S. Kulkarni

发表

Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia.

Benjamin J. Raphael, Joshua F. McMichael, Mark D. M. Leiserson, 2013, The New England journal of medicine.

Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project.

J. Shendure, M. MacDonald, S. Kulkarni, 2008, American journal of human genetics.

TBX6 null variants and a common hypomorphic allele in congenital scoliosis.

J. Lupski, S. Cheung, Yang Zhao, 2015, The New England journal of medicine.

Clinical utility of genomic sequencing: a measurement toolkit

V. Jobanputra, R. Green, E. Ashley, 2020, npj Genomic Medicine.

Clonal evolution in relapsed acute myeloid leukemia revealed by whole genome sequencing

Joshua F. McMichael, Christopher A. Miller, Joelle M. Kalicki-Veizer, 2011, Nature.

Optimizing cancer genome sequencing and analysis.

Joshua F. McMichael, Christopher A. Miller, R. Wilson, 2015, Cell systems.

RNA-Sequencing and Methylome Analysis

S. Kulkarni, S. Ketkar, Shamika Ketkar, 2015 .

Pathogenic Germline Variants in 10,389 Adult Cancers.

Steven J. M. Jones, Benjamin J. Raphael, Joshua F. McMichael, 2018, Cell.

The Origin and Evolution of Mutations in Acute Myeloid Leukemia

Joshua F. McMichael, Christopher A. Miller, Joelle M. Kalicki-Veizer, 2012, Cell.

Association of immune abnormalities with telomere shortening in autosomal-dominant dyskeratosis congenita.

S. Kulkarni, Z. Ballas, M. Knudson, 2005, Blood.

Use of whole-genome sequencing to diagnose a cryptic fusion oncogene.

Ken Chen, Li Ding, Mark A Watson, 2011, JAMA.

Validation of a next-generation sequencing assay for clinical molecular oncology.

Savita Shrivastava, Rakesh Nagarajan, John D Pfeifer, 2014, The Journal of molecular diagnostics : JMD.

Optimizing cancer genome sequencing and analysis.

Obi L. Griffith, Li Ding, Malachi Griffith, 2015, Cell systems.

Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low‐copy repeats

Stephanie E. Vallee, J. Rosenfeld, L. Shaffer, 2012, Human mutation.

A Dynamic Database of Microarray-Characterized Cell Lines with Various Cytogenetic and Genomic Backgrounds

N. Gerry, S. Kulkarni, C. Martin, 2013, G3: Genes, Genomes, Genetics.

Molecular and phenotypic characterization of atypical Williams–Beuren syndrome

Joshua C. Euteneuer, J. Lupski, S. Kulkarni, 2014, Clinical genetics.

Identification of a novel TP53 cancer susceptibility mutation through whole-genome sequencing of a patient with therapy-related AML.

Li Ding, Rakesh Nagarajan, Ken Chen, 2011, JAMA.

Duplication of 20p12.3 associated with familial Wolff–Parkinson–White syndrome

S. Kulkarni, M. Shinawi, F. S. Cole, 2013, American journal of medical genetics. Part A.

Next generation sequencing in clinical diagnostics: experiences of early adopters.

S. Kulkarni, S. Bale, E. Lyon, 2015, Clinical Chemistry.

Utility of copy number variants in the classification of intracranial ependymoma.

Samantha N. McNulty, S. Kulkarni, S. Dahiya, 2019, Cancer genetics.

NR2F1 haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay

J. Shimony, S. Kulkarni, M. Shinawi, 2013, American journal of medical genetics. Part A.

Congenital Acute Myeloid Leukemia with Unique Translocation t(11;19)(q23;p13.3)

S. Kulkarni, S. Bandt, J. Frater, 2015, Cureus.

A case for expert curation: an overview of cancer curation in the Clinical Genome Resource (ClinGen)

K. Offit, S. Kulkarni, S. Plon, 2019, Cold Spring Harbor molecular case studies.

The effect of TERC haploinsufficiency on the inheritance of telomere length.

