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Items: 1 to 20 of 68

1.
Jagadish Chandrabose Sundaramurthi, Anita M. Bagley, Hannah Blau, Leigh Carmody, Amy Crandall, Daniel Danis, Michael A. Gargano, Anxhela Gjyshi Gustafson, Ellen M. Raney, Mallory Shingle, Jon R. Davids, Peter N. Robinson
Cold Spring Harb Mol Case Stud. 2023 Dec; 9(4): a006293. doi: 10.1101/mcs.a006293
PMCID:
PMC10815282
2.
Snehal Shah, Sara M. Sarasua, Luigi Boccuto, Brian C. Dean, Liangjiang Wang
Genes (Basel) 2023 Nov; 14(11): 1998. Published online 2023 Oct 26. doi: 10.3390/genes14111998
PMCID:
PMC10671420
3.
Linxue Meng, Dishu Huang, Lingling Xie, Xiaojie Song, Hanyu Luo, Jianxiong Gui, Ran Ding, Xiaofang Zhang, Li Jiang
BMC Med Genomics. 2023; 16: 292. Published online 2023 Nov 16. doi: 10.1186/s12920-023-01728-z
PMCID:
PMC10652482
4.
Léa Broca-Brisson, Rania Harati, Clémence Disdier, Orsolya Mozner, Romane Gaston-Breton, Auriane Maïza, Narciso Costa, Anne-Cécile Guyot, Balazs Sarkadi, Agota Apati, Matthew R Skelton, Lucie Madrange, Frank Yates, Jean Armengaud, Rifat Hamoudi, Aloïse Mabondzo
eLife. 2023; 12: RP88459. Published online 2023 Oct 13. doi: 10.7554/eLife.88459
PMCID:
PMC10575631
5.
Gianluca D’Onofrio, Andrea Accogli, Mariasavina Severino, Haluk Caliskan, Tomislav Kokotović, Antonela Blazekovic, Kristina Gotovac Jercic, Silvana Markovic, Tamara Zigman, Krnjak Goran, Nina Barišić, Vlasta Duranovic, Ana Ban, Fran Borovecki, Danijela Petković Ramadža, Ivo Barić, Walid Fazeli, Peter Herkenrath, Carla Marini, Roberta Vittorini, Vykuntaraju Gowda, Arjan Bouman, Clarissa Rocca, Issam Azmi Alkhawaja, Bibi Nazia Murtaza, Malik Mujaddad Ur Rehman, Chadi Al Alam, Gisele Nader, Maria Margherita Mancardi, Thea Giacomini, Siddharth Srivastava, Javeria Raza Alvi, Hoda Tomoum, Sara Matricardi, Michele Iacomino, Antonella Riva, Marcello Scala, Francesca Madia, Angela Pistorio, Vincenzo Salpietro, Carlo Minetti, Jean-Baptiste Rivière, Myriam Srour, Stephanie Efthymiou, Reza Maroofian, Henry Houlden, Sonja Catherine Vernes, Federico Zara, Pasquale Striano, Vanja Nagy
Hum Genet. 2023; 142(7): 909–925. Published online 2023 May 14. doi: 10.1007/s00439-023-02552-2
PMCID:
PMC10329570
6.
Wendy K Chung, Timothy PL Roberts, Elliott H Sherr, LeeAnne Green Snyder, John E Spiro
Curr Opin Genet Dev.
Published in final edited form as: Curr Opin Genet Dev. 2021 Jun; 68: 49–56. Published online 2021 Mar 2. doi: 10.1016/j.gde.2021.01.011
PMCID:
PMC10256135
7.
王 晓乐, 田 亚男, 陈 晨, 彭 镜
Zhongguo Dang Dai Er Ke Za Zhi. 2023 May 15; 25(5): 489–496. Chinese. doi: 10.7499/j.issn.1008-8830.2301054
PMCID:
PMC10247193
8.
Robyn Whitney, Puneet Jain, Rajesh RamachandranNair, Kevin C. Jones, Hassan Kiani, Mark Tarnopolsky, Brandon Meaney
Epilepsia Open. 2023 Jun; 8(2): 623–632. Published online 2023 Apr 24. doi: 10.1002/epi4.12747
PMCID:
PMC10235173
9.
Lisa Pavinato, Andrea Delle Vedove, Diana Carli, Marta Ferrero, Silvia Carestiato, Jennifer L Howe, Emanuele Agolini, Domenico A Coviello, Ingrid van de Laar, Ping Yee Billie Au, Eleonora Di Gregorio, Alessandra Fabbiani, Susanna Croci, Maria Antonietta Mencarelli, Lucia P Bruno, Alessandra Renieri, Danai Veltra, Christalena Sofocleous, Laurence Faivre, Benoit Mazel, Hana Safraou, Anne-Sophie Denommé-Pichon, Marjon A van Slegtenhorst, Noor Giesbertz, Richard H van Jaarsveld, Anna Childers, R Curtis Rogers, Antonio Novelli, Silvia De Rubeis, Joseph D Buxbaum, Stephen W Scherer, Giovanni Battista Ferrero, Brunhilde Wirth, Alfredo Brusco
Brain. 2023 Feb; 146(2): 534–548. Published online 2022 Jul 27. doi: 10.1093/brain/awac278
PMCID:
PMC10169411
10.
