Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations

by Tripathy, R., Leca, I., Dijk, T. van, Weiss, J., Bon, B.W. van, Sergaki, M.C., Gstrein, T., Breuss, M., Tian, G.L., Bahi-Buisson, N., Paciorkowski, A.R., Pagnamenta, A.T., Wenninger-Weinzierl, A., Martinez-Reza, M.F., Landler, L., Lise, S., Taylor, J.C., Terrone, G., Vitiello, G., Giudice, E. del, Brunetti-Pierri, N., D'Amico, A., Reymond, A., Voisin, N., Bernstein, J.A., Farrelly, E., Kini, U., Leonard, T.A., Valence, S., Burglen, L., Armstrong, L., Hiatt, S.M., Cooper, G.M., Aldinger, K.A., Dobyns, W.B., Mirzaa, G., Pierson, T.M., Baas, F., Chelly, J., Cowan, N.J., Keays, D.A.
Published 2018

Reymond : a drama of the American revolution /

by Cronkhite, Henry McLean, 1834-
Published 1886

The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity

by Maillard, A M, Ruef, A, Pizzagalli, F, Migliavacca, E, Hippolyte, L, Adaszewski, S, Dukart, J, Ferrari, C, Conus, P, Männik, K, Zazhytska, M, Siffredi, V, Maeder, P, Kutalik, Z, Kherif, F, Hadjikhani, N, Beckmann, J S, Reymond, A, Draganski, B, Jacquemont, S
Published 2015

Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss

by Bassani, S., Beelen, E. van, Rossel, M., Voisin, N., Morgan, A., Arribat, Y., Chatron, N., Chrast, J., Cocca, M., Delprat, B., Faletra, F., Giannuzzi, G., Guex, N., Machavoine, R., Pradervand, S., Smits, J.J., Kamp, J.M. van de, Ziegler, A., Amati, F., Marlin, S., Kremer, H., Locher, H., Maurice, T., Gasparini, P., Girotto, G., Reymond, A.
Published 2021

Mendelian randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits

by Porcu, E., Rueger, S., Lepik, K., Agbessi, M., Ahsan, H., Alves, I., Andiappan, A., Arindrarto, W., Awadalla, P., Battle, A., Beutner, F., Bonder, M.J., Boomsma, D., Christiansen, M., Claringbould, A., Deelen, P., Esko, T., Fave, M.J., Franke, L., Frayling, T., Gharib, S.A., Gibson, G., Heijmans, B.T., Hemani, G., Jansen, R., Kahonen, M., Kalnapenkis, A., Kasela, S., Kettunen, J., Kim, Y., Kirsten, H., Kovacs, P., Krohn, K., Kronberg-Guzman, J., Kukushkina, V., Lee, B., Lehtimaki, T., Loeffler, M., Marigorta, U.M., Mei, H.L., Milani, L., Montgomery, G.W., Muller-Nurasyid, M., Nauck, M., Nivard, M., Penninx, B., Perola, M., Pervjakova, N., Pierce, B.L., Powell, J., Prokisch, H., Psaty, B.M., Raitakari, O.T., Ripatti, S., Rotzschke, O., Saha, A., Scholz, M., Schramm, K., Seppala, I., Slagboom, E.P., Stehouwer, C.D.A., Stumvoll, M., Sullivan, P., Hoen, P.A.C. 't, Teumer, A., Thiery, J., Tong, L., Tonjes, A., Dongen, J. van, Iterson, M. van, Meurs, J. van, Veldink, J.H., Verlouw, J., Visscher, P.M., Volker, U., Vosa, U., Westra, H.J., Wijmenga, C., Yaghootkar, H., Yang, J., Zeng, B., Zhang, F.T., Beekman, M., Boomsma, D.I., Bot, J., Deelen, J., Hofman, B.A., Hottenga, J.J., Isaacs, A., Jhamai, P.M., Kielbasa, S.M., Lakenberg, N., Luijk, R., Mei, H., Moed, M., Nooren, I., Pool, R., Schalkwijk, C.G., Slagboom, P.E., Suchiman, H.E.D., Swertz, M.A., Tigchelaar, E.F., Uitterlinden, A.G., Berg, L.H. van den, Breggen, R. van der, Kallen, C.J.H. van der, Dijk, F. van, Duijn, C.M. van, Galen, M. van, Greevenbroek, M.M.J. van, Heemst, D. van, Rooij, J. van, Van't Hof, P., Zwet, E.W. van, Vermaat, M., Verbiest, M., Verkerk, M., Zhernakova, D.V., Zhernakova, S., Santoni, F.A., Reymond, A., Kutalik, Z., eQTLGen Consortium, BIOS Consortium
Published 2019

