부산대학교 도서관

Qebibo, Leila ; Davakan, Amaël ; Nesson-Dauphin, Mathilde ; Boulali, Najlae ; Siquier-Pernet, Karine ; Afenjar, Alexandra ; Amiel, Jeanne ; Bartholdi, Deborah ; Barth, Magalie ; Blondiaux, Eléonore ; Cristian, Ingrid ; Frazier, Zoe ; Goldenberg, Alice ; Good, Jean-Marc ; Salussolia, Catherine Lourdes ; Sahin, Mustafa ; McCullagh, Helen ; McDonald, Kimberly ; McRae, Anne ; Morrison, Jennifer ; Pinner, Jason ; Shinawi, Marwan ; Toutain, Annick ; Vyhnálková, Emílie ; Wheeler, Patricia G. ; Wilnai, Yael ; Hausman-Kedem, Moran ; Coolen, Marion ; Cantagrel, Vincent ; Burglen, Lydie ; Lory, Philippe

In Genetics in Medicine March 2025 27(3)

Rots, Dmitrijs ; Choufani, Sanaa ; Faundes, Victor ; Dingemans, Alexander J.M. ; Joss, Shelagh ; Foulds, Nicola ; Jones, Elizabeth A. ; Stewart, Sarah ; Vasudevan, Pradeep ; Dabir, Tabib ; Park, Soo-Mi ; Jewell, Rosalyn ; Brown, Natasha ; Pais, Lynn ; Jacquemont, Sébastien ; Jizi, Khadijé ; Ravenswaaij-Arts, Conny M.A. van ; Kroes, Hester Y. ; Stumpel, Constance T.R. M. ; Ockeloen, Charlotte W. ; Diets, Illja J. ; Nizon, Mathilde ; Vincent, Marie ; Cogné, Benjamin ; Besnard, Thomas ; Kambouris, Marios ; Anderson, Emily ; Zackai, Elaine H. ; McDougall, Carey ; Donoghue, Sarah ; O'Donnell-Luria, Anne ; Valivullah, Zaheer ; O'Leary, Melanie ; Srivastava, Siddharth ; Byers, Heather ; Leslie, Nancy ; Mazzola, Sarah ; Tiller, George E. ; Vera, Moin ; Shen, Joseph J. ; Boles, Richard ; Jain, Vani ; Brischoux-Boucher, Elise ; Kinning, Esther ; Simpson, Brittany N. ; Giltay, Jacques C. ; Harris, Jacqueline ; Keren, Boris ; Guimier, Anne ; Marijon, Pierre ; Vries, Bert B.A. de ; Motter, Constance S. ; Mendelsohn, Bryce A. ; Coffino, Samantha ; Gerkes, Erica H. ; Afenjar, Alexandra ; Visconti, Paola ; Bacchelli, Elena ; Maestrini, Elena ; Delahaye-Duriez, Andree ; Gooch, Catherine ; Hendriks, Yvonne ; Adams, Hieab ; Thauvin-Robinet, Christel ; Josephi-Taylor, Sarah ; Bertoli, Marta ; Parker, Michael J. ; Rutten, Julie W. ; Caluseriu, Oana ; Vernon, Hilary J. ; Kaziyev, Jonah ; Zhu, Jia ; Kremen, Jessica ; Frazier, Zoe ; Osika, Hailey ; Breault, David ; Nair, Sreelata ; Lewis, Suzanne M.E. ; Ceroni, Fabiola ; Viggiano, Marta ; Posar, Annio ; Brittain, Helen ; Giovanna, Traficante ; Giulia, Gori ; Quteineh, Lina ; Ha-Vinh Leuchter, Russia ; Zonneveld-Huijssoon, Evelien ; Mellado, Cecilia ; Marey, Isabelle ; Coudert, Alicia ; Aracena Alvarez, Mariana Inés ; Kennis, Milou G.P. ; Bouman, Arianne ; Roifman, Maian ; Amorós Rodríguez, María Inmaculada ; Ortigoza-Escobar, Juan Dario ; Vernimmen, Vivian ; Sinnema, Margje ; Pfundt, Rolph ; Brunner, Han G. ; Vissers, Lisenka E.L.M. ; Kleefstra, Tjitske ; Weksberg, Rosanna ; Banka, Siddharth

In The American Journal of Human Genetics 8 August 2024 111(8):1626-1642

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

In The American Journal of Human Genetics 8 August 2024 111(8):1605-1625

Rajkumar-Calkins, Anne S. ; Szalat, Raphael ; Dreze, Matija ; Khan, Iman ; Frazier, Zoë ; Reznichenkov, Elizaveta ; Schnorenberg, Mathew R. ; Tsai, Yi-Fang ; Nguyen, Huy ; Kochupurakkal, Bose ; D’Andrea, Alan D ; Shapiro, Geoffrey I ; Lazaro, Jean-Bernard ; Mouw, Kent W

