Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 28

1.

Exome-Based Rare-Variant Analyses in CKD.

Cameron-Christie S, Wolock CJ, Groopman E, Petrovski S, Kamalakaran S, Povysil G, Vitsios D, Zhang M, Fleckner J, March RE, Gelfman S, Marasa M, Li Y, Sanna-Cherchi S, Kiryluk K, Allen AS, Fellström BC, Haefliger C, Platt A, Goldstein DB, Gharavi AG.

J Am Soc Nephrol. 2019 Jun;30(6):1109-1122. doi: 10.1681/ASN.2018090909. Epub 2019 May 13.

PMID:
31085678
2.

A case-control collapsing analysis identifies retinal dystrophy genes associated with ophthalmic disease in patients with no pathogenic ABCA4 variants.

Wolock CJ, Stong N, Ma CJ, Nagasaki T, Lee W, Tsang SH, Kamalakaran S, Goldstein DB, Allikmets R.

Genet Med. 2019 Mar 30. doi: 10.1038/s41436-019-0495-0. [Epub ahead of print]

PMID:
30926958
3.

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
4.

Improved Pathogenic Variant Localization via a Hierarchical Model of Sub-regional Intolerance.

Hayeck TJ, Stong N, Wolock CJ, Copeland B, Kamalakaran S, Goldstein DB, Allen AS.

Am J Hum Genet. 2019 Feb 7;104(2):299-309. doi: 10.1016/j.ajhg.2018.12.020. Epub 2019 Jan 24.

PMID:
30686509
5.

Diagnostic Utility of Exome Sequencing for Kidney Disease.

Groopman EE, Marasa M, Cameron-Christie S, Petrovski S, Aggarwal VS, Milo-Rasouly H, Li Y, Zhang J, Nestor J, Krithivasan P, Lam WY, Mitrotti A, Piva S, Kil BH, Chatterjee D, Reingold R, Bradbury D, DiVecchia M, Snyder H, Mu X, Mehl K, Balderes O, Fasel DA, Weng C, Radhakrishnan J, Canetta P, Appel GB, Bomback AS, Ahn W, Uy NS, Alam S, Cohen DJ, Crew RJ, Dube GK, Rao MK, Kamalakaran S, Copeland B, Ren Z, Bridgers J, Malone CD, Mebane CM, Dagaonkar N, Fellström BC, Haefliger C, Mohan S, Sanna-Cherchi S, Kiryluk K, Fleckner J, March R, Platt A, Goldstein DB, Gharavi AG.

N Engl J Med. 2019 Jan 10;380(2):142-151. doi: 10.1056/NEJMoa1806891. Epub 2018 Dec 26.

PMID:
30586318
6.

Whole-exome sequencing in 20,197 persons for rare variants in Alzheimer's disease.

Raghavan NS, Brickman AM, Andrews H, Manly JJ, Schupf N, Lantigua R, Wolock CJ, Kamalakaran S, Petrovski S, Tosto G, Vardarajan BN, Goldstein DB, Mayeux R; Alzheimer's Disease Sequencing Project.

Ann Clin Transl Neurol. 2018 May 24;5(7):832-842. doi: 10.1002/acn3.582. eCollection 2018 Jul. Erratum in: Ann Clin Transl Neurol. 2019 Feb 25;6(2):416.

7.

