학술논문
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'학술논문'
에서 검색결과 173건 | 목록
1~20
Academic Journal
Sébastien Küry; Janelle E. Stanton; Geeske M. van Woerden; Amélie Bosc-Rosati; Tzung-Chien Hsieh; Lise Bray; Marielle Oloudé; Cory Rosenfelt; Marie Pier Scott-Boyer; Victoria Most; Tianyun Wang; Jonas J. Papendorf; Charlotte de Konink; Wallid Deb; Virginie Vignard; Maja Studencka-Turski; Thomas Besnard; Anna M. Hajdukowicz; Franziska G. Thiel; Sophie Wolfgramm; Laëtitia Florenceau; Silvestre Cuinat; Sylvain Marsac; Yann Verrès; Audrey Dangoumau; Léa Poirier; Ingrid M. Wentzensen; Annabelle Tuttle; Cara Forster; Johanna Striesow; Richard Golnik; Damara Ortiz; Laura Jenkins; Jill A. Rosenfeld; Alban Ziegler; Clara Houdayer; Dominique Bonneau; Erin Torti; Amber Begtrup; Kristin G. Monaghan; Sureni V. Mullegama; Catharina M. L. Nienke Volker-Touw; Koen L. I. van Gassen; Renske Oegema; Mirjam S. de Pagter; Katharina Steindl; Anita Rauch; Ivan Ivanovski; Kimberly McDonald; Emily Boothe; Andrew Dauber; Janice Baker; Noelle Andrea V. Fabie; Raphael A. Bernier; Tychele N. Turner; Siddharth Srivastava; Kira A. Dies; Lindsay C. Swanson; Carrie Costin; Alali Abdulrazak; Rebekah K. Jobling; John Pappas; Rachel Rabin; Dmitriy Niyazov; Anne Chun-Hui Tsai; Karen Kovak; David B. Beck; May Christine V. Malicdan; David R. Adams; Lynne Wolfe; Rebecca D. Ganetzky; Colleen C. Muraresku; Davit Babikyan; Zdeněk Sedláček; Miroslava Hančárová; Andrew T. Timberlake; Hind Al Saif; Berkley Nestler; Kayla King; MJ Hajianpour; Gregory Costain; D’Arcy Prendergast; Chumei Li; David Geneviève; Antonio Vitobello; Arthur Sorlin; Christophe Philippe; Tamar Harel; Ori Toker; Ataf Sabir; Derek Lim; Mark J. Hamilton; Lisa J. Bryson; Elaine Cleary; Sacha Weber; Trevor L. Hoffman; Anna M. Cueto-González; Eduardo F. Tizzano; David Gómez-Andrés; Marta Codina-Solà; Athina Ververi; Efterpi Pavlidou; Alexandros Lambropoulos; Kyriakos Garganis; Marlène Rio; Jonathan Levy; Sarah J. Langas; Anne M. McRae; Mathieu K. Lessard; Maria Daniela D’Agostino; Isabelle De Bie; Meret Wegler; Rami Abou Jamra; Susanne B. Kamphausen; Viktoria Bothe; Lorraine Potocki; Eric Olinger; Yves Sznajer; Elsa Wiame; Michelle L. Thompson; Molly C. Schroeder; Catherine Gooch; Raphael A. Smith; Arti Pandya; Larissa M. Busch; Uwe Völker; Elke Hammer; Kristian Wende; Benjamin Cogné; Bertrand Isidor; Jens Meiler; Clémentine Ripoll; Stéphanie Bigou; Frédéric Laumonnier; Peter W. Hildebrand; Evan E. Eichler; Kirsty McWalter; Peter M. Krawitz; Florence Roux-Dalvai; Ype Elgersma; Julien Marcoux; Marie-Pierre Bousquet; Arnaud Droit; Jeremie Poschmann; Andreas M. Grabrucker; Francois V. Bolduc; Stéphane Bézieau; Frédéric Ebstein; Elke Krüger
Nature Communications, Vol 16, Iss 1, Pp 1-21 (2025)
Academic Journal
