
Shashikant Kulkarni, MS (Medicine), PhD, MBA, FACMG
Department of Anatomical Pathology, Division of Pathology-Lab Medicine Div
About Dr. Shashikant Kulkarni
I am a board-certified Medical Geneticist with over 30 years of experience in academic medicine as well as industry. As an academic leader and a senior President and "C-suite" corporate executive, I have dedicated my career to clinical genomics, translational research, and precision medicine in Oncology, rare diseases and maternal fetal medicine. My passion is developing cost-effective, evidence-driven diagnostic tools that enhance patient-centric care.Throughout my journey, I have focused on pioneering multi-omic solutions for precision genomic medicine, building cross-functional partnerships, and fostering multi-disciplinary collaborations that drive innovation in healthcare.
My leadership experience spans roles at NeoGenomics, Baylor College of Medicine, and Washington University School of Medicine in St. Louis. I bring a unique blend of clinical multi-omics expertise, translational research acumen, and leadership skills across both academic and corporate environments. I am certified by the American Board of Medical Genetics and Genomics (ABMGG), a board recognized by the American Board of Medical Specialties (ABMS), with dual certifications in Clinical Molecular Genetics & Genomics and Clinical Cytogenetics & Genomics. My work is dedicated to leveraging genomic and multi-omic tools to enhance precision diagnostics, particularly in oncology, with the ultimate goal of advancing cancer diagnostics and treatment.
I received my academic training at globally renowned institutions, including Harvard Medical School, Imperial College London, and the All India Institute of Medical Sciences (AIIMS) in New Delhi. Most recently, I served as the President and Chief Scientific Officer at NeoGenomics, a publicly traded oncology diagnostic company (NASDAQ: NEO). In this role, I led clinical laboratory operations and translational research across 16 laboratories on three continents, overseeing a team of over 1,200 professionals. My work at NeoGenomics was instrumental in launching large-scale cancer genomic profiling and bespoke minimal residual disease liquid biopsy tests, guiding a team of over 60 scientists. I introduced laboratory automation and operational efficiencies that improved turnaround times and enhanced patient outcomes.
Before joining NeoGenomics, I was Vice Chairman for Research and Chief Scientific Officer at Baylor Genetics, where I spearheaded precision medicine initiatives and cultivated impactful collaborations. At Washington University, I directed clinical genomics and molecular pathology, transforming and expanding the laboratory into a leading facility in the field.
Beyond my institutional roles, I have actively contributed to shaping best practices and guidelines in precision medicine through my involvement with organizations such as ClinGen, CLSI, CDC, FDA, and AMP. My research contributions include developing and launching innovative clinical omics-based tests and leading international precision medicine networks, such as the US-Japan Precision Medicine program. Additionally, I am the author of Clinical Genomics: A Guide to Next-Generation Sequencing, now in its second edition, and I previously served as editor-in-chief of the Cancer Genetics journal. My commitment to advancing precision medicine continues to impact oncology diagnostics and patient care worldwide.
Present Title & Affiliation
Primary Appointment
Deputy Division Head, Professor, Department of Pathology and Laboratory Medicine, Division of Pathology-Lab Medicine Div, The University of Texas MD Anderson Cancer Center, Houston, Texas
Dual/Joint/Adjunct Appointment
Deputy Division Head and Professor of Molecular Pathology and Cytogenetics, Department of Anatomic Pathology, The University of Texas MD Anderson Cancer Center, Houston, Texas
Education & Training
Degree-Granting Education
2021 | Quantic School of Business and Technology, Washington, District of Columbia, US, Executive MBA |
1998 | All India Institute of Medical Sciences, New Delhi, IN, Medical Genetics, Ph.D |
1992 | Sawai Man Singh Medical College, Jaipur, IN, Human Anatomy, M.S. (Medicine) |
1988 | Government College, Kota, IN, Biology and Life Sciences, B.Sc |
Postgraduate Training
2012-2014 | Clinical Fellow, Clinical Molecular Genetics, Washington University School of Medicine, St. Louis, Missouri |
2004-2006 | Clinical Fellow, Clinical Cytogenetics, Harvard Medical School, Boston, Massachusetts |
2004-2006 | Research Fellow, Developmental Genome Anatomy Project, Brigham & Women's Hospital, Harvard Medical School, Boston, Massachusetts |
2000-2004 | Research Associate, Hematology, Washington University School of Medicine, St. Louis, Missouri |
1997-2000 | Clinical Fellow, Clinical Cancer Genomics and Precision Medicine, Hammersmith Hospital, Imperial College, London |
Board Certifications
2015 | American Board of Medical Genetics and Genomics, Clinical Molecular Genetics and Genomics |
2007 | American Board of Medical Genetics, Clinical Cytogenetics and Genomics |
2007 | Fellow of American College of Medical Genetics |
2007 | New York State Department of Health CQ |
Experience & Service
Academic Appointments
Professor, Adjunct, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 2022 - 2024
Professor, Tenured, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 2016 - 2022
Chief Scientific Officer, Senior Vice President, Department of Baylor Genetics, Baylor College of Medicine, Miraca Holdings (Japan), Houston, Texas, 2016 - 2022
Vice Chairman, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 2016 - 2022
Professor, Department of Pathology & Immunology, Pediatrics, and Genetics, Washington University School of Medicine, St. Louis, Missouri, 2016 - 2016
Associate Professor, Department of Pediatrics, Genetics, and Genomic Medicine, Washington University School of Medicine, St. Louis, Missouri, 2011 - 2015
Associate Professor, Department of Pathology and Immunology, Laboratory and Genomic Medicine, Washington University School of Medicine, St. Louis, Missouri, 2011 - 2015
Assistant Professor, Department of Pathology and Immunology, Laboratory and Genomic Medicine, Washington University School of Medicine, St. Louis, Missouri, 2007 - 2010
Assistant Professor, Department of Pediatrics, Genetics, and Genomic Medicine, Washington University School of Medicine, St. Louis, Missouri, 2006 - 2010
Lecturer, Department of Medical Genetics and Human Cytogenetics, Washington University School of Medicine, St. Louis, Missouri, 2003 - 2003
Senior Demonstrator, Department of Anatomy, All India Institute of Medical Sciences, New Delhi, 1994 - 1997
Administrative Appointments/Responsibilities
Co-chairman, Cancer Variant Interpretation (NHGRI, NCI funded initiative), 2022 - Present
President & Chief Scientific Officer, Department of Pathology, Research & Development, Operations, NeoGenomics Laboratories, Fort Myers, Florida, 2022 - 2023
Chairman, Medical Genome Initiative, San Diego, California, 2020 - Present
Committee Member, Department of Continuing Professional Development (CPD) Committee/ Continuing Medical Education (CME) Committee, Baylor College of Medicine, Houston, Texas, 2020 - 2022
Committee Member, Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas, 2018 - 2022
Council Member, Department of Precision Medicine Advancement Council (PMAC), Baylor College of Medicine, Houston, Texas, 2017 - 2022
Board Member, Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas, 2016 - 2022
Co-chairman, ClinGen Somatic Clinical Group (NHGRI, NCI funded initiative), 2014 - 2022
Chief Laboratory Director, Department of Cytogenomics and Molecular Pathology, Washington University School of Medicine, St. Louis, Missouri, 2006 - 2016
Director, Department of Cytogenomics and Molecular Pathology, Washington University School of Medicine, St. Louis, Missouri, 2006 - 2016
Program Director, Department of Medical Genetics and Genomics, Washington University School of Medicine, St. Louis, Missouri, 2006 - 2016
Director, Department of Clinical Genomics Research Unit, Washington University School of Medicine, St. Louis, Missouri, 2006 - 2016
Institutional Committee Activities
Committee member, Breast Cancer Leadership Committee, 2010 - 2016
Committee member, Molecular Pathology Curriculum Subcommittee, 2008 - 2009
Committee member, Educational Committee, 2006 - 2016
Representative from the clinical departments, Executive Committee of the Faculty Council (ECFC), 2006 - 2016
Honors & Awards
2015 | Recognition of Outstanding Leadership and Service, Clinical and Laboratory Standards Institute |
2014 | Excellence In Partnership Award, Centers for Disease Control and Prevention, the Agency for Toxic Substances and Disease Registry of the United States Department of Health and Human Services |
1996 | Promotion of Science Visiting Fellowship Award, Indo-French Society Department of Immunogenetics, Pasteur Institute, Paris, France |
Selected Publications
Peer-Reviewed Articles
- Desrosiers, LR, Wang, T, Reuther, J, Miles, G, Dai, H, Jo, EJ, Russell, HV, Raesz-Martinez, R, Recinos, A, Gutierrez, S, Thomas, A, Berenson, E, Corredor, J, Nugent, KM, Wyatt Castillo, R, Althaus, R, Littlejohn, RO, Gessay, S, Tomlinson, GE, Gill, JB, Bernini, JC, Vallance, KL, Griffin, T, Scollon, SR, Lin, FY, Eng, CM, Kulkarni, S, Hilsenbeck, SG, Roy, A, McGuire, AL, Parsons, DW, Plon, SE. Comparing the Diagnostic Yield of Germline Exome Versus Panel Sequencing in the Diverse Population of the Texas KidsCanSeq Pediatric Cancer Study. JCO Precis Oncol 8, 2024. e-Pub 2024. PMID: 39259914.
- Huselton, E, Rettig, MP, Fletcher, TR, Ritchey, JK, Gehrs, L, McFarland, K, Christ, S, Eades, W, Trinkaus, K, Romee, R, Kulkarni, S, Ghobadi, A, Abboud, CN, Cashen, A, Stockerl-Goldstein, K, Uy, GL, Vij, R, Westervelt, P, DiPersio, JF, Schroeder, MA. A phase I trial evaluating the effects of plerixafor, G-CSF, and azacitidine for the treatment of myelodysplastic syndromes. Leukemia and Lymphoma 62(6):1441-1449, 2021. e-Pub 2021. PMID: 33467957.
- Agarwala A, Kulkarni S, Maddox T. The Association of Statin Therapy with Incident Diabetes: Evidence, Mechanisms, and Recommendations. ASCVD 20:50, 2018. e-Pub 2018.
- Madhavan S, Ritter D, Micheel C, Rao S, Roy A, Sonkin D, Mccoy M, Griffith M, Griffith OL, Mcgarvey P, Kulkarni S. Standardizing And Democratizing Access To Cancer Molecular Diagnostic Test Data From Patients To Drive Translational Research. Pac Symp Biocomput 23:247-258, 2018. e-Pub 2018. PMID: 29218886.
- Madhavan S, Ritter D, Micheel C, Rao S, Roy A, Sonkin D, Mccoy M, Griffith M, Griffith OL, Mcgarvey P, Kulkarni S. Standardizing And Democratizing Access To Cancer Molecular Diagnostic Test Data From Patients To Drive Translational Research. AMIA Jt Summits Transl Sci Proc:152-159, 2018. e-Pub 2018.
- Zhang B, Willing M, Grange DK, Shinawi M, Manwaring L, Vineyard M, Kulkarni S, Cottrell CE. Multigenerational autosomal dominant inheritance of 5p chromosomal deletions. Am J Med Genet 170(3):583-593, 2015. e-Pub 2015.
- Wu N, Ming X, Xiao J, Wu Z, Chen X, Shinawi M, Shen Y, Yu G, Liu J, Xie H, Gucev ZS, Liu S, Yang N, Al-Kateb H, Chen J, Zhang J, Hauser N, Tasic V, Liu P, Su X, Pan X, Liu C, Wang L, Shen J, Shen J, Chen Y, Zhang T, Zhang J, Choy KW, Wang J, Wang Q, Li S, Zhou W, Guo J, Wang Y, Zhang C, Zhao H, An Y, Zhao Y, Wang J, Liu Z, Zuo Y, Tian Y, Weng X, Sutton VR, Wang H, Ming Y, Kulkarni S, Zhong TP, Giampietro PF, Dunwoodie SL, Cheung SW, Zhang X, Jin L, Lupski JR, Qui G, Zhang F. TBX6 null variants and a common hypomorphic allele in congenital scoliosis. N Engl J Med 372(4):341-350, 2015. e-Pub 2015. PMID: 25564734.
- Perrino CM, Hucthagowder V, Evenson M, Kulkarni S, Humphrey PA. Genetic alterations in renal cell carcinoma with rhabdoid differentiation. Hum Pathol 46(1):9-16, 2015. e-Pub 2015. PMID: 25439741.
