Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus by Beunders, Gea, Voorhoeve, Els, Golzio, Christelle, Pardo, Luba M., Rosenfeld, Jill A., Talkowski, Michael E., Simonic, Ingrid, Lionel, Anath C., Vergult, Sarah, Pyatt, Robert E., van de Kamp, Jiddeke, Nieuwint, Aggie, Weiss, Marjan M., Rizzu, Patrizia, Verwer, Lucilla E.N.I., van Spaendonk, Rosalina M.L., Shen, Yiping, Wu, Bai-lin, Yu, Tingting, Yu, Yongguo, Chiang, Colby, Gusella, James F., Lindgren, Amelia M., Morton, Cynthia C., van Binsbergen, Ellen, Bulk, Saskia, van Rossem, Els, Vanakker, Olivier, Armstrong, Ruth, Park, Soo-Mi, Greenhalgh, Lynn, Maye, Una, Neill, Nicholas J., Abbott, Kristin M., Sell, Susan, Ladda, Roger, Farber, Darren M., Bader, Patricia I., Cushing, Tom, Drautz, Joanne M., Konczal, Laura, Nash, Patricia, de Los Reyes, Emily, Carter, Melissa T., Hopkins, Elizabeth, Marshall, Christian R., Osborne, Lucy R., Gripp, Karen W., Thrush, Devon Lamb, Hashimoto, Sayaka, Gastier-Foster, Julie M., Astbury, Caroline, Ylstra, Bauke, Meijers-Heijboer, Hanne, Posthuma, Danielle, Menten, Björn, Mortier, Geert, Scherer, Stephen W., Eichler, Evan E., Girirajan, Santhosh, Katsanis, Nicholas, Groffen, Alexander J., Sistermans, Erik A.

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Functional Equivalence of Structurally Distinct Ribosomes in the Malaria Parasite, Plasmodium berghei by van Spaendonk, Rosalina M.L., Ramesar, Jai, van Wigcheren, Auke, Eling, Wijnand, Beetsma, Annette L., van Gemert, Geert-Jan, Hooghof, Jo, Janse, Chris J., Waters, Andrew P.

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POLR3A variants with striatal involvement and extrapyramidal movement disorder by Harting, Inga, Al-Saady, Murtadha, Krägeloh-Mann, Ingeborg, Bley, Annette, Hempel, Maja, Bierhals, Tatjana, Karch, Stephanie, Moog, Ute, Bernard, Geneviève, Huntsman, Richard, van Spaendonk, Rosalina M. L., Vreeburg, Maaike, Rodríguez-Palmero, Agustí, Pujol, Aurora, van der Knaap, Marjo S., Pouwels, Petra J. W., Wolf, Nicole I.

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Congenital amegakaryocytic thrombocytopenia presenting with a new thrombopoietin receptor (MPL) pathogenic variant: An instructive neonatal case by Vanholder, Inez M, Ecury‐Goossen, Ginette M, Admiraal, Jop, Porcelijn, Leendert, Spaendonk, Rosalina ML, Gouw, Samantha C

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Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature by Passchier, Emma M J, Bisseling, Quinty, Helman, Guy, van Spaendonk, Rosalina M L, Simons, Cas, Olsthoorn, René C L, van der Veen, Hieke, Abbink, Truus E M, van der Knaap, Marjo S, Min, Rogier

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Case report: XMEN disease: a patient with recurrent Hodgkin lymphoma and immune thrombocytopenia by de Groot, Pieter F, Kwakernaak, Arjan J, van Leeuwen, Ester M M, van Spaendonk, Rosalina M L, Kooi, Evert-Jan, de Jong, Daphne, Kuijpers, Taco W, Zijlstra, Josée M, de Bree, Godelieve J

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Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants by Gauquelin, Laurence, Cayami, Ferdy K, Sztriha, László, Yoon, Grace, Tran, Luan T, Guerrero, Kether, Hocke, François, van Spaendonk, Rosalina M L, Fung, Eva L, D'Arrigo, Stefano, Vasco, Gessica, Thiffault, Isabelle, Niyazov, Dmitriy M, Person, Richard, Lewis, Kara Stuart, Wassmer, Evangeline, Prescott, Trine, Fallon, Penny, McEntagart, Meriel, Rankin, Julia, Webster, Richard, Philippi, Heike, van de Warrenburg, Bart, Timmann, Dagmar, Dixit, Abhijit, Searle, Claire, Thakur, Nivedita, Kruer, Michael C, Sharma, Suvasini, Vanderver, Adeline, Tonduti, Davide, van der Knaap, Marjo S, Bertini, Enrico, Goizet, Cyril, Fribourg, Sébastien, Wolf, Nicole I, Bernard, Geneviève

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Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy by Gutierrez, Mariana, Thiffault, Isabelle, Guerrero, Kether, Martos-Moreno, Gabriel Á, Tran, Luan T, Benko, William, van der Knaap, Marjo S, van Spaendonk, Rosalina M L, Wolf, Nicole I, Bernard, Geneviève

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Species-specific Regulation and Switching of Transcription between Stage-specific Ribosomal RNA Genes in Plasmodium berghei by Waters, Andrew P., van Spaendonk, Rosalina M.L., Ramesar, Jai, Vervenne, Richard A.W., Dirks, Roeland W., Thompson, Joanne, Janse, Chris J.

