Caspase-independent pathways of hair cell death induced by kanamycin in vivo von Jiang, H, Sha, S-H, Forge, A, Schacht, J

Volltext

Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy von Brodehl, Andreas, Ferrier, Raechel A., Hamilton, Sara J., Greenway, Steven C., Brundler, Marie-Anne, Yu, Weiming, Gibson, William T., McKinnon, Margaret L., McGillivray, Barbara, Alvarez, Nanette, Giuffre, Michael, Schwartzentruber, Jeremy, Gerull, Brenda

Volltext

Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway von Enns, Gregory M., Shashi, Vandana, Bainbridge, Matthew, Gambello, Michael J., Zahir, Farah R., Bast, Thomas, Crimian, Rebecca, Schoch, Kelly, Platt, Julia, Cox, Rachel, Bernstein, Jonathan A., Scavina, Mena, Walter, Rhonda S., Bibb, Audrey, Jones, Melanie, Hegde, Madhuri, Graham, Brett H., Need, Anna C., Oviedo, Angelica, Schaaf, Christian P., Boyle, Sean, Butte, Atul J., Chen, Rong, Clark, Michael J., Haraksingh, Rajini, Cowan, Tina M., He, Ping, Langlois, Sylvie, Zoghbi, Huda Y., Snyder, Michael, Gibbs, Richard A., Freeze, Hudson H., Goldstein, David B.

Volltext

Mutations in EZH2 Cause Weaver Syndrome von Gibson, William T., Hood, Rebecca L., Zhan, Shing Hei, Bulman, Dennis E., Fejes, Anthony P., Moore, Richard, Mungall, Andrew J., Eydoux, Patrice, Babul-Hirji, Riyana, An, Jianghong, Marra, Marco A., Chitayat, David, Boycott, Kym M., Weaver, David D., Jones, Steven J.M.

Volltext

Mutations in PIK3R1 Cause SHORT Syndrome von Dyment, David A., Smith, Amanda C., Alcantara, Diana, Schwartzentruber, Jeremy A., Basel-Vanagaite, Lina, Curry, Cynthia J., Temple, I. Karen, Reardon, William, Mansour, Sahar, Haq, Mushfequr R., Gilbert, Rodney, Lehmann, Ordan J., Vanstone, Megan R., Beaulieu, Chandree L., Majewski, Jacek, Bulman, Dennis E., O’Driscoll, Mark, Boycott, Kym M., Innes, A. Micheil

Volltext

A novel recurrent mutation in ATP1A3 causes CAPOS syndrome von Demos, Michelle K, van Karnebeek, Clara Dm, Ross, Colin Jd, Adam, Shelin, Shen, Yaoqing, Zhan, Shing Hei, Shyr, Casper, Horvath, Gabriella, Suri, Mohnish, Fryer, Alan, Jones, Steven Jm, Friedman, Jan M

Volltext

Two-photon resonant excitation of interatomic coulombic decay in neon dimers von Dubrouil, A, Reduzzi, M, Devetta, M, Feng, C, Hummert, J, Finetti, P, Plekan, O, Grazioli, C, Fraia, M Di, Lyamayev, V, Forge, A La, Katzy, R, Stienkemeier, F, Ovcharenko, Y, Coreno, M, Berrah, N, Motomura, K, Mondal, S, Ueda, K, Prince, K C, Callegari, C, Kuleff, A I, Demekhin, Ph V, Sansone, G

Volltext

De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome von Mirzaa, Ghayda M, Parry, David A, Fry, Andrew E, Giamanco, Kristin A, Schwartzentruber, Jeremy, Vanstone, Megan, Logan, Clare V, Roberts, Nicola, Johnson, Colin A, Singh, Shawn, Kholmanskikh, Stanislav S, Adams, Carissa, Hodge, Rebecca D, Hevner, Robert F, Bonthron, David T, Braun, Kees P J, Faivre, Laurence, Rivière, Jean-Baptiste, St-Onge, Judith, Gripp, Karen W, Mancini, Grazia M S, Pang, Ki, Sweeney, Elizabeth, van Esch, Hilde, Verbeek, Nienke, Wieczorek, Dagmar, Steinraths, Michelle, Majewski, Jacek, Boycott, Kym M, Pilz, Daniela T, Ross, M Elizabeth, Dobyns, William B, Sheridan, Eamonn G

Volltext

Responses of the bacterial and fungal biomass in a grassland soil to multi-year applications of dairy manure slurry and fertilizer von Bittman, S., Forge, T.A., Kowalenko, C.G.

