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1.
Ambra Butera, Antonio Gennaro Nicotera, Gabriella Di Rosa, Sebastiano Antonino Musumeci, Girolamo Aurelio Vitello, Antonino Musumeci, Mirella Vinci, Angelo Gloria, Concetta Federico, Salvatore Saccone, Francesco Calì
Int J Mol Sci. 2022 Dec; 23(24): 16130. Published online 2022 Dec 17. doi: 10.3390/ijms232416130
PMCID:
PMC9783151
2.
Cheonghwa Lee, Jung Yoon, Borae G. Park, Baik-Lin Eun, Jung Ah Kwon
Mol Syndromol. 2022 Jul; 13(4): 318–322. Published online 2022 Mar 9. doi: 10.1159/000520207
PMCID:
PMC9421687
3.
Hyung-Goo Kim, Jill A. Rosenfeld, Daryl A. Scott, Gerard Bénédicte, Jonathan D. Labonne, Jason Brown, Marianne McGuire, Sonal Mahida, Sakkubai Naidu, Jacqueline Gutierrez, Gaetan Lesca, Vincent des Portes, Ange-Line Bruel, Arthur Sorlin, Fan Xia, Yline Capri, Eric Muller, Dianalee McKnight, Erin Torti, Franz Rüschendorf, Oliver Hummel, Zeyaul Islam, Prasanna R. Kolatkar, Lawrence C. Layman, Duchwan Ryu, Il-Keun Kong, Suneeta Madan-Khetarpal, Cheol-Hee Kim
Mol Autism. 2019; 10: 35. Published online 2019 Oct 22. doi: 10.1186/s13229-019-0286-0
PMCID:
PMC6805429
4.
Kohei Hamanaka, Yuji Sugawara, Takeyoshi Shimoji, Tone Irene Nordtveit, Mitsuhiro Kato, Mitsuko Nakashima, Hirotomo Saitsu, Toshimitsu Suzuki, Kazuhiro Yamakawa, Ingvild Aukrust, Gunnar Houge, Satomi Mitsuhashi, Atsushi Takata, Kazuhiro Iwama, Ahmed Alkanaq, Atsushi Fujita, Eri Imagawa, Takeshi Mizuguchi, Noriko Miyake, Satoko Miyatake, Naomichi Matsumoto
Eur J Hum Genet. 2019 Mar; 27(3): 378–383. Published online 2018 Nov 28. doi: 10.1038/s41431-018-0289-x
PMCID:
PMC6460561
5.
Robert S. Porter, Yumie Murata-Nakamura, Hajime Nagasu, Hyung-Goo Kim, Shigeki Iwase
Neuroscience.
Published in final edited form as: Neuroscience. 2018 Feb 1; 370: 170–180. Published online 2017 May 29. doi: 10.1016/j.neuroscience.2017.05.031
PMCID:
PMC5708152
6.
Kagnew Hailesellasse Sene, Christopher J Porter, Gareth Palidwor, Carolina Perez-Iratxeta, Enrique M Muro, Pearl A Campbell, Michael A Rudnicki, Miguel A Andrade-Navarro
BMC Genomics. 2007; 8: 85. Published online 2007 Mar 29. doi: 10.1186/1471-2164-8-85
PMCID:
PMC1851713
7.
Xueya Zhou, Pamela Feliciano, Chang Shu, Tianyun Wang, Irina Astrovskaya, Jacob B. Hall, Joseph U. Obiajulu, Jessica R. Wright, Shwetha C. Murali, Simon Xuming Xu, Leo Brueggeman, Taylor R. Thomas, Olena Marchenko, Christopher Fleisch, Sarah D. Barns, LeeAnne Green Snyder, Bing Han, Timothy S. Chang, Tychele N. Turner, William T. Harvey, Andrew Nishida, Brian J. O’Roak, Daniel H. Geschwind, The SPARK Consortium, Jacob J. Michaelson, Natalia Volfovsky, Evan E. Eichler, Yufeng Shen, Wendy K. Chung
Nat Genet. 2022; 54(9): 1305–1319. Published online 2022 Aug 18. doi: 10.1038/s41588-022-01148-2
PMCID:
PMC9470534
8.
