Defective Presynaptic Choline Transport Underlies Hereditary Motor Neuropathy by Barwick, Katy E.S., Wright, Jane, Al-Turki, Saeed, McEntagart, Meriel M., Nair, Ajith, Chioza, Barry, Al-Memar, Ali, Modarres, Hamid, Reilly, Mary M., Dick, Katherine J., Ruggiero, Alicia M., Blakely, Randy D., Hurles, Matt E., Crosby, Andrew H.

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Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel by Aharoni, Sharon, Barwick, Katy E S, Straussberg, Rachel, Harlalka, Gaurav V, Nevo, Yoram, Chioza, Barry A, McEntagart, Meriel M, Mimouni-Bloch, Aviva, Weedon, Michael, Crosby, Andrew H

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Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization by Wang, Haicui, Salter, Claire G, Refai, Osama, Hardy, Holly, Barwick, Katy E S, Akpulat, Ugur, Kvarnung, Malin, Chioza, Barry A, Harlalka, Gaurav, Taylan, Fulya, Sejersen, Thomas, Wright, Jane, Zimmerman, Holly H, Karakaya, Mert, Stüve, Burkhardt, Weis, Joachim, Schara, Ulrike, Russell, Mark A, Abdul-Rahman, Omar A, Chilton, John, Blakely, Randy D, Baple, Emma L, Cirak, Sebahattin, Crosby, Andrew H

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Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies by Salter, Claire G, Beijer, Danique, Hardy, Holly, Barwick, Katy E S, Bower, Matthew, Mademan, Ines, De Jonghe, Peter, Deconinck, Tine, Russell, Mark A, McEntagart, Meriel M, Chioza, Barry A, Blakely, Randy D, Chilton, John K, De Bleecker, Jan, Baets, Jonathan, Baple, Emma L, Walk, David, Crosby, Andrew H

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Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities by Steel, Dora, Zech, Michael, Zhao, Chen, Barwick, Katy E. S., Burke, Derek, Demailly, Diane, Kumar, Kishore R., Zorzi, Giovanna, Nardocci, Nardo, Kaiyrzhanov, Rauan, Wagner, Matias, Iuso, Arcangela, Berutti, Riccardo, Škorvánek, Matej, Necpál, Ján, Davis, Ryan, Wiethoff, Sarah, Mankad, Kshitij, Sudhakar, Sniya, Ferrini, Arianna, Sharma, Suvasini, Kamsteeg, Erik‐Jan, Tijssen, Marina A., Verschuuren, Corien, Egmond, Martje E., Flowers, Joanna M., McEntagart, Meriel, Tucci, Arianna, Coubes, Philippe, Bustos, Bernabe I., Gonzalez‐Latapi, Paulina, Tisch, Stephen, Darveniza, Paul, Gorman, Kathleen M., Peall, Kathryn J., Bötzel, Kai, Koch, Jan C., Kmieć, Tomasz, Plecko, Barbara, Boesch, Sylvia, Haslinger, Bernhard, Jech, Robert, Garavaglia, Barbara, Wood, Nick, Houlden, Henry, Gissen, Paul, Lubbe, Steven J., Sue, Carolyn M., Cif, Laura, Mencacci, Niccolò E., Anderson, Glenn, Kurian, Manju A., Winkelmann, Juliane

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TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila by Goodman, Lindsey D., Cope, Heidi, Nil, Zelha, Ravenscroft, Thomas A., Charng, Wu-Lin, Lu, Shenzhao, Tien, An-Chi, Pfundt, Rolph, Koolen, David A., Haaxma, Charlotte A., Veenstra-Knol, Hermine E., Wassink-Ruiter, Jolien S. Klein, Wevers, Marijke R., Jones, Melissa, Walsh, Laurence E., Klee, Victoria H., Theunis, Miel, Legius, Eric, Steel, Dora, Barwick, Katy E.S., Kurian, Manju A., Mohammad, Shekeeb S., Dale, Russell C., Terhal, Paulien A., van Binsbergen, Ellen, Kirmse, Brian, Robinette, Bethany, Cogné, Benjamin, Isidor, Bertrand, Grebe, Theresa A., Kulch, Peggy, Hainline, Bryan E., Sapp, Katherine, Morava, Eva, Klee, Eric W., Macke, Erica L., Trapane, Pamela, Spencer, Christopher, Si, Yue, Begtrup, Amber, Moulton, Matthew J., Dutta, Debdeep, Kanca, Oguz, Wangler, Michael F., Yamamoto, Shinya, Bellen, Hugo J., Tan, Queenie K.-G.