Volltext

Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome von Bernier, Francois P., Caluseriu, Oana, Ng, Sarah, Schwartzentruber, Jeremy, Buckingham, Kati J., Innes, A. Micheil, Jabs, Ethylin Wang, Innis, Jeffrey W., Schuette, Jane L., Gorski, Jerome L., Byers, Peter H., Andelfinger, Gregor, Siu, Victoria, Lauzon, Julie, Fernandez, Bridget A., McMillin, Margaret, Scott, Richard H., Racher, Hilary, Majewski, Jacek, Nickerson, Deborah A., Shendure, Jay, Bamshad, Michael J., Parboosingh, Jillian S.

Volltext

Development of gap junctional intercellular communication within the lateral wall of the rat cochlea von Kelly, J.J, Forge, A, Jagger, D.J

Volltext

Mutations in DDHD2, Encoding an Intracellular Phospholipase A1, Cause a Recessive Form of Complex Hereditary Spastic Paraplegia von Schuurs-Hoeijmakers, Janneke H.M., Geraghty, Michael T., Kamsteeg, Erik-Jan, Ben-Salem, Salma, de Bot, Susanne T., Nijhof, Bonnie, van de Vondervoort, Ilse I.G.M., van der Graaf, Marinette, Nobau, Anna Castells, Otte-Höller, Irene, Vermeer, Sascha, Smith, Amanda C., Humphreys, Peter, Schwartzentruber, Jeremy, Ali, Bassam R., Al-Yahyaee, Saeed A., Tariq, Said, Pramathan, Thachillath, Bayoumi, Riad, Kremer, Hubertus P.H., van de Warrenburg, Bart P., van den Akker, Willem M.R., Gilissen, Christian, Veltman, Joris A., Janssen, Irene M., Vulto-van Silfhout, Anneke T., van der Velde-Visser, Saskia, Lefeber, Dirk J., Diekstra, Adinda, Erasmus, Corrie E., Willemsen, Michèl A., Vissers, Lisenka E.L.M., Lammens, Martin, van Bokhoven, Hans, Brunner, Han G., Wevers, Ron A., Schenck, Annette, Al-Gazali, Lihadh, de Vries, Bert B.A., de Brouwer, Arjan P.M.

Volltext

Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly von Lines, Matthew A., Huang, Lijia, Schwartzentruber, Jeremy, Douglas, Stuart L., Lynch, Danielle C., Beaulieu, Chandree, Guion-Almeida, Maria Leine, Zechi-Ceide, Roseli Maria, Gener, Blanca, Gillessen-Kaesbach, Gabriele, Nava, Caroline, Baujat, Geneviève, Horn, Denise, Kini, Usha, Caliebe, Almuth, Alanay, Yasemin, Utine, Gulen Eda, Lev, Dorit, Kohlhase, Jürgen, Grix, Arthur W., Lohmann, Dietmar R., Hehr, Ute, Böhm, Detlef, Majewski, Jacek, Bulman, Dennis E., Wieczorek, Dagmar, Boycott, Kym M.

Volltext

Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm von Chetaille, Philippe, Preuss, Christoph, Burkhard, Silja, Côté, Jean-Marc, Houde, Christine, Castilloux, Julie, Piché, Jessica, Gosset, Natacha, Leclerc, Séverine, Wünnemann, Florian, Thibeault, Maryse, Gagnon, Carmen, Galli, Antonella, Tuck, Elizabeth, Hickson, Gilles R, Amine, Nour El, Boufaied, Ines, Lemyre, Emmanuelle, de Santa Barbara, Pascal, Faure, Sandrine, Jonzon, Anders, Cameron, Michel, Dietz, Harry C, Gallo-McFarlane, Elena, Benson, D Woodrow, Moreau, Claudia, Labuda, Damian, Zhan, Shing H, Shen, Yaoqing, Jomphe, Michèle, Jones, Steven J M, Bakkers, Jeroen, Andelfinger, Gregor