Müller, Franz ; Neuser, Sonja ; Shrestha, Gaurav ; Neupane, Netra P. ; Götze, Katharina J. ; Brunetti-Pierri, Nicola ; Terrone, Gaetano ; Reymond, Alexandre ; van Gassen, Koen L. ; Brilstra, Eva ; Steindl, Katharina ; Begemann, Anais ; Rauch, Anita ; Rips, Jonathan ; Fahham, Duha ; Barakat, Tahsin Stefan ; Patat, Olivier ; Mortreux, Jérémie ; Chau, Matthew Hoi Kin ; Rosenfeld, Jill A. ; Mizerik, Elizabeth ; Srivastava, Swati ; Luo, Xi ; Dahse, Anne-Kristin ; Scholz, Nicole ; Das, Joydip ; Roman, Gregg ; Langenhan, Tobias ; Abou Jamra, Rami ; Mrestani, Achmed ; Ljaschenko, Dmitrij
In Biochemistry and Biophysics Reports March 2026 45
Academic Journal
Muffels, Irena Josephina Johanna; Waterham, Hans R.; D'Alessandro, Giuseppina; Zagnoli-Vieira, Guido; Sacher, Michael; Lefeber, Dirk J.; Van der Vinne, Celine; Roifman, Chaim M.; Gassen, Koen L. I.; Rehmann, Holger; Van Haaften-Visser, Desiree Y.; Nieuwenhuis, Edward S. S.; Jackson, Stephen P.; Fuchs, Sabine A.; Wijk, Femke; van Hasselt, Peter
Genome Medicine. February 7, 2025, Vol. 17 Issue 1
Academic Journal
van Oirsouw, Amber S. E.; Nedbalova, Pavla; Hancarova, Miroslava; Prchal, Jan; Prchalova, Darina; Vlckova, Marketa; Bendova, Sarka; Monaghan, Kristin G.; Dyer, Lisa M.; Chen, Yanmin; Carere, Deanna Alexis; te Bogt, Emma A. M.; Fisher, Heather; Scheuerle, Angela E.; Riley, Stephanie; Jain, Mahim; Mu, Weiyi; Bodurtha, Joann N.; van Eerde, Albertien M.; Stokman, Marijn F.; Longo, Nicola; Balasubramanian, Meena; Spiller, Michael; Costain, Gregory; von der Lippe, Charlotte; Tveten, Kristian; Jortveit, Marianne; Holla, Oystein L.; Isidor, Bertrand; Cogne, Benjamin; Glinton, Kevin E.; Vuocolo, Blake; Sierra, Roberta Ann; Angle, Brad; Bontempo, Kelly; Koop, Klaas; Rabin, Rachel; Pappas, John; Staffenberg, David A.; Joset, Pascal; Miny, Peter; Filges, Isabel; Alali, Abdulrazak; Vitalone, Kara; Rosenfeld, Jill A.; Bi, Weimin; Bradbrook, Samuel; Perrier, Renee; Ramanathan, Subhadra; Gold, June-Anne; Bralo, Maria Palomares; Gomez-Cano, Maria Angeles; Olney, Ann Haskins; Nielsen, Shelly; Ziegler, Alban; Bonneau, Dominique; Prouteau, Clement; Bruel, Ange-Line; Caille-Benigni, Charlotte; Lambert, Laetitia; Yu, Andrea C.; Robin, Nathaniel H.; Goodloe, Dana; Fischer, Jan; Porrmann, Joseph; Hennig, Yvonne D.; Jamra, Rami Abou; Herman, Isabella; Johnson, Ivy R.; Herissant, Lucas; Jouret, Guillaume; van Gassen, Koen L. I.; van Binsbergen, Ellen; van der Zwaag, Bert; Kamermans, Alwin; Oegema, Renske; Sedlacek, Zdenek; Fenckova, Michaela; van Jaarsveld, Richard H.
Academic Journal
Muffels, Irena J. J.; Carter, Theodore; Rehmann, Holger; Vastert, Sebastiaan J.; Stuart, Annemarie A. Verrijn; Blank, Andreas C.; Garde, Aurore; van der Zwaag, Bert; De Lange, Iris M.; Giltay, Jacques C.; van Gassen, Koen L. I.; Koop, Klaas; Asensio, Cedric S.; van Hasselt, Peter M.