In DNA Repair October 2019 82

Yue, Shanna L.; Pillai, Rajapillai L. I.; Frazier, Zoe; Osika, Hailey; Quinn, Meg; O'toole, Jillian; Heslin, Brynn; Zhang, Bo; Dies, Kira A.; Pais, Lynn; O'donnell-luria, Anne; Horlbeck, Max A.; Kossowsky, Joe; Lipton, Jonathan; Srivastava, Siddharth

AMERICAN JOURNAL OF MEDICAL GENETICS PART A; FEB 6 2026, 6p.

Haviland, Isabel; Hector, Ralph D.; Swanson, Lindsay C.; Verran, Aubrie Soucy; Sherrill, Emma; Frazier, Zoë; Denny, AnneMarie M.; Lucash, Jenna; Zhang, Bo; Dubbs, Holly A.; Marsh, Eric D.; Weisenberg, Judith L.; Leonard, Helen; Crippa, Milena; Cogliati, Francesca; Russo, Silvia; Suter, Bernhard; Rajaraman, Rajsekar; Percy, Alan K.; Schreiber, John M.

American Journal of Medical Genetics. Part A; Jan2025, Vol. 197 Issue 1, p1-13, 13p

Morison, Lottie D.; Kennis, Milou G. P.; Rots, Dmitrijs; Bouman, Arianne; Kummeling, Joost; Palmer, Elizabeth; Vogel, Adam P.; Liegeois, Frederique; Brignell, Amanda; Srivastava, Siddharth; Frazier, Zoe; Milnes, Di; Goel, Himanshu; Amor, David J.; Scheffer, Ingrid E.; Kleefstra, Tjitske; Morgan, Angela T.

Journal of Medical Genetics; Jun2024, Vol. 61 Issue 6, p578-585, 54p

Koyen, Allyson E.; Madden, Matthew Z.; Park, Dongkyoo; Minten, Elizabeth V.; Kapoor-Vazirani, Priya; Werner, Erica; Pfister, Neil T.; Haji-Seyed-Javadi, Ramona; Zhang, Hui; Xu, Jie; Deng, Nikita; Duong, Duc M.; Pecen, Turner J.; Frazier, Zoë; Nagel, Zachary D.; Lazaro, Jean-Bernard; Mouw, Kent W.; Seyfried, Nicholas T.; Moreno, Carlos S.; Owonikoko, Taofeek K.; Deng, Xingming; Yu, David S.

Oncogene. :1-3

Santana Almansa, Alexandra; Gable, Dustin L.; Frazier, Zoë; Sveden, Abigail; Quinlan, Aisling; Chopra, Maya; Lewis, Sara A.; Kruer, Michael; Poduri, Annapurna; Srivastava, Siddharth

Annals of Clinical & Translational Neurology. Feb2024, Vol. 11 Issue 2, p251-262. 12p.

