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R

Robert D. Steiner

university of wisconsin madison

59H指数
379论文数
1.2W被引数
收录论文 131
发表时间
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A retrospective cohort study of the economic burden of Pompe disease in patients treated with enzyme replacement therapy in the United States在美国接受酶替代疗法治疗的患者中，庞贝病经济负担的回顾性队列研究
errJOURNAL OF MEDICAL ECONOMICS
IF3
err2025-12-31
err0
errOAAI
errSteiner, Robert D.; Haselkorn, Tmirah; Pillai, Nishitha R.; Young, Christopher; Solomon, Faryn; Xie, Bin; Rozario, Nigel; Walzer, Mark; Schoser, Benedikt
err分享
err收藏
One SQ HEDGES DNA vector only dose produces durable hGLA or anti-SARS-CoV-2 mAb therapeutic serum protein levels
errPLOS ONE
IF2.6
err2025-10-31
err0
PREAI
errYe, Alice; Mack, Marissa; Ice, Ryan; Heath, Tim; Ericksson, Elof; Shoor, Stanford; Steiner, Robert D.; Handumrongkul, Chakkrapong; Debs, Robert
err分享
err收藏
One IV HEDGES DNA vector administration encoding hGLA or hGH produces durable hGLA and hGH serum lvels in immunocompetent mice
errPLOS ONE
IF2.6
err2025-10-31
err0
PREAI
errYe, Alice; Mack, Marissa; Ursu, Sarah; Chmura, Stephen; Steiner, Robert; Heath, Tim; Handumrongkul, Chakkrapong; Debs, Robert
err分享
err收藏
A retrospective cohort study describing the disease burden in patients with Pompe disease treated with enzyme replacement therapy in the United States一项描述在美国接受酶替代治疗的庞贝病患者疾病负担的回顾性队列研究
errJournal of Neuromuscular Diseases
IF3.4
err2025-10-28
err0
errOAAI
errNishitha R Pillai; Faryn Solomon; Robert D Steiner; Bin Xie; Tmirah Haselkorn; Christopher Young; Nigel Rozario; Mark Walzer; Benedikt Schoser
err分享
err收藏
Genetic characterization of a large cohort of individuals with a clinical suspicion of hypophosphatasia in the United States在美国，一大群临床怀疑有低磷酸酯酶症的个体的遗传特征
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-03-01
err0
PREAI
errRush, Eric T.; del Angel, Guillermo; Dong, Juan; Bates, Toby; Steiner, Robert D.; Cox, Allison
err分享
err收藏
Retrospective cohort study evaluating the disease burden of patients with Pompe disease treated with enzyme replacement therapy in the United States
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errPillai, Nishitha R.; Solomon, Faryn; Steiner, Robert D.; Xie, Bin; Haselkorn, Tmirah; Young, Christopher; Walzer, Mark; Schoser, Benedikt
err分享
err收藏
Retrospective cohort study evaluating the economic burden of patients with Pompe disease treated with enzyme replacement therapy in the United States
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errSteiner, Robert D.; Haselkorn, Tmirah; Pillai, Nishitha R.; Young, Christopher; Solomon, Faryn; Xie, Bin; Walzer, Mark; Schoser, Benedikt
err分享
err收藏
Guidance on Use of Race, Ethnicity, and Geographic Origin as Proxies for Genetic Ancestry Groups in Biomedical Publications
errOBSTETRICAL & GYNECOLOGICAL SURVEY
IF3.6
err2024-11-01
err0
PREAI
errFeero, W. Gregory; Steiner, Robert D.; Slavotinek, Anne; Faial, Tiago; Bamshad, Michael J.; Austin, Jehannine; Korf, Bruce R.; Flanagin, Annette; Bibbins-Domingo, Kirsten
err分享
err收藏
Implementing evidence-based assertions of clinical actionability in the context of secondary fi ndings: Updates from the ClinGen Actionability Working Group
errGENETICS IN MEDICINE
IF6.2
err2024-08-01
err0
PREAI
errPak, Christine M.; Gilmore, Marian J.; Bulkley, Joanna E.; Chakraborty, Pranesh; Dagan-Rosenfeld, Orit; Foreman, Ann Katherine M.; Gollob, Michael H.; Jenkins, Charisma L.; Katz, Alexander E.; Lee, Kristy; Meeks, Naomi; O'Daniel, Julianne M.; Posey, Jennifer E.; Rego, Shannon M.; Shah, Neethu; Steiner, Robert D.; Stergachis, Andrew B.; Subramanian, Sai Lakshmi; Trotter, Tracy; Wallace, Kathleen; Williams, Marc S.; Goddard, Katrina A. B.; Buchanan, Adam H.; Manickam, Kandamurugu; Powell, Bradford; Hunter, Jessica Ezzell
err分享
err收藏
