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

Deleterious coding variation associated with autism is shared across ancestries

与自闭症相关的有害编码变异在不同祖先群体中是共通的。

Natividad Avila, Marina; Jung, Seulgi; Satterstrom, F Kyle; Fu, Jack M; Levy, Tess; Sloofman, Laura G; Klei, Lambertus; Pichardo, Thariana; Marquez, Dalia; Stevens, Christine R; Cusick, Caroline M; Ames, Jennifer L; Campos, Gabriele S; Cerros, Hilda; Chaskel, Roberto; Costa, Claudia I S; Cuccaro, Michael L; Lopez, Andrea Del Pilar; Fernandez, Magdalena; Ferro, Eugenio; Galeano, Liliana; Girardi, Ana Cristina D E S; Griswold, Anthony J; Hernandez, Luis C; Lourenço, Naila; Ludena, Yunin; Núñez-Ríos, Diana; Oyama, Rosa; Peña, Katherine P; Pessah, Isaac; Schmidt, Rebecca; Sweeney, Holly M; Tolentino, Lizbeth; Wang, Jaqueline Y T; Albores-Gallo, Lilia; Croen, Lisa A; Cruz-Fuentes, Carlos S; Hertz-Picciotto, Irva; Kolevzon, Alexander; Lattig, Maria Claudia; Mayo, Liliana; Passos-Bueno, Maria Rita; Pericak-Vance, Margaret A; Siper, Paige M; Tassone, Flora; Trelles, M Pilar; Talkowski, Michael E; Daly, Mark J; Mahjani, Behrang; De Rubeis, Silvia; Cook, Edwin H; Roeder, Kathryn; Betancur, Catalina; Devlin, Bernie; Buxbaum, Joseph D

Protein-truncating variants and deletions of SHANK2 are associated with autism spectrum disorder and other neurodevelopmental concerns

SHANK2 蛋白截短变异和缺失与自闭症谱系障碍和其他神经发育问题相关。

Silver, Hailey; Greenberg, Rori; Siper, Paige M; Zweifach, Jessica; Soufer, Renee; Sahin, Mustafa; Berry-Kravis, Elizabeth; Soorya, Latha Valluripalli; Thurm, Audrey; Bernstein, Jonathan A; Kolevzon, Alexander; Grice, Dorothy E; Buxbaum, Joseph D; Levy, Tess

Phenotypic variation in neural sensory processing by deletion size, age, and sex in Phelan-McDermid syndrome

Phelan-McDermid综合征中神经感觉处理的表型变异与缺失大小、年龄和性别有关

Smith, Melody Reese; Berry-Kravis, Elizabeth; Thaliath, Andrew; Isenstein, Emily L; Durkin, Allison R; Foss-Feig, Jennifer; Siper, Paige M; Nelson, Charles A; Baczewski, Lauren; Levin, April R; Powell, Craig M; Pulver, Stormi L; Mosconi, Matthew W; Kolevzon, Alexander; Ethridge, Lauren E

An open-label study evaluating the safety and efficacy of AMO-01 for the treatment of seizures in Phelan-McDermid syndrome

一项开放标签研究,旨在评估 AMO-01 治疗 Phelan-McDermid 综合征癫痫发作的安全性和有效性。

Levy, Tess; Holder, J Lloyd Jr; Horrigan, Joseph P; Snape, Michael F; McMorn, Alison; Layton, Christina; Silver, Hailey; Friedman, Kate; Grosman, Hannah; Underwood, Slayton; Halpern, Danielle; Zweifach, Jessica; Siper, Paige M; Kolevzon, Alexander

Deleterious coding variation associated with autism is consistent across populations, as exemplified by admixed Latin American populations