Jianlong Zhuang, Meihua Xie, Jianfeng Yao, Wanyu Fu, Shuhong Zeng, Yuying Jiang, Yuanbai Wang, Yingjun Xie, Gaoxiong Wang, Chunnuan Chen
BMC Med Genomics. 2023; 16: 3. Published online 2023 Jan 9. doi: 10.1186/s12920-023-01433-x
PMCID:
PMC9830755
11.
Hadia Hijazi, Linda M. Reis, Davut Pehlivan, Jonathan A. Bernstein, Michael Muriello, Erin Syverson, Devon Bonner, Mehrdad A. Estiar, Ziv Gan-Or, Guy A. Rouleau, Ekaterina Lyulcheva, Lynn Greenhalgh, Marine Tessarech, Estelle Colin, Agnès Guichet, Dominique Bonneau, R.H. van Jaarsveld, A.M.A. Lachmeijer, Lyse Ruaud, Jonathan Levy, Anne-Claude Tabet, Rafal Ploski, Małgorzata Rydzanicz, Łukasz Kępczyński, Katarzyna Połatyńska, Yidan Li, Jawid M. Fatih, Dana Marafi, Jill A. Rosenfeld, Zeynep Coban-Akdemir, Weimin Bi, Richard A. Gibbs, Grace M. Hobson, Jill V. Hunter, Claudia M.B. Carvalho, Jennifer E. Posey, Elena V. Semina, James R. Lupski
Am J Hum Genet. 2022 Dec 1; 109(12): 2270–2282. Published online 2022 Nov 10. doi: 10.1016/j.ajhg.2022.10.007
PMCID:
PMC9748253
12.
Elsa Leitão, Christopher Schröder, Ilaria Parenti, Carine Dalle, Agnès Rastetter, Theresa Kühnel, Alma Kuechler, Sabine Kaya, Bénédicte Gérard, Elise Schaefer, Caroline Nava, Nathalie Drouot, Camille Engel, Juliette Piard, Bénédicte Duban-Bedu, Laurent Villard, Alexander P. A. Stegmann, Els K. Vanhoutte, Job A. J. Verdonschot, Frank J. Kaiser, Frédéric Tran Mau-Them, Marcello Scala, Pasquale Striano, Suzanna G. M. Frints, Emanuela Argilli, Elliott H. Sherr, Fikret Elder, Julien Buratti, Boris Keren, Cyril Mignot, Delphine Héron, Jean-Louis Mandel, Jozef Gecz, Vera M. Kalscheuer, Bernhard Horsthemke, Amélie Piton, Christel Depienne
Nat Commun. 2022; 13: 6570. Published online 2022 Nov 2. doi: 10.1038/s41467-022-34264-y
PMCID:
PMC9630267
13.
Maria B. Christensen, Amanda M. Levy, Nazanin A. Mohammadi, Marcello Niceta, Rauan Kaiyrzhanov, Maria Lisa Dentici, Chadi Al Alam, Viola Alesi, Valérie Benoit, Kailash P. Bhatia, Tatjana Bierhals, Christian M. Boßelmann, Julien Buratti, Bert Callewaert, Berten Ceulemans, Perrine Charles, Matthias De Wachter, Mohammadreza Dehghani, Erika D'haenens, Martine Doco‐Fenzy, Michaela Geßner, Cyrielle Gobert, Ulviyya Guliyeva, Tobias B. Haack, Trine B. Hammer, Tilman Heinrich, Maja Hempel, Theresia Herget, Ute Hoffmann, Judit Horvath, Henry Houlden, Boris Keren, Christina Kresge, Candy Kumps, Damien Lederer, Alban Lermine, Francesca Magrinelli, Reza Maroofian, Mohammad Yahya Vahidi Mehrjardi, Mahdiyeh Moudi, Amelie J. Müller, Anna J. Oostra, Beth A. Pletcher, David Ros‐Pardo, Shanika Samarasekera, Marco Tartaglia, Kristof Van Schil, Julie Vogt, Evangeline Wassmer, Juliane Winkelmann, Maha S. Zaki, Michael Zech, Holger Lerche, Francesca Clementina Radio, Paulino Gomez‐Puertas, Rikke S. Møller, Zeynep Tümer
Clin Genet. 2022 Aug; 102(2): 98–109. Published online 2022 Jun 8. doi: 10.1111/cge.14165
PMCID:
PMC9546172
14.
Ruchi Punatar, Alena Egense, Rong Mao, Melinda Procter, Michelle Bosworth, Denise I. Quigley, Kathleen Angkustsiri, Suma P. Shankar
Mol Genet Genomic Med. 2022 Oct; 10(10): e2018. Published online 2022 Aug 4. doi: 10.1002/mgg3.2018
PMCID:
PMC9544204
15.
