Marc S Greenblatt

Marc S Greenblatt

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Marc S Greenblatt

Marc S Greenblatt

Publications by authors named "Marc S Greenblatt"

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38Publications

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Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework.

Genet Med 2018 09 4;20(9):1054-1060. Epub 2018 Jan 4.

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1038/gim.2017.210DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336098PMC
September 2018

Placing negative multi-gene panel results into clinical context.

Fam Cancer 2017 10;16(4):595

University of Vermont, Burlington, VT, USA.

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http://dx.doi.org/10.1007/s10689-017-9974-0DOI Listing
October 2017

Multi-gene panel testing for hereditary cancer susceptibility in a rural Familial Cancer Program.

Fam Cancer 2017 01;16(1):159-166

Department of Medicine and University of Vermont Cancer Center, University of Vermont College of Medicine, 89 Beaumont Ave, Given E214, Burlington, VT, 05405, USA.

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http://dx.doi.org/10.1007/s10689-016-9913-5DOI Listing
January 2017

Universal Versus Targeted Screening for Lynch Syndrome: Comparing Ascertainment and Costs Based on Clinical Experience.

Dig Dis Sci 2016 10 6;61(10):2887-2895. Epub 2016 Jul 6.

Hematology/Oncology Division, Department of Medicine, University of Vermont College of Medicine, Given Suite E214, 89 Beaumont Avenue, Burlington, VT, 05405, USA.

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http://link.springer.com/10.1007/s10620-016-4218-y
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http://dx.doi.org/10.1007/s10620-016-4218-yDOI Listing
October 2016

HGVS Recommendations for the Description of Sequence Variants: 2016 Update.

Hum Mutat 2016 06 25;37(6):564-9. Epub 2016 Mar 25.

Generade Centre of Expertise Genomics and University of Applied Sciences Leiden, Leiden, The Netherlands.

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http://dx.doi.org/10.1002/humu.22981DOI Listing
June 2016

Sequence Variants of Uncertain Significance: What to Do When Genetic Test Results Are Not Definitive.

Surg Oncol Clin N Am 2015 Oct;24(4):833-46

University of Vermont College of Medicine, Given E214, 89 Beaumont Ave, Burlington, VT 05405, USA. Electronic address:

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http://dx.doi.org/10.1016/j.soc.2015.06.009DOI Listing
October 2015

Germline & somatic mosaicism: the 2014 annual scientific meeting of the Human Genome Variation Society.

Hum Mutat 2015 Mar;36(3):390-3

Department of Experimental and Clinical Pharmacology, University of Minnesota, Minneapolis, Minnesota.

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http://dx.doi.org/10.1002/humu.22757DOI Listing
March 2015

The MLH1 c.-27C>A and c.85G>T variants are linked to dominantly inherited MLH1 epimutation and are borne on a European ancestral haplotype.

Eur J Hum Genet 2014 May 2;22(5):617-24. Epub 2013 Oct 2.

1] Adult Cancer Program, Lowy Cancer Research Centre, Prince of Wales Clinical School, University of New South Wales, Sydney, NSW, Australia [2] Division of Oncology, Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA.

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http://dx.doi.org/10.1038/ejhg.2013.200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3992563PMC
May 2014

Gene variants of unknown clinical significance in Lynch syndrome. An introduction for clinicians.

Fam Cancer 2013 Jun;12(2):181-7

Department of Genetics, University Medical Center Groningen, University of Groningen, Hanzeplein 1, Groningen, The Netherlands.

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http://dx.doi.org/10.1007/s10689-013-9629-8DOI Listing
June 2013

Classifying variants of CDKN2A using computational and laboratory studies.

Hum Mutat 2011 Aug;32(8):900-11

Department of Medicine and Vermont Cancer Center, University of Vermont College of Medicine, Burlington, Vermont 05405, USA.

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http://dx.doi.org/10.1002/humu.21504DOI Listing
August 2011

Mutation clusters offer insight into predicting pathogenicity.

Hum Mutat 2010 Mar;31(3)

Vermont Cancer Center, USA.

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http://doi.wiley.com/10.1002/humu.21218
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http://dx.doi.org/10.1002/humu.21218DOI Listing
March 2010

Planning the human variome project: the Spain report.