F. Kyle Satterstrom, Jack A. Kosmicki, Jiebiao Wang, Michael S. Breen, Silvia De Rubeis, Joon-Yong An, Minshi Peng, Ryan Collins, Jakob Grove, Lambertus Klei, Christine Stevens, Jennifer Reichert, Maureen S. Mulhern, Mykyta Artomov, Sherif Gerges, Brooke Sheppard, Xinyi Xu, Aparna Bhaduri, Utku Norman, Harrison Brand, Grace Schwartz, Rachel Nguyen, Elizabeth E. Guerrero, Caroline Dias, Autism Sequencing Consortium, and iPSYCH-Broad Consortium, Catalina Betancur, Edwin H. Cook, Louise Gallagher, Michael Gill, James S. Sutcliffe, Audrey Thurm, Michael E. Zwick, Anders D. Børglum, Matthew W. State, A. Ercument Cicek, Michael E. Talkowski, David J. Cutler, Bernie Devlin, Stephan J. Sanders, Kathryn Roeder, Mark J. Daly, Joseph D. Buxbaum
Cell.
Published in final edited form as: Cell. 2020 Feb 6; 180(3): 568–584.e23. Published online 2020 Jan 23. doi: 10.1016/j.cell.2019.12.036
PMCID:
PMC7250485
9.
Andrijana Klajn, Carmelo Ferrai, Laura Stucchi, Ilaria Prada, Paola Podini, Tadashi Baba, Mariano Rocchi, Jacopo Meldolesi, Rosalba D'Alessandro
J Neurosci. 2009 May 13; 29(19): 6296–6307. doi: 10.1523/JNEUROSCI.5943-08.2009
PMCID:
PMC6665498
10.
Fei Lan, Robert E. Collins, Rossella De Cegli, Roman Alpatov, John R. Horton, Xiaobing Shi, Or Gozani, Xiaodong Cheng, Yang Shi
Nature.
Published in final edited form as: Nature. 2007 Aug 9; 448(7154): 718–722. doi: 10.1038/nature06034
PMCID:
PMC2702779
11.
Hyung-Goo Kim, Hyun-Taek Kim, Natalia T. Leach, Fei Lan, Reinhard Ullmann, Asli Silahtaroglu, Ingo Kurth, Anja Nowka, Ihn Sik Seong, Yiping Shen, Michael E. Talkowski, Douglas Ruderfer, Ji-Hyun Lee, Caron Glotzbach, Kyungsoo Ha, Susanne Kjaergaard, Alex V. Levin, Bernd F. Romeike, Tjitske Kleefstra, Oliver Bartsch, Sarah H. Elsea, Ethylin Wang Jabs, Marcy E. MacDonald, David J. Harris, Bradley J. Quade, Hans-Hilger Ropers, Lisa G. Shaffer, Kerstin Kutsche, Lawrence C. Layman, Niels Tommerup, Vera M. Kalscheuer, Yang Shi, Cynthia C. Morton, Cheol-Hee Kim, James F. Gusella
Am J Hum Genet. 2012 Jul 13; 91(1): 56–72. doi: 10.1016/j.ajhg.2012.05.005
PMCID:
PMC3397276
12.
Mohamed-Ali Hakimi, Daniel A. Bochar, Josh Chenoweth, William S. Lane, Gail Mandel, Ramin Shiekhattar
Proc Natl Acad Sci U S A. 2002 May 28; 99(11): 7420–7425. doi: 10.1073/pnas.112008599
PMCID:
PMC124246
13.
Silvia De Rubeis, Xin He, Arthur P. Goldberg, Christopher S. Poultney, Kaitlin Samocha, A Ercument Cicek, Yan Kou, Li Liu, Menachem Fromer, Susan Walker, Tarjinder Singh, Lambertus Klei, Jack Kosmicki, Shih-Chen Fu, Branko Aleksic, Monica Biscaldi, Patrick F. Bolton, Jessica M. Brownfeld, Jinlu Cai, Nicholas J. Campbell, Angel Carracedo, Maria H. Chahrour, Andreas G. Chiocchetti, Hilary Coon, Emily L. Crawford, Lucy Crooks, Sarah R. Curran, Geraldine Dawson, Eftichia Duketis, Bridget A. Fernandez, Louise Gallagher, Evan Geller, Stephen J. Guter, R. Sean Hill, Iuliana Ionita-Laza, Patricia Jimenez Gonzalez, Helena Kilpinen, Sabine M. Klauck, Alexander Kolevzon, Irene Lee, Jing Lei, Terho Lehtimäki, Chiao-Feng Lin, Avi Ma'ayan, Christian R. Marshall, Alison L. McInnes, Benjamin Neale, Michael J. Owen, Norio Ozaki, Mara Parellada, Jeremy R. Parr, Shaun Purcell, Kaija Puura, Deepthi Rajagopalan, Karola Rehnström, Abraham Reichenberg, Aniko Sabo, Michael Sachse, Stephan J. Sanders, Chad Schafer, Martin Schulte-Rüther, David Skuse, Christine Stevens, Peter Szatmari, Kristiina Tammimies, Otto Valladares, Annette Voran, Li-San Wang, Lauren A. Weiss, A. Jeremy Willsey, Timothy W. Yu, Ryan K.C. Yuen, the DDD Study, Homozygosity Mapping Collaborative for Autism, UK10K Consortium, the Autism Sequencing Consortium, Edwin H. Cook, Christine M. Freitag, Michael Gill, Christina M. Hultman, Thomas Lehner, Aarno Palotie, Gerard D. Schellenberg, Pamela Sklar, Matthew W. State, James S. Sutcliffe, Christopher A. Walsh, Stephen W. Scherer, Michael E. Zwick, Jeffrey C. Barrett, David J. Cutler, Kathryn Roeder, Bernie Devlin, Mark J. Daly, Joseph D. Buxbaum
Nature.
