ShashikantAKulkarniMD

PubMed

• Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders.
  Kristen M Wigby, Deanna Brockman, Gregory Costain, Caitlin Hale, Stacie L Taylor, John Belmont, David Bick, David Dimmock, Susan Fernbach, John Greally, Vaidehi Jobanp...> ;NPJ Genomic Medicine. 2024 Feb 26
• 47 citations
  Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Gen...
  Peter Horak, Malachi Griffith, Arpad M Danos, Beth A Pitel, Subha Madhavan, Xuelu Liu, Cynthia Chow, Heather Williams, Leigh Carmody, Lisa Barrow-Laing, Damian Rieke, ...> ;Genetics in Medicine. 2022 May 1
• 37 citations
  Best practices for the interpretation and reporting of clinical whole genome sequencing.
  Christina A Austin-Tse, Vaidehi Jobanputra, Denise L Perry, David Bick, Ryan J Taft, Eric Venner, Richard A Gibbs, Ted Young, Sarah Barnett, John W Belmont, Nicole Boc...> ;NPJ Genomic Medicine. 2022 Apr 8
• 3 citations
  A phase I trial evaluating the effects of plerixafor, G-CSF, and azacitidine for the treatment of myelodysplastic syndromes
  Eric Huselton, Michael P. Rettig, Theresa Fletcher, Julie Ritchey, Leah Gehrs, Kyle McFarland, Stephanie Christ, William C. Eades, Kathryn Trinkaus, Rizwan Romee, Shas...> ;Leukemia & Lymphoma. 2021 Jan 19
• 32 citations
  The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic.
  Christian R. Marshall, David P. Bick, John W Belmont, Stacie L Taylor, Euan A. Ashley, David Dimmock, Vaidehi Jobanputra, Hutton M. Kearney, Shashikant Kulkarni, Heidi...> ;Genome Medicine. 2020 May 27
• 9 citations
  A case for expert curation: an overview of cancer curation in the Clinical Genome Resource (ClinGen).
  Deborah I. Ritter, Shruti Rao, Shashikant Kulkarni, Subha Madhavan, Kenneth Offit, Sharon E. Plon> ;Cold Spring Harbor Molecular Case Studies. 2019 Oct 1
• 2 citations
  Publisher Correction: Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA.
  Jinglan Zhang, Jianli Li, Jennifer Saucier, Yanming Feng, Yanjun Jiang, Jefferson Sinson, Anne K. McCombs, Eric S. Schmitt, Sandra Peacock, Stella Chen, Hongzheng Dai,...> ;Nature Medicine. 2019 Apr 1
• 136 citations
  Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA
  Jinglan Zhang, Jianli Li, Jennifer Saucier, Yanming Feng, Yanjun Jiang, Jefferson Sinson, Anne K. McCombs, Eric S. Schmitt, Sandra Peacock, Stella Chen, Hongzheng Dai,...> ;Nature Medicine. 2019 Jan 28
• 10 citations
  Adapting crowdsourced clinical cancer curation in CIViC to the ClinGen minimum variant level data community-driven standards.
  Arpad Danos, Deborah I. Ritter, Alex H. Wagner, Kilannin Krysiak, Dmitriy Sonkin, Christine M. Micheel, Matthew McCoy, Shruti Rao, Gordana Raca, Simina M. Boca, Angshu...> ;Human Mutation. 2018 Nov 1
• 31 citations
  Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes.
  Michael Walsh, Deborah I. Ritter, Chimene Kesserwan, Dmitriy Sonkin, Debyani Chakravarty, Elizabeth C. Chao, Rajarshi Ghosh, Yelena Kemel, Gang Wu, Kristy Lee, Shashik...> ;Human Mutation. 2018 Nov 1
• Standardizing And Democratizing Access To Cancer Molecular Diagnostic Test Data From Patients To Drive Translational Research.
  Subha Madhavan, Deborah A. Ritter, Christine M. Micheel, Shruti Rao, Angshumoy Roy, Dmitriy Sonkin, Matthew McCoy, Malachi Griffith, Obi L. Griffith, Peter B. McGarvey...> ;AMIA Joint Summits on Translational Science Proceedings. AMIA Joint Summits on Translational Science. 2018 May 18
• 9 citations
  Comprehensive discovery of noncoding RNAs in acute myeloid leukemia cell transcriptomes.
  Jin Zhang, Malachi Griffith, Christopher A. Miller, Obi L. Griffith, David H. Spencer, Jason Walker, Vincent Magrini, Sean McGrath, Amy Ly, Nichole M. Helton, Maria Tr...> ;Experimental Hematology. 2017 Nov 1
• 48 citations
  Somatic cancer variant curation and harmonization through consensus minimum variant level data
  Deborah I. Ritter, Sameek Roychowdhury, Angshumoy Roy, Shruti Rao, Melissa J. Landrum, Dmitriy Sonkin, Mamatha Shekar, Caleb F. Davis, Reece K. Hart, Christine M. Mich...> ;Genome Medicine. 2016 Nov 4
• Join now to see all