Academic Journal
Harris, Holly K; Nakayama, Tojo; Lai, Jenny; Zhao, Boxun; Argyrou, Nikoleta; Gubbels, Cynthia S; Soucy, Aubrie; Genetti, Casie A; Suslovitch, Victoria; Rodan, Lance H; Tiller, George E; Lesca, Gaetan; Gripp, Karen W; Asadollahi, Reza; Hamosh, Ada; Applegate, Carolyn D; Turnpenny, Peter D; Simon, Marleen E H; Volker-Touw, Catharina M L; Gassen, Koen L I van; Binsbergen, Ellen van; Pfundt, Rolph; Gardeitchik, Thatjana; Vries, Bert B A de; Immken, LaDonna L; Buchanan, Catherine; Willing, Marcia; Toler, Tomi L; Fassi, Emily; Baker, Laura; Vansenne, Fleur; Wang, Xiadong; Ambrus, Julian L; Fannemel, Madeleine; Posey, Jennifer E; Agolini, Emanuele; Novelli, Antonio; Rauch, Anita; Boonsawat, Paranchai; Fagerberg, Christina R; Larsen, Martin J; Kibaek, Maria; Labalme, Audrey; Poisson, Alice; Payne, Katelyn K; Walsh, Laurence E; Aldinger, Kimberly A; Balciuniene, Jorune; Skraban, Cara; Gray, Christopher; Murrell, Jill; Bupp, Caleb P; Pascolini, Giulia; Grammatico, Paola; Broly, Martin; Küry, Sébastien; Nizon, Mathilde; Rasool, Iqra Ghulam; Zahoor, Muhammad Yasir; Kraus, Cornelia; Reis, André; Iqbal, Muhammad; Uguen, Kevin; Audebert-Bellanger, Severine; Ferec, Claude; Redon, Sylvia; Baker, Janice; Wu, Yunhong; Zampino, Giuseppe; Syrbe, Steffan; Brosse, Ines; Jamra, Rami Abou; Dobyns, William B; Cohen, Lilian L; Blomhoff, Anne; Mignot, Cyril; Keren, Boris; Courtin, Thomas; Agrawal, Pankaj B; Beggs, Alan H; Yu, Timothy W
Genetics in Medicine, 23, 6, pp. 1028-1040
Harris, H K, Nakayama, T, Lai, J, Zhao, B, Argyrou, N, Gubbels, C S, Soucy, A, Genetti, C A, Suslovitch, V, Rodan,L H, Tiller, G E, Lesca, G, Gripp, K W, Asadollahi, R, Hamosh, A, Applegate, C D, Turnpenny, P D, Simon, M E H, Volker-Touw, C M L , Gassen , K L I V, Binsbergen, E V, Pfundt, R, Gardeitchik, T, Vries, B B A D, Immken, L L , Buchanan, C, Willing, M, Toler, T L , Fassi, E, Baker, L , Vansenne, F, Wang, X, Ambrus, J L , Fannemel, M, Posey, J E, Agolini, E, Novelli, A, Rauch, A, Boonsawat, P, Fagerberg, C R, Larsen, M J, Kibaek, M, Labalme, A, Poisson, A, Payne, K K, Walsh, L E, Aldinger, K A, Balciuniene, J, Skraban, C, Gray, C, Murrell, J, Bupp, C P, Pascolini, G, Grammatico, P, Broly, M, Küry, S, Nizon, M, Rasool, I G, Zahoor, M Y, Kraus, C, Reis, A, Iqbal, M, Uguen, K, Audebert-Bellanger, S, Ferec, C, Redon, S, Baker, J, Wu, Y, Zampino, G, Syrbe, S, Brosse, I , Jamra, R A, Dobyns, W B, Cohen, L L , Blomhoff, A, Mignot, C, Keren, B, Courtin, T, Agrawal, P B, Beggs, A H & Yu, T W 2021, ' Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 23, no. 6, pp. 1028-1040 . https://doi.org/10.1038/s41436-021-01114-z
Harris, H K, Nakayama, T, Lai, J, Zhao, B, Argyrou, N, Gubbels, C S, Soucy, A, Genetti, C A, Suslovitch, V, Rodan,
Academic Journal
Rots, Dmitrijs; Bouman, Arianne; Yamada, Ayumi; Levy, Michael; Dingemans, Alexander J M; de Vries, Bert B A; Ruiterkamp-Versteeg, Martina; de Leeuw, Nicole; Ockeloen, Charlotte W; Pfundt, Rolph; de Boer, Elke; Kummeling, Joost; van Bon, Bregje; van Bokhoven, Hans; Kasri, Nael Nadif; Venselaar, Hanka; Alders, Marielle; Kerkhof, Jennifer; McConkey, Haley; Kuechler, Alma; Elffers, Bart; van Beeck Calkoen, Rixje; Hofman, Susanna; Smith, Audrey; Valenzuela, Maria Irene; Srivastava, Siddharth; Frazier, Zoe; Maystadt, Isabelle; Piscopo, Carmelo; Merla, Giuseppe; Balasubramanian, Meena; Santen, Gijs W E; Metcalfe, Kay; Park, Soo-Mi; Pasquier, Laurent; Banka, Siddharth; Donnai, Dian; Weisberg, Daniel; Strobl-Wildemann, Gertrud; Wagemans, Annemieke; Vreeburg, Maaike; Baralle, Diana; Foulds, Nicola; Scurr, Ingrid; Brunetti-Pierri, Nicola; van