Publications by authors named "Heather Mason-Suares"

32Publications

A Role for Chromosomal Microarray Testing in the Workup of Male Infertility.

J Mol Diagn 2020 Sep 29;22(9):1189-1198. Epub 2020 Jun 29.

Department of Pathology, Harvard Medical School and Brigham and Women's Hospital, Boston, Massachusetts; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, Massachusetts. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jmoldx.2020.06.009DOI Listing
September 2020

Expanding the Noonan spectrum/RASopathy NGS panel: Benefits of adding NF1 and SPRED1.

Mol Genet Genomic Med 2020 04 27;8(4):e1180. Epub 2020 Feb 27.

Departments of Pathology, Harvard Medical School and Brigham and Women's Hospital, Boston, MA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mgg3.1180DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7196473PMC
April 2020

Considerations for whole exome sequencing unique to prenatal care.

Hum Genet 2020 Sep 7;139(9):1149-1159. Epub 2019 Nov 7.

Departments of Pathology, Harvard Medical School and Brigham and Women's Hospital, Boston, MA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00439-019-02085-7DOI Listing
September 2020

Considerations for clinical curation, classification, and reporting of low-penetrance and low effect size variants associated with disease risk.

Genet Med 2019 12 31;21(12):2765-2773. Epub 2019 May 31.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41436-019-0560-8DOI Listing
December 2019

Polygenic Prediction of Weight and Obesity Trajectories from Birth to Adulthood.

Cell 2019 04;177(3):587-596.e9

Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Division of Cardiology, Massachusetts General Hospital, Boston, MA 02114, USA; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Department of Medicine, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00928674193029
Publisher Site
http://dx.doi.org/10.1016/j.cell.2019.03.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6661115PMC
April 2019

NGS testing for cardiomyopathy: Utility of adding RASopathy-associated genes.

Hum Mutat 2018 07 16;39(7):954-958. Epub 2018 May 16.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.23535DOI Listing
July 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.

View Article

Download full-text PDF

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

When ultrasound anomalies are present: An estimation of the frequency of chromosome abnormalities not detected by cell-free DNA aneuploidy screens.

Prenat Diagn 2018 03 21;38(4):250-257. Epub 2018 Feb 21.

Department of Maternal Fetal Medicine, Brigham and Women's Hospital, Boston, MA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.5233DOI Listing
March 2018

Elucidation of -mediated Noonan syndrome with cardiac hypertrophy.

JCI Insight 2017 03 9;2(5):e91225. Epub 2017 Mar 9.

Department of Molecular Pharmacology and Experimental Therapeutics and Windland Smith Rice Sudden Death Genomics Laboratory.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1172/jci.insight.91225DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5333962PMC
March 2017

The current state of clinical interpretation of sequence variants.

Curr Opin Genet Dev 2017 Feb 31;42:33-39. Epub 2017 Jan 31.

Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, 65 Landsdowne Str., Cambridge, MA 02115 USA; Department of Pathology, Harvard Medical School and Brigham and Women's Hospital, 75 Francis Str., Boston, MA 02115 USA. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S0959437X173000
Publisher Site
http://dx.doi.org/10.1016/j.gde.2017.01.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5446800PMC
February 2017

Reporting of Diagnostic Cytogenetic Results.

Curr Protoc Hum Genet 2016 Apr 1;89:A.1D.1-A.1D.23. Epub 2016 Apr 1.

Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/0471142905.hg01ds89DOI Listing
April 2016

Retrospective study of prenatal ultrasound findings in newborns with a Noonan spectrum disorder.

Prenat Diagn 2016 May 28;36(5):418-23. Epub 2016 Mar 28.

Departments of Pathology, Harvard Medical School and Brigham and Women's Hospital, Boston, MA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.4797DOI Listing
May 2016

Training the Future Leaders in Personalized Medicine.

J Pers Med 2016 Jan 7;6(1). Epub 2016 Jan 7.

Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, 75 Francis Street, Boston, MA 02115, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/jpm6010001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4810380PMC
January 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.

View Article

Download full-text PDF

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

Density matters: comparison of array platforms for detection of copy-number variation and copy-neutral abnormalities.

Genet Med 2013 Sep 4;15(9):706-12. Epub 2013 Apr 4.

Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2013.36DOI Listing
September 2013

Polycomb silencing of the Drosophila 4E-BP gene regulates imaginal disc cell growth.

Dev Biol 2013 Aug 20;380(1):111-24. Epub 2013 Mar 20.

Department of Genetics and Genome Sciences, Case Western Reserve University, School of Medicine, 10900 Euclid Avenue, Cleveland, OH 44106, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ydbio.2013.03.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4416090PMC
August 2013

Gene symbol: AR. Disease: androgen insensitivity syndrome.

Hum Genet 2006 Jul;119(6):681

Department of Molecular Genetics/Pathology, All Children's Hospital, St. Petersburg, FL 33701, USA.

View Article

Download full-text PDF

Source
July 2006

Gene symbol: AR. Disease: androgen insensitivity syndrome.

Hum Genet 2006 Jul;119(6):680-1

Department of Molecular Genetics/Pathology, All Children's Hospital, St. Petersburg, FL 33701, USA.

View Article

Download full-text PDF

Source
July 2006

Gene symbol: AR. Disease: androgen insensitivity syndrome.

Hum Genet 2006 Jul;119(6):680

Department of Molecular Genetics/Pathology, All Children's Hospital, St. Petersburg, FL 33701, USA.

View Article

Download full-text PDF

Source
July 2006

Gene symbol: AR. Disease: androgen insensitivity syndrome.

Hum Genet 2006 Jul;119(6):673

Department of Molecular Genetics/Pathology, All Children's Hospital, St. Petersburg, FL 33701, USA.

View Article

Download full-text PDF

Source
July 2006

Gene symbol: AR. Disease: androgen insensitivity syndrome.

Hum Genet 2006 Jul;119(6):673

Department of Molecular Genetics/Pathology, All Children's Hospital, St. Petersburg, FL 33701, USA.

View Article

Download full-text PDF

Source
July 2006