The GENCODE human gene set

by Searle, S., Frankish, A., Bignell, A., Aken, B., Derrien, Thomas, Diekhans, M., Harte, R., Howald, C., Kokocinski, F., Lin, M., Tress, M., Van Baren, M., Barnes, I., Hunt, T., Carvalho-Silva, D., Davidson, C., Donaldson, S., Gilbert, J., Kay, M., Lloyd, D., Loveland, J., Mudge, J., Snow, C., Vamathevan, J., Wilming, L., Brent, M., Gerstein, Mark B., Guigo, Roderic, Kellis, Manolis, Reymond, A., Zadissa, A., Valencia, A., Harrow, J., Hubbard, T.
Published 2012

Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

by Loviglio, M N, Leleu, M, Männik, K, Passeggeri, M, Giannuzzi, G, van der Werf, I, Waszak, S M, Zazhytska, M, Roberts-Caldeira, I, Gheldof, N, Migliavacca, E, Alfaiz, A A, Hippolyte, L, Maillard, A M, Loviglio, Maria Nicla, Männik, Katrin, van der Werf, Ilse, Giannuzzi, Giuliana, Zazhytska, Marianna, Gheldof, Nele, Migliavacca, Eugenia, Alfaiz, Ali A, Roberts-Caldeira, Inês, Hippolyte, Loyse, Maillard, Anne M, Ferrarini, Alessandra, Butschi, Florence Niel, Conrad, Bernard, Addor, Marie-Claude, Belfiore, Marco, Roetzer, Katharina, Dijck, Anke Van, Blaumeiser, Bettina, Kooy, Frank, Roelens, Filip, Dheedene, Annelies, Chiaie, Barbara Delle, Menten, Björn, Oostra, Ann, Caberg, Jean-Hubert, Carter, Melissa, Kellam, Barbara, Stavropoulos, Dimitri J, Marshall, Christian, Scherer, Stephen W, Weksberg, Rosanna, Cytrynbaum, Cheryl, Bassett, Anne, Lowther, Chelsea, Gillis, Jane, MacKay, Sara, Bache, Iben, Ousager, Lilian B, Smerdel, Maja Patricia, Graakjaer, Jesper, Kjaergaard, Susanne, Metspalu, Andres, Mathieu, Michele, Bonneau, Dominique, Guichet, Agnes, Parent, Philippe, Férec, Claude, Gerard, Marion, Plessis, Ghislaine, Lespinasse, James, Masurel, Alice, Marle, Nathalie, Faivre, Laurence, Callier, Patrick, Layet, Valerie, Meur, Nathalie Le, Le Goff, Céline, Duban-Bedu, Bénédicte, Sukno, Sylvie, Boute, Odile, Andrieux, Joris, Blanchet, Patricia, Geneviève, David, Puechberty, Jacques, Schneider, Anouck, Leheup, Bruno, Jonveaux, Philippe, Mercier, Sandra, David, Albert, Le Caignec, Cédric, de Pontual, Loic, Pipiras, Eva, Jacquette, Aurelia, Keren, Boris, Gilbert-Dussardier, Brigitte, Bilan, Frederic, Goldenberg, Alice, Chambon, Pascal, Toutain, Annick, Till, Marianne, Sanlaville, Damien, Leube, Barbara, Royer-Pokora, Brigitte, Grabe, Hans Jörgen, Schmidt, Carsten Oliver, Schurmann, Claudia, Homuth, Georg, Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Bernardini, Laura, Novelli, Antonio, Micale, Lucia, Merla, Giuseppe, Zollino, Marcella, Mari, Francesca, Rizzo, Caterina Lo, Renieri, Alessandra, Silengo, Margherita, Vulto-van Silfhout, Anneke T, Schouten, Meyke, Pfundt, Rolph, de Leeuw, Nicole, Vansenne, Fleur, Maas, Saskia M, Barge-Schaapveld, Daniela QCM, Knegt, Alida C, Stadheim, Barbro, Rodningen, Olaug, Houge, Gunnar, Price, Sue, Hawkes, Lara, Campbell, Carolyn, Kini, Usha, Vogt, Julie, Walters, Robin, Blakemore, Alexandra, Gusella, James F, Shen, Yiping, Scott, Daryl, Bacino, Carlos A, Tsuchiya, Karen, Ladda, Roger, Sell, Susan, Asamoah, Alexander, Hamati, Aline I, Rosenfeld, Jill A, Shaffer, Lisa G, Mitchell, Elyse, Hodge, Jennelle C, Beckmann, Jacques S, Jacquemont, Sébastien, Reymond, Alexandre, Ewans, Lisa J, Mowat, David, Walker, Jan, Amor, David J, Esch, Hilde Van, Leroy, Patricia, Bamforth, John-Steven, Babu, Deepti, Isidor, Bertrand, DiDonato, Nataliya, Hackmann, Karl, Passeggeri, Marzia, Haeringen, Arie van, Smith, Rosemarie, Ellingwood, Sara, Farber, Darren M, Puri, Vinay, Zadeh, Neda, Weaver, David D, Miller, Mandy, Wilks, Timothy, Jorgez, Carolina J, Lafayette, DeeDee, Van Dijck, A, Kooy, R F, Sanlaville, D, Rosenfeld, J A, Shaffer, L G, Andrieux, J, Marshall, C, Scherer, S W, Shen, Y, Gusella, J F, Thorsteinsdottir, U, Thorleifsson, G, Dermitzakis, E T, Deplancke, B, Beckmann, J S, Rougemont, J, Jacquemont, S, Reymond, A
Published 2017

