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

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

致病性UNC13A变异体通过损害突触功能导致神经发育综合征。

Asadollahi, Reza; Ahmad, Aisha; Boonsawat, Paranchai; Shahanoor Hinzen, Jasmine; Lohse, Mareike; Bouazza-Arostegui, Boris; Sun, Siqi; Utesch, Tillmann; Sommer, Jonas D; Ilic, Dragana; Padmanarayana, Murugesh; Fischermanns, Kati; Ranjan, Mrinalini; Boll, Moritz; Ka, Chandran; Piton, Amélie; Mattioli, Francesca; Isidor, Bertrand; Õunap, Katrin; Reinson, Karit; Wojcik, Monica H; Marshall, Christian R; Mercimek-Andrews, Saadet; Matsumoto, Naomichi; Miyake, Noriko; Stephan, Bruno de Oliveira; Honjo, Rachel Sayuri; Bertola, Debora R; Kim, Chong Ae; Yusupov, Roman; Mefford, Heather C; Christodoulou, John; Lee, Joy; Heath, Oliver; Brown, Natasha J; Baker, Naomi; Stark, Zornitza; Delatycki, Martin; Lake, Nicole J; Zeidler, Shimriet; Zuurbier, Linda; Maas, Saskia M; de Kruiff, Chris C; Rajabi, Farrah; Rodan, Lance H; Coury, Stephanie A; Platzer, Konrad; Oppermann, Henry; Abou Jamra, Rami; Beblo, Skadi; Maxton, Caroline; Śmigiel, Robert; Underhill, Hunter; Dubbs, Holly; Rosen, Alyssa; Helbig, Katherine L; Helbig, Ingo; Ruggiero, Sarah McKeown; Fitzgerald, Mark P; Kraemer, Dennis; Prada, Carlos E; Tenney, Jeffrey; Jayakar, Parul; Redon, Sylvia; Lefranc, Jérémie; Uguen, Kevin; Race, Simone; Efthymiou, Stephanie; Maroofian, Reza; Houlden, Henry; Coppens, Sandra; Deconinck, Nicolas; Ashokkumar, Balasubramaniem; Varalakshmi, Perumal; Gowda K, Vykunta Raju; Eghbal, Fatemeh; Ghayoor Karimiani, Ehsan; Heidari, Morteza; Neidhardt, John; Owczarek-Lipska, Marta; Korenke, G Christoph; Bamshad, Michael J; Campeau, Philippe M; Lehman, Anna; Hendon, Laura G; Wentzensen, Ingrid M; Monaghan, Kristin G; Chen, Yanmin; Szuto, Anna; Cohn, Ronald D; Au, Ping Yee Billie; Hübner, Christoph; Boschann, Felix; Manickam, Kandamurugu; Koboldt, Daniel C; Rad, Aboulfazl; Oprea, Gabriela; Bachman, Kristine K; Seeley, Andrea H; Agolini, Emanuele; Terracciano, Alessandra; Carmelo, Piscopo; Bupp, Caleb; Grysko, Bethany; Rein-Rothschild, Annick; Ben Zeev, Bruria; Margolin, Amy; Morrison, Jennifer; Dagli, Aditi; Stolerman, Elliot; Louie, Raymond J; Washington, Camerun; Stevens, Servi J C; Heijligers, Malou; Alkuraya, Fowzan S; Lisfeld, Jasmin; Neu, Axel; Paoli Monteiro, Fabíola; Santos Pessoa, André Luiz; Camelo-Filho, Antonio Edvan; Kok, Fernando; Koeberl, Dwight; Riley, Kacie; Burglen, Lydie; Doummar, Diane; Héron, Bénédicte; Mignot, Cyril; Keren, Boris; Charles, Perrine; Nava, Caroline; Bernhard, Felix P; Kühn, Andrea A; Thoms, Sven; Morrie, Ryan D; Mekhoubad, Shila; Green, Eric M; Barmada, Sami J; Gitler, Aaron D; Jahn, Olaf; Rhee, Jeong Seop; Rosenmund, Christian; Mitkovski, Mišo; Sticht, Heinrich; Sun, Han; Le Gac, Gerald; Taschenberger, Holger; Brose, Nils; Dittman, Jeremy S; Rauch, Anita; Lipstein, Noa

Teaching and training of human resources for genetics and genomics in Brazil

巴西遗传学和基因组学人力资源教学与培训

de Lima, Fernanda Teresa; de Lima, Maria Angélica de Faria Domingues; Correia, Patrícia Santana; Honjo, Rachel Sayuri; Maia, Rayana Elias; Kyosen, Sandra Obikawa; Melo, Débora Gusmão

A Novel NOTCH3 Variant Leading to Lateral Meningocele Syndrome: Prenatal Diagnosis and Possible Expansion of the Phenotype

一种导致侧脑膜膨出综合征的新型 NOTCH3 变异:产前诊断及表型可能的扩展

Pasa, Isabela Dorneles; Frey, Alessandra Caren; Ferraciolli, Suelly Fazio; Lucato, Leandro Tavares; Azevedo Carvalho, Mariana; Pagotto, Mario Vitor Caldeira; Burlacchini De Carvalho, Mario Henrique; Pulcineli Vieira Francisco, Rossana; Honjo, Rachel Sayuri; Bertola, Debora Romeo; Kim, Chong Ae

