Vaidehi Jobanputra

Vaidehi Jobanputra

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Vaidehi Jobanputra

Vaidehi Jobanputra

Publications by authors named "Vaidehi Jobanputra"

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Prenatal Diagnosis by Whole Exome Sequencing in Fetuses with Ultrasound Abnormalities.

Methods Mol Biol 2019 ;1885:267-285

Molecular Diagnostics, New York Genome Center, New York, NY, USA.

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http://dx.doi.org/10.1007/978-1-4939-8889-1_18DOI Listing
June 2019

Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study.

Lancet 2019 02 31;393(10173):758-767. Epub 2019 Jan 31.

Institute for Genomic Medicine, Columbia University Medical Center, New York, NY, USA; Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Columbia University Medical Center, New York, NY, USA. Electronic address:

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http://dx.doi.org/10.1016/S0140-6736(18)32042-7DOI Listing
February 2019

Phenotypic expansion and progression of SPATA7-associated retinitis pigmentosa.

Doc Ophthalmol 2018 04 6;136(2):125-133. Epub 2018 Feb 6.

Jonas Children's Vision Care, and Bernard & Shirlee Brown Glaucoma Laboratory, New York, NY, USA.

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http://dx.doi.org/10.1007/s10633-018-9626-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6015729PMC
April 2018

Whole-Exome Sequencing in Adults With Chronic Kidney Disease: A Pilot Study.

Ann Intern Med 2018 01 5;168(2):100-109. Epub 2017 Dec 5.

From Columbia University, New York, New York; VU University Medical Center, Amsterdam, the Netherlands; Nephrology Associates, Newark, Delaware; Krysiewicza Children's Hospital, Poznań, Poland; Poznań University of Medical Sciences and Center for Medical Genetics GENESIS, Poznań, Poland; IRCCS Giannina Gaslini Children's Hospital, Genova, Italy; IRCCS San Raffaele Scientific Institute, Milan, Italy; New York University School of Medicine, New York, New York; University of Texas Southwestern Medical Center, Dallas, Texas; and French Institute of Health and Medical Research (INSERM) U1163, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, and Necker Hospital, Paris, France.

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http://dx.doi.org/10.7326/M17-1319DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5947852PMC
January 2018

Comparing sequencing assays and human-machine analyses in actionable genomics for glioblastoma.

Neurol Genet 2017 Aug 11;3(4):e164. Epub 2017 Jul 11.

New York Genome Center (K.O.W., M.O.F., N.R., A.-K.E., B.-J.C., K.A., M.S., V.V., E.A.B., J.L.M.V., M.C.Z., V.J., R.B.D.); IBM Thomas J. Watson Research Center (T.K., K.R., F.U., R.N., E.B., L.P., A.K.R.); Columbia University Medical Center (J.N.B., A.B.L., P.C., V.J.); Memorial Sloan-Kettering Cancer Center (C.G.), New York, NY; IBM Watson Health (S.H., V.V.M.), Boca Raton, FL; Laboratory of Molecular Neuro-Oncology (M.O.F., R.B.D.), and Howard Hughes Medical Institute (R.B.D.), The Rockefeller University, New York, NY. B.-J.C. is currently affiliated with Google, New York, NY. V.V. is currently affiliated with 23andMe, Inc., Mountain View, CA. E.A.B. is currently affiliated with Max Planck Institute of Immunobiology and Epigenetics, Freiburg, Germany.

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http://dx.doi.org/10.1212/NXG.0000000000000164DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5506390PMC
August 2017

Langerhans Cell Histiocytosis: Diagnosis on Thyroid Aspirate and Review of the Literature.

Head Neck Pathol 2015 Dec 18;9(4):496-502. Epub 2015 Jan 18.

Department of Pathology and Laboratory Medicine, Weill Cornell Medical College, Cornell University, 525 East 68th Street, Suite F-766, New York, NY, 10065, USA.