Marwan K. Tayeh, Janean DeVaul, Kristin LeSueur, Chen Yang, Jirair K. Bedoyan, Peedikayil Thomas, Mark C. Hannibal, Jeffrey W. Innis
Am J Med Genet A. 2022 Jul; 188(7): 2209–2216. Published online 2022 Apr 1. doi: 10.1002/ajmg.a.62752
PMCID:
PMC9321834
16.
Aaron F. Alexander-Bloch, Christopher J. McDougle, Zhanna Ullman, David A. Sweetser
Psychiatr Genet.
Published in final edited form as: Psychiatr Genet. 2016 Jun; 26(3): 101–108. doi: 10.1097/YPG.0000000000000128
PMCID:
PMC9317176
17.
Aguan D. Wei, Paul Wakenight, Theresa A. Zwingman, Angela M. Bard, Nikhil Sahai, Marjolein H. Willemsen, Helenius J. Schelhaas, Alexander P. A. Stegmann, Judith S. Verhoeven, Stella A. de Man, Marja W. Wessels, Tjitske Kleefstra, Deepali N. Shinde, Katherine L. Helbig, Alice Basinger, Victoria F. Wagner, David Rodriguez-Buritica, Emily Bryant, John J. Millichap, Kathleen J. Millen, William B. Dobyns, Jan-Marino Ramirez, Franck K. Kalume
J Neurophysiol. 2022 Jul 1; 128(1): 40–61. Published online 2022 May 18. doi: 10.1152/jn.00509.2021
PMCID:
PMC9236882
18.
Jessica A. Cooley Coleman, Sara M. Sarasua, Hannah Warren Moore, Luigi Boccuto, Christopher W. Cowan, Steven A. Skinner, Jane M. DeLuca
Mol Genet Genomic Med. 2022 Jun; 10(6): e1919. Published online 2022 Apr 13. doi: 10.1002/mgg3.1919
PMCID:
PMC9184670
19.
Hidenori Ito, Koh-ichi Nagata
Cells. 2022 Jan; 11(2): 303. Published online 2022 Jan 17. doi: 10.3390/cells11020303
PMCID:
PMC8774548
20.
Marjolein J. A. Weerts, Kristina Lanko, Francisco J. Guzmán-Vega, Adam Jackson, Reshmi Ramakrishnan, Kelly J. Cardona-Londoño, Karla A. Peña-Guerra, Yolande van Bever, Barbara W. van Paassen, Anneke Kievit, Marjon van Slegtenhorst, Nicholas M. Allen, Caroline M. Kehoe, Hannah K. Robinson, Lewis Pang, Selina H. Banu, Mashaya Zaman, Stephanie Efthymiou, Henry Houlden, Irma Järvelä, Leena Lauronen, Tuomo Määttä, Isabelle Schrauwen, Suzanne M. Leal, Claudia A. L. Ruivenkamp, Daniela Q.C.M. Barge-Schaapveld, Cacha M. P. C. D. Peeters-Scholte, Hamid Galehdari, Neda Mazaheri, Sanjay M. Sisodiya, Victoria Harrison, Angela Sun, Jenny Thies, Luis Alberto Pedroza, Yana Lara-Taranchenko, Ivan K. Chinn, James R. Lupski, Alexandra Garza-Flores, Jeffery McGlothlin, Lin Yang, Shaoping Huang, Xiaodong Wang, Tamison Jewett, Gretchen Rosso, Xi Lin, Shehla Mohammed, J. Lawrence Merritt, II, Ghayda M. Mirzaa, Andrew E. Timms, Joshua Scheck, Mariet W. Elting, Abeltje M. Polstra, Lauren Schenck, Maura R. Z. Ruzhnikov, Annalisa Vetro, Martino Montomoli, Renzo Guerrini, Daniel C. Koboldt, Theresa Mihalic Mosher, Matthew T. Pastore, Kim L. McBride, Jing Peng, Zou Pan, Marjolein Willemsen, Susanne Koning, Peter D. Turnpenny, Bert B. A. de Vries, Christian Gilissen, Rolph Pfundt, Melissa Lees, Stephen R. Braddock, Kara C. Klemp, Fleur Vansenne, Marielle E. van Gijn, Catherine Quindipan, Matthew A. Deardorff, J. Austin Hamm, Abbey M. Putnam, Rebecca Baud, Laurence Walsh, Sally A. Lynch, Julia Baptista, Richard E. Person, Kristin G. Monaghan, Amy Crunk, Jennifer Keller-Ramey, Adi Reich, Houda Zghal Elloumi, Marielle Alders, Jennifer Kerkhof, Haley McConkey, Sadegheh Haghshenas, Genomics England Research Consortium, Reza Maroofian, Bekim Sadikovic, Siddharth Banka, Stefan T. Arold, Tahsin Stefan Barakat
Genet Med. 2021; 23(11): 2122–2137. Published online 2021 Aug 3. doi: 10.1038/s41436-021-01246-2
PMCID:
PMC8553606

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