Plastic Bronchitis in Noonan Syndrome: Further Evidence Suggesting a Higher Risk of Lymphatic Abnormalities in Individuals Harboring Variants in PTPN11 Residue p.Phe285

努南综合征中的塑型性支气管炎:进一步证据表明,携带 PTPN11 残基 p.Phe285 变异的个体发生淋巴异常的风险更高

Pires, Lucas Vieira Lacerda; Da Cás, Eduardo; de Melo, Letícia Cole; Nakaie, Cleyde Mirian Aversa; Aiello, Vera Dermachi; Yamamoto, Guilherme Lopes; Honjo, Rachel Sayuri; Kim, Chong Ae; Bertola, Débora Romeo

Advantages of whole-exome sequencing over immunomapping in 67 Brazilian patients with epidermolysis bullosa

全外显子组测序优于免疫定位法在67例巴西大疱性表皮松解症患者中的优势

Kelmann, Samantha Vernaschi; Stephan, Bruno de Oliveira; Barbosa, Silvia Maria de Macedo; Polastrini, Rita Tiziana Verardo; Oliveira, Zilda Najjar Prado de; Rivitti-Machado, Maria Cecília; Spolador, Gustavo Marquezani; Honjo, Rachel Sayuri; Saida, Ken; Matsumoto, Naomichi; Kim, Chong Ae

Biallelic structural variations within FGF12 detected by long-read sequencing in epilepsy

通过长读测序检测癫痫中 FGF12 内的双等位基因结构变异

Sachiko Ohori, Akihiko Miyauchi, Hitoshi Osaka, Charles Marques Lourenco, Naohiro Arakaki, Toru Sengoku, Kazuhiro Ogata, Rachel Sayuri Honjo, Chong Ae Kim, Satomi Mitsuhashi, Martin C Frith, Rie Seyama, Naomi Tsuchida, Yuri Uchiyama, Eriko Koshimizu, Kohei Hamanaka, Kazuharu Misawa, Satoko Miyatake,

Audiological profile and cochlear functionality in Williams syndrome

威廉姆斯综合征患者的听力学特征和耳蜗功能

Silva, Liliane Aparecida Fagundes; Kawahira, Rachel Sayuri Honjo; Kim, Chong Ae; Matas, Carla Gentile

New SHH and Known SIX3 Variants in a Series of Latin American Patients with Holoprosencephaly

在一系列患有全前脑畸形的拉丁美洲患者中发现新的SHH和已知的SIX3变异

de Castro, Viviane Freitas; Mattos, Daniel; de Carvalho, Flavia Martinez; Cavalcanti, Denise Pontes; Duenas-Roque, Milagros M; Llerena, Juan Jr; Cosentino, Viviana Raquel; Honjo, Rachel Sayuri; Leite, Julio Cesar Loguercio; Sanseverino, Maria Teresa; de Souza, Márcia Pereira Alves; Bernardi, Pricila; Bolognese, Ana Maria; Santana da Silva, Luiz Carlos; Barbero, Pablo; Correia, Patricia Santana; Bueno, Larissa Souza Mario; Savastano, Clarice Pagani; Orioli, Iêda Maria

Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation

双等位基因 CSF1R 突变导致骨硬化症-派尔病谱系骨骼发育不良和伴有脑畸形的退行性脑病

Guo, Long; Bertola, Débora Romeo; Takanohashi, Asako; Saito, Asuka; Segawa, Yuko; Yokota, Takanori; Ishibashi, Satoru; Nishida, Yoichiro; Yamamoto, Guilherme Lopes; Franco, José Francisco da Silva; Honjo, Rachel Sayuri; Kim, Chong Ae; Musso, Camila Manso; Timmons, Margaret; Pizzino, Amy; Taft, Ryan J; Lajoie, Bryan; Knight, Melanie A; Fischbeck, Kenneth H; Singleton, Andrew B; Ferreira, Carlos R; Wang, Zheng; Yan, Li; Garbern, James Y; Simsek-Kiper, Pelin O; Ohashi, Hirofumi; Robey, Pamela G; Boyde, Alan; Matsumoto, Naomichi; Miyake, Noriko; Spranger, Jürgen; Schiffmann, Raphael; Vanderver, Adeline; Nishimura, Gen; Passos-Bueno, Maria Rita Dos Santos; Simons, Cas; Ishikawa, Kinya; Ikegawa, Shiro

Associations between fetal testosterone and pro-social tendencies, anxiety and autistic symptoms in Williams syndrome: a preliminary study

胎儿睾酮与威廉姆斯综合征患者的亲社会倾向、焦虑和自闭症症状之间的关联:一项初步研究

Osório, Ana Alexandra Caldas; do Egito, Júlia Horta Tabosa; Martins, Gabriela Carneiro; Kim, Chong Ae; Honjo, Rachel Sayuri; Sampaio, Adriana da Conceição Soares; Mesquita, Ana Raquel Marcelino; Macedo, Elizeu Coutinho; Boggio, Paulo Sérgio; Teixeira, Maria Cristina Triguero Veloz