Erratum to: The L450P mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together von Duarri, A., Nibbeling, E., Fokkens, M. R., Meijer, M., Boddeke, E., Lagrange, E., Stevanin, G., Brice, A., Durr, A., Verbeek, D. S.

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Erratum to: The L450F [Corrected] mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together von Duarri, A, Nibbeling, E, Fokkens, M R, Meijer, M, Boddeke, E, Lagrange, E, Stevanin, G, Brice, A, Durr, A, Verbeek, D S

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Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes von Levitin, M.O., Rawlins, L.E., Sanchez-Andrade, G., Arshad, O.A., Collins, S.C., Sawiak, S.J., Iffland, P.H. .I.I., Andersson, M.H.L., Bupp, C., Cambridge, E.L., Coomber, E.L., Ellis, I., Herkert, J.C., Ironfield, H., Jory, L., Kretz, P.F., Kant, S.G., Neaverson, A., Nibbeling, E., Rowley, C., Relton, E., Sanderson, M., Scott, E.M., Stewart, H., Shuen, A.Y., Schreiber, J., Tuck, L., Tonks, J., Terkelsen, T., Ravenswaaij-Arts, C. van, Vasudevan, P., Wenger, O., Wright, M., Day, A., Hunter, A., Patel, M., Lelliott, C.J., Crino, P.B., Yalcin, B., Crosby, A.H., Baple, E.L., Logan, D.W., Hurles, M.E., Gerety, S.S.

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O60 – 1707 Ataxia and areflexia precede progressive myoclonus ataxia in young children with GOSR2 mutation von van Egmond, ME, Verschuuren-Bemelmans, CC, Nibbeling, EA, Elting, JW, Sival, DA, Brouwer, OF, de Vries, JJ, Kremer, HP, Sinke, RJ, Tijssen, MA, de Koning, TJ

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KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants (vol 21, 10.1038/s41436-018-0259-2, 2019) von Kennedy, J., Goudie, D., Blair, E., Chandler, K., Joss, S., McKay, V., Green, A., Armstrong, R., Lees, M., Kamien, B., Hopper, B., Tan, T.Y., Yap, P., Stark, Z., Okamoto, N., Miyake, N., Matsumoto, N., Macnamara, E., Murphy, J.L., McCormick, E., Hakonarson, H., Falk, M.J., Li, D., Blackburn, P., Klee, E., Babovic-Vuksanovic, D., Schelley, S., Hudgins, L., Kant, S., Isidor, B., Cogne, B., Bradbury, K., Williams, M., Patel, C., Heussler, H., Duff-Farrier, C., Lakeman, P., Scurr, I., Kini, U., Elting, M., Reijnders, M., Schuurs-Hoeijmakers, J., Wafik, M., Blomhoff, A., Ruivenkamp, C.A.L., Nibbeling, E., Dingemans, A.J.M., Douine, E.D., Nelson, S.F., Hempel, M., Bierhals, T., Lessel, D., Johannsen, J., Arboleda, V.A., Newbury-Ecob, R.

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From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care von de Koning, Maayke A., Haak, Monique C., Adama van Scheltema, Phebe N., Peeters-Scholte, Cacha M. P. C. D., Koopmann, Tamara T., Nibbeling, Esther A. R., Aten, Emmelien, den Hollander, Nicolette S., Ruivenkamp, Claudia A. L., Hoffer, Mariëtte J. V., Santen, Gijs W. E.

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Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context von van Slobbe, Michelle, van Haeringen, Arie, Vissers, Lisenka E. L. M., Bijlsma, Emilia K., Rutten, Julie W., Suerink, Manon, Nibbeling, Esther A. R., Ruivenkamp, Claudia A. L., Koene, Saskia

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Diagnostic Value of a Protocolized In-Depth Evaluation of Pediatric Bone Marrow Failure: A Multi-Center Prospective Cohort Study von Atmar, Khaled, Ruivenkamp, Claudia A L, Hooimeijer, Louise, Nibbeling, Esther A R, Eckhardt, Corien L, Huisman, Elise J, Lankester, Arjan C, Bartels, Marije, Santen, Gijs W E, Smiers, Frans J, van der Burg, Mirjam, Mohseny, Alexander B

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The persistence of a broad range of antibiotics during calve, pig and broiler manure storage von Berendsen, B.J.A., Lahr, J., Nibbeling, C., Jansen, L.J.M., Bongers, I.E.A., Wipfler, E.L., van de Schans, M.G.M.

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Prenatal exome sequencing: A useful tool for the fetal neurologist von Koning, Maayke A., Hoffer, Mariëtte J. V., Nibbeling, Esther A. R., Bijlsma, Emilia K., Toirkens, Menno J. P., Adama‐Scheltema, Phebe N., Verweij, E. Joanne, Veenhof, Marieke B., Santen, Gijs W. E., Peeters‐Scholte, Cacha M. P. C. D.

