Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders

por Pfundt, Rolph, del Rosario, Marisol, Vissers, Lisenka E.L.M., Kwint, Michael P., Janssen, Irene M., de Leeuw, Nicole, Yntema, Helger G., Nelen, Marcel R., Lugtenberg, Dorien, Kamsteeg, Erik-Jan, Wieskamp, Nienke, Stegmann, Alexander P.A., Stevens, Servi J.C., Rodenburg, Richard J.T., Simons, Annet, Mensenkamp, Arjen R., Rinne, Tuula, Gilissen, Christian, Scheffer, Hans, Veltman, Joris A., Hehir-Kwa, Jayne Y.
Publicado 2017

STrengthening the REporting of Genetic Association studies (STREGA) – an extension of the STROBE statement

por Little, Julian, Higgins, Julian PT, Ioannidis, John PA, Moher, David, Gagnon, France, von Elm, Erik, Khoury, Muin J, Cohen, Barbara, Davey-Smith, George, Grimshaw, Jeremy, Scheet, Paul, Gwinn, Marta, Williamson, Robin E, Zou, Guang Yong, Hutchings, Kim, Johnson, Candice Y, Tait, Valerie, Wiens, Miriam, Golding, Jean, van Duijn, Cornelia, McLaughlin, John, Paterson, Andrew, Wells, George, Fortier, Isabel, Freedman, Matthew, Zecevic, Maja, King, Richard, Infante-Rivard, Claire, Stewart, Alex, Birkett, Nick
Publicado 2009

A SWI/SNF related autism syndrome caused by de novo mutations in ADNP

por Helsmoortel, Céline, Vulto-van Silfhout, Anneke T., Coe, Bradley P., Vandeweyer, Geert, Rooms, Liesbeth, van den Ende, Jenneke, Schuurs-Hoeijmakers, Janneke H.M., Marcelis, Carlo L., Willemsen, Marjolein H., Vissers, Lisenka E.L.M., Yntema, Helger G., Bakshi, Madhura, Wilson, Meredith, Witherspoon, Kali T, Malmgren, Helena, Nordgren, Ann, Annerén, Göran, Fichera, Marco, Bosco, Paolo, Romano, Corrado, de Vries, Bert B.A., Kleefstra, Tjitske, Kooy, R. Frank, Eichler, Evan E., Van der Aa, Nathalie
Publicado 2014

STrengthening the REporting of Genetic Association Studies (STREGA)— An Extension of the STROBE Statement

por Little, Julian, Higgins, Julian P.T, Ioannidis, John P.A, Moher, David, Gagnon, France, von Elm, Erik, Khoury, Muin J, Cohen, Barbara, Davey-Smith, George, Grimshaw, Jeremy, Scheet, Paul, Gwinn, Marta, Williamson, Robin E, Zou, Guang Yong, Hutchings, Kim, Johnson, Candice Y, Tait, Valerie, Wiens, Miriam, Golding, Jean, van Duijn, Cornelia, McLaughlin, John, Paterson, Andrew, Wells, George, Fortier, Isabel, Freedman, Matthew, Zecevic, Maja, King, Richard, Infante-Rivard, Claire, Stewart, Alex, Birkett, Nick
Publicado 2009

Strengthening the reporting of genetic association studies (STREGA): an extension of the STROBE statement

por Little, Julian, Higgins, Julian P. T., Ioannidis, John P. A., Moher, David, Gagnon, France, von Elm, Erik, Khoury, Muin J., Cohen, Barbara, Davey-Smith, George, Grimshaw, Jeremy, Scheet, Paul, Gwinn, Marta, Williamson, Robin E., Zou, Guang Yong, Hutchings, Kim, Johnson, Candice Y., Tait, Valerie, Wiens, Miriam, Golding, Jean, van Duijn, Cornelia, McLaughlin, John, Paterson, Andrew, Wells, George, Fortier, Isabel, Freedman, Matthew, Zecevic, Maja, King, Richard, Infante-Rivard, Claire, Stewart, Alex, Birkett, Nick
Publicado 2009

