journalArticlepeer-review

    281 Scopus citations
  • Toward Genetics-Driven Early Intervention in Dilated Cardiomyopathy: Design and Implementation of the DCM Precision Medicine Study

    Kinnamon, D. D., Morales, A., Bowen, D. J., Burke, W., Hershberger, R. E., Morales, A., Bowen, D. J., Gastier-Foster, J. M., Nickerson, D. A., Dorschner, M. O., Haas, G., Abraham, W., Binkley, P., Hasan, A., Host, J., Lampert, B., Smith, S., Huggins, G., Denofrio, D., Kiernan, M. & 40 others, Fishbein, D., Cheng, R., Dardas, T., Levy, W., Mahr, C., Masri, S., Stempien-Otero, A., Gottlieb, S., Wheeler, M., Ashley, E., Platt, J., Hofmeyer, M., Tang, W., Starling, R., Moran, R., Owens, A., Marguilies, K., Cappola, T., Goldberg, L., Brozena, S., Rame, J., McLean, R., Moore, C., Deshazo, M., Long, R., Jimenez Carcamo, F., Hrachian-Haftevani, H., Trachtenberg, B., Ashrith, G., Bhimarahj, A., Estep, J., Sweitzer, N., Bustamante, C. D., Jarvik, G. P., Martin, E. R., Rehm, H., Desvigne-Nickens, P., Troendle, J., Fu, Y. P. & Hindorff, L., Dec 1 2017, In: Circulation: Cardiovascular Genetics. 10, 6, e001826.

    Research output: Contribution to journalArticlepeer-review

    22 Scopus citations
  • Transethnic genome-wide scan identifies novel Alzheimer's disease loci

    Alzheimer's Disease Genetics Consortium, Jul 2017, In: Alzheimer's and Dementia. 13, 7, p. 727-738 12 p.

    Research output: Contribution to journalArticlepeer-review

    74 Scopus citations
  • Two novel loci, COBL and SLC10A2, for Alzheimer's disease in African Americans

    Alzheimer's Disease Genetics Consortium, Feb 1 2017, In: Alzheimer's and Dementia. 13, 2, p. 119-129 11 p.

    Research output: Contribution to journalArticlepeer-review

    35 Scopus citations
  • Uniparental disomy determined by whole-exome sequencing in a spectrum of rare motoneuron diseases and ataxias

    Bis, D. M., Schüle, R., Reichbauer, J., Synofzik, M., Rattay, T. W., Soehn, A., de Jonghe, P., Schöls, L. & Züchner, S., May 2017, In: Molecular Genetics and Genomic Medicine. 5, 3, p. 280-286 7 p.

    Research output: Contribution to journalArticlepeer-review

    15 Scopus citations
  • Whole Exome Sequencing of Lacrimal Gland Adenoid Cystic Carcinoma

    Sant, D. W., Tao, W., Field, M. G., Pelaez, D., Jin, K., Capobianco, A., Dubovy, S. R., Tse, D. T. & Wang, G., May 1 2017, In: Investigative ophthalmology & visual science. 58, 6, p. BIO240-BIO246

    Research output: Contribution to journalArticlepeer-review

    13 Scopus citations
  • 2016

    2016 in review and message from the Editors to Our Reviewers

    Pulst, S. M., Johnson, N. E., Durr, A., Pandolfo, M., Roos, R. P. & Vance, J. M., 2016, In: Neurology: Genetics. 3, 1, e132.

    Research output: Contribution to journalReview articlepeer-review

  • ABCA7 frameshift deletion associated with Alzheimer disease in African Americans

    Cukier, H. N., Kunkle, B. W., Vardarajan, B. N., Rolati, S., Hamilton-Nelson, K. L., Kohli, M. A., Whitehead, P. L., Dombroski, B. A., Van Booven, D., Lang, R., Dykxhoorn, D. M., Farrer, L. A., Cuccaro, M. L., Vance, J. M., Gilbert, J. R., Beecham, G. W., Martin, E. R., Carney, R. M., Mayeux, R., Schellenberg, G. D. & 3 others, Byrd, G. S., Haines, J. L. & Pericak-Vance, M. A., Jun 1 2016, In: Neurology: Genetics. 2, 3, e79.