Hagen, Johanna M; Bijlsma, Emilia K; Hakonen, Anna H; Courage, Carolina; Genevieve, David; Pinson, Lucile; Forzano, Francesca; Deshpande, Charu; Kluskens, Maria L; Welling, Lindsey; Plomp, Astrid S; Vanhoutte, Els K; Kalsner, Louisa; Hol, Janna A; Putoux, Audrey; Lazier, Johanna; Vasudevan, Pradeep; Ames, Elizabeth; O'Shea, Jessica; Lederer, Damien; Fleischer, Julie; O'Connor, Mary; Pauly, Melissa; Vasileiou, Georgia; Reis, André; Kiraly-Borri, Catherine; Bouman, Arjan; Barnett, Chris; Nezarati, Marjan; Borch, Lauren; Beunders, Gea; Özcan, Kübra; Miot, Stéphanie; Volker-Touw, Catharina M L; van Gassen, Koen L I; Cappuccio, Gerarda; Janssens, Katrien; Mor, Nofar; Shomer, Inna; Dominissini, Dan; Tedder, Matthew L; Muir, Alison M; Sadikovic, Bekim; Brunner, Han G; Vissers, Lisenka E L M; Shinkai, Yoichi; Kleefstra, Tjitske
Rots, D, Bouman, A, Yamada, A, Levy, M, Dingemans, A J M, de Vries, B B A, Ruiterkamp-Versteeg, M, de Leeuw, N, Ockeloen, C W, Pfundt, R, de Boer, E, Kummeling, J, van Bon, B, van Bokhoven, H, Kasri, N N, Venselaar, H, Alders, M, Kerkhof, J, McConkey, H, Kuechler, A, Elffers, B, van Beeck Calkoen, R, Hofman, S, Smith, A, Valenzuela, M I , Srivastava, S, Frazier, Z, Maystadt, I , Piscopo, C, Merla, G, Balasubramanian, M, Santen, G W E, Metcalfe, K, Park, S-M, Pasquier, L , Banka, S, Donnai, D, Weisberg, D, Strobl-Wildemann, G, Wagemans, A, Vreeburg, M, Baralle, D, Foulds, N, Scurr, I , Brunetti-Pierri, N, van Hagen, J M, Bijlsma, E K, Hakonen, A H, Courage, C, Genevieve, D, Pinson, L , Forzano, F, Deshpande, C, Kluskens, M L , Welling, L , Plomp, A S, Vanhoutte, E K, Kalsner, L , Hol, J A, Putoux, A, Lazier, J, Vasudevan, P, Ames, E, O'Shea, J, Lederer, D, Fleischer, J, O'Connor, M, Pauly, M, Vasileiou, G, Reis, A, Kiraly-Borri, C, Bouman, A, Barnett, C, Nezarati, M, Borch, L , Beunders, G, Özcan, K B, Miot, S, Volker-Touw, C M L , van Gassen , K L I , Cappuccio, G, Janssens, K, Mor, N, Shomer, I , Dominissini, D, Tedder, M L , Muir, A M, Sadikovic, B, Brunner, H G, Vissers, L E L M, Shinkai, Y & Kleefstra, T 2024, 'Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome', American journal of human genetics, vol. 111, no. 8, pp. 1605-1625. https://doi.org/10.1016/j.ajhg.2024.06.008
American Journal of Human Genetics, 111, 8, pp. 1605-1625
The American journal of human genetics
Rots, D, Bouman, A, Yamada, A, Levy, M, Dingemans, A J M, de Vries, B B A, Ruiterkamp-Versteeg, M, de Leeuw, N, Ockeloen, C W, Pfundt, R, de Boer, E, Kummeling, J,van Bon, B, van Bokhoven, H, Kasri, N N, Venselaar, H, Alders, M, Kerkhof, J, McConkey, H, Kuechler, A, Elffers, B, van Beeck Calkoen, R, Hofman, S, Valenzuela, M I , Srivastava, S, Frazier, Z, Maystadt, I , Piscopo, C, Merla, G, Balasubramanian, M, Santen, G W E, Metcalfe, K, Park, S-M, Pasquier, L , Banka, S, Donnai, D, Weisberg, D, Strobl-Wildemann, G, Wagemans, A, Vreeburg, M, Baralle, D, Foulds, N, Scurr, I , Brunetti-Pierri, N, van Hagen, J M, Bijlsma, E K, Hakonen, A H, Courage, C, Genevieve, D, Pinson, L , Forzano, F, Deshpande, C, Kluskens, M L , Welling, L , Plomp, A S, Vanhoutte, E K, Kalsner, L , Hol, J A, Putoux, A, Lazier, J, Vasudevan, P, Ames, E, O'Shea, J, Lederer, D, Fleischer, J, Pauly, M, Vasileiou, G, Reis, A, Kiraly-Borri, C, Bouman, A, Barnett, C, Nezarati, M, Borch, L , Beunders, G, Özcan, K, Miot, S, Volker-Touw, C M L , van Gassen , K L I , Cappuccio, G, Janssens, K, Mor, N, Shomer, I , Dominissini, D, Tedder, M L , Sadikovic, B, Brunner, H G, Vissers, L E L M, Shinkai, Y & Kleefstra, T 2024, 'Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome', American Journal of Human Genetics, vol. 111, no. 8, pp. 1605-1625. https://doi.org/10.1016/j.ajhg.2024.06.008
