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Author Details

Shashikant Kulkarni
Centene Center for Health Transformation, Centene Corporation
1998
83
36
PMIDPaper TitleJournal TitlePublished Year
35168839Public perceptions and the willingness to get vaccinated against COVID-19: Lessons from Israel.Vaccine2022
35395838Best practices for the interpretation and reporting of clinical whole genome sequencing.NPJ Genom Med2022
36518871Prevalence of Long-COVID Among Low-Income and Marginalized Groups: Evidence From Israel.Int J Public Health2022
36063163Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC).Genet Med2022
35101336Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC).Genet Med2022
35221690Mipomersen in Familial Hypercholesterolemia: An Update on Health-Related Quality of Life and Patient-Reported Outcomes.Vasc Health Risk Manag2022
35065974Intention to vaccinate children for COVID-19: A segmentation analysis among Medicaid parents in Florida.Prev Med2022
33467957A phase I trial evaluating the effects of plerixafor, G-CSF, and azacitidine for the treatment of myelodysplastic syndromes.Leuk Lymphoma2021
33516696Prevention: The past, present, and future of medicine and society.J Clin Lipidol2021
32460895The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic.Genome Med2020
31794935Utility of copy number variants in the classification of intracranial ependymoma.Cancer Genet2020
33110627Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease.NPJ Genom Med2020
33319814Clinical utility of genomic sequencing: a measurement toolkit.NPJ Genom Med2020
30692697Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA.Nat Med2019
31645350A case for expert curation: an overview of cancer curation in the Clinical Genome Resource (ClinGen).Cold Spring Harb Mol Case Stud2019
30787481Publisher Correction: Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA.Nat Med2019
29218886ClinGen Cancer Somatic Working Group - standardizing and democratizing access to cancer molecular diagnostic data to drive translational research.Pac Symp Biocomput2018
29888062Standardizing And Democratizing Access To Cancer Molecular Diagnostic Test Data From Patients To Drive Translational Research.AMIA Jt Summits Transl Sci Proc2018
30311370Adapting crowdsourced clinical cancer curation in CIViC to the ClinGen minimum variant level data community-driven standards.Hum Mutat2018
30311369Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes.Hum Mutat2018
29779165The Association of Statin Therapy with Incident Diabetes: Evidence, Mechanisms, and Recommendations.Curr Cardiol Rep2018
29625052Pathogenic Germline Variants in 10,389 Adult Cancers.Cell2018
29327716Genomic heterogeneity of ALK fusion breakpoints in non-small-cell lung cancer.Mod Pathol2018
29249244Authors' Reply.J Mol Diagn2018
27993330Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer: A Joint Consensus Recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists.J Mol Diagn2017
28760689Comprehensive discovery of noncoding RNAs in acute myeloid leukemia cell transcriptomes.Exp Hematol2017
27181063Comprehensive genomic analysis reveals FLT3 activation and a therapeutic strategy for a patient with relapsed adult B-lymphoblastic leukemia.Exp Hematol2016
26601658Multigenerational autosomal dominant inheritance of 5p chromosomal deletions.Am J Med Genet A2016
27814769Somatic cancer variant curation and harmonization through consensus minimum variant level data.Genome Med2016
25345567Clinical next-generation sequencing in patients with non-small cell lung cancer.Cancer2015
26305651Association Between Mutation Clearance After Induction Therapy and Outcomes in Acute Myeloid Leukemia.JAMA2015
26244121Congenital Acute Myeloid Leukemia with Unique Translocation t(11;19)(q23;p13.3).Cureus2015
26645048Optimizing cancer genome sequencing and analysis.Cell Syst2015
26258847Genomic analysis of mycosis fungoides and Sézary syndrome identifies recurrent alterations in TNFR2.Nat Genet2015
26154004Good laboratory practice for clinical next-generation sequencing informatics pipelines.Nat Biotechnol2015
25421800Next generation sequencing in clinical diagnostics: experiences of early adopters.Clin Chem2015
25439741Genetic alterations in renal cell carcinoma with rhabdoid differentiation.Hum Pathol2015
25564734TBX6 null variants and a common hypomorphic allele in congenital scoliosis.N Engl J Med2015
23692340Genetic variation in MKL2 and decreased downstream PCTAIRE1 expression in extreme, fatal primary human microcephaly.Clin Genet2014
24458548Scoliosis and vertebral anomalies: additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement.Am J Med Genet A2014
24246242Molecular and phenotypic characterization of atypical Williams-Beuren syndrome.Clin Genet2014
24211365Validation of a next-generation sequencing assay for clinical molecular oncology.J Mol Diagn2014
23300014NR2F1 haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay.Am J Med Genet A2013
24303327Clinical genomicist workstation.AMIA Jt Summits Transl Sci Proc2013
24440060Introduction.Cancer Genet2013
23825691Germinal center B-cells resist transformation by Kras independently of tumor suppressor Arf.PLoS One2013
23665875A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds.G3 (Bethesda)2013
23634996Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia.N Engl J Med2013
23494996Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions.Am J Med Genet A2013
23239491Duplication of 20p12.3 associated with familial Wolff-Parkinson-White syndrome.Am J Med Genet A2013
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Collaborators

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The Ohio State University
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St. Jude Children's Research Hospital
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McDonnell Genome Institute, Washington University School of Medicine
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The Ohio State University
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Washington University School of Medicine.
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Innovation Center for Biomedical Informatics, Georgetown University Medical Center
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National Cancer Institute
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Co-authored papers 7
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Co-authored papers 7
McDonnell Genome Institute, Washington University School of Medicine
Co-authored papers 7
Washington University School of Medicine
Co-authored papers 7
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Co-authored papers 7
University of Texas MD Anderson Cancer Center
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Genomics England Ltd.
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Baylor College of Medicine
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Washington University
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Massachusetts General Hospital
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The Ohio State University
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Washington University School of Medicine in St. Louis
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