Heidi L Rehm

Heidi L Rehm

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Heidi L Rehm

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The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results.

Am J Hum Genet 2019 Apr;104(4):578-595

Social Issues Committee, American Society of Human Genetics, Rockville, MD 20852, USA; Division of General Internal Medicine, Department of Medicine, Johns Hopkins University, Baltimore, MD 21205, USA; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD 21205, USA.

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http://dx.doi.org/10.1016/j.ajhg.2019.02.025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6451731PMC
April 2019

A Rigorous Interlaboratory Examination of the Need to Confirm Next-Generation Sequencing-Detected Variants with an Orthogonal Method in Clinical Genetic Testing.

J Mol Diagn 2019 Mar 3;21(2):318-329. Epub 2019 Jan 3.

Laboratory for Molecular Medicine, Partners HealthCare, Cambridge, Massachusetts; Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts; Harvard Medical School, Boston, Massachusetts; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts.

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http://dx.doi.org/10.1016/j.jmoldx.2018.10.009DOI Listing
March 2019

Introduction of genomics into prenatal diagnostics.

Lancet 2019 02 31;393(10173):719-721. Epub 2019 Jan 31.

Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Pathology, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Pathology, Brigham & Women's Hospital and Harvard Medical School, Boston, MA, USA; Program in Medical and Population Genetics, Stanley Center for Psychiatric Research and Clinical Research Sequencing Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.

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http://dx.doi.org/10.1016/S0140-6736(19)30193-XDOI Listing
February 2019

Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project.

Am J Hum Genet 2019 Jan;104(1):76-93

Harvard Medical School, Boston, MA 02115, USA; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.11.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323417PMC
January 2019

Response to Biesecker and Harrison.

Genet Med 2018 12;20(12):1689-1690

Partners Laboratory for Molecular Medicine and Department of Pathology, Brigham & Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/gim.2018.43DOI Listing
December 2018

Curating Clinically Relevant Transcripts for the Interpretation of Sequence Variants.

J Mol Diagn 2018 11 8;20(6):789-801. Epub 2018 Aug 8.

Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, The University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania; Genetics Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S15251578183009
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http://dx.doi.org/10.1016/j.jmoldx.2018.06.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6204605PMC
November 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

Distinguishing Variant Pathogenicity From Genetic Diagnosis: How to Know Whether a Variant Causes a Condition.

JAMA 2018 Nov;320(18):1929-1930

Center for Genomic Medicine, Massachusetts General Hospital, Boston.

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http://jama.jamanetwork.com/article.aspx?doi=10.1001/jama.20
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http://dx.doi.org/10.1001/jama.2018.14900DOI Listing
November 2018

Analysis of intragenic USH2A copy number variation unveils broad spectrum of unique and recurrent variants.

Eur J Med Genet 2018 Oct 12;61(10):621-626. Epub 2018 Apr 12.

Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, MA 02129, USA; Department of Pathology, Brigham & Women's Hospital and Harvard Medical School, Boston, MA 02115, USA.

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http://dx.doi.org/10.1016/j.ejmg.2018.04.006DOI Listing
October 2018

The Ancestral Pace of Variant Reclassification.

J Natl Cancer Inst 2018 Oct;110(10):1133-1134

Center for Genomic Medicine and Departments of Medicine and Pathology, Massachusetts General Hospital, Boston, MA.

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http://dx.doi.org/10.1093/jnci/djy075DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6186517PMC
October 2018

Reclassification of the p.Ile208Val variant by case-level data sharing.

Cold Spring Harb Mol Case Stud 2018 10 1;4(5). Epub 2018 Oct 1.

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

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http://molecularcasestudies.cshlp.org/lookup/doi/10.1101/mcs
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http://dx.doi.org/10.1101/mcs.a002675DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6169827PMC
October 2018

Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract.

J Am Soc Nephrol 2018 Sep 24;29(9):2348-2361. Epub 2018 Aug 24.

Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts;

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http://www.jasn.org/lookup/doi/10.1681/ASN.2017121265
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http://dx.doi.org/10.1681/ASN.2017121265DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6115658PMC
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

Automated typing of red blood cell and platelet antigens: a whole-genome sequencing study.

Lancet Haematol 2018 Jun 17;5(6):e241-e251. Epub 2018 May 17.

Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA; Partners Personalized Medicine, Boston, MA, USA; Broad Institute of Massachusetts Institute of Technology and Harvard, Boston, MA, USA.

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http://dx.doi.org/10.1016/S2352-3026(18)30053-XDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6438177PMC
June 2018

Lack Of Diversity In Genomic Databases Is A Barrier To Translating Precision Medicine Research Into Practice.

