부산대학교 도서관

Callewaert, Benjamin; Vandevelde, Simon; Vennekens, Joost

EPTCS 439, 2026, pp. 47-62

Callewaert, Benjamin; Vennekens, Joost

Vandevelde, Simon; Callewaert, Benjamin; Vennekens, Joost

Proceedings of the 26th ACM International Systems and Software Product Line Conference - Volume B. :209-216

Callewaert, Benjamin; Vennekens, Joost

Theory and Practice of Logic Programming. 24:453-481

Mak, Christopher C.Y. ; Klinkhammer, Hannah ; Choufani, Sanaa ; Reko, Nikola ; Christman, Angela K. ; Pisan, Elise ; Chui, Martin M.C. ; Lee, Mianne ; Leduc, Fiona ; Dempsey, Jennifer C. ; Sanchez-Lara, Pedro A. ; Bombei, Hannah M. ; Bernat, John A. ; Faivre, Laurence ; Mau-Them, Frederic Tran ; Palafoll, Irene Valenzuela ; Canham, Natalie ; Sarkar, Ajoy ; Zarate, Yuri A. ; Callewaert, Bert ; Bukowska-Olech, Ewelina ; Jamsheer, Aleksander ; Zankl, Andreas ; Willems, Marjolaine ; Duncan, Laura ; Isidor, Bertrand ; Cogne, Benjamin ; Boute, Odile ; Vanlerberghe, Clémence ; Goldenberg, Alice ; Stolerman, Elliot ; Low, Karen J. ; Gilard, Vianney ; Amiel, Jeanne ; Lin, Angela E. ; Gordon, Christopher T. ; Doherty, Dan ; Krawitz, Peter M. ; Weksberg, Rosanna ; Hsieh, Tzung-Chien ; Chung, Brian H.Y.

In eBioMedicine May 2025 115

Hespe, Sophie; Singer, Emma S.; Reuter, Chloe; Murray, Brittney; Jordan, Elizabeth; Chowns, Jessica; Peters, Stacey; Mayers, Megan; Gray, Belinda; Hershberger, Ray E.; Owens, Anjali; Semsarian, Christopher; Waddell, Amber; Asatryan, Babken; Owens, Emma; Thaxton, Courtney; Adduru, Mhy-Lanie; Anderson, Kailyn; Brown, Emily E.; Hoffman-Andrews, Lily; Stafford, Fergus; Bagnall, Richard D.; Bronicki, Lucas; Callewaert, Bert; Chahal, C. Anwar A.; James, Cynthia A.; Jarinova, Olga; Landstrom, Andrew P.; McNally, Elizabeth M.; Muiño-Mosquera, Laura; Parikh, Victoria; Walsh, Roddy; Wayburn, Bess; Ware, James S.; Parker, Benjamin L.; Porrello, Enzo R.; Elliott, David A.; McNamara, James W.; Ingles, Jodie

Circulation: Genomic and Precision Medicine. Apr 21, 2025

Callewaert, Benjamin; Vandevelde, Simon; Coppens, Bart; Comenda, Nuno; Decleyre, Nicholas; Vennekens, Joost

Proceedings of the Annual Hawaii International Conference on System Sciences.

Vera, Gabriella ; Sorlin, Arthur ; Delplancq, Geoffroy ; Lecoquierre, François ; Brasseur-Daudruy, Marie ; Petit, Florence ; Smol, Thomas ; Ziegler, Alban ; Bonneau, Dominique ; Colin, Estelle ; Mercier, Sandra ; Cogné, Benjamin ; Bézieau, Stéphane ; Edery, Patrick ; Lesca, Gaetan ; Chatron, Nicolas ; Sabatier, Isabelle ; Duban-Bedu, Bénédicte ; Colson, Cindy ; Piton, Amélie ; Durand, Benjamin ; Capri, Yline ; Perrin, Laurence ; Wiesener, Antje ; Zweier, Christiane ; Maroofian, Reza ; Carroll, Christopher J. ; Galehdari, Hamid ; Mazaheri, Neda ; Callewaert, Bert ; Giulianno, Fabienne ; Zaafrane-Khachnaoui, Khaoula ; Buchert-Lo, Rebecca ; Haack, Tobias ; Magg, Janine ; Rieß, Angelika ; Blandfort, Maria ; Waldmüller, Stephan ; Horber, Veronka ; Leonardi, Emanuela ; Polli, Roberta ; Turolla, Licia ; Murgia, Alessandra ; Frebourg, Thierry ; Lebre, Anne Sophie ; Nicolas, Gaël ; Saugier-Veber, Pascale ; Guerrot, Anne-Marie