- Lyon E, Cockerill FR 3rd, Bale SJ, Beadling C, Bry L, Hagenkord J, Kulkarni S, Press R, Palomaki GE. Next generation sequencing in clinical diagnostics: experiences of early adopters. Clin Chem 61(1):41-49, 2014. e-Pub 2014. PMID: 25421800.
- Hagemann IS, Devarakonda S, Lockwood CM, Spencer DH, Guebert K, Bredemeyer AJ, Al-Kateb H, Nguyen TT, Duncavage EJ, Cottrell CE, Kulkarni S, Nagarajan R, Seibert K, Baggstrom M, Waqar SN, Pfeifer JD, Morgensztern D, Govindan R. Clinical next-generation sequencing in patients with non–small cell lung cancer. Cancer 121:631-639, 2014. e-Pub 2014.
- Ramos E, Bien-Willner G, Li J, Hughes A, Giacalone J, Chasnoff S, Kulkarni S, Parmacek M, Cole F, Druley T. Genetic variation in MKL2 and decreased downstream PCTAIRE1 expression in extreme, fatal primary human microcephaly. Clin Genet 85(5):423-432, 2014. e-Pub 2014. PMID: 23692340.
- Mullins CD, Su MY, Hucthagowder V, Chu L, Lu L, Kulkarni S, Novack D, Vij R, Tomasson MH. Germinal Center B-Cells Resist Transformation by Kras Independently of Tumor Suppressor Arf. PLoS One 8(6):e67941, 2013. e-Pub 2013.
- Ley TJ, Miller C, Ding L, Raphael BJ, Mungall AJ, Robertson A, Hoadley K, Triche Jr TJ, Laird PW, Baty JD, Fulton LL, Fulton R, Heath SE, Kalicki-Veizer J, Kandoth C, Klco JM, Koboldt DC, Kanchi K, Kulkarni S, Lamprecht TL, Larson DE, Lin L, Lu C, McLellan MD, McMichael JF, Payton J, Schmidt H, Spencer DH, Tomasson MH, Wallis JW, Wartman LD, Watson MA, Welch J, Wendl MC, Ally A, Balasundaram M, Birol I, Butterfield Y, Chiu R, Chu A, Chuah E, Chun H, Corbett R, Dhalla N, Guin R, He A, Hirst C, Hirst M, Holt RA, Jones S, Karsan A, Lee D, Li HI, Marra MA, Mayo M, Moore RA, Mungall K, Parker J, Pleasance E, Plettner P, Schein J, Stoll D, Swanson L, Tam A, Thiessen N, Varhol R, Wye N, Zhao Y, Gabriel S, Getz G, Sougnez C, Zou L, M Leiserson MD, Vandin F, Wu H, Applebaum F, Baylin SB, Akbani R, Broom BM, Chen K, Motter TC, Nguyen K, Weinstein JN, Zhang N, Ferguson ML, Adams C, Black A, Bowen J, Gastier-Foster J, Grossman T, Lichtenberg T, Wise L, Davidsen T, Demchok JA, Mills Shaw KR, Sheth M, Sofia HJ, Yang L, Downing JR, Eley G. Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia. N Engl J Med 368(22):2059-2074, 2013. e-Pub 2013. PMID: 23634996.
- Shastri P, Ramaswamy R, Narasimhan S, Rao S, Ubale S, Kulkarni S. Gender diversity in physics in India: Interventions so far and recommendations for the future. AIP Conf Proc 1517(1):106-107, 2013. e-Pub 2013.
- Kulkarni S, Bessler M. The effect of GPI-anchor deficiency on apoptosis in mice carrying a Piga gene mutation in hematopoietic cells. J Leukoc Biol 72(6):1228-1233, 2012. e-Pub 2012.
- Uy GL, Rettig MP, Motabi IH, McFarland K, Trinkaus KM, Hladnik LM, Kulkarni S, Abboud CN, Cashen AF, Stockerl-Goldstein KE, Vij R, Westervelt P, DiPersio JF. A phase 1/2 study of chemosensitization with the CXCR4 antagonist plerixafor in relapsed or refractory acute myeloid leukemia. Blood 119(17):3917-3924, 2012. e-Pub 2012.
- Klco JM, Kulkarni S, Kreisel FH, Nguyen TT, Hassan A, Frater JL. Immunohistochemical analysis of monocytic leukemias: usefulness of CD14 and Krüppel-like factor 4, a novel monocyte marker. Am J Clin Pathol 135(5):720-730, 2011. e-Pub 2011.
- Welch JS, Westervelt P, Ding L, Larson DE, Klco JM, Kulkarni S, Wallis J, Chen K, Payton JE, Fulton RS, Veizer J, Schmidt H, Vickery TL, Heath S, Watson MA, Tomasson MH, Link DC, Graubert TA, DiPersio JF, Mardis ER, Ley TJ, Wilson RK. Use of whole-genome sequencing to diagnose a cryptic fusion oncogene. J Am Med Assoc 305(15):1577-1584, 2011. e-Pub 2011.
- Mahowald GK, Baron JM, Mahowald MA, Kulkarni S, Bredemeyer AL, Bassing CH, Sleckman BP. Aberrantly resolved RAG-mediated DNA breaks in Atm-deficient lymphocytes target chromosomal breakpoints in cis. Proc Natl Acad Sci U S A 106(43):18339-18344, 2009. e-Pub 2009.
- Klco JM, Kreisel FH, Zehnbauer BA, Kulkarni S, Hassan A, Frater JL. The spectrum of adult B‐lymphoid leukemias with BCR‐ABL: molecular diagnostic, cytogenetic, and clinical laboratory perspectives. Am J Hematol 83(12):901-907, 2008. e-Pub 2008.
- Klco, JM, Kreisel, FH, Zehnbauer, BA, Kulkarni S, Hassan, A, Frater, JL. The spectrum of adult B-Lymphoid Leukemias with BCR-ABL; molecular diagnostic, cytogenetic, and clinical laboratory perspectives. Am J Hematol 83(12):901-907, 2008. e-Pub 2008. PMID: 18932238.
- Baxter E, Kulkarni S, Vizmanos J, Jaju R, Martinelli G, Testoni N, Hughes G, Salamanchuk Z, Calasanz MJ, Lahortiga I, Pocock CF, Dang R, Fidler C, Wainscoat JS, Boultwood J, Cross NC. Novel translocations that disrupt the platelet‐derived growth factor receptor β (PDGFRB) gene in BCR–ABL‐negative chronic myeloproliferative disorders. Br J Haematol 120(2):251-256, 2003. e-Pub 2003. PMID: 12542482.
- Bessler M, Kulkarni S, Jasinski M, Schaefer A, Keller P, Tremml G. Mice with Blood Cells Deficient in GPI-linked Proteins — The Generation of a Murine Model to Investigate the Pathogenesis and Pathophysiology of Paroxysmal Nocturnal Hemoglobinuria (PNH). Paroxysmal Nocturnal Hemoglobinuria and Related Disorders:27-39, 2003. e-Pub 2003.
- Texter F, Coyle J, Kulkarni S, Robinson C, Radford SE. Abolition of the fast track of lysozyme folding at neutral pH. FASEB J 11(9), 1997. e-Pub 1997.
- Baumgartner JE, Wheless JW, Kulkarni S, Northrup H, Au K, Smith A, Brookshire B. On the surgical treatment of refractory epilepsy in tuberous sclerosis complex. Pediatr Neurosurg 27(6):311-318, 1997. e-Pub 1997.
Other Articles
- Desrosiers-Battu LR, Lee JH, Tarasiewicz I, Gilbert AR, Galvan EM, Singh AK, Roy A, Miles G, Reuther J, Muzny DM, Yuan B, Kulkarni S, Eng C, Scollon S, Gessay S, McGuire AL, Parsons DW, Tomlinson GE, Plon SE, Shah S Anaplastic meningioma in a 6-year-old with somatic YAP1::MAML2 fusion and multiple endocrine neoplasia type 4 (MEN4) syndrome. Cancer Genet 292-293:106-110, 2025. PMID: 39985924.
- Wigby KM, Brockman D, Costain G, Hale C, Taylor SL, Belmont J, Bick D, Dimmock D, Fernback S, Greally J, Jobanputra V, Kulkarni S, Spiteri E, Taft RJ Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders. NPJ Genom Med 9(1):15, 2024. PMID: 38409289.
- Horak P, Griffith M, Danos AM, Pitel BA, Madhavan S, Liu X, Chow C, Williams H, Carmody L, Barrow-Liang L, Rieke D, Kreutzfeldt S, Stenzinger A, Tamborero D, Benary M, Rajagopal PS, Ida CM, Lesmana H, Satgunaseelan L, Merker JD, Tolstorukov MY, Campregher PV, Warner JL, Rao S, Natesan M, Shen H, Venstrom J, Roy S, Tao K, Kanagal-Shamanna R, Xu X, Ritter DI, Pagel K, Krysiak K, Dubuc A, Akkari YM, Li XS, Lee J, King I, Raca G, Wagner AH, Li MM, Plon SE, Kulkarni S, Griffith OL, Chakravarty D, Sonkin D Standards 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 Med 24(5):986-998, 2022. PMID: 35101336.
- Austin-Tse, C, Jobanputra, V, Perry, DL, Bick, DP, Taft, RJ, Venner, E, Gibbs, RA, Young, T, Barnett, S, Belmont, J, Boczek, N, Chowdhury, S, Ellsworth, KA, Guha, S, Kulkarni, S, Marcou, C, Meng, L, Murdock, DR, Rehman, AU, Spiteri, E, Thomas-Wilson, A, Kearney, H, Rehm, HL Best practices for the interpretation and reporting of clinical whole genome sequencing. NPJ Genom Med 7(1):27, 2022. PMID: 35395838.
- Hayeems RZ, Dimmock D, Bick D, Belmont JW, Green RC, Lanpher B, Jobanputra V, Mendoza R, Kulkarni S, Grove ME, Taylor SL, Ashley E Clinical utility of genomic sequencing: a measurement toolkit. NPJ Genom Med 5(1):56, 2020. PMID: 33319814.
- Marshall CR, Bick D, Belmont JW, Taylor SL, Ashley E, Dimmock D, Jobanputra V, Kearney HM, Kulkarni S, Rehm H The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic. Genome Med 12(1):48, 2020.
- Marshall CR, Chowdhury S, Taft RJ, Lebo MS, Buchan JG, Harrison SM, Rowsey R, Klee EW, Liu P, Worthey EA, Jobanputra V, Dimmock D, Kearney HM, Bick D, Kulkarni S, Taylor SL, Belmont JW, Stavropoulos DJ, Lennon NJ Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease. NPJ Genom Med 5(47), 2020. PMID: 33110627.
- Leone PE, Pérez-Villa A, Yumiceba V, Hernández MÁ, García-Cárdenas JM, Armendáriz-Castillo I, Guerrero S, Guevara-Ramírez P, López-Cortés A, Zambrano AK, García JL, Hernández JM, Paz-y-Miño C De Novo Duplication of Chromosome 9p in a Female Infant: Phenotype and Genotype Correlation. J Pediatr Genet 09(1):069-075, 2020.
- Evenson M, Cai C, Hucthagowder V, McNulty S, Neidich J, Kulkarni S, Dahiya S Utility of copy number variants in the classification of intracranial ependymoma. Cancer Genet 240:66-72, 2019. PMID: 31794935.
- Ritter DI, Rao S, Kulkarni S, Madhavan S, Offit K, Plon SE A case for expert curation: an overview of cancer curation in the Clinical Genome Resource (ClinGen). Cold Spring Harb Mol Case Stud 5(5):a004739, 2019. PMID: 31645350.
- Zhang J, Li J, Saucier JB, Feng Y, Jiang Y, Sinson J, McCombs AK, Schmitt ES, Peacock S, Chen S, Dai H, Ge X, Wang G, Shaw CA, Mei H, Breman A, Xia F, Yang Y, Purgason A, Pourpak A, Chen Z, Wang X, Wang Y, Kulkarni S, Choy KW, Wapner RJ, Van den Veyver IB, Beaudet A, Parmar S, Wong LJ, Eng CM Publisher Correction: Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA. Nat Med 25(4):701-702, 2019. PMID: 30787481.
