Selina S. Dwight

Grail (United States) — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

23h-index54.2kcitations40works2.62yr avg
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Research Topics

Bioinformatics and Genomic Networks(13), Fungal and yeast genetics research(10), Genomics and Rare Diseases(9), Fermentation and Sensory Analysis(5), Biomedical Text Mining and Ontologies(5)

Publications40 total

Progressive neurodegeneration, motor decline, and premature mortality in aging Ngly1 deficient rats
Orphanet Journal of Rare Diseases·2026Open Access
Progressive Neurodegeneration, Motor Decline, and Premature Mortality in Aging Ngly1 Deficient Rats
2025Open Access
Preclinical pharmacology and safety studies to support an AAV9 NGLY1 gene therapy clinical trial for the treatment of NGLY1 deficiency
Molecular Therapy — Methods & Clinical Development·2025· 1 citedOpen Access
Advancing Sustainable Practices in Additive Manufacturing: A Comprehensive Review on Material Waste Recyclability
Sustainability·2024· 12 citedOpen Access
NGLY1 deficiency natural history study
Molecular Genetics and Metabolism·2024
NGLY1 deficiency: a prospective natural history study
Human Molecular Genetics·2023· 11 citedOpen Access
NGLY1 Deficiency: A Prospective Natural History Study (NHS)
2023Open Access
NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry
Orphanet Journal of Rare Diseases·2022· 23 citedOpen Access
AAV9-NGLY1 gene replacement therapy improves phenotypic and biomarker endpoints in a rat model of NGLY1 Deficiency
Molecular Therapy — Methods & Clinical Development·2022· 22 citedOpen Access
ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines
Genome Medicine·2022· 79 citedOpen Access
GlcNAc-Asn is a biomarker for NGLY1 deficiency
The Journal of Biochemistry·2021· 28 citedOpen Access
ClinGen Variant Curation Interface: A Variant Classification Platform for the Application of Evidence Criteria from ACMG/AMP Guidelines
2021· 5 citedOpen Access
Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource
UNC Libraries·2020Open Access
Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene
Human Mutation·2018· 69 citedOpen Access
ClinGen Allele Registry links information about genetic variants
Human Mutation·2018· 67 citedOpen Access
Cover Image, Volume 39, Issue 11
Human Mutation·2018
Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource
The American Journal of Human Genetics·2017· 537 citedOpen Access
Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the Clinical Genome Resource
2017· 56 citedOpen Access
ClinGen’s gene and variant curation interface suite: centralized and consistent evaluation of the clinical relevance of genes and variants
Faculty of 1000 Research Ltd·2017Open Access
Providing Access to Genomic Variant Knowledge in a Healthcare Setting: A Vision for the ClinGen Electronic Health Records Workgroup
Clinical Pharmacology & Therapeutics·2015· 15 citedOpen Access
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Frequent Co-authors

J. Michael Cherry(23), David Botstein(13), Kara Dolinski(13), Shuai Weng(11), Rama Balakrishnan(10), Maria C. Costanzo(10), Karen Christie(9), Stacia R. Engel(9), Robert S Nash(9), Gail Binkley(9), Matt W. Wright(9), D. G. Fisk(8), Jodi Hirschman(8), Eurie L. Hong(8), Catherine A. Ball(7), Midori A. Harris(7), William F. Mueller(7), Marek S. Skrzypek(6), Edith D. Wong(6), Sharon E. Plon(6)