Bouman A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Gaasterland CMW; Amsterdam UMC, University of Amsterdam, Emma Children's Hospital, Amsterdam, The Netherlands; European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability ERN-ITHACA, Clinical Genetics Department, Robert Debré University Hospital, Paris, France.; Sloof-Enthoven C; ZeldSamen, patient organization for rare genetic neurodevelopmental disorders, The Netherlands.; Draksler TZ; International research centre on artificial intelligence under the auspices of UNESCO, Jožef Stefan Institute, Ljubljana, Slovenia; IDefine Europe Foundation, Ljubljana, Slovenia; ERN ITHACA patient board vice-chair.; Rots D; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands; Genetics Laboratory, Children's Clinical University Hospital, Riga, Latvia.; Geelen JM; Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.; Morison LD; Speech and Language, Murdoch Children's Research Institute, Parkville, Victoria, Australia. Department of Audiology and Speech Pathology, The University of Melbourne, Melbourne, Victoria, Australia.; Morgan AT; Speech and Language, Murdoch Children's Research Institute, Parkville, Victoria, Australia. Department of Audiology and Speech Pathology, The University of Melbourne, Melbourne, Victoria, Australia.; Wicher D; Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland.; Rivero S; Departamento de Citología e Histología Normal y Patológica, Facultad de Medicina, Universidad de Sevilla, Sevilla, Spain. Centro Andaluz de Biología Molecular y Medicina Regenerativa-CABIMER, Universidad de Sevilla-CSIC-Junta de Andalucía-Universidad Pablo de Olavide, Sevilla, Spain.; Fernández-Ulibarri I; Asociación Kleefstra España, Madrid, Spain.; Drake J; IDefine Foundation, USA.; O'Donnell Luria A; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Pickup L; Parent, England, UK.; Shalhoub C; Centre for Clinical Genetics, Sydney Childrens' Hospitals Network, Sydney, NSW, Australia; School of Clinical Medicine, UNSW Medicine and Health, Randwick Clinical Campus, Sydney, NSW, Australia.; Milani D; Medical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.; Hennekam RC; Department of Pediatrics, Amsterdam University Medical Center, Amsterdam, the Netherlands.; Tumiene B; Vilnius University, Faculty of Medicine, Institute of Biomedical Sciences, Vilnius, Lithuania.; Dies KA; Rosamund Stone Zander Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Boston, MA 02115.; Garavelli L; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.; Bedeschi MF; Medical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.; Danieli A; Scientific Institute IRCCS E. Medea, Epilepsy and Clinical Neurophysiology Unit, Conegliano, Italy.; van Renssen LV; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Palmer EE; Centre for Clinical Genetics, Sydney Childrens' Hospitals Network, Sydney, NSW, Australia; Discipline of Paediatrics and Child Health, School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia.; Grosdemouge I; Association Kleefstra Syndrome, France.; Hadzsiev K; Department of Medical Genetics, Medical School, Clinical Center, University of Pécs, Hungary.; Ousager LB; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark; Department of Clinical Research, University of Southern Denmark, Odense, Denmark.; Frazier Z; Rosamund Stone Zander Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Boston, MA 02115.; Chopra M; Rosamund Stone Zander Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Boston, MA 02115.; Szakszon K; Institute of Paediatrics, University of Debrecen, Faculty of Medicine, Clinical Centre, Debrecen, Hungary.; Ewans L; Centre for Clinical Genetics, Sydney Childrens' Hospitals Network, Sydney, NSW, Australia; Discipline of Paediatrics and Child Health, School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Darlinghurst, NSW.; Srivastava S; Rosamund Stone Zander Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Boston, MA 02115.; Balbo N; Department of Social and Political Sciences and Dondena Centre for Research on Social Dynamics and Public Policy, Bocconi University, Milan, Italy.; Caterino E; Child and Adolescence Neuropsychiatrist, USL Sudest Toscana, Grosseto UFSMIA Autism Center, Castel del Piano Hospital, 58033, Grosseto, Italy.; Schenck A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Smith R; Department of Critical Care Medicine. Sunnybrook Health Sciences Centre. Toronto, Ontario, Canada.; Boonstra FN; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands; Royal Dutch Visio, National Foundation for the Visually Impaired and Blind, Huizen, Netherlands.; van Till SAL; Department of Medical Ethics, Philosophy and History of Medicine, Erasmus MC, Rotterdam, The Netherlands.; Vasireddi SK; Department of Medicine, Division of Cardiovascular Medicine, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.; Brian Chung HY; Department of Paediatrics & Adolescent Medicine, School of Clinical Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.; Klein Haneveld MJ; Amsterdam UMC, University of Amsterdam, Emma Children's Hospital, Amsterdam, The Netherlands; European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability ERN-ITHACA, Clinical Genetics Department, Robert Debré University Hospital, Paris, France; Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands; Amsterdam Public Health Research Institute, Amsterdam, The Netherlands.; Vyshka K; European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability ERN-ITHACA, Clinical Genetics Department, Robert Debré University Hospital, Paris, France; Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands; Amsterdam Public Health Research Institute, Amsterdam, The Netherlands.; Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands; Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, the Netherlands. Electronic address: t.kleefstra@erasmusmc.nl.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Moeller, Birk; Becker, Lena-Luise; Saffari, Afshin; Afenjar, Alexandra; Coci, Emanuele G.; Williamson, Rachel; Ward-Melver, Catherine; Gibaud, Marc; Sedlackova, Lucie; Lassuthova, Petra; Liba, Zuzana; Vlckova, Marketa; William, Nancy; Klee, Eric W.; Gavrilova, Ralitza H.; Levy, Jonathan; Capri, Yline; Scavina, Mena; Koerner, Robert Walter; Valivullah, Zaheer; Weiss, Claudia; Moeller, Greta Marit; Frazier, Zoe; Roberts, Amy; Gener, Blanca; Scala, Marcello; Striano, Pasquale; Zara, Federico; Thiel, Moritz; Sinnema, Margje; Kamsteeg, Erik-Jan; Donkervoort, Sandra; Duboc, Veronique; Zaafrane-Khachnaoui, Khaoula; Elkhateeb, Nour; Selim, Laila; Margot, Henri; Marin, Victor; Beneteau, Claire; Isidor, Bertrand; Cogne, Benjamin; Keren, Boris; Kuesters, Benno; Beggs, Alan H.; Sveden, Abigail; Chopra, Maya; Genetti, Casie A.; Nicolai, Joost; Doetsch, Joerg; Koy, Anne; Boennemann, Carsten G.; von der Hagen, Maja; von Kleist-Retzow, Juergen-Christoph; Voermans, Nicol C.; Jungbluth, Heinz; Dafsari, Hormos Salimi

BRAIN; DEC 10 2024, 16p.