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Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy by Sullivan, Jeremy M, Motley, William W, Johnson, Janel O, Aisenberg, William H, Marshall, Katherine L, Barwick, Katy Es, Kong, Lingling, Huh, Jennifer S, Saavedra-Rivera, Pamela C, McEntagart, Meriel M, Marion, Marie-Helene, Hicklin, Lucy A, Modarres, Hamid, Baple, Emma L, Farah, Mohamed H, Zuberi, Aamir R, Lutz, Cathleen M, Gaudet, Rachelle, Traynor, Bryan J, Crosby, Andrew H, Sumner, Charlotte J

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Abstracts of the 52nd Workshop for Pediatric Research: Frankfurt, Germany. 27-28 October 2016 by Weil, Patrick P., Ziegenhals, Thomas, Juranek, Stefan, Gödde, Daniel, Vogel, Silvia, Schuster, Frauke, Dörner, Johannes, Pembaur, Daniel, Störkel, Stefan, Wirth, Stefan, Boy, Nikolas, Heringer, Jana, Haege, Gisela, Glahn, Esther M., Burgard, Peter, Kölker, Stefan, Shrestha, Amit, Ahmadvand, Negah, Kölker, Stefan, Prokisch, Holger, Hoffmann, Georg F., Seeliger, Stephan, Hippe, Andreas, Hofmann, Sigrun R., Rauh, Manfred, Metzler, Markus, Bandoła, Joanna, Richter, Cornelia, Ryser, Martin, Ashton, Michelle P., von Bonin, Malte, Hedrich, Christian M., Berner, Reinhard, Brenner, Sebastian, Stachel, Daniel, Kiritsi, Dimitra, Söder, Stephan, Metzler, Markus, Bohne, F., Eggermann, T., Zechner, U., Prawitt, D., Pech, Martin, Weckmann, Markus, Franke, Andre, Happle, Christine, Hansen, Gesine, Fuchs, Oliver, von Mutius, Erika, Oliver, Brian G., Paret, Claudia, Keller, Bettina, Lehmann, Nadine, Wingerter, Arthur, Aslihan, Gerhold-Ay, Wagner, Wolfgang, Seidmann, Larissa, Faber, Jörg, Schreiner, Felix, Ackermann, Merle, Racz, Ildiko, Lutz, Beat, Dötsch, Jörg, Zimmer, Andreas, Fischer, Hendrik S., Bührer, Christoph, Czernik, Christoph, Hofmann, Sigrun R., Hagenbuchner, Judith, Obexer, Petra, Ausserlechner, Michael J., Loges, Niki T., Frommer, Adrien Tobias, Öner-Sieben, Soner, Gimpfl, Martina, Beckers, Johannes, Roscher, Adelbert, Wolf, Eckhard, Ensenauer, Regina, Hasselblatt, Martin, Siebert, Reiner, Kordes, Uwe, Kool, Marcel, Hardy, Holly, Refai, Osama, Zimmerman, Holly H., Baple, Emma L., Standl, M., Thiering, E., Koletzko, B., Picard, Daniel, Frühwald, Michael C., Reifenberger, Guido, Hasselblatt, Martin, Wabitsch, M., Westhoff, Mike-Andrew, Langhans, Julia, Schneele, Lukas, Trenkler, Nancy, Debatin, Klaus-Michael

