Sitharthan Kamalakaran

Sitharthan Kamalakaran

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Sitharthan Kamalakaran

Sitharthan Kamalakaran

Publications by authors named "Sitharthan Kamalakaran"

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

Am J Hum Genet 2019 Feb 24;104(2):299-309. Epub 2019 Jan 24.

Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA; Division of Integrative Genomics, Department of Biostatistics and Bioinformatics, Duke University, Durham, NC 27710, USA; Duke Center for Statistical Genetics and Genomics, Duke University, Durham, NC 27710, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.12.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369453PMC
February 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

Diagnostic Utility of Exome Sequencing for Kidney Disease.

N Engl J Med 2019 01 26;380(2):142-151. Epub 2018 Dec 26.

From the Departments of Medicine (E.E.G., M.M., H.M.-R., Y.L., J.Z., J.N., P.K., W.Y.L., A.M., S. Piva, B.H.K., D.C., R.R., D.B., M.D., H.S., X.M., K.M., O.B., J.R., P.C., G.B.A., A.S.B., W.A., D.J.C., R.J.C., G.K.D., M.K.R., S.M., S.S.-C., K.K., A.G.G.) and Pediatrics (N.S.U.), Division of Nephrology, the Departments of Pathology (V.S.A.), Biomedical Informatics (D.A.F., C.W.), and Urology (S.A.), the Institute for Genomic Medicine (S.K., B.C., Z.R., J.B., C.D.M., C.M.M., N.D., D.B.G., A.G.G.) and the Department of Genetics and Development (D.B.G.), Hammer Health Sciences, and the Department of Epidemiology, Mailman School of Public Health (S.M.), Columbia University, New York; AstraZeneca Centre for Genomics Research, Precision Medicine and Genomics, Innovative Medicines and Early Development (IMED) Biotech Unit, Cambridge, United Kingdom (S.C.-C., S. Petrovski, C.H., J.F., R.M., A.P.); and the Department of Medical Science, Renal Unit, Uppsala University Hospital, Uppsala, Sweden (B.C.F.).

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http://www.nejm.org/doi/10.1056/NEJMoa1806891
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http://dx.doi.org/10.1056/NEJMoa1806891DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6510541PMC
January 2019

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

Ann Clin Transl Neurol 2018 Jul 24;5(7):832-842. Epub 2018 May 24.

The Taub Institute for Research on Alzheimer's Disease and the Aging Brain College of Physicians and Surgeons Columbia University The New York Presbyterian Hospital New York New York.

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http://dx.doi.org/10.1002/acn3.582DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6043775PMC
July 2018

