Steven M Harrison

Steven M Harrison

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Steven M Harrison

Steven M Harrison

Publications by authors named "Steven M Harrison"

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Overview of Specifications to the ACMG/AMP Variant Interpretation Guidelines.

Curr Protoc Hum Genet 2019 Sep;103(1):e93

Broad Institute of MIT and Harvard, Cambridge, Massachusetts.

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http://dx.doi.org/10.1002/cphg.93DOI Listing
September 2019

Insulin-Like Peptide 3 (INSL3) Serum Concentration During Human Male Fetal Life.

Front Endocrinol (Lausanne) 2019 4;10:596. Epub 2019 Sep 4.

John W. Duckett MD Laboratory in Pediatric Urology, Division of Pediatric Urology, Department of Urology, University of Texas Southwestern Medical Center, Dallas, TX, United States.

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http://dx.doi.org/10.3389/fendo.2019.00596DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6737488PMC
September 2019

Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture.

Am J Hum Genet 2019 Jan;104(1):187-190

Cardiovascular Genetics and Genomics, National Heart and Lung Institute, Imperial College Centre for Translational and Experimental Medicine, London, W12 0NN, UK; National Institute for Health Research Royal Brompton Cardiovascular Research Centre, Royal Brompton and Harefield National Health Service Foundation Trust, London, SW7 2AZ, UK; Medical Research Council London Institute of Medical Sciences, Imperial College London, London, W12 0NN, UK; Program in Medical and Population Genetics, Broad Institute of the Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.11.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323549PMC
January 2019

The ACMG/AMP reputable source criteria for the interpretation of sequence variants.

Genet Med 2018 12;20(12):1687-1688

Partners HealthCare Laboratory for Molecular Medicine and Harvard Medical School, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/gim.2018.42DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6709533PMC
December 2018

Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion.

Hum Mutat 2018 11 7;39(11):1517-1524. Epub 2018 Sep 7.

Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts.

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http://dx.doi.org/10.1002/humu.23626DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6185798PMC
November 2018

Updated recommendation for the benign stand-alone ACMG/AMP criterion.

Hum Mutat 2018 11;39(11):1525-1530

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

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http://dx.doi.org/10.1002/humu.23642DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6188666PMC
November 2018

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

ClinVar Miner: Demonstrating utility of a Web-based tool for viewing and filtering ClinVar data.

Hum Mutat 2018 08 21;39(8):1051-1060. Epub 2018 Jun 21.

Department of Biomedical Informatics, University of Utah School of Medicine, Salt Lake City, Utah.

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http://dx.doi.org/10.1002/humu.23555DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6043391PMC
August 2018

ClinVar Is a Critical Resource to Advance Variant Interpretation.

Oncologist 2017 12 29;22(12):1562. Epub 2017 Aug 29.

Geisinger Health System, Danville, Pennsylvania, USA.

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http://dx.doi.org/10.1634/theoncologist.2017-0246DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5728032PMC
December 2017

Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.

Genet Med 2017 10 16;19(10):1096-1104. Epub 2017 Mar 16.

Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, Massachusetts, USA.

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http://dx.doi.org/10.1038/gim.2017.14DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5600649PMC
October 2017

Using ClinVar as a Resource to Support Variant Interpretation.

Curr Protoc Hum Genet 2016 Apr 1;89:8.16.1-8.16.23. Epub 2016 Apr 1.

Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, Massachusetts.

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http://dx.doi.org/10.1002/0471142905.hg0816s89DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4832236PMC
April 2016

DNA copy number variations in patients with 46,XY disorders of sex development.

J Urol 2014 Dec 16;192(6):1801-6. Epub 2014 Jun 16.

Department of Urology, University of Texas Southwestern Medical Center, Dallas, Texas; McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, Texas. Electronic address:

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http://dx.doi.org/10.1016/j.juro.2014.06.040DOI Listing
December 2014

DNA copy number variations in patients with persistent cloaca.

J Urol 2014 May 26;191(5 Suppl):1543-6. Epub 2014 Mar 26.

Department of Urology, University of Texas Southwestern Medical Center, Dallas, Texas; McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, Texas. Electronic address:

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http://dx.doi.org/10.1016/j.juro.2013.09.056DOI Listing
May 2014

Genetic abnormalities in FOXP1 are associated with congenital heart defects.

Hum Mutat 2013 Sep 11;34(9):1226-30. Epub 2013 Jul 11.

Center for Cardiovascular and Pulmonary Research and The Heart Center, Nationwide Children's Hospital, Columbus, Ohio, USA.

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http://dx.doi.org/10.1002/humu.22366DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5717756PMC
September 2013

Genetic basis of prune belly syndrome: screening for HNF1β gene.

J Urol 2012 Jan 23;187(1):272-8. Epub 2011 Nov 23.

Department of Urology, University of Texas Southwestern, Dallas, Texas, USA.

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http://dx.doi.org/10.1016/j.juro.2011.09.036DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3399512PMC
January 2012