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, Van der Spek RA, Pliner HA, Shankaracharya, Smith BN, Marangi G, Topp SD, Abramzon Y, Gkazi AS, Eicher JD, Kenna A; ITALSGEN Consortium, Mora G, Calvo A, Mazzini L, Riva N, Mandrioli J, Caponnetto C, Battistini S, Volanti P, La Bella V, Conforti FL, Borghero G, Messina S, Simone IL, Trojsi F, Salvi F, Logullo FO, D'Alfonso S, Corrado L, Capasso M, Ferrucci L; Genomic Translation for ALS Care (GTAC) Consortium, Moreno CAM, Kamalakaran S, Goldstein DB; ALS Sequencing Consortium, Gitler AD, Harris T, Myers RM; NYGC ALS Consortium, Phatnani H, Musunuri RL, Evani US, Abhyankar A, Zody MC; Answer ALS Foundation, Kaye J, Finkbeiner S, Wyman SK, LeNail A, Lima L, Fraenkel E, Svendsen CN, Thompson LM, Van Eyk JE, Berry JD, Miller TM, Kolb SJ, Cudkowicz M, Baxi E; Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, Benatar M, Taylor JP, Rampersaud E, Wu G, Wuu J; SLAGEN Consortium, Lauria G, Verde F, Fogh I, Tiloca C, Comi GP, Sorarù G, Cereda C; French ALS Consortium, Corcia P, Laaksovirta H, Myllykangas L, Jansson L, Valori M, Ealing J, Hamdalla H, Rollinson S, Pickering-Brown S, Orrell RW, Sidle KC, Malaspina A, Hardy J, Singleton AB, Johnson JO, Arepalli S, Sapp PC, McKenna-Yasek D, Polak M, Asress S, Al-Sarraj S, King A, Troakes C, Vance C, de Belleroche J, Baas F, Ten Asbroek ALMA, Muñoz-Blanco JL, Hernandez DG, Ding J, Gibbs JR, Scholz SW, Floeter MK, Campbell RH, Landi F, Bowser R, Pulst SM, Ravits JM, MacGowan DJL, Kirby J, Pioro EP, Pamphlett R, Broach J, Gerhard G, Dunckley TL, Brady CB, Kowall NW, Troncoso JC, Le Ber I, Mouzat K, Lumbroso S, Heiman-Patterson TD, Kamel F, Van Den Bosch L, Baloh RH, Strom TM, Meitinger T, Shatunov A, Van Eijk KR, de Carvalho M, Kooyman M, Middelkoop B, Moisse M, McLaughlin RL, Van Es MA, Weber M, Boylan KB, Van Blitterswijk M, Rademakers R, Morrison KE, Basak AN, Mora JS, Drory VE, Shaw PJ, Turner MR, Talbot K, Hardiman O, Williams KL, Fifita JA, Nicholson GA, Blair IP, Rouleau GA, Esteban-Pérez J, García-Redondo A, Al-Chalabi A; Project MinE ALS Sequencing Consortium, Rogaeva E, Zinman L, Ostrow LW, Maragakis NJ, Rothstein JD, Simmons Z, Cooper-Knock J, Brice A, Goutman SA, Feldman EL, Gibson SB, Taroni F, Ratti A, Gellera C, Van Damme P, Robberecht W, Fratta P, Sabatelli M, Lunetta C, Ludolph AC, Andersen PM, Weishaupt JH, Camu W, Trojanowski JQ, Van Deerlin VM, Brown RH Jr, van den Berg LH, Veldink JH, Harms MB, Glass JD, Stone DJ, Tienari P, Silani V, Chiò A, Shaw CE, Traynor BJ, Landers JE.

Neuron. 2018 Mar 21;97(6):1268-1283.e6. doi: 10.1016/j.neuron.2018.02.027.

8.

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.

Sanna-Cherchi S, Khan K, Westland R, Krithivasan P, Fievet L, Rasouly HM, Ionita-Laza I, Capone VP, Fasel DA, Kiryluk K, Kamalakaran S, Bodria M, Otto EA, Sampson MG, Gillies CE, Vega-Warner V, Vukojevic K, Pediaditakis I, Makar GS, Mitrotti A, Verbitsky M, Martino J, Liu Q, Na YJ, Goj V, Ardissino G, Gigante M, Gesualdo L, Janezcko M, Zaniew M, Mendelsohn CL, Shril S, Hildebrandt F, van Wijk JAE, Arapovic A, Saraga M, Allegri L, Izzi C, Scolari F, Tasic V, Ghiggeri GM, Latos-Bielenska A, Materna-Kiryluk A, Mane S, Goldstein DB, Lifton RP, Katsanis N, Davis EE, Gharavi AG.

Am J Hum Genet. 2017 Dec 7;101(6):1034. doi: 10.1016/j.ajhg.2017.11.003. No abstract available.

9.

A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations.

Zhu X, Padmanabhan R, Copeland B, Bridgers J, Ren Z, Kamalakaran S, O'Driscoll-Collins A, Berkovic SF, Scheffer IE, Poduri A, Mei D, Guerrini R, Lowenstein DH, Allen AS, Heinzen EL, Goldstein DB.

PLoS Genet. 2017 Nov 29;13(11):e1007104. doi: 10.1371/journal.pgen.1007104. eCollection 2017 Nov.

10.

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.