    Research output: Contribution to journalArticlepeer-review

    35 Scopus citations
  • A childhood acute lymphoblastic leukemia genome-wide association study identifies novel sex-specific risk variants

    Singh, S. K., Lupo, P. J., Scheurer, M. E., Saxena, A., Kennedy, A. E., Ibrahimou, B., Barbieri, M. A., Mills, K. I., McCauley, J. L., Okcu, M. F. & Dorak, M. T., 2016, In: Medicine (United States). 95, 46, e5300.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    8 Scopus citations
  • A common variant in MIR182 is associated with primary open-angle glaucoma in the NEIGHBORHOOD consortium

    Liu, Y., Bailey, J. C., Helwa, I., Dismuke, W. M., Cai, J., Drewry, M., Brilliant, M. H., Budenz, D. L., Christen, W. G., Chasman, D. I., Fingert, J. H., Gaasterland, D., Gaasterland, T., Gordon, M. O., Igo, R. P., Kang, J. H., Kass, M. A., Kraft, P., Lee, R. K., Lichter, P. & 25 others, Moroi, S. E., Realini, A., Richards, J. E., Ritch, R., Schuman, J. S., Scott, W. K., Singh, K., Sit, A. J., Song, Y. E., Vollrath, D., Weinreb, R., Medeiros, F., Wollstein, G., Zack, D. J., Zhang, K., Pericak-Vance, M. A., Gonzalez, P., Stamer, W. D., Kuchtey, J., Kuchtey, R. W., Allingham, R. R., Hauser, M. A., Pasquale, L. R., Haines, J. L. & Wiggs, J. L., Aug 1 2016, In: Investigative Ophthalmology and Visual Science. 57, 10, p. 4528-4535 8 p.

    Research output: Contribution to journalArticlepeer-review

    27 Scopus citations
  • Acute leukemia in adult Hispanic Americans: A large-population study

    Swords, R., Sznol, J., Elias, R., Watts, J., Zelent, A., Martin, E., Vargas, F., Bethel-Ellison, S. & Kobetz, E., Oct 14 2016, In: Blood cancer journal. 6, 10, e484.

    Research output: Contribution to journalLetterpeer-review

    9 Scopus citations
  • A Frameshift in CSF2RB Predominant Among Ashkenazi Jews Increases Risk for Crohn's Disease and Reduces Monocyte Signaling via GM-CSF

    Chuang, L. S., Villaverde, N., Hui, K. Y., Mortha, A., Rahman, A., Levine, A. P., Haritunians, T., Evelyn Ng, S. M., Zhang, W., Hsu, N. Y., Facey, J. A., Luong, T., Fernandez-Hernandez, H., Li, D., Rivas, M., Schiff, E. R., Gusev, A., Schumm, L. P., Bowen, B. M., Sharma, Y. & 40 others, Ning, K., Remark, R., Gnjatic, S., Legnani, P., George, J., Sands, B. E., Stempak, J. M., Datta, L. W., Lipka, S., Katz, S., Cheifetz, A. S., Barzilai, N., Pontikos, N., Abraham, C., Dubinsky, M. J., Targan, S., Taylor, K., Rotter, J. I., Scherl, E. J., Desnick, R. J., Abreu, M. T., Zhao, H., Atzmon, G., Pe'er, I., Kugathasan, S., Hakonarson, H., McCauley, J. L., Lencz, T., Darvasi, A., Plagnol, V., Silverberg, M. S., Muise, A. M., Brant, S. R., Daly, M. J., Segal, A. W., Duerr, R. H., Merad, M., McGovern, D. P. B., Peter, I. & Cho, J. H., Oct 1 2016, In: Gastroenterology. 151, 4, p. 710-723.e2

