by Tegtmeyer, Laura C, Rust, Stephan, van Scherpenzeel, Monique, Ng, Bobby G, Losfeld, Marie-Estelle, Timal, Sharita, Raymond, Kimiyo, He, Ping, Ichikawa, Mie, Veltman, Joris, Huijben, Karin, Shin, Yoon S, Sharma, Vandana, Adamowicz, Maciej, Lammens, Martin, Reunert, Janine, Witten, Anika, Schrapers, Esther, Matthijs, Gert, Jaeken, Jaak, Rymen, Daisy, Stojkovic, Tanya, Laforêt, Pascal, Petit, François, Aumaître, Olivier, Czarnowska, Elzbieta, Piraud, Monique, Podskarbi, Teodor, Stanley, Charles A, Matalon, Reuben, Burda, Patricie, Seyyedi, Soraya, Debus, Volker, Socha, Piotr, Sykut-Cegielska, Jolanta, van Spronsen, Francjan, de Meirleir, Linda, Vajro, Pietro, DeClue, Terry, Ficicioglu, Can, Wada, Yoshinao, Wevers, Ron A, Vanderschaeghe, Dieter, Callewaert, Nico, Fingerhut, Ralph, van Schaftingen, Emile, Freeze, Hudson H, Morava, Eva, Lefeber, Dirk J, Marquardt, Thorsten
Published in The New England journal of medicine (06.02.2014)

by TIMAL, Sharita, HOISCHEN, Alexander, GILISSEN, Christian, RODENBURG, Richard J, EIDHOF, Ilse, VAN DEN HEUVEL, Lambert, THIEL, Christian, WEVERS, Ron A, MORAVA, Eva, VELTMAN, Joris, LEFEBER, Dirk J, LEHLE, Ludwig, ADAMOWICZ, Maciej, HUIJBEN, Karin, SYKUT-CEGIELSKA, Jolanta, PAPROCKA, Justyna, JAMROZ, Ewa, VAN SPRONSEN, Francjan J, KÖRNER, Christian
Published in Human molecular genetics (01.10.2012)

by Baertling, Fabian, Sánchez-Caballero, Laura, Timal, Sharita, van den Brand, Mariël AM, Ngu, Lock Hock, Distelmaier, Felix, Rodenburg, Richard JT, Nijtmans, Leo GJ
Published in Molecular genetics and metabolism (01.03.2017)

by Friederich, Marisa W., Timal, Sharita, Powell, Christopher A., Dallabona, Cristina, Kurolap, Alina, Palacios-Zambrano, Sara, Bratkovic, Drago, Derks, Terry G. J., Bick, David, Bouman, Katelijne, Chatfield, Kathryn C., Damouny-Naoum, Nadine, Dishop, Megan K., Falik-Zaccai, Tzipora C., Fares, Fuad, Fedida, Ayalla, Ferrero, Ileana, Gallagher, Renata C., Garesse, Rafael, Gilberti, Micol, González, Cristina, Gowan, Katherine, Habib, Clair, Halligan, Rebecca K., Kalfon, Limor, Knight, Kaz, Lefeber, Dirk, Mamblona, Laura, Mandel, Hanna, Mory, Adi, Ottoson, John, Paperna, Tamar, Pruijn, Ger J. M., Rebelo-Guiomar, Pedro F., Saada, Ann, Sainz, Bruno, Salvemini, Hayley, Schoots, Mirthe H., Smeitink, Jan A., Szukszto, Maciej J., ter Horst, Hendrik J., van den Brandt, Frans, van Spronsen, Francjan J., Veltman, Joris A., Wartchow, Eric, Wintjes, Liesbeth T., Zohar, Yaniv, Fernández-Moreno, Miguel A., Baris, Hagit N., Donnini, Claudia, Minczuk, Michal, Rodenburg, Richard J., Van Hove, Johan L. K.
Published in Nature communications (03.10.2018)

by Cannata Serio, Magda, Graham, Laurie A., Ashikov, Angel, Larsen, Lars Elmann, Raymond, Kimiyo, Timal, Sharita, Le Meur, Gwenn, Ryan, Margret, Czarnowska, Elzbieta, Jansen, Jos C., He, Miao, Ficicioglu, Can, Pichurin, Pavel, Hasadsri, Linda, Minassian, Berge, Rugierri, Alessandra, Kalimo, Hannu, Ríos‐Ocampo, W. Alfredo, Gilissen, Christian, Rodenburg, Richard, Jonker, Johan W., Holleboom, Adriaan G., Morava, Eva, Veltman, Joris A., Socha, Piotr, Stevens, Tom H., Simons, Matias, Lefeber, Dirk J.
Published in Hepatology (Baltimore, Md.) (01.12.2020)

by Jansen, Eric J R, Timal, Sharita, Ryan, Margret, Ashikov, Angel, van Scherpenzeel, Monique, Graham, Laurie A, Mandel, Hanna, Hoischen, Alexander, Iancu, Theodore C, Raymond, Kimiyo, Steenbergen, Gerry, Gilissen, Christian, Huijben, Karin, van Bakel, Nick H M, Maeda, Yusuke, Rodenburg, Richard J, Adamowicz, Maciej, Crushell, Ellen, Koenen, Hans, Adams, Darius, Vodopiutz, Julia, Greber-Platzer, Susanne, Müller, Thomas, Dueckers, Gregor, Morava, Eva, Sykut-Cegielska, Jolanta, Martens, Gerard J M, Wevers, Ron A, Niehues, Tim, Huynen, Martijn A, Veltman, Joris A, Stevens, Tom H, Lefeber, Dirk J
Published in Nature communications (27.05.2016)