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http://dx.doi.org/10.1007/s12105-015-0608-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4651922PMC
December 2015

Bohring-Opitz syndrome (BOS) with a new ASXL1 pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome.

Am J Med Genet A 2015 Dec 14;167A(12):3161-6. Epub 2015 Sep 14.

Department of Pediatrics, Columbia University Medical Center, New York.

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http://dx.doi.org/10.1002/ajmg.a.37342DOI Listing
December 2015

G6PD Deficiency in an HIV Clinic Setting in the Dominican Republic.

Am J Trop Med Hyg 2015 Oct 3;93(4):722-9. Epub 2015 Aug 3.

Department of Pathology and Cell Biology, Columbia University Medical Center, New York, New York; Clínica de Familia La Romana, La Romana, Dominican Republic; IFAP Global Health Program, Columbia University Medical Center, New York, New York.

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http://dx.doi.org/10.4269/ajtmh.14-0295DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4596589PMC
October 2015

CD19-negative B-lymphoblastic leukemia associated with hypercalcemia, lytic bone lesions and aleukemic presentation.

Leuk Lymphoma 2015 May 5;56(5):1533-7. Epub 2014 Nov 5.

Department of Pathology and Cell Biology, New York Presbyterian Hospital/Columbia University Medical Center , New York, NY , USA.

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http://dx.doi.org/10.3109/10428194.2014.963579DOI Listing
May 2015

Practical diagnostic approaches to composite plasma cell neoplasm and low grade B-cell lymphoma/clonal infiltrates in the bone marrow.

Hematol Oncol 2015 Mar 3;33(1):31-41. Epub 2014 Jan 3.

Department of Pathology and Cell Biology, New York Presbyterian Hospital/Columbia University Medical Center, New York, NY, USA.

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http://dx.doi.org/10.1002/hon.2129DOI Listing
March 2015

Indolent small intestinal CD4+ T-cell lymphoma is a distinct entity with unique biologic and clinical features.

PLoS One 2013 4;8(7):e68343. Epub 2013 Jul 4.

Department of Pathology and Cell Biology, Columbia University Medical Center, New York, New York, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0068343PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3701677PMC
February 2014

Peripheral T-cell lymphoma emerging in a patient with aggressive polymyositis: molecular evidence for neoplastic transformation of an oligoclonal T-cell infiltrate.

Acta Neuropathol 2013 Oct 13;126(4):595-601. Epub 2013 Aug 13.

Division of Neuropathology, Department of Pathology and Cell Biology, Columbia University Medical Center and New York Presbyterian Hospital, 630 W. 168th Street, PH15-124, New York, 10032, USA,

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http://link.springer.com/content/pdf/10.1007/s00401-013-1164
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http://link.springer.com/10.1007/s00401-013-1164-z
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http://dx.doi.org/10.1007/s00401-013-1164-zDOI Listing
October 2013

Recurrent pregnancy loss in a woman with NLRP7 mutation: not all molar pregnancies can be easily classified as either "partial" or "complete" hydatidiform moles.

Int J Gynecol Pathol 2013 Jul;32(4):399-405

Department of Obstetrics and Gynecology, University of Vermont, College of Medicine, Burlington, Vermont 05405, USA.

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http://dx.doi.org/10.1097/PGP.0b013e31826cbf6aDOI Listing
July 2013

Duplication of the ZIC2 gene is not associated with holoprosencephaly.

Am J Med Genet A 2012 Jan 21;158A(1):103-8. Epub 2011 Nov 21.

Department of Pathology, Columbia University Medical Center, New York, New York, USA.

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http://doi.wiley.com/10.1002/ajmg.a.34375
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http://dx.doi.org/10.1002/ajmg.a.34375DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3715301PMC
January 2012

Using FISH to increase the yield and accuracy of karyotypes from spontaneous abortion specimens.

Prenat Diagn 2011 Aug 11;31(8):755-9. Epub 2011 Apr 11.