American Journal of Human Genetics, 111, 8, pp. 1605-1625
The American journal of human genetics
Rots, D, Bouman, A, Yamada, A, Levy, M, Dingemans, A J M, de Vries, B B A, Ruiterkamp-Versteeg, M, de Leeuw, N, Ockeloen, C W, Pfundt, R, de Boer, E, Kummeling, J,
Academic Journal
Mark Stevenson; Asha L. Bayliss; Victoria J. Stokes; Katherine A. English; Kreepa G. Kooblall; Roman Fischer; Raphael Heilig; Iolanda Vendrell; Maria E. W. A. Albers; Meghan Bartos; Amber Begtrup; Alexia Bourgois; Rebecca Buchert; David J. Carey; Deanna A. Carere; Amanda Carnevale; Kristl G. Claeys; Benjamin Cogne; Gregory Costain; Nicole de Leeuw; Anne-Sophie Denommé-Pichon; Elizabeth J. Donner; Eftychia Drogouti; David A. Dyment; Balram Gangaram; Tobias B. Haack; Jeremy S. Haley; Solveig Heide; Ralf A. Husain; Bertrand Isidor; Louise Izatt; Adeline Jacquinet; Jane Juusola; Juliette J. Kahle; Boris Keren; Eric W. Klee; Evgenia Kokosali; Brendan C. Lanpher; Erica L. Macke; Elysa J. Marco; Kirsty McWalter; Bryce A. Mendelsohn; Aubrey Milunsky; Matthew Osmond; Amelie Piton; Angelika Riess; Valentin Ruault; Patrick Rump; Sarah Schuhmann; Amelle L. Shillington; Diane T. Smelser; Lot Snijders Blok; Frederic Tran Mau-Them; Christos Tsakalidis; Abigail Turnwald; Koen L. I. Van Gassen; Kristof Van Schil; Georgia Vasileiou; Marissa Vawter-Lee; Marjolaine Willems; Marjolein H. Willemsen; Lily C. Wong-Kisiel; Antje Wonneberger; Ioannis Zaganas; Fadil M. Hannan; Kate E. Lines; Rajesh V. Thakker
Academic Journal
Sébastien Küry; Janelle E. Stanton; Geeske van Woerden; Tzung-Chien Hsieh; Cory Rosenfelt; Marie Pier Scott-Boyer; Victoria Most; Tianyun Wang; Jonas Johannes Papendorf; Charlotte de Konink; Wallid Deb; Virginie Vignard; Maja Studencka-Turski; Thomas Besnard; Anna Marta Hajdukowicz; Franziska Thiel; Sophie Möller; Laëtitia Florenceau; Silvestre Cuinat; Sylvain Marsac; Ingrid Wentzensen; Annabelle Tuttle; Cara Forster; Johanna Striesow; Richard Golnik; Damara Ortiz; Laura Jenkins; Jill A. Rosenfeld; Alban Ziegler; Clara Houdayer; Dominique Bonneau; Erin Torti; Amber Begtrup; Kristin G. Monaghan; Sureni V. Mullegama; C.M.L. (Nienke) Volker-Touw; Koen L. I. van Gassen; Renske Oegema; Mirjam de Pagter; Katharina Steindl; Anita Rauch; Ivan Ivanovski; Kimberly McDonald; Emily Boothe; Andrew Dauber; Janice Baker; Noelle Andrea V Fabie; Raphael A. Bernier; Tychele N. Turner; Siddharth Srivastava; Kira A. Dies; Lindsay Swanson; Carrie Costin; Rebekah K. Jobling; John Pappas; Rachel Rabin; Dmitriy Niyazov; Anne Chun-Hui Tsai; Karen Kovak; David B. Beck; MCV Malicdan; David R. Adams; Lynne Wolfe; Rebecca D. Ganetzky; Colleen Muraresku; Davit Babikyan; Zdeněk Sedláček; Miroslava Hančárová; Andrew T. Timberlake; Hind Al Saif; Berkley Nestler; Kayla King; MJ Hajianpour; Gregory Costain; D’Arcy Prendergast; Chumei Li; David Geneviève; Antonio Vitobello; Arthur Sorlin; Christophe Philippe; Tamar Harel; Ori Toker; Ataf Sabir; Derek Lim; Mark Hamilton; Lisa Bryson; Elaine Cleary; Sacha Weber; Trevor L. Hoffman; Anna Maria Cueto-González; Eduardo Fidel Tizzano; David Gómez-Andrés; Marta Codina-Solà; Athina Ververi; Efterpi Pavlidou; Alexandros Lambropoulos; Kyriakos Garganis; Marlène Rio; Jonathan Levy; Sarah Jurgensmeyer; Anne