Sanna-Cherchi S, Khan K, Westland R, Krithivasan P, Fievet L, Rasouly HM, Ionita-Laza I, Capone VP, Fasel DA, Kiryluk K, Kamalakaran S, Bodria M, Otto EA, Sampson MG, Gillies CE, Vega-Warner V, Vukojevic K, Pediaditakis I, Makar GS, Mitrotti A, Verbitsky M, Martino J, Liu Q, Na YJ, Goj V, Ardissino G, Gigante M, Gesualdo L, Janezcko M, Zaniew M, Mendelsohn CL, Shril S, Hildebrandt F, van Wijk JAE, Arapovic A, Saraga M, Allegri L, Izzi C, Scolari F, Tasic V, Ghiggeri GM, Latos-Bielenska A, Materna-Kiryluk A, Mane S, Goldstein DB, Lifton RP, Katsanis N, Davis EE, Gharavi AG.

Am J Hum Genet. 2017 Nov 2;101(5):789-802. doi: 10.1016/j.ajhg.2017.09.018. Erratum in: Am J Hum Genet. 2017 Dec 7;101(6):1034.

11.

InFlo: a novel systems biology framework identifies cAMP-CREB1 axis as a key modulator of platinum resistance in ovarian cancer.

Dimitrova N, Nagaraj AB, Razi A, Singh S, Kamalakaran S, Banerjee N, Joseph P, Mankovich A, Mittal P, DiFeo A, Varadan V.

Oncogene. 2017 Apr 27;36(17):2472-2482. doi: 10.1038/onc.2016.398. Epub 2016 Nov 7.

12.

Characterization of a variant of t(14;18) negative nodal diffuse follicular lymphoma with CD23 expression, 1p36/TNFRSF14 abnormalities, and STAT6 mutations.

Siddiqi IN, Friedman J, Barry-Holson KQ, Ma C, Thodima V, Kang I, Padmanabhan R, Dias LM, Kelly KR, Brynes RK, Kamalakaran S, Houldsworth J.

Mod Pathol. 2016 Jun;29(6):570-81. doi: 10.1038/modpathol.2016.51. Epub 2016 Mar 11.

13.

Brief-exposure to preoperative bevacizumab reveals a TGF-β signature predictive of response in HER2-negative breast cancers.

Varadan V, Kamalakaran S, Gilmore H, Banerjee N, Janevski A, Miskimen KL, Williams N, Basavanhalli A, Madabhushi A, Lezon-Geyda K, Bossuyt V, Lannin DR, Abu-Khalaf M, Sikov W, Dimitrova N, Harris LN.

Int J Cancer. 2016 Feb 1;138(3):747-57. doi: 10.1002/ijc.29808. Epub 2015 Aug 31.

14.

Identification of a novel clone, ST736, among Enterococcus faecium clinical isolates and its association with daptomycin nonsusceptibility.

Wang G, Kamalakaran S, Dhand A, Huang W, Ojaimi C, Zhuge J, Yee LL, Mayigowda P, Surendraiah PK, Dimitrova N, Fallon JT.

Antimicrob Agents Chemother. 2014 Aug;58(8):4848-54. doi: 10.1128/AAC.02683-14. Epub 2014 Jun 9.

15.

Integrative prediction of gene function and platinum-free survival from genomic and epigenetic features in ovarian cancer.

Wrzeszczynski KO, Varadan V, Kamalakaran S, Levine DA, Dimitrova N, Lucito R.

Methods Mol Biol. 2013;1049:35-51. doi: 10.1007/978-1-62703-547-7_4.

PMID:
23913207
16.

Translating next generation sequencing to practice: opportunities and necessary steps.

Kamalakaran S, Varadan V, Janevski A, Banerjee N, Tuck D, McCombie WR, Dimitrova N, Harris LN.

Mol Oncol. 2013 Aug;7(4):743-55. doi: 10.1016/j.molonc.2013.04.008. Epub 2013 May 15. Review.

17.

Loss of DOK2 induces carboplatin resistance in ovarian cancer via suppression of apoptosis.

Lum E, Vigliotti M, Banerjee N, Cutter N, Wrzeszczynski KO, Khan S, Kamalakaran S, Levine DA, Dimitrova N, Lucito R.

Gynecol Oncol. 2013 Aug;130(2):369-76. doi: 10.1016/j.ygyno.2013.05.002. Epub 2013 May 14.