Authors:
Jim Kaput Richard G H Cotton Lauren Hardman Michael Watson Aida I Al Aqeel Jumana Y Al-Aama Fahd Al-Mulla Santos Alonso Stefan Aretz Arleen D Auerbach Bharati Bapat Inge T Bernstein Jong Bhak Stacey L Bleoo Helmut Blöcker Steven E Brenner John Burn Mariona Bustamante Rita Calzone Anne Cambon-Thomsen Michele Cargill Paola Carrera Lawrence Cavedon Yoon Shin Cho Yeun-Jun Chung Mireille Claustres Garry Cutting Raymond Dalgleish Johan T den Dunnen Carlos Díaz Steven Dobrowolski M Rosário N dos Santos Rosemary Ekong Simon B Flanagan Paul Flicek Yoichi Furukawa Maurizio Genuardi Ho Ghang Maria V Golubenko Marc S Greenblatt Ada Hamosh John M Hancock Ross Hardison Terence M Harrison Robert Hoffmann Rania Horaitis Heather J Howard Carol Isaacson Barash Neskuts Izagirre Jongsun Jung Toshio Kojima Sandrine Laradi Yeon-Su Lee Jong-Young Lee Vera L Gil-da-Silva-Lopes Finlay A Macrae Donna Maglott Makia J Marafie Steven G E Marsh Yoichi Matsubara Ludwine M Messiaen Gabriela Möslein Mihai G Netea Melissa L Norton Peter J Oefner William S Oetting James C O'Leary Ana Maria Oller de Ramirez Mark H Paalman Jillian Parboosingh George P Patrinos Giuditta Perozzi Ian R Phillips Sue Povey Suyash Prasad Ming Qi David J Quin Rajkumar S Ramesar C Sue Richards Judith Savige Dagmar G Scheible Rodney J Scott Daniela Seminara Elizabeth A Shephard Rolf H Sijmons Timothy D Smith María-Jesús Sobrido Toshihiro Tanaka Sean V Tavtigian Graham R Taylor Jon Teague Thoralf Töpel Mollie Ullman-Cullere Joji Utsunomiya Henk J van Kranen Mauno Vihinen Elizabeth Webb Thomas K Weber Meredith Yeager Young I Yeom Seon-Hee Yim Hyang-Sook Yoo

Hum Mutat 2009 Apr;30(4):496-510

Division of Personalised Nutrition and Medicine, FDA/National Center for Toxicological Research, Jefferson, Arkansas 72079, USA.

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http://compbio.berkeley.edu/people/brenner/pubs/kaput-2009-h
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http://doi.wiley.com/10.1002/humu.20972
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http://dx.doi.org/10.1002/humu.20972DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5879779PMC
April 2009

Genetic evidence and integration of various data sources for classifying uncertain variants into a single model.

Hum Mutat 2008 Nov;29(11):1265-72

Department of Dermatology, University of Utah School of Medicine, Salt Lake City, Utah 84132-2409, USA.

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http://dx.doi.org/10.1002/humu.20897DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2936773PMC
November 2008

In silico analysis of missense substitutions using sequence-alignment based methods.

Hum Mutat 2008 Nov;29(11):1327-36

International Agency for Research on Cancer (IARC), Lyon, France.

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http://dx.doi.org/10.1002/humu.20892DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3431198PMC
November 2008

Assessment of functional effects of unclassified genetic variants.

Hum Mutat 2008 Nov;29(11):1314-26

Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota 55905, USA.

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http://dx.doi.org/10.1002/humu.20899DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2771414PMC
November 2008

An automated procedure to identify biomedical articles that contain cancer-associated gene variants.

Hum Mutat 2006 Sep;27(9):957-64

Department of Computer and Information Science, University of Pennsylvania, Philadelphia, USA.

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http://dx.doi.org/10.1002/humu.20363DOI Listing
September 2006

Phase I/II trial of paclitaxel and vinorelbine in advanced non-small cell lung cancer.

Cancer Invest 2005 ;23(5):392-8

Division of Hematology/Oncology, University of Vermont, Burlington, Vermont, USA.

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http://dx.doi.org/10.1081/cnv-67137DOI Listing
October 2005

The CDKN2A database: Integrating allelic variants with evolution, structure, function, and disease association.

Hum Mutat 2004 Oct;24(4):296-304

Vermont Cancer Center, Department of Microbiology and Molecular Genetics, University of Vermont, Burlington, Vermont 05401, USA.

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http://dx.doi.org/10.1002/humu.20083DOI Listing
October 2004