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

Cystic fibrosis risk variants confer protection against inflammatory bowel disease

囊性纤维化风险变异可预防炎症性肠病

Yu, Mingrui; Zhang, Qian; Yuan, Kai; Sazonovs, Aleksejs; Stevens, Christine R; Fachal, Laura; Lamb, Christopher A; Anderson, Carl A; Daly, Mark J; Huang, Hailiang

Integrating 730,947 exome sequences with clinical literature improves gene discovery

将730,947个外显子组序列与临床文献整合,可提高基因发现率。

Guez, Jeremy; Goodrich, Julia K; Moldovan, Mikhail A; Chao, Katherine R; Kar, Prathitha; Panchal, Ruchit; Wilson, Michael W; Laricchia, Kristen M; Rohlicek, Greg; Biba, Dmitry; Marten, Daniel; He, Qin; Darnowsky, Philip W; Grant, Riley; Weisburd, Ben; Baxter, Samantha M; Nadeau, Joshua; Lu, Wenhan; Jahl, Steve; Parsa, Sophie; Lamane, Abdallah; DiTroia, Stephanie; Fu, Jack; Zhao, Xuefang; Alarmani, Elissa; Tolonen, Charlotte; Novod, Sam; Bryant, Sam; Stevens, Christine; Chapman, Sinéad B; Cusick, Caroline; Vittal, Christopher; Gauthier, Laura D; Goldstein, Jacqueline I; Goldstein, Daniel; King, Daniel; Poterba, Timothy; Tiao, Grace; Tranchero, Matteo; Lotter, William; MacArthur, Daniel G; Brand, Harrison; Seplyarskiy, Vladimir; Koch, Evan; Talkowski, Michael E; Solomonson, Matthew; Neale, Benjamin M; O'Donnell-Luria, Anne; Finucane, Hilary K; Sunyaev, Shamil R; Daly, Mark J; Rehm, Heidi L; Samocha, Kaitlin E; Karczewski, Konrad J

CR1 variants contribute to FSGS susceptibility across multiple populations

CR1变异体在多个人群中均与FSGS易感性相关。

Skitchenko, Rostislav; Modrusan, Zora; Loboda, Alexander; Kopp, Jeffrey B; Winkler, Cheryl A; Sergushichev, Alexey; Gupta, Namrata; Stevens, Christine; Daly, Mark J; Shaw, Andrey; Artomov, Mykyta

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

Industrialization drives convergent microbial and physiological shifts in the human metaorganism

工业化驱动人类超有机体中微生物和生理的趋同变化

Poyet, Mathilde; Rühlemann, Malte; Schaan, Ana P; Ma, Yue; Moitinho-Silva, Lucas; Wacker, Eike M; Jebens, Hannah; Patel, Lucas; Nguyen, Le Thanh Tu; Zimmer, Alexis; Plichta, Damian; McDonald, Daniel; Stevens, Christine; Agyei, Adwoa; Afihene, Mary Y; Asibey, Shadrack O; Awuku, Yaw A; Badiane, Aida S; Ching, Lee S; Corzett, Chris; Deme, Awa; Dominguez-Rodrigo, Manuel; Duah, Amoako; Fezeu, Alain; Froment, Alain; Gibbons, Sean; Girard, Catherine; Hooker, Jeff; Ibrahim, Fatimah; Iqaluk, Deborah; Juimo, Vanessa; Kettunen, Pinja; Lafosse, Sophie; Lango-Yaya, Ernest; Lehtimäki, Jenni; Lim, Yvonne A L; Mabulla, Audax; Mahachai, Varocha; Mohamed, Rihlat S; Moniz, Katya; Mwikarago, Ivan E; Nartey, Yvonne A; Ndiaye, Daouda; Noel, Mary; Onyekwere, Charles; Pin, Tan M; Plymoth, Amelie; Roberts, Lewis; Ruokolainen, Lasse; Rusine, John; Segurel, Laure; Shapiro, B Jesse; Sigwazi, Shani; Sistiaga, Ainara; Valles, Kenneth; Vatanen, Tommi; Vilaichone, Ratha-Korn; Rosenstiel, Philip; Baines, John; Franke, Andre; Ellinghaus, David; Knight, Rob; Daly, Mark; Xavier, Ramnik J; Alm, Eric J; Groussin, Mathieu

Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases

法裔加拿大创始人群体中编码变异的频率富集及其与炎症性肠病的关系

Bhérer, Claude; Grenier, Jean-Christophe; Pelletier, Justin; Boucher, Gabrielle; Gagnon, Genevieve; Goyette, Philippe; Ashton-Beaucage, Dariel; Stevens, Christine; Battat, Robert; Bitton, Alain; Campeau, Philippe M; Laprise, Catherine; Huang, Hailiang; Daly, Mark; Taliun, Daniel; Hussin, Julie G; Mooser, Vincent; Rioux, John D

Blended Genome Exome (BGE) as a Cost Efficient Alternative to Deep Whole Genomes or Arrays