    Research output: Contribution to journalArticlepeer-review

    35 Scopus citations
  • A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3

    Leslie, E. J., Liu, H., Carlson, J. C., Shaffer, J. R., Feingold, E., Wehby, G., Laurie, C. A., Jain, D., Laurie, C. C., Doheny, K. F., McHenry, T., Resick, J., Sanchez, C., Jacobs, J., Emanuele, B., Vieira, A. R., Neiswanger, K., Standley, J., Czeizel, A. E., Deleyiannis, F. & 38 others, Christensen, K., Munger, R. G., Lie, R. T., Wilcox, A., Romitti, P. A., Field, L. L., Padilla, C. D., Cutiongco-De La Paz, E. M. C., Lidral, A. C., Valencia-Ramirez, L. C., Lopez-Palacio, A. M., Valencia, D. R., Arcos-Burgos, M., Castilla, E. E., Mereb, J. C., Poletta, F. A., Orioli, I. M., Carvalho, F. M., Hecht, J. T., Blanton, S. H., Buxó, C. J., Butali, A., Mossey, P. A., Adeyemo, W. L., James, O., Braimah, R. O., Aregbesola, B. S., Eshete, M. A., Deribew, M., Koruyucu, M., Seymen, F., Ma, L., De Salamanca, J. E., Weinberg, S. M., Moreno, L., Cornell, R. A., Murray, J. C. & Marazita, M. L., Apr 7 2016, In: American journal of human genetics. 98, 4, p. 744-754 11 p.

    Research output: Contribution to journalArticlepeer-review

    80 Scopus citations
  • A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

    Fritsche, L. G., Igl, W., Bailey, J. N. C., Grassmann, F., Sengupta, S., Bragg-Gresham, J. L., Burdon, K. P., Hebbring, S. J., Wen, C., Gorski, M., Kim, I. K., Cho, D., Zack, D., Souied, E., Scholl, H. P. N., Bala, E., ELee, K., Hunter, D. J., Sardell, R. J., Mitchell, P. & 142 others, Merriam, J. E., Cipriani, V., Hoffman, J. D., Schick, T., Lechanteur, Y. T. E., Guymer, R. H., Johnson, M. P., Jiang, Y., Stanton, C. M., Buitendijk, G. H. S., Zhan, X., Kwong, A. M., Boleda, A., Brooks, M., Gieser, L., Ratnapriya, R., Branham, K. E., Foerster, J. R., Heckenlively, J. R., Othman, M. I., Vote, B. J., Liang, H. H., Souzeau, E., McAllister, I. L., Isaacs, T., Hall, J., Lake, S., Mackey, D. A., Constable, I. J., Craig, J. E., Kitchner, T. E., Yang, Z., Su, Z., Luo, H., Chen, D., Ouyang, H., Flagg, K., Lin, D., Mao, G., Ferreyra, H., Stark, K., Von Strachwitz, C. N., Wolf, A., Brandl, C., Rudolph, G., Olden, M., Morrison, M. A., Morgan, D. J., Schu, M., Ahn, J., Silvestri, G., Tsironi, E. E., Park, K. H., Farrer, L. A., Orlin, A., Brucker, A., Li, M., Curcio, C. A., Mohand-Sa'd, S., Sahel, J. A., Audo, I., Benchaboune, M., Cree, A. J., Rennie, C. A., Goverdhan, S. V., Grunin, M., Hagbi-Levi, S., Campochiaro, P., Katsanis, N., Holz, F. G., Blond, F., Blanché, H., Deleuze, J. F. O., Igo, R. P., Truitt, B., Peachey, N. S., Meuer, S. M., Myers, C. E., Moore, E. L., Klein, R., Hauser, M. A., Postel, E. A., Courtenay, M. D., Schwartz, S. G., Kovach, J. L., Scott, W. K., Liew, G., Tan, A. G., Gopinath, B., Merriam, J. C., Smith, R. T., Khan, J. C., Shahid, H., Moore, A. T., McGrath, J. A., Laux, R., Brantley, M. A., Agarwal, A., Ersoy, L., Caramoy, A., Langmann, T., Saksens, N. T. M., Jong, E. K., Hoyng, C. B., Cain, M. S., Richardson, A. J., Martin, T. M., Blangero, J., Weeks, D. E., Dhillon, B., Van Duijn, C. M., Doheny, K. F., Romm, J., Klaver, C. C. W., Hayward, C., Gorin, M. B., Klein, M. L., Baird, P. N., Den Hollander, A. I., Fauser, S., WYates, J. R., Allikmets, R., Wang, J. J., Schaumberg, D. A., Klein, B. E. K., Hagstrom, S. A., Chowers, I., Lotery, A. J., Léveillard, T., Zhang, K., Brilliant, M. H., Hewitt, A. W., Swaroop, A., Chew, E. Y., Pericak-Vance, M. A., DeAngelis, M., Stambolian, D., Haines, J. L., Iyengar, S. K., Weber, B. H. F., Abecasis, G. R. & Heid, I. M., Feb 1 2016, In: Nature genetics. 48, 2, p. 134-143 10 p.

