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

Rare genetic variants confer a high risk of ADHD and implicate neuronal biology

罕见基因变异会增加患注意力缺陷多动障碍(ADHD)的风险,并与神经元生物学有关。

Demontis, Ditte; Duan, Jinjie; Hsu, Yu-Han H; Pintacuda, Greta; Grove, Jakob; Nielsen, Trine Tollerup; Thirstrup, Janne; Martorana, Makayla; Botts, Travis; Satterstrom, F Kyle; Bybjerg-Grauholm, Jonas; Tsai, Jason H Y; Glerup, Simon; Hoogman, Martine; Buitelaar, Jan; Klein, Marieke; Ziegler, Georg C; Jacob, Christian; Grimm, Oliver; Bayas, Maximilian; Kobayashi, Nene F; Kittel-Schneider, Sarah; Lesch, Klaus-Peter; Franke, Barbara; Reif, Andreas; Agerbo, Esben; Werge, Thomas; Nordentoft, Merete; Mors, Ole; Mortensen, Preben Bo; Lage, Kasper; Daly, Mark J; Neale, Benjamin M; Børglum, Anders D

MIRAGE: A Bayesian statistical method for gene-level rare-variant analysis incorporating functional annotations

MIRAGE:一种结合功能注释的基因水平罕见变异分析的贝叶斯统计方法

Han, Shengtong; Sun, Xiaotong; Sloofman, Laura; Satterstrom, F Kyle; Xu, Xizhi; Liang, Lifan; Knoblauch, Nicholas; Sheng, Wenhui; Zhao, Siming; Nguyen, Tan-Hoang; Wang, Gao; Buxbaum, Joseph; He, Xin

Contribution of autosomal rare and de novo variants to sex differences in autism

常染色体罕见变异和新发变异对自闭症性别差异的贡献

Koko, Mahmoud; Satterstrom, F Kyle; Warrier, Varun; Martin, Hilary

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

KDM6B相关神经发育障碍的临床和分子谱

Rots, Dmitrijs; Jakub, Taryn E; Keung, Crystal; Jackson, Adam; Banka, Siddharth; Pfundt, Rolph; de Vries, Bert B A; van Jaarsveld, Richard H; Hopman, Saskia M J; van Binsbergen, Ellen; Valenzuela, Irene; Hempel, Maja; Bierhals, Tatjana; Kortüm, Fanny; Lecoquierre, Francois; Goldenberg, Alice; Hertz, Jens Michael; Andersen, Charlotte Brasch; Kibæk, Maria; Prijoles, Eloise J; Stevenson, Roger E; Everman, David B; Patterson, Wesley G; Meng, Linyan; Gijavanekar, Charul; De Dios, Karl; Lakhani, Shenela; Levy, Tess; Wagner, Matias; Wieczorek, Dagmar; Benke, Paul J; Lopez Garcia, María Soledad; Perrier, Renee; Sousa, Sergio B; Almeida, Pedro M; Simões, Maria José; Isidor, Bertrand; Deb, Wallid; Schmanski, Andrew A; Abdul-Rahman, Omar; Philippe, Christophe; Bruel, Ange-Line; Faivre, Laurence; Vitobello, Antonio; Thauvin, Christel; Smits, Jeroen J; Garavelli, Livia; Caraffi, Stefano G; Peluso, Francesca; Davis-Keppen, Laura; Platt, Dylan; Royer, Erin; Leeuwen, Lisette; Sinnema, Margje; Stegmann, Alexander P A; Stumpel, Constance T R M; Tiller, George E; Bosch, Daniëlle G M; Potgieter, Stephanus T; Joss, Shelagh; Splitt, Miranda; Holden, Simon; Prapa, Matina; Foulds, Nicola; Douzgou, Sofia; Puura, Kaija; Waltes, Regina; Chiocchetti, Andreas G; Freitag, Christine M; Satterstrom, F Kyle; De Rubeis, Silvia; Buxbaum, Joseph; Gelb, Bruce D; Branko, Aleksic; Kushima, Itaru; Howe, Jennifer; Scherer, Stephen W; Arado, Alessia; Baldo, Chiara; Patat, Olivier; Bénédicte, Demeer; Lopergolo, Diego; Santorelli, Filippo M; Haack, Tobias B; Dufke, Andreas; Bertrand, Miriam; Falb, Ruth J; Rieß, Angelika; Krieg, Peter; Spranger, Stephanie; Bedeschi, Maria Francesca; Iascone, Maria; Josephi-Taylor, Sarah; Roscioli, Tony; Buckley, Michael F; Liebelt, Jan; Dagli, Aditi I; Aten, Emmelien; Hurst, Anna C E; Hicks, Alesha; Suri, Mohnish; Aliu, Ermal; Naik, Sunil; Sidlow, Richard; Coursimault, Juliette; Nicolas, Gaël; Küpper, Hanna; Petit, Florence; Ibrahim, Veyan; Top, Deniz; Di Cara, Francesca; Louie, Raymond J; Stolerman, Elliot; Brunner, Han G; Vissers, Lisenka E L M; Kramer, Jamie M; Kleefstra, Tjitske