混合基因组外显子组测序(BGE)作为一种经济高效的替代方案,可替代深度全基因组测序或芯片测序。

DeFelice, Matthew; Grimsby, Jonna L; Howrigan, Daniel; Yuan, Kai; Chapman, Sinéad B; Stevens, Christine; DeLuca, Samuel; Townsend, Megan; Buxbaum, Joseph; Pericak-Vance, Margaret; Qin, Shengying; Stein, Dan J; Teferra, Solomon; Xavier, Ramnik J; Huang, Hailiang; Martin, Alicia R; Neale, Benjamin M

Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies

系统评价基因组测序在自闭症谱系障碍和胎儿结构异常诊断中的应用

Lowther, Chelsea; Valkanas, Elise; Giordano, Jessica L; Wang, Harold Z; Currall, Benjamin B; O'Keefe, Kathryn; Pierce-Hoffman, Emma; Kurtas, Nehir E; Whelan, Christopher W; Hao, Stephanie P; Weisburd, Ben; Jalili, Vahid; Fu, Jack; Wong, Isaac; Collins, Ryan L; Zhao, Xuefang; Austin-Tse, Christina A; Evangelista, Emily; Lemire, Gabrielle; Aggarwal, Vimla S; Lucente, Diane; Gauthier, Laura D; Tolonen, Charlotte; Sahakian, Nareh; Stevens, Christine; An, Joon-Yong; Dong, Shan; Norton, Mary E; MacKenzie, Tippi C; Devlin, Bernie; Gilmore, Kelly; Powell, Bradford C; Brandt, Alicia; Vetrini, Francesco; DiVito, Michelle; Sanders, Stephan J; MacArthur, Daniel G; Hodge, Jennelle C; O'Donnell-Luria, Anne; Rehm, Heidi L; Vora, Neeta L; Levy, Brynn; Brand, Harrison; Wapner, Ronald J; Talkowski, Michael E

Rare coding variants in ten genes confer substantial risk for schizophrenia

十个基因中的罕见编码变异会显著增加患精神分裂症的风险。

Singh, Tarjinder; Poterba, Timothy; Curtis, David; Akil, Huda; Al Eissa, Mariam; Barchas, Jack D; Bass, Nicholas; Bigdeli, Tim B; Breen, Gerome; Bromet, Evelyn J; Buckley, Peter F; Bunney, William E; Bybjerg-Grauholm, Jonas; Byerley, William F; Chapman, Sinéad B; Chen, Wei J; Churchhouse, Claire; Craddock, Nicholas; Cusick, Caroline M; DeLisi, Lynn; Dodge, Sheila; Escamilla, Michael A; Eskelinen, Saana; Fanous, Ayman H; Faraone, Stephen V; Fiorentino, Alessia; Francioli, Laurent; Gabriel, Stacey B; Gage, Diane; Gagliano Taliun, Sarah A; Ganna, Andrea; Genovese, Giulio; Glahn, David C; Grove, Jakob; Hall, Mei-Hua; Hämäläinen, Eija; Heyne, Henrike O; Holi, Matti; Hougaard, David M; Howrigan, Daniel P; Huang, Hailiang; Hwu, Hai-Gwo; Kahn, René S; Kang, Hyun Min; Karczewski, Konrad J; Kirov, George; Knowles, James A; Lee, Francis S; Lehrer, Douglas S; Lescai, Francesco; Malaspina, Dolores; Marder, Stephen R; McCarroll, Steven A; McIntosh, Andrew M; Medeiros, Helena; Milani, Lili; Morley, Christopher P; Morris, Derek W; Mortensen, Preben Bo; Myers, Richard M; Nordentoft, Merete; O'Brien, Niamh L; Olivares, Ana Maria; Ongur, Dost; Ouwehand, Willem H; Palmer, Duncan S; Paunio, Tiina; Quested, Digby; Rapaport, Mark H; Rees, Elliott; Rollins, Brandi; Satterstrom, F Kyle; Schatzberg, Alan; Scolnick, Edward; Scott, Laura J; Sharp, Sally I; Sklar, Pamela; Smoller, Jordan W; Sobell, Janet L; Solomonson, Matthew; Stahl, Eli A; Stevens, Christine R; Suvisaari, Jaana; Tiao, Grace; Watson, Stanley J; Watts, Nicholas A; Blackwood, Douglas H; Børglum, Anders D; Cohen, Bruce M; Corvin, Aiden P; Esko, Tõnu; Freimer, Nelson B; Glatt, Stephen J; Hultman, Christina M; McQuillin, Andrew; Palotie, Aarno; Pato, Carlos N; Pato, Michele T; Pulver, Ann E; St Clair, David; Tsuang, Ming T; Vawter, Marquis P; Walters, James T; Werge, Thomas M; Ophoff, Roel A; Sullivan, Patrick F; Owen, Michael J; Boehnke, Michael; O'Donovan, Michael C; Neale, Benjamin M; Daly, Mark J