S. Kulkarni, S. Freeman, A. Londoño-Vallejo, 2005, Proceedings of the National Academy of Sciences of the United States of America.

Correction: Dosage Effects of Cohesin Regulatory Factor PDS5 on Mammalian Development: Implications for Cohesinopathies

I. Krantz, D. Dorsett, S. Kulkarni, 2009, PLoS ONE.

Disruption of chromodomain helicase DNA binding protein 2 (CHD2) causes scoliosis

S. Kulkarni, A. Ligon, D. J. Donovan, 2008, American journal of medical genetics. Part A.

Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux.

J. Lupski, C. Wijmenga, S. Kulkarni, 2007, American journal of human genetics.

Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genes.

S. Kulkarni, A. Hamvas, J. Christodoulou, 2009, The Journal of pediatrics.

Fusion of H4/D10S170 to the platelet-derived growth factor receptor beta in BCR-ABL-negative myeloproliferative disorders with a t(5;10)(q33;q21).

S. Kulkarni, J. Goldman, A. Chase, 2000, Cancer research.

Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function

J. Rosenfeld, W. Chung, L. Shaffer, 2011, European Journal of Human Genetics.

Effect of proinflammatory cytokines on PIGA- hematopoiesis.

S. Kulkarni, M. Bessler, 2003, Experimental hematology.

The spectrum of adult B‐lymphoid leukemias with BCR‐ABL: Molecular diagnostic, cytogenetic, and clinical laboratory perspectives

J. Klco, S. Kulkarni, B. Zehnbauer, 2008, American journal of hematology.

A phase I trial evaluating the effects of plerixafor, G-CSF, and azacitidine for the treatment of myelodysplastic syndromes

R. Vij, S. Kulkarni, K. Trinkaus, 2021, Leukemia & lymphoma.

A phase 1/2 study of chemosensitization with the CXCR4 antagonist plerixafor in relapsed or refractory acute myeloid leukemia.

R. Vij, S. Kulkarni, K. Trinkaus, 2012, Blood.

Acquired monosomy 7 myelodysplastic syndrome in a child with clinical features suggestive of dyskeratosis congenita and IMAGe association

S. Kulkarni, T. Ferkol, David B. Wilson, 2010, Pediatric blood & cancer.

plerixafor in relapsed or refractory acute myeloid leukemia A phase I/II study of chemosensitization with the CXCR4 antagonist

S. Kulkarni, K. Trinkaus, P. Westervelt, 2012 .

A phase 1 / 2 study of chemosensitization with the CXCR 4 antagonist plerixafor in relapsed or refractory acute myeloid leukemia

R. Vij, S. Kulkarni, K. Trinkaus, 2012 .

The effect of GPI‐anchor deficiency on apoptosis in mice carrying a Piga gene mutation in hematopoietic cells

S. Kulkarni, M. Bessler, 2002, Journal of leukocyte biology.

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)

S. Kulkarni, A. Schaefer, M. Bessler, 2003 .

Novel translocations that disrupt the platelet‐derived growth factor receptor β (PDGFRB) gene in BCR–ABL‐negative chronic myeloproliferative disorders

S. Kulkarni, M. Calasanz, G. Martinelli, 2003, British journal of haematology.

Two patients with novel BCR/ABL fusion transcripts (e8/a2 and e13/a2) resulting from translocation breakpoints within BCR exons

S. Kulkarni, N. Cross, L. Lim, 1999, British journal of haematology.

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.

Marilyn M. Li, Somak Roy, Marina N Nikiforova, 2017, The Journal of molecular diagnostics : JMD.

Report Flap Endonuclease 1 Contributes to Telomere Stability

S. Kulkarni, S. Stewart, Martin Steffen, 2008 .

Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions

S. Kulkarni, M. Shinawi, L. Manwaring, 2013, American journal of medical genetics. Part A.

Multigenerational autosomal dominant inheritance of 5p chromosomal deletions

S. Kulkarni, M. Shinawi, D. Grange, 2016, American journal of medical genetics. Part A.

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

C. Ihm, M. Listewnik, S. Kulkarni, 2010, Cytogenetic and Genome Research.

Assuring the quality of next-generation sequencing in clinical laboratory practice

Shashikant Kulkarni, Bin Chen, Philip L. F. Johnson, 2012, Nature Biotechnology.

Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes

K. Offit, S. Kulkarni, Kristy Lee, 2018, Human mutation.

High resolution array comparative genomic hybridization identifies copy number alterations in diffuse large B-cell lymphoma that predict response to immuno-chemotherapy.

S. Kulkarni, R. Nagarajan, F. Kreisel, 2011, Cancer genetics.

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).

O. Griffith, M. Tolstorukov, M. Griffith, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Consistent fusion of ZNF198 to the fibroblast growth factor receptor-1 in the t(8;13)(p11;q12) myeloproliferative syndrome.

R. Aguiar, S. Kulkarni, J. Goldman, 1998, Blood.

Consistent Fusion of ZNF 198 to the Fibroblast Growth Factor Receptor-1 in the t ( 8 ; 13 ) ( p 11 ; q 12 ) Myeloproliferative Syndrome

R. Aguiar, S. Kulkarni, Jesús M. Hernández, 1998 .

Emerging DNA Sequencing Technologies

S. Kulkarni, J. Pfeifer, 2015 .

Clinical next‐generation sequencing in patients with non–small cell lung cancer

Rakesh Nagarajan, John D Pfeifer, Shashikant Kulkarni, 2015, Cancer.

Chromosome 2p15p16.1 microdeletion syndrome: 2.5 Mb deletion in a patient with renal anomalies, intractable seizures and a choledochal cyst.

S. Kulkarni, Ta-Chiang Liu, D. Grange, 2012, European journal of medical genetics.

Germinal Center B-Cells Resist Transformation by Kras Independently of Tumor Suppressor Arf

R. Vij, S. Kulkarni, M. Tomasson, 2013, PloS one.

Mouse dyskerin mutations affect accumulation of telomerase RNA and small nucleolar RNA, telomerase activity, and ribosomal RNA processing.

S. Kulkarni, Jun He, M. Bessler, 2004, Proceedings of the National Academy of Sciences of the United States of America.

PREGNANCY COMPLICATED WITH HEREDITARY SPHEROCYTOSIS – LESSONS LEARNT FROM A CASE AND REVIEW OF LITERATURE.

S. Kulkarni, Parul Verma, 2016 .

Association Between Mutation Clearance After Induction Therapy and Outcomes in Acute Myeloid Leukemia.

Christopher A. Miller, R. Wilson, R. Fulton, 2015, JAMA.

Disruption of ROBO2 Is Associated with Urinary Tract Anomalies and Confers Risk of Vesicoureteral Reflux

J. Lupski, C. Wijmenga, S. Kulkarni, 2007 .

Gestational Trophoblastic Disease : Report of A Rare Case of Placental Site Trophoblastic Tumor

S. Kulkarni, 2017 .

Detection of FLT3 internal tandem duplication in targeted, short-read-length, next-generation sequencing data.

John D Pfeifer, Shashikant Kulkarni, David H Spencer, 2013, The Journal of molecular diagnostics : JMD.

Flap Endonuclease 1 Contributes to Telomere Stability

S. Kulkarni, S. Stewart, Martin Steffen, 2008, Current Biology.

Comprehensive discovery of noncoding RNAs in acute myeloid leukemia cell transcriptomes.

Christopher A. Miller, R. Wilson, R. Fulton, 2017, Experimental hematology.

Regulatory Considerations Related to Clinical Next Generation Sequencing

John D. Pfeifer, Shashikant Kulkarni, S. Kulkarni, 2015 .

Somatic cancer variant curation and harmonization through consensus minimum variant level data

Subha Madhavan, Deborah I. Ritter, Shruti Rao, 2016, Genome Medicine.

Comprehensive genomic analysis reveals FLT3 activation and a therapeutic strategy for a patient with relapsed adult B-lymphoblastic leukemia.

Benjamin J. Ainscough, Katie M. Campbell, James M. Eldred, 2016, Experimental hematology.

