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

Functional associations of evolutionarily recent human genes exhibit sensitivity to the 3D genome landscape and disease

进化上较新的人类基因的功能关联对三维基因组结构和疾病表现出敏感性。

Fleck, Katherine; Luria, Victor; Garag, Nitanta; Karger, Amir; Hunter, Trevor; Marten, Daniel; Phu, William; Nam, Kee-Myoung; Sestan, Nenad; O'Donnell-Luria, Anne H; Erceg, Jelena

Genes To Mental Health (G2MH): A Framework to Map the Combined Effects of Rare and Common Variants on Dimensions of Cognition and Psychopathology

基因与心理健康(G2MH):一个用于绘制罕见和常见变异对认知和精神病理学维度综合影响的框架

Jacquemont, Sébastien; Huguet, Guillaume; Klein, Marieke; Chawner, Samuel J R A; Donald, Kirsten A; van den Bree, Marianne B M; Sebat, Jonathan; Ledbetter, David H; Constantino, John N; Earl, Rachel K; McDonald-McGinn, Donna M; van Amelsvoort, Therese; Swillen, Ann; O'Donnell-Luria, Anne H; Glahn, David C; Almasy, Laura; Eichler, Evan E; Scherer, Stephen W; Robinson, Elise; Bassett, Anne S; Martin, Christa Lese; Finucane, Brenda; Vorstman, Jacob A S; Bearden, Carrie E; Gur, Raquel E

Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program

从维多利亚州未确诊疾病计划前150个家庭的多方面诊断方法中汲取的经验教训

Cloney, Thomas; Gallacher, Lyndon; Pais, Lynn S; Tan, Natalie B; Yeung, Alison; Stark, Zornitza; Brown, Natasha J; McGillivray, George; Delatycki, Martin B; de Silva, Michelle G; Downie, Lilian; Stutterd, Chloe A; Elliott, Justine; Compton, Alison G; Lovgren, Alysia; Oertel, Ralph; Francis, David; Bell, Katrina M; Sadedin, Simon; Lim, Sze Chern; Helman, Guy; Simons, Cas; Macarthur, Daniel G; Thorburn, David R; O'Donnell-Luria, Anne H; Christodoulou, John; White, Susan M; Tan, Tiong Yang

O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum

奥唐奈-卢里亚-罗丹综合征:第二个多国队列的描述及表型谱的完善

Velmans, Clara; O'Donnell-Luria, Anne H; Argilli, Emanuela; Tran Mau-Them, Frederic; Vitobello, Antonio; Chan, Marcus Cy; Fung, Jasmine Lee-Fong; Rech, Megan; Abicht, Angela; Aubert Mucca, Marion; Carmichael, Jason; Chassaing, Nicolas; Clark, Robin; Coubes, Christine; Denommé-Pichon, Anne-Sophie; de Dios, John Karl; England, Eleina; Funalot, Benoit; Gerard, Marion; Joseph, Maries; Kennedy, Colleen; Kumps, Camille; Willems, Marjolaine; van de Laar, Ingrid M B H; Aarts-Tesselaar, Coranne; van Slegtenhorst, Marjon; Lehalle, Daphné; Leppig, Kathleen; Lessmeier, Lennart; Pais, Lynn S; Paterson, Heather; Ramanathan, Subhadra; Rodan, Lance H; Superti-Furga, Andrea; Chung, Brian H Y; Sherr, Elliott; Netzer, Christian; Schaaf, Christian P; Erger, Florian

Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans

作者更正:突变约束谱是基于141,456名人类的变异量化的。

Karczewski, Konrad J; Francioli, Laurent C; Tiao, Grace; Cummings, Beryl B; Alföldi, Jessica; Wang, Qingbo; Collins, Ryan L; Laricchia, Kristen M; Ganna, Andrea; Birnbaum, Daniel P; Gauthier, Laura D; Brand, Harrison; Solomonson, Matthew; Watts, Nicholas A; Rhodes, Daniel; Singer-Berk, Moriel; England, Eleina M; Seaby, Eleanor G; Kosmicki, Jack A; Walters, Raymond K; Tashman, Katherine; Farjoun, Yossi; Banks, Eric; Poterba, Timothy; Wang, Arcturus; Seed, Cotton; Whiffin, Nicola; Chong, Jessica X; Samocha, Kaitlin E; Pierce-Hoffman, Emma; Zappala, Zachary; O'Donnell-Luria, Anne H; Minikel, Eric Vallabh; Weisburd, Ben; Lek, Monkol; Ware, James S; Vittal, Christopher; Armean, Irina M; Bergelson, Louis; Cibulskis, Kristian; Connolly, Kristen M; Covarrubias, Miguel; Donnelly, Stacey; Ferriera, Steven; Gabriel, Stacey; Gentry, Jeff; Gupta, Namrata; Jeandet, Thibault; Kaplan, Diane; Llanwarne, Christopher; Munshi, Ruchi; Novod, Sam; Petrillo, Nikelle; Roazen, David; Ruano-Rubio, Valentin; Saltzman, Andrea; Schleicher, Molly; Soto, Jose; Tibbetts, Kathleen; Tolonen, Charlotte; Wade, Gordon; Talkowski, Michael E; Neale, Benjamin M; Daly, Mark J; MacArthur, Daniel G

