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

Targeted deep sequencing identifies mosaicism in patients with immune dysregulation

靶向深度测序可识别免疫失调患者的嵌合现象

Schmitz, Elizabeth G; Paul, Alexander J; Ghosh, Rajarshi; Saucier, Nermina; Kolicheski, Ana; Risma, Samuel I; McDaniels, Kristen P; Liu, Michelle; Lewis, Katie L; de Jesus, Adriana A; Alehashemi, Sara; Fronick, Catrina C; Stein, David; Dominguez, Daniela; Hiraki, Linda T; Lee, Jessica H; Norman, Stephanie; Peng, Christine R; Ward, Brant R; Pettiford, Leah H; Platt, Anna; Lawrence, Monica G; Rocco, Joseph M; Al-Herz, Waleed; Zerbe, Christa S; Atkinson, T Prescott; Peng, Xiao P; Allenspach, Eric J; Hoytema van Konijnenburg, David P; Platt, Craig D; Elkins, Megan; Walter, Jolan E; Bleesing, Jack J; Klion, Amy; Ramaswami, Ramya; Uzel, Gulbu; Lionakis, Michail S; Dissanayake, Dilan; Su, Helen C; Cortese, Irene; Fuss, Ivan J; Bergerson, Jenna R E; Dropulic, Lesia; Sereti, Irini; Lisco, Andrea; Itan, Yuval; Milner, Joshua D; Bogunovic, Dusan; Goldbach-Mansky, Raphaela; Rao, V Koneti; Delmonte, Ottavia M; Notarangelo, Luigi D; Keller, Michael D; Durkee-Shock, Jessica; Cohen, Jeffrey I; Similuk, Morgan N; Holland, Steven M; Griffith, Malachi; Griffith, Obi L; Vogel, Tiphanie P; Canna, Scott; Freeman, Alexandra F; Walkiewicz, Magdalena A; Cooper, Megan A

Clinical relevance of mosaic variants detected by exome sequencing

外显子组测序检测到的嵌合变异的临床意义

Ghosh, Rajarshi; Fazal, Zeeshan; Oler, Andrew J; Tokita, Mari J; Lewis, Katie L; Paul, Alexander J; Schmitz, Elizabeth G; Saucier, Nermina; Yan, Jia; Kamen, Michael; Seifert, Bryce A; Klion, Amy D; Khoury, Paneez; Delmonte, Ottavia M; Notarangelo, Luigi D; Freeman, Alexandra F; Zerbe, Christa S; Uzel, Gulbu; Metcalfe, Dean D; Komarow, Hirsh D; Carter, Melody C; McDermott, David H; Murphy, Philip M; Olivier, Kenneth N; Fuss, Ivan; Strober, Warren; Rao, V Koneti; Bergerson, Jenna R E; Almeida de Jesus, Adriana; Goldbach-Mansky, Raphaela; Al-Herz, Waleed; Holland, Steven M; Cooper, Megan A; Similuk, Morgan N; Walkiewicz, Magdalena A

Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5.

与 SLC17A5 组织特异性嵌合相关的非典型游离唾液酸贮积症

Shinawi Marwan, Wegner Daniel J, Paul Alexander J, Buchser William, Schmidt Robert, Sharma Jaiprakash, Sardiello Marco, Sisco Kathleen, Manwaring Linda, Reynolds Margaret, Fulton Robert, Fronick Catrina, Shaver Andrew, Huang Tina Y, Carroll Ashley, Roessler Kyria, Halpern Aaron L, Dickson Patricia I, Wambach Jennifer A

Mosaic STAT5B gain-of-function associated with demyelinating disease and autoimmunity

与脱髓鞘疾病和自身免疫相关的 STAT5B 嵌合体功能获得

Schmitt, Erica G; Saucier, Nermina; Risma, Samuel I; Arbag, Sena N; Kolicheski, Ana; Paul, Alexander J; Toler, Tomi L; Semkiu, Katarina; Mar, Soe S; Milner, Joshua D; Bednarski, Jeffrey J; Cooper, Megan A

Homozygous, Intragenic Tandem Duplication of SFTPB Causes Neonatal Respiratory Failure

SFTPB基因纯合子内串联重复导致新生儿呼吸衰竭

Wambach, Jennifer A; Wegner, Daniel J; Kitzmiller, Joseph; White, Frances V; Heins, Hillary B; Yang, Ping; Paul, Alexander J; Granadillo, Jorge L; Eghtesady, Pirooz; Kuklinski, Cadence; Turner, Tiffany; Fairman, Korre; Stone, Kristyne; Wilson, Theodore; Breman, Amy; Smith, Janice; Schroeder, Molly C; Neidich, Julie A; Whitsett, Jeffrey A; Cole, F Sessions

Whole-Genome and Long-Read Sequencing Identify a Novel Mechanism in RFC1 Resulting in CANVAS Syndrome

全基因组和长读长测序揭示了RFC1中导致CANVAS综合征的新机制

King, Katherine Abell; Wegner, Daniel J; Bucelli, Robert C; Shapiro, Jessica; Paul, Alexander J; Dickson, Patricia I; Wambach, Jennifer A

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

用于发现未确诊病例中解释性变异的计算工作流程的共性

Kobren, Shilpa Nadimpalli; Baldridge, Dustin; Velinder, Matt; Krier, Joel B; LeBlanc, Kimberly; Esteves, Cecilia; Pusey, Barbara N; Züchner, Stephan; Blue, Elizabeth; Lee, Hane; Huang, Alden; Bastarache, Lisa; Bican, Anna; Cogan, Joy; Marwaha, Shruti; Alkelai, Anna; Murdock, David R; Liu, Pengfei; Wegner, Daniel J; Paul, Alexander J; Sunyaev, Shamil R; Kohane, Isaac S

Using Apache Spark on genome assembly for scalable overlap-graph reduction

利用 Apache Spark 进行基因组组装以实现可扩展的重叠图缩减

Paul, Alexander J; Lawrence, Dylan; Song, Myoungkyu; Lim, Seung-Hwan; Pan, Chongle; Ahn, Tae-Hyuk