Rezultati - Christina Fagerberg

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  1. 1
    Mutations in the VEGFR3 Signaling Pathway Explain 36% of Familial Lymphedema

    Mutations in the VEGFR3 Signaling Pathway Explain 36% of Familial Lymphedema od Antonella Mendola, Matthieu J. Schlögel, Arash Ghalamkarpour, Alexandre Irrthum, Ha‐Long Nguyen, Elodie Fastré, Anette Bygum, Cees van der Vleuten, Christina Fagerberg, Eulàlia Baselga, I. Quéré, John B. Mulliken, Laurence M. Boon, Pascal Brouillard, Miikka Vikkula

    Izdano 2013
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  2. 2
    Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease

    Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease od F. Buket Basmanav, Ana‐Maria Oprişoreanu, Sandra M. Pasternack, Hölger Thiele, G. Fritz, Joerg Wenzel, Leopold Größer, Maria Wehner, Sabrina Wolf, Christina Fagerberg, Anette Bygum, Janine Altmüller, Arno Rütten, Laurent Parmentier, Laila El Shabrawi‐Caelen, Christian Hafner, Peter Nürnberg, Roland Kruse, Susanne Schoch, S. Hanneken, Regina C. Betz

    Izdano 2014
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  3. 3
    Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes

    Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes od Christina Halgren, Nete Munk Nielsen, Lusine Nazaryan‐Petersen, Asli Silahtaroglu, Ryan L. Collins, Chelsea Lowther, Susanne Kjærgaard, Morten Frisch, Maria Kirchhoff, Karen Brøndum‐Nielsen, Allan Lind-Thomsen, Yuan Mang, Zahra El-Schich, Claire A. Boring, Mana M. Mehrjouy, Peter K.A. Jensen, Christina Fagerberg, Lotte Krogh, Jan Hansen, Thue Bryndorf, Claus Hansen, Michael E. Talkowski, Mads Bak, Niels Tommerup, Iben Bache

    Izdano 2018
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  4. 4
    De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies

    De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies od Richard Holt, Rodrigo Young, Berta Crespo, Fabiola Ceroni, Cynthia J. Curry, Emanuele Bellacchio, Dorine A. Bax, Andrea Ciolfi, Marleen Simon, Christina Fagerberg, Ellen van Binsbergen, Alessandro De Luca, Luigi Memo, William B. Dobyns, Alaa Afif Mohammed, Samuel Clokie, Celia Zazo Seco, Yong-hui Jiang, Kristina P. Sørensen, Helle Andersen, Jennifer A. Sullivan, Zöe Powis, Anna Chassevent, Constance Smith‐Hicks, Slavé Petrovski, Thalia Antoniadi, Vandana Shashi, Bruce D. Gelb, Stephen W. Wilson, Dianne Gerrelli, Marco Tartaglia, Nicolas Chassaing, Patrick Calvas, Nicola Ragge

    Izdano 2019
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  5. 5
    The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes

    The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes od Cynthia J. Curry, Jill A. Rosenfeld, Erica T. Grant, Karen W. Gripp, Carol E. Anderson, Arthur S. Aylsworth, Taha Ben Saad, Victor V. Chizhikov, Giedre Dybose, Christina Fagerberg, M. Falco, Christina Fels, Marco Fichera, Jesper Graakjær, Donatella Greco, Jennifer Hair, Elizabeth Hopkins, Marlene J. Huggins, Roger L. Ladda, Chumei Li, John B. Moeschler, Małgorzata J.M. Nowaczyk, Jillian R. Ozmore, S Reitano, Corrado Romano, Laura Roos, Rhonda E. Schnur, Susan L. Sell, Pim Suwannarat, Dea Svaneby, Marta Szybowska, Mark A. Tarnopolsky, Raymond C. Tervo, Anne Chun‐Hui Tsai, Megan Tucker, Stephanie E. Vallee, Ferrin C. Wheeler, Dina J. Zand, A. James Barkovich, Swaroop Aradhya, Lisa G. Shaffer, William B. Dobyns

