Human Genome Epidemiology Literature Finder
Records 1 - 10 (of 10 Records) |
Query Trace: POGZ[original query] |
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Whole-exome sequencing and neurite outgrowth analysis in autism spectrum disorder. Journal of human genetics 2015 Nov . Hashimoto Ryota, Nakazawa Takanobu, Tsurusaki Yoshinori, Yasuda Yuka, Nagayasu Kazuki, Matsumura Kensuke, Kawashima Hitoshi, Yamamori Hidenaga, Fujimoto Michiko, Ohi Kazutaka, Umeda-Yano Satomi, Fukunaga Masaki, Fujino Haruo, Kasai Atsushi, Hayata-Takano Atsuko, Shintani Norihito, Takeda Masatoshi, Matsumoto Naomichi, Hashimoto Hitos |
De novo POGZ mutations in sporadic autism disrupt the DNA-binding activity of POGZ. Journal of molecular psychiatry 2016 4 1. Matsumura Kensuke, Nakazawa Takanobu, Nagayasu Kazuki, Gotoda-Nishimura Nanaka, Kasai Atsushi, Hayata-Takano Atsuko, Shintani Norihito, Yamamori Hidenaga, Yasuda Yuka, Hashimoto Ryota, Hashimoto Hitos |
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders. American journal of human genetics 2016 Mar 98 (3): 541-52. Stessman Holly A F, Willemsen Marjolein H, Fenckova Michaela, Penn Osnat, Hoischen Alexander, Xiong Bo, Wang Tianyun, Hoekzema Kendra, Vives Laura, Vogel Ida, Brunner Han G, van der Burgt Ineke, Ockeloen Charlotte W, Schuurs-Hoeijmakers Janneke H, Klein Wassink-Ruiter Jolien S, Stumpel Connie, Stevens Servi J C, Vles Hans S, Marcelis Carlo M, van Bokhoven Hans, Cantagrel Vincent, Colleaux Laurence, Nicouleau Michael, Lyonnet Stanislas, Bernier Raphael A, Gerdts Jennifer, Coe Bradley P, Romano Corrado, Alberti Antonino, Grillo Lucia, Scuderi Carmela, Nordenskjöld Magnus, Kvarnung Malin, Guo Hui, Xia Kun, Piton Amélie, Gerard Bénédicte, Genevieve David, Delobel Bruno, Lehalle Daphne, Perrin Laurence, Prieur Fabienne, Thevenon Julien, Gecz Jozef, Shaw Marie, Pfundt Rolph, Keren Boris, Jacquette Aurelia, Schenck Annette, Eichler Evan E, Kleefstra Tjits |
De novo genic mutations among a Chinese autism spectrum disorder cohort. Nature communications 2016 Nov 7 13316. Wang Tianyun, Guo Hui, Xiong Bo, Stessman Holly A F, Wu Huidan, Coe Bradley P, Turner Tychele N, Liu Yanling, Zhao Wenjing, Hoekzema Kendra, Vives Laura, Xia Lu, Tang Meina, Ou Jianjun, Chen Biyuan, Shen Yidong, Xun Guanglei, Long Min, Lin Janice, Kronenberg Zev N, Peng Yu, Bai Ting, Li Honghui, Ke Xiaoyan, Hu Zhengmao, Zhao Jingping, Zou Xiaobing, Xia Kun, Eichler Evan |
Genetic Diagnostic Evaluation of Trio-Based Whole Exome Sequencing Among Children With Diagnosed or Suspected Autism Spectrum Disorder. Frontiers in genetics 2018 9 594. Du Xiujuan, Gao Xueren, Liu Xin, Shen Lixiao, Wang Kai, Fan Yanjie, Sun Yu, Luo Xiaomei, Liu Huili, Wang Lili, Wang Yu, Gong Zhuwen, Wang Jianguo, Yu Yongguo, Li F |
Assessment of Potential Clinical Role for Exome Sequencing in Schizophrenia. Schizophrenia bulletin 2019 5 46 (2): 328-335. Balakrishna Thivia, Curtis Dav |
Diagnostic yield of clinical exome sequencing in adulthood in medical genetics clinics. American journal of medical genetics. Part A 2022 11 191 (2): 510-517. Mainali Apurba, Athey Taryn, Bahl Shalini, Hung Clara, Caluseriu Oana, Chan Alicia, Eaton Alison, Ghai Shailly Jain, Kannu Peter, MacPherson Melissa, Niederhoffer Karen Y, Siriwardena Komudi, Mercimek-Andrews Saad |
Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring. Genes 2022 1 13 (1): . Nagy Dóra, Verheyen Sarah, Wigby Kristen M, Borovikov Artem, Sharkov Artem, Slegesky Valerie, Larson Austin, Fagerberg Christina, Brasch-Andersen Charlotte, Kibæk Maria, Bader Ingrid, Hernan Rebecca, High Frances A, Chung Wendy K, Schieving Jolanda H, Behunova Jana, Smogavec Mateja, Laccone Franco, Witsch-Baumgartner Martina, Zobel Joachim, Duba Hans-Christoph, Weis Deni |
Detecting Low-Variant Allele Frequency Mosaic Pathogenic Variants of NF1, TSC2, and AKT3 Genes from Blood in Patients with Neurodevelopmental Disorders. The Journal of molecular diagnostics : JMD 2023 4 . Se Hee Kim, Soon Sung Kwon, Mi Ri Park, Hyeon Ah Lee, Ji Hun Kim, JiHoon Cha, Sangwoo Kim, Seung Tae Baek, Se Hoon Kim, Joon Soo Lee, Heung Dong Kim, Jong Rak Choi, Seung-Tae Lee, Hoon-Chul Ka |
Investigation of Pogz Gene Variants in Non-Syndromic Autism Spectrum Disorder. Noro psikiyatri arsivi 2024 9 67 (3): 208-212. Jülide Tozk?r, Gökberk Y?ld?r?m, Selma Demir, Orkide Palab?y?k, I??k Görker, Hakan Gürk |
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