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

Clinical characterization of Collagen XII-related disease caused by biallelic COL12A1 variants.

由双等位基因 COL12A1 变异引起的 XII 型胶原蛋白相关疾病的临床特征

McCarty Riley M, Saade Dimah, Munot Pinki, Laverty Chamindra G, Pinz Hailey, Zou Yaqun, McAnally Meghan, Yun Pomi, Tian Cuixia, Hu Ying, Feng Lucy, Phadke Rahul, Ceulemans Sophia, Magoulas Pilar, Skalsky Andrew J, Friedman Jennifer R, Braddock Stephen R, Neuhaus Sarah B, Malicki Denise M, Bainbridge Matthew N, Nahas Shareef, Dimmock David P, Kingsmore Stephen F, Lotze Timothy E, Foley A Reghan, Muntoni Francesco, Straub Volker, Donkervoort Sandra, Bönnemann Carsten G

From roadmap to a sustainable end-to-end individualized therapy pathway

从路线图到可持续的端到端个体化治疗路径

Jonker, Anneliene H; Tataru, Elena-Alexandra; Dimmock, David P; Bateman-House, Alison; Graessner, Holm; Baynam, Gareth; Augustine, Erika F; Jaffe, Adam; Pasmooij, Anna M G; Iliach, Oxana; Horgan, Richard; Davies, James; Mitkus, Shruti; Lapteva, Larissa; Synofzik, Matthis; Yu, Timothy W; O'Connor, Daniel; Aartsma-Rus, Annemieke

Response to Grosse et al

对 Grosse 等人的回应

Kingsmore, Stephen F; Smith, Laurie D; Kunard, Chris M; Bainbridge, Matthew; Batalov, Sergey; Benson, Wendy; Blincow, Eric; Caylor, Sara; Chambers, Christina; Del Angel, Guillermo; Dimmock, David P; Ding, Yan; Ellsworth, Katarzyna; Feigenbaum, Annette; Frise, Erwin; Green, Robert C; Guidugli, Lucia; Hall, Kevin P; Hansen, Christian; Hobbs, Charlotte A; Kahn, Scott D; Kiel, Mark; Van Der Kraan, Lucita; Krilow, Chad; Kwon, Yong H; Madhavrao, Lakshminarasimha; Le, Jennie; Lefebvre, Sebastien; Mardach, Rebecca; Mowrey, William R; Oh, Danny; Owen, Mallory J; Powley, George; Scharer, Gunter; Shelnutt, Seth; Tokita, Mari; Mehtalia, Shyamal S; Oriol, Albert; Papadopoulos, Stavros; Perry, James; Rosales, Edwin; Sanford, Erica; Schwartz, Steve; Tran, Duke; Reese, Martin G; Wright, Meredith; Veeraraghavan, Narayanan; Wigby, Kristen; Willis, Mary J; Wolen, Aaron R; Defay, Thomas

Breaking Barriers to Rapid Whole Genome Sequencing in Pediatrics: Michigan's Project Baby Deer

突破儿科快速全基因组测序的障碍:密歇根州的“小鹿计划”

Bupp, Caleb P; Ames, Elizabeth G; Arenchild, Madison K; Caylor, Sara; Dimmock, David P; Fakhoury, Joseph D; Karna, Padmani; Lehman, April; Meghea, Cristian I; Misra, Vinod; Nolan, Danielle A; O'Shea, Jessica; Sharangpani, Aditi; Franck, Linda S; Scheurer-Monaghan, Andrea

Genomic sequencing has a high diagnostic yield in children with congenital anomalies of the heart and urinary system

基因组测序对患有先天性心脏和泌尿系统畸形的儿童具有很高的诊断率。

Allred, Erika T; Perens, Elliot A; Coufal, Nicole G; Sanford Kobayashi, Erica; Kingsmore, Stephen F; Dimmock, David P

Immune Responses and Immunosuppressive Strategies for Adeno-Associated Virus-Based Gene Therapy for Treatment of Central Nervous System Disorders: Current Knowledge and Approaches

腺相关病毒基因疗法治疗中枢神经系统疾病的免疫反应和免疫抑制策略:当前知识和方法

Prasad, Suyash; Dimmock, David P; Greenberg, Benjamin; Walia, Jagdeep S; Sadhu, Chanchal; Tavakkoli, Fatemeh; Lipshutz, Gerald S

Healthcare Professionals' Attitudes toward Rapid Whole Genome Sequencing in Pediatric Acute Care