    Izdano 2013
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  6. 6
    De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia

    De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia od Hanneke A. Haijes, Maria J.E. Koster, Holger Rehmann, Dong Li, Hákon Hákonarson, Gerarda Cappuccio, Miroslava Hančárová, Daphné Lehalle, William Reardon, G. Bradley Schaefer, Anna Lehman, Ingrid M.B.H. van de Laar, Coranne D. Tesselaar, Clesson Turner, Alice Goldenberg, Sophie Patrier, Julien Thévenon, Michele Pinelli, Nicola Brunetti‐Pierri, Darina Prchalová, Markéta Havlovicová, Markéta Vlčková, Zdeněk Sedláček, Elena Lopez‐Rangel, Vassilis Ragoussis, Alistair T. Pagnamenta, Usha Kini, Harmjan R. Vos, Robert M. van Es, Richard F.M.A. van Schaik, Ton A.J. van Essen, Maria Kibæk, Jenny C. Taylor, Jennifer A. Sullivan, Vandana Shashi, Slavé Petrovski, Christina Fagerberg, Donna M. Martin, Koen L.I. van Gassen, Rolph Pfundt, Marni J. Falk, Elizabeth M. McCormick, H. T. Marc Timmers, Peter M. van Hasselt

    Izdano 2019
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  7. 7
    Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

    Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing od Rea M. Lardelli, Ashleigh E. Schaffer, Veerle Rc Eggens, Maha S. Zaki, Stephanie Grainger, Shashank Sathe, Eric L. Van Nostrand, Zinayida Schlachetzki, Başak Rosti, Naiara Akizu, Eric Scott, Jennifer L. Silhavy, Laura D. Heckman, Rasim Özgür Rosti, Esra Dikoglu, Anne Gregor, Alicia Guemez‐Gamboa, Damir Musaev, Rohit Mande, Ari Widjaja, Timothy Shaw, Sebastian Markmiller, Isaac Marin‐Valencia, Justin H. Davies, Linda De Meırleır, Hülya Kayserili, Umut Altunoğlu, Mary Louise Freckmann, Linda Warwick, David Chitayat, Susan Blasér, Ahmet Okay Çağlayan, Kaya Bilgüvar, Hüseyin Per, Christina Fagerberg, Henrik Thybo Christesen, Maria Kibæk, Kimberly A. Aldinger, David K. Manchester, Naomichi Matsumoto, Kazuhiro Muramatsu, Hirotomo Saitsu, Masaaki Shiina, Kazuhiro Ogata, Nicola Foulds, William B. Dobyns, C. Neil, David Traver, Luigina Spaccini, Stefania Maria Bova, Stacey B. Gabriel, Murat Günel, Enza Maria Valente, Marie‐Cécile Nassogne, Eric J. Bennett, G Yeo, Frank Baas, Jens Lykke‐Andersen, Joseph G. Gleeson

    Izdano 2017
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  8. 8
    Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

    Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes od A. C. Lionel, Kristiina Tammimies, Andrea K. Vaags, Jill A. Rosenfeld, Joo Wook Ahn, Daniele Merico, Abdul Noor, Cassandra Runke, Vamsee Pillalamarri, M. T. Carter, Matthew J. Gazzellone, Bhooma Thiruvahindrapuram, Christina Fagerberg, Lone Walentin Laulund, Giovanna Pellecchia, Sylvia Lamoureux, Charu Deshpande, Jill Clayton‐Smith, A. Clinton White, Susan Leather, J Q Trounce, H. Melanie Bedford, Eli Hatchwell, Peggy S. Eis, Ryan K. C. Yuen, Susan Walker, Mohammed Uddin, Michael T. Geraghty, Sarah M. Nikkel, Eva Tomiak, Bridget A. Fernandez, Noam Soreni, Jennifer Crosbie, Paul Arnold, Russell Schachar, Wendy Roberts, Andrew D. Paterson, Jonathan So, Péter Szatmári, Christina Chrysler, Marc Woodbury‐Smith, R. Brian Lowry, Lonnie Zwaigenbaum, D. Mandyam, John Wei, Jeffrey R. MacDonald, Jennifer Howe, Thomas Nalpathamkalam, Z. Wang, Debbie Tolson, Donna Cobb, Timothy Wilks, Merete Juul Sørensen, Patricia I. Bader, Yu An, Bai-Lin Wu, S Musumeci, Corrado Romano, Diana Postorivo, A. Nardone, Matteo Della Monica, Gioacchino Scarano, Leonardo Zoccante, Francesca Novara, Orsetta Zuffardi, Roberto Ciccone, Vincenzo Antona, Massimo Carella, Leopoldo Zelante, Pietro Cavalli, Carlo Poggiani, Ugo Cavallari, Bob Argiropoulos, Judy Chernos, Charlotte Brasch‐Andersen, Marsha Speevak, Marco Fichera, Caroline Mackie Ogilvie, Ya Shen, JM Hodge, Michael E. Talkowski, Dimitri J. Stavropoulos, Christian R. Marshall, Stephen W. Scherer

    Izdano 2013
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  9. 9
    Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

    Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior od Holly K. Harris, Tojo Nakayama, Jenny Lai, Boxun Zhao, Nikoleta Argyrou, Cynthia S. Gubbels, Aubrie Soucy, Casie A. Genetti, Victoria Suslovitch, Lance H. Rodan, George E. Tiller, Gaëtan Lesca, Karen W. Gripp, Reza Asadollahi, Ada Hamosh, Carolyn Applegate, Peter D. Turnpenny, Marleen Simon, Catharina M.L. Volker‐Touw, Koen L.I. van Gassen, Ellen van Binsbergen, Rolph Pfundt, Thatjana Gardeitchik, Bert B.A. de Vries, LaDonna Immken, Catherine A. Buchanan, Marcia Willing, Tomi L. Toler, Emily Fassi, Laura Baker, Fleur Vansenne, Xiaodong Wang, Julian L. Ambrus, Madeleine Fannemel, Jennifer E. Posey, Emanuele Agolini, Antonio Novelli, Anita Rauch, Paranchai Boonsawat, Christina Fagerberg, Martin J. Larsen, Maria Kibæk, Audrey Labalme, Alice Poisson, Katelyn Payne, Laurence E. Walsh, Kimberly A. Aldinger, Jorune Balciuniene, Cara Skraban, Christopher Gray, Jill R. Murrell, Caleb Bupp, Giulia Pascolini, Paola Grammatico, Martin Broly, Sébastien Küry, Mathilde Nizon, Iqra Ghulam Rasool, Muhammad Yasir Zahoor, Cornelia Kraus, André Reis, Muhammad Aamir Iqbal, Kévin Uguen, Séverine Audebert‐Bellanger, Claude Férec, Sylvia Redon, Janice Baker, Yunhong Wu, Guiseppe Zampino, Steffan Syrbe, Ines Brösse, Rami Abou Jamra, William B. Dobyns, Lilian Cohen, Anne Blomhoff, Cyril Mignot, Boris Keren, Thomas Courtin, Pankaj B. Agrawal, Alan H. Beggs, Timothy W. Yu

    Izdano 2021
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  10. 10
    PEDIA: prioritization of exome data by image analysis