- Zhang J, Li J, Saucier JB, Feng Y, Jiang Y, Sinson J, McCombs AK, Schmitt ES, Peacock S, Chen S, Dai H, Ge X, Wang G, Shaw CA, Mei H, Breman A, Xia F, Yang Y, Purgason A, Pourpak A, Chen Z, Wang X, Wang Y, Kulkani S, Choy KW, Wapner RJ, Van den Veyver IB, Beaudet A, Parmar S, Wong LJ, Eng CM Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA. Nat Med 25(3):439-447, 2019. PMID: 30692697.
- Sarkar I, Perumal K, Kulkarni S, Drube W Origin of electronic localization in metal-insulator transition of phase change materials. Appl Phys Lett 113(26), 2018.
- Rohanizadegan M, Kulkarni S Transformational role of liquid biopsy in diagnosis and treatment of cancer. Cancer Genet, 2018. PMID: 30553466.
- Danos AM, Ritter DI, Wagner AH, Krysiak K, Sonkin D, Micheel C, McCoy M, Rao S, Raca G, Boca SM, Roy A, Barnell EK, McMichael JF, Kiwala S, Coffman AC, Kujan L, Kulkarni S, Griffith M, Madhavan S, Griffith OL Adapting crowdsourced clinical cancer curation in CIViC to the ClinGen minimum variant level data community-driven standards. Hum Mutat 39(11):1721-1732, 2018. PMID: 30311370.
- Walsh MF, Ritter DI, Kesserwan C, Sonkin D, Chakravarty D, Chao E, Ghosh R, Kemel Y, Wu G, Lee K, Kulkarni S, Hedges D, Mandelker D, Ceyhan-Birsoy O, Luo M, Drazer M, Zhang L, Offit K, Plon SE Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes. Hum Mutat 39(11):1542-1552, 2018. PMID: 30311369.
- Huang KL, Mashl RJ, Wu Y, Ritter DI, Wang J, Oh C, Paczkowska M, Reynolds S, Wyczalkowski MA, Oak N, Scott AD, Krassowski M, Cherniack AD, Houlahan KE, Jayasinghe R, Wang LB, Zhou DC, Liu D, Cao S, Kim YW, Koire A, McMichael JF, Hucthagowder V, Kim TB, Hahn A, Wang C, McLellan MD, Al-Mulla F, Johnson KJ, Lichtarge O, Boutros PC, Raphael B, Lazar AJ, Zhang W, Wendl MC, Govindan R, Jain S, Wheeler D, Kulkarni S, Dipersio JF, Reimand J, Meric-Bernstam F, Chen K, Shmulevich I, Plon SE, Chen F, Ding L Pathogenic Germline Variants in 10,389 Adult Cancers. Cell 173(2):1-16, 2018. PMID: 29625052.
- Rosenbaum JN, Bloom R, Forys JT, Hiken J, Armstrong JR, Branson J, McNulty S, Velu PD, Pepin K, Abel H, Cottrell CE, Pfeifer JD, Kulkarni S, Govindan R, Konnick EQ, Lockwood CM, Duncavage EJ Genomic heterogeneity of ALK fusion breakpoints innon-small-cell lung cancer. Mod Pathol, 2018. PMID: 29327716.
- Li MM, Datto M, Duncavage EJ, Kulkarni S, Lindeman NI, Roy S, Tsimberidou AM, Vnencak-Jones CL, Wolff DJ, Younes A, Nikiforova MN Authors' Reply to the Letter to the Editor by Montgomery et al (Identification of Germline Variants in Tumor Genomic Sequencing Analysis. J Mol Diagn 20(1):125-126, 2018. PMID: 29249244.
- Khang J, Griffith M, Miller CA, Griffith OL, Spencer DH, Walker JR, Magrini V, McGrath SD, Ly A, Helton NM, Trissal M, Link DC, Dang HX, Larson DE, Kulkarni S, Cordes MG, Fronick CC, Fulton RS, Klco JM, Mardis ER, Ley TJ, Wilson RK, Maher CA Comprehensive discovery of noncoding RNAs in acute myeloid leukemia cell transcriptomes. Exp Hematol 55:19-33, 2017. PMID: 28760689.
- Li MM, Datto M, Duncavage EJ, Kulkarni S, Lindeman NL, Roy S, Tsimberidou AM, Vnencak-Jones CL, Wolff DJ, Younes A, Nikiforova MN Standards 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 Diagn 19(1):4-23, 2017. PMID: 27993330.
- Ritter DI, Roychowdhury S, Roy A, Rao S, Landrum MJ, Sonkin D, Shekar M, Davis CF, Hart RK, Micheel C, Weaver M, Van Allen EM, Parsons DW, McLeod HL, Watson MS, Plon SE, Kulkarni S, Madhavan S Somatic cancer variant curation and harmonization through consensus minimum variant level data. Genome Med 8(1):117, 2016. PMID: 27814769.
- Griffith M, Griffith OL, Krysiak K, Skidmore ZL, Christopher MJ, Klco JM, Ramu A, Lamprecht TL, Wagner AL, Campbell KM, Lesurf R, Hundal J, Zhang J, Spies NC, Ainscough BJ, Larson DE, Heath SE, Fronick C, O'Laughlin S, Fulton RS, Magrini V, McGrath S, Smith SM, Miller CA, Maher CA, Payton JE, Walker JR, Eldred JM, Walter MJ, Link DC, Graubert TA, Westervelt P, Kulkarni S, DiPersio JF, Mardis E, Wilson RK, Ley TJ Comprehensive genomic analysis reveals FLT3 activation and a therapeutic strategy for a patient with relapsed adult B-Lymphoblastic leukemia. Exp Hematol 44(7):603-613, 2016. PMID: 27181063.
- Zhang B, Willing M, Grange DK, Shinawi M, Manwaring L, Vineyard M, Kulkarni S, Cottrell CE Multigenerational autosomal dominat inheritance of 5p chromosomal deletions. Am J Med Genet A, 2015. PMID: 26601658.
- Griffith M, Miller C, Griffith O, Krysiak K, Skidmore Z, Ramy A, Walker J, Dang H, Trani L, Larson D, Demeter R, Wendle M, McMichael J, Austin R, Magrini V, McGrath S, Ly A, Kulkarni S, Cordes M, Fronick C, Fulton R, Maher C, Ding L, Klco J, Mardis E, Ley T, Wilson R Optimizing Cancer Genome Sequencing and Analysis. Cell Systems 1(3):210-323, 2015. PMID: 26645048.
- Klco J, Miller C, Griffith M, Petti A, Spencer D, Ketkar-Kulkarni S, Wartman L, Christopher M, Lamprecht T, Helton N, Duncavage E, Payton J, Baty J, Heath S, Griffith O, Shen D, Hundal J, Chang G, Fulton R, O'Laughlin, Fronick C, Magrini V, Demeter R, Larson D, Kulkarni S, Ozenberger B, Welch J, Walter M, Graubert T, Westervelt P, Radich J, Link D, Mardis E, DiPersio J, Wilson R, Ley T Association Between Mutation Clearance After Induction Therapy and Outcomes in Acute Myeloid Leukemia. JAMA 314(8):811-822, 2015. PMID: 26305651.
- Yarbrough CK, Bandt SK, Hurth K, Wambach JA, Rao R, Kulkarni S, White FV, Frater JL, Leonard JR Congenital Acute Myeloid Leukemia with Unique Translocation t(11;19)(q23:p12.3). Cureus 7(7):e289, 2015. PMID: 26244121.
- Gargis AS, Kalman L, Bick DP, Da Silva C, Dimmock DP, Funke BH, Gowrisankar S, Hedge MR, Kulkarni S, Mason CE, Nagarajan R, Voelkerding KV, Worthey EA, Aziz N, Barnes J, Bennett SF, Bisht H, Church DM, Dimitrova Z, Gargis SR, Hafez N, Hambuch T, Hyland FC, Luna RA, MacCannell D, Mann T, McCluskey MR, McDaniel TK, Ganova-Raeva LM, Rehm HL, Reid J, Campo DS, Resnick RB, Ridge PG, Salit ML, Skums P, Wond LJ, Zehnbauer BA, Zook JM, Lubin IM Good laboratory practice for clinical next-generation sequencing informatics pipelines. Nat Biotechnol 33(7):689-693, 2015. PMID: 26154004.
- Rehm HL, Berg JS, Brooks LD, Bustamante CD, Evans JP, Landrum MJ, Ledbetter DH, Maglott DR, Martin CL, Nussbaum RL, Plon SE, Ramos EM, Sherry ST, Watson MS, Kulkarni S Clingen--the Clinical Genome Resource. N Engl J Med 372(23):2235-2242, 2015. PMID: 26014595.
- Hagemann, IS, Devarakonda S, Lockwood CM, Spencer DH, Guebert K, Bredemeyer AJ, Al-Kateb H, Nguyen TT, Duncavage EJ, Cottrell CE, Kulkarni S, Nagarajan R, Seibert K, Baggstrom M, Waqar SN, Pfeifer JD, Morgensztern D, Govindan R Clinical next-generation sequencing in patients with non-small cell lung cancer. Cancer, 2014. PMID: 25345567.
- Al-Kateb H, Khanna G, Filges I, Hauser N, Grange DK, Shen J, Smyser CD, Kulkarni S, Shinawi M Scoliosis and vertebral anomalies: additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement. Am J Med Genet 164A(5):1118-1126, 2014. PMID: 24458548.
- Kulkarni S Editors Introduction to the Special Issue. Cancer Genet, 2013.
- Cottrell CE, Al-Kateb H, Bredemeyer AJ, Duncavage EJ, Spencer DH, Abel HJ, Lockwood CM, Hagemann IS, O'Guin SM, Burcea LC, Sawyer CS, Oschwald DM, Stratman JL, Sher DA, Johnson MR, Brown TJ, Cliften PF, George B, McIntosh LD, Shrivastava S, Nguyen TT, Payton JE, Watson MA, Crosby SD, Head RD, Mitra RD, Nagarajan R, Kulkarni S, Seibert K, Virgin HW 4th, Milbrandt J, Pfeifer JD Validation of a Next-Generation Sequencing Assay for Clinical Molecular Oncology. J Mol Diagn, 2013. PMID: 24211365.
- Euteneuer J, Carvalho CMB, Kulkarni S, Vineyard M, Grady R, Lupski JR, Shinawi M Molecular and phenotypic characterization of atypical Williams–Beuren syndrome. Clin Genet, 2013.
- Euteneuer J, Carvalho C, Kulkarni S, Vineyard M, Mark Grady R, Lupski J, Shinawi M Molecular and phenotypic characterization of atypical Williams-Beuren syndrome. Clin Genet, 2013. PMID: 24246242.
- Tang Z, Berlin D, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP A Dynamic Database of Microarray Characterized Cell Lines with Various Cytogenetic and Genomic Backgrounds. G3: Genes, Genomes, Genetics, 2013. PMID: 23665875.
- Perlman SJ, Kulkarni S, Manwaring L, Shinawi M Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions. Am J Med Genet A 161(4):711-716, 2013. PMID: 23494996.
- Sharma MK, Phillips J, Agarwal S, Wiggins WS, Shrivastava S, Koul SB, Bhattacharjee M, Houchins CD, Kalakota RR, George B, Meyer RR, Spencer DH, Lockwood CM, Nguyen TT, Duncavage EJ, Al-Kateb H, Cottrell CE, Godala S, Lokineni R, Sawant SM, Chatti V, Surampudi S, Sunkishala RR, Darbha R, Macharla S, Milbrandt JD, Virgin HW, Mitra RD, Head RD, Kulkarni S, Bredemeyer A, Pfeifer JD, Seibert K, Nagarajan R Clinical Genomicist Workstation. AMIA Summits Transl Sci Proc 18(2013):156-157, 2013. PMID: 24303327.
- Al-Kateb H, Shimony JS, Vineyard M, Manwaring L, Kulkarni S, Shinawi M NR2F1 haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay. Am J Med Genet A 161(2):377-381, 2013. PMID: 23300014.
- Spencer DH, Abel HJ, Lockwood CM, Payton JE, Szankasi P, Kelley TW, Kulkarni S, Pfeifer JD, Duncavage EJ Detection of FLT3 Internal Tandem Duplication in Targeted, Short-Read-Length, Next-Generation Sequencing Data. J Mol Diagn 15(1):81-93, 2013. PMID: 23159595.