Published in final edited form as: Nature. 2014 Nov 13; 515(7526): 209–215. Published online 2014 Oct 29. doi: 10.1038/nature13772
PMCID:
PMC4402723
14.
Radhika A Varier, Nikolay S Outchkourov, Petra de Graaf, Frederik M A van Schaik, Henk Jan L Ensing, Fangwei Wang, Jonathan M G Higgins, Geert J P L Kops, HTh Marc Timmers
EMBO J. 2010 Dec 1; 29(23): 3967–3978. Published online 2010 Oct 15. doi: 10.1038/emboj.2010.261
PMCID:
PMC3020634
15.
Nima Mosammaparast, Haeyoung Kim, Benoit Laurent, Yu Zhao, Hui Jun Lim, Mona C. Majid, Sebastian Dango, Yuying Luo, Kristina Hempel, Mathew E. Sowa, Steven P. Gygi, Hanno Steen, J. Wade Harper, Bruce Yankner, Yang Shi
J Cell Biol. 2013 Nov 11; 203(3): 457–470. doi: 10.1083/jcb.201302092
PMCID:
PMC3824007
16.
Cathy E. Elks, John R.B. Perry, Patrick Sulem, Daniel I. Chasman, Nora Franceschini, Chunyan He, Kathryn L. Lunetta, Jenny A. Visser, Enda M. Byrne, Diana L. Cousminer, Daniel F. Gudbjartsson, Tõnu Esko, Bjarke Feenstra, Jouke-Jan Hottenga, Daniel L. Koller, Zoltán Kutalik, Peng Lin, Massimo Mangino, Mara Marongiu, Patrick F. McArdle, Albert V. Smith, Lisette Stolk, Sophie W. van Wingerden, Jing Hua Zhao, Eva Albrecht, Tanguy Corre, Erik Ingelsson, Caroline Hayward, Patrik K.E. Magnusson, Erin N. Smith, Shelia Ulivi, Nicole M. Warrington, Lina Zgaga, Helen Alavere, Najaf Amin, Thor Aspelund, Stefania Bandinelli, Ines Barroso, Gerald S. Berenson, Sven Bergmann, Hannah Blackburn, Eric Boerwinkle, Julie E. Buring, Fabio Busonero, Harry Campbell, Stephen J. Chanock, Wei Chen, Marilyn C. Cornelis, David Couper, Andrea D. Coviello, Pio d’Adamo, Ulf de Faire, Eco J.C. de Geus, Panos Deloukas, Angela Döring, George Davey Smith, Douglas F. Easton, Gudny Eiriksdottir, Valur Emilsson, Johan Eriksson, Luigi Ferrucci, Aaron R. Folsom, Tatiana Foroud, Melissa Garcia, Paolo Gasparini, Frank Geller, Christian Gieger, The GIANT Consortium, Vilmundur Gudnason, Per Hall, Susan E. Hankinson, Liana Ferreli, Andrew C. Heath, Dena G. Hernandez, Albert Hofman, Frank B. Hu, Thomas Illig, Marjo-Riitta Järvelin, Andrew D. Johnson, David Karasik, Kay-Tee Khaw, Douglas P. Kiel, Tuomas O. Kilpeläinen, Ivana Kolcic, Peter Kraft, Lenore J. Launer, Joop S.E. Laven, Shengxu Li, Jianjun Liu, Daniel Levy, Nicholas G. Martin, Wendy L. McArdle, Mads Melbye, Vincent Mooser, Jeffrey C. Murray, Sarah S. Murray, Michael A. Nalls, Pau Navarro, Mari Nelis, Andrew R. Ness, Kate Northstone, Ben A. Oostra, Munro Peacock, Lyle J. Palmer, Aarno Palotie, Guillaume Paré, Alex N. Parker, Nancy L. Pedersen, Leena Peltonen, Craig E. Pennell, Paul Pharoah, Ozren Polasek, Andrew S. Plump, Anneli Pouta, Eleonora Porcu, Thorunn Rafnar, John P. Rice, Susan M. Ring, Fernando Rivadeneira, Igor Rudan, Cinzia Sala, Veikko Salomaa, Serena Sanna, David Schlessinger, Nicholas J. Schork, Angelo Scuteri, Ayellet V. Segrè, Alan R. Shuldiner, Nicole Soranzo, Ulla Sovio, Sathanur R. Srinivasan, David P. Strachan, Mar-Liis Tammesoo, Emmi Tikkanen, Daniela Toniolo, Kim Tsui, Laufey Tryggvadottir, Jonathon Tyrer, Manuela Uda, Rob M. van Dam, Joyve B.J. van Meurs, Peter Vollenweider, Gerard