    PEDIA: prioritization of exome data by image analysis od Tzung‐Chien Hsieh, Martin A. Mensah, Jean Tori Pantel, Dione Aguilar, Omri Bar, Allan Bayat, Luis E. Becerra-Solano, Heidi Beate Bentzen, Saskia Biskup, Oleg Borisov, Øivind Braaten, Claudia Ciaccio, Marie Coutelier, Kirsten Cremer, Magdalena Danyel, Svenja Daschkey, Hilda David Eden, Koenraad Devriendt, Sandra Wilson, Sofia Douzgou, Dejan Đukić, Nadja Ehmke, Christine Fauth, Björn Fischer‐Zirnsak, Nicole Fleischer, Heinz Gabriel, Luitgard Graul‐Neumann, Karen W. Gripp, Yaron Gurovich, А.А. Гусина, Nechama Haddad, Nurulhuda Hajjir, Yair Hanani, Jakob Hertzberg, Konstanze Hoertnagel, Janelle Howell, Ivan Ivanovski, Angela M. Kaindl, Tom Kamphans, Susanne Kamphausen, Catherine Karimov, Hadil Kathom, Anna Keryan, Alexej Knaus, Sebastian Köhler, Uwe Kornak, А. В. Лавров, Maximilian Leitheiser, Gholson J. Lyon, Elisabeth Mangold, Purificación Marín Reina, Antonio Martínez Carrascal, Diana Mitter, Laura Morlán Herrador, Guy Nadav, Markus M. Nöthen, Alfredo Orrico, Claus‐Eric Ott, Kristen Park, Borut Peterlin, Laura Pölsler, Annick Raas‐Rothschild, Linda M. Randolph, Nicole Revençu, Christina Fagerberg, Peter Nick Robinson, Stanislav Rosnev, Sabine Rudnik, Goražd Rudolf, Ulrich A. Schatz, Anna Schossig, Max Schubach, Or Shanoon, Eamonn Sheridan, Pola Smirin‐Yosef, Malte Spielmann, Eun-Kyung Suk, Yves Sznajer, Christian T. Thiel, Gundula Thiel, Alain Verloès, Irena Vrečar, Dagmar Wahl, Ingrid Weber, Korina Winter, Marzena Wiśniewska, Bernd Wollnik, Ming Wai Yeung, Max Zhao, Na Zhu, Johannes Zschocke, Stefan Mundlos, Denise Horn, Peter Krawitz

    Izdano 2019
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  11. 11
    CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

    CERT1 mutations perturb human development by disrupting sphingolipid homeostasis od Charlotte Gehin, Museer A. Lone, Winston Lee, Laura Capolupo, Sylvia Ho, Adekemi M. Adeyemi, Erica H. Gerkes, Alexander P.A. Stegmann, Estrella López‐Martín, Eva Bermejo, Beatriz Martı́nez-Delgado, Christiane Zweier, Cornelia Kraus, Bernt Popp, Vincent Strehlow, Daniel Gräfe, Ina Knerr, Eppie R. Jones, Stefano Zamuner, Luciano A. Abriata, Vidya Kunnathully, Brandon E Moeller, Anthony Vocat, Samuel Rommelaere, Jean-Philippe Bocquete, Evelyne Ruchti, Greta Limoni, Marine Van Campenhoudt, Samuel Bourgeat, Petra Henklein, Christian Gilissen, Bregje W.M. van Bon, Rolph Pfundt, Marjolein H. Willemsen, Jolanda Schieving, Emanuela Leonardi, Fiorenza Soli, Alessandra Murgia, Hui Guo, Qiumeng Zhang, Kun Xia, Christina Fagerberg, Christoph P. Beier, Martin J. Larsen, Irene Valenzuela, Paula Fernández‐Álvarez, Shiyi Xiong, Robert Śmigiel, Vanesa López‐González, Lluı́s Armengol, Manuela Morleo, Angelo Selicorni, Annalaura Torella, Moira Blyth, Nicola Cooper, Valerie Wilson, Renske Oegema, Yvan Herenger, Aurore Garde, Ange‐Line Bruel, Frédéric Tran Mau‐Them, Alexis B.R. Maddocks, Jennifer Bain, Musadiq A. Bhat, Gregory Costain, Pekka Kannus, Ashish Marwaha, Neena L. Champaigne, Michael J. Friez, Ellen B. Richardson, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Yask Gupta, Tze Y. Lim, Simone Sanna‐Cherchi, Bruno Lemaître, Toshiyuki Yamaji, Kentaro Hanada, John E. Burke, Ana Marija Jakšić, Brian D. McCabe, Paolo De Los Rios, Thorsten Hornemann, Giovanni D’Angelo, Vincenzo A. Gennarino

