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Items: 1 to 50 of 56

1.

Correction to: Sequencing and curation strategies for identifying candidate glioblastoma treatments.

Frank MO, Koyama T, Rhrissorrakrai K, Robine N, Utro F, Emde AK, Chen BJ, Arora K, Shah M, Geiger H, Felice V, Dikoglu E, Rahman S, Fang X, Vacic V, Bergmann EA, Moore Vogel JL, Reeves C, Khaira D, Calabro A, Kim D, Lamendola-Essel MF, Esteves C, Agius P, Stolte C, Boockvar J, Demopoulos A, Placantonakis DG, Golfinos JG, Brennan C, Bruce J, Lassman AB, Canoll P, Grommes C, Daras M, Diamond E, Omuro A, Pentsova E, Orange DE, Harvey SJ, Posner JB, Michelini VV, Jobanputra V, Zody MC, Kelly J, Parida L, Wrzeszczynski KO, Royyuru AK, Darnell RB.

BMC Med Genomics. 2019 Aug 2;12(1):114. doi: 10.1186/s12920-019-0563-y.

2.

Sequencing and curation strategies for identifying candidate glioblastoma treatments.

Frank MO, Koyama T, Rhrissorrakrai K, Robine N, Utro F, Emde AK, Chen BJ, Arora K, Shah M, Geiger H, Felice V, Dikoglu E, Rahman S, Fang A, Vacic V, Bergmann EA, Vogel JLM, Reeves C, Khaira D, Calabro A, Kim D, Lamendola-Essel MF, Esteves C, Agius P, Stolte C, Boockvar J, Demopoulos A, Placantonakis DG, Golfinos JG, Brennan C, Bruce J, Lassman AB, Canoll P, Grommes C, Daras M, Diamond E, Omuro A, Pentsova E, Orange DE, Harvey SJ, Posner JB, Michelini VV, Jobanputra V, Zody MC, Kelly J, Parida L, Wrzeszczynski KO, Royyuru AK, Darnell RB.

BMC Med Genomics. 2019 Apr 25;12(1):56. doi: 10.1186/s12920-019-0500-0. Erratum in: BMC Med Genomics. 2019 Aug 2;12(1):114.

3.

High-resolution genomic alterations in Barrett's metaplasia of patients who progress to esophageal dysplasia and adenocarcinoma.

Sepulveda JL, Komissarova EV, Kongkarnka S, Friedman RA, Davison JM, Levy B, Bryk D, Jobanputra V, Del Portillo A, Falk GW, Sonett JR, Lightdale CJ, Abrams JA, Wang TC, Sepulveda AR.

Int J Cancer. 2019 Apr 19. doi: 10.1002/ijc.32351. [Epub ahead of print]

PMID:
31001805
4.

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

Petrovski S, Aggarwal V, Giordano JL, Stosic M, Wou K, Bier L, Spiegel E, Brennan K, Stong N, Jobanputra V, Ren Z, Zhu X, Mebane C, Nahum O, Wang Q, Kamalakaran S, Malone C, Anyane-Yeboa K, Miller R, Levy B, Goldstein DB, Wapner RJ.

Lancet. 2019 Feb 23;393(10173):758-767. doi: 10.1016/S0140-6736(18)32042-7. Epub 2019 Jan 31.

PMID:
30712878
5.

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

Felice V, Abhyankar A, Jobanputra V.

Methods Mol Biol. 2019;1885:267-285. doi: 10.1007/978-1-4939-8889-1_18.

PMID:
30506204
6.

Analytical Validation of Clinical Whole-Genome and Transcriptome Sequencing of Patient-Derived Tumors for Reporting Targetable Variants in Cancer.

Wrzeszczynski KO, Felice V, Abhyankar A, Kozon L, Geiger H, Manaa D, London F, Robinson D, Fang X, Lin D, Lamendola-Essel MF, Khaira D, Dikoglu E, Emde AK, Robine N, Shah M, Arora K, Basturk O, Bhanot U, Kentsis A, Mansukhani MM, Bhagat G, Jobanputra V.

J Mol Diagn. 2018 Nov;20(6):822-835. doi: 10.1016/j.jmoldx.2018.06.007. Epub 2018 Aug 21.

7.

Phenotypic expansion and progression of SPATA7-associated retinitis pigmentosa.

