Applying phenotypic evidence to support the molecular diagnosis of inborn errors of metabolism (IEMS) across diverse clinical contexts: The ClinGen IEM variant curation expert panel (VCEP) experience

被引：0

作者：

Groopman, Emily ^{[1
]}

Goldstein, Jenny ^{[2
]}

Dickson, Alexa ^{[3
]}

Zastrow, Diane ^{[4
]}

Mohan, Shruthi ^{[2
]}

Thomas-Wilson, Amanda ^{[5
]}

Caldovic, Ljubica ^{[6
]}

Kyle, Emily ^{[7
]}

Yuzyuk, Tatiana ^{[8
]}

De Biase, Irene ^{[9
]}

Simpson, Kara ^{[1
]}

Kanavy, Dona ^{[2
]}

Spector, Elaine ^{[10
]}

Pasquali, Marzia ^{[8
]}

Rehder, Catherine ^{[11
]}

Stergachis, Andrew ^{[12
]}

Whirl-Carlo, Michelle ^{[13
]}

Baudet, Heather ^{[2
]}

Hung, Christina

Braverman, Nancy E. ^{[14
]}

Mercimek-Andrews, Saadet ^{[15
]}

Weaver, Meredith ^{[7
]}

Craigen, William ^{[16
]}

Mao, Rong ^{[8
]}

机构：

[1] Childrens Natl Hosp, Washington, DC USA

[2] Univ North Carolina Chapel Hill, Chapel Hill, NC USA

[3] Washington Univ, Sch Med, St Louis, MO USA

[4] Invitae, San Francisco, CA USA

[5] New York Genome Ctr, New York, NY USA

[6] Childrens Natl Hosp, Ctr Genet Med Res, Washington, DC USA

[7] Amer Coll Med Genet & Genom, Bethesda, MD USA

[8] ARUP Labs, Salt Lake City, UT USA

[9] Univ Utah, Dept Pathol, Sch Med, Salt Lake City, UT USA

[10] Univ Colorado Anschutz Med Sch, Aurora, CO USA

[11] Duke Univ, Dept Pathol, Durham, NC USA

[12] Univ Washington, Div Med Genet, Dept Med, Seattle, WA USA

[13] Stanford Univ, Sch Med, Stanford, CA USA

[14] McGill Univ, Montreal, PQ, Canada

[15] Univ Alberta, Dept Med Genet, Edmonton, AB, Canada

[16] Baylor Coll Med, Houston, TX USA

来源：

MOLECULAR GENETICS AND METABOLISM | 2024年 / 141卷 / 04期

关键词：

D O I：

10.1016/j.ymgme.2024.108165

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页数：1