    Izdano 2023
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  12. 12
    Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study

    Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study od Sandra Martin-Brevet, Borja Rodríguez‐Herreros, Jared A. Nielsen, Clara Moreau, Claudia Modenato, Anne Maillard, Aurélie Pain, Sonia Richetin, Aia Elise Jønch, Abid Qureshi, Nicole R. Zürcher, Philippe Conus, Wendy K. Chung, Elliott H. Sherr, John E. Spiro, Ferath Kherif, J. Beckmann, Nouchine Hadjikhani, Alexandre Reymond, Randy L. Buckner, Bogdan Draganski, Sébastien Jacquemont, Marie‐Claude Addor, Joris Andrieux, Benoı̂t Arveiler, Geneviève Baujat, Frédérique Sloan‐Béna, Marco Belfiore, Dominique Bonneau, Sonia Bouquillon, Odile Boute, Alfredo Brusco, Tiffany Busa, Jean‐Hubert Caberg, Dominique Campion, Vanessa Colombert, Marie‐Pierre Cordier, Albert David, François‐Guillaume Debray, Marie‐Ange Delrue, Martine Doco‐Fenzy, Ulrike Dunkhase‐Heinl, Patrick Edery, Christina Fagerberg, Laurence Faivre, Francesca Forzano, David Geneviève, Marion Gérard, Daniela Giachino, Agnès Guichet, Olivier Guillin, Delphine Héron, Bertrand Isidor, Aurélia Jacquette, Sylvie Jaillard, Hubert Journel, Boris Keren, Didier Lacombe, Sébastien Lebon, Cédric Le Caignec, M. Lemaître, James Lespinasse, Michèle Mathieu-Dramart, Sandra Mercier, Cyril Mignot, Chantal Missirian, Florence Petit, Kristina P. Sørensen, Lucile Pinson, Ghislaine Plessis, Fabienne Prieur, Caroline Rooryck, Massimiliano Rossi, Damien Sanlaville, Britta Schlott Kristiansen, Caroline Schluth–Bolard, Marianne Till, Mieke M. van Haelst, Lionel Van Maldergem, Hanalore Alupay, Benjamin Aaronson, Sean Ackerman, Katy Ankenman, Ayesha Anwar, Constance Atwell, Alexandra Bowe, Arthur L. Beaudet, Marta Benedetti, Jessica Berg, Jeffrey Berman, Leandra N. Berry, Audrey Bibb, Lisa Blaskey, Jonathan Brennan, Christie M. Brewton, Randy L. Buckner, Polina Bukshpun, Jordan Burko, Phil Cali, Bettina M. Cerban

    Izdano 2018
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  13. 13
    Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

    Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders od Madelyn A. Gillentine, Tianyun Wang, Kendra Hoekzema, Jill A. Rosenfeld, Pengfei Liu, Hui Guo, Chang N. Kim, Bert B. A. De Vries, Lisenka E.L.M. Vissers, Magnus Nordenskjöld, Malin Kvarnung, Anna Lindstrand, Ann Nordgren, Jozef Gécz, 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 S. Atwal, Carlos A. Bacino, Gifty Bhat, Katherine Cobian, Lynne M. Bird, Jennifer Friedman, Meredith S. Wright, Bert Callewaert, Florence Petit, Sophie Mathieu, Alexandra Afenjar, Celanie K. Christensen, Kerry 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, R. Frank Kooy, Marije Meuwissen, Alice Basinger, Mary K. Kukolich, Meredith Philips, Lucia Ortega, Margaret Drummond‐Borg, Mathilde Lauridsen, Kristina Sorensen, Anna Lehman, Elena Lopez‐Rangel, Paul A. Levy, Davor Lessel, Timothy Lotze, Suneeta Madan-Khetarpal, Jessica Sebastian, Jodie M. Vento, Divya Vats, L. Manace Benman, Shane McKee, Ghayda Mirzaa, Candace Muss, John Pappas, Hilde Peeters, Corrado Romano, Maurizio Elia, Ornella Galesi, Marleen Simon, Koen L.I. van Gassen, Kara Simpson, Robert F. Stratton, Shakir Syed, Julien Thévenon, Irene Valenzuela, Antonio Vitobello, Marie Bournez, Laurence Faivre, Kun Xia, John Acampado, J. Andrea, Alpha Amatya, Irina Astrovskaya, Asif Bashar, Elizabeth Brooks