In European Journal of Medical Genetics October 2020 63(10)

Coursimault, Juliette; Guerrot, Anne-Marie; Morrow, Michelle M.; Schramm, Catherine; Zamora, Francisca Millan; Shanmugham, Anita; Liu, Shuxi; Zou, Fanggeng; Bilan, Frédéric; Le Guyader, Gwenaël; Bruel, Ange-Line; Denommé-Pichon, Anne-Sophie; Faivre, Laurence; Tran Mau-Them, Frédéric; Tessarech, Marine; Colin, Estelle; El Chehadeh, Salima; Gérard, Bénédicte; Schaefer, Elise; Cogne, Benjamin; Isidor, Bertrand; Nizon, Mathilde; Doummar, Diane; Valence, Stéphanie; Héron, Delphine; Keren, Boris; Mignot, Cyril; Coutton, Charles; Devillard, Françoise; Alaix, Anne-Sophie; Amiel, Jeanne; Colleaux, Laurence; Munnich, Arnold; Poirier, Karine; Rio, Marlène; Rondeau, Sophie; Barcia, Giulia; Callewaert, Bert; Dheedene, Annelies; Kumps, Candy; Vergult, Sarah; Menten, Björn; Chung, Wendy K.; Hernan, Rebecca; Larson, Austin; Nori, Kelly; Stewart, Sarah; Wheless, James; Kresge, Christina; Pletcher, Beth A.; Caumes, Roseline; Smol, Thomas; Sigaudy, Sabine; Coubes, Christine; Helm, Margaret; Smith, Rosemarie; Morrison, Jennifer; Wheeler, Patricia G.; Kritzer, Amy; Jouret, Guillaume; Afenjar, Alexandra; Deleuze, Jean-François; Olaso, Robert; Boland, Anne; Poitou, Christine; Frebourg, Thierry; Houdayer, Claude; Saugier-Veber, Pascale; Nicolas, Gaël; Lecoquierre, François

Human Genetics. 141(1):65-80

Li, Dong; March, Michael E.; Fortugno, Paola; Cox, Liza L.; Matsuoka, Leticia S.; Monetta, Rosanna; Seiler, Christoph; Pyle, Louise C.; Bedoukian, Emma C.; Sánchez-Soler, María José; Caluseriu, Oana; Grand, Katheryn; Tam, Allison; Aycinena, Alicia R. P.; Camerota, Letizia; Guo, Yiran; Sleiman, Patrick; Callewaert, Bert; Kumps, Candy; Dheedene, Annelies; Buckley, Michael; Kirk, Edwin P.; Turner, Anne; Kamien, Benjamin; Patel, Chirag; Wilson, Meredith; Roscioli, Tony; Christodoulou, John; Cox, Timothy C.; Zackai, Elaine H.; Brancati, Francesco; Hakonarson, Hakon; Bhoj, Elizabeth J.

Human Genetics. :1-16

Vandevelde, Simon; Callewaert, Benjamin; Vennekens, joost

Proceedings of the Annual Hawaii International Conference on System Sciences.