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KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation by Cif, Laura, Demailly, Diane, Lin, Jean-Pierre, Barwick, Katy E, Sa, Mario, Abela, Lucia, Malhotra, Sony, Chong, Wui K, Steel, Dora, Sanchis-Juan, Alba, Ngoh, Adeline, Trump, Natalie, Meyer, Esther, Vasques, Xavier, Rankin, Julia, Allain, Meredith W, Applegate, Carolyn D, Attaripour Isfahani, Sanaz, Baleine, Julien, Balint, Bettina, Bassetti, Jennifer A, Baple, Emma L, Bhatia, Kailash P, Blanchet, Catherine, Burglen, Lydie, Cambonie, Gilles, Seng, Emilie Chan, Bastaraud, Sandra Chantot, Cyprien, Fabienne, Coubes, Christine, d'Hardemare, Vincent, Doja, Asif, Dorison, Nathalie, Doummar, Diane, Dy-Hollins, Marisela E, Farrelly, Ellyn, Fitzpatrick, David R, Fearon, Conor, Fieg, Elizabeth L, Fogel, Brent L, Forman, Eva B, Fox, Rachel G, Gahl, William A, Galosi, Serena, Gonzalez, Victoria, Graves, Tracey D, Gregory, Allison, Hallett, Mark, Hasegawa, Harutomo, Hayflick, Susan J, Hamosh, Ada, Hully, Marie, Jansen, Sandra, Jeong, Suh Young, Krier, Joel B, Krystal, Sidney, Kumar, Kishore R, Laurencin, Chloé, Lee, Hane, Lesca, Gaetan, François, Laurence Lion, Lynch, Timothy, Mahant, Neil, Martinez-Agosto, Julian A, Milesi, Christophe, Mills, Kelly A, Mondain, Michel, Morales-Briceno, Hugo, Ostergaard, John R, Pal, Swasti, Pallais, Juan C, Pavillard, Frédérique, Perrigault, Pierre-Francois, Petersen, Andrea K, Polo, Gustavo, Poulen, Gaetan, Rinne, Tuula, Roujeau, Thomas, Rogers, Caleb, Roubertie, Agathe, Sahagian, Michelle, Schaefer, Elise, Selim, Laila, Selway, Richard, Sharma, Nutan, Signer, Rebecca, Soldatos, Ariane G, Stevenson, David A, Stewart, Fiona, Tchan, Michel, Verma, Ishwar C, de Vries, Bert B A, Wilson, Jenny L, Wong, Derek A, Zaitoun, Raghda, Zhen, Dolly, Znaczko, Anna, Dale, Russell C, de Gusmão, Claudio M, Friedman, Jennifer

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Loss-of-Function Variants in DRD1 in Infantile Parkinsonism-Dystonia by Reid, Kimberley M, Steel, Dora, Nair, Sanjana, Bhate, Sanjay, Biassoni, Lorenzo, Sudhakar, Sniya, Heys, Michelle, Burke, Elizabeth, Kamsteeg, Erik-Jan, Genomics England Research Consortium, Hameed, Biju, Zech, Michael, Mencacci, Niccolo E, Barwick, Katy, Topf, Maya, Kurian, Manju A

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Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals by Layo-Carris, Dana E, Lubin, Emily E, Sangree, Annabel K, Clark, Kelly J, Durham, Emily L, Gonzalez, Elizabeth M, Smith, Sarina, Angireddy, Rajesh, Wang, Xiao Min, Weiss, Erin, Toutain, Annick, Mendoza-Londono, Roberto, Dupuis, Lucie, Damseh, Nadirah, Velasco, Danita, Valenzuela, Irene, Codina-Solà, Marta, Ziats, Catherine, Have, Jaclyn, Clarkson, Katie, Steel, Dora, Kurian, Manju, Barwick, Katy, Carrasco, Diana, Dagli, Aditi I, Nowaczyk, M J M, Hančárová, Miroslava, Bendová, Šárka, Prchalova, Darina, Sedláček, Zdeněk, Baxová, Alica, Nowak, Catherine Bearce, Douglas, Jessica, Chung, Wendy K, Longo, Nicola, Platzer, Konrad, Klöckner, Chiara, Averdunk, Luisa, Wieczorek, Dagmar, Krey, Ilona, Zweier, Christiane, Reis, Andre, Balci, Tugce, Simon, Marleen, Kroes, Hester Y, Wiesener, Antje, Vasileiou, Georgia, Marinakis, Nikolaos M, Veltra, Danai, Sofocleous, Christalena, Kosma, Konstantina, Synodinos, Joanne Traeger, Voudris, Konstantinos A, Vuillaume, Marie-Laure, Gueguen, Paul, Derive, Nicolas, Colin, Estelle, Battault, Clarisse, Au, Billie, Delatycki, Martin, Wallis, Mathew, Gallacher, Lyndon, Majdoub, Fatma, Smal, Noor, Weckhuysen, Sarah, Schoonjans, An-Sofie, Kooy, R Frank, Meuwissen, Marije, Cocanougher, Benjamin T, Taylor, Kathryn, Pizoli, Carolyn E, McDonald, Marie T, James, Philip, Roeder, Elizabeth R, Littlejohn, Rebecca, Borja, Nicholas A, Thorson, Willa, King, Kristine, Stoeva, Radka, Suerink, Manon, Nibbeling, Esther, Baskin, Stephanie, Guyader, Gwenaël L E, Kaplan, Julie, Muss, Candace, Carere, Deanna Alexis, Bhoj, Elizabeth J K, Bryant, Laura M