    Izdano 2021
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  14. 14
    Effects of eight neuropsychiatric copy number variants on human brain structure

    Effects of eight neuropsychiatric copy number variants on human brain structure od Claudia Modenato, Kuldeep Kumar, Clara Moreau, Sandra Martin‐Brevet, Guillaume Huguet, Catherine Schramm, Martineau Jean‐Louis, Charles-Olivier Martin, Nadine Younis, Petra Tamer, Élise Douard, Fanny Thébault‐Dagher, Valérie Côté, Audrey-Rose Charlebois, Florence Deguire, Anne Maillard, Borja Rodríguez‐Herreros, Aurélie Pain, Sonia Richetin, Marie‐Claude Addor, Joris Andrieux, Benoı̂t Arveiler, Geneviève Baujat, Frédérique Sloan‐Béna, Marco Belfiore, Dominique Bonneau, Sonia Bouquillon, Odile Boute, Alfredo Brusco, Tiffany Busa, Jean- Hubert Caberg, Dominique Campion, Vanessa Colombert, Marie‐Pierre Cordier, Albert David, François‐Guillaume Debray, Marie‐Ange Delrue, Martine Doco‐Fenzy, Ulrike Dunkhase‐Heinl, Patrick Edery, Christina Fagerberg, Laurence Faivre, Francesca Forzano, David Geneviève, Marion Gérard, Daniela Giachino, Agnès Guichet, Olivier Guillin, Delphine Héron, Bertrand Isidor, Aurélia Jacquette, Sylvie Jaillard, Hubert Journel, Boris Keren, Didier Lacombe, Sébastien Lebon, Cédric Le Caignec, M. Lemaître, James Lespinasse, Michèle Mathieu-Dramart, Sandra Mercier, Cyril Mignot, Chantal Missirian, Florence Petit, Kristina P. Sørensen, Lucile Pinson, Ghislaine Plessis, Fabienne Prieur, Alexandre Raymond, Caroline Rooryck, Massimiliano Rossi, Damien Sanlaville, Britta Schlott Kristiansen, Caroline Schluth–Bolard, Marianne Till, Mieke M. van Haelst, Lionel Van Maldergem, Hanalore Alupay, Benjamin Aaronson, Sean Ackerman, Katy Ankenman, Ayesha Anwar, Constance Atwell, Alexandra Bowe, Arthur L. Beaudet, Marta Benedetti, Jessica Berg, Jeffrey Berman, Leandra N. Berry, Audrey Bibb, Lisa Blaskey, Jonathan Brennan, Christie M. Brewton, Randy L. Buckner, Polina Bukshpun, Jordan Burko, Phil Cali, Bettina M. Cerban, Yi-Shin Chang, Maxwell Cheong

    Izdano 2021
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  15. 15
    De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