Health Aff (Millwood) 2018 05;37(5):780-785

Vence L. Bonham is an associate investigator in the Social and Behavioral Research Branch, Division of Intramural Research, and senior adviser to the director on genomics and health disparities at the National Human Genome Research Institute, National Institutes of Health, in Bethesda, Maryland.

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http://dx.doi.org/10.1377/hlthaff.2017.1595DOI Listing
May 2018

Association of Racial/Ethnic Categories With the Ability of Genetic Tests to Detect a Cause of Cardiomyopathy.

JAMA Cardiol 2018 Apr;3(4):341-345

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

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http://dx.doi.org/10.1001/jamacardio.2017.5333DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5875303PMC
April 2018

Peter Bauer, Ellen Karges, Gabriela Oprea and Arndt Rolfs.

Authors:
Heidi L Rehm

Genet Med 2018 03 2;20(3):378-379. Epub 2017 Nov 2.

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

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http://dx.doi.org/10.1038/gim.2017.179DOI Listing
March 2018

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

Prenatal DNA Sequencing: Clinical, Counseling, and Diagnostic Laboratory Considerations.

Prenat Diagn 2018 01 17;38(1):26-32. Epub 2017 Apr 17.

Mother Infant Research Institute, Tufts Medical Center, Boston, MA, USA.

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http://dx.doi.org/10.1002/pd.5038DOI Listing
January 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

Evaluation: A Qualitative Pilot Study of Novel Information Technology Infrastructure to Communicate Genetic Variant Updates.

Appl Clin Inform 2016 1;7(2):461-76. Epub 2016 Jun 1.

Clinical and Quality Analysis, Partners HealthCare System, Wellesley, MA; Harvard Medical School, Boston, MA; Brigham and Women's Hospital, Boston, MA.

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http://dx.doi.org/10.4338/ACI-2015-11-RA-0162DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4941853PMC
November 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

A new era in the interpretation of human genomic variation.

Authors:
Heidi L Rehm

Genet Med 2017 10 13;19(10):1092-1095. Epub 2017 Jul 13.

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

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http://dx.doi.org/10.1038/gim.2017.90DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6543848PMC
October 2017

A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients.

Circ Cardiovasc Genet 2017 Oct;10(5)

From the Cardiovascular Division (A.L.C., N.K.L., B.M., D.A., M.W., P.O., C.A.M., C.E.S., C.Y.H.), Department of Pathology (H.L.R.), and Division of Genetics (C.B., R.C.G., C.A.M.), Brigham and Women's Hospital, Boston, MA; Harvard Medical School, Boston, MA (N.K.L., B.M., D.A., M.W., P.O., H.L.R., R.C.G., C.A.M., C.E.S., C.Y.H.); Albany Medical College, NY (L.C.); Broad Institute of Harvard and MIT, Cambridge, MA (H.L.R., R.C.G., C.A.M.); Laboratory for Molecular Medicine (H.L.R., K.M., M.L.), Leadership Team (R.C.G.), Partners HealthCare Personalized Medicine, Cambridge, MA; and Howard Hughes Medical Institute, Chevy Chase, MD (C.E.S.).

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http://dx.doi.org/10.1161/CIRCGENETICS.117.001768DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5683423PMC
October 2017

Matchmaker Exchange.

Curr Protoc Hum Genet 2017 10 18;95:9.31.1-9.31.15. Epub 2017 Oct 18.

The Broad Institute of MIT and Harvard, Cambridge, Massachusetts.

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http://dx.doi.org/10.1002/cphg.50DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6016856PMC
October 2017

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

A curated gene list for reporting results of newborn genomic sequencing.

Genet Med 2017 07 12;19(7):809-818. Epub 2017 Jan 12.

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

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http://dx.doi.org/10.1038/gim.2016.193DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5507765PMC
July 2017

Using large sequencing data sets to refine intragenic disease regions and prioritize clinical variant interpretation.

Genet Med 2017 05 22;19(5):496-504. Epub 2016 Sep 22.

Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1038/gim.2016.134DOI Listing
May 2017

Evolving health care through personal genomics.

Authors:
Heidi L Rehm

Nat Rev Genet 2017 04 31;18(4):259-267. Epub 2017 Jan 31.

Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA; at the Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts 02139, USA; and at The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.

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http://dx.doi.org/10.1038/nrg.2016.162DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6517837PMC
April 2017

Rapid access to genetic discoveries underlying human disease.

Authors:
Heidi L Rehm

Cold Spring Harb Mol Case Stud 2016 11;2(6):a001545

Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA; Partners Healthcare Laboratory for Molecular Medicine, Cambridge, Massachusetts 02139, USA; and Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.