Sengillo JD, Lee W, Bilancia CG, Jobanputra V, Tsang SH.

Doc Ophthalmol. 2018 Apr;136(2):125-133. doi: 10.1007/s10633-018-9626-1. Epub 2018 Feb 6.

8.

Whole Genome Sequencing-Based Discovery of Structural Variants in Glioblastoma.

Wrzeszczynski KO, Felice V, Shah M, Rahman S, Emde AK, Jobanputra V, O Frank M, Darnell RB.

Methods Mol Biol. 2018;1741:1-29. doi: 10.1007/978-1-4939-7659-1_1.

PMID:
29392687
9.

Clinical whole exome sequencing from dried blood spot identifies novel genetic defect underlying asparagine synthetase deficiency.

Abhyankar A, Lamendola-Essel M, Brennan K, Giordano JL, Esteves C, Felice V, Wapner R, Jobanputra V.

Clin Case Rep. 2017 Dec 15;6(1):200-205. doi: 10.1002/ccr3.1284. eCollection 2018 Jan.

10.

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

Lata S, Marasa M, Li Y, Fasel DA, Groopman E, Jobanputra V, Rasouly H, Mitrotti A, Westland R, Verbitsky M, Nestor J, Slater LM, D'Agati V, Zaniew M, Materna-Kiryluk A, Lugani F, Caridi G, Rampoldi L, Mattoo A, Newton CA, Rao MK, Radhakrishnan J, Ahn W, Canetta PA, Bomback AS, Appel GB, Antignac C, Markowitz GS, Garcia CK, Kiryluk K, Sanna-Cherchi S, Gharavi AG.

Ann Intern Med. 2018 Jan 16;168(2):100-109. doi: 10.7326/M17-1319. Epub 2017 Dec 5. Erratum in: Ann Intern Med. 2018 Feb 20;168(4):308.

11.

Impact of Receiving Secondary Results from Genomic Research: A 12-Month Longitudinal Study.

Wynn J, Martinez J, Bulafka J, Duong J, Zhang Y, Chiuzan C, Preti J, Cremona ML, Jobanputra V, Fyer AJ, Klitzman RL, Appelbaum PS, Chung WK.

J Genet Couns. 2018 Jun;27(3):709-722. doi: 10.1007/s10897-017-0172-x. Epub 2017 Nov 22.

12.

Pancreatic intraductal tubulopapillary neoplasm is genetically distinct from intraductal papillary mucinous neoplasm and ductal adenocarcinoma.

Basturk O, Berger MF, Yamaguchi H, Adsay V, Askan G, Bhanot UK, Zehir A, Carneiro F, Hong SM, Zamboni G, Dikoglu E, Jobanputra V, Wrzeszczynski KO, Balci S, Allen P, Ikari N, Takeuchi S, Akagawa H, Kanno A, Shimosegawa T, Morikawa T, Motoi F, Unno M, Higuchi R, Yamamoto M, Shimizu K, Furukawa T, Klimstra DS.

Mod Pathol. 2017 Dec;30(12):1760-1772. doi: 10.1038/modpathol.2017.60. Epub 2017 Aug 4.

13.

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

Wrzeszczynski KO, Frank MO, Koyama T, Rhrissorrakrai K, Robine N, Utro F, Emde AK, Chen BJ, Arora K, Shah M, Vacic V, Norel R, Bilal E, Bergmann EA, Moore Vogel JL, Bruce JN, Lassman AB, Canoll P, Grommes C, Harvey S, Parida L, Michelini VV, Zody MC, Jobanputra V, Royyuru AK, Darnell RB.

Neurol Genet. 2017 Jul 11;3(4):e164. doi: 10.1212/NXG.0000000000000164. eCollection 2017 Aug.

14.

Indel variant analysis of short-read sequencing data with Scalpel.

Fang H, Bergmann EA, Arora K, Vacic V, Zody MC, Iossifov I, O'Rawe JA, Wu Y, Jimenez Barron LT, Rosenbaum J, Ronemus M, Lee YH, Wang Z, Dikoglu E, Jobanputra V, Lyon GJ, Wigler M, Schatz MC, Narzisi G.

Nat Protoc. 2016 Dec;11(12):2529-2548. doi: 10.1038/nprot.2016.150. Epub 2016 Nov 17.

15.

