부산대학교 도서관

Mincheva-Tasheva, S; Pfitzner, C; Kumar, R; Kurtsdotter, I; Scherer, M; Ritchie, T; Muhr, J; Gecz, J; Thomas, PQ

Open biology. 14(4):230383

Helbig, KL; Lauerer, RJ; Bahr, JC; Souza, IA; Myers, CT; Uysal, B; Schwarz, N; Gandini, MA; Huang, S; Keren, B; Mignot, C; Afenjar, A; de Villemeur, TB; Heron, D; Nava, C; Valence, S; Buratti, J; Fagerberg, CR; Soerensen, KP; Kibaek, M; Kamsteeg, EJ; Koolen, DA; Gunning, B; Schelhaas, HJ; Kruer, MC; Fox, J; Bakhtiari, S; Jarrar, R; Padilla-Lopez, S; Lindstrom, K; Jin, SC; Zeng, X; Bilguvar, K; Papavasileiou, A; Xin, QH; Zhu, CL; Boysen, K; Vairo, F; Lanpher, BC; Klee, EW; Tillema, JM; Payne, ET; Cousin, MA; Kruisselbrink, TM; Wick, MJ; Baker, J; Haan, E; Smith, N; Corbett, MA; MacLennan, AH; Gecz, J; Biskup, S; Goldmann, E; Rodan, LH; Kichula, E; Segal, E; Jackson, KE; Asamoah, A; Dimmock, D; McCarrier, J; Botto, LD; Filloux, F; Tvrdik, T; Cascino, GD; Klingerman, S; Neumann, C; Wang, R; Jacobsen, JC; Nolan, MA; Snell, RG; Lehnert, K; Sadleir, LG; Anderlid, BM; Kvarnung, M; Guerrini, R; Friez, MJ; Lyons, MJ; Leonhard, J; Kringlen, G; Casas, K; El Achkar, CM; Smith, LA; Rotenberg, A; Poduri, A; Sanchis-Juan, A; Carss, KJ; Rankin, J; Zeman, A; Raymond, FL; Blyth, M; Kerr, B; Ruiz, K; Urquhart, J; Hughes, I; Banka, S; Hedrich, UBS; Scheffer, IE; Helbig, I; Zamponi, GW; Lerche, H; Mefford, HC

American journal of human genetics. 103(5):666-678

Jansen, S; Hoischen, A; Coe, BP; Carvill, GL; Van Esch, H; Bosch, DGM; Andersen, UA; Baker, C; Bauters, M; Bernier, RA; van Bon, BW; Claahsen-van der Grinten, HL; Gecz, J; Gilissen, C; Grillo, L; Hackett, A; Kleefstra, T; Koolen, D; Kvarnung, M; Larsen, MJ; Marcelis, C; McKenzie, F; Monin, ML; Nava, C; Schuurs-Hoeijmakers, JH; Pfundt, R; Steehouwer, M; Stevens, SJC; Stumpel, CT; Vansenne, F; Vinci, M; van de Vorst, M; de Vries, P; Witherspoon, K; Veltman, JA; Brunner, HG; Mefford, HC; Romano, C; Vissers, LELM; Eichler, EE; de Vries, BBA