    Research output: Contribution to journalArticlepeer-review

    622 Scopus citations
  • A Locus at 5q33.3 Confers Resistance to Tuberculosis in Highly Susceptible Individuals

    Sobota, R. S., Stein, C. M., Kodaman, N., Scheinfeldt, L. B., Maro, I., Wieland-Alter, W., Igo, R. P., Magohe, A., Malone, L. L., Chervenak, K., Hall, N. B., Modongo, C., Zetola, N., Matee, M., Joloba, M., Froment, A., Nyambo, T. B., Moore, J. H., Scott, W. K., Lahey, T. & 5 others, Boom, W. H., Von Reyn, C. F., Tishkoff, S. A., Sirugo, G. & Williams, S. M., Mar 3 2016, In: American journal of human genetics. 98, 3, p. 514-524 11 p.

    Research output: Contribution to journalArticlepeer-review

    45 Scopus citations
  • Alzheimer's disease risk polymorphisms regulate gene expression in the ZCWPW1 and the CELF1 loci

    Alzheimer's Disease Genetics Consortium (ADGC), Feb 2016, In: PloS one. 11, 2, e0148717.

    Research output: Contribution to journalArticlepeer-review

    49 Scopus citations
  • A Mayan founder mutation is a common cause of deafness in Guatemala

    Carranza, C., Menendez, I., Herrera, M., Castellanos, P., Amado, C., Maldonado, F., Rosales, L., Escobar, N., Guerra, M., Alvarez, D., Foster, J., Guo, S., Blanton, S. H., Bademci, G. & Tekin, M., Apr 1 2016, In: Clinical Genetics. 89, 4, p. 461-465 5 p.

    Research output: Contribution to journalArticlepeer-review

    10 Scopus citations
  • Aminoglycoside induced ototoxicity associated with mitochondrial DNA mutations

    Foster, J. & Tekin, M., Jul 1 2016, In: Egyptian Journal of Medical Human Genetics. 17, 3, p. 287-293 7 p.

    Research output: Contribution to journalReview articlepeer-review

    1 Scopus citations
  • A multi-ethnic genome-wide association study identifies novel loci for non-syndromic cleft lip with or without cleft palate on 2p 24.2, 17q23 and 19q13

    Leslie, E. J., Carlson, J. C., Shaffer, J. R., Feingold, E., Wehby, G., Laurie, C. A., Jain, D., Laurie, C. C., Doheny, K. F., McHenry, T., Resick, J., Sanchez, C., Jacobs, J., Emanuele, B., Vieira, A. R., Neiswanger, K., Lidral, A. C., Valencia-Ramirez, L. C., Lopez-Palacio, A. M., Valencia, D. R. & 36 others, Arcos-Burgos, M., Czeizel, A. E., Field, L. L., Padilla, C. D., Maria, E., Cutiongco-de la Paz, C., Deleyiannis, F., Christensen, K., Munger, R. G., Lie, R. T., Wilcox, A., Romitti, P. A., Castilla, E. E., Mereb, J. C., Poletta, F. A., Orioli, I. M., Carvalho, F. M., Hecht, J. T., Blanton, S. H., Buxó, C. J., Butali, A., Mossey, P. A., Adeyemo, W. L., James, O., Braimah, R. O., Aregbesola, B. S., Eshete, M. A., Abate, F., Koruyucu, M., Seymen, F., Ma, L., de Salamanca, J. E., Weinberg, S. M., Moreno, L., Murray, J. C. & Marazita, M. L., 2016, In: Human molecular genetics. 25, 13, p. 2862-2872 11 p.

    Research output: Contribution to journalArticlepeer-review

    104 Scopus citations
  • A mutation in SLC22A4 encoding an organic cation transporter expressed in the cochlea strial endothelium causes human recessive non-syndromic hearing loss DFNB60

    Ben Said, M., Grati, M., Ishimoto, T., Zou, B., Chakchouk, I., Ma, Q., Yao, Q., Hammami, B., Yan, D., Mittal, R., Nakamichi, N., Ghorbel, A., Neng, L., Tekin, M., Shi, X. R., Kato, Y., Masmoudi, S., Lu, Z., Hmani, M. & Liu, X., May 1 2016, In: Human genetics. 135, 5, p. 513-524 12 p.