- Mills KI, Anderson J, Levy PT, Cole FS, Silva JN, Kulkarni S, Shinawi M Duplication of 20p12.3 associated with familial Wolff-Parkinson-White syndrome. Am J Med Genet A 161A(1):137-144, 2012. PMID: 23239491.
- Gargis A, Kalman L, Berry M, Bick D, Dimmock D, Hambuch T, Lu F, Lyon E, Voelkerding K, Zehnbauer B, Agarwala R, Bennett S, Chen B, Chin E, Compton J, Das S, Farkas D, Ferber M, Funke B, Furtado M, Ganova-Raeva L, Geigenmuller, U, Gunselman S, Hegde M, Johnson P, Kasarskis A, Kulkarni S, Lenk T, Liu C, Manion M, Manolio T, Mardis E, Merker J, Rajeevan M, Reese M, Rehm H, Simen B, Yeakley J, Zook J, Lubin I Assuring the quality of next-generation sequencing in clinical laboratory practice. Nat Biotechnol 30(11):1033-1036, 2012. PMID: 23138292.
- Hucthagowder V, Meyer R, Mullins C, Nagarajan R, DiPersio JF, Vij R, Tomasson MH, Kulkarni S Resequencing analysis of the candidate tyrosine kinase and RAS pathway gene families in multiple myeloma. Cancer Genet 205(9):474-478, 2012.
- Welch JS, Ley TJ, Link DC, Miller CA, Larson DE, Koboldt DC, Wartman LD, Lamprecht TL, Liu F, Xia J, Kandoth C, Fulton RS, McLellan MD, Dooling DJ, Wallis JW, Chen K, Harris CC, Schmidt HK, Kalicki-Veizer JM, Lu C, Zhang Q, Lin L, O'Laughlin MD, McMichael JF, Delehaunty KD, Fulton LA, Magrini VJ, McGrath SD, Demeter RT, Vickery TL, Hundal J, Cook LL, Swift GW, Reed JP, Alldredge PA, Wylie TN, Walker JR, Watson MA, Heath SE, Shannon WD, Varghese N, Nagarajan R, Payton JE, Baty JD, Kulkarni S, Klco JM, Tomasson MH, Westervelt P, Walter MJ, Graubert TA, DiPersio JF, Ding L, Mardis ER, Wilson RK The origin and evolution of mutations in acute myeloid leukemia. Cell 150(2):264-278, 2012. PMID: 22817890.
- Uy GL, Rettig MP, Motabi IH, McFarland K, Trinkaus KM, Hladnik LM, Kulkarni S, Abboud CN, Cashen AF, Stockerl-Goldstein K, Vij R, Westervelt P, DiPersio JF A phase I/II study of chemosensitization with the CXCR4 antagonist plerixafor in relapsed or refractory acute myeloid leukemia. Blood 119(17):3917-3924, 2012. PMID: 22308295.
- Ding L, Ley TJ, Larson DE, Miller CA, Koboldt DA, Welch JS, Ritchey JK, Young MA, Lamprecht T, McLellan MD, McMichael JF, Wallis JW, Lu C, Shen D, Harris CC, Dooling DJ, Fulton RS, Fulton LL, Chen K, Schmidt H, Kalicki-Veizer J, Magrini VJ, Cook L, McGrath SD, Vickery TL, Wendl MC, Heath S, Watson MA, Link DC, Tomasson MH, Shannon WD, Payton JE, Kulkarni S, Westervelt P, Walter MJ, Graubert TA, Mardis ER, Wilson RK, DiPersio JF Clonal evolution in relapsed acute myeloid leukemia revealed by whole-genome sequencing. Nature 481(7382):506-510, 2012. PMID: 22237025.
- Cawich SO, Samuels L, Bambury I, Cherian CJ, Christie L, Kulkarni S Complete anal sphincter complex disruption from intercourse: A case report and literature review. Int J Surg Case Rep 3(11):565-568, 2012.
- Stankiewicz P, Kulkarni S, Dharmadhikari AV, Sampath S, Bhatt SS, Shaikh T, Xia Z, Pursley AN, Cooper LM, Shinawi M, Paciorkowski A, Grange DK, Noetzel M, Saunders S, Simons P, Summar M, Lee B, Scaglia F, Fellmann F, Martinet D, Beckmann JS, Asamoah A, Platky K, Sparks S, Martin AS, Madan-Khetarpal S, Hoover J, Medne L, Bonnemann CG, Moeschler JB, Vallee SE, Parikh S, Irwin P, Dalzell VP, Smith WE, Banks VC, Flannery DB, Lovell CM, Bellus GA, Golden-Grant K, Gorski J, Kussmann JL, McGregor TL, Hamid R, Pfotenhauer J, Ballif BC, Shaw CA, Kang S, Bacino CA, Patel A, Rosenfeld JA, Cheung S, Shaffer LG Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats. Human Mutation 33:165-179, 2012. PMID: 21948486.
- Paciorkowski, AR, Thio, LL, Rosenfeld, JA, Gajecka, M, Gurnett, CA, Kulkarni, S, Chung, WK, Marsh, ED, Gentile, M, Reggin, JD, Wheless, JW, Balasubramanian, S, Kumar, R, Christian, SL, Marini, C, Guerrini, R, Maltsev, N, Shaffer, LG, Dobyns, WB Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function. Eur J Hum Genet 19(12):1238-1245, 2011. PMID: 21694734.
- Kreisel, F, Kulkarni, S, Kerns, RT, Hassan, A, Deshmukh, H, Nagarajan, R, Frater, JL, Cashen, A High resolution array comparative genomic hybridization identifies copy number alterations in diffuse large B-cell lymphoma that predict response to immuno-chemotherapy. Journal of Molecular Diagnostics 204(3):129-137, 2011. PMID: 21504712.
- Klco, JM, Kulkarni, S, Kreisel, FH, Nguyen, TDT, Hassan, A, Frater, JL Immunohistochemical Analysis of Monocyctic Leukemias: Usefulness of CD14 and Kruppel-like Factor 4, a Novel Monocyte Marker. American Journal of Clinical Pathology 135(5):720-730, 2011. PMID: 21502426.
- Link, DC, Schuettpelz, LG, Shen, D, Wang, J, Walter, MJ, Kulkarni, S, Payton, JE, Ivanovich, J, Goodfellow, PJ, Le Beau, M, Koboldt, DC, Dooling, DJ, Fulton, RS, Bender, HF, Fulton, LL, Delehaunty, KD, Fronick, CC, Appelbaum, EL, Schmidt, H, Maupin, R, O'Laughlin, M, Chen, K, McLellan, MD, Varghese, N, Nagarajan, R, Graubert, TA, Ding, L, Ley, TJ, Zambetti, GP, Wilson, RK, Mardis, ER The identification of a novel TP53 germline mutation through whole genome sequencing of a patient with therapy-related AML. JAMA 305(15):1568-1576, 2011. PMID: 21505135.
- Welch, JS, Westervelt, P, Ding, L, Larson, DE, Klco, JM, Kulkarni, S, Wallis, J, Chen, K, Payton, JE, Fulton, RS, Veizer, J, Schmidt, H, Vickery, TL, Heath, S, Watson, MA, Tomasson, MH, Link, DC, Graubert, TA, DiPersio, JF, Mardis, ER, Ley, TJ, Wilson, RK Use of whole genome sequencing to diagnose a cryptic fusion oncogene. JAMA 305(15):1577-1584, 2011. PMID: 21505136.
- McDonald, S, Wilson, DB, Pumbo, E, Kulkarni, S, Mason, PJ, Else, T, Bessler, M, Ferko, IT, Shenoy, S Acquired monosomy 7 myelodysplastic syndrome in a child with clinical features suggestive of dyskeratosis congenita and IMAGe association. Pediatr Blood Cancer 54(1):154-157, 2010. PMID: 19760774.
- Martin, MG, Welch, J, UY, GL, Fehniger, TA, Kulkarni, S, Duncavage, EJ, Walter, MJ Limited engraftment of low-risk myelodyplastic syndrome cells in NOD/SCID gamma-C chain knockout mice. Leukemia 24:1662-1664, 2010. PMID: 20668474.
- Zhang, B, Chang, B, Fu, M, Huang, J, Kashyap, R, Salavaggione, E, Jain, S, Kulkarni, S, Deardorff, MA, Uzielli, MLG, Dorsett, D, Beebe, DC, Jay, PY, Heuckeroth, RO, Krantz, I, Milbrandt, J Dosage Effects of Cohesin Regulatory Factor PDS5 on Mammalian Development: Implications for Cohesinopathies. PLoS One 4(5):e5232, 2009. PMID: 19412548.
- Kulkarni S, Baron, JM, Mahowald, MA, Moon, C, Bassing, CH, Kulkarni S, Bredemeyer, A, Sleckman, BP Breakpoint target restrictions for aberrantly resolved DNA double stranded breaks in ATM-deficient lymphocytes. Proc Natl Acad Sci U S A 106(43):18339-18344, 2009. PMID: 19820166.
- Hamvas, A, Nogee, LM, Wegner, DJ, DePass,K, Christodoulou, J, Bennetts, B, McQuade, LR, Gray, PH, Deterding, RR, Carroll, TR, Kammesheidt, A, Kasch, LM, Kulkarni, S, Cole, FS Inherited surfactant deficiency due to uniparental disomy of rare mutations in the surfactant protein-B and ATP biding cassette, subfamily A, member 3 genes. J Pediatr 155(6):854-859.e1, 2009. PMID: 19647838.
- Hulick, PJ, Noonan, KM, Kulkarni, S, Donovan, DJ, Listewnik, M, Ihm, C, Stoler, JM, Weremowicz, S Cytogenetic and array-CGH characterization of a complex de novo rearrangement involving duplication and deletion of 9p and clinical findings in a 4-month-old female. Cytogenet Genome Res 126(3):305-312, 2009. PMID: 20068300.
- Saharia, A, Guittat, L, Crocker, S, Kulkarni S, Steffen, M, Stewart, S Flap Endonuclease-1 Contributes To Telomere Stability. Current Biology 18:496-500, 2008. PMID: 18394896.
- Higgins, AW, Alkuraya, FS, Bosco, AF, Brown, KK, Bruns, GA, Donovan, DJ, Eisenman, R, Fan, Y, Farra, CG, Ferguson, HL, Gusella, JF, Harris, DJ, Herrick SR, Kelly, C, Kim, HG, Kishikawa, S, Korf, BR, Kulkarni, S, Lally, E, Leach, NT, Lemyre, E, Lewis, J, Ligon, AH, Lu, W, Maas, RL, MacDonald, ME, Moore, SD, Peters, RE, Quade, BJ, Quintero-Rivera, F, Saadi, I, Shen, Y, Shendure, J, Williamson, RE, Morton. CC Characterization of Apparently Balanced Chromosomal Rearrangements from the Development Genome Anatomy Project. Am J of Hum Genet 82:712-722, 2008. PMID: 18319076.
- Kulkarni, S, Nagarajan, P, Wall, J, Donovan, D, Donell, RL, Ligon, AH, Venkatachalam, S, Quade, BJ Disruption of Chromodomain Helicase DNA Binding Protein 2 (CHD2) Causes Scoliosis. Am J Med Genet 146A(9):1117-1127, 2008. PMID: 18386809.
- Lu, W, van Eerde, AM, Fan, X, Quintero-Rivera, F, Kulkarni, S, Ferguson, H, Kim, H, Sanlaville, D, Andrews, W, Sundaresan, V, Bi, W, Yan, J, Giltay, JC, Wijmenga, C, de Jong, TP, Feather, S, Woolf, AS, Rao, Y, Lupski, J, Quade, BJ, Gusella, JF, Morton, CC, Maas, R Disruption of ROBO2 is associated with congenital anomalies of the kidney and urinary tract and confers risk of vesicoureteral reflux. Am J Hum Genet 80(4):616-6312, 2007. PMID: 17357069.
- How, GF, Kulkarni, S, Tan, LT, Cross, NCP Two patients with novel BCR/ABL fusion transcripts (e8/a2 and e13a2) resulting from translocation breakpoints within BCR exons. British Journal of Haematology 105:434-436, 2005. PMID: 10233416.
- Knudson, M, Kulkarni, S, Ballas, K, Bessler, M, Goldman, F Association of immune abnormalities with telomere shortening in autosomal-dominant dyskeratosis congenita. Blood 105:682-688, 2005. PMID: 15238429.