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http://dx.doi.org/10.1101/mcs.a001545DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5111010PMC
November 2016

Genetic Misdiagnoses and the Potential for Health Disparities.

N Engl J Med 2016 Aug;375(7):655-65

From the Departments of Biomedical Informatics (A.K.M., D.M.M., I.S.K.), Pathology (B.H.F.), and Medicine (B.A.M., J.L.), Harvard Medical School, the Departments of Pathology, Massachusetts General Hospital (B.H.F.), and the Department of Pathology (H.L.R.), Division of Cardiovascular Medicine (B.A.M.), and Department of Medicine (B.A.M., J.L.), Brigham and Women's Hospital, Boston, and the Division of Health Sciences and Technology, Harvard-Massachusetts Institute of Technology (MIT) (A.K.M., I.S.K.), the Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine (B.H.F., H.L.R.), and the Computer Science and Artificial Intelligence Laboratory, MIT (P.S.), Cambridge - all in Massachusetts; and the Laboratory of Molecular Cardiology, Department of Cardiology, the Heart Center, University Hospital of Copenhagen, Rigshospitalet, and the Department of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen (M.S.O.) - both in Copenhagen.

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http://dx.doi.org/10.1056/NEJMsa1507092DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5292722PMC
August 2016

VisCap: inference and visualization of germ-line copy-number variants from targeted clinical sequencing data.

Genet Med 2016 07 17;18(7):712-9. Epub 2015 Dec 17.

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

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http://dx.doi.org/10.1038/gim.2015.156DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4940431PMC
July 2016

Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing-based diagnostic testing and interpretation.

Genet Med 2016 06 12;18(6):545-53. Epub 2015 Nov 12.

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

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http://dx.doi.org/10.1038/gim.2015.141DOI Listing
June 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

Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus.

Hum Mutat 2016 Jan 29;37(1):119-26. Epub 2015 Oct 29.

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

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http://doi.wiley.com/10.1002/humu.22912
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http://dx.doi.org/10.1002/humu.22912DOI Listing
January 2016

The Changing Landscape of Molecular Diagnostic Testing: Implications for Academic Medical Centers.

J Pers Med 2016 Jan 27;6(1). Epub 2016 Jan 27.

Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Boston, MA 02139, USA.

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http://dx.doi.org/10.3390/jpm6010008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4810387PMC
January 2016

ClinGen and Genetic Testing.

N Engl J Med 2015 10;373(14):1379

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http://www.nejm.org/doi/10.1056/NEJMc1508700
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http://dx.doi.org/10.1056/NEJMc1508700DOI Listing
October 2015

Building the foundation for genomics in precision medicine.

Nature 2015 Oct;526(7573):336-42

Partners HealthCare Personalized Medicine, Boston, Massachusetts 02115, USA.

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http://dx.doi.org/10.1038/nature15816DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5669797PMC
October 2015

Summarizing polygenic risks for complex diseases in a clinical whole-genome report.

Genet Med 2015 Jul 23;17(7):536-44. Epub 2014 Oct 23.

1] Harvard Medical School, Boston, Massachusetts, USA [2] Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA [3] Cardiovascular Division, Brigham and Women's Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/gim.2014.143DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4547452PMC
July 2015

ClinGen--the Clinical Genome Resource.

N Engl J Med 2015 06 27;372(23):2235-42. Epub 2015 May 27.

From Harvard Medical School and Brigham and Women's Hospital and Partners HealthCare - all in Boston (H.L.R.); University of North Carolina, Chapel Hill (J.S.B., J.P.E.); National Human Genome Research Institute, National Institutes of Health (NIH) (L.D.B., E.M.R.), National Center for Biotechnology Information, National Library of Medicine, NIH (M.J.L., D.R.M., S.T.S.), and American College of Medical Genetics and Genomics (M.S.W.) - all in Bethesda, MD; Stanford University School of Medicine, Stanford (C.D.B.), and University of California, San Francisco, San Francisco (R.L.N.) - both in California; Geisinger Health System, Danville, PA (D.H.L., C.L.M.); and Baylor College of Medicine, Houston (S.E.P.).

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http://dx.doi.org/10.1056/NEJMsr1406261DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4474187PMC
June 2015

Comprehensive diagnostic testing for stereocilin: an approach for analyzing medically important genes with high homology.

J Mol Diagn 2014 Nov 23;16(6):639-47. Epub 2014 Aug 23.

Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts; Department of Pathology, Harvard Medical School, Massachusetts General Hospital, Boston, Massachusetts. Electronic address:

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http://dx.doi.org/10.1016/j.jmoldx.2014.06.003DOI Listing
November 2014