    Research output: Contribution to journalArticlepeer-review

    17 Scopus citations
  • A next-generation sequencing gene panel (MiamiOtoGenes) for comprehensive analysis of deafness genes

    Tekin, D., Yan, D., Bademci, G., Feng, Y., Guo, S., Foster, J., Blanton, S., Tekin, M. & Liu, X., Mar 1 2016, In: Hearing Research. 333, p. 179-184 6 p.

    Research output: Contribution to journalArticlepeer-review

    29 Scopus citations
  • A novel Alzheimer disease locus located near the gene encoding tau protein

    Jun, G., Ibrahim-Verbaas, C. A., Vronskaya, M., Lambert, J. C., Chung, J., Naj, A. C., Kunkle, B. W., Wang, L. S., Bis, J. C., Bellenguez, C., Harold, D., Lunetta, K. L., Destefano, A. L., Grenier-Boley, B., Sims, R., Beecham, G. W., Smith, A. V., Chouraki, V., Hamilton-Nelson, K. L., Ikram, M. A. & 332 others, Fievet, N., Denning, N., Martin, E. R., Schmidt, H., Kamatani, Y., Dunstan, M. L., Valladares, O., Laza, A. R., Zelenika, D., Ramirez, A., Foroud, T. M., Choi, S. H., Boland, A., Becker, T., Kukull, W. A., Van Der Lee, S. J., Pasquier, F., Cruchaga, C., Beekly, D., Fitzpatrick, A. L., Hanon, O., Gill, M., Barber, R., Gudnason, V., Campion, D., Love, S., Bennett, D. A., Amin, N., Berr, C., Tsolaki, M., Buxbaum, J. D., Lopez, O. L., Deramecourt, V., Fox, N. C., Cantwell, L. B., Tárraga, L., Dufouil, C., Hardy, J., Crane, P. K., Eiriksdottir, G., Hannequin, D., Clarke, R., Evans, D., Mosley, T. H., Letenneur, L., Brayne, C., Maier, W., De Jager, P., Emilsson, V., Dartigues, J. F., Hampel, H., Kamboh, M. I., De Bruijn, R. F. A. G., Tzourio, C., Pastor, P., Larson, E. B., Rotter, J. I., O'Donovan, M. C., Montine, T. J., Nalls, M. A., Mead, S., Reiman, E. M., Jonsson, P. V., Holmes, C., St George-Hyslop, P. H., Boada, M., Passmore, P., Wendland, J. R., Schmidt, R., Morgan, K., Winslow, A. R., Powell, J. F., Carasquillo, M., Younkin, S. G., Jakobsdóttir, J., Kauwe, J. S. K., Wilhelmsen, K. C., Rujescu, D., Nöthen, M. M., Hofman, A., Jones, L., Haines, J. L., Psaty, B. M., Van Broeckhoven, C., Holmans, P., Launer, L. J., Mayeux, R., Lathrop, M., Goate, A. M., Escott-Price, V., Seshadri, S., Pericak-Vance, M. A., Amouyel, P., Williams, J., Van Duijn, C. M., Schellenberg, G. D., Farrer, L. A., Adams, P. M., Albert, M. S., Albin, R. L., Apostolova, L. G., Arnold, S. E., Asthana, S., Atwood, C. S., Baldwin, C. T., Barmada, M. M., Barnes, L. L., Beach, T. G., Bigio, E. H., Bird, T. D., Blacker, D., Boeve, B. F., Bowen, J. D., Boxer, A., Burke, J. R., Cairns, N. J., Cao, C., Carlson, C. S., Carlsson, C. M., Carney, R. M., Carrasquillo, M. M., Carroll, S. L., Chui, H. C., Clark, D. G., Corneveaux, J., Cribbs, D. H., Crocco, E. A., DeCarli, C., DeKosky, S. T., Yesim Demirci, F., Dick, M., Dickson, D. W., Doody, R. S., Duara, R., Ertekin-Taner, N., Faber, K. M., Fairchild, T. J., Fallon, K. B., Farlow, M. R., Ferris, S., Frosch, M. P., Galasko, D. R., Gearing, M., Geschwind, D. H., Ghetti, B., Gilbert, J. R., Glass, J. D., Graff-Radford, N. R., Green, R. C., Growdon, J. H., Hakonarson, H., Hamilton, R. L., Harrell, L. E., Head, E., Honig, L. S., Huebinger, R. M., Huentelman, M. J., Hulette, C. M., Hyman, B. T., Jarvik, G. P., Jicha, G. A., Jin, L. W., Karydas, A., Kaye, J. A., Kim, R., Koo, E. H., Kowall, N. W., Kramer, J. H., LaFerla, F. M., Lah, J. J., Leverenz, J. B., Levey, A. I., Li, G., Lieberman, A. P., Lin, C. F., Lyketsos, C. G., Mack, W. J., Marson, D. C., Martiniuk, F., Mash, D. C., Masliah, E., McCormick, W. C., McCurry, S. 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E., Yu, L., Thomas, C., Gerrish, A., Chapman, J., Stretton, A., Morgan, A., Oldham, H., Owen, M. J., Kehoe, P. G., Medway, C., Brown, K., Lord, J., Turton, J., Hooper, N. M., Vardy, E., Warren, J. D., Schott, J. M., Uphill, J., Hollingworth, P., Ryan, N., Rossor, M., Collinge, J., Ben-Shlomo, Y., Makrina, D., Gkatzima, O., Lupton, M., Koutroumani, M., Avramidou, D., Germanou, A., Jessen, F., Riedel-Heller, S., Dichgans, M., Heun, R., Kölsch, H., Schürmann, B., Herold, C., Lacour, A., Drichel, D., Hoffmann, P., Kornhuber, J., Gu, W., Feulner, T., Mayhaus, M., Pichler, S., Riemenschneider, M., van den Bussche, H., Lawlor, B., Lynch, A., Mann, D., Smith, A. D., Warden, D., Wilcock, G., Heuser, I., Wiltfang, J., Frölich, L., Hüll, M., Mayo, K., Livingston, G., Bass, N. J., Gurling, H., McQuillin, A., Gwilliam, R., Deloukas, P., Al-Chalabi, A., Shaw, C. E., Singleton, A. B., Guerreiro, R., Russo, G., Jöckel, K. H., Moebus, S., Klopp, N., Wichmann, H. E., Ma, L., Bisceglio, G., Fisher, E., Warner, N., Pickering-Brown, S., Craig, D., Johnston, J. A., McGuinness, B., Todd, S., Rubinsztein, D. C., Lovestone, S., Bayer, A., Gallacher, J., Proitsi, P. & Ortega-Cubero, S., Jan 1 2016, In: Molecular psychiatry. 21, 1, p. 108-117 10 p.

