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

Beyond the Fragile X protein: neighborhood characteristics explain individual differences in IQ and adaptive behaviors of Fragile X syndrome

超越脆性X蛋白:社区特征解释脆性X综合征患者智商和适应性行为的个体差异

McKinney, Walker S; Corsmeier, Austin; Dapore, Ashley; Gross, Christina; Dominick, Kelli C; Erickson, Craig A; Schmitt, Lauren M

Vertical stratification of the air microbiome in the lower troposphere

对流层低层空气微生物群落的垂直分层

Drautz-Moses, Daniela I; Luhung, Irvan; Gusareva, Elena S; Kee, Carmon; Gaultier, Nicolas E; Premkrishnan, Balakrishnan N V; Lee, Choou Fook; Leong, See Ting; Park, Changsook; Yap, Zhei Hwee; Heinle, Cassie E; Lau, Kenny J X; Purbojati, Rikky W; Lim, Serene B Y; Lim, Yee Hui; Kutmutia, Shruti Ketan; Aung, Ngu War; Oliveira, Elaine L; Ng, Soo Guek; Dacanay, Justine; Ang, Poh Nee; Spence, Sam; Phung, Wen Jia; Wong, Anthony; Kennedy, Ryan J; Kalsi, Namrata; Sasi, Santhi Puramadathil; Chandrasekaran, Lakshmi; Uchida, Akira; Junqueira, Ana Carolina M; Kim, Hie Lim; Hankers, Rudolf; Feuerle, Thomas; Corsmeier, Ulrich; Schuster, Stephan C

Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth

体细胞PIK3R1变异是血管畸形和过度生长的原因

Cottrell, Catherine E; Bender, Nicole R; Zimmermann, Michael T; Heusel, Jonathan W; Corliss, Meagan; Evenson, Michael J; Magrini, Vincent; Corsmeier, Donald J; Avenarius, Matthew; Dudley, Jeffrey N; Johnston, Jennifer J; Lindhurst, Marjorie J; Vigh-Conrad, Katinka; Davies, Olivia M T; Coughlin, Carrie C; Frieden, Ilona J; Tollefson, Megha; Zaenglein, Andrea L; Ciliberto, Heather; Tosi, Laura L; Semple, Robert K; Biesecker, Leslie G; Drolet, Beth A

Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience

临床外显子组测序中与疾病相关的嵌合变异:一项为期两年的儿科三级医疗经验

Miller, Cecelia R; Lee, Kristy; Pfau, Ruthann B; Reshmi, Shalini C; Corsmeier, Donald J; Hashimoto, Sayaka; Dave-Wala, Ashita; Jayaraman, Vijayakumar; Koboldt, Daniel; Matthews, Theodora; Mouhlas, Danielle; Stein, Maggie; McKinney, Aimee; Grossman, Tom; Kelly, Benjamin J; White, Peter; Magrini, Vincent; Wilson, Richard K; Mardis, Elaine R; Cottrell, Catherine E

In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis

两例肌萎缩和关节挛缩症患者的BICD2基因框内新生突变

Koboldt, Daniel C; Kastury, Rama D; Waldrop, Megan A; Kelly, Benjamin J; Mosher, Theresa Mihalic; McLaughlin, Heather; Corsmeier, Don; Slaughter, Jonathan L; Flanigan, Kevin M; McBride, Kim L; Mehta, Lakshmi; Wilson, Richard K; White, Peter

Human CRMP4 mutation and disrupted Crmp4 expression in mice are associated with ASD characteristics and sexual dimorphism

人类CRMP4基因突变和小鼠Crmp4表达紊乱与自闭症谱系障碍特征和性别二态性相关。

Tsutiya, Atsuhiro; Nakano, Yui; Hansen-Kiss, Emily; Kelly, Benjamin; Nishihara, Masugi; Goshima, Yoshio; Corsmeier, Don; White, Peter; Herman, Gail E; Ohtani-Kaneko, Ritsuko

A patient with van Maldergem syndrome with endocrine abnormalities, hypogonadotropic hypogonadism, and breast aplasia/hypoplasia

一名患有范马尔德根综合征并伴有内分泌异常、低促性腺激素性性腺功能减退症和乳房发育不全/发育不良的患者

Sotos, Juan; Miller, Katherine; Corsmeier, Donald; Tokar, Naomi; Kelly, Benjamin; Nadella, Vijay; Zhong, Huachun; Wetzel, Amy; Adler, Brent; Yu, Chack-Yung; White, Peter

A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20

一项针对先天性心血管左侧病变的全基因组关联研究显示,该病变与20号染色体上的一个基因位点相关。

Hanchard, Neil A; Swaminathan, Shanker; Bucasas, Kristine; Furthner, Dieter; Fernbach, Susan; Azamian, Mahshid S; Wang, Xueqing; Lewin, Mark; Towbin, Jeffrey A; D'Alessandro, Lisa C A; Morris, Shaine A; Dreyer, William; Denfield, Susan; Ayres, Nancy A; Franklin, Wayne J; Justino, Henri; Lantin-Hermoso, M Regina; Ocampo, Elena C; Santos, Alexia B; Parekh, Dhaval; Moodie, Douglas; Jeewa, Aamir; Lawrence, Emily; Allen, Hugh D; Penny, Daniel J; Fraser, Charles D; Lupski, James R; Popoola, Mojisola; Wadhwa, Lalita; Brook, J David; Bu'Lock, Frances A; Bhattacharya, Shoumo; Lalani, Seema R; Zender, Gloria A; Fitzgerald-Butt, Sara M; Bowman, Jessica; Corsmeier, Don; White, Peter; Lecerf, Kelsey; Zapata, Gladys; Hernandez, Patricia; Goodship, Judith A; Garg, Vidu; Keavney, Bernard D; Leal, Suzanne M; Cordell, Heather J; Belmont, John W; McBride, Kim L

Utilization of Whole Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart Disease

利用全外显子组测序鉴定家族性先天性心脏病的致病突变

Stephanie LaHaye, Don Corsmeier, Madhumita Basu, Jessica L Bowman, Sara Fitzgerald-Butt, Gloria Zender, Kevin Bosse, Kim L McBride, Peter White, Vidu Garg

Churchill: an ultra-fast, deterministic, highly scalable and balanced parallelization strategy for the discovery of human genetic variation in clinical and population-scale genomics

Churchill:一种用于在临床和群体规模基因组学中发现人类遗传变异的超快速、确定性、高度可扩展和平衡的并行化策略

Kelly, Benjamin J; Fitch, James R; Hu, Yangqiu; Corsmeier, Donald J; Zhong, Huachun; Wetzel, Amy N; Nordquist, Russell D; Newsom, David L; White, Peter