Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation von Bhat, Shreyas, Rousseau, Justine, Michaud, Coralie, Lourenço, Charles Marques, Stoler, Joan M., Louie, Raymond J., Clarkson, Lola K., Lichty, Angie, Koboldt, Daniel C., Reshmi, Shalini C., Sisodiya, Sanjay M., Hoytema van Konijnenburg, Eva M.M., Koop, Klaas, van Hasselt, Peter M., Démurger, Florence, Dubourg, Christèle, Sullivan, Bonnie R., Hughes, Susan S., Thiffault, Isabelle, Tremblay, Elisabeth Simard, Accogli, Andrea, Srour, Myriam, Blunck, Rikard, Campeau, Philippe M.

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Second patient with GNB2-related neurodevelopmental disease: Further evidence for a gene-disease association von Lansdon, Lisa A., Fleming, Emily A., Del Viso, Florencia, Sullivan, Bonnie R., Saunders, Carol J.

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Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine von Faundes, Víctor, Jennings, Martin D., Crilly, Siobhan, Legraie, Sarah, Withers, Sarah E., Cuvertino, Sara, Davies, Sally J., Douglas, Andrew G. L., Fry, Andrew E., Harrison, Victoria, Amiel, Jeanne, Lehalle, Daphné, Newman, William G., Newkirk, Patricia, Ranells, Judith, Splitt, Miranda, Cross, Laura A., Saunders, Carol J., Sullivan, Bonnie R., Granadillo, Jorge L., Gordon, Christopher T., Kasher, Paul R., Pavitt, Graham D., Banka, Siddharth

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MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway von Gong, Maolei, Li, Jiayi, Qin, Zailong, Machado Bressan Wilke, Matheus Vernet, Liu, Yijun, Li, Qian, Liu, Haoran, Liang, Chen, Morales-Rosado, Joel A., Cohen, Ana S.A., Hughes, Susan S., Sullivan, Bonnie R., Waddell, Valerie, van den Boogaard, Marie-José H., van Jaarsveld, Richard H., van Binsbergen, Ellen, van Gassen, Koen L., Wang, Tianyun, Hiatt, Susan M., Amaral, Michelle D., Kelley, Whitley V., Zhao, Jianbo, Feng, Weixing, Ren, Changhong, Yu, Yazhen, Boczek, Nicole J., Ferber, Matthew J., Lahner, Carrie, Elliott, Sherr, Ruan, Yiyan, Mignot, Cyril, Keren, Boris, Xie, Hua, Wang, Xiaoyan, Popp, Bernt, Zweier, Christiane, Piard, Juliette, Coubes, Christine, Mau-Them, Frederic Tran, Safraou, Hana, Innes, A. Micheil, Gauthier, Julie, Michaud, Jacques L., Koboldt, Daniel C., Sylvie, Odent, Willems, Marjolaine, Tan, Wen-Hann, Cogne, Benjamin, Rieubland, Claudine, Braun, Dominique, McLean, Scott Douglas, Platzer, Konrad, Zacher, Pia, Oppermann, Henry, Evenepoel, Lucie, Blanc, Pierre, El Khattabi, Laïla, Haque, Neshatul, Dsouza, Nikita R., Zimmermann, Michael T., Urrutia, Raul, Klee, Eric W., Shen, Yiping, Du, Hongzhen, Rappaport, Leonard, Liu, Chang-Mei, Chen, Xiaoli