    De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias od Katherine L. Helbig, Robert J. Lauerer, Jacqueline C Bahr, Ivana A. Souza, Candace T. Myers, Betül Seher Uysal, Niklas Schwarz, María A. Gandini, Sun Huang, Boris Keren, Cyril Mignot, Alexandra Afenjar, Thierry Billette de Villemeur, Delphine Héron, Caroline Nava, Stéphanie Valence, Julien Buratti, Christina Fagerberg, Kristina P. Soerensen, Maria Kibæk, Erik‐Jan Kamsteeg, David A. Koolen, Boudewijn Gunning, Helenius J. Schelhaas, Michael C. Kruer, Jordana Fox, Somayeh Bakhtiari, Randa Jarrar, Sergio Padilla-López, Kristin Lindstrom, Sheng Chih Jin, Xue Zeng, Kaya Bilgüvar, Antigone Papavasileiou, Qinghe Xing, Changlian Zhu, Katja Boysen, Filippo Pinto e Vairo, Brendan C. Lanpher, Eric W. Klee, Jan‐Mendelt Tillema, Eric T. Payne, Margot A. Cousin, Teresa Kruisselbrink, Myra J. Wick, Joshua Baker, Eric Haan, Nicholas Smith, Azita Sadeghpour, Erica E. Davis, Nicholas Katsanis, Mark Corbett, Alastair H. MacLennan, Jozef Gécz, Saskia Biskup, Eva Goldmann, Lance H. Rodan, Elizabeth Kichula, Eric Segal, Kelly E. Jackson, Alexander Asamoah, David Dimmock, Julie McCarrier, Lorenzo D. Botto, Francis Filloux, Tatiana Tvrdik, Gregory D. Cascino, Sherry Klingerman, Catherine M. Neumann, Raymond Wang, Jessie C. Jacobsen, Melinda Nolan, Russell G. Snell, Klaus Lehnert, Lynette G. Sadleir, Britt‐Marie Anderlid, Malin Kvarnung, Renzo Guerrini, Michael J. Friez, Michael J. Lyons, Jennifer Leonhard, Gabriel Kringlen, Kari Casas, Christelle Moufawad El Achkar, Lacey Smith, Alexander Rotenberg, Annapurna Poduri, Alba Sanchis‐Juan, Keren Carss, Julia Rankin, Adam Zeman, F. Lucy Raymond, Moira Blyth, Bronwyn Kerr, Karla Ruiz, Jill Urquhart, Imelda Hughes, Siddharth Banka, Ulrike B. S. Hedrich, Ingrid E. Scheffer

    Izdano 2018
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  16. 16
    Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders

    Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders od Chelsea Lowther, Mana M. Mehrjouy, Ryan L. Collins, Mads Bak, Olga Dudchenko, Harrison Brand, Zirui Dong, Malene Bøgehus Rasmussen, Huiya Gu, David Weisz, Lusine Nazaryan‐Petersen, Amanda S. Fjorder, Yuan Mang, Allan Lind-Thomsen, Juan M. M. Mendez, Xabier Calle, Anuja Chopra, Claus Hansen, Merete Bugge, Roeland Broekema, Teppo Varilo, Tiia Maria Luukkonen, J.J.M. Engelen, Angela Maria Vianna‐Morgante, Ana Carolina Fonseca, Juliana F. Mazzeu, Halinna Dornelles-Wawruk, Kikue Terada Abe, Joris Vermeesch, Kris Van Den Bogaert, Carolina Sismani, Constantia Aristidou, Paola Evangelidou, Albert Schinzel, Damien Sanlaville, Caroline Schluth–Bolard, Vera M. Kalscheuer, Maren Wenzel, Hyung‐Goo Kim, Katrin Õunap, Laura Roht, Susanna Midyan, María Clara Bonaglia, Anna Lindstrand, Jesper Eisfeldt, Jesper Ottosson, Daniel Nilsson, Maria Pettersson, Elenice Ferreira Bastos, Evica Rajcan‐Separovic, Fatma Sılan, Frenny Sheth, Antonio Novelli, Eirik Frengen, Madeleine Fannemel, Petter Strømme, Nadja Kokalj Vokač, Cornelia Daumer‐Haas, Danilo Moretti‐Ferreira, Deise Helena de Souza, María A. Ramos‐Arroyo, Maria M. Igoa, Lyudmila Angelova, Peter M. Kroisel, Graciela del Rey, Társis Paiva Vieira, M. E. Suzanne Lewis, Hao Wang, Jana Drabova, Markéta Havlovičová, Miroslava Hančárová, Zdeněk Sedláček, Ida Vogel, Tina Duelund Hjortshøj, Rikke S. Møller, Zeynep Tümer, Christina Fagerberg, Lilian Bomme Ousager, Bitten Schönewolf‐Greulich, Mathilde Lauridsen, Juliette Piard, Céline Pebrel‐Richard, Sylvie Jaillard, Nadja Ehmke, Eunice G. Stefanou, Czakó Marta, Kosztolányi György, Ashwin Dalal, Usha R. Dutta, Rashmi Shukla, Fortunato Lonardo, Orsetta Zuffardi, Gunnar Houge, Doriana Misceo, Shahid Mahmood Baig, Alina T. Midro, Natalia Wawrusiewicz‐Kurylonek, Isabel M. Carreira, Joana Barbosa Melo, Laura Rodriguez Martinez