Genetic landscape of T- and NK-cell post-transplant lymphoproliferative disorders.

Margolskee E, Jobanputra V, Jain P, Chen J, Ganapathi K, Nahum O, Levy B, Morscio J, Murty V, Tousseyn T, Alobeid B, Mansukhani M, Bhagat G.

Oncotarget. 2016 Jun 21;7(25):37636-37648. doi: 10.18632/oncotarget.9400.

16.

The oncocytic subtype is genetically distinct from other pancreatic intraductal papillary mucinous neoplasm subtypes.

Basturk O, Tan M, Bhanot U, Allen P, Adsay V, Scott SN, Shah R, Berger MF, Askan G, Dikoglu E, Jobanputra V, Wrzeszczynski KO, Sigel C, Iacobuzio-Donahue C, Klimstra DS.

Mod Pathol. 2016 Sep;29(9):1058-69. doi: 10.1038/modpathol.2016.98. Epub 2016 Jun 10.

17.

The genetic landscape of dural marginal zone lymphomas.

Ganapathi KA, Jobanputra V, Iwamoto F, Jain P, Chen J, Cascione L, Nahum O, Levy B, Xie Y, Khattar P, Hoehn D, Bertoni F, Murty VV, Pittaluga S, Jaffe ES, Alobeid B, Mansukhani MM, Bhagat G.

Oncotarget. 2016 Jul 12;7(28):43052-43061. doi: 10.18632/oncotarget.9678.

18.

Congenital hypothyroidism and thyroid dyshormonogenesis: a case report of siblings with a newly identified mutation in thyroperoxidase.

Sparling DP, Fabian K, Harik L, Jobanputra V, Anyane-Yeboa K, Oberfield SE, Fennoy I.

J Pediatr Endocrinol Metab. 2016 May 1;29(5):627-31. doi: 10.1515/jpem-2015-0253.

19.

A multicenter, cross-platform clinical validation study of cancer cytogenomic arrays.

Li MM, Monzon FA, Biegel JA, Jobanputra V, Laffin JJ, Levy B, Leon A, Miron P, Rossi MR, Toruner G, Alvarez K, Doho G, Dougherty MJ, Hu X, Kash S, Streck D, Znoyko I, Hagenkord JM, Wolff DJ.

Cancer Genet. 2015 Nov;208(11):525-36. doi: 10.1016/j.cancergen.2015.08.002. Epub 2015 Aug 28.

PMID:
26454669
20.

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

Dangiolo SB, Wilson A, Jobanputra V, Anyane-Yeboa K.

Am J Med Genet A. 2015 Dec;167A(12):3161-6. doi: 10.1002/ajmg.a.37342. Epub 2015 Sep 14. Review.

PMID:
26364555
21.

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

Xu JZ, Francis RO, Lerebours Nadal LE, Shirazi M, Jobanputra V, Hod EA, Jhang JS, Stotler BA, Spitalnik SL, Nicholas SW.

Am J Trop Med Hyg. 2015 Oct;93(4):722-9. doi: 10.4269/ajtmh.14-0295. Epub 2015 Aug 3.

22.

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

Saqi A, Kuker AP, Ebner SA, Ausiello J, Jobanputra V, Bhagat G, Giorgadze TA.

Head Neck Pathol. 2015 Dec;9(4):496-502. doi: 10.1007/s12105-015-0608-2. Epub 2015 Jan 18. Review.

23.

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

Hussein S, Pinkney K, Jobanputra V, Bhagat G, Alobeid B.

Leuk Lymphoma. 2015 May;56(5):1533-7. doi: 10.3109/10428194.2014.963579. Epub 2014 Nov 5. No abstract available.

PMID:
25219596
24.

Prenatal diagnosis of chromothripsis, with nine breaks characterized by karyotyping, FISH, microarray and whole-genome sequencing.

Macera MJ, Sobrino A, Levy B, Jobanputra V, Aggarwal V, Mills A, Esteves C, Hanscom C, Pereira S, Pillalamarri V, Ordulu Z, Morton CC, Talkowski M, Warburton D.

Prenat Diagn. 2015 Mar;35(3):299-301. doi: 10.1002/pd.4456. Epub 2015 Feb 4. No abstract available.

25.

Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth.

