换一批
换一批STANDARDIZING METABOLIC DISEASE GENE AND VARIANT CURATION: THE CLINGEN INBORN ERRORS OF METABOLISM WORKING GROUP
作者：
Zastrow, Diane [1]
;
Baudet, Heather [2]
;
Thomas, Amanda [3]
;
Shen, Wei [4]
;
Si, Cindy [5]
;
Weaver, Meredith [6]
;
Liu, Jixia [7]
;
Goldstein, Jenny [8]
;
Thaxton, Courtney [9]
;
Ross, Justyne [10]
;
Crowley, Stephanie [11]
;
Kurtz, C. Lisa [12]
;
McGlaughon, Jennifer [13]
;
Seifert, Bryce [14]
;
Udani, Rupa [15]
;
Wallace, Kathleen [16]
;
Enns, Gregory [17]
;
Feigenbaum, Annette [18]
;
Lichter-Konecki, Uta ;
Lyon, Elaine ;
Pasquali, Marzia ;
Blau, Nenad ;
Bali, Deeksha ;
Caganna, Michele ;
Hegde, Madhuri ;
Mooney, Sean ;
Senol, Ozlem ;
Watson, Michael ;
Rehder, Catherine ;
Steiner, Robert ;
Craigen, William ;
Mao, Rong
作者单位：
ARUP Labs, Salt Lake City, UT USA
[1]
Columbia Univ, Irving Med Ctr, New York, NY USA
[2]
Univ N Carolina, Chapel Hill, NC 27515 USA
[3]
Stanford Univ, Stanford, CA 94305 USA
[4]
Emory Univ, Sch Med, Emory Genet Lab, Atlanta, GA USA
[5]
Univ Wisconsin, Sch Med & Publ Hlth, Madison, WI USA
[6]
Duke Univ, Sch Med, Durham, NC USA
[7]
New York State Dept Hlth, Wadsworth Ctr, Newborn Screening Program, Albany, NY USA
[8]
Amer Coll Med Genet & Genom, Bethesda, MD USA
[9]
Univ Calif San Diego, Rady Childrens Hosp, San Diego, CA 92103 USA
[10]
GeneDx, Gaithersburg, MD USA
[11]
UPMC, Childrens Hosp Pittsburg, Pittsburgh, PA USA
[12]
Univ Childrens Hosp, Dittmar Hopp Metab Ctr, Heidelberg, Germany
[13]
Brigham & Womens Hosp, Dept Pathol, 75 Francis St, Boston, MA 02115 USA
[14]
Univ Washington, Seattle, WA 98195 USA
[15]
Univ Utah, Salt Lake City, UT USA
[16]
Marshfield Clin Res Inst, Marshfield, WI USA
[17]
Baylor Coll Med, Houston, TX 77030 USA
[18]
发布时间
2020-04-10
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Molecular genetics and metabolism
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