Author: "Jennifer Goldstein" / Journal: molecular genetics and metabolism - Searchworks@Jio Institute Digital Library Search Results

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Your search keyword '"Jennifer Goldstein"' showing total 4 results

Start Over Author "Jennifer Goldstein" Journal molecular genetics and metabolism

4 results on '"Jennifer Goldstein"'

1. Evaluating the strength of evidence for genes implicated in peroxisomal disorders using the ClinGen clinical validity framework and providing updates to the peroxisomal disease nomenclature

Author: Shruthi Mohan, Megan Mayers, Meredith Weaver, Heather Baudet, Irene De Biase, Jennifer Goldstein, Rong Mao, Jennifer McGlaughon, Ann Moser, Aurora Pujol, Sharon Suchy, Tatiana Yuzyuk, and Nancy E. Braverman
Subjects: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry
Published: 2023

2. THE CLINGEN LYSOSOMAL DISEASES GENE CURATION EXPERT PANEL: APPLYING A STANDARDIZED CURATION FRAMEWORK TO ASSESS THE CLINICAL VALIDITY OF GENES FOR LYSOSOMAL DISEASE

Author: Rong Mao, Emily Groopman, Raquel Fernandez, Shruthi Mohan, Amber Stafford, Heather Baudet, Meredith Weaver, Lorne Clarke, Christina Hung, Deeksha Bali, Filippo Pinto e Vairo, Lemuel Racacho, Tatiana Yuzyuk, William Craigen, and Jennifer Goldstein
Subjects: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry
Published: 2023

3. The ClinGen Lysosomal Diseases Gene Curation Panel: Applying a standardized curation framework to assess the clinical validity of genes for lysosomal disease

Author: Emily Groopman, Raquel Fernandez, Shruthi Mohan, Amber Stafford, Meredith Weaver, Lorne Clarke, Christina Hung, Rong Mao, Deeksha Bali, Filippo Vairo, Tatiana Yuzyuk, William J. Craigen, and Jennifer Goldstein
Subjects: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry
Published: 2023

4. Improving Pompe diagnostics through modification of the ACMG-AMP variant classification criteria by the Clinical Genome Resources (ClinGen) Lysosomal Storage Diseases Variant Curation Expert Panel

Author: Catherine Rehder, Jennifer Goldstein, Deeksha Bali, and ClinGen Lysosomal Storage Diseases Variant Curation Expert Panel
Subjects: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Computational biology, Biology, Molecular Biology, Biochemistry, Genome
Published: 2019

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