Bita Salamat; Sara B. Stephens; Jolie J. Britt; Taylor Beecroft‐Dawson; Andrea Taylor; Laura Muiño Mosquera; Bert Callewaert; Aude Beyens; Alexandra Channing; Michael P. Dilorenzo; Justin Weigand; Benjamin Jacob; Eudice Fontenot; Shaine A. Morris

American Journal of Medical Genetics Part A. 197

Sophie Hespe; Emma S. Singer; Chloe Reuter; Brittney Murray; Elizabeth Jordan; Jessica Chowns; Stacey Peters; Megan Mayers; Belinda Gray; Ray E. Hershberger; Anjali T. Owens; Christopher Semsarian; Amber Waddell; Babken Asatryan; Emma Owens; Courtney Thaxton; Mhy-Lanie Adduru; Kailyn Anderson; Emily E. Brown; Lily Hoffman-Andrews; Fergus Stafford; Richard D. Bagnall; Lucas Bronicki; Bert Callewaert; C. Anwar A. Chahal; Cynthia A. James; Olga Jarinova; Andrew P. Landstrom; Elizabeth M. McNally; Laura Muiño-Mosquera; Victoria Parikh; Roddy Walsh; Bess Wayburn; James S. Ware; Benjamin L. Parker; Enzo R. Porrello; David A. Elliott; James W. McNamara; Jodie Ingles

Circulation: Genomic and Precision Medicine. 18

Benjamin Callewaert; Nicholas Decleyre; Simon Vandevelde; Nuno Comenda; Bart Coppens; Joost Vennekens

2023 IEEE Symposium Series on Computational Intelligence (SSCI). :103-108

Sheppard, Sarah E.; Bryant, Laura; Wickramasekara, Rochelle N.; Vaccaro, Courtney; Robertson, Brynn; Hallgren, Jodi; Hulen, Jason; Watson, Cynthia J.; Faundes, Victor; Duffourd, Yannis; Lee, Pearl; Simon, M. Celeste; de la Cruz, Xavier; Padilla, Natalia; Flores-Mendez, Marco; Akizu, Naiara; Smiler, Jacqueline; Da Silva, Renata Pellegrino; Li, Dong; March, Michael; Diaz-Rosado, Abdias; de Barcelos, Isabella Peixoto; Choa, Zhao Xiang; Lim, Chin Yan; Dubourg, Christele; Journel, Hubert; Demurger, Florence; Mulhern, Maureen; Akman, Cigdem; Lippa, Natalle; Andrews, Marisa; Baldridge, Dustin; Constantino, John; Rauch, Anita; van Haeingen, Arie; Snoeck-Streef, Irina; Chow, Penny; Hing, Anne; Graham, John M.; Au, Margaret; Falvre, Laurence; Shen, Wel; Mao, Rong; Palumbos, Janice; Viskochil, David; Gahl, William; Tifft, Cynthia; Macnamara, Ellen; Hauser, Natalie; Miller, Rebecca; Maffeo, Jessica; Afenjar, Alexandra; Doummar, Diane; Keren, Boris; Arn, Pamela; Mackllin-Mantla, Sarah; Meerschaut, Ilse; Callewaert, Bert; Rels, Andre; Zweler, Christiane; Brewer, Carole; Saggar, Anand; Smeland, Marie F.; Kumar, Ajith; Elmslie, Frances; Deshpande, Charu; Nizon, Mathilde; Cogne, Benjamin; van Ierland, Yvette; Wilke, Martina; van Slegtenhorst, Marjon; Koudijs, Suzanne; Chen, Jin Yun; Dredge, David; Pler, Danielle; Wortmann, Saskia; Kamsteeg, Erik-Jann; Koch, Johannes; Haynes, Devon; Pollack, Lynda; Titheradge, Hannah; Ranguin, Kara; Denomme-Pichon, Anne-Sophie; Weber, Sacha; de la Fuente, Ruben Perez; del Pozo, Jaime Sanchez; Rosales, Jose Miguel Lezana; Joset, Pascal; Steindl, Katharina; Rauch, Ani; Mei, Davide; Mari, Francesco; Guerrini, Renzo; Lespinasse, James; Mau-Then, Frederic Tran; Philippe, Christophe; Dauriat, Benjamin; Raymond, Laure; Moutton, Sebastien; Cueto-Gonzalez, Anna M.; Tan, Tiong Yang; Mignot, Cyril; Grotto, Sarah; Renaldo, Florence; Drivas, Theodore G.; Hennessy, Laura; Raper, Anna; Parenti, Ilaria; Kaiser, Frank J.; Kuechler, Alma; Busk, Oyvind L.; Islam, Lily; Siedlik, Jacob A.; Henderson, Lindsay B.; Juusola, Jane; Person, Richard; Schnur, Rhonda E.; Vitobello, Antonio; Banka, Siddharth; Bhoj, Elizabeth J.; Stessman, Holly A. F.