    Research output: Contribution to journalArticlepeer-review

    136 Scopus citations
  • A novel missense mutation of CMT2P alters transcription machinery

    Hu, B., Arpag, S., Zuchner, S. & Li, J., Dec 1 2016, In: Annals of neurology. 80, 6, p. 834-845 12 p.

    Research output: Contribution to journalArticlepeer-review

    16 Scopus citations
  • Assessing the association of mitochondrial genetic variation with primary open-angle glaucoma using gene-set analyses

    Khawaja, A. P., Cooke Bailey, J. N., Kang, J. H., Rand Allingham, R., Hauser, M. A., Brilliant, M., Budenz, D. L., Christen, W. G., Fingert, J., Gaasterland, D., Gaasterland, T., Kraft, P., Lee, R. K., Lichter, P. R., Liu, Y., Medeiros, F., Moroi, S. E., Richards, J. E., Realini, T., Ritch, R. & 13 others, Schuman, J. S., Scott, W. K., Singh, K., Sit, A. J., Vollrath, D., Wollstein, G., Zack, D. J., Zhang, K., Pericak-Vance, M., Weinreb, R. N., Haines, J. L., Pasquale, L. R. & Wiggs, J. L., Sep 2016, In: Investigative Ophthalmology and Visual Science. 57, 11, p. 5046-5052 7 p.