    Izdano 2022
    Polni tekst
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    The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

    The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome od Pleuntje J. van der Sluijs, Sandra Jansen, Samantha A. Schrier Vergano, Miho Adachi-Fukuda, Yasemin Alanay, Adila Al‐Kindy, Anwar Baban, Allan Bayat, Stefanie Beck‐Wödl, Katherine Berry, Emilia K. Bijlsma, Levinus A. Bok, Alwin F.J. Brouwer, Ineke van der Burgt, Philippe M. Campeau, Natalie Canham, Krystyńa Chrzańowska, Yoyo W. Y. Chu, Brain H.Y. Chung, Karin Dahan, Marjan De Rademaeker, Anne Destrèe, Tracy Dudding‐Byth, Rachel K. Earl, Nursel Elçioğlu, Ellen Roy Elias, Christina Fagerberg, Alice Gardham, Blanca Gener, Erica H. Gerkes, Ute Grasshoff, Arie van Haeringen, Karin R. Heitink, Johanna C. Herkert, Nicolette S. den Hollander, Denise Horn, David Hunt, Sarina G. Kant, Mitsuhiro Kato, Hülya Kayserili, Rogier Kersseboom, Esra KAYA KILIÇ, Małgorzata Krajewska‐Walasek, Kylin Lammers, Lone Walentin Laulund, Damien Lederer, Melissa Lees, Vanesa López‐González, Saskia M. Maas, Grazia M.S. Mancini, Carlo Marcelis, Francisco Martı́nez, Isabelle Maystadt, Marianne McGuire, Shane McKee, Sarju Mehta, Kay Metcalfe, Jeff M. Milunsky, Seiji Mizuno, John B. Moeschler, Christian Netzer, Charlotte W. Ockeloen, Barbara Oehl‐Jaschkowitz, Nobuhiko Okamoto, Sharon N.M. Olminkhof, Carmen Orellana, Laurent Pasquier, Caroline Pottinger, Vera Riehmer, Stephen P. Robertson, Maian Roifman, Caroline Rooryck, Fabienne G. Ropers, Mónica Roselló, Claudia Ruivenkamp, Mahmut Şamil Sağıroğlu, Suzanne C.E.H. Sallevelt, A. Sanchís Calvo, Pelin Özlem Şimşek‐Kiper, Gabriela Soares, Lucia Solaeche, Fatma Müjgan Sönmez, Miranda Splitt, Duco Steenbeek, Alexander P.A. Stegmann, Constance T. R. M. Stumpel, Saori Tanabe, Eyyüp Üçtepe, Gülen Eda Ütine, Hermine E. Veenstra‐Knol, Sunita Venkateswaran, Catheline Vilain, Catherine Vincent‐Delorme, Anneke T. Vulto‐van Silfhout, Patricia G. Wheeler, Golder N. Wilson, Louise C. Wilson, Bernd Wollnik, Tomoki Kosho, Dagmar Wieczorek

    Izdano 2018
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