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Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals von Bosch, Elisabeth, Popp, Bernt, Güse, Esther, Skinner, Cindy, van der Sluijs, Pleuntje J., Maystadt, Isabelle, Pinto, Anna Maria, Renieri, Alessandra, Bruno, Lucia Pia, Granata, Stefania, Marcelis, Carlo, Baysal, Özlem, Hartwich, Dewi, Holthöfer, Laura, Isidor, Bertrand, Cogne, Benjamin, Wieczorek, Dagmar, Capra, Valeria, Scala, Marcello, De Marco, Patrizia, Ognibene, Marzia, Jamra, Rami Abou, Platzer, Konrad, Carter, Lauren B., Kuismin, Outi, van Haeringen, Arie, Maroofian, Reza, Valenzuela, Irene, Cuscó, Ivon, Martinez-Agosto, Julian A., Rabani, Ahna M., Mefford, Heather C., Pereira, Elaine M., Close, Charlotte, Anyane-Yeboa, Kwame, Wagner, Mallory, Hannibal, Mark C., Zacher, Pia, Thiffault, Isabelle, Beunders, Gea, Umair, Muhammad, Bhola, Priya T., McGinnis, Erin, Millichap, John, van de Kamp, Jiddeke M., Prijoles, Eloise J., Dobson, Amy, Shillington, Amelle, Graham, Brett H., Garcia, Evan-Jacob, Galindo, Maureen Kelly, Ropers, Fabienne G., Nibbeling, Esther A.R., Hubbard, Gail, Karimov, Catherine, Goj, Guido, Bend, Renee, Rath, Julie, Morrow, Michelle M., Millan, Francisca, Salpietro, Vincenzo, Torella, Annalaura, Nigro, Vincenzo, Kurki, Mitja, Stevenson, Roger E., Santen, Gijs W.E., Zweier, Markus, Campeau, Philippe M., Severino, Mariasavina, Reis, André, Accogli, Andrea, Vasileiou, Georgia

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Ramsay hunt syndrome: Clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation von van Egmond, Martje E., Verschuuren-Bemelmans, Corien C., Nibbeling, Esther A., Elting, Jan Willem J., Sival, Deborah A., Brouwer, Oebele F., de Vries, Jeroen J., Kremer, Hubertus P., Sinke, Richard J., Tijssen, Marina A., de Koning, Tom J.

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Putting genome-wide sequencing in neonates into perspective von van der Sluijs, Pleuntje J., Aten, Emmelien, Barge-Schaapveld, Daniela Q. C. M., Bijlsma, Emilia K., Bökenkamp-Gramann, Regina, Donker Kaat, Laura, van Doorn, Remco, van de Putte, Dietje Fransen, van Haeringen, Arie, ten Harkel, Arend D. J., Hilhorst-Hofstee, Yvonne, Hoffer, Mariette J. V., den Hollander, Nicolette S., van Ierland, Yvette, Koopmans, Marije, Kriek, Marjolein, Moghadasi, Setareh, Nibbeling, Esther A. R., Peeters-Scholte, Cacha M. P. C. D., Potjer, Thomas P., van Rij, Maartje, Ruivenkamp, Claudia A. L., Rutten, Julie W., Steggerda, Sylke J., Suerink, Manon, Tan, Ratna N. G. B., van der Tuin, Karin, Visser, Remco, van der Werf –’t Lam, Anne-Sophie, Williams, Monique, Witlox, Ruben, Santen, Gijs W. E.

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Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals von 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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Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes von Levitin, Maria O, Rawlins, Lettie E, Sanchez-Andrade, Gabriela, Arshad, Osama A, Collins, Stephan C, Sawiak, Stephen J, Iffland, Phillip H, Andersson, Malin H L, Bupp, Caleb, Cambridge, Emma L, Coomber, Eve L, Ellis, Ian, Herkert, Johanna C, Ironfield, Holly, Jory, Logan, Kretz, Perrine F, Kant, Sarina G, Neaverson, Alexandra, Nibbeling, Esther, Rowley, Christine, Relton, Emily, Sanderson, Mark, Scott, Ethan M, Stewart, Helen, Shuen, Andrew Y, Schreiber, John, Tuck, Liz, Tonks, James, Terkelsen, Thorkild, van Ravenswaaij-Arts, Conny, Vasudevan, Pradeep, Wenger, Olivia, Wright, Michael, Day, Andrew, Hunter, Adam, Patel, Minal, Lelliott, Christopher J, Crino, Peter B, Yalcin, Binnaz, Crosby, Andrew H, Baple, Emma L, Logan, Darren W, Hurles, Matthew E, Gerety, Sebastian S

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Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals von 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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Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals von 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, 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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Correction: Putting genome-wide sequencing in neonates into perspective von van der Sluijs, Pleuntje J., Aten, Emmelien, Barge-Schaapveld, Daniela Q.C.M., Bijlsma, Emilia K., Bökenkamp-Gramann, Regina, Kaat, Laura Donker, van Doorn, Remco, van de Putte, Dietje Fransen, van Haeringen, Arie, ten Harkel, Arend D.J., Hilhorst-Hofstee, Yvonne, Hoffer, Mariette J.V., den Hollander, Nicolette S., van Ierland, Yvette, Koopmans, Marije, Kriek, Marjolein, Moghadasi, Setareh, Nibbeling, Esther A.R., Peeters-Scholte, Cacha M.P.C.D., Potjer, Thomas P., van Rij, Maartje, Ruivenkamp, Claudia A.L., Rutten, Julie W., Steggerda, Sylke J., Suerink, Manon, Tan, Ratna N.G.B., van der Tuin, Karin, Visser, Remco, van der Werf –’t Lam, Anne-Sophie, Williams, Monique, Witlox, Ruben, Santen, Gijs W.E.

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SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway von Cliffe, Simon T., Kramer, Jamie M., Hussain, Khalid, Robben, Joris H., de Jong, Eiko K., de Brouwer, Arjan P., Nibbeling, Esther, Kamsteeg, Erik-Jan, Wong, Melanie, Prendiville, Julie, James, Chela, Padidela, Raja, Becknell, Charlie, van Bokhoven, Hans, Deen, Peter M.T., Hennekam, Raoul C.M., Lindeman, Robert, Schenck, Annette, Roscioli, Tony, Buckley, Michael F.

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Enhanced detection of Schistosoma circulating antigens by testing 1 ml urine samples using immunomagnetic beads von Nibbeling, H.A.M, Van Etten, L, Fillié, Y.E, Deelder, A.M

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