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Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes von Cohen, Ana S.A., Farrow, Emily G., Abdelmoity, Ahmed T., Alaimo, Joseph T., Amudhavalli, Shivarajan M., Anderson, John T., Bansal, Lalit, Bartik, Lauren, Baybayan, Primo, Belden, Bradley, Berrios, Courtney D., Biswell, Rebecca L., Buczkowicz, Pawel, Buske, Orion, Chakraborty, Shreyasee, Cheung, Warren A., Coffman, Keith A., Cooper, Ashley M., Cross, Laura A., Curran, Tom, Dang, Thuy Tien T., Elfrink, Mary M., Engleman, Kendra L., Fecske, Erin D., Fieser, Cynthia, Fitzgerald, Keely, Fleming, Emily A., Gadea, Randi N., Gannon, Jennifer L., Gelineau-Morel, Rose N., Gibson, Margaret, Goldstein, Jeffrey, Grundberg, Elin, Halpin, Kelsee, Harvey, Brian S., Heese, Bryce A., Hein, Wendy, Herd, Suzanne M., Hughes, Susan S., Ilyas, Mohammed, Jacobson, Jill, Jenkins, Janda L., Jiang, Shao, Johnston, Jeffrey J., Keeler, Kathryn, Korlach, Jonas, Kussmann, Jennifer, Lambert, Christine, Lawson, Caitlin, Le Pichon, Jean-Baptiste, Leeder, James Steven, Little, Vicki C., Louiselle, Daniel A., Lypka, Michael, McDonald, Brittany D., Miller, Neil, Modrcin, Ann, Nair, Annapoorna, Neal, Shelby H., Oermann, Christopher M., Pacicca, Donna M., Pawar, Kailash, Posey, Nyshele L., Price, Nigel, Puckett, Laura M.B., Quezada, Julio F., Raje, Nikita, Rowell, William J., Rush, Eric T., Sampath, Venkatesh, Saunders, Carol J., Schwager, Caitlin, Schwend, Richard M., Shaffer, Elizabeth, Smail, Craig, Soden, Sarah, Strenk, Meghan E., Sullivan, Bonnie R., Sweeney, Brooke R., Tam-Williams, Jade B., Walter, Adam M., Welsh, Holly, Wenger, Aaron M., Willig, Laurel K., Yan, Yun, Younger, Scott T., Zhou, Dihong, Zion, Tricia N., Thiffault, Isabelle, Pastinen, Tomi

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POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies von Smallwood, Kelly, Watt, Kristin E.N., Ide, Satoru, Baltrunaite, Kristina, Brunswick, Chad, Inskeep, Katherine, Capannari, Corrine, Adam, Margaret P., Begtrup, Amber, Bertola, Debora R., Demmer, Laurie, Demo, Erin, Devinsky, Orrin, Gallagher, Emily R., Guillen Sacoto, Maria J., Jech, Robert, Keren, Boris, Kussmann, Jennifer, Ladda, Roger, Lansdon, Lisa A., Lunke, Sebastian, Mardy, Anne, McWalters, Kirsty, Person, Richard, Raiti, Laura, Saitoh, Noriko, Saunders, Carol J., Schnur, Rhonda, Skorvanek, Matej, Sell, Susan L., Slavotinek, Anne, Sullivan, Bonnie R., Stark, Zornitza, Symonds, Joseph D., Wenger, Tara, Weber, Sacha, Whalen, Sandra, White, Susan M., Winkelmann, Juliane, Zech, Michael, Zeidler, Shimriet, Maeshima, Kazuhiro, Stottmann, Rolf W., Trainor, Paul A., Weaver, K. Nicole

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Robin sequence without cleft palate: Genetic diagnoses and management implications von Weaver, K. Nicole, Sullivan, Bonnie R., Balow, Stephanie A., Hopkin, Sara, Chini, Barbara A., Pan, Brian S., Stottmann, Rolf W., Bender, Patricia L., Hopkin, Robert J., Zhang, Xue, Saal, Howard M.

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Insurance denials and diagnostic rates in a pediatric genomic research cohort von Zion, Tricia N., Berrios, Courtney D., Cohen, Ana S.A., Bartik, Lauren, Cross, Laura A., Engleman, Kendra L., Fleming, Emily A., Gadea, Randi N., Hughes, Susan S., Jenkins, Janda L., Kussmann, Jennifer, Lawson, Caitlin, Schwager, Caitlin, Strenk, Meghan E., Welsh, Holly, Rush, Eric T., Amudhavalli, Shivarajan M., Sullivan, Bonnie R., Zhou, Dihong, Gannon, Jennifer L., Heese, Bryce A., Moore, Riley, Boillat, Emelia, Biswell, Rebecca L., Louiselle, Daniel A., Puckett, Laura M.B., Beyer, Shanna, Neal, Shelby H., Sierant, Victoria, McBeth, Macy, Belden, Bradley, Walter, Adam M., Gibson, Margaret, Cheung, Warren A., Johnston, Jeffrey J., Thiffault, Isabelle, Farrow, Emily G., Grundberg, Elin, Pastinen, Tomi