- Goldman, F, Bouharich, R, Kulkarni, S, Freeman, S, Du, HY, Harrington, L, Mason, PJ, Londono-Vallejo, A, Bessler, M The effect of TERC haploinsufficiency on the inheritance of telomere length. Proc Natl Acad Sci U S A 102(47):17119-17124, 2005. PMID: 16284252.
- Mochizuki, Y, He, J, Kulkarni S, Bessler, M, Mason, PJ Mouse dyskerin mutations affecting mTERC levels, telomerase activity and ribosomal RNA processing. Proc Natl Acad Sci U S A 101(29):10756-10761, 2004. PMID: 15240872.
- Kulkarni S, Bessler, M Effect of proinflammatory cytokines on PIGA-hematopoiesis. Experimental Hematology 31(9):770-778, 2003. PMID: 12962722.
- Kulkarni, S, Bessler, M The effect of GPI-linked deficiency on apoptosis in mice carrying a Piga gena in hematopoietic cells. Journal of Leukocyte Biology 72(6):1228-1233, 2002. PMID: 12488505.
- Kulkarni S, Heath C, Parker S, Chase A, Iqbal S, Pocock CF, Kaeda J, Cwynarski K, Goldman JM, Cross NC Fusion of H4/D10S170 to the platelet-derived growth factor receptor β in BCR-ABL-negative myeloproliferative disorders with at (5; 10)(q33; q21). Cancer Res 60(13):3592-3598, 2000. PMID: 10910073.
- Grand F, Kulkarni S, Chase A, Goldman JM, Gordon M, Cross NC Frequent deletion of hSNF5/INI1, a component of the SWI/SNF complex, in chronic myeloid leukemia. Cancer Res 59(16):3870-3874, 1999.
- Kulkarni S, Reiter, A, Smedley, D, Goldman, JM, Cross, NCP The genomic structure of ZNF198 and location of breakpoints in the t(8;13) myeloproliferative syndrome. Genomics 55:118-121, 1999. PMID: 9889006.
- Kulkarni S, Parker S, Pocock C, Cwynarski K, Goldman JM, Cross NCP Fusion of H4/D10S170 to the PDGF-beta receptor in a patient with BCR-ABL negative myeloprolyferative disorder and a t (5; 10)(q33; q21). ASH, 1999.
- Kulkarni S, Grand, F, Chase, A, Goldman, JM, Gordon, M, Cross, NCP Frequent deletion of hSNF5/INI-1, a component of SWI/SNF Complex, in chronic myeloid leukemia. Cancer Res 59:3870-3874, 1999. PMID: 10463572.
- Kulkarni S, Ammini AC, Kucheria K Marker chromosome in a Turner patient. Indian J Hum Genet 1(2):123-126, 1995.
- Adams, R C, Aul, E F, Kulkarni, S, McAllister, R A, Margerum, S In-process control of nitrogen and sulfur in entrained-bed gasifers. Final report, 1986.
Editorials
- Kulkarni S. Next Generation Sequencing in Clinical Cancer Genomics Introduction. Cancer Genet 206(12):407-408, 2013.
Abstracts
- Ritter D, Sonkin D, Griffith M, Griffith O, Pavlick D, Saliba J, Seifi M, Raca G, Rosenbaum J, Roy S, Wagner A, Kulkarni S, Li M, Plon SE. ClinGen Cancer Variant Interpretation (CVI). Cancer Genet 286-287(1):S22, 2024. e-Pub 2024.
- J Chu, R Schell, F Wu, M Krawczyk, D Whang, S Jung, H Nam, KB Thomas, FJ Lopez-Diaz, V Funari, JA Mayer, S Kulkarni, J Guo, SP Lau-Rivera. A single stranded DNA library preparation workflow used for hybridization capture-based WES assay showed superior uniformity. In: Proceedings of the 115th Annual Meeting of the American Association for Cancer Research. e-Pub 2024.
- McLennan G, Quencer K, Dolmatch B, Kennedy R, McClure T, Vingan H, Arslan B, Werder G, Krishnasamy V, Le T, Meisinger Q, Muller R, Field D, Haddad M, Kumari D, Kulkarni S, Nguyen Q, Achakzai B, Sharma P, Chintalapudi U, Brown E. Distribution of Interventional Radiology Expertise with Management of Primary Aldosteronism–Related Hypertension. J Vasc Interv Radiol 35(3 Supplement):S129, 2024. e-Pub 2024.
- Ritter D, Duncavage E, Elvin J, Frampton G, Pavlick D, Griffith O, Griffith M, Janeway K, Lively T, Macconaill L, McCoy M, Meric-Bernstam F, Merker J, Mullighan CG, Parsons D, Patel K, Raca G, Ramos E, Rosenbaum J, Roy S, Kulkarni S. ClinGen Cancer Variant Interpretation (CVI) Committee. Cancer Genet 278–279(Supplement 1):5-6, 2023. e-Pub 2023.
- Krawczyk M, Duong C, Zelinger L, Ye F, Nam H, Thomas B, Funari V, Kulkarni S, Lopez-Diaz F. Landscape of known and novel myeloid neoplasia fusions identified by a multimodal comprehensive genomic profiling test in 789 patients. Cancer Res 83(7 Supplement):1401, 2023. e-Pub 2023.
- Zelinger L, Koo S, Ko C, Alarcon F, Thomas KB, Jung SC, Lopez Diaz FJ, Ye F, Kulkarni S. Single-tube NGS profiling allows identification of molecular signature in ALL patients. Cancer Res 83(7 Supplement):219, 2023. e-Pub 2023.
- Magnan CN, Nam H, Kulkarni S, Jung SC. Bridging the gap between targeted NGS and FISH gene-level CNV detection capabilities in hematologic malignancies. Cancel Research 83(7_Supplement):4294, 2023. e-Pub 2023.
- Zelinger L, Ko C, Alarcon F, Koo S, Thomas K, Nam H, Diaz FL, Jung S, Ye F, Kulkarni S. NGS assay for simultaneous screening of DNA and RNA provides a comprehensive solution guiding clinical management of ALL patients. GIM Open 1(1 Supplement), 2023. e-Pub 2023.
- King I, Saliba J, Danos A, Gonzalez A, Baumann B, Walko C, McMullin E, Toruner G, Ruggeri J, Hosseini SA, Bui K, Pryzbylski A, Roychowdhury S, Kulkarni S, Griffith OL, Griffith M, Selvarajah S. ClinGen Somatic Cancer expert curation panel for FGFR genes in Genitourinary Cancer. Cancer Genet 268-269(Supplement 1):5-6, 2022. e-Pub 2022.
- Saliba J, Raca G, Roy A, King I, Selvarajah S, Xu X, Kanagal-Shamanna R, Satgunaseelan L, Meredith D, Mullighan C, Krysiak K, Evans MG, Akkari Y, Terraf P, Church AJ, Kovach A, Williams H, Lin W, Kesserwan C, Ritter DI, Danos A, Reshmi SC, Li MM, Sonkin D, Berg JS, Plon SE, Rehm HL, Wagner AH, Kulkarni S, Govindan R, Griffith OL, Griffith M, Working Group CS. Reimagining and enhancing the Clinical Genome Resource (ClinGen) Somatic Cancer Clinical Domain Working Group. Cancer Genet 268-269(Supplement 1):8, 2022. e-Pub 2022.
- Ritter D, Duncavage E, Elvin J, Garrett F, Griffith OL, Griffith M, Janeway K, MacConaill L, McCoy M, Meric-Bernstam F, Merker J, Mullighan C, Parsons D, Patel K, Raca G, Ramos E, Rosenbaum J, Roy S, Roy A, Sonkin D, Kulkarni S. ClinGen Somatic Cancer Variant Interpretation (CVI) committee and the Somatic Cancer expert panel process. Cancer Genet 268-269(Supplement 1):36, 2022. e-Pub 2022.
- Zelinger L, Koo S, Alarcon F, Ko C, Thomas BB, Jung SC, Wang Y, Ye F, Kulkarni S. Single Tube Molecular Profiling of ALL Samples Reveals Integrated Molecular Signature and Highlights Gene Regulatory Networks. Blood 140(Supplement):11870-11871, 2022. e-Pub 2022.
- Austin-Tse C, Jobanputra V, Perry D, Bick D, Taft R, Venner E, Gibbs R, Young T, Barnett S, Belmont J, Boczek N, Chowdhury S, Ellsworth K, Guha S, Kulkarni S, Marcou C, Meng L, Murdock D, Rehman A, Spiteri E, Thomas-Wilson A, Kearney H, Rehm H. Best practices for the interpretation and reporting of clinical genome sequencing. Genet Med 24(3, Supplement):S365-S366, 2022. e-Pub 2022.
- Williams H, Krysiak K, Lin W, Roy A, Church A, Saliba J, Rao S, Ritter D, Danos A, Corson L, Fisher K, Hiemenz M, Janeway KA, Ji J, Kesserwan C, Laetsch T, Parsons D, Schmidt R, Sund K, Terraf P, Xu X, Kanagal-Shamana R, Dyer L, Harris M, Lee K, Wagner A, Akkari Y, Satgunaseelan L, Griffith M, Griffith O, Kulkarni S, Schriml L, Jean J, Madhavan S, Raca G. Genetic variants associated with childhood cancers: Curation initiatives of the ClinGen Somatic Cancer Pediatric Taskforce. Genet Med 24(3, Supplement):S41-S42, 2022. e-Pub 2022.
- Rao S, Saliba J, Zhao X, He R, Kesserwan C, Danos A, Sheta L, Terraf P, Raca G, Williams H, Blombery P, Viswanatha D, Eno C, Mani C, Jiang N, Vavra KC, Zhang L, Shi Z, Li P, Li Y, Ouseph MM, Thompson E, Zhong Y, Krysiak K, Wagner AH, McCoy M, Matthew MT, Deeb K, Zhang F, Liu J, Shao X, Ferrer A, Kopp N, Zhang W, Pondugula S, Fakim YJ, Wu D, Pullarkat ST, Kulkarni S, Madhavan S, Xu X, Kanagal-Shamana R. Crowdsourcing expert curation of somatic variants by the ClinGen Somatic Hematologic Cancer Taskforce. Cancer Genet 206-261(Supplement 1):16, 2022. e-Pub 2022.
- Shao X, Rao S, Mani C, Saliba J, He R, Kesserwan C, Danos A, Sheta L, Terraf P, Raca G, Williams H, Blombery P, Viswanatha DS, Eno C, Jiang N, Vavra KC, Zhang L, Shi Z, Li P, Li Y, Ouseph MM, Thompson ER, Zhong Y, Krysiak K, Wagner A, McCoy M, Matthew MT, Deeb K, Zhang F, Liu J, Zhao X, Ferrer A, Kopp N, Zhang W, Pondugula S, Fakim YJ, Wu D, Pullarkat ST, Kulkarni S, Madhavan S, Griffith OL, Griffith M, Kanagal-Shamanna R, Xu X. Expert Curation of Somatic FLT3 Variants By the Clingen Somatic Hematologic Cancer Taskforce (ClinGen HCT). Blood 138(Supplement):4387, 2021. e-Pub 2021.
- Danos A, Lin W, Saliba J, Roy A, Church AJ, Rao S, Ritter D, Krysiak K, Wagner A, Barnell E, Sheta L, Coffman A, Kiwala S, McMichael JF, Corson L, Fisher K, Williams HE, Hiemenz M, Janeway KA, Ji J, Chimene KA, Fuqua L, Dyer L, Xu H, Jean J, Satgunaseelan L, Zhang L, Laetsch TW, Parsons DW, Schmidt R, Schriml LM, Sund KL, Kulkarni S, Madhavan S, Xu X, Kanagal-Shamana R, Harris M, Akkari Y, Yacov NP, Terraf P, Griffith M, Griffith OL, Raca G. Advancing knowledgebase representation of pediatric cancer variants through ClinGen/CIViC collaboration. Cancer Res 81(13 Supplement):210, 2021. e-Pub 2021.