18.

Vaginal chlamydial clearance following primary or secondary infection in mice occurs independently of TNF-α.

Kamalakaran S, Chaganty BK, Gupta R, Guentzel MN, Chambers JP, Murthy AK, Arulanandam BP.

Front Cell Infect Microbiol. 2013 Mar 11;3:11. doi: 10.3389/fcimb.2013.00011. eCollection 2013.

19.

Major chromosomal breakpoint intervals in breast cancer co-localize with differentially methylated regions.

Tang MH, Varadan V, Kamalakaran S, Zhang MQ, Dimitrova N, Hicks J.

Front Oncol. 2012 Dec 27;2:197. doi: 10.3389/fonc.2012.00197. eCollection 2012.

20.

Effective normalization for copy number variation detection from whole genome sequencing.

Janevski A, Varadan V, Kamalakaran S, Banerjee N, Dimitrova N.

BMC Genomics. 2012;13 Suppl 6:S16. doi: 10.1186/1471-2164-13-S6-S16. Epub 2012 Oct 26.

21.

Identification of tumor suppressors and oncogenes from genomic and epigenetic features in ovarian cancer.

Wrzeszczynski KO, Varadan V, Byrnes J, Lum E, Kamalakaran S, Levine DA, Dimitrova N, Zhang MQ, Lucito R.

PLoS One. 2011;6(12):e28503. doi: 10.1371/journal.pone.0028503. Epub 2011 Dec 8.

22.

Tumor necrosis factor alpha production from CD8+ T cells mediates oviduct pathological sequelae following primary genital Chlamydia muridarum infection.

Murthy AK, Li W, Chaganty BK, Kamalakaran S, Guentzel MN, Seshu J, Forsthuber TG, Zhong G, Arulanandam BP.

Infect Immun. 2011 Jul;79(7):2928-35. doi: 10.1128/IAI.05022-11. Epub 2011 May 2.

23.

DNA methylation patterns in luminal breast cancers differ from non-luminal subtypes and can identify relapse risk independent of other clinical variables.

Kamalakaran S, Varadan V, Giercksky Russnes HE, Levy D, Kendall J, Janevski A, Riggs M, Banerjee N, Synnestvedt M, Schlichting E, Kåresen R, Shama Prasada K, Rotti H, Rao R, Rao L, Eric Tang MH, Satyamoorthy K, Lucito R, Wigler M, Dimitrova N, Naume B, Borresen-Dale AL, Hicks JB.

Mol Oncol. 2011 Feb;5(1):77-92. doi: 10.1016/j.molonc.2010.11.002. Epub 2010 Dec 2.

24.

PAPAyA: a platform for breast cancer biomarker signature discovery, evaluation and assessment.

Janevski A, Kamalakaran S, Banerjee N, Varadan V, Dimitrova N.

BMC Bioinformatics. 2009 Sep 17;10 Suppl 9:S7. doi: 10.1186/1471-2105-10-S9-S7.

25.

Methylation detection oligonucleotide microarray analysis: a high-resolution method for detection of CpG island methylation.

Kamalakaran S, Kendall J, Zhao X, Tang C, Khan S, Ravi K, Auletta T, Riggs M, Wang Y, Helland A, Naume B, Dimitrova N, Børresen-Dale AL, Hicks J, Lucito R.

Nucleic Acids Res. 2009 Jul;37(12):e89. doi: 10.1093/nar/gkp413. Epub 2009 May 27.

26.

Pro-apoptotic role of NF-kappaB: implications for cancer therapy.

Radhakrishnan SK, Kamalakaran S.

Biochim Biophys Acta. 2006 Aug;1766(1):53-62. Epub 2006 Mar 3. Review.

PMID:
16563635
27.

Identification of estrogen-responsive genes using a genome-wide analysis of promoter elements for transcription factor binding sites.

Kamalakaran S, Radhakrishnan SK, Beck WT.

J Biol Chem. 2005 Jun 3;280(22):21491-7. Epub 2005 Mar 24.

28.

Identification of a novel estrogen response element in the breast cancer resistance protein (ABCG2) gene.

Ee PL, Kamalakaran S, Tonetti D, He X, Ross DD, Beck WT.

Cancer Res. 2004 Feb 15;64(4):1247-51.

Supplemental Content

Loading ...
Support Center