The genome sequence of taurine cattle: A window to ruminant biology and evolution

by Elsik, C.G., Worley, K.C., Gibbs, R.A., Muzny, D.M., Weinstock, G.M., Chacko, J., Chandrabose, M.M., Cree, A., Dao, M.D., Dinh, H.H., Gabisi, R.A., Hines, S., Hume, J., Jhangiani, S.N., Joshi, V., Kovar, C.L., Lewis, L.R., Liu, Y.-S., Lopez, J., Morgan, M.B., Nguyen, N.B., Okwuonu, G.O., Ruiz, S.J., Santibanez, J., Wright, R.A., Buhay, C., Ding, Y., Dugan-Rocha, S., Herdandez, J., Holder, M., Sabo, A., Egan, A., Goodell, J., Wilczek-Boney, K., Fowler, G.R., Hitchens, M.E., Lozado, R.J., Moen, C., Steffen, D., Warren, J.T., Zhang, J., Durbin, K.J., Havlak, P., Jiang, H., Liu, Y., Qin, X., Ren, Y.Song, H., Bell, S.N., Davis, C., Johnson, A.J., Lee, S., Nazareth, L.V., Patel, B.M., Pu, L.-L., Vattathil, S., Williams, Jr. R.L., Curry, S., Hamilton, C., Sodergren, E., Wheeler, D.A., Reese, J.T., Childers, C.P., Bennett, A.K., Hagen, D.E., Bahadue, S.M., Donohue, K.E., Jamis, C., Khalil, S.S., Lee, J.C.-M., Poslusny, N., Rosenwald, A., Shen, L., Urbanski, J.M., Anzola, J.M., Dickens, C.M., Salih, H., Gill, C.A., Abbey, C.A., Boldt, C.R., Chapin, J.E., Choi, J., Gladney, C.J., Muntean, C.T., Romero, N.E., Welsh, Jr. T.H., Wunderlich, K.R., Tellam, R.L., Dalrymple, B., Barris, W., McWilliam, S., Ratnakumar, A., Ingham, A., Sando, L., Lutzow, Y.S., Waardenberg, A.J., Adelson, D.L., Eichler, E.E., Chen, L., Cheng, Z., Elnitski, L., Yang, M.Q., Guigo, R., Alioto, T., Chappie, C.E., Camara, F., Hamernik, D.L., Kappes, S.M., Lewin, H.A., Schook, L., Donthu, R., Larkin, D.M., Biase, F.H., Kumar, C.G., Rodriguez-Zas, S.L., Lynn, D.J., Brinkman, F.S.L., Whiteside, M.D., Nicholas, F.W., Reymond, A., Chrast, J., Henrichsen, C.N., Rijnkels, M., Hadsell, D.L., Skow, L.C., Brinkmeyer-Larigford, C.L., Fritz, K., Nandakumar, H.P., Zdobnov, E.M., Antonarakis, S.E., Ucla, C., Wyss, C., Gerlach, D., Junier, T., Womack, J., Astashyn, A., Chen, H.-C., Ermolaeva, O., Hlavina, W., Kapustin, Y., Kiryutin, B., Kitts, P., Landrum, M., Maglott, D., Pruitt, K., Sapojnikov, V., Souvorov, A., Kokocinski, F., Searle, S.M., Gilbert, J.G.R., Harrow, J.L., Hart, E.A., Wilming, L.G., Solovyev, V., Elhaik, E., Graur, D., Edgar, R.C., McEwan, J.C., Payne, G.M., Raison, J.M., Kriventseva, E.V., Eyras, E., Plass, M., Reecy, J., Spurlock, D., Cheng, Y., Hu, Z.