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R

Robert D. Steiner

university of wisconsin madison
H指数:59
被引数:1.2万

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Implementing evidence-based assertions of clinical actionability in the context of secondary fi ndings: Updates from the ClinGen Actionability Working Group
GENETICS IN MEDICINE
IF6.2
2024-08-010
PRE
Pak, 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
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

MOLECULAR GENETICS AND METABOLISM
IF3.5
2023-09-011
PRE
Goldstein, 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

研究方向

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L
Louise S. Merkens
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A
Andrea E. DeBarber
H 指数:28论文数:70被引数:2,629
W
William E. Connor
H 指数:65论文数:272被引数:1.5万
E
Elsa Shapiro
H 指数:47论文数:256被引数:7,998
C
Chester B. Whitley
H 指数:50论文数:408被引数:7,787
P
Paul Harmatz
H 指数:65论文数:532被引数:1.4万
J
Jean‐Baptiste Roullet
H 指数:19论文数:71被引数:1,313
I
Igor Nestrašil
H 指数:25论文数:182被引数:1,943
P
Peter H. Byers
H 指数:91论文数:418被引数:2.9万
B
Brianna Yund
H 指数:13论文数:94被引数:593