Waeber, Nicholas J. Wareham, Dawn M. Waterworth, Michael N. Weedon, H. Erich Wichmann, Gonneke Willemsen, James F. Wilson, Alan F. Wright, Lauren Young, Guangju Zhai, Wei Vivian Zhuang, Laura J. Bierut, Dorret I. Boomsma, Heather A. Boyd, Laura Crisponi, Ellen W. Demerath, Cornelia M. van Duijn, Michael J. Econs, Tamara B. Harris, David J. Hunter, Ruth J.F. Loos, Andres Metspalu, Grant W. Montgomery, Paul M. Ridker, Tim D. Spector, Elizabeth A. Streeten, Kari Stefansson, Unnur Thorsteinsdottir, André G. Uitterlinden, Elisabeth Widen, Joanne M. Murabito, Ken K. Ong, Anna Murray
Nat Genet.
Published in final edited form as: Nat Genet. 2010 Dec; 42(12): 1077–1085. doi: 10.1038/ng.714
PMCID:
PMC3140055
17.
Wei Huang, Jingyao Zhang, Miaomiao Huo, Jie Gao, Tianshu Yang, Xin Yin, Pei Wang, Shuai Leng, Dandan Feng, Yang Chen, Yang Yang, Yan Wang
Adv Sci (Weinh) 2021 May; 8(10): 2001515. Published online 2021 Mar 16. doi: 10.1002/advs.202001515
PMCID:
PMC8132058
18.
Ching-Yu Cheng, Maria Schache, M. Kamran Ikram, Terri L. Young, Jeremy A. Guggenheim, Veronique Vitart, Stuart MacGregor, Virginie J.M. Verhoeven, Veluchamy A. Barathi, Jiemin Liao, Pirro G. Hysi, Joan E. Bailey-Wilson, Beate St. Pourcain, John P. Kemp, George McMahon, Nicholas J. Timpson, David M. Evans, Grant W. Montgomery, Aniket Mishra, Ya Xing Wang, Jie Jin Wang, Elena Rochtchina, Ozren Polasek, Alan F. Wright, Najaf Amin, Elisabeth M. van Leeuwen, James F. Wilson, Craig E. Pennell, Cornelia M. van Duijn, Paulus T.V.M. de Jong, Johannes R. Vingerling, Xin Zhou, Peng Chen, Ruoying Li, Wan-Ting Tay, Yingfeng Zheng, Merwyn Chew, Consortium for Refractive Error and Myopia, Kathryn P. Burdon, Jamie E. Craig, Sudha K. Iyengar, Robert P. Igo, Jr., Jonathan H. Lass, Jr., The Fuchs’ Genetics Multi-Center Study Group, Emily Y. Chew, Toomas Haller, Evelin Mihailov, Andres Metspalu, Juho Wedenoja, Claire L. Simpson, Robert Wojciechowski, René Höhn, Alireza Mirshahi, Tanja Zeller, Norbert Pfeiffer, Karl J. Lackner, Wellcome Trust Case Control Consortium 2, Thomas Bettecken, Thomas Meitinger, Konrad Oexle, Mario Pirastu, Laura Portas, Abhishek Nag, Katie M. Williams, Ekaterina Yonova-Doing, Ronald Klein, Barbara E. Klein, S. Mohsen Hosseini, Andrew D. Paterson, The Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions, and Complications Research Group, Kari-Matti Makela, Terho Lehtimaki, Mika Kahonen, Olli Raitakari, Nagahisa Yoshimura, Fumihiko Matsuda, Li Jia Chen, Chi Pui Pang, Shea Ping Yip, Maurice K.H. Yap, Akira Meguro, Nobuhisa Mizuki, Hidetoshi Inoko, Paul J. Foster, Jing Hua Zhao, Eranga Vithana, E-Shyong Tai, Qiao Fan, Liang Xu, Harry Campbell, Brian Fleck, Igor Rudan, Tin Aung, Albert Hofman, André G. Uitterlinden, Goran Bencic, Chiea-Chuen Khor, Hannah Forward, Olavi Pärssinen, Paul Mitchell, Fernando Rivadeneira, Alex W. Hewitt, Cathy Williams, Ben A. Oostra, Yik-Ying Teo, Christopher J. Hammond, Dwight Stambolian, David A. Mackey, Caroline C.W. Klaver, Tien-Yin Wong, Seang-Mei Saw, Paul N. Baird
Am J Hum Genet. 2013 Aug 8; 93(2): 264–277. doi: 10.1016/j.ajhg.2013.06.016
PMCID:
PMC3772747
19.