Guidance on Use of Race, Ethnicity, and Geographic Origin as Proxies for Genetic Ancestry Groups in Biomedical Publications
errGENETICS IN MEDICINE
IF6.2
err2024-05-01
err0
errOAAI
errFeero, W. Gregory; Steiner, Robert D.; Slavotinek, Anne; Faial, Tiago; Bamshad, Michael J.; Austin, Jehannine; Korf, Bruce R.; Flanagin, Annette; Bibbins-Domingo, Kirsten
err分享
err收藏
Guidance on Use of Race, Ethnicity, and Geographic Origin as Proxies for Genetic Ancestry Groups in Biomedical Publications
errJAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
IF55
err2024-04-16
err8
PREAI
errFeero, W. Gregory; Steiner, Robert D.; Slavotinek, Anne; Faial, Tiago; Bamshad, Michael J.; Austin, Jehannine; Korf, Bruce R.; Flanagin, Annette; Bibbins-Domingo, Kirsten
err分享
err收藏
Guidance on use of race, ethnicity, and geographic origin as proxies for genetic ancestry groups in biomedical publications
errHUMAN GENETICS AND GENOMICS ADVANCES
IF3.6
err2024-04-01
err1
errOAAI
errFeero, W. Gregory; Steiner, Robert D.; Slavotinek, Anne; Faial, Tiago; Bamshad, Michael J.; Austin, Jehannine; Korf, Bruce R.; Flanagin, Annette; Bibbins-Domingo, Kirsten
err分享
err收藏
Newborn screening for lipid disorders
errCURRENT OPINION IN LIPIDOLOGY
IF4.6
err2024-02-26
err1
PREAI
errShao, Xiangqiang; Steiner, Robert; Peterson, Amy L.
err分享
err收藏
It is Time to Screen for Homozygous Familial Hypercholesterolemia in the United States是时候在美国筛查纯合子家族性高胆固醇血症了
errGLOBAL HEART
IF3.1
err2024-01-01
err1
errOAAI
errGidding, Samuel S.; Ballantyne, Christie M.; Cuchel, Marina; de Ferranti, Sarah; Hudgins, Lisa; Jamison, Allison; McGwan, Mary P.; Peterson, Amy L.; Steiner, Robert D.; Uveges, Melissa K.; Wang, Yunshu
err分享
err收藏
Living with Cerebrotendinous Xanthomatosis: Patient, Caregiver, and Expert Perspectives患有脑膜黄瘤病: 患者，护理人员和专家观点
errADVANCES IN THERAPY
IF4
err2023-12-19
err0
errOAAI
errSteiner, Robert D.; Debarber, Andrea; Larson, Austin; Blanchard, Bobbi; Laurie, Shawn; Odedara, Neel; Rosengrant, Hollisa; Dutta, Rana
err分享
err收藏
Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel庞贝病的变异分类; ClinGen溶酶体病变异治疗专家小组的ACMG/AMP规范
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2023-09-01
err1
PREAI
errGoldstein, Jennifer L.; Mcglaughon, Jennifer; Kanavy, Dona; Goomber, Shelly; Pan, Yinghong; Deml, Brett; Donti, Taraka; Kearns, Liz; Seifert, Bryce A.; Schachter, Miriam; Son, Rachel G.; Thaxton, Courtney; Udani, Rupa; Bali, Deeksha; Baudet, Heather; Caggana, Michele; Hung, Christina; Kyriakopoulou, Lianna; Rosenblum, Lynne; Steiner, Robert; Pinto e Vairo, Filippo; Wang, Yang; Watson, Michael; Fernandez, Raquel; Weaver, Meredith; Clarke, Lorne; Rehder, Catherine
err分享
err收藏
In Memoriam: G. Stephen (Steve) Tint, PhD (1935-2022)
errJOURNAL OF LIPID RESEARCH
IF4.1
err2023-08-01
err0
errOAAI
errFliesler, Steven J.; Steiner, Robert D.
err分享
err收藏
COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis
errHUMAN MOLECULAR GENETICS
IF3.2
err2023-07-18
err4
PREAI
errRebello, Denise; Wohler, Elizabeth; Erfani, Vida; Li, Guozhuang; Aguilera, Alexya N.; Santiago-Cornier, Alberto; Zhao, Sen; Hwang, Steven W.; Steiner, Robert D.; Zhang, Terry Jianguo; Gurnett, Christina A.; Raggio, Cathleen; Wu, Nan; Sobreira, Nara; Giampietro, Philip F.; Ciruna, Brian
err分享
err收藏
Taste-masked formulation of sodium phenylbutyrate (ACER-001) for the treatment of urea cycle disorders
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2023-04-01
err2
errOAAI
errCederbaum, Stephen D.; Edwards, Jeffrey; Kellmeyer, Terrie; Peters, Yvette; Steiner, Robert D.
err分享
err收藏
UANTIFYING PREFERENCES FOR UREA CYCLE DISORDER TREATMENTS USING A DISCRETE CHOICE EXPERIMENT
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2023-03-01
err0
PREAI
errQuartel, Adrian; Edelblut, Josiah; Skaar, Jeffrey; Hilton, John; Seibt, Matthew; Martin, Kyle; Hadker, Nandini; Steiner, Robert
err分享
err收藏

研究方向

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