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Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals by Layo-Carris, Dana E, Lubin, Emily E, Sangree, Annabel K, Clark, Kelly J, Durham, Emily L, Gonzalez, Elizabeth M, Smith, Sarina, Angireddy, Rajesh, Wang, Xiao Min, Weiss, Erin, Toutain, Annick, Mendoza-Londono, Roberto, Dupuis, Lucie, Damseh, Nadirah, Velasco, Danita, Valenzuela, Irene, Codina-Solà, Marta, Ziats, Catherine, Have, Jaclyn, Clarkson, Katie, Steel, Dora, Kurian, Manju, Barwick, Katy, Carrasco, Diana, Dagli, Aditi I, Nowaczyk, M J M, Hančárová, Miroslava, Bendová, Šárka, Prchalova, Darina, Sedláček, Zdeněk, Baxová, Alica, Nowak, Catherine Bearce, Douglas, Jessica, Chung, Wendy K, Longo, Nicola, Platzer, Konrad, Klöckner, Chiara, Averdunk, Luisa, Wieczorek, Dagmar, Krey, Ilona, Zweier, Christiane, Reis, Andre, Balci, Tugce, Simon, Marleen, Kroes, Hester Y, Wiesener, Antje, Vasileiou, Georgia, Marinakis, Nikolaos M, Veltra, Danai, Sofocleous, Christalena, Kosma, Konstantina, Traeger Synodinos, Joanne, Voudris, Konstantinos A, Vuillaume, Marie-Laure, Gueguen, Paul, Derive, Nicolas, Colin, Estelle, Battault, Clarisse, Au, Billie, Delatycki, Martin, Wallis, Mathew, Gallacher, Lyndon, Majdoub, Fatma, Smal, Noor, Weckhuysen, Sarah, Schoonjans, An-Sofie, Kooy, R Frank, Meuwissen, Marije, Cocanougher, Benjamin T, Taylor, Kathryn, Pizoli, Carolyn E, McDonald, Marie T, James, Philip, Roeder, Elizabeth R, Littlejohn, Rebecca, Borja, Nicholas A, Thorson, Willa, King, Kristine, Stoeva, Radka, Suerink, Manon, Nibbeling, Esther, Baskin, Stephanie, L E Guyader, Gwenaël, Kaplan, Julie, Muss, Candace, Carere, Deanna Alexis, Bhoj, Elizabeth J K, Bryant, Laura M

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MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia by Reid, Kimberley M., Spaull, Robert, Salian, Smrithi, Barwick, Katy, Meyer, Esther, Zhen, Juan, Hirata, Hiromi, Sheipouri, Diba, Benkerroum, Hind, Gorman, Kathleen M., Papandreou, Apostolos, Simpson, Michael A., Hirano, Yoshinobu, Farabella, Irene, Topf, Maya, Grozeva, Detelina, Carss, Keren, Smith, Martin, Pall, Hardev, Lunt, Peter, De Gressi, Susanna, Kamsteeg, Erik‐Jan, Haack, Tobias B., Carr, Lucinda, Guerreiro, Rita, Bras, Jose, Maher, Eamonn R., Scott, Richard H., Vandenberg, Robert J., Raymond, F. Lucy, Chong, Wui K., Sudhakar, Sniya, Mankad, Kshitij, Reith, Maarten E., Campeau, Philippe M., Harvey, Robert J., Kurian, Manju A.

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Mutations in KPTN Cause Macrocephaly, Neurodevelopmental Delay, and Seizures by Baple, Emma L., Maroofian, Reza, Chioza, Barry A., Izadi, Maryam, Cross, Harold E., Al-Turki, Saeed, Barwick, Katy, Skrzypiec, Anna, Pawlak, Robert, Wagner, Karin, Coblentz, Roselyn, Zainy, Tala, Patton, Michael A., Mansour, Sahar, Rich, Phillip, Qualmann, Britta, Hurles, Matt E., Kessels, Michael M., Crosby, Andrew H.

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Loss-of-Function Variants in IDRD1/I in Infantile Parkinsonism-Dystonia by Reid, Kimberley M, Steel, Dora, Nair, Sanjana, Bhate, Sanjay, Biassoni, Lorenzo, Sudhakar, Sniya, Heys, Michelle, Burke, Elizabeth, Kamsteeg, Erik-Jan, Hameed, Biju, Zech, Michael, Mencacci, Niccolo E, Barwick, Katy, Topf, Maya, Kurian, Manju A

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