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

Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders

对使用一线基因组测序诊断罕见遗传疾病的证据审查和注意事项

Wigby, Kristen M; Brockman, Deanna; Costain, Gregory; Hale, Caitlin; Taylor, Stacie L; Belmont, John; Bick, David; Dimmock, David; Fernbach, Susan; Greally, John; Jobanputra, Vaidehi; Kulkarni, Shashikant; Spiteri, Elizabeth; Taft, Ryan J

Multi-center implementation of rapid whole genome sequencing provides additional evidence of its utility in the pediatric inpatient setting

多中心快速全基因组测序的实施进一步证明了其在儿科住院环境中的实用性。

Thompson, Lauren; Larson, Austin; Salz, Lisa; Veith, Regan; Tsai, John-Paul; Jayakar, Anuj; Chapman, Rachel; Gupta, Apeksha; Kingsmore, Stephen F; Dimmock, David; Bedrick, Alan; Galindo, Maureen Kelly; Casas, Kari; Mohamed, Mohamed; Straight, Lisa; Khan, M Akram; Salyakina, Daria

Parent and patient knowledge and attitudes about cancer predisposition syndrome genetic testing in pediatric oncology: Understanding sociodemographic and parent-child differences

儿童肿瘤学中家长和患者对癌症易感综合征基因检测的认知和态度:了解社会人口学和亲子差异

Rapoport, Chelsea S; Masser-Frye, Diane; Mehta, Sapna; Choi, Alyssa K; Olfus, Sydney; Korhummel, Megan; Hoyo, Veronica; Dimmock, David; Malcarne, Vanessa L; Kuo, Dennis J

Variant STAT4 and Response to Ruxolitinib in an Autoinflammatory Syndrome

STAT4 变异体与自身炎症综合征中对鲁索替尼的反应

Baghdassarian, Hratch; Blackstone, Sarah A; Clay, Owen S; Philips, Rachael; Matthiasardottir, Brynja; Nehrebecky, Michele; Hua, Vivian K; McVicar, Rachael; Liu, Yang; Tucker, Suzanne M; Randazzo, Davide; Deuitch, Natalie; Rosenzweig, Sofia; Mark, Adam; Sasik, Roman; Fisch, Kathleen M; Pimpale Chavan, Pallavi; Eren, Elif; Watts, Norman R; Ma, Chi A; Gadina, Massimo; Schwartz, Daniella M; Sanyal, Anwesha; Werner, Giffin; Murdock, David R; Horita, Nobuyuki; Chowdhury, Shimul; Dimmock, David; Jepsen, Kristen; Remmers, Elaine F; Goldbach-Mansky, Raphaela; Gahl, William A; O'Shea, John J; Milner, Joshua D; Lewis, Nathan E; Chang, Johanna; Kastner, Daniel L; Torok, Kathryn; Oda, Hirotsugu; Putnam, Christopher D; Broderick, Lori

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

The evolution of the mitochondrial disease diagnostic odyssey

线粒体疾病诊断历程的演变

Thompson, John L P; Karaa, Amel; Pham, Hung; Yeske, Philip; Krischer, Jeffrey; Xiao, Yi; Long, Yuelin; Kramer, Amanda; Dimmock, David; Holbert, Amy; Gorski, Cliff; Engelstad, Kristin M; Buchsbaum, Richard; Rosales, Xiomara Q; Hirano, Michio

Correction to: The evolution of the mitochondrial disease diagnostic odyssey

更正:线粒体疾病诊断历程的演变

Thompson, John L P; Karaa, Amel; Pham, Hung; Yeske, Philip; Krischer, Jeffrey; Xiao, Yi; Long, Yuelin; Kramer, Amanda; Dimmock, David; Holbert, Amy; Gorski, Cliff; Engelstad, Kristin M; Buchsbaum, Richard; Rosales, Xiomara Q; Hirano, Michio

The Genomic landscape of short tandem repeats across multiple ancestries

跨多个祖先的短串联重复序列的基因组图谱

Vijayaraghavan, Prashanth; Batalov, Sergey; Ding, Yan; Sanford, Erica; Kingsmore, Stephen F; Dimmock, David; Hobbs, Charlotte; Bainbridge, Matthew