日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Autism-associated CHD8 controls reactive gliosis and neuroinflammation via remodeling chromatin in astrocytes.

与自闭症相关的 CHD8 通过重塑星形胶质细胞中的染色质来控制反应性胶质增生和神经炎症

Megagiannis Platon, Mei Yuan, Yan Rachel E, Yuan Lin, Wilde Jonathan J, Eckersberg Hailey, Suresh Rahul, Tan Xinzhu, Chen Hong, Farmer W Todd, Cha Kuwook, Le Phuong Uyen, Catoire Helene, Rochefort Daniel, Kwan Tony, Yee Brian A, Dion Patrick, Krishnaswamy Arjun, Cloutier Jean-Francois, Stifani Stefano, Petrecca Kevin, Yeo Gene W, Murai Keith K, Feng Guoping, Rouleau Guy A, Ideker Trey, Sanjana Neville E, Zhou Yang

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms

科内莉亚·德·兰格综合征及相关诊断的基因组分析:新的候选基因、基因型-表型相关性和共同机制

Kaur, Maninder; Blair, Justin; Devkota, Batsal; Fortunato, Sierra; Clark, Dinah; Lawrence, Audrey; Kim, Jiwoo; Do, Wonwook; Semeo, Benjamin; Katz, Olivia; Mehta, Devanshi; Yamamoto, Nobuko; Schindler, Emma; Al Rawi, Zayd; Wallace, Nina; Wilde, Jonathan J; McCallum, Jennifer; Liu, Jinglan; Xu, Dongbin; Jackson, Marie; Rentas, Stefan; Tayoun, Ahmad Abou; Zhe, Zhang; Abdul-Rahman, Omar; Allen, Bill; Angula, Moris A; Anyane-Yeboa, Kwame; Argente, Jesús; Arn, Pamela H; Armstrong, Linlea; Basel-Salmon, Lina; Baynam, Gareth; Bird, Lynne M; Bruegger, Daniel; Ch'ng, Gaik-Siew; Chitayat, David; Clark, Robin; Cox, Gerald F; Dave, Usha; DeBaere, Elfrede; Field, Michael; Graham, John M Jr; Gripp, Karen W; Greenstein, Robert; Gupta, Neerja; Heidenreich, Randy; Hoffman, Jodi; Hopkin, Robert J; Jones, Kenneth L; Jones, Marilyn C; Kariminejad, Ariana; Kogan, Jillene; Lace, Baiba; Leroy, Julian; Lynch, Sally Ann; McDonald, Marie; Meagher, Kirsten; Mendelsohn, Nancy; Micule, Ieva; Moeschler, John; Nampoothiri, Sheela; Ohashi, Kaoru; Powell, Cynthia M; Ramanathan, Subhadra; Raskin, Salmo; Roeder, Elizabeth; Rio, Marlene; Rope, Alan F; Sangha, Karan; Scheuerle, Angela E; Schneider, Adele; Shalev, Stavit; Siu, Victoria; Smith, Rosemarie; Stevens, Cathy; Tkemaladze, Tinatin; Toimie, John; Toriello, Helga; Turner, Anne; Wheeler, Patricia G; White, Susan M; Young, Terri; Loomes, Kathleen M; Pipan, Mary; Harrington, Ann Tokay; Zackai, Elaine; Rajagopalan, Ramakrishnan; Conlin, Laura; Deardorff, Matthew A; McEldrew, Deborah; Pie, Juan; Ramos, Feliciano; Musio, Antonio; Kline, Antonie D; Izumi, Kosuke; Raible, Sarah E; Krantz, Ian D

Potassium dependent rescue of a myopathy with core-like structures in mouse

钾依赖性疗法可挽救小鼠具有核心样结构的肌病

Hanson, M Gartz; Wilde, Jonathan J; Moreno, Rosa L; Minic, Angela D; Niswander, Lee

Genetic, epigenetic, and environmental contributions to neural tube closure

遗传、表观遗传和环境因素对神经管闭合的影响

Wilde, Jonathan J; Petersen, Juliette R; Niswander, Lee

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

HDAC8功能缺失突变会导致一系列表型,包括类似科内莉亚·德·兰格综合征的特征、眼距过宽、囟门增大以及X连锁遗传。

Kaiser, Frank J; Ansari, Morad; Braunholz, Diana; Concepción Gil-Rodríguez, María; Decroos, Christophe; Wilde, Jonathan J; Fincher, Christopher T; Kaur, Maninder; Bando, Masashige; Amor, David J; Atwal, Paldeep S; Bahlo, Melanie; Bowman, Christine M; Bradley, Jacquelyn J; Brunner, Han G; Clark, Dinah; Del Campo, Miguel; Di Donato, Nataliya; Diakumis, Peter; Dubbs, Holly; Dyment, David A; Eckhold, Juliane; Ernst, Sarah; Ferreira, Jose C; Francey, Lauren J; Gehlken, Ulrike; Guillén-Navarro, Encarna; Gyftodimou, Yolanda; Hall, Bryan D; Hennekam, Raoul; Hudgins, Louanne; Hullings, Melanie; Hunter, Jennifer M; Yntema, Helger; Innes, A Micheil; Kline, Antonie D; Krumina, Zita; Lee, Hane; Leppig, Kathleen; Lynch, Sally Ann; Mallozzi, Mark B; Mannini, Linda; McKee, Shane; Mehta, Sarju G; Micule, Ieva; Mohammed, Shehla; Moran, Ellen; Mortier, Geert R; Moser, Joe-Ann S; Noon, Sarah E; Nozaki, Naohito; Nunes, Luis; Pappas, John G; Penney, Lynette S; Pérez-Aytés, Antonio; Petersen, Michael B; Puisac, Beatriz; Revencu, Nicole; Roeder, Elizabeth; Saitta, Sulagna; Scheuerle, Angela E; Schindeler, Karen L; Siu, Victoria M; Stark, Zornitza; Strom, Samuel P; Thiese, Heidi; Vater, Inga; Willems, Patrick; Williamson, Kathleen; Wilson, Louise C; Hakonarson, Hakon; Quintero-Rivera, Fabiola; Wierzba, Jolanta; Musio, Antonio; Gillessen-Kaesbach, Gabriele; Ramos, Feliciano J; Jackson, Laird G; Shirahige, Katsuhiko; Pié, Juan; Christianson, David W; Krantz, Ian D; Fitzpatrick, David R; Deardorff, Matthew A