B Kattman

National Center for Biotechnology Information — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

14h-index8.2kcitations57works24.92yr avg
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Research Topics

Genomics and Rare Diseases(20), Cancer Genomics and Diagnostics(10), Pharmacogenetics and Drug Metabolism(9), BRCA gene mutations in cancer(8), Biomedical Text Mining and Ontologies(5)

Publications57 total

31. Somatic variant classifications in ClinVar: An update after one year
Cancer Genetics·2025
P765: Leveraging dbSNP for screening rare and novel genetic variants in disease and cancer research
Genetics in Medicine Open·2025Open Access
P306: MedGen: An integrated and comprehensive resource for medical genetics concepts and concept-associated information
Genetics in Medicine Open·2025· 1 citedOpen Access
P604: Advancing genomic research: Enhancing dbGaP interoperability with FHIR APIs
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
The evolution of dbSNP: 25 years of impact in genomic research
Nucleic Acids Research·2024· 89 citedOpen Access
The Clinical Genome Resource (ClinGen): Advancing genomic knowledge through global curation
Genetics in Medicine·2024· 42 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
ClinVar supports automated submission by API
Molecular Genetics and Metabolism·2021
G6PD deficiency and pharmacogenetics: safer prescribing with Medical Genetics Summaries (MGS)
Molecular Genetics and Metabolism·2021
Codeine Therapy and CYP2D6 Genotype
2021· 1 cited
Table 2. [The CPIC Codeine Therapy Recommendations based on CYP2D6 Phenotype (2020)].
2021
How the NIH Genetic Testing Registry and Medical Genetics Summaries can help oncologists adopt pharmacogenetics guidelines.
Journal of Clinical Oncology·2020· 1 cited
SPDI: data model for variants and applications at NCBI
Bioinformatics·2019· 61 cited
Human sequence alignment data set used for analysis of SPDI algorithm and tools
Zenodo (CERN European Organization for Nuclear Research)·2019Open Access
Human sequence alignment data set used for analysis of SPDI algorithm and tools
Figshare·2019Open Access
ClinVar: improvements to accessing data
Nucleic Acids Research·2019· 1.0k citedOpen Access
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Frequent Co-authors

Adriana Malheiro(31), Wendy S. Rubinstein(21), Pratt(18), H. L. McLeod(15), Shanmuga Chitipiralla(13), Melissa Landrum(12), Douglas Hoffman(12), Laura Dean(12), Zenith Maddipatla(11), Donna Maglott(11), Wonhee Jang(10), Baoshan Gu(7), Guangfeng Song(7), Garth Brown(6), Chao Chen(6), Jennifer Hart(6), George Riley(6), J. Bradley Holmes(6), Lon Phan(6), Megan Kane(6)