European journal of human genetics : EJHG. 26(1):54-63

Nicolas-Martinez EC; The Robinson Research Institute, University of Adelaide, Adelaide, SA 5005, Australia; School of Biomedicine, University of Adelaide, Adelaide, SA 5005, Australia.; Robinson O; The Robinson Research Institute, University of Adelaide, Adelaide, SA 5005, Australia; School of Biomedicine, University of Adelaide, Adelaide, SA 5005, Australia.; Pflueger C; Harry Perkins Institute of Medical Research, Nedlands, WA 6009, Australia; Australian Research Council Centre of Excellence in Plant Energy Biology, School of Molecular Sciences, The University of Western Australia, Crawley, WA 6009, Australia; The Robinson Research Institute, University of Adelaide, Adelaide, SA 5005, Australia.; Gardner A; The Robinson Research Institute, University of Adelaide, Adelaide, SA 5005, Australia; Adelaide Medical School, University of Adelaide, Adelaide, SA 5005, Australia.; Corbett MA; The Robinson Research Institute, University of Adelaide, Adelaide, SA 5005, Australia; Adelaide Medical School, University of Adelaide, Adelaide, SA 5005, Australia; The Robinson Research Institute, University of Adelaide, Adelaide, SA 5005, Australia.; Ritchie T; The Robinson Research Institute, University of Adelaide, Adelaide, SA 5005, Australia; Adelaide Medical School, University of Adelaide, Adelaide, SA 5005, Australia.; Kroes T; The Robinson Research Institute, University of Adelaide, Adelaide, SA 5005, Australia; Adelaide Medical School, University of Adelaide, Adelaide, SA 5005, Australia.; van Eyk CL; The Robinson Research Institute, University of Adelaide, Adelaide, SA 5005, Australia; Adelaide Medical School, University of Adelaide, Adelaide, SA 5005, Australia; The Robinson Research Institute, University of Adelaide, Adelaide, SA 5005, Australia.; Scheffer IE; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia; Murdoch Children's Research Institute, Parkville, VIC 3052, Australia; Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, VIC 3052, Australia.; Hildebrand MS; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, VIC 3052, Australia; The Robinson Research Institute, University of Adelaide, Adelaide, SA 5005, Australia.; Barnier JV; Institut des Neurosciences Paris-Saclay, UMR 9197, CNRS, Université Paris-Saclay, Saclay, France.; Rousseau V; Institut des Neurosciences Paris-Saclay, UMR 9197, CNRS, Université Paris-Saclay, Saclay, France.; Genevieve D; Montpellier University, Inserm U1183, Reference Center for Rare Diseases Developmental Anomaly and Malformative Syndromes, Genetics Department, Montpellier Hospital, Montpellier, France.; Haushalter V; Genetic Diagnosis Laboratory, Strasbourg University Hospital, Strasbourg, France.; Piton A; Genetic Diagnosis Laboratory, Strasbourg University Hospital, Strasbourg, France.; Denommé-Pichon AS; CRMRs 'Anomalies du Développement et syndromes malformatifs' et 'Déficiences Intellectuelles de causes rares', Centre de Génétique, CHU Dijon, Dijon, France; INSERM UMR1231, GAD 'Génétique des Anomalies du Développement,' FHU-TRANSLAD, University of Burgundy, Dijon, France.; Bruel AL; CRMRs 'Anomalies du Développement et syndromes malformatifs' et 'Déficiences Intellectuelles de causes rares', Centre de Génétique, CHU Dijon, Dijon, France; INSERM UMR1231, GAD 'Génétique des Anomalies du Développement,' FHU-TRANSLAD, University of Burgundy, Dijon, France.; Nambot S; CRMRs 'Anomalies du Développement et syndromes malformatifs' et 'Déficiences Intellectuelles de causes rares', Centre de Génétique, CHU Dijon, Dijon, France; INSERM