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Motivational, proteostatic and transcriptional deficits precede synapse loss, gliosis and neurodegeneration in the B6.HttQ111/+ model of Huntington’s disease von Bragg, Robert M., Coffey, Sydney R., Weston, Rory M., Ament, Seth A., Cantle, Jeffrey P., Minnig, Shawn, Funk, Cory C., Shuttleworth, Dominic D., Woods, Emily L., Sullivan, Bonnie R., Jones, Lindsey, Glickenhaus, Anne, Anderson, John S., Anderson, Michael D., Dunnett, Stephen B., Wheeler, Vanessa C., MacDonald, Marcy E., Brooks, Simon P., Price, Nathan D., Carroll, Jeffrey B.

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Whole exome sequencing reveals EP300 mutation in mildly affected female: expansion of the spectrum von Sellars, Elizabeth A., Sullivan, Bonnie R., Schaefer, G. Bradley

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Whole exome sequencing reveals EP 300 mutation in mildly affected female: expansion of the spectrum von Sellars, Elizabeth A., Sullivan, Bonnie R., Schaefer, G. Bradley

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Corrigendum: Motivational, proteostatic and transcriptional deficits precede synapse loss, gliosis and neurodegeneration in the B6.HttQ111/+ model of Huntington's disease von Bragg, Robert M, Coffey, Sydney R, Weston, Rory M, Ament, Seth A, Cantle, Jeffrey P, Minnig, Shawn, Funk, Cory C, Shuttleworth, Dominic D, Woods, Emily L, Sullivan, Bonnie R, Jones, Lindsey, Glickenhaus, Anne, Anderson, John S, Anderson, Michael D, Dunnett, Stephen B, Wheeler, Vanessa C, Macdonald, Marcy E, Brooks, Simon P, Price, Nathan D, Carroll, Jeffrey B

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De novo variants in KCNA3 cause developmental and epileptic encephalopathy von Soldovieri, Maria Virginia, Ambrosino, Paolo, Mosca, Ilaria, Servettini, Ilenio, Pietrunti, Francesca, Belperio, Giorgio, Syrbe, Steffen, Taglialatela, Maurizio, Lemke, Johannes R

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Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype von Hiatt, Susan M., Trajkova, Slavica, Sebastiano, Matteo Rossi, Partridge, E. Christopher, Abidi, Fatima E., Anderson, Ashlyn, Ansar, Muhammad, Antonarakis, Stylianos E., Azadi, Azadeh, Bachmann-Gagescu, Ruxandra, Bartuli, Andrea, Benech, Caroline, Berkowitz, Jennifer L., Betti, Michael J., Brusco, Alfredo, Cannon, Ashley, Caron, Giulia, Chen, Yanmin, Cochran, Meagan E., Coleman, Tanner F., Crenshaw, Molly M., Cuisset, Laurence, Curry, Cynthia J., Darvish, Hossein, Demirdas, Serwet, Descartes, Maria, Douglas, Jessica, Dyment, David A., Elloumi, Houda Zghal, Ermondi, Giuseppe, Faoucher, Marie, Farrow, Emily G., Felker, Stephanie A., Fisher, Heather, Hurst, Anna C.E., Joset, Pascal, Kelly, Melissa A., Kmoch, Stanislav, Leadem, Benjamin R., Lyons, Michael J., Macchiaiolo, Marina, Magner, Martin, Mandrile, Giorgia, Mattioli, Francesca, McEown, Megan, Meadows, Sarah K., Medne, Livija, Meeks, Naomi J.L., Montgomery, Sarah, Napier, Melanie P., Natowicz, Marvin, Newberry, Kimberly M., Niceta, Marcello, Noskova, Lenka, Nowak, Catherine B., Noyes, Amanda G., Osmond, Matthew, Prijoles, Eloise J., Pugh, Jada, Pullano, Verdiana, Quélin, Chloé, Rahimi-Aliabadi, Simin, Rauch, Anita, Redon, Sylvia, Reymond, Alexandre, Schwager, Caitlin R., Sellars, Elizabeth A., Scheuerle, Angela E., Shukarova-Angelovska, Elena, Skraban, Cara, Stolerman, Elliot, Sullivan, Bonnie R., Tartaglia, Marco, Thiffault, Isabelle, Uguen, Kevin, Umaña, Luis A., van Bever, Yolande, van der Crabben, Saskia N., van Slegtenhorst, Marjon A., Waisfisz, Quinten, Washington, Camerun, Rodan, Lance H., Myers, Richard M., Cooper, Gregory M.