Author Correction: Transcript expression-aware annotation improves rare variant interpretation

作者更正:转录本表达感知注释可改善罕见变异的解读

Cummings, Beryl B; Karczewski, Konrad J; Kosmicki, Jack A; Seaby, Eleanor G; Watts, Nicholas A; Singer-Berk, Moriel; Mudge, Jonathan M; Karjalainen, Juha; Satterstrom, F Kyle; O'Donnell-Luria, Anne H; Poterba, Timothy; Seed, Cotton; Solomonson, Matthew; Alföldi, Jessica; Daly, Mark J; MacArthur, Daniel G

Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans

附录:基于141,456名人类变异量化的突变约束谱

Gudmundsson, Sanna; Karczewski, Konrad J; Francioli, Laurent C; Tiao, Grace; Cummings, Beryl B; Alföldi, Jessica; Wang, Qingbo; Collins, Ryan L; Laricchia, Kristen M; Ganna, Andrea; Birnbaum, Daniel P; Gauthier, Laura D; Brand, Harrison; Solomonson, Matthew; Watts, Nicholas A; Rhodes, Daniel; Singer-Berk, Moriel; England, Eleina M; Seaby, Eleanor G; Kosmicki, Jack A; Walters, Raymond K; Tashman, Katherine; Farjoun, Yossi; Banks, Eric; Poterba, Timothy; Wang, Arcturus; Seed, Cotton; Whiffin, Nicola; Chong, Jessica X; Samocha, Kaitlin E; Pierce-Hoffman, Emma; Zappala, Zachary; O'Donnell-Luria, Anne H; Minikel, Eric Vallabh; Weisburd, Ben; Lek, Monkol; Ware, James S; Vittal, Christopher; Armean, Irina M; Bergelson, Louis; Cibulskis, Kristian; Connolly, Kristen M; Covarrubias, Miguel; Donnelly, Stacey; Ferriera, Steven; Gabriel, Stacey; Gentry, Jeff; Gupta, Namrata; Jeandet, Thibault; Kaplan, Diane; Llanwarne, Christopher; Munshi, Ruchi; Novod, Sam; Petrillo, Nikelle; Roazen, David; Ruano-Rubio, Valentin; Saltzman, Andrea; Schleicher, Molly; Soto, Jose; Tibbetts, Kathleen; Tolonen, Charlotte; Wade, Gordon; Talkowski, Michael E; Neale, Benjamin M; Daly, Mark J; MacArthur, Daniel G

Author Correction: Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes

作者更正:125,748 个人类外显子组和 15,708 个基因组中的多核苷酸变异图谱

Wang, Qingbo; Pierce-Hoffman, Emma; Cummings, Beryl B; Alföldi, Jessica; Francioli, Laurent C; Gauthier, Laura D; Hill, Andrew J; O'Donnell-Luria, Anne H; Karczewski, Konrad J; MacArthur, Daniel G

Author Correction: Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals

作者更正:对 15,708 名个体中 5' 非翻译区变异的功能丧失影响进行表征

Whiffin, Nicola; Karczewski, Konrad J; Zhang, Xiaolei; Chothani, Sonia; Smith, Miriam J; Evans, D Gareth; Roberts, Angharad M; Quaife, Nicholas M; Schafer, Sebastian; Rackham, Owen; Alföldi, Jessica; O'Donnell-Luria, Anne H; Francioli, Laurent C; Cook, Stuart A; Barton, Paul J R; MacArthur, Daniel G; Ware, James S

The mutational constraint spectrum quantified from variation in 141,456 humans

通过对 141,456 名人类的变异进行量化,确定了突变约束谱。

Karczewski, Konrad J; Francioli, Laurent C; Tiao, Grace; Cummings, Beryl B; Alföldi, Jessica; Wang, Qingbo; Collins, Ryan L; Laricchia, Kristen M; Ganna, Andrea; Birnbaum, Daniel P; Gauthier, Laura D; Brand, Harrison; Solomonson, Matthew; Watts, Nicholas A; Rhodes, Daniel; Singer-Berk, Moriel; England, Eleina M; Seaby, Eleanor G; Kosmicki, Jack A; Walters, Raymond K; Tashman, Katherine; Farjoun, Yossi; Banks, Eric; Poterba, Timothy; Wang, Arcturus; Seed, Cotton; Whiffin, Nicola; Chong, Jessica X; Samocha, Kaitlin E; Pierce-Hoffman, Emma; Zappala, Zachary; O'Donnell-Luria, Anne H; Minikel, Eric Vallabh; Weisburd, Ben; Lek, Monkol; Ware, James S; Vittal, Christopher; Armean, Irina M; Bergelson, Louis; Cibulskis, Kristian; Connolly, Kristen M; Covarrubias, Miguel; Donnelly, Stacey; Ferriera, Steven; Gabriel, Stacey; Gentry, Jeff; Gupta, Namrata; Jeandet, Thibault; Kaplan, Diane; Llanwarne, Christopher; Munshi, Ruchi; Novod, Sam; Petrillo, Nikelle; Roazen, David; Ruano-Rubio, Valentin; Saltzman, Andrea; Schleicher, Molly; Soto, Jose; Tibbetts, Kathleen; Tolonen, Charlotte; Wade, Gordon; Talkowski, Michael E; Neale, Benjamin M; Daly, Mark J; MacArthur, Daniel G