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

Translating multi-omics into healthcare: requisites for scalable and equitable implementation

将多组学转化为医疗保健:可扩展和公平实施的必要条件

Tumiene, Birute; Adams, David R; Allaway, Robert; Barrero, Maria J; Chan, Chun-Hung; Faundes, Víctor; Fear, Vanessa S; Glezer, Polina; Fuchs, Claudia; Groza, Tudor; Houwink, Elisa J F; Jamuar, Saumya Shekhar; Letinturier, Mary Catherine V; Lomash, Richa Madan; Puri, Ratna Dua; Reichardt, Juergen K V; Mehrian-Shai, Ruty; van der Westhuizen, Francois H; Varshney, Gaurav K; Yamamoto, Shinya; Baynam, Gareth

WNT4 deficiency impacts heart, diaphragm, and palate development: Insights from human genetics, machine learning, and mouse models

WNT4 缺陷影响心脏、膈肌和腭的发育:来自人类遗传学、机器学习和鼠模型的启示

Hernández-García, Andrés; Kim, Bum Jun; Chitayat, David; Shannon, Patrick; Hedges, Stephanie; Al Bandari, Maria; Guillen Sacoto, Maria J; Bates, Emily Anne; Ozekin, Yunus H; Faundes, Victor; Luna, Pamela N; Shaw, Chad A; Rasmussen, Tara L; Hsu, Chih-Wei; Scott, Daryl A

Impact of brief telehealth interventions on parental stress and challenging behaviors of children with fragile X syndrome

简短远程医疗干预对脆性X综合征患儿父母压力和挑战性行为的影响

Miranda, María Francisca; Faundes, Víctor; Alliende, María Angélica; Santa María, Lorena

Genetic and in silico functional characterization of a novel structural variant in the PAH gene by long-reads sequencing and structural modeling

利用长读长测序和结构建模对PAH基因中一种新的结构变异进行遗传和计算机功能表征

Gallardo, Viviana; Gaete, Alexis; Maldonado, Jonathan; Morales, Paulina; Peña, Angela; Hamilton, Valerie; Faundes, Víctor; Santa María, Lorena

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes

KMT2C基因的致病变异会导致一种不同于克利夫斯特拉综合征和歌舞伎综合征的神经发育障碍。

Rots, Dmitrijs; Choufani, Sanaa; Faundes, Victor; Dingemans, Alexander J M; Joss, Shelagh; Foulds, Nicola; Jones, Elizabeth A; Stewart, Sarah; Vasudevan, Pradeep; Dabir, Tabib; Park, Soo-Mi; Jewell, Rosalyn; Brown, Natasha; Pais, Lynn; Jacquemont, Sébastien; Jizi, Khadijé; Ravenswaaij-Arts, Conny M A van; Kroes, Hester Y; Stumpel, Constance T R M; Ockeloen, Charlotte W; Diets, Illja J; Nizon, Mathilde; Vincent, Marie; Cogné, Benjamin; Besnard, Thomas; Kambouris, Marios; Anderson, Emily; Zackai, Elaine H; McDougall, Carey; Donoghue, Sarah; O'Donnell-Luria, Anne; Valivullah, Zaheer; O'Leary, Melanie; Srivastava, Siddharth; Byers, Heather; Leslie, Nancy; Mazzola, Sarah; Tiller, George E; Vera, Moin; Shen, Joseph J; Boles, Richard; Jain, Vani; Brischoux-Boucher, Elise; Kinning, Esther; Simpson, Brittany N; Giltay, Jacques C; Harris, Jacqueline; Keren, Boris; Guimier, Anne; Marijon, Pierre; Vries, Bert B A de; Motter, Constance S; Mendelsohn, Bryce A; Coffino, Samantha; Gerkes, Erica H; Afenjar, Alexandra; Visconti, Paola; Bacchelli, Elena; Maestrini, Elena; Delahaye-Duriez, Andree; Gooch, Catherine; Hendriks, Yvonne; Adams, Hieab; Thauvin-Robinet, Christel; Josephi-Taylor, Sarah; Bertoli, Marta; Parker, Michael J; Rutten, Julie W; Caluseriu, Oana; Vernon, Hilary J; Kaziyev, Jonah; Zhu, Jia; Kremen, Jessica; Frazier, Zoe; Osika, Hailey; Breault, David; Nair, Sreelata; Lewis, Suzanne M E; Ceroni, Fabiola; Viggiano, Marta; Posar, Annio; Brittain, Helen; Giovanna, Traficante; Giulia, Gori; Quteineh, Lina; Ha-Vinh Leuchter, Russia; Zonneveld-Huijssoon, Evelien; Mellado, Cecilia; Marey, Isabelle; Coudert, Alicia; Aracena Alvarez, Mariana Inés; Kennis, Milou G P; Bouman, Arianne; Roifman, Maian; Amorós Rodríguez, María Inmaculada; Ortigoza-Escobar, Juan Dario; Vernimmen, Vivian; Sinnema, Margje; Pfundt, Rolph; Brunner, Han G; Vissers, Lisenka E L M; Kleefstra, Tjitske; Weksberg, Rosanna; Banka, Siddharth

Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile

解读罕见病中复杂的遗传表型:智利罕见未确诊疾病的DECIPHERD计划

Poli, M Cecilia; Rebolledo-Jaramillo, Boris; Lagos, Catalina; Orellana, Joan; Moreno, Gabriela; Martín, Luz M; Encina, Gonzalo; Böhme, Daniela; Faundes, Víctor; Zavala, M Jesús; Hasbún, Trinidad; Fischer, Sara; Brito, Florencia; Araya, Diego; Lira, Manuel; de la Cruz, Javiera; Astudillo, Camila; Lay-Son, Guillermo; Cares, Carolina; Aracena, Mariana; Martin, Esteban San; Coban-Akdemir, Zeynep; Posey, Jennifer E; Lupski, James R; Repetto, Gabriela M

Discovery of novel genetic syndromes in Latin America: Opportunities and challenges

拉丁美洲新型遗传综合征的发现:机遇与挑战

Faundes, Víctor; Repetto, Gabriela M; Valdivia, Leonardo E

Loss of DOT1L function disrupts neuronal transcription, animal behavior, and leads to a novel neurodevelopmental disorder

DOT1L 功能丧失会破坏神经元转录、动物行为并导致一种新的神经发育障碍

Marissa J Maroni, Melissa Barton, Katherine Lynch, Ashish R Deshwar, Philip Campbell, Josephine Millard, Rachel Lee, Annastelle Cohen, Alekh Paranjapye, Víctor Faundes, Gabriela M Repetto, Caoimhe McKenna, Amelle L Shillington, Chanika Phornphutkul, Grazia Ms Mancini, Rachel Schot, Tahsin Stefan Bar

Kalanchoe pinnata (Lam.) Pers. Leaf ethanolic extract exerts selective anticancer activity through ROS-induced apoptotic cell death in human cancer cell lines

伽蓝菜 (Lam.) Pers. 叶乙醇提取物通过 ROS 诱导的人类癌细胞系凋亡发挥选择性抗癌活性

Nicolas Faundes-Gandolfo #, Carlos Jara-Gutiérrez #, Mario Párraga, Iván Montenegro, Waleska Vera, Marcela Escobar, Alejandro Madrid, Manuel Valenzuela-Valderrama, Joan Villena

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

KMT5B 单倍体不足在人类和小鼠神经发育中的机制

Sarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, Courtney Vaccaro, Brynn Robertson, Jodi Hallgren, Jason Hulen, Cynthia J Watson, Victor Faundes, Yannis Duffourd, Pearl Lee, M Celeste Simon, Xavier de la Cruz, Natália Padilla, Marco Flores-Mendez, Naiara Akizu, Jacqueline Smiler, Renata Pe