- Scollon S, Plon SE, Joffe S, Biegel JA, Kulkarni S, Miles G, Patton D, Coffey B, Williams PM, Tsongalis GJ, Routbort MJ, Gastier-Foster JM, Saguilig L, Piao J, Alonzo TA, Janeway KA, Adamson PC, Mooney M, Tricoli JV, Seibel NL, Parsons DW. Germline cancer predisposition results from the National Cancer Institute - Children's Oncology Group (NCI-COG) Pediatric MATCH Trial. Cancer Res 81(13 Supplement):631, 2021. e-Pub 2021.
- Kulkarni S, Scollon S, Littlejohn R, Nugent K, Althaus R, Corredor J, Berenson E, Wyatt R, Griffin T, Vallance K, Gill J, Tomlinson G, Bernini JC, Roy A, Miles G, Reuther J, Kulkarni S, En C, McGuire A, Parsons D, Plon S. Germline findings based on patient phenotype of the Texas KidsCanSeq cohort: an interim analysis. Cancer Genet 132(Supplement 1):S46, 2021. e-Pub 2021.
- Rao S, Mani C, Saliba J, Danos A, Williams H, Shi Z, Li P, Li Y, Raca G, Terraf P, Thompson E, Zhong Y, He R, Krysiak K, Wagner A, McCoy M, Deeb K, Zhang F, Viswanatha D, Blombery P, Wu D, Kulkarni S, Madhavan S, Kanagal-Shamana R, Xu X. Curation of FLT3 Variants in Acute Myeloid Leukemia by Clinical Genome Resource Somatic Hematologic Cancer Taskforce. J Mol Diagn 22(11):S23-S23, 2020. e-Pub 2020.
- McCoy M, Rao S, Cosgrove S, Madhavan S, Kulkarni S, Xu X, Kanagal-Shamanna R. Expert Variant Curation Combined with in-Silico analysis for Clinical Interpretation of BCL2 variants in Resistance to BCL2 Inhibitors in Chronic Lymphocytic Leukemia/ Small Lymphocytic Lymphoma. Blood 136(Supplement 1):42-43, 2020. e-Pub 2020.
- Kanagal-Shamanna R, Rao S, Terraf P, Raca G, Saliba J, Danos A, Mani C, Williams H, Jiang N, Vavra KC, Zhang L, Shi Z, Li P, Li Y, Ouseph MM, Thompson ER, Zhong Y, Hinceman N, He R, Krysiak K, Wagner A, McCoy M, Matthew MT, Deeb K, Zhang F, Liu J, Viswanatha DS, Blombery P, Wu D, Kulkarni S, Madhavan S, Xu X. Expert Curation of Somatic Variants in Hematological Malignancies By the Clingen Somatic Hematological Cancer Taskforce (ClinGen HCT). Blood 136(Supplement 1):23, 2020. e-Pub 2020.
- Horak P, Griffith M, Danos A, Pitel BA, Madhavan S, Liu X, Lee J, Raca G, Li S, Wagner AH, Kulkarni S, Griffith OL, Chakravarty D, Sonkin D. A standard operating procedure for the interpretation of oncogenicity/pathogenicity of somatic mutations. Cancer Res 80(16 Supplement):5707, 2020. e-Pub 2020.
- Rao S, Ritter D, Danos A, Raca G, Roy A, Krysiak K, Lin W, Barnell E, McCoy M, Pitel B, Sonkin D, Wang J, Hosseini SA, Selvarajah S, King I, Kanagal-Shamana R, Xu X, Warner JL, Meric-Bernstam F, Merker JD, Li M, Wagner AH, Griffith M, Griffith OL, Kulkarni S, Madhavan S. ClinGen somatic cancer working group: Disseminating standardized cancer molecular diagnostic data and evidence through global collaboration and expert curation. Cancer Res 80(16 Supplement):3215, 2020. e-Pub 2020.
- Church AJ, Rao S, Ritter D, Danos A, Krysiak K, Corson LB, Fisher KE, Hiemenz M, Janeway KA, Ji J, Kesserwan CA, Laetsch TW, Parsons DW, Schmidt RJ, Sund KL, Lin W, Griffith M, Griffith OL, Kulkarni S, Madhavan S, Roy A, Raca G. Curation of Pediatric cancer variants within the Clinical Genome Resource (ClinGen). Cancer Res 80(14 Supplement):A58, 2020. e-Pub 2020.
- Rao S, Ritter D, Danos A, Raca G, Roy A, Krysiak K, Lin W, Barnell E, McCoy M, Pitel B, Sonkin D, Wang J, Hosseini SA, Selvarajah S, King I, Kanagal-Shamana R, Xu X, Warner J, Meric-Bernstam F, Merker JD, Li M, Wagner AH, Griffith M, Griffith OL, Berg JS, Kulkarni S, Madhavan S. ClinGen somatic cancer working group: Enhancing standardized interpretation of cancer genetic data for clinical use. Cancer Genet 244(Supplement 1):17-18, 2020. e-Pub 2020.
- Lin WH, Roy A, Church A, Rao S, Ritter D, Danos A, Kulkarni S, Madhavan S, Xu X, Kanagal-Shamana R, Dyer L, Harris M, Akkari Y, Paz-Yaacov N, Terraf P, Raca G. Curation of genetic variants in childhood cancers within the Clinical Genome Resource (ClinGen). Cancer Genetics 244:11-12, 2020. e-Pub 2020.
- Williams HE, Roy A, Rao S, Ritter D, Danos A, Krysiak K, Church AJ, Corson L, Fisher KE, Hiemenz M, Janeway KA, Ji J, Kesserwan CA, Laetsch TW, Parsons DW, Schmidt R, Sund KL, Lin W, Griffith M, Griffith OL, Kulkarni S, Madhavan S, Raca G. Pediatric Cancer Taskforce Variant Curation within the Clinical Genome Resource (ClinGen). J Mol Diagn 22(5):S102-S103, 2020. e-Pub 2020.
- Raca G, Rao S, Ritter D, Danos A, Krysiak K, Church AJ, Corson L, Fisher K, Hiemenz M, Janeway KA, Ji J, Kesserwan CA, Laetsch TW, Parsons DW, Schmidt R, Sund KL, Griffith M, Griffith O, Kulkarni S, Madhavan S, Roy A. Curation of variants associated with pediatric tumors within the Clinical Genome Resource (ClinGen). Cancer Genet 233-234(Supplement 1):S14, 2019. e-Pub 2019.
- Raca G, Ritter D, Micheel C, Sonkin D, McCoy M, McGarvey P, Rao S, Li M, Griffith M, Griffith O, Roy A, Kulkarni S, Madhavan S. 21. Cancer curation in the clinical genome resource (on behalf of the ClinGen Somatic Working Group). Cancer Genet 226-227:44, 2018. e-Pub 2018.
- Henthorn K, Schroeder A, Osato D, Borillo G, Le P, Mohamed N, VanSickle R, Moberly J, Hoeft C, Wong K, Kulkarni S, Thornberg A, Freeman-Cook L. Rapid Detection of Respiratory Pathogens with GenMark's ePlex RP Panel. J Mol Diagn 19(6):980-980, 2017. e-Pub 2017.
- Schroeder AR, Osato D, Henthorn K, Moberly J, Wong K, Mohamed N, Hoeft C, Vansickle R, Safavi A, Borillo G, Kulkarni S, Le P, Freeman-Cook L. Characterization of GenMark ePlex Respiratory Pathogen Panel and Comparison to BioFire FilmArray RP Panel. J Mol Diagn 18(6):984-985, 2016. e-Pub 2016.
- Rosenbaum JN, Branson J, Cottrell C E, Pfeifer JD, Kulkarni S, Duncavage EJ. Next Generation Sequencing Reveals Genomic Heterogenity of ALK Fushion Breakpoints in Non-Small Cell Lung Cancer. Lab Invest 96:481A-482A, 2016. e-Pub 2016.
- Klco JM, Miller CA, Griffith M, Petti A, Spencer DH, Ketkar-Kulkarni S, Wartman LD, Christopher M, Lamprecht TL, Payton JE, Baty J, Heath SE, Griffith OL, Shen D, Hundal J, Chang GS, Fulton RS, O'laughlin M, Fronick C, Magrini V, Demeter R, Larson DE, Kulkarni S, Ozenberger BA, Welch JS, Walker MJ, Graubert TA, Westervelt P, Radich JP, Link DC, Mardis ER, DiPersio JF, Wilson RK. Genomic approaches for risk assessment in acute myeloid leukemia. Cancer Res 75(22 Supplement 1):PR11, 2015. e-Pub 2015.
- Ungewickell A, Bhanduri A, Rios E, Reuter J, Lee C, Mah A, Zehnder A, Ohgami R, Kulkarni S, Armstrong R, Weng W, Gratzinger D, Tavallaee M, Rook A, Snyder M, Kim Y, Khavari P. Genomic analysis of mycosis fungoides and Sezary syndrome identifies recurrent alterations in TNFR2. Nat Genet 47(9):1056–1060, 2015. e-Pub 2015. PMID: 26258847.
- Lincoln S, Funke B, Zook J, Kulkarni S, Browser M, Watson D, Aradhya S, Yang S, Monzon F, Rehm H. To Confirm or Not Confirm, That is the Question: A Rigorous Approach to Evaluating the Importance of Sanger Confirmation of NGS Findings. J Mol Diagn:753, 2015. e-Pub 2015.
- Cai C, Hucthagowder V, Gutmann DH, Kulkarni S, Dahiya S. Whole Genome SNP Array Analysis of Ependymoma and Anaplastic Ependymoma. Nature 94:434A-434A, 2014. e-Pub 2014.
- Schroeder MA, Grillot M, Reineck T, Jacoby MA, Romee R, Pusic I, Welch J, Uy GL, Cashen AF, Stockerl-Goldstein KE, Vij R, Kulkarni S, Westervelt P, Walter MJ, Dipersio JF. Plerixafor, G-CSF and Azacitidine For The Treatment Of MDS: Results Of a Phase I Trial. Blood 122(21):2816, 2013. e-Pub 2013.
- Church D, Funke B, Hegde M, Chao C, Trow J, Slotta D, Halavi M, Meric PA, Ananiev V, Frishberg D, Rubinstein W, Silva C, Gowrisankar S, Ajay S, Chapman B, Compton J, Dames S, Das S, Feng Y, Hambuch T, Kulkarni S, Mao R, O'Fallon BD, Shrivastava S, Toji L, Zhang V, Zook J, Kalman L. Development of Consensus Reference Material Tools for Clinical Next-Generation Sequencing Tests. J Mol Diagn 15(6):847-847, 2013. e-Pub 2013.
- Al-Kateb H, Hageman I, Cottrell CE, Lockwood C, Nguyen T, Duncavage EJ, Spencer D, Bredemeyer A, Cox T, Hussaini M, Head R, Shrivastava S, Nagarajan R, Seibert K, Kulkarni S, Pfeifer J. Spectrum of Actionable Variants Identified by Clinical Targeted Next- Generation Sequencing in Cancer. J Mol Diagn 15(6):906, 2013. e-Pub 2013.
- Hussaini MO, Hagemann IS, Cox TM, Lockwood C, Seibert K, Kulkarni S, Pfeifer J, Duncavage EJ. Performance of next-generation sequencing for detection of clinically actionable genetic variants in cancer. J Clin Oncol 31(15 Supplement):11099-11099, 2013. e-Pub 2013.
- Hagemann IS, Al-Kateb H, Cottrell CE, Lockwood C, Nguyen T, Spencer D, Bredemeyer A, Head R, Varghese N, Nagarajan R, Seibert K, Duncavage EJ, Kulkarni S, Pfeifer JD. Diagnostic yield of targeted next-generation sequencing for personalized cancer therapeutics. Cancer Res 73(8 Supplement):813-813, 2013. e-Pub 2013.
- Nielsen T, McDonald S, Kulkarni S, Storhoff J, Schaper C, Wallden B, Ferree S, Liu S, Hucthagowder V, Deschryver K, Holtschlag V, Barry G, Evenson M, Dowidar N, Maysuria M, Gao D. Analytical reproducibility of the breast cancer intrinsic subtyping test and ncounter analysis system using formalin-fixed paraffin-embedded (FFPE) breast tumor specimens. Lab Invest 93:498A, 2013. e-Pub 2013.
- Hagemann IS, Al-Kateb H, Cottrell CE, Lockwood CM, Nguyen TT, Spencer DH, Bredemeyer AJ, Head RD, Shrivastava S, Varghese N, Nagarajan R, Seibert K, Duncavage EJ, Kulkarni S, Pfeifer JD. Spectrum of non-synonymous mutations in cancer identified by clinical targeted next-generation sequencing. Lab Invest 93:435A-435A, 2013. e-Pub 2013.