-L., Rachagani, S., Chitko-McKown, C.G., Bennett, G.L., Harhay, G.P., Keele, J.W., Smith, T., Snelling, W.M., Stone, R.T., Liu, G.E., Matukumalli, L.K., Sonstegard, T.S., Van, Tassell C.P., Song, J., Zhu, B., Bradley, D.G., Lau, L.P.L., Walker, A., Wheeler, T.T., Molenaar, A.J., Casey, T., Halgren, R., German, J.B., Lemay, D.G., Martin, W.F., Maqbool, N.J., Seo, S., Stothard, P., Guan, L., Moore, S.S., Taniguchi, M., Grant, J.R., Kolbehdari, D., Marques, E., Sherman, L., Wang, Z., Baldwin, C.L., Herzig, C.T.A., Baxter, R., Glass, E.J., Jann, O., Hastings, N., Jensen, K., Leach, R., Brown, W.C., Lahmers, K.K., Kerr, T., White, S.N., Connelley, T., Ellis, S.A., Livanainen, A., Iivanainen, A., Aerts, J., Caetano, A.R., DeCampos, T.A., De, Miranda Santos I.K.F., Martins, N.F., Garcia, J.F., Almeida, L.G., Cervelatti, E.P., Moreno, B.T., Pastor, R.C.P., Utsunomiya, Y.T., Riggs, P.K., Hiendleder, S.G., Fitzsimmons, C.J., Memili, E., Williams, J.L., Genini, S., Kapetis, D., Malinverni, R., Panzitta, F., Alexander, L., Roberts, A., Waterman, R.C., MacNeil, M.D., Brownstein, M.J., Holt, R.A., Jones, S.J.M., Marra, M.A., Moore, R., Chiu, R., Schein, J.E., Shen, Y., Eggen, A., Green, R.D., Hobbs, M., Tammen, I., Kent, M.P., Lien, S., McKay, S.D., Schnabel, R.D., Taylor, J.F., Green, J.A., Telugu, B.P.V.L., Sugimoto, Y., Takasuga, A., Abatepaulo, A.R.R., Anatriello, E., Carvalho, W.A., De, Oliveira C.J.F., Franzin, A.M., Garcia, G.R., Maruyama, S.R., More, D.D., Ahola, V., Iso-Touru, T., Amadio, A.F., Carroll, J.A., Chacko, E., Ranganathan, S., Colley, A.J., Pant, S.D., Verschoor, C.P., De, Donato M., Deobald, H., McLean, K.L., Schmutz, S.M., Devinoy, E., Dove, P., Razpet, A., Eberlein, A., WeiKard, R., Greaser, M.L., Hakimov, H.A., Hernandez, M., Khatib, H., Kumar, D., Li, C., Logan, K.M., Mazza, R., Medrano, J.F., Rincon, G., Nogueira, M.F.G., Olsaker, I., Poli, M.A., Rodriguez-Osorio, N., Southey, B.R., Sweedler, J.V., Ward, R., Yang, J., Zhao, F.-Q.
Published 2011