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

Authors:
Aude Nicolas Kevin P Kenna Alan E Renton Nicola Ticozzi Faraz Faghri Ruth Chia Janice A Dominov Brendan J Kenna Mike A Nalls Pamela Keagle Alberto M Rivera Wouter van Rheenen Natalie A Murphy Joke J F A van Vugt Joshua T Geiger Rick A Van der Spek Hannah A Pliner Shankaracharya Bradley N Smith Giuseppe Marangi Simon D Topp Yevgeniya Abramzon Athina Soragia Gkazi John D Eicher Aoife Kenna Gabriele Mora Andrea Calvo Letizia Mazzini Nilo Riva Jessica Mandrioli Claudia Caponnetto Stefania Battistini Paolo Volanti Vincenzo La Bella Francesca L Conforti Giuseppe Borghero Sonia Messina Isabella L Simone Francesca Trojsi Fabrizio Salvi Francesco O Logullo Sandra D'Alfonso Lucia Corrado Margherita Capasso Luigi Ferrucci Cristiane de Araujo Martins Moreno Sitharthan Kamalakaran David B Goldstein Aaron D Gitler Tim Harris Richard M Myers Hemali Phatnani Rajeeva Lochan Musunuri Uday Shankar Evani Avinash Abhyankar Michael C Zody Julia Kaye Steven Finkbeiner Stacia K Wyman Alex LeNail Leandro Lima Ernest Fraenkel Clive N Svendsen Leslie M Thompson Jennifer E Van Eyk James D Berry Timothy M Miller Stephen J Kolb Merit Cudkowicz Emily Baxi Michael Benatar J Paul Taylor Evadnie Rampersaud Gang Wu Joanne Wuu Giuseppe Lauria Federico Verde Isabella Fogh Cinzia Tiloca Giacomo P Comi Gianni Sorarù Cristina Cereda Philippe Corcia Hannu Laaksovirta Liisa Myllykangas Lilja Jansson Miko Valori John Ealing Hisham Hamdalla Sara Rollinson Stuart Pickering-Brown Richard W Orrell Katie C Sidle Andrea Malaspina John Hardy Andrew B Singleton Janel O Johnson Sampath Arepalli Peter C Sapp Diane McKenna-Yasek Meraida Polak Seneshaw Asress Safa Al-Sarraj Andrew King Claire Troakes Caroline Vance Jacqueline de Belleroche Frank Baas Anneloor L M A Ten Asbroek José Luis Muñoz-Blanco Dena G Hernandez Jinhui Ding J Raphael Gibbs Sonja W Scholz Mary Kay Floeter Roy H Campbell Francesco Landi Robert Bowser Stefan M Pulst John M Ravits Daniel J L MacGowan Janine Kirby Erik P Pioro Roger Pamphlett James Broach Glenn Gerhard Travis L Dunckley Christopher B Brady Neil W Kowall Juan C Troncoso Isabelle Le Ber Kevin Mouzat Serge Lumbroso Terry D Heiman-Patterson Freya Kamel Ludo Van Den Bosch Robert H Baloh Tim M Strom Thomas Meitinger Aleksey Shatunov Kristel R Van Eijk Mamede de Carvalho Maarten Kooyman Bas Middelkoop Matthieu Moisse Russell L McLaughlin Michael A Van Es Markus Weber Kevin B Boylan Marka Van Blitterswijk Rosa Rademakers Karen E Morrison A Nazli Basak Jesús S Mora Vivian E Drory Pamela J Shaw Martin R Turner Kevin Talbot Orla Hardiman Kelly L Williams Jennifer A Fifita Garth A Nicholson Ian P Blair Guy A Rouleau Jesús Esteban-Pérez Alberto García-Redondo Ammar Al-Chalabi Ekaterina Rogaeva Lorne Zinman Lyle W Ostrow Nicholas J Maragakis Jeffrey D Rothstein Zachary Simmons Johnathan Cooper-Knock Alexis Brice Stephen A Goutman Eva L Feldman Summer B Gibson Franco Taroni Antonia Ratti Cinzia Gellera Philip Van Damme Wim Robberecht Pietro Fratta Mario Sabatelli Christian Lunetta Albert C Ludolph Peter M Andersen Jochen H Weishaupt William Camu John Q Trojanowski Vivianna M Van Deerlin Robert H Brown Leonard H van den Berg Jan H Veldink Matthew B Harms Jonathan D Glass David J Stone Pentti Tienari Vincenzo Silani Adriano Chiò Christopher E Shaw Bryan J Traynor John E Landers

Neuron 2018 03;97(6):1268-1283.e6

Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2018.02.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5867896PMC
March 2018

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

Antimicrob Agents Chemother 2014 Aug 9;58(8):4848-54. Epub 2014 Jun 9.

Department of Pathology, New York Medical College, Valhalla, New York, USA Department of Medicine, New York Medical College, Valhalla, New York, USA Department of Pathology and Clinical Laboratories, Westchester Medical Center, Valhalla, New York, USA.

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http://aac.asm.org/content/58/8/4848.full.pdf
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http://aac.asm.org/cgi/doi/10.1128/AAC.02683-14
Publisher Site
http://dx.doi.org/10.1128/AAC.02683-14DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4136069PMC
August 2014

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

BMC Genomics 2012 26;13 Suppl 6:S16. Epub 2012 Oct 26.

Philips Research, 345 Scarborough Rd, Briarcliff Manor, NY 10510, USA.

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http://dx.doi.org/10.1186/1471-2164-13-S6-S16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3481445PMC
April 2013

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

Front Oncol 2012 27;2:197. Epub 2012 Dec 27.

Cold Spring Harbor Laboratory Cold Spring Harbor, NY, USA ; Department of Oncology, Clinical Sciences, Lund University Lund, Sweden.

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http://journal.frontiersin.org/article/10.3389/fonc.2012.001
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http://dx.doi.org/10.3389/fonc.2012.00197DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3530719PMC
January 2013

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

BMC Bioinformatics 2009 Sep 17;10 Suppl 9:S7. Epub 2009 Sep 17.

Philips Research North America, 345 Scarborough Road, Briarcliff Manor, NY10510, USA.

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http://dx.doi.org/10.1186/1471-2105-10-S9-S7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2745694PMC
September 2009

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

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

Department of Medicine, University of Illinois at Chicago, Chicago, IL 60612, USA.

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http://dx.doi.org/10.1016/j.bbcan.2006.02.001DOI Listing
August 2006

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

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

Department of Biochemistry and Molecular Genetics, University of Illinois at Chicago, Chicago, Illinois 60612, USA.

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http://dx.doi.org/10.1074/jbc.M409176200DOI Listing
June 2005

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

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

Department of Biopharmaceutical Sciences, University of Illinois at Chicago, 833 South Wood, Chicago, IL 60612, USA.

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http://www.uic.edu/labs/bcrlab/content/users/preiter/tonetti
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February 2004