Sci Adv
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
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Science Advances, 9, 10, pp. eade1463
Sheppard, Sarah E; Bryant, Laura; Wickramasekara, Rochelle N; Vaccaro, Courtney; Robertson, Brynn; Hallgren, Jodi; Hulen, Jason; Watson, Cynthia J; Faundes, Victor; Duffourd, Yannis; Lee, Pearl; Simon, M Celeste; de la Cruz, Xavier; Padilla, Natália; Flores-Mendez, Marco; Akizu, Naiara; Smiler, Jacqueline; Pellegrino Da Silva, Renata; Li, Dong; March, Michael; ... (2023). Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Science Advances, 9(10), eade1463. American Association for the Advancement of Science 10.1126/sciadv.ade1463
Sheppard, S E, Bryant, L, Wickramasekara, R N, Vaccaro, C, Robertson, B, Hallgren, J, Hulen, J, Watson, C J, Faundes, V, Duffourd, Y, Lee, P, Simon, M C, de la Cruz, X, Padilla, N, Flores-Mendez, M, Akizu, N, Smiler, J, Pellegrino Da Silva, R, Li, D, March, M, Diaz-Rosado, A, Peixoto de Barcelos, I, Choa, Z X, Dubourg, C, Journel, H, Demurger, F, Mulhern, M, Akman, C, Lippa, N, Andrews, M, Baldridge, D, Constantino, J, van Haeringen, A, Snoeck-Streef, I, Chow, P, Hing, A, Graham, J M, Au, M, Faivre, L, Mao, R, Palumbos, J, Viskochil, D, Gahl, W, Tifft, C, Macnamara, E, Hauser, N, Miller, R, Maffeo, J, Afenjar, A, Doummar, D, Keren, B, Arn, P, Macklin-Mantia, S, Meerschaut, I, Callewaert, B, Reis, A, Zweier, C, Brewer, C, Saggar, A, Smeland, M F, Kumar, A, Elmslie, F, Deshpande, C, Nizon, M, Cogne, B, van Ierland, Y, Wilke, M, van Slegtenhorst, M, Koudijs, S, Dredge, D, Pier, D, Wortmann, S, Kamsteeg, E-J, Koch, J, Haynes, D, Pollack, L, Titheradge, H, Ranguin, K, Denommé-Pichon, A-S, Weber, S, Pérez de la Fuente, R, Sánchez Del Pozo, J, Lezana Rosales, J M, Joset, P, Steindl, K, Rauch, A, Mei, D, Mari, F, Guerrini, R, Lespinasse, J, Tran Mau-Them, F, Philippe, C, Dauriat, B, Raymond, L, Moutton, S, Cueto-González, A M, Tan, T Y, Mignot, C, Grotto, S, Renaldo, F, Drivas, T G, Hennessy, L, Raper, A, Parenti, I, Kaiser, F J, Kuechler, A, Busk, Ø L, Islam, L, Siedlik, J A, Henderson, L B, Juusola, J, Person, R, Schnur, R E, Vitobello, A, Banka, S, Bhoj, E J & Stessman, H A F 2023, 'Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice', Science Advances, vol. 9, no. 10, eade1463. https://doi.org/10.1126/sciadv.ade1463
SCIENCE ADVANCES

