Human Genome Epidemiology Literature Finder
Records 1 - 10 (of 10 Records) |
Query Trace: ADNP[original query] |
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Genome-wide characteristics of de novo mutations in autism. NPJ genomic medicine 2016 Aug 1 160271-1602710. Yuen Ryan K C, Merico Daniele, Cao Hongzhi, Pellecchia Giovanna, Alipanahi Babak, Thiruvahindrapuram Bhooma, Tong Xin, Sun Yuhui, Cao Dandan, Zhang Tao, Wu Xueli, Jin Xin, Zhou Ze, Liu Xiaomin, Nalpathamkalam Thomas, Walker Susan, Howe Jennifer L, Wang Zhuozhi, MacDonald Jeffrey R, Chan Ada, D'Abate Lia, Deneault Eric, Siu Michelle T, Tammimies Kristiina, Uddin Mohammed, Zarrei Mehdi, Wang Mingbang, Li Yingrui, Wang Jun, Wang Jian, Yang Huanming, Bookman Matt, Bingham Jonathan, Gross Samuel S, Loy Dion, Pletcher Mathew, Marshall Christian R, Anagnostou Evdokia, Zwaigenbaum Lonnie, Weksberg Rosanna, Fernandez Bridget A, Roberts Wendy, Szatmari Peter, Glazer David, Frey Brendan J, Ring Robert H, Xu Xun, Scherer Stephen |
ADNP encoding a transcription factor interacting with BAF complexes exhibits frameshift mutations in gastric and colorectal cancers. Scandinavian journal of gastroenterology 2016 Jun 1-6. Jo Yun Sol, Kim Min Sung, Yoo Nam Jin, Lee Sug Hyung, Song Sang Yo |
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 |
Both rare and common genetic variants contribute to autism in the Faroe Islands.
NPJ genomic medicine 2019 4 1. Leblond Claire S, Cliquet Freddy, Carton Coralie, Huguet Guillaume, Mathieu Alexandre, Kergrohen Thomas, Buratti Julien, Lemière Nathalie, Cuisset Laurence, Bienvenu Thierry, Boland Anne, Deleuze Jean-François, Stora Tormodur, Biskupstoe Rannva, Halling Jónrit, Andorsdóttir Guðrið, Billstedt Eva, Gillberg Christopher, Bourgeron Thom |
De novo damaging variants associated with congenital heart diseases contribute to the connectome. Scientific reports 2020 Apr 10 (1): 7046. Ji Weizhen, Ferdman Dina, Copel Joshua, Scheinost Dustin, Shabanova Veronika, Brueckner Martina, Khokha Mustafa K, Ment Laura |
Whole genome sequencing of 45 Japanese patients with intellectual disability. American journal of medical genetics. Part A 2021 2 185 (5): 1468-1480. Abe-Hatano Chihiro, Iida Aritoshi, Kosugi Shunichi, Momozawa Yukihide, Terao Chikashi, Ishikawa Keiko, Okubo Mariko, Hachiya Yasuo, Nishida Hiroya, Nakamura Kazuyuki, Miyata Rie, Murakami Chie, Takahashi Kan, Hoshino Kyoko, Sakamoto Haruko, Ohta Sayaka, Kubota Masaya, Takeshita Eri, Ishiyama Akihiko, Nakagawa Eiji, Sasaki Masayuki, Kato Mitsuhiro, Matsumoto Naomichi, Kamatani Yoichiro, Kubo Michiaki, Takahashi Yoshiyuki, Natsume Jun, Inoue Ken, Goto Yu-Ic |
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes. Nature genetics 2022 Sep 54 (9): 1305-1319. Zhou Xueya, Feliciano Pamela, Shu Chang, Wang Tianyun, Astrovskaya Irina, Hall Jacob B, Obiajulu Joseph U, Wright Jessica R, Murali Shwetha C, Xu Simon Xuming, Brueggeman Leo, Thomas Taylor R, Marchenko Olena, Fleisch Christopher, Barns Sarah D, Snyder LeeAnne Green, Han Bing, Chang Timothy S, Turner Tychele N, Harvey William T, Nishida Andrew, O'Roak Brian J, Geschwind Daniel H, , Michaelson Jacob J, Volfovsky Natalia, Eichler Evan E, Shen Yufeng, Chung Wendy |
Screening for modulators of autism spectrum disorder using induced human neurons. SLAS discovery : advancing life sciences R & D 2022 2 27 (2): 128-139. Rao Sumitha Rajendra, Kostic Ana, Baillargeon Pierre, Fernandez-Vega Virneliz, de Anda Mitzy Rios, Fletcher Kelty, Shumate Justin, Scampavia Louis, Buxbaum Joseph D, Spicer Timothy |
High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations. European journal of human genetics : EJHG 2022 12 . Belanger Deloge Raymond, Zhao Xiaonan, Luna Pamela N, Shaw Chad A, Rosenfeld Jill A, Scott Daryl |
The genetic landscape of autism spectrum disorder in the Middle Eastern population. Frontiers in genetics 2024 4 15 1363849. Yasser Al-Sarraj, Rowaida Z Taha, Eman Al-Dous, Dina Ahram, Somayyeh Abbasi, Eman Abuazab, Hibah Shaath, Wesal Habbab, Khaoula Errafii, Yosra Bejaoui, Maryam AlMotawa, Namat Khattab, Yasmin Abu Aqel, Karim E Shalaby, Amina Al-Ansari, Marios Kambouris, Adel Abouzohri, Iman Ghazal, Mohammed Tolfat, Fouad Alshaban, Hatem El-Shanti, Omar M E Albag |
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- Page last updated:Apr 22, 2024
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