Publications by authors named "Heidi Rehm"

100Publications

Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.

Authors:
Dervla M Connaughton Rufeng Dai Danielle J Owen Jonathan Marquez Nina Mann Adda L Graham-Paquin Makiko Nakayama Etienne Coyaud Estelle M N Laurent Jonathan R St-Germain Lot Snijders Blok Arianna Vino Verena Klämbt Konstantin Deutsch Chen-Han Wilfred Wu Caroline M Kolvenbach Franziska Kause Isabel Ottlewski Ronen Schneider Thomas M Kitzler Amar J Majmundar Florian Buerger Ana C Onuchic-Whitford Mao Youying Amy Kolb Daanya Salmanullah Evan Chen Amelie T van der Ven Jia Rao Hadas Ityel Steve Seltzsam Johanna M Rieke Jing Chen Asaf Vivante Daw-Yang Hwang Stefan Kohl Gabriel C Dworschak Tobias Hermle Mariëlle Alders Tobias Bartolomaeus Stuart B Bauer Michelle A Baum Eva H Brilstra Thomas D Challman Jacob Zyskind Carrie E Costin Katrina M Dipple Floor A Duijkers Marcia Ferguson David R Fitzpatrick Roger Fick Ian A Glass Peter J Hulick Antonie D Kline Ilona Krey Selvin Kumar Weining Lu Elysa J Marco Ingrid M Wentzensen Heather C Mefford Konrad Platzer Inna S Povolotskaya Juliann M Savatt Natalia V Shcherbakova Prabha Senguttuvan Audrey E Squire Deborah R Stein Isabelle Thiffault Victoria Y Voinova Michael J G Somers Michael A Ferguson Avram Z Traum Ghaleb H Daouk Ankana Daga Nancy M Rodig Paulien A Terhal Ellen van Binsbergen Loai A Eid Velibor Tasic Hila Milo Rasouly Tze Y Lim Dina F Ahram Ali G Gharavi Heiko M Reutter Heidi L Rehm Daniel G MacArthur Monkol Lek Kristen M Laricchia Richard P Lifton Hong Xu Shrikant M Mane Simone Sanna-Cherchi Andrew D Sharrocks Brian Raught Simon E Fisher Maxime Bouchard Mustafa K Khokha Shirlee Shril Friedhelm Hildebrandt

Am J Hum Genet 2020 Oct 4;107(4):727-742. Epub 2020 Sep 4.

Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.08.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7536580PMC
October 2020

Management of Secondary Genomic Findings.

Am J Hum Genet 2020 07;107(1):3-14

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.ajhg.2020.05.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7332641PMC
July 2020

Diagnoses of uncertain significance: kidney genetics in the 21st century.

Nat Rev Nephrol 2020 Nov;16(11):616-618

Department of Renal Medicine, University College London, London, UK.

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http://dx.doi.org/10.1038/s41581-020-0277-6DOI Listing
November 2020

New Year's resolution: one meeting-free week a quarter.

Authors:
Heidi Rehm

Nature 2020 01;577(7789):147

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http://dx.doi.org/10.1038/d41586-019-03953-yDOI Listing
January 2020

Keeping up with the genomes: scaling genomic variant interpretation.

Genome Med 2019 12 31;12(1). Epub 2019 Dec 31.

Department of Genome Sciences, University of Washington, 15th Avenue NE, Seattle, WA, 98195-5065, USA.

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http://dx.doi.org/10.1186/s13073-019-0700-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6938604PMC
December 2019

The case for implementing sustainable routine, population-level genomic reanalysis.

Genet Med 2020 04 12;22(4):815-816. Epub 2019 Dec 12.

Center for Genomic Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1038/s41436-019-0719-3DOI Listing
April 2020

Is 'likely pathogenic' really 90% likely? Reclassification data in ClinVar.

Genome Med 2019 11 21;11(1):72. Epub 2019 Nov 21.

Medical & Population Genetics Program and Genomics Platform, Broad Institute of MIT and Harvard, Main Street, Cambridge, MA, 02142, USA.

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http://dx.doi.org/10.1186/s13073-019-0688-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6873511PMC
November 2019

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

Curr Protoc Hum Genet 2019 09;103(1):e93

Broad Institute of MIT and Harvard, Cambridge, Massachusetts.

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http://dx.doi.org/10.1002/cphg.93DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6885382PMC
September 2019

Rates of Actionable Genetic Findings in Individuals with Colorectal Cancer or Polyps Ascertained from a Community Medical Setting.

Am J Hum Genet 2019 09 15;105(3):526-533. Epub 2019 Aug 15.

Department of Medicine (Medical Genetics), University of Washington School of Medicine, Seattle, WA 98195, USA; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.07.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6731361PMC
September 2019

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

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

Am J Hum Genet 2019 04;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

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

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 03 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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6629256PMC
March 2019

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

Am J Hum Genet 2019 01;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

Returning a Genomic Result for an Adult-Onset Condition to the Parents of a Newborn: Insights From the BabySeq Project.

Pediatrics 2019 01;143(Suppl 1):S37-S43

Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.

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http://dx.doi.org/10.1542/peds.2018-1099HDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6433124PMC
January 2019

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

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

Rapid communication of efforts to resolve differences or update variant interpretations in ClinVar through case-level data sharing.

Authors:
Heidi Rehm

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

Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts 02114, USA; The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.

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http://dx.doi.org/10.1101/mcs.a003467DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6169822PMC
October 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

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

J Am Soc Nephrol 2018 09 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

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

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

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

The Ancestral Pace of Variant Reclassification.

J Natl Cancer Inst 2018 10;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

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

The Lifespan of Genetic Testing.

Am J Med 2018 09 19;131(9):991-992. Epub 2018 Apr 19.

Department of Medicine, Harvard Medical School, Brigham and Women's Hospital, Boston, Mass. Electronic address:

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http://dx.doi.org/10.1016/j.amjmed.2018.03.035DOI Listing
September 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

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

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

JAMA Cardiol 2018 04;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

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

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

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

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

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

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

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

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

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

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

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

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

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

CDH23 Related Hearing Loss: A New Genetic Risk Factor for Semicircular Canal Dehiscence?

Otol Neurotol 2016 12;37(10):1583-1588

*Otolaryngology Head and Neck Surgery, Dartmouth-Hitchcock Medical Center, Lebanon, New Hampshire†Otolaryngology Head and Neck Surgery, Mount Sinai, New York, New York‡Laboratory for Molecular Medicine, Cambridge; and Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts§Department of Human Genetics, University of Chicago, Illinois||Division of Radiology and Nuclear Medicine, Oslo University Hospital, Norway¶Children's Hospital of Philadelphia, Philadelphia, Pennsylvania#Children's Hospital of Pittsburgh, University of Pittsburg Medical Center, Pittsburgh, Pennsylvania**Radiology, Dartmouth-Hitchcock Medical Center, Lebanon, New Hampshire.

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https://insights.ovid.com/crossref?an=00129492-201612000-000
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http://dx.doi.org/10.1097/MAO.0000000000001210DOI Listing
December 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

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