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Items: 8

1.
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
2.
Ahmet Okay Caglayan, Beyhan Tuysuz, Ece Gül, Dilek Uludag Alkaya, Cengiz Yalcinkaya, Joseph G. Gleeson, Kaya Bilguvar, Murat Gunel
J Hum Genet.
Published in final edited form as: J Hum Genet. 2022 Sep; 67(9): 553–556. Published online 2022 Mar 25. doi: 10.1038/s10038-022-01032-1
PMCID:
PMC9420744
3.
Sarah E. Sheppard, Ian M. Campbell, Margaret H. Harr, Nina Gold, Dong Li, Hans T. Bjornsson, Julie S. Cohen, Jill A. Fahrner, Ali Fatemi, Jacqueline R. Harris, Catherine Nowak, Cathy A. Stevens, Katheryn Grand, Margaret Au, John M. Graham, Jr, Pedro A. Sanchez-Lara, Miguel Del Campo, Marilyn C. Jones, Omar Abdul-Rahman, Fowzan S. Alkuraya, Jennifer A. Bassetti, Katherine Bergstrom, Elizabeth Bhoj, Sarah Dugan, Julie D. Kaplan, Nada Derar, Karen W. Gripp, Natalie Hauser, A. Micheil Innes, Beth Keena, Neslida Kodra, Rebecca Miller, Beverly Nelson, Malgorzata J. Nowaczyk, Zuhair Rahbeeni, Shay Ben-Shachar, Joseph T. Shieh, Anne Slavotinek, Andrew K. Sobering, Mary-Alice Abbott, Dawn C. Allain, Louise Amlie-Wolf, Ping Yee Billie Au, Emma Bedoukian, Geoffrey Beek, James Barry, Janet Berg, Jonathan A. Bernstein, Cheryl Cytrynbaum, Brian Hon-Yin Chung, Sarah Donoghue, Naghmeh Dorrani, Alison Eaton, Josue A. Flores-Daboub, Holly Dubbs, Carolyn A. Felix, Chin-To Fong, Jasmine Lee Fong Fung, Balram Gangaram, Amy Goldstein, Rotem Greenberg, Thoa K. Ha, Joseph Hersh, Kosuke Izumi, Staci Kallish, Elijah Kravets, Pui-Yan Kwok, Rebekah K. Jobling, Amy E. Knight Johnson, Jessica Kushner, Bo Hoon Lee, Brooke Levin, Kristin Lindstrom, Kandamurugu Manickam, Rebecca Mardach, Elizabeth McCormick, D. Ross McLeod, Frank D. Mentch, Kelly Minks, Colleen Muraresku, Stanley F. Nelson, Patrizia Porazzi, Pavel N. Pichurin, Nina N. Powell-Hamilton, Zoe Powis, Alyssa Ritter, Caleb Rogers, Luis Rohena, Carey Ronspies, Audrey Schroeder, Zornitza Stark, Lois Starr, Joan Stoler, Pim Suwannarat, Milen Velinov, Rosanna Weksberg, Yael Wilnai, Neda Zadeh, Dina J. Zand, Marni J. Falk, Hakon Hakonarson, Elaine H. Zackai, Fabiola Quintero-Rivera
Am J Med Genet A.
Published in final edited form as: Am J Med Genet A. 2021 Jun; 185(6): 1649–1665. Published online 2021 Mar 30. doi: 10.1002/ajmg.a.62124
PMCID:
PMC8631250
4.
Viera Kútna, Valerie B. O’Leary, Ehren Newman, Cyril Hoschl, Saak V. Ovsepian
Neurotherapeutics. 2021 Apr; 18(2): 845–858. Published online 2021 Jan 4. doi: 10.1007/s13311-020-01000-7
PMCID:
PMC8423952
5.
Yu Tanaka, Naoya Morisada, Tomohiro Suzuki, Yoshitaka Ohashi, Ming Juan Ye, Kandai Nozu, Satoru Tsuruta, Kazumoto Iijima
CEN Case Rep. 2021 May; 10(2): 184–188. Published online 2020 Oct 13. doi: 10.1007/s13730-020-00543-0
PMCID:
PMC8019452
6.
Maartje Pennings, Meyke I. Schouten, Judith van Gaalen, Rowdy P. P. Meijer, Susanne T. de Bot, Marjolein Kriek, Christiaan G. J. Saris, Leonard H. van den Berg, Michael A. van Es, Dick M. H. Zuidgeest, Mariet W. Elting, Jiddeke M. van de Kamp, Karin Y. van Spaendonck-Zwarts, Christine de Die-Smulders, Eva H. Brilstra, Corien C. Verschuuren, Bert B. A. de Vries, Jacques Bruijn, Kalliopi Sofou, Floor A. Duijkers, B. Jaeger, Jolanda H. Schieving, Bart P. van de Warrenburg, Erik-Jan Kamsteeg
Eur J Hum Genet. 2020 Jan; 28(1): 40–49. Published online 2019 Sep 5. doi: 10.1038/s41431-019-0497-z
PMCID:
PMC6906463
7.
Matthieu J Schlögel, Antonella Mendola, Elodie Fastré, Pradeep Vasudevan, Koen Devriendt, Thomy JL de Ravel, Hilde Van Esch, Ingele Casteels, Ignacio Arroyo Carrera, Francesca Cristofoli, Karen Fieggen, Katheryn Jones, Mark Lipson, Irina Balikova, Ami Singer, Maria Soller, María Mercedes Villanueva, Nicole Revencu, Laurence M Boon, Pascal Brouillard, Miikka Vikkula
Orphanet J Rare Dis. 2015; 10: 52. Published online 2015 May 2. doi: 10.1186/s13023-015-0271-4
PMCID:
PMC4464120
8.
Alexandra Herman-Bert, Giovanni Stevanin, Jean-Claude Netter, Olivier Rascol, David Brassat, Patrick Calvas, Agnès Camuzat, Qiu-ping Yuan, Martin Schalling, Alexandra Dürr, Alexis Brice
Am J Hum Genet. 2000 Jul; 67(1): 229–235. Published online 2000 May 11. doi: 10.1086/302958
PMCID:
PMC1287081

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