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

Characterization of Plasma Cell-Free DNA Variants as of Tumor or Clonal Hematopoiesis Origin in 16,812 Advanced Cancer Patients.

对 16,812 例晚期癌症患者的血浆游离 DNA 变异体进行表征,以确定其是肿瘤来源还是克隆性造血来源

Magee Daniel, Domenyuk Valeriy, Abraham Jim, Perdigones Borderias Nieves, Swensen Jeff, Solipuram Praveena, Ayanambakkam Adanma, Mehdi Raja, Challagalla Jagathi, Heath Elisabeth, Landsverk Megan, Jurkiewicz Magdalena, Shimkus Brian, Pinto Ian, Patterson Daniel, Hsiehchen David, Koya Supriya, Somer Bradley, Velez Michel, Shields Anthony F, Cultrera Jennifer, Ribeiro Jennifer R, Hahn-Lowry Robert, Sledge George W, Oberley Matthew, Radovich Milan, Spetzler David

Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability

UBR5基因杂合变异会导致一种神经发育综合征,表现为发育迟缓、自闭症和智力障碍。

Sabeh, Pascale; Dumas, Samantha A; Maios, Claudia; Daghar, Hiba; Korzeniowski, Marek; Rousseau, Justine; Lines, Matthew; Guerin, Andrea; Millichap, John J; Landsverk, Megan; Grebe, Theresa; Lindstrom, Kristin; Strober, Jonathan; Ait Mouhoub, Tarik; Zweier, Christiane; Steinraths, Michelle; Hebebrand, Moritz; Callewaert, Bert; Abou Jamra, Rami; Kautza-Lucht, Monika; Wegler, Meret; Kruszka, Paul; Kumps, Candy; Banne, Ehud; Waberski, Marta Biderman; Dieux, Anne; Raible, Sarah; Krantz, Ian; Medne, Livija; Pechter, Kieran; Villard, Laurent; Guerrini, Renzo; Bianchini, Claudia; Barba, Carmen; Mei, Davide; Blanc, Xavier; Kallay, Christine; Ranza, Emmanuelle; Yang, Xiao-Ru; O'Heir, Emily; Donald, Kirsten A; Murugasen, Serini; Bruwer, Zandre; Calikoglu, Muge; Mathews, Jennifer M; Lesieur-Sebellin, Marion; Baujat, Geneviève; Derive, Nicolas; Pierson, Tyler Mark; Murrell, Jill R; Shillington, Amelle; Ormieres, Clothilde; Rondeau, Sophie; Reis, André; Fernandez-Jaen, Alberto; Au, Ping Yee Billie; Sweetser, David A; Briere, Lauren C; Couque, Nathalie; Perrin, Laurence; Schymick, Jennifer; Gueguen, Paul; Lefebvre, Mathilde; Van Andel, Michael; Juusola, Jane; Antonarakis, Stylianos E; Parker, J Alex; Burnett, Barrington G; Campeau, Philippe M

Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder

线粒体苏氨酰tRNA合成酶(TARS2)相关疾病的临床、神经放射学和分子特征

Accogli, Andrea; Lin, Sheng-Jia; Severino, Mariasavina; Kim, Sung-Hoon; Huang, Kevin; Rocca, Clarissa; Landsverk, Megan; Zaki, Maha S; Al-Maawali, Almundher; Srinivasan, Varunvenkat M; Al-Thihli, Khalid; Schaefer, G Bradly; Davis, Monica; Tonduti, Davide; Doneda, Chiara; Marten, Lara M; Mühlhausen, Chris; Gomez, Maria; Lamantea, Eleonora; Mena, Rafael; Nizon, Mathilde; Procaccio, Vincent; Begtrup, Amber; Telegrafi, Aida; Cui, Hong; Schulz, Heidi L; Mohr, Julia; Biskup, Saskia; Loos, Mariana Amina; Aráoz, Hilda Verónica; Salpietro, Vincenzo; Keppen, Laura Davis; Chitre, Manali; Petree, Cassidy; Raymond, Lucy; Vogt, Julie; Sawyer, Lindsey B; Basinger, Alice A; Pedersen, Signe Vandal; Pearson, Toni S; Grange, Dorothy K; Lingappa, Lokesh; McDunnah, Paige; Horvath, Rita; Cognè, Benjamin; Isidor, Bertrand; Hahn, Andreas; Gripp, Karen W; Jafarnejad, Seyed Mehdi; Østergaard, Elsebet; Prada, Carlos E; Ghezzi, Daniele; Gowda, Vykuntaraju K; Taylor, Robert W; Sonenberg, Nahum; Houlden, Henry; Sissler, Marie; Varshney, Gaurav K; Maroofian, Reza