M. McRae; Mathieu Kent Lessard; Maria Daniela D’Agostino; Isabelle De Bie; Meret Wegler; Rami Abou Jamra; Susanne B. Kamphausen; Viktoria Bothe; Larissa M. Busch; Uwe Völker; Elke Hammer; Kristian Wende; Benjamin Cogné; Bertrand Isidor; Jens Meiler; Amélie Bosc-Rosati; Julien Marcoux; Marie-Pierre Bousquet; Jeremie Poschmann; Frédéric Laumonnier; Peter W. Hildebrand; Evan E. Eichler; Kirsty McWalter; Peter M. Krawitz; Arnaud Droit; Ype Elgersma; Andreas M. Grabrucker; Francois V. Bolduc; Stéphane Bézieau; Frédéric Ebstein; Elke Krüger
Academic Journal
Margot A. Cousin; Blake A. Creighton; Keith A. Breau; Rebecca C. Spillmann; Erin Torti; Sruthi Dontu; Swarnendu Tripathi; Deepa Ajit; Reginald J. Edwards; Simone Afriyie; Julia C. Bay; Kathryn M. Harper; Alvaro A. Beltran; Lorena J. Munoz; Liset Falcon Rodriguez; Michael C. Stankewich; Richard E. Person; Yue Si; Elizabeth A. Normand; Amy Blevins; Alison S. May; Louise Bier; Vimla Aggarwal; Grazia M. S. Mancini; Marjon A. van Slegtenhorst; Kirsten Cremer; Jessica Becker; Hartmut Engels; Stefan Aretz; Jennifer J. MacKenzie; Eva Brilstra; Koen L. I. van Gassen; Richard H. van Jaarsveld; Renske Oegema; Gretchen M. Parsons; Paul Mark; Ingo Helbig; Sarah E. McKeown; Robert Stratton; Benjamin Cogne; Bertrand Isidor; Pilar Cacheiro; Damian Smedley; Helen V. Firth; Tatjana Bierhals; Katja Kloth; Deike Weiss; Cecilia Fairley; Joseph T. Shieh; Amy Kritzer; Parul Jayakar; Evangeline Kurtz-Nelson; Raphael A. Bernier; Tianyun Wang; Evan E. Eichler; Ingrid M. B. H. van de Laar; Allyn McConkie-Rosell; Marie T. McDonald; Jennifer Kemppainen; Brendan C. Lanpher; Laura E. Schultz-Rogers; Lauren B. Gunderson; Pavel N. Pichurin; Grace Yoon; Michael Zech; Robert Jech; Juliane Winkelmann; Adriana S. Beltran; Michael T. Zimmermann; Brenda Temple; Sheryl S. Moy; Eric W. Klee; Queenie K.-G. Tan; Damaris N. Lorenzo
Nat Genet
Nat. Genet. 53, 1006-1021 (2021)
Nat. Genet. 53, 1006-1021 (2021)
Academic Journal
Mitsuko Nakashima; Mitsuhiro Kato; Masaru Matsukura; Ryutaro Kira; Lock-Hock Ngu; Klaske D. Lichtenbelt; Koen L. I. van Gassen; Satomi Mitsuhashi; Hirotomo Saitsu; Naomichi Matsumoto
Journal of Human Genetics. 65:727-734
Academic Journal
Madelyn A. Gillentine; Tianyun Wang; Kendra Hoekzema; Jill Rosenfeld; Pengfei Liu; Hui Guo; Chang N. Kim; Bert B. A. De Vries; Lisenka E. L. M. Vissers; Magnus Nordenskjold; Malin Kvarnung; Anna Lindstrand; Ann Nordgren; Jozef Gecz; Maria Iascone; Anna Cereda; Agnese Scatigno; Silvia Maitz; Ginevra Zanni; Enrico Bertini; Christiane Zweier; Sarah Schuhmann; Antje Wiesener; Micah Pepper; Heena Panjwani; Erin Torti; Farida Abid; Irina Anselm; Siddharth Srivastava; Paldeep Atwal; Carlos A. Bacino; Gifty Bhat; Katherine Cobian; Lynne M. Bird; Jennifer Friedman; Meredith S. Wright; Bert Callewaert; Florence Petit; Sophie Mathieu; Alexandra Afenjar; Celenie K. Christensen; Kerry M. White; Orly Elpeleg; Itai Berger; Edward J. Espineli; Christina Fagerberg; Charlotte Brasch-Andersen; Lars Kjærsgaard Hansen; Timothy Feyma; Susan Hughes; Isabelle Thiffault; Bonnie Sullivan; Shuang Yan; Kory Keller; Boris Keren; Cyril Mignot; Frank Kooy; Marije Meuwissen; Alice Basinger; Mary Kukolich; Meredith Philips; Lucia Ortega; Margaret Drummond-Borg; Mathilde Lauridsen; Kristina Sorensen; Anna Lehman; CAUSES Study; Elena Lopez-Rangel; Paul Levy; Davor Lessel; Timothy Lotze; Suneeta Madan-Khetarpal; Jessica Sebastian; Jodie Vento; Divya Vats; L. Manace Benman; Shane Mckee; Ghayda M. Mirzaa; Candace Muss; John Pappas; Hilde Peeters; Corrado Romano; Maurizio Elia; Ornella Galesi; Marleen E. H. Simon; Koen L. I. van Gassen; Kara Simpson; Robert Stratton; Sabeen Syed; Julien Thevenon; Irene Valenzuela Palafoll; Antonio Vitobello; Marie Bournez; Laurence Faivre; Kun Xia; SPARK Consortium; Rachel K. Earl; Tomasz Nowakowski; Raphael A. Bernier; Evan E. Eichler