与自闭症相关的有害编码变异在不同人群中具有一致性,例如拉丁美洲混血人群就体现了这一点。

Avila, Marina Natividad; Jung, Seulgi; Satterstrom, F Kyle; Fu, Jack M; Levy, Tess; Sloofman, Laura G; Klei, Lambertus; Pichardo, Thariana; Stevens, Christine R; Cusick, Caroline M; Ames, Jennifer L; Campos, Gabriele S; Cerros, Hilda; Chaskel, Roberto; Costa, Claudia I S; Cuccaro, Michael L; Del Pilar Lopez, Andrea; Fernandez, Magdalena; Ferro, Eugenio; Galeano, Liliana; Girardi, Ana Cristina D E S; Griswold, Anthony J; Hernandez, Luis C; Lourenço, Naila; Ludena, Yunin; Nuñez, Diana L; Oyama, Rosa; Peña, Katherine P; Pessah, Isaac; Schmidt, Rebecca; Sweeney, Holly M; Tolentino, Lizbeth; Wang, Jaqueline Y T; Albores-Gallo, Lilia; Croen, Lisa A; Cruz-Fuentes, Carlos S; Hertz-Picciotto, Irva; Kolevzon, Alexander; Lattig, Maria C; Mayo, Liliana; Passos-Bueno, Maria Rita; Pericak-Vance, Margaret A; Siper, Paige M; Tassone, Flora; Trelles, M Pilar; Talkowski, Michael E; Daly, Mark J; Mahjani, Behrang; De Rubeis, Silvia; Cook, Edwin H; Roeder, Kathryn; Betancur, Catalina; Devlin, Bernie; Buxbaum, Joseph D

Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions

共识报告指南旨在弥补对超罕见遗传疾病描述方面的不足

AlMail, Ali; Jamjoom, Ahmed; Pan, Amy; Feng, Min Yi; Chau, Vann; D'Gama, Alissa M; Howell, Katherine; Liang, Nicole S Y; McTague, Amy; Poduri, Annapurna; Wiltrout, Kimberly; Bassett, Anne S; Christodoulou, John; Dupuis, Lucie; Gill, Peter; Levy, Tess; Siper, Paige; Stark, Zornitza; Vorstman, Jacob A S; Diskin, Catherine; Jewitt, Natalie; Baribeau, Danielle; Costain, Gregory

Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome

Phelan-McDermid综合征癫痫发作的临床、遗传和认知相关性

Levy, Tess; Gluckman, Jacob; Siper, Paige M; Halpern, Danielle; Zweifach, Jessica; Filip-Dhima, Rajna; Holder, J Lloyd Jr; Trelles, M Pilar; Johnson, Kristina; Bernstein, Jonathan A; Berry-Kravis, Elizabeth; Powell, Craig M; Soorya, Latha Valluripalli; Thurm, Audrey; Buxbaum, Joseph D; Sahin, Mustafa; Kolevzon, Alexander; Srivastava, Siddharth

Investigating social orienting in children with Phelan-McDermid syndrome and 'idiopathic' autism

研究患有费兰-麦克德米德综合征和“特发性”自闭症儿童的社会取向

San José Cáceres, Antonia; Wilkinson, Emma; Cooke, Jennifer; Baskett, Victoria; Blackmore, Charlotte; Crawley, Daisy Victoria; Durkin, Allison; Halpern, Danielle; Núñez, María; Siper, Page; Murphy, Declan G; Foss-Feig, Jennifer; Kolevzon, Alexander; Loth, Eva

Brief Report: Assessment of a Caregiver-Implemented Intervention for Improving Social Communication Skills in Toddlers and Young Children with Autism

简报:评估由照护者实施的、旨在改善自闭症幼儿和儿童社交沟通技能的干预措施

Rouhandeh, Audrey A; Honsberger, Christine; Shanok, Nathaniel A; Lozott, Erin Brooker; Levy, Tess; Kolevzon, Alexander; Buxbaum, Joseph D; Sotelo, Marlene; Foss-Feig, Jennifer; Siper, Paige M

Genetic and epigenetic signatures associated with plasma oxytocin levels in children and adolescents with autism spectrum disorder

与自闭症谱系障碍儿童和青少年血浆催产素水平相关的遗传和表观遗传特征

Siecinski, Stephen K; Giamberardino, Stephanie N; Spanos, Marina; Hauser, Annalise C; Gibson, Jason R; Chandrasekhar, Tara; Trelles, Maria Del Pilar; Rockhill, Carol M; Palumbo, Michelle L; Cundiff, Allyson Witters; Montgomery, Alicia; Siper, Paige; Minjarez, Mendy; Nowinski, Lisa A; Marler, Sarah; Kwee, Lydia C; Shuffrey, Lauren C; Alderman, Cheryl; Weissman, Jordana; Zappone, Brooke; Mullett, Jennifer E; Crosson, Hope; Hong, Natalie; Luo, Sheng; She, Lilin; Bhapkar, Manjushri; Dean, Russell; Scheer, Abby; Johnson, Jacqueline L; King, Bryan H; McDougle, Christopher J; Sanders, Kevin B; Kim, Soo-Jeong; Kolevzon, Alexander; Veenstra-VanderWeele, Jeremy; Hauser, Elizabeth R; Sikich, Linmarie; Gregory, Simon G