DeStefano GM, Kurban M, Anyane-Yeboa K, Dall'Armi C, Di Paolo G, Feenstra H, Silverberg N, Rohena L, López-Cepeda LD, Jobanputra V, Fantauzzo KA, Kiuru M, Tadin-Strapps M, Sobrino A, Vitebsky A, Warburton D, Levy B, Salas-Alanis JC, Christiano AM.

PLoS Genet. 2014 May 15;10(5):e1004333. doi: 10.1371/journal.pgen.1004333. eCollection 2014.

26.

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

Hussein S, Gill K, Baer LN, Hoehn D, Mansukhani M, Jobanputra V, Bhagat G, Alobeid B.

Hematol Oncol. 2015 Mar;33(1):31-41. doi: 10.1002/hon.2129. Epub 2014 Jan 3.

PMID:
24395190
27.

The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease.

Warburton D, Ronemus M, Kline J, Jobanputra V, Williams I, Anyane-Yeboa K, Chung W, Yu L, Wong N, Awad D, Yu CY, Leotta A, Kendall J, Yamrom B, Lee YH, Wigler M, Levy D.

Hum Genet. 2014 Jan;133(1):11-27. doi: 10.1007/s00439-013-1353-9. Epub 2013 Aug 25.

28.

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

Tsankova NM, Bevan C, Jobanputra V, Ko YC, Mayer EW, Lefkowitch JH, Mansukhani M, Rowland LP, Bhagat G, Tanji K.

Acta Neuropathol. 2013 Oct;126(4):595-601. doi: 10.1007/s00401-013-1164-z. Epub 2013 Aug 13.

PMID:
23942639
29.

Partial uniparental disomy with mosaic deletion 13q in an infant with multiple congenital anomalies.

Jobanputra V, Wilson A, Shirazi M, Feenstra H, Levy B, Anyane-Yeboa K, Warburton D.

Am J Med Genet A. 2013 Sep;161A(9):2393-5. doi: 10.1002/ajmg.a.36040. Epub 2013 Jul 29. No abstract available.

PMID:
23897564
30.

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

Margolskee E, Jobanputra V, Lewis SK, Alobeid B, Green PH, Bhagat G.

PLoS One. 2013 Jul 4;8(7):e68343. doi: 10.1371/journal.pone.0068343. Print 2013.

31.

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

Brown L, Mount S, Reddy R, Slim R, Wong C, Jobanputra V, Clifford P, Merrill L, Brown S.

Int J Gynecol Pathol. 2013 Jul;32(4):399-405. doi: 10.1097/PGP.0b013e31826cbf6a.

PMID:
23722513
32.

Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis.

DeStefano GM, Fantauzzo KA, Petukhova L, Kurban M, Tadin-Strapps M, Levy B, Warburton D, Cirulli ET, Han Y, Sun X, Shen Y, Shirazi M, Jobanputra V, Cepeda-Valdes R, Cesar Salas-Alanis J, Christiano AM.

Proc Natl Acad Sci U S A. 2013 May 7;110(19):7790-5. doi: 10.1073/pnas.1216412110. Epub 2013 Apr 19.

33.

Copy-number disorders are a common cause of congenital kidney malformations.

Sanna-Cherchi S, Kiryluk K, Burgess KE, Bodria M, Sampson MG, Hadley D, Nees SN, Verbitsky M, Perry BJ, Sterken R, Lozanovski VJ, Materna-Kiryluk A, Barlassina C, Kini A, Corbani V, Carrea A, Somenzi D, Murtas C, Ristoska-Bojkovska N, Izzi C, Bianco B, Zaniew M, Flogelova H, Weng PL, Kacak N, Giberti S, Gigante M, Arapovic A, Drnasin K, Caridi G, Curioni S, Allegri F, Ammenti A, Ferretti S, Goj V, Bernardo L, Jobanputra V, Chung WK, Lifton RP, Sanders S, State M, Clark LN, Saraga M, Padmanabhan S, Dominiczak AF, Foroud T, Gesualdo L, Gucev Z, Allegri L, Latos-Bielenska A, Cusi D, Scolari F, Tasic V, Hakonarson H, Ghiggeri GM, Gharavi AG.

Am J Hum Genet. 2012 Dec 7;91(6):987-97. doi: 10.1016/j.ajhg.2012.10.007. Epub 2012 Nov 15.

34.

Urinary naphthol metabolites and chromosomal aberrations in 5-year-old children.