Novel variants identified in CKAP2L in two siblings with Filippi syndrome

在两名患有菲利皮综合征的同胞中发现了CKAP2L基因的新变异。

Patrick, Ryan J; Weimer, Jill; Davis-Keppen, Laura; Landsverk, Megan L

Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes

赖氨酰tRNA合成酶功能丧失突变会导致多种脑白质病表型。

Sun, Chong; Song, Jie; Jiang, Yanjun; Zhao, Chongbo; Lu, Jiahong; Li, Yuxin; Wang, Yin; Gao, Mingshi; Xi, Jianying; Luo, Sushan; Li, Meixia; Donaldson, Kevin; Oprescu, Stephanie N; Slavin, Thomas P; Lee, Sansan; Magoulas, Pilar L; Lewis, Andrea M; Emrick, Lisa; Lalani, Seema R; Niu, Zhiyv; Landsverk, Megan L; Walkiewicz, Magdalena; Person, Richard E; Mei, Hui; Rosenfeld, Jill A; Yang, Yaping; Antonellis, Anthony; Hou, Ya-Ming; Lin, Jie; Zhang, Victor W

Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome

GM2A基因突变导致进行性舞蹈痴呆综合征

Salih, Mustafa A; Seidahmed, Mohammed Z; El Khashab, Heba Y; Hamad, Muddathir H A; Bosley, Thomas M; Burn, Sabrina; Myers, Angela; Landsverk, Megan L; Crotwell, Patricia L; Bilguvar, Kaya; Mane, Shrikant; Kruer, Michael C

A SUCLG1 mutation in a patient with mitochondrial DNA depletion and congenital anomalies

一名患有线粒体DNA耗竭和先天性异常的患者携带SUCLG1基因突变

Landsverk, Megan L; Zhang, Victor Wei; Wong, Lee-Jun C; Andersson, Hans C

Ubiquilin-1 is a molecular chaperone for the amyloid precursor protein

泛素连接酶-1是淀粉样前体蛋白的分子伴侣。

Stieren, Emily S; El Ayadi, Amina; Xiao, Yao; Siller, Efraín; Landsverk, Megan L; Oberhauser, Andres F; Barral, José M; Boehning, Darren

Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy.

SEPT9 基因的重复与北美遗传性神经痛性肌萎缩症家族的创始人效应有关

Landsverk Megan L, Ruzzo Elizabeth K, Mefford Heather C, Buysse Karen, Buchan Jillian G, Eichler Evan E, Petty Elizabeth M, Peterson Esther A, Knutzen Dana M, Barnett Karen, Farlow Martin R, Caress Judy, Parry Gareth J, Quan Dianna, Gardner Kathy L, Hong Ming, Simmons Zachary, Bird Thomas D, Chance Phillip F, Hannibal Mark C

Requirement of inositol 1,4,5-trisphosphate receptors for tumor-mediated lymphocyte apoptosis

肿瘤介导的淋巴细胞凋亡需要肌醇1,4,5-三磷酸受体

Steinmann, Camia; Landsverk, Megan L; Barral, José M; Boehning, Darren