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Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C by Pelletier, Félixe, Cayami, Ferdy K, Mirchi, Amytice, Saikali, Stephan, Tran, Luan T, Ulrick, Nicole, van Spaendonk, Rosalina M L, Naidu, Sakkubai, Pohl, Daniela, Gibson, William T, Demos, Michelle, Goizet, Cyril, Tejera-Martin, Ingrid, Potic, Ana, Fogel, Brent L, Brais, Bernard, Sylvain, Michel, Sébire, Guillaume, Lourenço, Charles Marques, Catsman-Berrevoets, Coriene, Pinto, Pedro S, Tirupathi, Sandya, Strømme, Petter, Gieruszczak-Bialek, Dorota, Krägeloh-Mann, Ingeborg, Mierzewska, Hanna, Philippi, Heike, Rankin, Julia, Atik, Tahir, Banwell, Brenda, Benko, William S, Blaschek, Astrid, Bley, Annette, Boltshauser, Eugen, Bratkovic, Drago, Brozova, Klara, Cimas, Icíar, Clough, Christopher, Dinopoulos, Argirios, Dolan, Gail, Faletra, Flavio, Fernandez, Raymond, Fletcher, Janice, Garcia Garcia, Maria Eugenia, Gasparini, Paolo, Gburek-Augustat, Janina, Gonzalez Moron, Dolores, Hamati, Aline, Harting, Inga, Hertzberg, Christoph, Hill, Alan, Kauffman, Marcelo, Kluger, Gerhard, Kotzaeridou, Urania, La Piana, Roberta, Liston, Eriskay, McClintock, William, McEntagart, Meriel, McKenzie, Fiona, Melançon, Serge, Misbahuddin, Anjum, Suri, Mohnish, Monton, Fernando I, Murphy, Raymond P J, Nickel, Miriam, Onay, Hüseyin, Orcesi, Simona, Özkınay, Ferda, Patzer, Steffi, Pedro, Helio, Pineda Marfa, Mercedes, Pizzino, Amy, Plecko, Barbara, Poll-The, Bwee Tien, Popovic, Vera, Rating, Dietz, Rioux, Marie-France, Ronan, Anne, Ostergaard, John R, Rossignol, Elsa, Sanchez-Carpintero, Rocio, Schossig, Anna, Sønderberg Roos, Laura K, Synofzik, Matthis, Sztriha, László, Tibussek, Daniel, Timmann, Dagmar, Tonduti, Davide, van de Warrenburg, Bart P, Vázquez-López, Maria, Venkateswaran, Sunita, Wasling, Pontus, Webster, Richard I, Wiegand, Gert, Yoon, Grace, Rotteveel, Joost, Schiffmann, Raphael, Vanderver, Adeline, Martos-Moreno, Gabriel Á, Bernard, Geneviève

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Interferon‐α and the calcifying microangiopathy in Aicardi–Goutières syndrome by Klok, Melanie D., Bakels, Hannah S., Postma, Nienke L., Spaendonk, Rosalina M. L., Knaap, Marjo S., Bugiani, Marianna

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The rodent malaria parasite Plasmodium berghei does not contain a typical O-type small subunit ribosomal RNA gene by van Spaendonk, Rosalina M.L, Ramesar, Jai, Janse, Chris J, Waters, Andrew P

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Altered PLP1 splicing causes hypomyelination of early myelinating structures by Kevelam, Sietske H., Taube, Jennifer R., Spaendonk, Rosalina M. L., Bertini, Enrico, Sperle, Karen, Tarnopolsky, Mark, Tonduti, Davide, Valente, Enza Maria, Travaglini, Lorena, Sistermans, Erik A., Bernard, Geneviève, Catsman‐Berrevoets, Coriene E., Karnebeek, Clara D. M., Østergaard, John R., Friederich, Richard L., Fawzi Elsaid, Mahmoud, Schieving, Jolanda H., Tarailo‐Graovac, Maja, Orcesi, Simona, Steenweg, Marjan E., Berkel, Carola G. M., Waisfisz, Quinten, Abbink, Truus E. M., Knaap, Marjo S., Hobson, Grace M., Wolf, Nicole I.

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The selectable marker human dihydrofolate reductase enables sequential genetic manipulation of the Plasmodium berghei genome by de Koning-Ward, Tania F., Fidock, David A., Thathy, Vandana, Menard, Robert, van Spaendonk, Rosalina M.L., Waters, Andrew P., Janse, Chris J.

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Heterogeneous ribosome populations are present in Plasmodium berghei during development in its vector by Thompson, Joanne, Van Spaendonk, Rosalina M. L., Choudhuri, Rangana, Sinden, Robert E., Janse, Chris J., Waters, Andrew P.

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Identification of the transcription initiation site of the asexually expressed rRNA genes of the malaria parasite Plasmodium berghei by van Spaendonk, Rosalina M.L., McConkey, Glenn A., Ramesar, Jai, Gabrielian, Andrei, McCutchan, Thomas F., Janse, Chris J., Waters, Andrew P.

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