Publications by authors named "Danielle R Azzariti"

18Publications

Genomic Data Sharing for Novel Mendelian Disease Gene Discovery: The Matchmaker Exchange.

Annu Rev Genomics Hum Genet 2020 Aug 27;21:305-326. Epub 2020 Apr 27.

McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland 21287, USA; email:

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http://dx.doi.org/10.1146/annurev-genom-083118-014915DOI Listing
August 2020

Analyzing and Reanalyzing the Genome: Findings from the MedSeq Project.

Am J Hum Genet 2019 07 27;105(1):177-188. Epub 2019 Jun 27.

Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, MA 02139, USA; Department of Pathology, Brigham & Women's Hospital, Boston, MA 02115, USA; Harvard Medical School, Boston, MA 02115, USA; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.05.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6612528PMC
July 2019

Points to consider for sharing variant-level information from clinical genetic testing with ClinVar.

Cold Spring Harb Mol Case Stud 2018 02 1;4(1). Epub 2018 Feb 1.

Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, Massachusetts 02139, USA.

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http://dx.doi.org/10.1101/mcs.a002345DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5793773PMC
February 2018

The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial.

Ann Intern Med 2017 08 27;167(3):159-169. Epub 2017 Jun 27.

From VA Boston Healthcare System, Brigham and Women's Hospital, Harvard Medical School, and Partners HealthCare Personalized Medicine, Boston, Massachusetts; Baylor College of Medicine and UTHealth School of Public Health, Houston, Texas; Oregon Health & Science University, Portland, Oregon; Broad Institute of MIT and Harvard, Cambridge, Massachusetts; and Geisinger Health System, Danville, Pennsylvania.

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http://dx.doi.org/10.7326/M17-0188DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5856654PMC
August 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

Determinants of white matter hyperintensity burden in patients with Fabry disease.

Neurology 2016 May 20;86(20):1880-6. Epub 2016 Apr 20.

From the J. Philip Kistler Stroke Research Center, Department of Neurology (N.S.R., L.C., A.S.K., K.M.F.), and the Center for Human Genetic Research, Department of Neurology (N.S.R., D.R.A., V.C., K.B.S.), Massachusetts General Hospital, Boston; Neurogenetics Unit (C.M.L.), School of Medicine of Riberirao Preto, University of São Paulo, Brazil; Division of Medical Genetics (D.P.G.), University of Versailles-St Quentin en Yvelines Paris-Saclay University, France; Fundación para el Estudio de las Enfermedades Neurometabólicas (FESEN) (J.M.P.), Buenos Aires, Argentina; and Departments of Neuroradiology (G.A.H.) and Neurology (C.S., N.Ü.), Fabry Center for Interdisciplinary Therapy (FAZIT) (C.S., N.Ü.), University of Würzburg, Germany.

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http://dx.doi.org/10.1212/WNL.0000000000002673DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4873685PMC
May 2016

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