Genome Medicine, Vol 13, Iss 1, Pp 1-26 (2021)
Academic Journal
Kummeling, Joost; Stremmelaar, Diante E.; Raun, Nicholas; Reijnders, Margot R. F.; Willemsen, Marjolein H.; Ruiterkamp-Versteeg, Martina; Schepens, Marga; Man, Calvin C. O.; Gilissen, Christian; Cho, Megan T.; McWalter, Kirsty; Sinnema, Margje; Wheless, James W.; Simon, Marleen E. H.; Genetti, Casie A.; Casey, Alicia M.; Terhal, Paulien A.; van der Smagt, Jasper J.; van Gassen, Koen L. I.; Joset, Pascal; Bahr, Angela; Steindl, Katharina; Rauch, Anita; Keller, Elmar; Raas-Rothschild, Annick; Koolen, David A.; Agrawal, Pankaj B.; Hoffman, Trevor L.; Powell-Hamilton, Nina N.; Thiffault, Isabelle; Engleman, Kendra; Zhou, Dihong; Bodamer, Olaf; Hoefele, Julia; Riedhammer, Korbinian M.; Schwaibold, Eva M. C.; Tasic, Velibor; Schubert, Dirk; Top, Deniz; Pfundt, Rolph; Higgs, Martin R.; Kramer, Jamie M.; Kleefstra, Tjitske
Molecular Psychiatry. 26(6):2013-2024
Academic Journal
Klöckner, Chiara; Sticht, Heinrich; Zacher, Pia; Popp, Bernt; Babcock, Holly E.; Bakker, Dewi P.; Barwick, Katy; Bonfert, Michaela V.; Bönnemann, Carsten G.; Brilstra, Eva H.; Chung, Wendy K.; Clarke, Angus J.; Devine, Patrick; Donkervoort, Sandra; Fraser, Jamie L.; Friedman, Jennifer; Gates, Alyssa; Ghoumid, Jamal; Hobson, Emma; Horvath, Gabriella; Keller-Ramey, Jennifer; Keren, Boris; Kurian, Manju A.; Lee, Virgina; Leppig, Kathleen A.; Lundgren, Johan; McDonald, Marie T.; McLaughlin, Heather M.; McTague, Amy; Mefford, Heather C.; Mignot, Cyril; Mikati, Mohamad A.; Nava, Caroline; Raymond, F. Lucy; Sampson, Julian R.; Sanchis-Juan, Alba; Shashi, Vandana; Shieh, Joseph T. C.; Shinawi, Marwan; Slavotinek, Anne; Stödberg, Tommy; Stong, Nicholas; Sullivan, Jennifer A.; Taylor, Ashley C.; Toler, Tomi L.; van den Boogaard, Marie-José; van der Crabben, Saskia N.; van Gassen, Koen L. I.; van Jaarsveld, Richard H.; Van Ziffle, Jessica; Wadley, Alexandrea F.; Wagner, Matias; Wigby, Kristen; Wortmann, Saskia B.; Zarate, Yuri A.; Møller, Rikke S.; Lemke, Johannes R.; Platzer, Konrad
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(4):653-660
Academic Journal
Willemijn F. E. Kuper; Claudia van Alfen; Linda van Eck; Stella A. de Man; Marjolein H. Willemsen; Koen L. I. van Gassen; Monique Losekoot; Peter M. van Hasselt
JIMD Rep
JIMD Reports, Vol 52, Iss 1, Pp 23-27 (2020)
Jimd Reports, 52, 1, pp. 23-27
JIMD Reports, Vol 52, Iss 1, Pp 23-27 (2020)
Jimd Reports, 52, 1, pp. 23-27
Academic Journal
Blok, Lot Snijders; Kleefstra, Tjitske; Venselaar, Hanka; Maas, Saskia; Kroes, Hester Y.; Lachmeijer, Augusta M. A.; van Gassen, Koen L., I; Firth, Helen, V; Tomkins, Susan; Bodek, Simon; Study, The D. D. D.; Ounap, Katrin; Wojcik, Monica H.; Cunniff, Christopher; Bergstrom, Katherine; Powis, Zoe; Tang, Sha; Shinde, Deepali N.; Au, Catherine; Iglesias, Alejandro D.; Izumi, Kosuke; Leonard, Jacqueline; Abou Tayoun, Ahmad; Baker, Samuel W.; Tartaglia, Marco; Niceta, Marcello; Dentici, Maria Lisa; Okamoto, Nobuhiko; Miyake, Noriko; Matsumoto, Naomichi; Vitobello, Antonio; Faivre, Laurence; Philippe, Christophe; Gilissen, Christian; Wiel, Laurens; Pfundt, Rolph; Deriziotis, Pelagia; Brunner, Han G.; Fisher, Simon E.