医疗专业人员对儿科急症护理中快速全基因组测序的态度

Franck, Linda S; Scheurer-Monaghan, Andrea; Bupp, Caleb P; Fakhoury, Joseph D; Hoffmann, Thomas J; Deshpandey, Manasi; Arenchild, Madison; Dimmock, David P

Wastewater sequencing uncovers early, cryptic SARS-CoV-2 variant transmission

废水测序揭示了早期隐匿的SARS-CoV-2变异株传播

Karthikeyan, Smruthi; Levy, Joshua I; De Hoff, Peter; Humphrey, Greg; Birmingham, Amanda; Jepsen, Kristen; Farmer, Sawyer; Tubb, Helena M; Valles, Tommy; Tribelhorn, Caitlin E; Tsai, Rebecca; Aigner, Stefan; Sathe, Shashank; Moshiri, Niema; Henson, Benjamin; Mark, Adam M; Hakim, Abbas; Baer, Nathan A; Barber, Tom; Belda-Ferre, Pedro; Chacón, Marisol; Cheung, Willi; Cresini, Evelyn S; Eisner, Emily R; Lastrella, Alma L; Lawrence, Elijah S; Marotz, Clarisse A; Ngo, Toan T; Ostrander, Tyler; Plascencia, Ashley; Salido, Rodolfo A; Seaver, Phoebe; Smoot, Elizabeth W; McDonald, Daniel; Neuhard, Robert M; Scioscia, Angela L; Satterlund, Alysson M; Simmons, Elizabeth H; Abelman, Dismas B; Brenner, David; Bruner, Judith C; Buckley, Anne; Ellison, Michael; Gattas, Jeffrey; Gonias, Steven L; Hale, Matt; Hawkins, Faith; Ikeda, Lydia; Jhaveri, Hemlata; Johnson, Ted; Kellen, Vince; Kremer, Brendan; Matthews, Gary; McLawhon, Ronald W; Ouillet, Pierre; Park, Daniel; Pradenas, Allorah; Reed, Sharon; Riggs, Lindsay; Sanders, Alison; Sollenberger, Bradley; Song, Angela; White, Benjamin; Winbush, Terri; Aceves, Christine M; Anderson, Catelyn; Gangavarapu, Karthik; Hufbauer, Emory; Kurzban, Ezra; Lee, Justin; Matteson, Nathaniel L; Parker, Edyth; Perkins, Sarah A; Ramesh, Karthik S; Robles-Sikisaka, Refugio; Schwab, Madison A; Spencer, Emily; Wohl, Shirlee; Nicholson, Laura; Mchardy, Ian H; Dimmock, David P; Hobbs, Charlotte A; Bakhtar, Omid; Harding, Aaron; Mendoza, Art; Bolze, Alexandre; Becker, David; Cirulli, Elizabeth T; Isaksson, Magnus; Barrett, Kelly M Schiabor; Washington, Nicole L; Malone, John D; Schafer, Ashleigh Murphy; Gurfield, Nikos; Stous, Sarah; Fielding-Miller, Rebecca; Garfein, Richard S; Gaines, Tommi; Anderson, Cheryl; Martin, Natasha K; Schooley, Robert; Austin, Brett; MacCannell, Duncan R; Kingsmore, Stephen F; Lee, William; Shah, Seema; McDonald, Eric; Yu, Alexander T; Zeller, Mark; Fisch, Kathleen M; Longhurst, Christopher; Maysent, Patty; Pride, David; Khosla, Pradeep K; Laurent, Louise C; Yeo, Gene W; Andersen, Kristian G; Knight, Rob

Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome

基于快速测序的硫胺素代谢功能障碍综合征诊断

Owen, Mallory J; Niemi, Anna-Kaisa; Dimmock, David P; Speziale, Mark; Nespeca, Mark; Chau, Kevin K; Van Der Kraan, Luca; Wright, Meredith S; Hansen, Christian; Veeraraghavan, Narayanan; Ding, Yan; Lenberg, Jerica; Chowdhury, Shimul; Hobbs, Charlotte A; Batalov, Sergey; Zhu, Zhanyang; Nahas, Shareef A; Gilmer, Sheldon; Knight, Gail; Lefebvre, Sebastien; Reynders, John; Defay, Thomas; Weir, Jacqueline; Thomson, Vicki S; Fraser, Louise; Lajoie, Bryan R; McPhail, Tim K; Mehtalia, Shyamal S; Kunard, Chris M; Hall, Kevin P; Kingsmore, Stephen F

An online compendium of treatable genetic disorders

可治疗遗传疾病的在线汇编

Bick, David; Bick, Sarah L; Dimmock, David P; Fowler, Tom A; Caulfield, Mark J; Scott, Richard H