Department of Pathology, Columbia University, New York, NY, USA.

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http://dx.doi.org/10.1002/pd.2759DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3791617PMC
August 2011

Prenatal PAH exposure is associated with chromosome-specific aberrations in cord blood.

Mutat Res 2010 Dec 13;703(2):108-14. Epub 2010 Aug 13.

Departments of Pediatrics (Oncology) , Environmental Health Sciences, Biostatistics and Genetics, Columbia University, New York, NY, United States.

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http://dx.doi.org/10.1016/j.mrgentox.2010.08.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2991476PMC
December 2010

Changes in an inherited ring (22) due to meiotic recombination? Implications for genetic counseling.

Am J Med Genet A 2009 Jun;149A(6):1310-4

Department of Pathology, Columbia University, New York, New York 10032, USA.

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http://dx.doi.org/10.1002/ajmg.a.32680DOI Listing
June 2009

Distinct properties of cyclin-dependent kinase complexes containing cyclin A1 and cyclin A2.

Biochem Biophys Res Commun 2009 Jan 3;378(3):595-9. Epub 2008 Dec 3.

Department of Gen. and Dev., Columbia University Medical Center, New York, NY 10032, USA.

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http://dx.doi.org/10.1016/j.bbrc.2008.11.077DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4039035PMC
January 2009

Preparation and culture of products of conception and other solid tissues for chromosome analysis.

Curr Protoc Hum Genet 2009 Jan;Chapter 8:Unit 8.5

College of Physicians and Surgeons of Columbia University, New York, USA.

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http://dx.doi.org/10.1002/0471142905.hg0805s60DOI Listing
January 2009

Application of ROMA (representational oligonucleotide microarray analysis) to patients with cytogenetic rearrangements.

Genet Med 2005 Feb;7(2):111-8

Department of Obstetrics and Gynecology, Columbia University Medical Center, New York, NY, USA.

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http://dx.doi.org/10.109701.GIM.0000153661.11110.FBDOI Listing
February 2005

The A-type cyclins and the meiotic cell cycle in mammalian male germ cells.

Int J Androl 2004 Aug;27(4):192-9

Department of Genetics & Development, Institute of Human Nutrition, Center for Reproductive Sciences, and The Herbert Irving Comprehensive Cancer Center, Columbia University Medical Center, New York, NY 10032, USA.

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http://dx.doi.org/10.1111/j.1365-2605.2004.00480.xDOI Listing
August 2004

Molecular genetics of schizophrenia: a critical review.

J Psychiatry Neurosci 2003 Nov;28(6):415-29

Department of Psychiatry, All India Institute of Medical Sciences, New Delhi, India.

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https://pdfs.semanticscholar.org/bd17/2facaba113886913dd1c24
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http://jpn.ca/wp-content/uploads/2014/06/28-6-415.pdf
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https://www.cambridge.org/core/services/aop-cambridge-core/c
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC257788PMC
November 2003

Human molecular cytogenetics: diagnosis, prognosis, and disease management.

Teratog Carcinog Mutagen 2003 ;Suppl 1:225-33

Department of Anatomy, All India Institute of Medical Sciences, New Delhi, India.

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http://dx.doi.org/10.1002/tcm.10049DOI Listing
September 2003

Evaluation of minimal residual disease in patients with chronic myeloid leukaemia on IFN-alpha 2b therapy using conventional cytogenetics and fluorescence in situ hybridization.

Natl Med J India 2002 Jul-Aug;15(4):195-8

All India Institute of Medical Sciences, Ansari Nagar, New Delhi.

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November 2002

Multiplex interphase FISH as a screen for common aneuploidies in spontaneous abortions.

Hum Reprod 2002 May;17(5):1166-70

Department of Anatomy, All India Institute of Medical Sciences, New Delhi, India.

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http://dx.doi.org/10.1093/humrep/17.5.1166DOI Listing
May 2002