Marc Greenblatt

Marc Greenblatt

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Marc Greenblatt

Marc Greenblatt

Publications by authors named "Marc Greenblatt"

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47Publications

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Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database.

Genet Med 2019 Jul 24. Epub 2019 Jul 24.

Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.

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http://dx.doi.org/10.1038/s41436-019-0596-9DOI Listing
July 2019

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

Non-Coding Variation: The 2016 Annual Scientific Meeting of the Human Genome Variation Society.

Hum Mutat 2017 04 14;38(4):460-463. Epub 2017 Feb 14.

Division of Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.

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http://dx.doi.org/10.1002/humu.23169DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6546288PMC
April 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

Spindle microtubule dysfunction and cancer predisposition.

J Cell Physiol 2014 Dec;229(12):1881-3

Vermont Cancer Center and Department of Molecular Physiology and Biophysics, University of Vermont College of Medicine, Burlington, Vermont.

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http://dx.doi.org/10.1002/jcp.24691DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4149604PMC
December 2014

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

Colonic ganglioneuromatous polyposis and metastatic adenocarcinoma in the setting of Cowden syndrome: a case report and literature review.

Hum Pathol 2012 Apr 21;43(4):601-4. Epub 2011 Oct 21.

Department of Medicine, Mount Sinai School of Medicine, New York, NY, USA.

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http://dx.doi.org/10.1016/j.humpath.2011.06.022DOI Listing
April 2012

Familial multiple pilomatrixomas as a presentation of attenuated adenomatosis polyposis coli.

J Cutan Pathol 2012 Apr 12;39(4):440-3. Epub 2011 Dec 12.

Department of Medicine, Mount Sinai School of Medicine, New York, NY, USA.

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http://dx.doi.org/10.1111/j.1600-0560.2011.01836.xDOI Listing
April 2012

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

Uncertain pathogenicity of MSH2 variants N127S and G322D challenges their classification.

Int J Cancer 2008 Aug;123(3):720-4

Department of Biological and Environmental Sciences, Genetics, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1002/ijc.23573DOI Listing
August 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