Sarah E Sheppard; Laura Bryant; Rochelle N Wickramasekara; Courtney Vaccaro; Brynn Robertson; Jodi Hallgren; Jason Hulen; Cynthia J Watson; Victor Faundes; Yannis Duffourd; Pearl Lee; M Celeste Simon; Xavier de la Cruz; Natália Padilla; Marco Flores-Mendez; Naiara Akizu; Jacqueline Smiler; Renata Pellegrino Da Silva; Dong Li; Michael March; Abdias Diaz-Rosado; Isabella Peixoto de Barcelos; Zhao Xiang Choa; Chin Yan Lim; Christèle Dubourg; Hubert Journel; Florence Demurger; Maureen Mulhern; Cigdem Akman; Natalie Lippa; Marisa Andrews; Dustin Baldridge; John Constantino; Arie van Haeringen; Irina Snoeck-Streef; Penny Chow; Anne Hing; John M Graham Jr; Margaret Au; Laurence Faivre; Wei Shen; Rong Mao; Janice Palumbos; David Viskochil; William Gahl; Cynthia Tifft; Ellen Macnamara; Natalie Hauser; Rebecca Miller; Jessica Maffeo; Alexandra Afenjar; Diane Doummar; Boris Keren; Pamela Arn Sarah Macklin-Mantia; Ilse Meerschaut; Bert Callewaert; André Reis; Christiane Zweier; Carole Brewer; Anand Saggar; Marie F Smeland; Ajith Kumar; Frances Elmslie; Charu Deshpande; Mathilde Nizon; Benjamin Cogne; Yvette van Ierland; Martina Wilke; Marjon van Slegtenhorst; Suzanne Koudijs; Jin Yun Chen; David Dredge; Danielle Pier; Saskia Wortmann; Erik-Jan Kamsteeg; Johannes Koch; Devon Haynes; Lynda Pollack; Hannah Titheradge; Kara Ranguin; Anne-Sophie Denommé-Pichon; Sacha Weber; Rubén Pérez de la Fuente; Jaime Sánchez Del Pozo; Jose Miguel Lezana Rosales; Pascal Joset; Katharina Steindl; Anita Rauch; Davide Mei; Francesco Mari; Renzo Guerrini; James Lespinasse; Frédéric Tran Mau-Them; Christophe Philippe; Benjamin Dauriat; Laure Raymond; Sébastien Moutton; Anna M Cueto-González; Tiong Yang Tan; Cyril Mignot; Sarah Grotto; Florence Renaldo; Theodore G Drivas; Laura Hennessy; Anna Raper; Ilaria Parenti; Frank J Kaiser; Alma Kuechler; Øyvind L Busk; Lily Islam; Jacob A Siedlik; Lindsay B Henderson; Jane Juusola; Richard Person; Rhonda E Schnur; Antonio Vitobello; Siddharth Banka; Elizabeth J Bhoj; Holly A F Stessman

