Shalini Reshmi

Shalini Reshmi

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Shalini Reshmi

Shalini Reshmi

Publications by authors named "Shalini Reshmi"

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31Publications

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Reclassification of Variants of Uncertain Significance in Children with Inherited Arrhythmia Syndromes is Predicted by Clinical Factors.

Pediatr Cardiol 2019 Sep 18. Epub 2019 Sep 18.

Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA.

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http://dx.doi.org/10.1007/s00246-019-02203-2DOI Listing
September 2019

Pericentromeric regions of homozygosity on the X chromosome: Another likely benign population variant.

Eur J Med Genet 2018 Jul 20;61(7):416-420. Epub 2018 Mar 20.

The Institute for Genomic Medicine at Nationwide Children's Hospital, Columbus, OH, USA; The Ohio State University College of Medicine, Department of Pathology, Columbus, OH, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.02.008DOI Listing
July 2018

Assessing the Clinical Utility of SNP Microarray for Prader-Willi Syndrome due to Uniparental Disomy.

Cytogenet Genome Res 2017 27;152(2):105-109. Epub 2017 Jul 27.

Division of Molecular and Human Genetics, Columbus, OH, USA.

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http://dx.doi.org/10.1159/000478921DOI Listing
September 2017

Genomic analysis of adult B-ALL identifies potential markers of shorter survival.

Leuk Res 2017 05 3;56:44-51. Epub 2017 Feb 3.

Department of Pediatrics, University of Utah, Salt Lake City, UT, USA; ARUP Institute for Clinical and Experimental Pathology, 500 Chipeta Way, Salt Lake City, UT 84108, USA; University of Utah Department of Pathology, 15N Medical Dr E, JMRB Rm2100, Salt Lake City, UT 84112, USA. Electronic address:

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http://dx.doi.org/10.1016/j.leukres.2017.01.034DOI Listing
May 2017

Variability in pathogenicity prediction programs: impact on clinical diagnostics.

Mol Genet Genomic Med 2015 Mar 3;3(2):99-110. Epub 2014 Dec 3.

Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital Columbus, Ohio ; Department of Pathology, The Ohio State University College of Medicine Columbus, Ohio.

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http://dx.doi.org/10.1002/mgg3.116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4367082PMC
March 2015

Targetable kinase-activating lesions in Ph-like acute lymphoblastic leukemia.

N Engl J Med 2014 Sep;371(11):1005-15

From the Departments of Pathology (K.G.R., D.P.-T., Y.-L.Y., K. McCastlain, G.S., J.M., S.-C.C., J.C., N.S.-M., I.I., J.W., J.R.D., C.G.M.), Computational Biology and Bioinformatics (Y.L., J.B., M.R., E.H., P.G., P.N., G.W., X.C., J.Z.), Biostatistics (D.P., C.C.), Pharmaceutical Sciences (S.W.P., M.V.R., W.E.E.), and Oncology (C.-H.P., S.J.), the Pediatric Cancer Genome Project (Y.L., L.D., C.L., M.R., J.E., J.C., K.B., R.S.F., E.H., P.G., P.N., G.W., X.C., D.Y., B.V., H.M., M.V.R., W.E.E., E.M., R.K.W., J.R.D., J.Z., C.G.M.), and Cytogenetics Shared Resource (M.V.), St. Jude Children's Research Hospital, Memphis, TN; the University of New Mexico Cancer Center and School of Medicine, Albuquerque (R.C.H., I-M.C., C.L.W.); the Genome Institute at Washington University (L.D., C.L., R.S.F., E.M., R.K.W.), the Department of Genetics, Washington University School of Medicine (L.D., C.L., R.S.F., E.M., R.K.W.), and Siteman Cancer Center, Washington University (E.M., R.K.W.) - all in St. Louis; Epidemiology and Health Policy Research, College of Medicine, University of Florida, Gainesville (M.D.); the Research Institute at Nationwide Children's Hospital (S.R., A.S., J.M.G.-F.), the Department of Pathology, College of Medicine, Ohio State University (N.A.H.), and Ohio State University Comprehensive Cancer Center (G.M., C.D.B., K. Mrózek, J.K.) - all in Columbus, OH; the Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas (N.J.W.), Scott and White Hospitals and Clinics and Texas A&M Health Science Center, Temple (G.G.), the University of Texas Health Science Center San Antonio, San Antonio (M.F.-J.), and the Departments of Leukemia and Stem Cell Transplantation, Division of Cancer Medicine, University of Texas M.D. Anderson Cancer Center, Houston (S.M.K., M.K.) - all in Texas; Maine Children's Cancer Program, Scarborough (E.C.L.); New York University Cancer Institute, New York (W.L.C.), and the Department of Medicine (Oncology), Albert Einstein

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http://dx.doi.org/10.1056/NEJMoa1403088DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4191900PMC
September 2014

Atypical breakpoint in a t(6;17) translocation case of acampomelic campomelic dysplasia.

Eur J Med Genet 2014 Jul 10;57(7):315-8. Epub 2014 May 10.

Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA; Department of Pathology, The Ohio State University College of Medicine, Columbus, OH, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.04.018DOI Listing
July 2014

Neurodevelopmental disorders among individuals with duplication of 4p13 to 4p12 containing a GABAA receptor subunit gene cluster.

Eur J Hum Genet 2014 Jan 22;22(1):105-9. Epub 2013 May 22.

1] Division of Molecular and Human Genetics, The Research Institute, Nationwide Children's Hospital, Columbus, OH, USA [2] Department of Pediatrics, The Ohio State University, Columbus, OH, USA [3] Center for Cardiovascular and Pulmonary Research, The Research Institute, Nationwide Children's Hospital, Columbus, OH, USA.

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http://dx.doi.org/10.1038/ejhg.2013.99DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865421PMC
January 2014

A case of an atypically large proximal 15q deletion as cause for Prader-Willi syndrome arising from a de novo unbalanced translocation.

Eur J Med Genet 2013 Sep 13;56(9):510-4. Epub 2013 Jul 13.

Department of Pediatrics, The Ohio State University College of Medicine, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH 43205, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2013.05.010DOI Listing
September 2013

Characterization of copy number variation in genomic regions containing STR loci using array comparative genomic hybridization.

Forensic Sci Int Genet 2013 Sep 28;7(5):475-81. Epub 2013 Jun 28.

Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH 43205, USA.

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http://dx.doi.org/10.1016/j.fsigen.2013.05.008DOI Listing
September 2013

12q14 microdeletion associated with HMGA2 gene disruption and growth restriction.

Am J Med Genet A 2012 Nov 14;158A(11):2925-30. Epub 2012 Sep 14.

Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.

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http://dx.doi.org/10.1002/ajmg.a.35610DOI Listing
November 2012

Microarray comparative genomic hybridization and cytogenetic characterization of tissue-specific mosaicism in three patients.

Am J Med Genet A 2012 Aug 11;158A(8):1924-33. Epub 2012 Jul 11.

Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, and The Ohio State University College of Medicine, Columbus, Ohio 43205, USA.

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http://dx.doi.org/10.1002/ajmg.a.35477DOI Listing
August 2012

Novel diagnostic features of dysferlinopathies.

Muscle Nerve 2010 Jul;42(1):14-21

Department of Pediatrics, Neuromuscular Division, Nationwide Children's Hospital, Columbus, Ohio, USA.

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http://dx.doi.org/10.1002/mus.21650DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3025537PMC
July 2010

Cytogenetic and genetic pathways in therapy-related acute myeloid leukemia.

Chem Biol Interact 2010 Mar 1;184(1-2):50-7. Epub 2009 Dec 1.

Section of Hematology/Oncology, Department of Medicine and the Cancer Research Center, University of Chicago, 5841 S Maryland Ave, MC2115, Chicago, IL 60637, USA.

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http://dx.doi.org/10.1016/j.cbi.2009.11.025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4642715PMC
March 2010

Chromosomal imbalances in oral squamous cell carcinoma: examination of 31 cell lines and review of the literature.

Oral Oncol 2008 Apr 2;44(4):369-82. Epub 2007 Aug 2.

Department of Human Genetics, University of Pittsburgh, Graduate School of Public Health, 130 DeSoto Street, Pittsburgh, PA 15261, United States.

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http://dx.doi.org/10.1016/j.oraloncology.2007.05.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2362065PMC
April 2008

Relationship between FRA11F and 11q13 gene amplification in oral cancer.

Genes Chromosomes Cancer 2007 Feb;46(2):143-54

Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, PA 15261, USA.

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http://dx.doi.org/10.1002/gcc.20394DOI Listing
February 2007

Loss of DNA polymerase zeta causes chromosomal instability in mammalian cells.

Cancer Res 2006 Jan;66(1):134-42

Department of Pharmacology, University of Pittsburgh Medical School and University of Pittsburgh Cancer Institute, Pittsburgh, Pennsylvania, USA.

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http://dx.doi.org/10.1158/0008-5472.CAN-05-2982DOI Listing
January 2006

Deletion 6q is not a characteristic marker of nodal lymphoplasmacytic lymphoma.

Cancer Genet Cytogenet 2005 Oct;162(1):85-8

Department of Clinical Pathology, Cleveland Clinic Foundation, Cleveland, OH, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S016546080500220
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http://dx.doi.org/10.1016/j.cancergencyto.2005.04.013DOI Listing
October 2005

Chromosomal instability and marker chromosome evolution in oral squamous cell carcinoma.

Genes Chromosomes Cancer 2004 Sep;41(1):38-46

Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, Pennsylvania, USA.

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http://dx.doi.org/10.1002/gcc.20064DOI Listing
September 2004

Mapping and analysis of HPV16 integration sites in a head and neck cancer cell line.

Int J Cancer 2004 Jul;110(5):701-9

Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, PA 15261, USA.

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http://dx.doi.org/10.1002/ijc.20193DOI Listing
July 2004