- Hucthagowder V, Fiala M, Cox D, Stockerl-Goldstein KE, Tomasson MH, DiPersio JF, Vij R, Kulkarni S. Genome-Wide Copy Number Analyses Correlated with Outcomes in Untreated Multiple Myeloma Patients. Blood 120(21):3991, 2012. e-Pub 2012.
- Tomasson MH, Shen D, Hucthagowder V, Schierding W, Mullins CD, Fiala M, Hall IM, Wallis J, Fulton RS, Fulton LA, Kulkarni S, Mardis ER, Wilson RK, Ley TJ, DiPersio JF, Maher CA, Vij R, Ding L. Whole Genome Sequencing Reveals Novel Recurring Somatic Mutations Affecting HUWE1 and DIAPH2 Genes in Multiple Myeloma. Blood 120(21):320, 2012. e-Pub 2012.
- Mullins CD, Su MY, Hucthagowder V, Chu L, Lu L, Kulkarni S, Vij R, Tomasson MH. Activation of K-Ras in Arf-null mice is not sufficient for malignant transformation of post-germinal center B-cells. Blood 120(21):5016-5016, 2012. e-Pub 2012.
- Al-Kateb H, Cottrell CE, Duncavage EJ, Nguyen TT, Lockwood C, Spenser D, Bredemeyer A, Head RD, Nagarajan R, Pfeifer J, Seibert K, Govindan R, Kulkarni S. Clinical Next-Generation Sequencing for the Identification of Somatic Mutations in Cancer. J Mol Diagn 14(6):710-710, 2012. e-Pub 2012.
- Abel H, Cottrell C, AlKateb H, Kulkarni S, Duncavage EJ. dentification of Recurrent Somatic Translocations from Multiplexed Capture-Enriched Next Generation Sequencing of Genomic DNA. J Mol Diagn 14(6):746-746, 2012. e-Pub 2012.
- Hucthagowder V, Liu T, Paciorkowski AR, Thio LL, Keller MS, Anderson CD, Herman T, Dehner LP, Grange DK, Kulkarni S. Chromosome 2p15p16. 1 microdeletion syndrome: 2.5 Mb deletion in a patient with renal anomalies, intractable seizures and a choledochal cyst. Eur J Med Genet 55(8-9):485-489, 2012. e-Pub 2012.
- Duncavage E, Spencer D, Abel H, Kulkarni S, Seibert K, Nagarajan R, Mitra R, Watson M, Pfeifer J. A Target Capture Based Next Generation Sequencing Panel for Identification of Reurrent Somatic Mutations in Cancer. Lab Invest 92:452A-452A, 2012. e-Pub 2012.
- Spencer DH, Duncavage E, Mitra RD, Kulkarni S, Seibert K, Nagarajan R, Watson MA, Pfeifer JD. A Comparison of Targeted Next Generation Sequencing from Paired Formalin-Fixed and Fresh Frozen Specimens. Lab Invest 92:457A-457A, 2012. e-Pub 2012.
- Hucthagowder V, Shaik J, Fiala M, Paasch J, Nagarajan R, Stockerl-Goldstein KE, DiPersio JF, Tomasson MH, Vij R, Kulkarni S. Genomic Landscape of Immunoglobulin Light Chain (AL) Amyloidosis and Comparative Analyses with Related Malignant Plasma Cell Disorder-Multiple Myeloma. Blood 118(21):809, 2011. e-Pub 2011.
- Kulkarni S, Elliott N, Fiala M, Paasch J, Tomasson MH, Stockerl-Goldstein KE, DiPersio JF, Geiss G, Vij R, Hucthagowder V. High Throughput Digital Quantification of Genomic Copy Number Alterations in Multiple Myeloma. Blood 118(21):1830, 2011. e-Pub 2011.
- Klco JM, Welch JS, Evenson M, Payton JE, Westervelt P, Frater JL, Ley TJ, Kulkarni S. Cryptic Insertional PML-RARA Translocations. Lab Invest 91:305A-305A, 2011. e-Pub 2011.
- Robinson CN, Balentine CJ, Marshall CL, Orcutt ST, Solnick R, Kulkarni S, Rahman U, Anaya DA, Artinyan A, Awad SS, Albo D, Berger DH. Socioeconomic Status Does Not Influence Stage Of Presentation For Colorectal Cancer. J Surg Res 165(2):198-199, 2011. e-Pub 2011.
- Uy GL, Rettig MP, McFarland K, Hladnik L, Kulkarni S, Abboud CN, Cashen AF, Stockerl-Goldstein K, Vij R, Westervelt P, DiPersio JF. A Phase I/II Study of Chemosensitization with the CXCR4 Antagonist Plerixafor in Relapsed or Refractory AML. Blood 114(22):787, 2010. e-Pub 2010.
- Mullins CD, Tomasson M, Lu L, Su MY, Hutchagowder V, Vij R, Kulkarni S, Chu L. Germinal Center Specific Activation of K-Ras, Common In Multiple Myeloma, Is Selected Against and Is Not Sufficient to Initiate Plasma Cell Transformation In Mice. Blood 116(21):137-137, 2010. e-Pub 2010.
- Schuettpelz L, Link DC, Shen D, Walter MJ, Koboldt DC, Dooling DJ, Fulton RS, Schmidt H, Maupin R, O'Laughlin M, Chen K, McLellan MD, Kulkarni S, Ivanovich J, Lebeau M, Varghese N, Nagarajan R, Ding L, Graubert TA, Ley TJ, Wilson RK, Mardis ER. DNA Sequence of the Cancer Genome of a Patient with Therapy-Related Acute Myeloid Leukemia. Blood 116(21):580, 2010. e-Pub 2010.
- Welch JS, Ding L, Chen K, Larson DE, Kulkarni S, Payton JE, Wallis J, Veizer J, McLellan MD, Vickery TL, Reed JP, Koboldt DC, Klco J, DiPersio JF, Mardis ER, Ley TJ, Wilson RK, Westervelt P. Resolution of a Clinical Dilemma with Whole Genome Sequencing, and Discovery of a New Mechanism for Generating PML-Rara: Insertional Fusion. Blood 116(21):2755-2755, 2010. e-Pub 2010.
- Hucthagowder V, Mullins CD, Meyer R, Nagarajan R, DiPersio JF, Vij R, Tomasson MH, Kulkarni S. Resequencing Analysis of the Human Candidate Ras and Receptor Tyrosine Kinase Gene Family In Multiple Myeloma. Blood 116(21):301-301, 2010. e-Pub 2010.
- Kim D, Kulkarni S, Haviernik P, Ramachandran S, Eder P. Analytical Performance of HPV DNA Extraction by Prototype QIAensemble (TM) SP. J Mol Diagn 12(6):891-891, 2010. e-Pub 2010.
- Kreisel F, Kulkarni S, Kerns R, Deshmukh H, Nagarajan R, Hassan A, Frater J, Cashen A. Array Comparative Genomic Hybridization (aCGH) Identifies Genetic Changes Exclusive to Chemotherapy-Refractory or Chemotherapy-Responsive Diffuse Large B-Cell Lymphomas. Lab Invest 90:307A-307A, 2010. e-Pub 2010.
- Paciorkowski AR, Gurnett C, Kulkarni S, Dobyns WB. Infantile Spasms Registry & Genetic Studies: Preliminary Report on EEG Data and Power Analysis of Sample Size. Ann Neurol 68(4):S131-S131, 2010. e-Pub 2010.
- Uy GL, Rettig MP, McFarland KM, Hladnik LM, Kulkarni S, Abboud CN, Cashen AF, Stockerl-Goldstein K, Vij R, Westervelt P, DiPersio JF. Mobilization and chemosensitization of AML with the CXCR4 antagonist Plerixafor (AMD3100): a phase I/II study of AMD3100+ MEC in patients with relapsed or refractory disease. Blood 112(11):1944-1944, 2008. e-Pub 2008.
- Frater JL, Kreisel FE, Zehnbauer B, Hassan A, Kulkarni S. B-lymphoid leukemias with BCR-ABL: Molecular diagnostic, cytogeneltic, and clinical laboratory perspectives. Lab Invest 88(253A-253A), 2008. e-Pub 2008.
- Bahler DW, Szankasi P, Kulkarni S, Tubbs RR, Cook JR, Swerdlow SH. Marginal zone B-cell lymphomas of the ocular adnexa express similar immunoglobulin VH genes. Lab Invest 88:245A-246A, 2008. e-Pub 2008.
- Simon A, Wang YY, Feng Y, Miller J, Jones B, Kulkarni S, Kaldor S, Chapple-Sokol J, McGahay V. Temperature control and Ta/Cu interface quality in advanced Cu BEOL. AMC 2005:429-435, 2006. e-Pub 2006.
- Bessler M, Bouharich R, Kulkarni S, Freeman S, Du H, Mason PJ, Londono-Vallejo A, Goldman F. Accelerated Shortening of Long Telomeres and Accumulation of Short Telomeres in Dyskeratosis Congenita. Blood 106(11):1053-1053, 2005. e-Pub 2005.
- Rao S, Kulkarni S. Effect of Trichoderma Spp. on the Growth of Sclerotium rolfsii Sacc. J Biol Control 17(2):181-184, 2003. e-Pub 2003.
- Wilson DB, Park JR, Andritsos L, Kulkarni S, Savage SA, Chanock SJ, Shannon KM, Monica B. Monosomy 7 myelodysplastic-myeloproliferative syndrome in an infant with a germline mutation in the primer alignment region of the telomerase RNA (TERC) gene. Blood 102(11):425A-425A, 2003. e-Pub 2003.
- Goldman FD, Bessler M, Dokal I, Knudson MJ, Kulkarni S. Immune abnormalities in autosomal dominant dyskeratosis congenita: The effect of telomere length on lymphocyte cell cycle and apoptosis. Blood 102(11):530A-530A, 2003. e-Pub 2003.
- Kawar NM, Ivanovich J, Rothbaum RJ, Kulkarni S, Whelan A, Goodfellow P, Wilson DB, Bessler M. Human telomerase RNA mutations in patients with bone marrow failure. Blood 100(11):232A-233A, 2002. e-Pub 2002.
- Kulkarni S, Bessler M. The effect of pro-inflammatory cytokines on PIGA (-) hematopoiesis. Blood 100(11):229A-229A, 2002. e-Pub 2002.
- Kulkarni S, Bessler M. The effect of GPI-anchor deficiency on apoptosis in mice carrying a PIGA gene mutation in hematopoietic cells. Blood 98(11):748A-749A, 2001. e-Pub 2001.
- Kulkarni S, Reiter A, Smedley D, Goldman JM, Cross NCP. Genomic structure of the ZNF198 gene and location of breakpoints in the t (8; 13) myeloproliferative syndrome. Blood 92(10):427A-427A, 1998. e-Pub 1998.
- Reiter A, Sohal J, Kulkarni S, Chase A, Macdonald D, Aguiar RCT, Goncalves C, Hernandez JM, Jennings B, Goldman JM, Cross NCP. Consistent fusion of a novel gene, DET, to the fibroblast growth factor receptor-1 in the t (8; 13)(p11; q12). Br J Haematol 101:105-105, 1998. e-Pub 1998.
- Reiter, A, Kulkarni, S, Chase, A, Macdonald, DHC, Aguiar, RCT, Goncalves, C, Hernandez, JM, Jennings, BA, Goldman, JM, Cross, NCP. Consistent fusion of ZNF198 to the fibroblast growth factor receptor-1 in the t(8;13) (p11;q12) myeloproliferative syndrome. Blood 92(5):1735-1742, 1998. e-Pub 1998. PMID: 9716603.
- Jobanputra V, Kulkarni S, Sivakumaran TA, Ammini AC, Kucheria K. Cytogenetic studies in reproductive disorders. Cytogenet Cell Genet 77(1-2):P235-P235, 1997. e-Pub 1997.
- Schell R, Lau-Rivera S, Chu J, Wu F, Krawczyk M, Lopez-Diaz, Kulkarni S. A Novel Lab-Developed Test Simultaneously Assays Heme and Solid Tumors and Shows Good Performance on Degraded Samples at Low Minimum Input. Journal of Molecular Diagnostics 25(11):S120-S120.