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

The effect of maternal childhood maltreatment on postpartum mother–child bonding and maternal hair glucocorticoids

母亲童年时期遭受虐待对产后母子依恋和母亲头发糖皮质激素的影响

Demontis, Ditte; Walters, G Bragi; Athanasiadis, Georgios; Walters, Raymond; Therrien, Karen; Nielsen, Trine Tollerup; Farajzadeh, Leila; Voloudakis, Georgios; Bendl, Jaroslav; Zeng, Biau; Zhang, Wen; Grove, Jakob; Als, Thomas D; Duan, Jinjie; Satterstrom, F Kyle; Bybjerg-Grauholm, Jonas; Bækved-Hansen, Marie; Gudmundsson, Olafur O; Magnusson, Sigurdur H; Baldursson, Gisli; Davidsdottir, Katrin; Haraldsdottir, Gyda S; Agerbo, Esben; Hoffman, Gabriel E; Dalsgaard, Søren; Martin, Joanna; Ribasés, Marta; Boomsma, Dorret I; Soler Artigas, Maria; Roth Mota, Nina; Howrigan, Daniel; Medland, Sarah E; Zayats, Tetyana; Rajagopal, Veera M; Nordentoft, Merete; Mors, Ole; Hougaard, David M; Mortensen, Preben Bo; Daly, Mark J; Faraone, Stephen V; Stefansson, Hreinn; Roussos, Panos; Franke, Barbara; Werge, Thomas; Neale, Benjamin M; Stefansson, Kari; Børglum, Anders D; Bergunde, Luisa; Karl, Marlene; Borrmeister, Miriam; Jaramillo, Isabel; Weise, Victoria; Mack, Judith T; Weidner, Kerstin; Gao, Wei; Steudte-Schmiedgen, Susann; Garthus-Niegel, Susan

Whole genome sequencing analysis identifies sex differences of familial pattern contributing to phenotypic diversity in autism

全基因组测序分析揭示了导致自闭症表型多样性的家族模式的性别差异

Kim, Soo-Whee; Lee, Hyeji; Song, Da Yea; Lee, Gang-Hee; Ji, Jungeun; Park, Jung Woo; Han, Jae Hyun; Lee, Jee Won; Byun, Hee Jung; Son, Ji Hyun; Kim, Ye Rim; Lee, Yoojeong; Kim, Jaewon; Jung, Ashish; Lee, Junehawk; Kim, Eunha; Kim, So Hyun; Lee, Jeong Ho; Satterstrom, F Kyle; Girirajan, Santhosh; Børglum, Anders D; Grove, Jakob; Kim, Eunjoon; Werling, Donna M; Yoo, Hee Jeong; An, Joon-Yong

Identification of moderate effect size genes in autism spectrum disorder through a novel gene pairing approach

通过一种新的基因配对方法鉴定自闭症谱系障碍中具有中等效应值的基因

Caballero, Madison; Satterstrom, F Kyle; Buxbaum, Joseph D; Mahjani, Behrang

Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders

神经发育障碍中mSWI/SNF染色质重塑复合物扰动的图谱

Valencia, Alfredo M; Sankar, Akshay; van der Sluijs, Pleuntje J; Satterstrom, F Kyle; Fu, Jack; Talkowski, Michael E; Vergano, Samantha A Schrier; Santen, Gijs W E; Kadoch, Cigall