Learning from failure - rationale and design for a study about discontinuation of randomized trials (DISCO study)

por Kasenda, Benjamin, von Elm, Erik B, You, John, Blümle, Anette, Tomonaga, Yuki, Saccilotto, Ramon, Amstutz, Alain, Bengough, Theresa, Meerpohl, Jörg, Stegert, Mihaela, Tikkinen, Kari A O, Neumann, Ignacio, Carrasco-Labra, Alonso, Faulhaber, Markus, Mulla, Sohail, Mertz, Dominik, Akl, Elie A, Bassler, Dirk, Busse, Jason W, Ferreira-González, Ignacio, Lamontagne, Francois, Nordmann, Alain, Rosenthal, Rachel, Schandelmaier, Stefan, Sun, Xin, Vandvik, Per O, Johnston, Bradley C, Walter, Martin A, Burnand, Bernard, Schwenkglenks, Matthias, Bucher, Heiner C, Guyatt, Gordon H, Briel, Matthias
Publicado 2012

De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions

por Mencacci, Niccolò E., Kamsteeg, Erik-Jan, Nakashima, Kosuke, R’Bibo, Lea, Lynch, David S., Balint, Bettina, Willemsen, Michèl A.A.P., Adams, Matthew E., Wiethoff, Sarah, Suzuki, Kazunori, Davies, Ceri H., Ng, Joanne, Meyer, Esther, Veneziano, Liana, Giunti, Paola, Hughes, Deborah, Raymond, F. Lucy, Carecchio, Miryam, Zorzi, Giovanna, Nardocci, Nardo, Barzaghi, Chiara, Garavaglia, Barbara, Salpietro, Vincenzo, Hardy, John, Pittman, Alan M., Houlden, Henry, Kurian, Manju A., Kimura, Haruhide, Vissers, Lisenka E.L.M., Wood, Nicholas W., Bhatia, Kailash P.
Publicado 2016

Framework for advancing rigorous research

por Koroshetz, Walter J, Behrman, Shannon, Brame, Cynthia J, Branchaw, Janet L, Brown, Emery N, Clark, Erin A, Dockterman, David, Elm, Jordan J, Gay, Pamela L, Green, Katelyn M, Hsi, Sherry, Kaplitt, Michael G, Kolber, Benedict J, Kolodkin, Alex L, Lipscombe, Diane, MacLeod, Malcolm R, McKinney, Caleb C, Munafò, Marcus R, Oakley, Barbara, Olimpo, Jeffrey T, Percie du Sert, Nathalie, Raman, Indira M, Riley, Ceri, Shelton, Amy L, Uzzo, Stephen Miles, Crawford, Devon C, Silberberg, Shai D
Publicado 2020

Rationale and design of repeated cross-sectional studies to evaluate the reporting quality of trial protocols: the Adherence to SPIrit REcommendations (ASPIRE) study and associated...

por Gryaznov, Dmitry, Odutayo, Ayodele, von Niederhäusern, Belinda, Speich, Benjamin, Kasenda, Benjamin, Ojeda-Ruiz, Elena, Blümle, Anette, Schandelmaier, Stefan, Mertz, Dominik, Tomonaga, Yuki, Amstutz, Alain, Pauli-Magnus, Christiane, Gloy, Viktoria, Bischoff, Karin, Wollmann, Katharina, Rehner, Laura, Lohner, Szimonetta, Meerpohl, Joerg J., Nordmann, Alain, Klatte, Katharina, Ghosh, Nilabh, Heravi, Ala Taji, Wong, Jacqueline, Chow, Ngai, Hong, Patrick Jiho, Cord, Kimberly Mc, Sricharoenchai, Sirintip, Busse, Jason W., Agarwal, Arnav, Saccilotto, Ramon, Schwenkglenks, Matthias, Moffa, Giusi, Hemkens, Lars G., Hopewell, Sally, von Elm, Erik, Briel, Matthias
Publicado 2020