Orjuela MA, Liu X, Miller RL, Warburton D, Tang D, Jobanputra V, Hoepner L, Suen IH, Diaz-Carreño S, Li Z, Sjodin A, Perera FP.

Cancer Epidemiol Biomarkers Prev. 2012 Jul;21(7):1191-202. doi: 10.1158/1055-9965.EPI-12-0214. Epub 2012 May 9.

35.

Copy number changes on the X chromosome in women with and without highly skewed X-chromosome inactivation.

Jobanputra V, Levy B, Kinney A, Brown S, Shirazi M, Yu C, Kline J, Warburton D.

Cytogenet Genome Res. 2012;136(4):264-9. doi: 10.1159/000337920. Epub 2012 Apr 20.

36.

Duplication of the ZIC2 gene is not associated with holoprosencephaly.

Jobanputra V, Burke A, Kwame AY, Shanmugham A, Shirazi M, Brown S, Warburton PE, Levy B, Warburton D.

Am J Med Genet A. 2012 Jan;158A(1):103-8. doi: 10.1002/ajmg.a.34375. Epub 2011 Nov 21.

37.

The proximal chromosome 14q microdeletion syndrome: delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature.

Torgyekes E, Shanske AL, Anyane-Yeboa K, Nahum O, Pirzadeh S, Blumfield E, Jobanputra V, Warburton D, Levy B.

Am J Med Genet A. 2011 Aug;155A(8):1884-96. doi: 10.1002/ajmg.a.34090. Epub 2011 Jul 8. Review.

PMID:
21744488
38.

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

Jobanputra V, Esteves C, Sobrino A, Brown S, Kline J, Warburton D.

Prenat Diagn. 2011 Aug;31(8):755-9. doi: 10.1002/pd.2759. Epub 2011 Apr 11.

39.

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

Orjuela MA, Liu X, Warburton D, Siebert AL, Cujar C, Tang D, Jobanputra V, Perera FP.

Mutat Res. 2010 Dec 21;703(2):108-14. doi: 10.1016/j.mrgentox.2010.08.004. Epub 2010 Aug 13.

40.

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

Jobanputra V, Ash E, Anyane-Yeboa K, Warburton D, Levy B.

Am J Med Genet A. 2009 Jun;149A(6):1310-4. doi: 10.1002/ajmg.a.32680. No abstract available.

PMID:
19449399
41.

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

Levy B, Jobanputra V, Warburton D.

Curr Protoc Hum Genet. 2009 Jan;Chapter 8:Unit 8.5. doi: 10.1002/0471142905.hg0805s60.

PMID:
19170032
42.

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

Joshi AR, Jobanputra V, Lele KM, Wolgemuth DJ.

Biochem Biophys Res Commun. 2009 Jan 16;378(3):595-9. doi: 10.1016/j.bbrc.2008.11.077. Epub 2008 Dec 3.

43.

Strong association of de novo copy number mutations with autism.

Sebat J, Lakshmi B, Malhotra D, Troge J, Lese-Martin C, Walsh T, Yamrom B, Yoon S, Krasnitz A, Kendall J, Leotta A, Pai D, Zhang R, Lee YH, Hicks J, Spence SJ, Lee AT, Puura K, Lehtimäki T, Ledbetter D, Gregersen PK, Bregman J, Sutcliffe JS, Jobanputra V, Chung W, Warburton D, King MC, Skuse D, Geschwind DH, Gilliam TC, Ye K, Wigler M.

Science. 2007 Apr 20;316(5823):445-9. Epub 2007 Mar 15.

44.
45.

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

Jobanputra V, Sebat J, Troge J, Chung W, Anyane-Yeboa K, Wigler M, Warburton D.

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

PMID:
15714078
46.

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

Wolgemuth DJ, Lele KM, Jobanputra V, Salazar G.

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

PMID:
15271198
47.

Molecular genetics of schizophrenia: a critical review.

Berry N, Jobanputra V, Pal H.

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

48.

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

Kucheria K, Jobanputra V, Talwar R, Ahmad ME, Dada R, Sivakumaran TA.

Teratog Carcinog Mutagen. 2003;Suppl 1:225-33.

PMID:
12616613
49.
50.

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

Jobanputra V, Sobrino A, Kinney A, Kline J, Warburton D.

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

PMID:
11980734

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