O04: Developing a framework for sequence variant interpretation for multiple X-linked inborn errors of metabolism: The ClinGen IEM Working Group Experience
| Main Authors: | , , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2023-01-01
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| Series: | Genetics in Medicine Open |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2949774423000055 |
| _version_ | 1831880693051817984 |
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| author | Emily Groopman Amanda Thomas-Wilson Shruthi Mohan Jennifer Goldstein Meredith Weaver Raquel Fernandez Heidi Wallis Ljuba Caldovic Nicholas Ah Mew Irene De Biase Ann Moser Sharon Suchy Tatiana Yuzyuk Sarah Young Saadet Mercimek-Andrews Nancy Braverman Rong Mao |
| author_facet | Emily Groopman Amanda Thomas-Wilson Shruthi Mohan Jennifer Goldstein Meredith Weaver Raquel Fernandez Heidi Wallis Ljuba Caldovic Nicholas Ah Mew Irene De Biase Ann Moser Sharon Suchy Tatiana Yuzyuk Sarah Young Saadet Mercimek-Andrews Nancy Braverman Rong Mao |
| author_sort | Emily Groopman |
| collection | DOAJ |
| first_indexed | 2024-03-08T10:28:36Z |
| format | Article |
| id | doaj.art-721b83fb247a45fcbe213934bf7cb395 |
| institution | Directory Open Access Journal |
| issn | 2949-7744 |
| language | English |
| last_indexed | 2025-03-21T22:05:50Z |
| publishDate | 2023-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Genetics in Medicine Open |
| spelling | doaj.art-721b83fb247a45fcbe213934bf7cb3952024-05-25T04:56:28ZengElsevierGenetics in Medicine Open2949-77442023-01-0111100005O04: Developing a framework for sequence variant interpretation for multiple X-linked inborn errors of metabolism: The ClinGen IEM Working Group ExperienceEmily Groopman0Amanda Thomas-Wilson1Shruthi Mohan2Jennifer Goldstein3Meredith Weaver4Raquel Fernandez5Heidi Wallis6Ljuba Caldovic7Nicholas Ah Mew8Irene De Biase9Ann Moser10Sharon Suchy11Tatiana Yuzyuk12Sarah Young13Saadet Mercimek-Andrews14Nancy Braverman15Rong Mao16Broad Institute of MIT and Harvard, Cambridge, MA; Boston Children’s Hospital, Boston, MA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MANew York Genome Center, NYUniversity of North Carolina at Chapel Hill, Chapel Hill, NCUniversity of North Carolina at Chapel Hill, Chapel Hill, NCAmerican College of Medical Genetics and Genomics, Bethesda, MDAmerican College of Medical Genetics and Genomics, Bethesda, MDAssociation for Creatine Deficiencies, Carlsbad, CAChildren’s National Hospital, Washington, DCChildren’s National Hospital, Washington, DCUniversity of Utah School of Medicine, Salt Lake City, UTKennedy-Krieger Institute, Baltimore, MDGeneDx LLC, Gaithersburg, MDUniversity of Utah School of Medicine, Salt Lake City, UTDuke University, Durham, NCDepartment of Medical Genetics, University of Alberta, Edmonton, AB, CanadaDepts of Human Genetics and Pediatrics, McGill University, Montreal, QC, CanadaUniversity of Utah School of Medicine, Salt Lake City, UThttp://www.sciencedirect.com/science/article/pii/S2949774423000055 |
| spellingShingle | Emily Groopman Amanda Thomas-Wilson Shruthi Mohan Jennifer Goldstein Meredith Weaver Raquel Fernandez Heidi Wallis Ljuba Caldovic Nicholas Ah Mew Irene De Biase Ann Moser Sharon Suchy Tatiana Yuzyuk Sarah Young Saadet Mercimek-Andrews Nancy Braverman Rong Mao O04: Developing a framework for sequence variant interpretation for multiple X-linked inborn errors of metabolism: The ClinGen IEM Working Group Experience Genetics in Medicine Open |
| title | O04: Developing a framework for sequence variant interpretation for multiple X-linked inborn errors of metabolism: The ClinGen IEM Working Group Experience |
| title_full | O04: Developing a framework for sequence variant interpretation for multiple X-linked inborn errors of metabolism: The ClinGen IEM Working Group Experience |
| title_fullStr | O04: Developing a framework for sequence variant interpretation for multiple X-linked inborn errors of metabolism: The ClinGen IEM Working Group Experience |
| title_full_unstemmed | O04: Developing a framework for sequence variant interpretation for multiple X-linked inborn errors of metabolism: The ClinGen IEM Working Group Experience |
| title_short | O04: Developing a framework for sequence variant interpretation for multiple X-linked inborn errors of metabolism: The ClinGen IEM Working Group Experience |
| title_sort | o04 developing a framework for sequence variant interpretation for multiple x linked inborn errors of metabolism the clingen iem working group experience |
| url | http://www.sciencedirect.com/science/article/pii/S2949774423000055 |
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