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

De novo heterozygous variants of the RSF1 gene are responsible for a syndromic neurodevelopmental disorder

RSF1基因的新生杂合变异是导致综合征性神经发育障碍的原因。

Jost, Céline; Busa, Tiffany; Wegner, Daniel; Shinawi, Marwan; Schaefer, Elise; Piton, Amélie; Schluth-Bolard, Caroline; Charles, Perrine; Keren, Boris; Mayerhanser, Katharina; Brunet, Theresa; Schatz, Ulrich; Neil, Jennifer E; Walsh, Christopher A; Sisco, Kathleen; J Paul, Alexander; Lee, Chung; Dykzeul, Natalie; Bonner, Devon; Bernstein, Jonathan A; Sutcliffe, Erin; Wentzensen, Ingrid M; Froehlich, Catherine; Liebler, Kaleigh; Galvin Parton, Patricia; Weiss-Burns, Jody; Sagnol, Chloé; Delanne, Julian; Racine, Caroline; Thauvin-Robinet, Christel; Safraou, Hana; Tran Mau-Them, Frédéric; Duffourd, Yannis; Bruel, Ange-Line; Faivre, Laurence

Omics Technologies in Molecular Biology

分子生物学中的组学技术

Ng, Bobby G; Zhang, Wenyue; Neil, Jennifer E; Danish, Marwa; Marafi, Dana; Kamal, Tarek M; Bastaki, Laila; Al Saffar, Muna; Yang, Edward; He, Miao; Walsh, Christopher A; Mochida, Ganeshwaran H; Freeze, Hudson H; Cortés, Andrés J

Pannexin-1 channel activity regulates neurogenesis and cell survival in the developing cortex

Pannexin-1通道活性调节发育中皮层的神经发生和细胞存活

Hylton, Norma K; Kang, David J; Decker, Steven C; Exposito-Alonso, David; Cambridge, Christie N; Golinski, Sean R; Soriano, Karla I; Neil, Jennifer E; Talukdar, Maya; Andersen, Rebecca E; Buckner, Trenton M; Qian, Xuyu; Doddi, Anusha D; Braddock, Stephen R; DeGennaro, Ellen M; Akula, Shyam K; Simo, Sergi; Smith, Richard S; 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

ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration

ADAT3 变体破坏 ADAT tRNA 脱氨酶复合物的活性,并损害神经元迁移。

Del-Pozo-Rodriguez, Jordi; Tilly, Peggy; Lecat, Romain; Vaca, Hugo Rolando; Mosser, Laureline; Brivio, Elena; Balla, Till; Gomes, Marina Vitoria; Ramos-Morales, Elizabeth; Schwaller, Noémie; Salinas-Giegé, Thalia; VanNoy, Grace; England, Eleina M; Kern Lovgren, Alysia; O'Leary, Melanie; Chopra, Maya; Meave Ojeda, Naomi; Toosi, Mehran Beiraghi; Eslahi, Atieh; Alerasool, Masoome; Mojarrad, Majid; Pais, Lynn S; Yeh, Rebecca C; Gable, Dustin L; Hashem, Mais O; Abdulwahab, Firdous; Rakiz Alqurashi, Muath; Sbeih, Loai Z; Adas Blanco, Omar Abu; Khater, Renad Abu; Oprea, Gabriela; Rad, Aboulfazl; Alzaidan, Hamad; Aldhalaan, Hesham; Tous, Ehab; Alsagheir, Afaf; Alowain, Mohammed; Tamim, Abdullah; Alfayez, Khowlah; Alhashem, Amal; Alnuzha, Aisha; Kamel, Mona; Al-Awam, Bashayer S; Elnaggar, Walaa; Almenabawy, Nihal; O'Donnell-Luria, Anne; Neil, Jennifer E; Gleeson, Joseph G; Walsh, Christopher A; Alkuraya, Fowzan S; AlAbdi, Lama; Elkhateeb, Nour; Selim, Laila; Srivastava, Siddharth; Nedialkova, Danny D; Drouard, Laurence; Romier, Christophe; Bayam, Efil; Godin, Juliette D

Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease

在一组未确诊罕见遗传病家族中开展外显子组拷贝数变异的检测、分析和分类

Lemire, Gabrielle; Sanchis-Juan, Alba; Russell, Kathryn; Baxter, Samantha; Chao, Katherine R; Singer-Berk, Moriel; Groopman, Emily; Wong, Isaac; England, Eleina; Goodrich, Julia; Pais, Lynn; Austin-Tse, Christina; DiTroia, Stephanie; O'Heir, Emily; Ganesh, Vijay S; Wojcik, Monica H; Evangelista, Emily; Snow, Hana; Osei-Owusu, Ikeoluwa; Fu, Jack; Singh, Mugdha; Mostovoy, Yulia; Huang, Steve; Garimella, Kiran; Kirkham, Samantha L; Neil, Jennifer E; Shao, Diane D; Walsh, Christopher A; Argilli, Emanuela; Le, Carolyn; Sherr, Elliott H; Gleeson, Joseph G; Shril, Shirlee; Schneider, Ronen; Hildebrandt, Friedhelm; Sankaran, Vijay G; Madden, Jill A; Genetti, Casie A; Beggs, Alan H; Agrawal, Pankaj B; Bujakowska, Kinga M; Place, Emily; Pierce, Eric A; Donkervoort, Sandra; Bönnemann, Carsten G; Gallacher, Lyndon; Stark, Zornitza; Tan, Tiong Yang; White, Susan M; Töpf, Ana; Straub, Volker; Fleming, Mark D; Pollak, Martin R; Õunap, Katrin; Pajusalu, Sander; Donald, Kirsten A; Bruwer, Zandre; Ravenscroft, Gianina; Laing, Nigel G; MacArthur, Daniel G; Rehm, Heidi L; Talkowski, Michael E; Brand, Harrison; O'Donnell-Luria, Anne

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

Bi-allelic variants in INTS11 are associated with a complex neurological disorder

INTS11基因的双等位基因变异与一种复杂的神经系统疾病相关。

Tepe, Burak; Macke, Erica L; Niceta, Marcello; Weisz Hubshman, Monika; Kanca, Oguz; Schultz-Rogers, Laura; Zarate, Yuri A; Schaefer, G Bradley; Granadillo De Luque, Jorge Luis; Wegner, Daniel J; Cogne, Benjamin; Gilbert-Dussardier, Brigitte; Le Guillou, Xavier; Wagner, Eric J; Pais, Lynn S; Neil, Jennifer E; Mochida, Ganeshwaran H; Walsh, Christopher A; Magal, Nurit; Drasinover, Valerie; Shohat, Mordechai; Schwab, Tanya; Schmitz, Chris; Clark, Karl; Fine, Anthony; Lanpher, Brendan; Gavrilova, Ralitza; Blanc, Pierre; Burglen, Lydie; Afenjar, Alexandra; Steel, Dora; Kurian, Manju A; Prabhakar, Prab; Gößwein, Sophie; Di Donato, Nataliya; Bertini, Enrico S; Wangler, Michael F; Yamamoto, Shinya; Tartaglia, Marco; Klee, Eric W; Bellen, Hugo J

Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes

22名智力障碍男性患者的MED12错义变异:从非特异性症状到完全综合征

Maia, Nuno; Ibarluzea, Nekane; Misra-Isrie, Mala; Koboldt, Daniel C; Marques, Isabel; Soares, Gabriela; Santos, Rosário; Marcelis, Carlo L M; Keski-Filppula, Riikka; Guitart, Miriam; Gabau Vila, Elisabeth; Lehman, April; Hickey, Scott; Mori, Mari; Terhal, Paulien; Valenzuela, Irene; Lasa-Aranzasti, Amaia; Cueto-González, Anna Maria; Chhouk, Brian H; Yeh, Rebecca C; Neil, Jennifer E; Abu-Libde, Bassam; Kleefstra, Tjitske; Elting, Mariet W; Császár, Andrea; Kárteszi, Judit; Bessenyei, Beáta; van Bokhoven, Hans; Jorge, Paula; van Hagen, Johanna M; de Brouwer, Arjan P M