Douglas Hoffman

National Center for Biotechnology Information — United States

Medicine · Health Sciences

21h-index10.3kcitations57works18.42yr avg
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Research Topics

Glaucoma and retinal disorders(16), Retinal Imaging and Analysis(10), Retinal Diseases and Treatments(9), Genomics and Rare Diseases(8), Corneal surgery and disorders(7)

Publications56 total

31. Somatic variant classifications in ClinVar: An update after one year
Cancer Genetics·2025
P306: MedGen: An integrated and comprehensive resource for medical genetics concepts and concept-associated information
Genetics in Medicine Open·2025· 1 citedOpen Access
P655: Improved representation of functional data in ClinVar
Genetics in Medicine Open·2025Open Access
P729: Improved display and search of tests in the NIH Genetic Testing Registry (GTR)
Genetics in Medicine Open·2025Open Access
ClinVar: updates to support classifications of both germline and somatic variants
Nucleic Acids Research·2024· 91 citedOpen Access
O30: Graphics and filters make it easier to evaluate many variants in ClinVar search results*
Genetics in Medicine Open·2023Open Access
eP369: Increased automation reduces turnaround time for submissions to ClinVar
Genetics in Medicine·2022Open Access
Contributors
Elsevier eBooks·2022
ClinVar supports automated submission by API
Molecular Genetics and Metabolism·2021
Novel Method for Accurately Assessing Pull-up Artifacts in STR Analysis
Forensic Science International Genetics·2020· 9 citedOpen Access
Perceived TMT transformational leadership and a service recovery culture: the moderating role of gender diversity
Leadership & Organization Development Journal·2020· 8 cited
How the NIH Genetic Testing Registry and Medical Genetics Summaries can help oncologists adopt pharmacogenetics guidelines.
Journal of Clinical Oncology·2020· 1 cited
ClinVar: improvements to accessing data
Nucleic Acids Research·2019· 1.0k citedOpen Access
ClinVar: improving access to variant interpretations and supporting evidence
Nucleic Acids Research·2017· 4.2k citedOpen Access
VISUALIZING SOLIDS OF REVOLUTION IN GEOGEBRA
2016· 2 cited
ClinVar: public archive of interpretations of clinically relevant variants
Nucleic Acids Research·2015· 2.8k citedOpen Access
From carrier screening to single gene PGD: an analysis of 762 couples screened via an expanded carrier screening platform
Fertility and Sterility·2014Open Access
The Domain Testing Workbook
CERN Document Server (European Organization for Nuclear Research)·2013· 14 cited
Phenotype–Genotype Integrator (PheGenI): synthesizing genome-wide association study (GWAS) data with existing genomic resources
European Journal of Human Genetics·2013· 239 citedOpen Access
The NIH genetic testing registry: a new, centralized database of genetic tests to enable access to comprehensive information and improve transparency
Nucleic Acids Research·2012· 188 citedOpen Access
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Frequent Co-authors

Joseph Caprioli(16), Shanmuga Chitipiralla(13), B Kattman(12), Wonhee Jang(11), Zenith Maddipatla(11), Melissa Landrum(8), George Riley(8), Garth Brown(7), Chao Chen(7), Baoshan Gu(7), Donna Maglott(7), Jennifer Hart(6), Guangfeng Song(6), Chunlei Liu(5), Adriana Malheiro(5), Kuljeet Kaur(5), Rama Maiti(5), Andrew Russette(5), George Zhou(4), Vitaly Lyoshin(4)