by Jansen, Jos C., Timal, Sharita, van Scherpenzeel, Monique, Michelakakis, Helen, Vicogne, Dorothée, Ashikov, Angel, Moraitou, Marina, Hoischen, Alexander, Huijben, Karin, Steenbergen, Gerry, van den Boogert, Marjolein A.W., Porta, Francesco, Calvo, Pier Luigi, Mavrikou, Mersyni, Cenacchi, Giovanna, van den Bogaart, Geert, Salomon, Jody, Holleboom, Adriaan G., Rodenburg, Richard J., Drenth, Joost P.H., Huynen, Martijn A., Wevers, Ron A., Morava, Eva, Foulquier, François, Veltman, Joris A., Lefeber, Dirk J.
Published in American journal of human genetics (04.02.2016)

by Jansen, Jos C., Cirak, Sebahattin, van Scherpenzeel, Monique, Timal, Sharita, Reunert, Janine, Rust, Stephan, Pérez, Belén, Vicogne, Dorothée, Krawitz, Peter, Wada, Yoshinao, Ashikov, Angel, Pérez-Cerdá, Celia, Medrano, Celia, Arnoldy, Andrea, Hoischen, Alexander, Huijben, Karin, Steenbergen, Gerry, Quelhas, Dulce, Diogo, Luisa, Rymen, Daisy, Jaeken, Jaak, Guffon, Nathalie, Cheillan, David, van den Heuvel, Lambertus P., Maeda, Yusuke, Kaiser, Olaf, Schara, Ulrike, Gerner, Patrick, van den Boogert, Marjolein A.W., Holleboom, Adriaan G., Nassogne, Marie-Cécile, Sokal, Etienne, Salomon, Jody, van den Bogaart, Geert, Drenth, Joost P.H., Huynen, Martijn A., Veltman, Joris A., Wevers, Ron A., Morava, Eva, Matthijs, Gert, Foulquier, François, Marquardt, Thorsten, Lefeber, Dirk J.
Published in American journal of human genetics (04.02.2016)

by Wortmann, Saskia B., Timal, Sharita, Venselaar, Hanka, Wintjes, Liesbeth T., Kopajtich, Robert, Feichtinger, René G., Onnekink, Carla, Mühlmeister, Mareike, Brandt, Ulrich, Smeitink, Jan A., Veltman, Joris A., Sperl, Wolfgang, Lefeber, Dirk, Pruijn, Ger, Stojanovic, Vesna, Freisinger, Peter, v Spronsen, Francjan, Derks, Terry GJ, Veenstra‐Knol, Hermine E., Mayr, Johannes A, Rötig, Agnes, Tarnopolsky, Mark, Prokisch, Holger, Rodenburg, Richard J.
Published in Human mutation (01.12.2017)

by VAN SCHERPENZEEL, Monique, TIMAL, Sharita, GRØNBORG, Sabine, RUIJTER, George, KATTENTIDT-MOURAVIEVA, Anna, MORITZ BRUM, Jaime, FRECKMANN, Mary-Louise, TOMKINS, Susan, JALAN, Anil, PROCHAZKOVA, Dagmar, ONDRUSKOVA, Nina, HANSIKOVA, Hana, RYMEN, Daisy, WILLEMSEN, Michel A, HENSBERGEN, Paul J, MATTHIJS, Gert, WEVERS, Ron A, VELTMAN, Joris A, MORAVA, Eva, LEFEBER, Dirk J, HOISCHEN, Alexander, WUHRER, Manfred, HIPGRAVE-EDERVEEN, Agnes, GRUNEWALD, Stephanie, PEANNE, Romain, SAADA, Ann, EDVARDSON, Shimon
Published in Brain (London, England : 1878) (01.04.2014)

by Ugalde, Cristina, Hinttala, Reetta, Timal, Sharita, Smeets, Roel, Rodenburg, Richard J.T., Uusimaa, Johanna, van Heuvel, Lambert P., Nijtmans, Leo G.J., Majamaa, Kari, Smeitink, Jan A.M.
Published in Molecular genetics and metabolism (2007)

by Friederich, Marisa W, Timal, Sharita, Powell, Christopher A, Dallabona, Cristina, Kurolap, Alina, Palacios-Zambrano, Sara, Bratkovic, Drago, Derks, Terry G J, Bick, David, Bouman, Katelijne, Chatfield, Kathryn C, Damouny-Naoum, Nadine, Dishop, Megan K, Falik-Zaccai, Tzipora C, Fares, Fuad, Fedida, Ayalla, Ferrero, Ileana, Gallagher, Renata C, Garesse, Rafael, Gilberti, Micol, González, Cristina, Gowan, Katherine, Habib, Clair, Halligan, Rebecca K, Kalfon, Limor, Knight, Kaz, Lefeber, Dirk, Mamblona, Laura, Mandel, Hanna, Mory, Adi, Ottoson, John, Paperna, Tamar, Pruijn, Ger J M, Rebelo-Guiomar, Pedro F, Saada, Ann, Sainz, Jr, Bruno, Salvemini, Hayley, Schoots, Mirthe H, Smeitink, Jan A, Szukszto, Maciej J, Ter Horst, Hendrik J, van den Brandt, Frans, van Spronsen, Francjan J, Veltman, Joris A, Wartchow, Eric, Wintjes, Liesbeth T, Zohar, Yaniv, Fernández-Moreno, Miguel A, Baris, Hagit N, Donnini, Claudia, Minczuk, Michal, Rodenburg, Richard J, Van Hove, Johan L K
Published in Nature communications (03.10.2018)