Claire Redin; Harrison Brand; Ryan L Collins; Tammy Kammin; Elyse Mitchell; Jennelle C Hodge; Carrie Hanscom; Vamsee Pillalamarri; Catarina M Seabra; Mary-Alice Abbott; Omar A Abdul-Rahman; Erika Aberg; Rhett Adley; Sofia L Alcaraz-Estrada; Fowzan S Alkuraya; Yu An; Mary-Anne Anderson; Caroline Antolik; Kwame Anyane-Yeboa; Joan F Atkin; Tina Bartell; Jonathan A Bernstein; Elizabeth Beyer; Ian Blumenthal; Ernie M H F Bongers; Eva H Brilstra; Chester W Brown; Hennie T Brüggenwirth; Bert Callewaert; Colby Chiang; Ken Corning; Helen Cox; Edwin Cuppen; Benjamin B Currall; Tom Cushing; Dezso David; Matthew A Deardorff; Annelies Dheedene; Marc D'Hooghe; Bert B A de Vries; Dawn L Earl; Heather L Ferguson; Heather Fisher; David R FitzPatrick; Pamela Gerrol; Daniela Giachino; Joseph T Glessner; Troy Gliem; Margo Grady; Brett H Graham; Cristin Griffis; Karen W Gripp; Andrea L Gropman; Andrea Hanson-Kahn; David J Harris; Mark A Hayden; Rosamund Hill; Ron Hochstenbach; Jodi D Hoffman; Robert J Hopkin; Monika W Hubshman; A Micheil Innes; Mira Irons; Melita Irving; Jessie C Jacobsen; Sandra Janssens; Tamison Jewett; John P Johnson; Marjolijn C Jongmans; Stephen G Kahler; David A Koolen; Jerome Korzelius; Peter M Kroisel; Yves Lacassie; William Lawless; Emmanuelle Lemyre; Kathleen Leppig; Alex V Levin; Haibo Li; Hong Li; Eric C Liao; Cynthia Lim; Edward J Lose; Diane Lucente; Michael J Macera; Poornima Manavalan; Giorgia Mandrile; Carlo L Marcelis; Lauren Margolin; Tamara Mason; Diane Masser-Frye; Michael W McClellan; Cinthya J Zepeda Mendoza; Björn Menten; Sjors Middelkamp; Liya R Mikami; Emily Moe; Shehla Mohammed; Tarja Mononen; Megan E Mortenson; Graciela Moya; Aggie W Nieuwint; Zehra Ordulu; Sandhya Parkash; Susan P Pauker; Shahrin Pereira; Danielle Perrin; Katy Phelan; Raul E Piña Aguilar; Pino J Poddighe; Giulia Pregno; Salmo Raskin; Linda Reis; William Rhead; Debra Rita; Ivo Renkens; Filip Roelens; Jayla Ruliera; Patrick Rump; Samantha L P Schilit; Ranad Shaheen; Rebecca Sparkes; Erica Spiegel; Blair Stevens; Matthew R Stone; Julia Tagoe; Joseph V Thakuria; Bregje W van Bon; Jiddeke van de Kamp; Ineke van Der Burgt; Ton van Essen; Conny M van Ravenswaaij-Arts; Markus J van Roosmalen; Sarah Vergult; Catharina M L Volker-Touw; Dorothy P Warburton; Matthew J Waterman; Susan Wiley; Anna Wilson; Maria de la Concepcion A Yerena-de Vega; Roberto T Zori; Brynn Levy; Han G Brunner; Nicole de Leeuw; Wigard P Kloosterman; Erik C Thorland; Cynthia C Morton; James F Gusella; Michael E Talkowski