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Correction: Corrigendum: Motivational, proteostatic and transcriptional deficits precede synapse loss, gliosis and neurodegeneration in the B6.HttQ111/+ model of Huntington’s disea... von Bragg, Robert M., Coffey, Sydney R., Weston, Rory M., Ament, Seth A., Cantle, Jeffrey P., Minnig, Shawn, Funk, Cory C., Shuttleworth, Dominic D., Woods, Emily L., Sullivan, Bonnie R., Jones, Lindsey, Glickenhaus, Anne, Anderson, John S., Anderson, Michael D., Dunnett, Stephen B., Wheeler, Vanessa C., MacDonald, Marcy E., Brooks, Simon P., Price, Nathan D., Carroll, Jeffrey B.

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Corrigendum: Motivational, proteostatic and transcriptional deficits precede synapse loss, gliosis and neurodegeneration in the B6.Htt Q111/+ model of Huntington's disease von Bragg, Robert M, Coffey, Sydney R, Weston, Rory M, Ament, Seth A, Cantle, Jeffrey P, Minnig, Shawn, Funk, Cory C, Shuttleworth, Dominic D, Woods, Emily L, Sullivan, Bonnie R, Jones, Lindsey, Glickenhaus, Anne, Anderson, John S, Anderson, Michael D, Dunnett, Stephen B, Wheeler, Vanessa C, MacDonald, Marcy E, Brooks, Simon P, Price, Nathan D, Carroll, Jeffrey B

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Motivational, proteostatic and transcriptional deficits precede synapse loss, gliosis and neurodegeneration in the B6.Htt Q111/+ model of Huntington's disease von Bragg, Robert M, Coffey, Sydney R, Weston, Rory M, Ament, Seth A, Cantle, Jeffrey P, Minnig, Shawn, Funk, Cory C, Shuttleworth, Dominic D, Woods, Emily L, Sullivan, Bonnie R, Jones, Lindsey, Glickenhaus, Anne, Anderson, John S, Anderson, Michael D, Dunnett, Stephen B, Wheeler, Vanessa C, MacDonald, Marcy E, Brooks, Simon P, Price, Nathan D, Carroll, Jeffrey B

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Whole exome sequencing reveals EP300 mutation in mildly affected female: expansion of the spectrum von Sellars, Elizabeth A, Sullivan, Bonnie R, Schaefer, G Bradley

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Motivational, proteostatic and transcriptional deficits precede synapse loss, gliosis and neurodegeneration in the B6.HttQ111/+ model of Huntington’s disease von Bragg, Robert M, Coffey, Sydney R, Weston, Rory M, Ament, Seth A, Cantle, Jeffrey P, Minnig, Shawn, Funk, Cory C, Shuttleworth, Dominic D, Woods, Emily L, Sullivan, Bonnie R, Jones, Lindsey, Glickenhaus, Anne, Anderson, John S, Anderson, Michael D, Dunnett, Stephen B, Wheeler, Vanessa C, MacDonald, Marcy E, Brooks, Simon P, Price, Nathan D, Carroll, Jeffrey B

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Seasonal time bombs: dominant temperate viruses affect Southern Ocean microbial dynamics von Brum, Jennifer R, Hurwitz, Bonnie L, Schofield, Oscar, Ducklow, Hugh W, Sullivan, Matthew B

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