Oppermann, Henry; Marcos-Grañeda, Elia; Weiss, Linnea A.; Gurnett, Christina A.; Jelsig, Anne Marie; Vineke, Susanne H.; Isidor, Bertrand; Mercier, Sandra; Magnussen, Kari; Zacher, Pia; Hashim, Mona; Pagnamenta, Alistair T.; Race, Simone; Srivastava, Siddharth; Frazier, Zoë; Maiwald, Robert; Pergande, Matthias; Milani, Donatella; Rinelli, Martina; Levy, Jonathan; Krey, Ilona; Fontana, Paolo; Lonardo, Fortunato; Riley, Stephanie; Kretzer, Jasmine; Rankin, Julia; Reis, Linda M.; Semina, Elena V.; Reuter, Miriam S.; Scherer, Stephen W.; Iascone, Maria; Weis, Denisa; Fagerberg, Christina R.; Brasch-Andersen, Charlotte; Hansen, Lars Kjaersgaard; Kuechler, Alma; Noble, Nathan; Gardham, Alice; Tenney, Jessica; Rathore, Geetanjali; Beck-Woedl, Stefanie; Haack, Tobias B.; Pavlidou, Despoina C.; Atallah, Isis; Vodopiutz, Julia; Janecke, Andreas R.; Hsieh, Tzung-Chien; Lesmann, Hellen; Klinkhammer, Hannah; Krawitz, Peter M.; Lemke, Johannes R.; Jamra, Rami Abou; Nieto, Marta; Tümer, Zeynep; Platzer, Konrad

European Journal of Human Genetics. 31(11):1251-1260

Koyen, Allyson E.; Madden, Matthew Z.; Park, Dongkyoo; Minten, Elizabeth V.; Kapoor-Vazirani, Priya; Werner, Erica; Pfister, Neil T.; Haji-Seyed-Javadi, Ramona; Zhang, Hui; Xu, Jie; Deng, Nikita; Duong, Duc M.; Pecen, Turner J.; Frazier, Zoë; Nagel, Zachary D.; Lazaro, Jean-Bernard; Mouw, Kent W.; Seyfried, Nicholas T.; Moreno, Carlos S.; Owonikoko, Taofeek K.; Deng, Xingming; Yu, David S.

Oncogene. 39(25):4798-4813

Morison, Lottie; Kennis, Milou; Palmer, Elizabeth; Vogel, Adam; Liegeois, Frederique; Brignell, Amanda; Srivastava, Siddarth; Frazier, Zoe; Milnes, Di; Goel, Himanshu; Amor, David; Kleefstra, Tjitske; Scheffer, Ingrid; Morgan, Angela

EUROPEAN JOURNAL OF HUMAN GENETICS; JAN 2024, 32 p453-p454, 2p. Supplement: 1

Li, Qiang; Damish, Alexis W.; Frazier, Zoe; Liu, David; Reznichenko, Elizaveta; Kamburov, Atanas; Bell, Andrew; Zhao, Huiyong; Jordan, Emmet J.; Gao, S. Paul; Ma, Jennifer; Abbosh, Philip H.; Bellmunt, Joaquim; Plimack, Elizabeth R.; Lazaro, Jean-Bernard; Solit, David B.; Bajorin, Dean; Rosenberg, Jonathan E.; D'Andrea, Alan D.; Riaz, Nadeem; Van Allen, Eliezer M.; Iyer, Gopa; Mouw, Kent W.

CLINICAL CANCER RESEARCH; FEB 1 2019, 25 3, p977-p988, 12p.

Mouw, Kent; Lazaro, Jean-Bernard; Damish, Alexis; Reznichenko, Elizaveta; Frazier, Zoe; Liu, David; Kim, Jaegil; Polak, Paz; Garraway, Levi; Getz, Gad; Rosenberg, Jonathan; Van Allen, Eliezer; D'Andrea, Alan

MOLECULAR CANCER RESEARCH; APR 2017, 15 2p. Supplement: 4