Redin, C, Brand, H, Collins, R L, Kammin, T, Mitchell, E, Hodge, J C, Hanscom, C, Pillalamarri, V, Seabra, C M, Abbott, M A, Abdul-Rahman, O A, Aberg, E, Adley, R, Alcaraz-Estrada, S L, Alkuraya, F S, An, Y, Anderson, M A, Antolik, C, Anyane-Yeboa, K, Atkin, J F, Bartell, T, Bernstein, J A, Beyer, E, Blumenthal, I, Bongers, E M H F, Brilstra, E H, Brown, C W, Brüggenwirth, H T, Callewaert, B, Chiang, C, Corning, K, Cox, H, Cuppen, E, Currall, B B, Cushing, T, David, D, Deardorff, M A, Dheedene, A, D'Hooghe, M, De Vries, B B A, Earl, D L, Ferguson, H L, Fisher, H, FitzPatrick, D R, Gerrol, P, Giachino, D, Glessner, J T, Gliem, T, Grady, M, Graham, B H, Griffis, C, Gripp, K W, Gropman, A L, Hanson-Kahn, A, Harris, D J, Hayden, M A, Hill, R, Hochstenbach, R, Hoffman, J D, Hopkin, R J, Hubshman, M W, Innes, A M, Irons, M, Irving, M, Jacobsen, J C, Janssens, S, Jewett, T, Johnson, J P, Jongmans, M C, Kahler, S G, Koolen, D A, Korzelius, J, Kroisel, P M, Lacassie, Y, Lawless, W, Lemyre, E, Leppig, K, Levin, A V, Li, H, Li, H, Liao, E C, Lim, C, Lose, E J, Lucente, D, MacEra, M J, Manavalan, P, Mandrile, G, Marcelis, C L, Margolin, L, Mason, T, Masser-Frye, D, McClellan, M W, Zepeda Mendoza, C J, Menten, B, Middelkamp, S, Mikami, L R, Moe, E, Mohammed, S, Mononen, T, Mortenson, M E, Moya, G, Nieuwint, A W, Ordulu, Z, Parkash, S, Pauker, S P, Pereira, S, Perrin, D, Phelan, K, Piña Aguilar, R E, Poddighe, P J, Pregno, G, Raskin, S, Reis, L, Rhead, W, Rita, D, Renkens, I, Roelens, F, Ruliera, J, Rump, P, Schilit, S L P, Shaheen, R, Sparkes, R, Spiegel, E, Stevens, B, Stone, M R, Tagoe, J, Thakuria, J V, Van Bon, B W, Van De Kamp, J, Van Der Burgt, I, Van Essen, T, Van Ravenswaaij-Arts, C M, Van Roosmalen, M J, Vergult, S, Volker-Touw, C M L, Warburton, D P, Waterman, M J, Wiley, S, Wilson, A, Yerena-De Vega, M D L C A, Zori, R T, Levy, B, Brunner, H G, De Leeuw, N, Kloosterman, W P, Thorland, E C, Morton, C C, Gusella, J F & Talkowski, M E 2017, 'The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies', Nature Genetics, vol. 49, no. 1, pp. 36-45. https://doi.org/10.1038/ng.3720
Nature Genetics, 49, 1, pp. 36-45
Redin, C, Brand, H, Collins, R L, Kammin, T, Mitchell, E, Hodge, J C, Hanscom, C, Pillalamarri, V, Seabra, C M, Abbott, M-A, Abdul-Rahman, O A, Aberg, E, Adley, R, Alcaraz-Estrada, S L, Alkuraya, F S, An, Y, Anderson, M-A, Antolik, C, Anyane-Yeboa, K, Atkin, J F, Bartell, T, Bernstein, J A, Beyer, E, Blumenthal, I, Bongers, E M H F, Brilstra, E H, Brown, C W, Brüggenwirth, H T, Callewaert, B, Chiang, C, Corning, K, Cox, H, Cuppen, E, Currall, B B, Cushing, T, David, D, Deardorff, M A, Dheedene, A, D'Hooghe, M, de Vries, B B A, Earl, D L, Ferguson, H L, Fisher, H, FitzPatrick, D R, Gerrol, P, Giachino, D, Glessner, J T, Gliem, T, Grady, M, Graham, B H, Griffis, C, Gripp, K W, Gropman, A L, Hanson-Kahn, A, Harris, D J, Hayden, M A, Hill, R, Hochstenbach, R, Hoffman, J D, Hopkin, R J, Hubshman, M W, Innes, A M, Irons, M, Irving, M, Jacobsen, J C, Janssens, S, Jewett, T, Johnson, J P, Jongmans, M C, Kahler, S G, Koolen, D A, Korzelius, J, Kroisel, P M, Lacassie, Y, Lawless, W, Lemyre, E, Leppig, K, Levin, A V, Li, H, Li, H, Liao, E C, Lim, C, Lose, E J, Lucente, D, Macera, M J, Manavalan, P, Mandrile, G, Marcelis, C