Reporting quality of clinical trial protocols: a repeated cross-sectional study about the Adherence to SPIrit Recommendations in Switzerland, CAnada and GErmany (ASPIRE-SCAGE)

por Gryaznov, Dmitry, von Niederhäusern, Belinda, Speich, Benjamin, Kasenda, Benjamin, Ojeda-Ruiz, Elena, Blümle, Anette, Schandelmaier, Stefan, Mertz, Dominik, Odutayo, Ayodele, Tomonaga, Yuki, Amstutz, Alain, Pauli-Magnus, Christiane, Gloy, Viktoria, Lohner, Szimonetta, Bischoff, Karin, Wollmann, Katharina, Rehner, Laura, Meerpohl, Joerg J, Nordmann, Alain, Klatte, Katharina, Ghosh, Nilabh, Taji Heravi, Ala, Wong, Jacqueline, Chow, Ngai, Hong, Patrick, McCord - De Iaco, Kimberly A, Sricharoenchai, Sirintip, Busse, Jason W, Agarwal, Arnav, Saccilotto, Ramon, Schwenkglenks, Matthias, Moffa, Giusi, Hemkens, Lars, Hopewell, Sally, Von Elm, Erik, Briel, Matthias
Publicado 2022

Subgroup analyses in randomised controlled trials: cohort study on trial protocols and journal publications

por Kasenda, Benjamin, Schandelmaier, Stefan, Sun, Xin, von Elm, Erik, You, John, Blümle, Anette, Tomonaga, Yuki, Saccilotto, Ramon, Amstutz, Alain, Bengough, Theresa, Meerpohl, Joerg J, Stegert, Mihaela, Olu, Kelechi K, Tikkinen, Kari A O, Neumann, Ignacio, Carrasco-Labra, Alonso, Faulhaber, Markus, Mulla, Sohail M, Mertz, Dominik, Akl, Elie A, Bassler, Dirk, Busse, Jason W, Ferreira-González, Ignacio, Lamontagne, Francois, Nordmann, Alain, Gloy, Viktoria, Raatz, Heike, Moja, Lorenzo, Rosenthal, Rachel, Ebrahim, Shanil, Vandvik, Per O, Johnston, Bradley C, Walter, Martin A, Burnand, Bernard, Schwenkglenks, Matthias, Hemkens, Lars G, Bucher, Heiner C, Guyatt, Gordon H, Briel, Matthias
Publicado 2014

Agreements between Industry and Academia on Publication Rights: A Retrospective Study of Protocols and Publications of Randomized Clinical Trials

por Kasenda, Benjamin, von Elm, Erik, You, John J., Blümle, Anette, Tomonaga, Yuki, Saccilotto, Ramon, Amstutz, Alain, Bengough, Theresa, Meerpohl, Joerg J., Stegert, Mihaela, Olu, Kelechi K., Tikkinen, Kari A. O., Neumann, Ignacio, Carrasco-Labra, Alonso, Faulhaber, Markus, Mulla, Sohail M., Mertz, Dominik, Akl, Elie A., Bassler, Dirk, Busse, Jason W., Ferreira-González, Ignacio, Lamontagne, Francois, Nordmann, Alain, Gloy, Viktoria, Raatz, Heike, Moja, Lorenzo, Ebrahim, Shanil, Schandelmaier, Stefan, Sun, Xin, Vandvik, Per O., Johnston, Bradley C., Walter, Martin A., Burnand, Bernard, Schwenkglenks, Matthias, Hemkens, Lars G., Bucher, Heiner C., Guyatt, Gordon H., Briel, Matthias
Publicado 2016

