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by Ramoni, Rachel B and Mulvihill, John J and Adams, David R and Allard, Patrick and Ashley, Euan A and Bernstein, Jonathan A and Gahl, William A and Hamid, Rizwan and Loscalzo, Joseph and McCray, Alexa T and Shashi, Vandana and Tifft, Cynthia J and Adams, David R and Adams, Christopher J and Alejandro, Mercedes E and Allard, Patrick and Ashley, Euan A and Azamian, Mashid S and Bacino, Carlos A and Balasubramanyam, Ashok and Barseghyan, Hayk and Beggs, Alan H and Bellen, Hugo J and Bernick, David and Bernstein, Jonathan A and Bican, Anna and Bick, David P and Birch, Camille L and Boone, Braden E and Briere, Lauren C and Brown, Donna M and Brownstein, Catherine A and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Chao, Katherine R and Clark, Gary D and Cogan, Joy D and Cooper, Cynthia M and Craigen, William J and Davids, Mariska and Dayal, Jyoti G and Dell’Angelica, Esteban C and Dhar, Shweta U and Dipple, Katrina M and Donnell-Fink, Laurel A and Dorrani, Naghmeh and Dorset, Daniel C and Draper, David D and Dries, Annika M and Eastwood, Rachel and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Esteves, Cecilia and Estwick, Tyra and Fisher, Paul G and Frisby, Trevor S and Frost, Kate and Gahl, William A and Gartner, Valerie and Godfrey, Rena A and Goheen, Mitchell and Golas, Gretchen A and Goldstein, David B and Gordon, Mary “Gracie” G and Gould, Sarah E and Gourdine, Jean-Philippe F and Graham, Brett H and Groden, Catherine A and Gropman, Andrea L and Hackbarth, Mary E and Haendel, Melissa and Hamid, Rizwan and Hanchard, Neil A and Handley, Lori H and Hardee, Isabel and Herzog, Matthew R and Holm, Ingrid A and Howerton, Ellen M and Iglesias, Brenda and Jacob, Howard J and Jain, Mahim and Jiang, Yong-hui and Johnston, Jean M and Jones, Angela L and Koehler, Alanna E and Koeller, David M and Kohane, Isaac S and Kohler, Jennefer N and Krasnewich, Donna M and Krieg, Elizabeth L and Krier, Joel B and Kyle, Jennifer E and Lalani, Seema R and Latham, Lea and Latour, Yvonne L and Lau, C. Christopher and Lazar, Jozef and Lee, Brendan H and ... and Undiagnosed Diseases Network and Undiag Dis Network
American journal of human genetics, ISSN 0002-9297, 02/2017, Volume 100, Issue 2, pp. 185 - 192
Journal Article
Human molecular genetics, ISSN 0964-6906, 06/2020, Volume 29, Issue 9, pp. 1568 - 1579
Abstract The translocase of outer mitochondrial membrane (TOMM) complex is the entry gate for virtually all mitochondrial proteins and is essential to build... 
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Index Medicus
Journal Article
PLoS genetics, ISSN 1553-7390, 10/2020, Volume 16, Issue 10, pp. e1009156 - e1009156
[This corrects the article DOI: 10.1371/journal.pgen.1008841.]. 
Index Medicus
Journal Article
The Journal of experimental medicine, ISSN 0022-1007, 07/2020, Volume 217, Issue 7
Journal Article
Journal Article
PLoS genetics, ISSN 1553-7404, 06/2020, Volume 16, Issue 6, pp. e1008841 - e1008841
Journal Article
Genome medicine, ISSN 1756-994X, 08/2017, Volume 9, Issue 1, pp. 73 - 73
Journal Article
by Küry, S and Woerden, Geeske and Besnard, T and Proietti-Onori, Martina and Latypova, X and Towne, M.C and Cho, Megan T and Prescott, Trine and Ploeg, Melissa and Sanders, S and Stessman, H.A.F and Pujol, A and Distel, Ben and Robak, L.A and Bernstein, J.A and Denommé-Pichon, A.-S and Lesca, G and Sellars, E.A and Berg, J and Carré, W and Busk, ØL and Bon, Bregje and Waugh, J.L and Deardorff, Matthew and Hoganson, G.E and Bosanko, K.B and Johnson, D.S and Dabir, T and Holla, ØL and Sarkar, A and Tveten, K and de Bellescize, J and Braathen, G.J and Terhal, Paulien and Grange, D.K and Haeringen, Arie and Lam, C and Mirzaa, Ghayda and Burton, J and Bhoj, E.J and Douglas, J and Santani, A.B and Nesbitt, A.I and Helbig, K.L and Anews, M.V and Begtrup, A and Tang, S and van Gassen, Koen L.I and Juusola, J and Foss, K and Enns, Gregory and Moog, U and Hinderhofer, K and Paramasivam, N and Lincoln, S and Kusako, B.H and Lindenbaum, P and Charpentier, E and Nowak, C.B and Cherot, E and Simonet, T and Ruivenkamp, Claudia and Hahn, Sihoun and Brownstein, C.A and Xia, F and Schmitt, S and Deb, W and Bonneau, Dominique and Nizon, M and Quinquis, D and Chelly, Jamel and Rudolf, G and Sanlaville, Damien and Parent, P and Gilbert-Dussardier, B and Toutain, Annick and Sutton, V. Reid and Thies, J and Peart-Vissers, L.E.L.M and Boisseau, P and Vincent, M and Grabrucker, A.M and Dubourg, C and Tan, W.-H and Verbeek, Nienke and Granzow, M and Santen, Gijs and Shendure, Jay and Isidor, Bertrand and Pasquier, L and Redon, Richard and Yang, Y and State, Matthew and Kleefstra, Tjitske and Cogné, B and Petrovski, S and Retterer, Kyle and Eichler, Evan and Rosenfeld, Jill and Agrawal, P.B and ...
American journal of human genetics, ISSN 0002-9297, 11/2017, Volume 101, Issue 5, pp. 768 - 788
Calcium/calmodulin-dependent protein kinase II (CAMK2) is one of the first proteins shown to be essential for normal learning and synaptic plasticity in mice,... 
CAMK2B | CAMK2A | de novo mutations | CAMK2 | NMDAR | synaptic plasticity | AMPAR | intellectual disability | Life Sciences | Cancer
Journal Article