    Research output: Contribution to journalArticlepeer-review

    29 Scopus citations
  • Assessment of the genetic variance of late-onset Alzheimer's disease

    Alzheimer's Disease Genetics Consortium (ADGC), May 1 2016, In: Neurobiology of aging. 41, p. 200.e13-20

    Research output: Contribution to journalArticlepeer-review

    Open Access
    64 Scopus citations
  • Audiological findings in Noonan syndrome

    Tokgoz-Yilmaz, S., Turkyilmaz, M. D., Cengiz, F. B., Sjöstrand, A. P., Kose, S. K. & Tekin, M., Oct 1 2016, In: International Journal of Pediatric Otorhinolaryngology. 89, p. 50-54 5 p.

    Research output: Contribution to journalArticlepeer-review

  • C9orf72 promoter hypermethylation is reduced while hydroxymethylation is acquired during reprogramming of ALS patient cells

    Esanov, R., Belle, K. C., van Blitterswijk, M., Belzil, V. V., Rademakers, R., Dickson, D. W., Petrucelli, L., Boylan, K. B., Dykxhoorn, D. M., Wuu, J., Benatar, M., Wahlestedt, C. & Zeier, Z., Mar 1 2016, In: Experimental neurology. 277, p. 171-177 7 p.

    Research output: Contribution to journalArticlepeer-review

    15 Scopus citations
  • Characterizing the molecular phenotype of an: Atp7a T985I conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX)

    Perez-Siles, G., Grant, A., Ellis, M., Ly, C., Kidambi, A., Khalil, M., Llanos, R. M., Fontaine, S. L., Strickland, A. V., Züchner, S., Bermeo, S., Neist, E., Brennan-Speranza, T. C., Takata, R. I., Speck-Martins, C. E., Mercer, J. F. B., Nicholson, G. A. & Kennerson, M. L., Sep 2016, In: Metallomics. 8, 9, p. 981-992 12 p.

    Research output: Contribution to journalArticlepeer-review

    8 Scopus citations
  • 12 Scopus citations
  • Community genetics: Genetics boosts US-Cuban links

    Isasi, R., Zuchner, S. L. & Villafranca, R. C., Nov 16 2016, In: Nature. 539, 7629, p. 357 1 p.

    Research output: Contribution to journalLetterpeer-review

    1 Scopus citations
  • Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48)

    Hirst, J., Madeo, M., Smets, K., Edgar, J. R., Schols, L., Li, J., Yarrow, A., Deconinck, T., Baets, J., Van Aken, E., De Bleecker, J., Datiles, M. B., Roda, R. H., Liepert, J., Züchner, S., Mariotti, C., De Jonghe, P., Blackstone, C. & Kruer, M. C., 2016, In: Neurology: Genetics. 2, 5, e98.

    Research output: Contribution to journalArticlepeer-review

    20 Scopus citations
  • Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort

    Bademci, G., Foster, J., Mahdieh, N., Bonyadi, M., Duman, D., Cengiz, F. B., Menendez, I., Diaz-Horta, O., Shirkavand, A., Zeinali, S., Subasioglu, A., Tokgoz-Yilmaz, S., Huesca-Hernandez, F., De La Luz Arenas-Sordo, M., Dominguez-Aburto, J., Hernandez-Zamora, E., Montenegro, P., Paredes, R., Moreta, G., Vinueza, R. & 11 others, Villegas, F., Mendoza-Benitez, S., Guo, S., Bozan, N., Tos, T., Incesulu, A., Sennaroglu, G., Blanton, S. H., Ozturkmen-Akay, H., Yildirim-Baylan, M. & Tekin, M., Apr 1 2016, In: Genetics in Medicine. 18, 4, p. 364-371 8 p.

    Research output: Contribution to journalArticlepeer-review

    80 Scopus citations
  • Contactin-associated protein 1 (CNTNAP1) mutations induce characteristic lesions of the paranodal region

    Vallat, J. M., Nizon, M., Magee, A., Isidor, B., Magy, L., Péréon, Y., Richard, L., Ouvrier, R., Cogné, B., Devaux, J., Zuchner, S. & Mathis, S., Dec 1 2016, In: Journal of neuropathology and experimental neurology. 75, 12, p. 1155-1159 5 p.

    Research output: Contribution to journalArticlepeer-review

    19 Scopus citations