L, Margolin, L, Mason, T, Masser-Frye, D, McClellan, M W, Mendoza, C J Z, Menten, B, Middelkamp, S, Mikami, L R, Moe, E, Mohammed, S, Mononen, T, Mortenson, M E, Moya, G, Nieuwint, A W, Ordulu, Z, Parkash, S, Pauker, S P, Pereira, S, Perrin, D, Phelan, K, Aguilar, R E P, Poddighe, P J, Pregno, G, Raskin, S, Reis, L, Rhead, W, Rita, D, Renkens, I, Roelens, F, Ruliera, J, Rump, P, Schilit, S L P, Shaheen, R, Sparkes, R, Spiegel, E, Stevens, B, Stone, M R, Tagoe, J, Thakuria, J V, van Bon, B W, van de Kamp, J, van Der Burgt, I, van Essen, T, van Ravenswaaij-Arts, C M, van Roosmalen, M J, Vergult, S, Volker-Touw, C M L, Warburton, D P, Waterman, M J, Wiley, S, Wilson, A, Yerena-de Vega, M D L C A, Zori, R T, Levy, B, Brunner, H G, de Leeuw, N, Kloosterman, W P, Thorland, E C, Morton, C C, Gusella, J F & Talkowski, M E 2017, ' The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies ', Nature Genetics, vol. 49, no. 1, pp. 36-45 . https://doi.org/10.1038/ng.3720
Redin, C, Brand, H, Collins, R L, Kammin, T, Mitchell, E, Hodge, J C, Hanscom, C, Pillalamarri, V, Seabra, C M, Abbott, M-A, Abdul-Rahman, O A, Aberg, E, Adley, R, Alcaraz-Estrada, S L, Alkuraya, F S, An, Y, Anderson, M-A, Antolik, C, Anyane-Yeboa, K, Atkin, J F, Bartell, T, Bernstein, J A, Beyer, E, Blumenthal, I, Bongers, E M H F, Brilstra, E H, Brown, C W, Brüggenwirth, H T, Callewaert, B, Chiang, C, Corning, K, Cox, H, Cuppen, E, Currall, B B, Cushing, T, David, D, Deardorff, M A, Dheedene, A, D'Hooghe, M, de Vries, B B A, Earl, D L, Ferguson, H L, Fisher, H, FitzPatrick, D R, Gerrol, P, Giachino, D, Glessner, J T, Gliem, T, Grady, M, Graham, B H, Griffis, C, Gripp, K W, Gropman, A L, Hanson-Kahn, A, Harris, D J, Hayden, M A, Hill, R, Hochstenbach, R, Hoffman, J D, Hopkin, R J, Hubshman, M W, Innes, A M, Irons, M, Irving, M, Jacobsen, J C, Janssens, S, Jewett, T, Johnson, J P, Jongmans, M C, Kahler, S G, Koolen, D A, Korzelius, J, Kroisel, P M, Lacassie, Y, Lawless, W, Lemyre, E, Leppig, K, Levin, A V, Li, H, Li, H, Liao, E C, Lim, C, Lose, E J, Lucente, D, Macera, M J, Manavalan, P, Mandrile, G, Marcelis, C L, Margolin, L, Mason, T, Masser-Frye, D, McClellan, M W, Mendoza, C J Z, Menten, B, Middelkamp, S, Mikami, L R, Moe, E, Mohammed, S, Mononen, T, Mortenson, M E, Moya, G, Nieuwint, A W, Ordulu, Z, Parkash, S, Pauker, S P, Pereira, S, Perrin, D, Phelan, K, Aguilar, R E P, Poddighe, P J, Pregno, G, Raskin, S, Reis, L, Rhead, W, Rita, D, Renkens, I, Roelens, F, Ruliera, J, Rump, P, Schilit, S L P, Shaheen, R, Sparkes, R, Spiegel, E, Stevens, B, Stone, M R, Tagoe, J, Thakuria, J V, van Bon, B W, van de Kamp, J, van Der Burgt, I, van Essen, T, van Ravenswaaij-Arts, C M, van Roosmalen, M J, Vergult, S, Volker-Touw, C M L, Warburton, D P, Waterman, M J, Wiley, S, Wilson, A, Yerena-de Vega, M D L C A, Zori, R T, Levy, B, Brunner, H G, de Leeuw, N, Kloosterman, W P, Thorland, E C, Morton, C C, Gusella, J F & Talkowski, M E 2017, 'The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies', Nature Genetics, vol. 49, no. 1, pp. 36-45. https://doi.org/10.1038/ng.3720

Kowarik, Michael; Numao, Shin; Feldman, Mario F.; Schulz, Benjamin L.; Callewaert, Nico; Kiermaier, Eva; Catrein, Ina; Aebi, Markus

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