UMR1231, GAD 'Génétique des Anomalies du Développement,' FHU-TRANSLAD, University of Burgundy, Dijon, France.; Isidor B; CRMRs 'Anomalies du Développement et syndromes malformatifs' et 'Déficiences Intellectuelles de causes rares', Centre de Génétique, CHU Dijon, Dijon, France; INSERM UMR1231, GAD 'Génétique des Anomalies du Développement,' FHU-TRANSLAD, University of Burgundy, Dijon, France.; Grigg J; Speciality of Ophthalmology, Save Sight Institute, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW 2000, Australia.; Gonzalez T; Department of Clinical Genetics, Royal North Shore Hospital, St Leonards, NSW 2065, Australia.; Ghedia S; Department of Clinical Genetics, Royal North Shore Hospital, St Leonards, NSW 2065, Australia.; Marchant RG; Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead, Westmead, NSW 2145, Australia; Faculty of Medicine and Health, The University of Sydney, Sydney, NSW 2000, Australia.; Bournazos A; Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead, Westmead, NSW 2145, Australia; Children's Medical Research Institute, Westmead, NSW 2145, Australia.; Wong WK; Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead, Westmead, NSW 2145, Australia; Children's Medical Research Institute, Westmead, NSW 2145, Australia; Department of Paediatric Neurology, Children's Hospital at Westmead, Sydney, NSW 2000, Australia.; Webster RI; Department of Paediatric Neurology, Children's Hospital at Westmead, Sydney, NSW 2000, Australia.; Evesson FJ; Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead, Westmead, NSW 2145, Australia; Faculty of Medicine and Health, The University of Sydney, Sydney, NSW 2000, Australia; Children's Medical Research Institute, Westmead, NSW 2145, Australia.; Jones KJ; Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead, Westmead, NSW 2145, Australia; Children's Medical Research Institute, Westmead, NSW 2145, Australia; Department of Clinical Genetics, Children's Hospital at Westmead, Sydney, NSW 2000, Australia.; Cooper ST; Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead, Westmead, NSW 2145, Australia; Faculty of Medicine and Health, The University of Sydney, Sydney, NSW 2000, Australia; Children's Medical Research Institute, Westmead, NSW 2145, Australia.; Lister R; Harry Perkins Institute of Medical Research, Nedlands, WA 6009, Australia; Australian Research Council Centre of Excellence in Plant Energy Biology, School of Molecular Sciences, The University of Western Australia, Crawley, WA 6009, Australia.; Gecz J; The Robinson Research Institute, University of Adelaide, Adelaide, SA 5005, Australia; Adelaide Medical School, University of Adelaide, Adelaide, SA 5005, Australia; South Australian Health and Medical Research Institute, Adelaide, SA 5000, Australia. Electronic address: jozef.gecz@adelaide.edu.au.; Jolly LA; The Robinson Research Institute, University of Adelaide, Adelaide, SA 5005, Australia; School of Biomedicine, University of Adelaide, Adelaide, SA 5005, Australia. Electronic address: lachlan.jolly@adelaide.edu.au.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Reijnders, MRF; Zachariadis, V; Latour, B; Jolly, L; Mancini, GM; Pfundt, R; Wu, KM; van Ravenswaaij-Arts, CMA; Veenstra-Knol, HE; Anderlid, BMM; Wood, SA; Cheung, SW; Barnicoat, A; Probst, F; Magoulas, P; Brooks, AS; Malmgren, H; Harila-Saari, A; Marcelis, CM; Vreeburg, M; Hobson, E; Sutton, VR; Stark, Z; Vogt, J; Cooper, N; Lim, JY; Price, S; Lai, AHM; Domingo, D; Reversade, B; Gecz, J; Gilissen, C; Brunner, HG; Kini, U; Roepman, R; Nordgren, A; Kleefstra, T