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

por Roscioli, Tony, Kamsteeg, Erik-Jan, Buysse, Karen, Maystadt, Isabelle, van Reeuwijk, Jeroen, van den Elzen, Christa, van Beusekom, Ellen, Riemersma, Moniek, Pfundt, Rolph, Vissers, Lisenka E.L.M., Schraders, Margit, Altunoglu, Umut, Buckley, Michael F., Brunner, Han G., Grisart, Bernard, Zhou, Huiqing, Veltman, Joris A., Gilissen, Christian, Mancini, Grazia M.S., Delrée, Paul, Willemsen, Michèl A., Ramadža, Danijela Petković, Chitayat, David, Bennett, Christopher, Sheridan, Eamonn, Peeters, Els A.J., Tan-Sindhunata, Gita M.B., de Die-Smulders, Christine E., Devriendt, Koenraad, Kayserili, Hülya, El-Hashash, Osama Abd El-Fattah, Stemple, Derek L., Lefeber, Dirk J., Lin, Yung-Yao, van Bokhoven, Hans
Publicado 2012

Nonregistration, discontinuation, and nonpublication of randomized trials: A repeated metaresearch analysis

por Speich, Benjamin, Gryaznov, Dmitry, Busse, Jason W., Gloy, Viktoria L., Lohner, Szimonetta, Klatte, Katharina, Taji Heravi, Ala, Ghosh, Nilabh, Lee, Hopin, Mansouri, Anita, Marian, Ioana R., Saccilotto, Ramon, Nury, Edris, Kasenda, Benjamin, Ojeda–Ruiz, Elena, Schandelmaier, Stefan, Tomonaga, Yuki, Amstutz, Alain, Pauli–Magnus, Christiane, Bischoff, Karin, Wollmann, Katharina, Rehner, Laura, Meerpohl, Joerg J., Nordmann, Alain, Wong, Jacqueline, Chow, Ngai, Hong, Patrick Jiho, Mc Cord – De Iaco, Kimberly, Sricharoenchai, Sirintip, Agarwal, Arnav, Schwenkglenks, Matthias, Hemkens, Lars G., von Elm, Erik, Copsey, Bethan, Griessbach, Alexandra N., Schönenberger, Christof, Mertz, Dominik, Blümle, Anette, von Niederhäusern, Belinda, Hopewell, Sally, Odutayo, Ayodele, Briel, Matthias
Publicado 2022

Refining analyses of copy number variation identifies specific genes associated with developmental delay

por Coe, Bradley P., Witherspoon, Kali, Rosenfeld, Jill A., van Bon, Bregje W.M., Vulto-van Silfhout, Anneke T., Bosco, Paolo, Friend, Kathryn L., Baker, Carl, Buono, Serafino, Vissers, Lisenka E.L.M., Schuurs-Hoeijmakers, Janneke H., Hoischen, Alex, Pfundt, Rolph, Krumm, Nik, Carvill, Gemma L., Li, Deana, Amaral, David, Brown, Natasha, Lockhart, Paul J., Scheffer, Ingrid E, Alberti, Antonino, Shaw, Marie, Pettinato, Rosa, Tervo, Raymond, de Leeuw, Nicole, Reijnders, Margot R.F., Torchia, Beth S., Peeters, Hilde, O'Roak, Brian J., Fichera, Marco, Hehir-Kwa, Jayne Y., Shendure, Jay, Mefford, Heather C., Haan, Eric, Gécz, Jozef, de Vries, Bert B.A., Romano, Corrado, Eichler, Evan E.
Publicado 2014

Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis

por Ockeloen, Charlotte W., Khandelwal, Kriti D., Dreesen, Karoline, Ludwig, Kerstin U., Sullivan, Robert, van Rooij, Iris A.L.M., Thonissen, Michelle, Swinnen, Steven, Phan, Milien, Conte, Federica, Ishorst, Nina, Gilissen, Christian, RoaFuentes, Laury, van de Vorst, Maartje, Henkes, Arjen, Steehouwer, Marloes, van Beusekom, Ellen, Bloemen, Marjon, Vankeirsbilck, Bruno, Bergé, Stefaan, Hens, Greet, Schoenaers, Joseph, Poorten, Vincent Vander, Roosenboom, Jasmien, Verdonck, An, Devriendt, Koen, Roeleveldt, Nel, Jhangiani, Shalini N., Vissers, Lisenka E.L.M., Lupski, James R., de Ligt, Joep, Von den Hoff, Johannes W., Pfundt, Rolph, Brunner, Han G., Zhou, Huiqing, Dixon, Jill, Mangold, Elisabeth, van Bokhoven, Hans, Dixon, Michael J., Kleefstra, Tjitske, Hoischen, Alexander, Carels, Carine E.L.
Publicado 2016

YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction

por Gabriele, Michele, Vulto-van Silfhout, Anneke T., Germain, Pierre-Luc, Vitriolo, Alessandro, Kumar, Raman, Douglas, Evelyn, Haan, Eric, Kosaki, Kenjiro, Takenouchi, Toshiki, Rauch, Anita, Steindl, Katharina, Frengen, Eirik, Misceo, Doriana, Pedurupillay, Christeen Ramane J., Stromme, Petter, Rosenfeld, Jill A., Shao, Yunru, Craigen, William J., Schaaf, Christian P., Rodriguez-Buritica, David, Farach, Laura, Friedman, Jennifer, Thulin, Perla, McLean, Scott D., Nugent, Kimberly M., Morton, Jenny, Nicholl, Jillian, Andrieux, Joris, Stray-Pedersen, Asbjørg, Chambon, Pascal, Patrier, Sophie, Lynch, Sally A., Kjaergaard, Susanne, Tørring, Pernille M., Brasch-Andersen, Charlotte, Ronan, Anne, van Haeringen, Arie, Anderson, Peter J., Powis, Zöe, Brunner, Han G., Pfundt, Rolph, Schuurs-Hoeijmakers, Janneke H.M., van Bon, Bregje W.M., Lelieveld, Stefan, Gilissen, Christian, Nillesen, Willy M., Vissers, Lisenka E.L.M., Gecz, Jozef, Koolen, David A., Testa, Giuseppe, de Vries, Bert B.A.
Publicado 2017

Improving social justice in observational studies: protocol for the development of a global and Indigenous STROBE-equity reporting guideline

por Funnell, Sarah, Jull, Janet, Mbuagbaw, Lawrence, Welch, Vivian, Dewidar, Omar, Wang, Xiaoqin, Lesperance, Miranda, Ghogomu, Elizabeth, Rizvi, Anita, Akl, Elie A., Avey, Marc T., Antequera, Alba, Bhutta, Zulfiqar A., Chamberlain, Catherine, Craig, Peter, Cuervo, Luis Gabriel, Dicko, Alassane, Ellingwood, Holly, Feng, Cindy, Francis, Damian, Greer-Smith, Regina, Hardy, Billie-Jo, Harwood, Matire, Hatcher-Roberts, Janet, Horsley, Tanya, Juando-Prats, Clara, Kasonde, Mwenya, Kennedy, Michelle, Kredo, Tamara, Krentel, Alison, Kristjansson, Elizabeth, Langer, Laurenz, Little, Julian, Loder, Elizabeth, Magwood, Olivia, Mahande, Michael Johnson, Melendez-Torres, G. J., Moore, Ainsley, Niba, Loveline Lum, Nicholls, Stuart G., Nkangu, Miriam Nguilefem, Lawson, Daeria O., Obuku, Ekwaro, Okwen, Patrick, Pantoja, Tomas, Petkovic, Jennifer, Petticrew, Mark, Pottie, Kevin, Rader, Tamara, Ramke, Jacqueline, Riddle, Alison, Shamseer, Larissa, Sharp, Melissa, Shea, Bev, Tanuseputro, Peter, Tugwell, Peter, Tufte, Janice, Von Elm, Erik, Waddington, Hugh Sharma, Wang, Harry, Weeks, Laura, Wells, George, White, Howard, Wiysonge, Charles Shey, Wolfenden, Luke, Young, Taryn
Publicado 2023