Volltext

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes von Rivière, Jean-Baptiste, Mirzaa, Ghayda M, O'Roak, Brian J, Beddaoui, Margaret, Alcantara, Diana, Conway, Robert L, St-Onge, Judith, Schwartzentruber, Jeremy A, Gripp, Karen W, Nikkel, Sarah M, Worthylake, Thea, Sullivan, Christopher T, Ward, Thomas R, Butler, Hailly E, Kramer, Nancy A, Albrecht, Beate, Armour, Christine M, Armstrong, Linlea, Caluseriu, Oana, Cytrynbaum, Cheryl, Drolet, Beth A, Innes, A Micheil, Lauzon, Julie L, Lin, Angela E, Mancini, Grazia M S, Meschino, Wendy S, Reggin, James D, Saggar, Anand K, Lerman-Sagie, Tally, Uyanik, Gökhan, Weksberg, Rosanna, Zirn, Birgit, Beaulieu, Chandree L, Majewski, Jacek, Bulman, Dennis E, O'Driscoll, Mark, Shendure, Jay, Graham, John M, Boycott, Kym M, Dobyns, William B

Volltext

Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome von Hood, Rebecca L., Lines, Matthew A., Nikkel, Sarah M., Schwartzentruber, Jeremy, Beaulieu, Chandree, Nowaczyk, Małgorzata J.M., Allanson, Judith, Kim, Chong Ae, Wieczorek, Dagmar, Moilanen, Jukka S., Lacombe, Didier, Gillessen-Kaesbach, Gabriele, Whiteford, Margo L., Quaio, Caio Robledo D.C., Gomy, Israel, Bertola, Debora R., Albrecht, Beate, Platzer, Konrad, McGillivray, George, Zou, Ruobing, McLeod, D. Ross, Chudley, Albert E., Chodirker, Bernard N., Marcadier, Janet, Majewski, Jacek, Bulman, Dennis E., White, Susan M., Boycott, Kym M.

Volltext

Cochlear implantation in the mouse via the round window: Effects of array insertion von Mistry, N., Nolan, L.S., Saeed, S.R., Forge, A., Taylor, R.R.

Volltext

Inner ear tissue preservation by rapid freezing: Improving fixation by high-pressure freezing and hybrid methods von Bullen, A., Taylor, R.R., Kachar, B., Moores, C., Fleck, R.A., Forge, A.

Volltext

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care von Sawyer, S.L., Hartley, T., Dyment, D.A., Beaulieu, C.L., Schwartzentruber, J., Smith, A., Bedford, H.M., Bernard, G., Bernier, F.P., Brais, B., Bulman, D.E., Warman Chardon, J., Chitayat, D., Deladoëy, J., Fernandez, B.A., Frosk, P., Geraghty, M.T., Gerull, B., Gibson, W., Gow, R.M., Graham, G.E., Green, J.S., Heon, E., Horvath, G., Innes, A.M., Jabado, N., Kim, R.H., Koenekoop, R.K., Khan, A., Lehmann, O.J., Mendoza-Londono, R., Michaud, J.L., Nikkel, S.M., Penney, L.S., Polychronakos, C., Richer, J., Rouleau, G.A., Samuels, M.E., Siu, V.M., Suchowersky, O., Tarnopolsky, M.A., Yoon, G., Zahir, F.R., Majewski, J., Boycott, K.M.

Volltext

Mutations in ILK, encoding integrin-linked kinase, are associated with arrhythmogenic cardiomyopathy von Brodehl, Andreas, Rezazadeh, Saman, Williams, Tatjana, Munsie, Nicole M., Liedtke, Daniel, Oh, Tracey, Ferrier, Raechel, Shen, Yaoqing, Jones, Steven J.M., Stiegler, Amy L., Boggon, Titus J., Duff, Henry J., Friedman, Jan M., Gibson, William T., Childs, Sarah J., Gerull, Brenda

Volltext