Genomic heterogeneity of ALK fusion breakpoints in non-small-cell lung cancer

Jon R. Armstrong, Samantha N. McNulty, R. Govindan, 2018, Modern Pathology.

Good laboratory practice for clinical next-generation sequencing informatics pipelines

Shashikant Kulkarni, Pavel Skums, David S. Campo, 2015, Nature Biotechnology.

ClinGen Cancer Somatic Working Group - Standardizing and democratizing access to cancer molecular diagnostic data to drive translational research

Subha Madhavan, Shruti Rao, Dmitriy Sonkin, 2018, PSB.

Clingen Cancer Somatic Working Group – standardizing and democratizing access to cancer molecular diagnostic data to drive translational research

O. Griffith, M. Griffith, S. Kulkarni, 2017, bioRxiv.

Genetic variation in MKL2 and decreased downstream PCTAIRE1 expression in extreme, fatal primary human microcephaly

S. Kulkarni, M. Parmacek, T. Druley, 2013, Clinical genetics.

Best practices for the interpretation and reporting of clinical whole genome sequencing

David R. Murdock, Denise L. Perry, V. Jobanputra, 2022, NPJ genomic medicine.

Scoliosis and vertebral anomalies: Additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement

S. Kulkarni, M. Shinawi, N. Hauser, 2014, American journal of medical genetics. Part A.

Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA

Yanming Feng, Fan Xia, Shashikant Kulkarni, 2019, Nature Medicine.

Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease

Christian R. Marshall, Shimul Chowdhury, Ryan J. Taft, 2020, npj Genomic Medicine.

Aberrantly resolved RAG-mediated DNA breaks in Atm-deficient lymphocytes target chromosomal breakpoints in cis

S. Kulkarni, C. Bassing, M. Mahowald, 2009, Proceedings of the National Academy of Sciences.

Frequent deletion of hSNF5/INI1, a component of the SWI/SNF complex, in chronic myeloid leukemia.

S. Kulkarni, J. Goldman, A. Chase, 1999, Cancer research.

Immunohistochemical analysis of monocytic leukemias: usefulness of CD14 and Kruppel-like factor 4, a novel monocyte marker.

J. Klco, S. Kulkarni, F. Kreisel, 2011, American journal of clinical pathology.

The genomic structure of ZNF198 and location of breakpoints in the t(8;13) myeloproliferative syndrome.

D. Smedley, S. Kulkarni, J. Goldman, 1999, Genomics.

Genomic analysis of mycosis fungoides and Sézary syndrome identifies recurrent alterations in TNFR2

Ashley M. Zehnder, Carolyn S. Lee, Michael P. Snyder, 2015, Nature Genetics.

Genetic alterations in renal cell carcinoma with rhabdoid differentiation.

P. Humphrey, S. Kulkarni, V. Hucthagowder, 2015, Human pathology.

The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic

V. Jobanputra, C. Marshall, E. Ashley, 2020, Genome Medicine.

Somatic cancer variant curation and harmonization through consensus minimum variant level data

Reece K. Hart, Caleb F. Davis, Meredith A. Weaver, 2016, Genome Medicine.

Resequencing analysis of the candidate tyrosine kinase and RAS pathway gene families in multiple myeloma.

Rekha R Meyer, R. Vij, S. Kulkarni, 2012, Cancer genetics.

A Phase I/II Study of Chemosensitization with the CXCR4 Antagonist Plerixafor in Relapsed or Refractory AML.

R. Vij, S. Kulkarni, P. Westervelt, 2009 .

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.

R. Vij, S. Kulkarni, P. Westervelt, 2008 .

Adapting crowdsourced clinical cancer curation in CIViC to the ClinGen minimum variant level data community‐driven standards

Joshua F. McMichael, Erica K. Barnell, Adam C. Coffman, 2018, Human mutation.

O. Griffith, M. Tolstorukov, M. Griffith, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Limited engraftment of low-risk myelodysplastic syndrome cells in NOD/SCID gamma-C chain knockout mice

J. Welch, M. Walter, S. Kulkarni, 2010, Leukemia.