- Krawczyk M, Duong C, Zelinger L, Ye F, Nam H, Thomas B, Funari V, Kulkarni S, Lopez-Diaz. Landscape of known and novel myeloid neoplasia fusions identified by a multimodal comprehensive genomic profiling test in 789 patients. Cancer Research 83:1401.
Book Chapters
- Kulkarni S, Pfeiffer J. Emerging DNA Sequencing Technologies. In: Clinical Genomics: A Guide to Clinical Next Generation Sequencing. Elsevier Science, 2014.
- Kulkarni S, Pfeifer J. Clinical Genomics: A Guide to Clinical Next Generation Sequencing. In: Clinical Genomics: A Guide to Clinical Next Generation Sequencing. Elsevier Science, 2014.
- Kulkarni S, Ketkar S. RNA-Sequencing and Methylome Analysis. In: Clinical Genomics: A Guide to Clinical Next Generation Sequencing. Elsevier Science, 2014.
- Kulkarni S. Clinical Cytogenomics and Molecular Pathology. In: The Washington Manual of Surgical Pathology. Lippincott Williams and Wilkins, 2012.
- Kulkarni S, Pfeiffer J. Cytogenetics. In: The Washington Manual of Surgical Pathology. First. Lippincott Williams and Wilkins, 2008.
- Bessler M, Kulkarni S, Jasinski M, Schaefer A, Keller P, Tremml G. Mice with blood cells deficient in GPI-linked proteins - The generation of murine model to investigate the pathogenesis and pathophysiology of Paroxysmal Nocturnal Hemoglobinuria (PNH). In: Paroxysmal Nocturnal Hemoglobinuria (PNH) and Related Disorders. Springer Verlag Publications, 27-41, 2003.
Books (edited and written)
- Kulkarni S, Roy S. Clinical Genomics. Ed(s) First. Elsevier Science, 2014.
Letters to the Editor
- Martin MG, Welch JS, Uy GL, Fehniger TA, Kulkarni S, Duncavage EJ, Walter MJ. Limited engraftment of low-risk myelodysplastic syndrome cells in NOD/SCID gamma-C chain knockout mice. Leukemia 24: 1662-1664, 2010.
Selected Presentations & Talks
Local Presentations
- 2017. Evening Seminar Series. Invited. Houston, Texas, US.
- 2017. Head Neck Cancer Genomics Seminar Series. Invited. Houston, Texas, US.
- 2017. Omics. Invited. Omics Workshop. Houston, Texas, US.
- 2017. Genomic Medicine and it's Impact on Precision Oncology. Invited. Grand Rounds. Houston, Texas, US.
- 2014. Genomics, Precision Medicine & Cancer, Advances in Diagnosis and Treatment of Hematologic Malignancies. Invited. CME Seminar. St. Louis, Missouri, US.
- 2014. Iron Overload. Invited. Iron Overload Seminar. St. Louis, Missouri, US.
- 2010. Novartis Oncology Preceptorship. Invited. Eric P Newman Center. St. Louis, Missouri, US.
- 2009. Novartis Oncology Preceptorship. Invited. Eric P Newman Center. St. Louis, Missouri, US.
- 2009. Medical Genomics. Invited. Eric P Newman Center. St. Louis, Missouri, US.
- 2008. Novartis Oncology Preceptorship. Invited. Division of Oncology. St. Louis, Missouri, US.
- 2007. Medical Genetics Lecture Series. Invited. St. Louis, Missouri, US.
Regional Presentations
- 2018. Invited Speaker. Invited. Seminar at Molecular Tumor Board Meeting. Dallas, Texas, US.
National Presentations
- 2024. Current State of Molecular Pathology-The Future is Here. Invited. Grand Rounds. Rochester, Minnosota, US.
- 2023. Key Learnings from Executing Integrated Diagnostic Strategies in Large Reference Laboratories. Invited. Department of Pathology, Center for Integrative Diagnostics. Boston, Massachusetts, US.
- 2021. Multi-Institutional Efforts to Create and Implement Best Practice Guidelines for Utility of Whole-Genome Sequencing for Improving Diagnostic Yield in Germline Genetic Disorders. Invited. Medical Genome Initiative GA4GH Connect 2021, US.
- 2021. Moving Whole-Genome Sequencing for Rate Diagnosis to the Clinic. Panelist, US.
- 2019. Invited Speaker. Invited. Denver, Colorado, US.
- 2019. Non-invasive Prenatal Sequencing for Multiple Mendelian Monogenic Disorders using Circulating Cell-free Fetal DNA. Invited. Association of Molecular Pathology Annual Meeting and Expo. Baltimore, Maryland, US.
- 2019. Invited Speaker. Invited. Scientific Advisory Board. Anaheim, California, US.
- 2019. Clinical Rounds. Invited. Bremerton, Washington, US.
- 2019. Pathology Department Seminar. Invited. Colorado Springs, Colorado, US.
- 2018. Weighing the Evidence: Variant Classification & Interpretation in Precision Oncology. Panelist. FDA Panel. Silver Springs, Maryland, US.
- 2017. Department of Pathology and Cell Biology Grand Rounds. Invited. Grand Rounds. New York, New York, US.
- 2017. Curating the Clinical Genome. Invited. Curating the Clinical Genome 2017 Meeting. Washington, District of Columbia, US.
- 2017. Visiting Professorship. Visiting. Memphis, Tennessee, US.
- 2016. Geisinger Autism and Developmental Medicine. Invited. Grand Rounds. Danville, Pennsylvania, US.
- 2016. Next Generation Sequencing-based Oncology Panels. Panelist. FDA Workshop. Silver Springs, Maryland, US.
- 2015. Use of Databases for Establishing the Clinical Relevance of Human Genetic Variants. Panelist. U.S. Food and Drug Administration Workshop. Silver Springs, Maryland, US.
- 2015. Department of Pathology Grand Rounds. Invited. Grand Rounds. Boston, Massachusetts, US.
- 2015. A Blueprint for Drug/Diagnostic Co-Development: Genetic Databases. Panelist. Washington, District of Columbia, US.
- 2015. Cancer Somatic ClinGen Efforts. Invited. Sixth Annual Cancer Genomics Consortium Meeting. Denver, Colorado, US.
- 2015. Department of Molecular and Human Genetics Grand Rounds. Invited. Grand Rounds. Houston, Texas, US.
- 2015. The Utility of Next-Generation Sequencing Assays Across the Continuum of Clinical Care (short course). Invited. American College of Medical Genetics and Genomics Annual Meeting. Salt Lake City, Utah, US.
- 2015. Advances in Understanding Cancer Genomes through Clinical Next-Generation Sequencing. Invited. San Francisco, California, US.
- 2014. Return of incidental findings in cancer in the genomic era. Invited. International Collaboration for Clinical Genomics Conference. Bethesda, Maryland, US.
- 2014. Pathology Research Seminar Series. Invited. Charlottesville, Virginia, US.
- 2014. Invited Speaker. Panelist. Washington, District of Columbia, US.
- 2014. Visiting Professorship. Visiting. Tucson, Arizona, US.
- 2013. Department of Human Genetics Grand Rounds. Invited. Atlanta, Georgia, US.
- 2013. Cancer Cytogenomics. Invited. Chicago, Illinois, US.
- 2013. Invited Expert. Invited. P13K Pathologist Advisory Board Meeting. Novartis, New Jersey, US.
- 2013. Invited Expert. Invited. Bethesda, Maryland, US.
- 2013. Invited Speaker. Invited. Think Tank Summit. Chicago, Illinois, US.
- 2013. Invited Speaker. Invited. NGS Translate World Forum. Boston, Massachusetts, US.
- 2013. Molecular Pathology NGS CPT (Current Procedural Terminology) Editorial Panel. Invited. Chicago, Illinois, US.
- 2013. Invited Speaker. Invited. Washington, District of Columbia, US.
- 2013. Invited Speaker. Invited. Grand Rounds. Rochester, New York, US.
- 2013. Molecular Medicine. Invited. Molecular Medicine Tri-Con. San Francisco, California, US.
- 2012. Plenary Speaker. Invited. American Molecular Pathology (AMP) Annual Meeting. Long Beach, California, US.
- 2012. Invited Speaker. Invited. Omics Evolution Summit. Boston, Massachusetts, US.
- 2012. Invited Speaker. Invited. 2012 ISCA Consortium Conference. Bethesda, Maryland, US.
- 2012. Next-Generation DNA Sequencing as a Tool for Clinical Decision-making in Cancer Patient Management. Invited. Cancer Patient Management Workshop. Bethesda, Maryland, US.
- 2012. CMA Short Course. Invited. Annual Clinical Genetics Meeting. Charlotte, North Carolina, US.
- 2012. Invited Speaker. Invited. Grand Rounds. Minneapolis, Minnesota, US.
- 2012. Molecular Med Tri-Con. Invited. San Francisco, California, US.
- 2011. Illumina Next-Generation Sequencing Workshop. Invited. American Molecular Pathology (AMP) Meeting. Dallas, Texas, US.
- 2011. Genetic Testing Reference Material. Invited. 7th Genetic Testing Reference Material Program at CDC (GeTRM) Expert panel meeting, American Molecular Pathology (AMP) meeting. Dallas, Texas, US.
- 2011. Pathology. Visiting. Pathology Grand Rounds. Gainesville, Florida, US.
- 2011. Innovations in Molecular, Cytogenetic and flow cytometry technologies. Invited. New Orleans, Louisiana, US.
- 2011. National Workgroup of Implementation of Next Generation Sequencing into Clinical Practice. Panelist. Atlanta, Georgia, US.
- 2011. Clinical Laboratory Improvement. Panelist. Atlanta, Georgia, US.
- 2011. Cytogenomic Arrays. Invited. First Annual ISCA Consortium Conference. Atlanta, Georgia, US.
- 2010. Genetic Testing Reference Material. Invited. The 6th Annual Genetic Testing Reference Material Program at CDC (GeT-RM) Meeting. San Jose, California, US.
- 2010. Affymetrix Seminar. Invited. American Society of Human Genetics Meeting 2010. Washington, District of Columbia, US.
- 2010. Multi-Institutional Collaborative Effort for Establishing Reference Material for Chromosomal Microarrays. Invited. Chicago, IL, US.
- 2009. Invited Speaker. Invited. Salt Lake City, Utah, US.
- 2007. Invited Lecture. Invited. Chicago, IL, US.
International Presentations
- 2019. Implementation of Precision Medicine National Program in Largest Non-Profit Healthcare System in United States. Invited. Australia's Biotechnology Organization Meeting. Melbourne, AU.
- 2019. Non-Invasive Prenatal Screening. Invited. Beijing, CN.
- 2018. Genomic Medicine updates: From Rare Diseases to Oncology. Invited. 2nd BCM-CUHK-Fudan Joint Symposium in Clinical Genetics and Birth Defects, HK.
- 2018. Baylor College of Medicine Research Updates. Invited. Baylor College of Medicine and Fudan University Joint Research Meeting, HK.
- 2018. Clinical Cancer Genomics and Personalized Medicine. Invited. Tokyo, JP.
- 2017. Mulit-Omic Testing in Precision Oncology. Invited. Grand Rounds. Nagoya, JP.
- 2017. Cancer Genomics: New Revolution in Precision Medicine. Invited. Tokyo, JP.
- 2015. A Clinical Perspective, Cancer Genomics Program. Invited. Second Annual Applied Cancer Genomics. Toronto, CA.
- 2014. Visiting Professorship. Visiting. Grenada, GD.
- 2013. Visiting Professorship. Visiting. Grenada, GD.
- 2012. Clinical Genetics. Invited. Slovak Society of Medical Genetics, Slovak Medical Association, St. Elizabeth Cancer Institute 23rd Izakovic Memorial. Bratislava, SK.
- 2012. Molecular Pathology of Solid Tumors: Cancer Profiling for Targeted Treatment Prediction. Invited. Uppsala Municipality, SE.
- 2011. Affymetrix Cytogenomics. Invited. Affymetrix Cytogenomics Symposia. Montreal, CA.
- 2009. Molecular Pathology Essentials Review Course. Invited. AMP-AACC Molecular Pathology Essentials Course. Copenhagen, DK.
- 2009. Cytogenetics. Invited. Seventh European Cytogenetics Conference. Stockholm, SE.
Patient Reviews
CV information above last modified March 21, 2025