Dae In Kim, Samuel C. Jensen, Kyle A. Noble, Birendra KC, Kenneth H. Roux, Khatereh Motamedchaboki, Kyle J. Roux
Mol Biol Cell. 2016 Apr 15; 27(8): 1188–1196. doi: 10.1091/mbc.E15-12-0844
PMCID:
PMC4831873
20.
Dervla M. Connaughton, Rufeng Dai, Danielle J. Owen, Jonathan Marquez, Nina Mann, Adda L. Graham-Paquin, Makiko Nakayama, Etienne Coyaud, Estelle M.N. Laurent, Jonathan R. St-Germain, Lot Snijders Blok, Arianna Vino, Verena Klämbt, Konstantin Deutsch, Chen-Han Wilfred Wu, Caroline M. Kolvenbach, Franziska Kause, Isabel Ottlewski, Ronen Schneider, Thomas M. Kitzler, Amar J. Majmundar, Florian Buerger, Ana C. Onuchic-Whitford, Mao Youying, Amy Kolb, Daanya Salmanullah, Evan Chen, Amelie T. van der Ven, Jia Rao, Hadas Ityel, Steve Seltzsam, Johanna M. Rieke, Jing Chen, Asaf Vivante, Daw-Yang Hwang, Stefan Kohl, Gabriel C. Dworschak, Tobias Hermle, Mariëlle Alders, Tobias Bartolomaeus, Stuart B. Bauer, Michelle A. Baum, Eva H. Brilstra, Thomas D. Challman, Jacob Zyskind, Carrie E. Costin, Katrina M. Dipple, Floor A. Duijkers, Marcia Ferguson, David R. Fitzpatrick, Roger Fick, Ian A. Glass, Peter J. Hulick, Antonie D. Kline, Ilona Krey, Selvin Kumar, Weining Lu, Elysa J. Marco, Ingrid M. Wentzensen, Heather C. Mefford, Konrad Platzer, Inna S. Povolotskaya, Juliann M. Savatt, Natalia V. Shcherbakova, Prabha Senguttuvan, Audrey E. Squire, Deborah R. Stein, Isabelle Thiffault, Victoria Y. Voinova, Michael J.G. Somers, Michael A. Ferguson, Avram Z. Traum, Ghaleb H. Daouk, Ankana Daga, Nancy M. Rodig, Paulien A. Terhal, Ellen van Binsbergen, Loai A. Eid, Velibor Tasic, Hila Milo Rasouly, Tze Y. Lim, Dina F. Ahram, Ali G. Gharavi, Heiko M. Reutter, Heidi L. Rehm, Daniel G. MacArthur, Monkol Lek, Kristen M. Laricchia, Richard P. Lifton, Hong Xu, Shrikant M. Mane, Simone Sanna-Cherchi, Andrew D. Sharrocks, Brian Raught, Simon E. Fisher, Maxime Bouchard, Mustafa K. Khokha, Shirlee Shril, Friedhelm Hildebrandt
Am J Hum Genet. 2020 Oct 1; 107(4): 727–742. Published online 2020 Sep 4. doi: 10.1016/j.ajhg.2020.08.013
PMCID:
PMC7536580

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