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

Diverse Genetic Etiologies of Unilateral Polymicrogyria

单侧多小脑回畸形的多种遗传病因

Lai, Abbe; Neil, Jennifer E; Akula, Shyam K; Amrom, Dina; Andermann, Eva; Bergin, Ann; Caraballo, Roberto; Chen, Allen Y; Gaitanis, John; Mochida, Ganeshwaran H; Gotoff, Jill M; Kuchukhidze, Giorgi; Marom, Daphna; ElAchkar, Christelle Moufawad; Regev, Miriam; Rodan, Lance H; Olson, Heather; Zhang, Bo; Poduri, Annapurna; Shao, Diane D; Walsh, Christopher A; Yang, Edward

Scaling genomic reanalysis to unlock diagnoses and transform rare disease care

扩大基因组再分析规模,以突破诊断难题,变革罕见病治疗。

Rockowitz, Shira; Shao, Wanqing; French, Courtney; Truong, Tina K; Hagen, Jacob; McGonigle, Rylee; Geltzeiler, Alexa; Sheidley, Beth; Smith, Lacey; D'Gama, Alissa M; Irons, Mira; Chou, Janet; Stoler, Joan; Kritzer, Amy; Rodan, Lance; Shimamura, Akiko; Bodamer, Olaf; Sacharow, Stephanie; Soul, Janet S; Srivastava, Siddharth; Kennedy, Amy Roberts; Abu-El-Haija, Aya; Lai, Abbe; Olson, Heather; Juusola, Jane; Ryan, Erin; Friedman, Bethany; Singh, Anupama; Li, Cliff; Mallik, Rittika; Strickland, Gwendolyn; Prinzing, Gillian; Mo, Alisa; O'Donnell-Luria, Anne; Bolton, Jeff; Boone, Philip M; Brucker, William; Duyzend, Michael; Mahida, Sonal; Miller, David T; Omorodion, Jacklyn; Petit, Jeanette; Picker, Jonathan; Poduri, Annapurna; Carlston, Colleen; Wojcik, Monica H; Sliz, Piotr; Chung, Wendy K

Activating Ras-MAPK pathway variants drive hippocampal clonal competition in human epilepsy

激活Ras-MAPK通路变体驱动人类癫痫海马克隆竞争

Khoshkhoo, Sattar; Bae, Mingyun; Wang, Yilan; Tillett, Ashton; Ramirez, Rosita B; Finander, Benjamin; Egan, Emily D; Marx, Linus; Patel, Dipan; Zhou, Zinan; Chahine, Yasmine; Chhouk, Brian; Zoullas, Sofia M; Lai, Abbe; Coras, Roland; Bielle, Franck; Navarro, Vincent; Mathon, Bertrand; Valiante, Taufik A; Moradi Chameh, Homeira; Gao, Andrew F; Krings, Timo; Gooley, Samuel; Hildebrand, Michael S; Bulluss, Kristian; Clark, Jonathan; Morokoff, Andrew P; King, James A; Todaro, Marian; Kwan, Patrick; O'Brien, Terence J; Berkovic, Samuel F; Scheffer, Ingrid E; Perucca, Piero; Lapinskas, Emily; Rolston, John D; Cosgrove, G Rees; Sarkis, Rani A; D'Gama, Alissa M; Alexadrescu, Sanda; Yang, Edward; Poduri, Annapurna; Richardson, R Mark; Erson-Omay, E Zeynep; DeLanerolle, Nihal; Spencer, Dennis D; Brown, Katherine S-M; Miller, Michael B; Roberts, Amy E; Santos, Luana N; Kontaridis, Maria I; Bien, Christian G; Blacklow, Stephen C; Kahle, Kristopher T; Blümcke, Ingmar; Huang, August Yue; Lee, Eunjung Alice; Walsh, Christopher A

Spatial transcriptomics reveals human cortical layer and area specification.

空间转录组学揭示人类皮层层级和区域的具体特征

Qian Xuyu, Coleman Kyle, Jiang Shunzhou, Kriz Andrea J, Marciano Jack H, Luo Chunyu, Cai Chunhui, Manam Monica Devi, Caglayan Emre, Lai Abbe, Exposito-Alonso David, Otani Aoi, Ghosh Urmi, Shao Diane D, Andersen Rebecca E, Neil Jennifer E, Johnson Robert, LeFevre Alexandra, Hecht Jonathan L, Micali Nicola, Sestan Nenad, Rakic Pasko, Miller Michael B, Sun Liang, Stringer Carsen, Li Mingyao, Walsh Christopher A

Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria

外显子组测序及多小脑回畸形中新基因和共同机制的鉴定

Akula, Shyam K; Chen, Allen Y; Neil, Jennifer E; Shao, Diane D; Mo, Alisa; Hylton, Norma K; DiTroia, Stephanie; Ganesh, Vijay S; Smith, Richard S; O'Kane, Katherine; Yeh, Rebecca C; Marciano, Jack H; Kirkham, Samantha; Kenny, Connor J; Song, Janet H T; Al Saffar, Muna; Millan, Francisca; Harris, David J; Murphy, Andrea V; Klemp, Kara C; Braddock, Stephen R; Brand, Harrison; Wong, Isaac; Talkowski, Michael E; O'Donnell-Luria, Anne; Lai, Abbe; Hill, Robert Sean; Mochida, Ganeshwaran H; Doan, Ryan N; Barkovich, A James; Yang, Edward; Amrom, Dina; Andermann, Eva; Poduri, Annapurna; Walsh, Christopher A

Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature

KDM2B相关神经发育障碍及其相关DNA甲基化特征的阐明

van Jaarsveld, Richard H; Reilly, Jack; Cornips, Marie-Claire; Hadders, Michael A; Agolini, Emanuele; Ahimaz, Priyanka; Anyane-Yeboa, Kwame; Bellanger, Severine Audebert; van Binsbergen, Ellen; van den Boogaard, Marie-Jose; Brischoux-Boucher, Elise; Caylor, Raymond C; Ciolfi, Andrea; van Essen, Ton A J; Fontana, Paolo; Hopman, Saskia; Iascone, Maria; Javier, Margaret M; Kamsteeg, Erik-Jan; Kerkhof, Jennifer; Kido, Jun; Kim, Hyung-Goo; Kleefstra, Tjitske; Lonardo, Fortunato; Lai, Abbe; Lev, Dorit; Levy, Michael A; Lewis, M E Suzanne; Lichty, Angie; Mannens, Marcel M A M; Matsumoto, Naomichi; Maya, Idit; McConkey, Haley; Megarbane, Andre; Michaud, Vincent; Miele, Evelina; Niceta, Marcello; Novelli, Antonio; Onesimo, Roberta; Pfundt, Rolph; Popp, Bernt; Prijoles, Eloise; Relator, Raissa; Redon, Sylvia; Rots, Dmitrijs; Rouault, Karen; Saida, Ken; Schieving, Jolanda; Tartaglia, Marco; Tenconi, Romano; Uguen, Kevin; Verbeek, Nienke; Walsh, Christopher A; Yosovich, Keren; Yuskaitis, Christopher J; Zampino, Giuseppe; Sadikovic, Bekim; Alders, Mariëlle; Oegema, Renske

A recurrent de novo variant in NUSAP1 escapes nonsense-mediated decay and leads to microcephaly, epilepsy, and developmental delay

NUSAP1基因中一种反复出现的新生突变能够逃脱无义介导的mRNA降解,并导致小头畸形、癫痫和发育迟缓。

Mo, Alisa; Paz-Ebstein, Emuna; Yanovsky-Dagan, Shira; Lai, Abbe; Mor-Shaked, Hagar; Gilboa, Tal; Yang, Edward; Shao, Diane D; Walsh, Christopher A; Harel, Tamar

The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2

ClinGen脑畸形变异注释专家组:AKT3、MTOR、PIK3CA和PIK3R2体细胞变异规则

Lai, Abbe; Soucy, Aubrie; El Achkar, Christelle Moufawad; Barkovich, Anthony J; Cao, Yang; DiStefano, Marina; Evenson, Michael; Guerrini, Renzo; Knight, Devon; Lee, Yi-Shan; Mefford, Heather C; Miller, David T; Mirzaa, Ghayda; Mochida, Ganesh; Rodan, Lance H; Patel, Mayher; Smith, Lacey; Spencer, Sara; Walsh, Christopher A; Yang, Edward; Yuskaitis, Christopher J; Yu, Timothy; Poduri, Annapurna

Mendelian etiologies identified with whole exome sequencing in cerebral palsy

利用全外显子组测序鉴定脑瘫的孟德尔病因

Chopra, Maya; Gable, Dustin L; Love-Nichols, Jamie; Tsao, Alexa; Rockowitz, Shira; Sliz, Piotr; Barkoudah, Elizabeth; Bastianelli, Lucia; Coulter, David; Davidson, Emily; DeGusmao, Claudio; Fogelman, David; Huth, Kathleen; Marshall, Paige; Nimec, Donna; Sanders, Jessica Solomon; Shore, Benjamin J; Snyder, Brian; Stone, Scellig S D; Ubeda, Ana; Watkins, Colyn; Berde, Charles; Bolton, Jeffrey; Brownstein, Catherine; Costigan, Michael; Ebrahimi-Fakhari, Darius; Lai, Abbe; O'Donnell-Luria, Anne; Paciorkowski, Alex R; Pinto, Anna; Pugh, John; Rodan, Lance; Roe, Eugene; Swanson, Lindsay; Zhang, Bo; Kruer, Michael C; Sahin, Mustafa; Poduri, Annapurna; Srivastava, Siddharth

Polymicrogyria is Associated With Pathogenic Variants in PTEN

多小脑回畸形与PTEN基因的致病变异相关

Shao, Diane D; Achkar, Christelle M; Lai, Abbe; Srivastava, Siddharth; Doan, Ryan N; Rodan, Lance H; Chen, Allen Y; Poduri, Annapurna; Yang, Edward; Walsh, Christopher A