檢索結果 - Andrea Petersen

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  1. 1
    Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors

    Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors 由 D. Williams Parsons, Angshumoy Roy, Yaping Yang, Tao Wang, Sarah Scollon, Katie Bergstrom, Robin A. Kerstein, Stephanie Gutierrez, Andrea Petersen, Abhishek Bavle, Frank Y. Lin, Dolores López‐Terrada, Federico A. Monzon, John Hicks, Karen W. Eldin, Norma Quintanilla, Adekunle M. Adesina, Carrie Mohila, William E. Whitehead, Andrew Jea, Sanjeev A. Vasudevan, Jed G. Nuchtern, Uma Ramamurthy, Amy L. McGuire, Susan G. Hilsenbeck, Jeffrey G. Reid, Donna M. Muzny, David A. Wheeler, Stacey L. Berg, Murali Chintagumpala, Christine M. Eng, Richard A. Gibbs, Sharon E. Plon

    出版 2016
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  2. 2
    ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model

    ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model 由 Antonio Vitobello, Benoît Mazel, Vera G. Lelianova, Alice Zangrandi, Evelina Petitto, Jason Suckling, Vincenzo Salpietro, Robert E. Meyer, Miriam Elbracht, Ingo Kurth, Thomas Eggermann, Ouafa Benlaouer, Gurprit S. Lall, Alexander Tonevitsky, Daryl A. Scott, Katie Chan, Jill A. Rosenfeld, Sophie Nambot, Hana Safraou, Ange‐Line Bruel, Anne‐Sophie Denommé‐Pichon, Frédéric Tran Mau‐Them, Christophe Philippe, Yannis Duffourd, Hui Guo, Andrea Petersen, Leslie Granger, Amy Crunk, Allan Bayat, Pasquale Striano, Federico Zara, Marcello Scala, Quentin Thomas, Andrée Delahaye‐Duriez, Jean‐Madeleine de Sainte Agathe, Julien Buratti, Serguei Kozlov, Laurence Faivre, Christel Thauvin‐Robinet, Yuri A. Ushkaryov

    出版 2022
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  3. 3
    Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder

    Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder 由 Caroline Dias, Jaya Punetha, Céline Zheng, Neda Mazaheri, Abolfazl Rad, Stéphanie Efthymiou, Andrea Petersen, Mohammadreza Dehghani, Davut Pehli̇van, Jennifer N. Partlow, Jennifer E. Posey, Vincenzo Salpietro, Alper Gezdirici, Reza Azizi Malamiri, Nihal M. Al Menabawy, Laila Selim, Mohammad Yahya Vahidi Mehrjardi, Selina Banu, D.L. Polla, Edward Yang, Jamileh Rezazadeh Varaghchi, Tadahiro Mitani, Ellen van Beusekom, Maryam Najafi, Alireza Sedaghat, Jennifer Keller‐Ramey, L. Kathryn Durham, Zeynep Coban‐Akdemir, Ender Karaca, Valeria V. Orlova, Lieke Schaeken, Amir Sherafat, Shalini N. Jhangiani, Valentina Stanley, Gholamreza Shariati, Hamid Galehdari, Joseph G. Gleeson, Christopher A. Walsh, James R. Lupski, Elena Seiradake, Henry Houlden, Hans van Bokhoven, Reza Maroofian

    出版 2019
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  4. 4
    Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

    Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction 由 Joery den Hoed, Elke de Boer, Norine Voisin, Alexander J.M. Dingemans, Nicolas Guex, Laurens Wiel, Christoffer Nellåker, Shivarajan Amudhavalli, Siddharth Banka, Frédérique Béna, Bruria Ben‐Zeev, Vincent R. Bonagura, Ange‐Line Bruel, Theresa Brunet, Han G. Brunner, Hui Bein Chew, Jacqueline Chrast, Loreta Cimbalistienė, Hilary Coon, Emmanuèlle C. Délot, Florence Démurger, Anne‐Sophie Denommé‐Pichon, Christel Depienne, Dian Donnai, David A. Dyment, Orly Elpeleg, Laurence Faivre, Christian Gilissen, Leslie Granger, Barbara Haber, Yasuo Hachiya, Yasmin Hamzavi Abedi, Jennifer Hanebeck, Jayne Y. Hehir‐Kwa, Brooke Horist, Toshiyuki Itai, Adam Jackson, Rosalyn Jewell, Kelly L. Jones, Shelagh Joss, Hirofumi Kashii, Mitsuhiro Kato, A.A. Kattentidt-Mouravieva, Fernando Kok, Urania Kotzaeridou, V. Krishnamurthy, Vaidutis Kučinskas, A. Kuechler, Alinoë Lavillaureix, P. Liu, Linda Manwaring, Naomichi Matsumoto, B. Mazel, Kirsty McWalter, Vardiella Meiner, Mohamad A. Mikati, Satoko Miyatake, Takeshi Mizuguchi, Lip Hen Moey, Shehla Mohammed, Hagar Mor‐Shaked, Hayley S. Mountford, Ruth Newbury‐Ecob, Sylvie Odent, Laura Orec, Matthew Osmond, Timothy Blake Palculict, Michael Parker, Andrea Petersen, Rolph Pfundt, Eglė Preikšaitienė, Kelly Radtke, Emmanuelle Ranza, Jill A. Rosenfeld, Teresa Santiago‐Sim, C. Schwager, Margje Sinnema, Lot Snijders Blok, Rebecca C. Spillmann, Alexander P.A. Stegmann, Isabelle Thiffault, Linh Tran, Adi Vaknin‐Dembinsky, Juliana H. Vedovato-dos-Santos, Samantha A. Schrier Vergano, Éric Vilain, Antonio Vitobello, Matias Wagner, Androu Waheeb, Marcia Willing, Britton Zuccarelli, Usha Kini, Dianne F. Newbury, Tjitske Kleefstra, Alexandre Reymond, Simon E. Fisher, Lisenka E.L.M. Vissers

    出版 2020
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  5. 5
    <i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation

    <i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation 由 Laura Cif, Diane Demailly, Jean‐Pierre Lin, Katy Barwick, Mario Sa, Lucia Abela, Sony Malhotra, W.K. Chong, Dora Steel, Alba Sanchis-Juan, Adeline Ngoh, Natalie Trump, Esther Meyer, Xavier Vasques, Julia Rankin, Meredith W Allain, Carolyn Applegate, Sanaz Attaripour Isfahani, Julien Baleine, Bettina Balint, Jennifer A. Bassetti, Emma L. Baple, Kailash P. Bhatia, Catherine Blanchet, Lydie Bürglen, Gilles Cambonie, Emilie Chan Seng, Sandra Chantot‐Bastaraud, Fabienne Cyprien, Christine Coubes, Vincent d’Hardemare, Asif Doja, Nathalie Dorison, Diane Doummar, Marisela Dy-Hollins, Ellyn Farrelly, David Fitzpatrick, Conor Fearon, Elizabeth L. Fieg, Brent L. Fogel, Eva Forman, Rachel Fox, William A. Gahl, Serena Galosi, Victoria González, Tracey D. Graves, Allison Gregory, Mark Hallett, Harutomo Hasegawa, Susan J. Hayflick, Ada Hamosh, Marie Hully, Sandra Jansen, Suh Young Jeong, Joel B. Krier, Sidney Krystal, Kishore R. Kumar, Chloé Laurencin, Hane Lee, Gaëtan Lesca, Laurence Lion François, Timothy Lynch, Neil Mahant, Julián A. Martínez-Agosto, Christophe Milési, Kelly A. Mills, M. Mondain, Hugo Morales‐Briceño, John R. Østergaard, Swasti Pal, J. Carl Pallais, Frédérique Pavillard, Pierre-Francois Perrigault, Andrea Petersen, Gustavo Polo, Gaëtan Poulen, Tuula Rinne, Thomas Roujeau, Caleb Rogers, Agathe Roubertie, Michelle Sahagian, Élise Schaefer, Laila Selim, Richard Selway, Nutan Sharma, Rebecca Signer, Ariane Soldatos, David A. Stevenson, Fiona Stewart, Michel Tchan, Ishwar C. Verma, Bert B A de Vries, Jenny L. Wilson, Derek A. Wong, Raghda Mohamed Hesham Zaitoun, Dolly Zhen, Anna Znaczko, Russell C. Dale, Claudio M. de Gusmão, Jennifer Friedman

    出版 2020
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    Artigo
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  6. 6
    Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

    Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction 由 Joery den Hoed, Elke de Boer, Norine Voisin, Alexander J.M. Dingemans, Nicolas Guex, Laurens Wiel, Christoffer Nellåker, Shivarajan Amudhavalli, Siddharth Banka, Frédérique Béna, Bruria Ben‐Zeev, Vincent R. Bonagura, Ange‐Line Bruel, Theresa Brunet, Han G. Brunner, Hui Bein Chew, Jacqueline Chrast, Loreta Cimbalistienė, Hilary Coon, Emmanuèlle C. Délot, Florence Démurger, Anne‐Sophie Denommé‐Pichon, Christel Depienne, Dian Donnai, David A. Dyment, Orly Elpeleg, Laurence Faivre, Christian Gilissen, Leslie Granger, Benjamin Haber, Yasuo Hachiya, Yasmin Hamzavi Abedi, Jennifer Hanebeck, Jayne Y. Hehir‐Kwa, Brooke Horist, Toshiyuki Itai, Adam Jackson, Rosalyn Jewell, Kelly L. Jones, Shelagh Joss, Hirofumi Kashii, Mitsuhiro Kato, Anja A. Kattentidt‐Mouravieva, Fernando Kok, Urania Kotzaeridou, Vidya Krishnamurthy, Vaidutis Kučinskas, Alma Kuechler, Alinoë Lavillaureix, Pengfei Liu, Linda Manwaring, Naomichi Matsumoto, Benoît Mazel, Kirsty McWalter, Vardiella Meiner, Mohamad A. Mikati, Satoko Miyatake, Takeshi Mizuguchi, Lip Hen Moey, Shehla Mohammed, Hagar Mor‐Shaked, Hayley S. Mountford, Ruth Newbury‐Ecob, Sylvie Odent, Laura Orec, Matthew Osmond, Timothy Blake Palculict, Michael Parker, Andrea Petersen, Rolph Pfundt, Eglė Preikšaitienė, Kelly Radtke, Emmanuelle Ranza, Jill A. Rosenfeld, Teresa Santiago‐Sim, Caitlin Schwager, Margje Sinnema, Lot Snijders Blok, Rebecca C. Spillmann, Alexander P.A. Stegmann, Isabelle Thiffault, Linh Tran, Adi Vaknin‐Dembinsky, Juliana H. Vedovato-dos-Santos, Samantha A. Schrier Vergano, Éric Vilain, Antonio Vitobello, Matias Wagner, Androu Waheeb, Marcia Willing, Britton Zuccarelli, Usha Kini, Dianne F. Newbury, Tjitske Kleefstra, Alexandre Reymond, Simon E. Fisher, Lisenka E.L.M. Vissers

    出版 2021
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  7. 7
    Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

    Spliceosome malfunction causes neurodevelopmental disorders with overlapping features 由 Dong Li, Qin Wang, Allan Bayat, Mark R. Battig, Yijing Zhou, Daniëlle G.M. Bosch, Gijs van Haaften, Leslie Granger, Andrea Petersen, Luis A. Pérez‐Jurado, Gemma Aznar-Laín, Anushree Aneja, Miroslava Hančárová, Šárka Bendová, Martin Schwarz, Radka Kremlíková Pourová, Zdeněk Sedláček, Beth Keena, Michael March, Cuiping Hou, Nora O’Connor, Elizabeth Bhoj, Margaret Harr, Gabrielle Lemire, Kym M. Boycott, Meghan C. Towne, Megan Li, Mark A. Tarnopolsky, Lauren Brady, Michael Parker, Hanna Faghfoury, Lea Kristin Parsley, Emanuele Agolini, Maria Lisa Dentici, Antonio Novelli, Meredith S. Wright, Rachel Palmquist, Khanh Lai, Marcello Scala, Pasquale Striano, Michele Iacomino, Federico Zara, Annina H. Cooper, Timothy J. Maarup, Melissa Byler, Robert Roger Lebel, Tuğçe B. Balcı, Raymond J. Louie, Michael J. Lyons, Jessica Douglas, C. Nowak, Alexandra Afenjar, Juliane Hoyer, Boris Keren, Saskia M. Maas, M. Mahdi Motazacker, Julián A. Martínez-Agosto, Ahna M. Rabani, Elizabeth M. McCormick, Marni J. Falk, Sarah M. Ruggiero, Ingo Helbig, Rikke S. Møller, Lino Tessarollo, Francesco Tomassoni‐Ardori, Mary Ellen Palko, Tzung‐Chien Hsieh, Peter Krawitz, Mythily Ganapathi, Bruce D. Gelb, Vaidehi Jobanputra, Ashley Wilson, John M. Greally, Sébastien Jacquemont, Khadijé Jizi, Ange‐Line Bruel, Chloé Quēlin, Vinod K. Misra, Erika Chick, Corrado Romano, Donatella Greco, Alessia Arena, Manuela Morleo, Vincenzo Nigro, Rie Seyama, Yuri Uchiyama, Naomichi Matsumoto, Ryoji Taira, Katsuya Tashiro, Yasunari Sakai, Gökhan Yigit, Bernd Wollnik, Michael Wagner, Barbara Kutsche, Anna Hurst, Michelle L. Thompson, Ryan Schmidt, Linda M. Randolph, Rebecca C. Spillmann, Vandana Shashi

    出版 2023
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