The American Journal of Human Genetics
American Journal of Human Genetics, 105, 2, pp. 403-412
American Journal of Human Genetics, 105, 2, pp. 403-412
Academic Journal
Paul Kruszka; Tommy Hu; Sungkook Hong; Rebecca Signer; Benjamin Cogné; Betrand Isidor; Sarah E. Mazzola; Jacques C. Giltay; Koen L. I. van Gassen; Eleina M. England; Lynn Pais; Charlotte W. Ockeloen; Pedro A. Sanchez‐Lara; Esther Kinning; Darius J. Adams; Kayla Treat; Wilfredo Torres‐Martinez; Maria F. Bedeschi; Maria Iascone; Stephanie Blaney; Oliver Bell; Tiong Y. Tan; Marie‐Ange Delrue; Julie Jurgens; Brenda J. Barry; Elizabeth C. Engle; Sarah K. Savage; Nicole Fleischer; Julian A. Martinez‐Agosto; Kym Boycott; Elaine H. Zackai; Maximilian Muenke
American Journal of Medical Genetics. Part A, 179, 10, pp. 2075-2082
Academic Journal
Maddirevula, Sateesh; Shagrani, Mohammad; Ji, Ae-Ri; Horne, Christopher R.; Young, Samuel N.; Mather, Lucy J.; Alqahtani, Mashael; McKerlie, Colin; Wood, Geoffrey; Potter, Paul K.; Abdulwahab, Firdous; AlSheddi, Tarfa; van der Woerd, Wendy L.; van Gassen, Koen L. I.; Albogami, Dalal; Kumar, Kishwer; Akhtar, Ali Syed Muhammad; Binomar, Hiba; Almanea, Hadeel; Faqeih, Eissa; Fuchs, Sabine A.; Scott, John W.; Murphy, James M.; Alkuraya, Fowzan S.
Academic Journal
Terhal, Paulien A; Vlaar, Judith M; Middelkamp, Sjors; Nievelstein, Rutger A J; Nikkels, Peter G J; Ross, Jamila; Créton, Marijn; Bos, Jeroen W; Voskuil-Kerkhof, Elsbeth S M; Cuppen, Edwin; Knoers, Nine; van Gassen, Koen L I
European Journal of Human Genetics. 28:31-39
Academic Journal
Fuchs, Sabine A.; Schene, Imre F.; Kok, Gautam; Jansen, Jurriaan M.; Nikkels, Peter G. J.; van Gassen, Koen L. I.; Terheggen-Lagro, Suzanne W. J.; van der Crabben, Saskia N.; Hoeks, Sanne E.; Niers, Laetitia E. M.; Wolf, Nicole I.; de Vries, Maaike C.; Koolen, David A.; Houwen, Roderick H. J.; Mulder, Margot F.; van Hasselt, Peter M.
Genet Med
Fuchs, S A, Schene,I F, Kok, G, Jansen, J M, Nikkels, P G J, van Gassen , K L I , Terheggen-Lagro, S W J, van der Crabben, S N, Hoeks, S E, Niers, L E M, Wolf, N I , de Vries, M C, Koolen, D A, Houwen, R H J, Mulder, M F & van Hasselt, P M 2019, 'Aminoacyl-tRNA synthetase deficiencies in search of common themes', Genetics in Medicine, vol. 21, no. 2, pp. 319-330. https://doi.org/10.1038/s41436-018-0048-y
Genetics in Medicine, 21, 2, pp. 319-330
Fuchs, S A, Schene,
Genetics in Medicine, 21, 2, pp. 319-330
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