American journal of human genetics. 98(2):373-381

Stessman, HAF; Willemsen, MH; Fenckova, M; Penn, O; Hoischen, A; Xiong, B; Wang, TY; Hoekzema, K; Vives, L; Voge, I; Brunner, HG; van der Burgt, I; Ockeloen, CW; Schuurs-Hoeijmakers, JH; Wassink-Ruiter, JSK; Stumpel, C; Stevens, SJC; Vles, HS; Marcelis, CM; van Bokhoven, H; Cantagrel, V; Colleaux, L; Nicouleau, M; Lyonnet, S; Bernier, RA; Gerdts, J; Coe, BP; Romano, C; Alberti, A; Grillo, L; Scuderi, C; Nordenskjold, M; Kvarnung, M; Guo, H; Xia, K; Piton, A; Gerard, B; Genevieve, D; Delobel, B; Lehalle, D; Perrin, L; Prieur, F; Thevenon, J; Gecz, J; Shaw, M; Pfundt, R; Keren, B; Jacquette, A; Schenck, A; Eichler, EE; Kleefstra, Tz

American journal of human genetics. 98(3):541-552

Guo, H; Li, Y; Shen, L; Wang, TY; Jia, XB; Liu, LJ; Xu, T; Ou, MZ; Hoekzema, K; Wu, HD; Gillentine, MA; Liu, CY; Ni, HL; Peng, PW; Zhao, RJ; Zhang, Y; Phornphutkul, C; Stegmann, APA; Prada, CE; Hopkin, RJ; Shieh, JT; McWalter, K; Monaghan, KG; van Hasselt, PM; van Gassen, K; Bai, T; Long, M; Han, L; Quan, YT; Chen, ML; Zhang, YW; Li, KK; Zhang, QM; Tan, JQ; Zhu, TF; Liu, YN; Pang, N; Peng, J; Scott, DA; Lalani, SR; Azamian, M; Mancini, GMS; Adams, DJ; Kvarnung, M; Lindstrand, A; Nordgren, A; Pevsner, J; Osei-Owusu, IA; Romano, C; Calabrese, G; Galesi, O; Gecz, J; Haan, E; Ranells, J; Racobaldo, M; Nordenskjold, M; Madan-Khetarpal, S; Sebastian, J; Ball, S; Zou, XB; Zhao, JP; Hu, ZM; Xia, F; Liu, PF; Rosenfeld, JA; de Vries, BBA; Bernier, RA; Xu, ZQD; Li, HH; Xie, W; Hufnagel, RB; Eichler, EE; Xia, K

Science advances. 5(9)

Heron, SE; Grinton, BE; Kivity, S; Afawi, Z; Zuberi, SM; Hughes, JN; Pridmore, C; Hodgson, BL; Iona, X; Sadleir, LG; Pelekanos, J; Herlenius, E; Goldberg-Stern, H; Bassan, H; Haan, E; Korczyn, AD; Gardner, AE; Corbett, MA; Gecz, J; Thomas, PQ; Mulley, JC; Berkovic, SF; Scheffer, IE; Dibbens, LM

American journal of human genetics. 90(1):152-160

Gillentine, MA; Wang, TY; Hoekzema, K; Rosenfeld, J; Liu, PF; Guo, H; Kim, CN; De Vries, BBA; Vissers, LELM; Nordenskjold, M; Kvarnung, M; Lindstrand, A; Nordgren, A; Gecz, J; Iascone, M; Cereda, A; Scatigno, A; Maitz, S; Zanni, G; Bertini, E; Zweier, C; Schuhmann, S; Wiesener, A; Pepper, M; Panjwani, H; Torti, E; Abid, F; Anselm, I; Srivastava, S; Atwal, P; Bacino, CA; Bhat, G; Cobian, K; Bird, LM; Friedman, J; Wright, MS; Callewaert, B; Petit, F; Mathieu, S; Afenjar, A; Christensen, CK; White, KM; Elpeleg, O; Berger, I; Espineli, EJ; Fagerberg, C; Brasch-Andersen, C; Hansen, LK; Feyma, T; Hughes, S; Thiffault, I; Sullivan, B; Yan, S; Keller, K; Keren, B; Mignot, C; Kooy, F; Meuwissen, M; Basinger, A; Kukolich, M; Philips, M; Ortega, L; Drummond-Borg, M; Lauridsen, M; Sorensen, K; Lehman, A; Lopez-Rangel, E; Levy, P; Lessel, D; Lotze, T; Madan-Khetarpal, S; Sebastian, J; Vento, J; Vats, D; Benman, LM; Mckee, S; Mirzaa, GM; Muss, C; Pappas, J; Peeters, H; Romano, C; Elia, M; Galesi, O; Simon, MEH; van Gassen, KLI; Simpson, K; Stratton, R; Syed, S; Thevenon, J; Palafoll, IV; Vitobello, A; Bournez, M; Faivre, L; Xia, K; Earl, RK; Nowakowski, T; Bernier, RA; Eichler, EE

Genome medicine. 13(1):63

Huang, L; Shum, EY; Jones, SH; Lou, C-H; Chousal, J; Kim, H; Roberts, AJ; Jolly, LA; Espinoza, JL; Skarbrevik, DM; Phan, MH; Cook-Andersen, H; Swerdlow, NR; Gecz, J; Wilkinson, MF

Molecular Psychiatry. 23(8)