Publications by authors named "Sami S Amr"

23Publications

COMPSRA: a COMprehensive Platform for Small RNA-Seq data Analysis.

Sci Rep 2020 03 12;10(1):4552. Epub 2020 Mar 12.

The Channing Division of Network Medicine, Department of Medicine, Brigham & Women's Hospital and Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1038/s41598-020-61495-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7067867PMC
March 2020

Prenatal cytogenomic identification and molecular refinement of compound heterozygous STRC deletion breakpoints.

Mol Genet Genomic Med 2019 08 19;7(8):e806. Epub 2019 Jun 19.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York City, New York.

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http://dx.doi.org/10.1002/mgg3.806DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687617PMC
August 2019

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

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

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

Next generation sequencing-based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies.

Mol Genet Genomic Med 2016 Mar 16;4(2):143-51. Epub 2015 Dec 16.

Laboratory for Molecular MedicinePartners HealthCare Personalized MedicineCambridgeMassachusetts; Department of PathologyMassachusetts General Hospital and Harvard Medical SchoolBostonMassachusetts.

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http://dx.doi.org/10.1002/mgg3.187DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4799872PMC
March 2016

The Translational Genomics Core at Partners Personalized Medicine: Facilitating the Transition of Research towards Personalized Medicine.

J Pers Med 2016 Feb 26;6(1). Epub 2016 Feb 26.

Partners HealthCare Personalized Medicine, 65 Landsdowne Street, Cambridge, MA 02139, USA.

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http://dx.doi.org/10.3390/jpm6010010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4810389PMC
February 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

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

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

SOX12 and NRSN2 are candidate genes for 20p13 subtelomeric deletions associated with developmental delay.

Am J Med Genet B Neuropsychiatr Genet 2013 Dec 6;162B(8):832-40. Epub 2013 Sep 6.

Institutes of Biomedical Sciences, Children's Hospital and MOE Key Laboratory of Contemporary Anthropology, Fudan University, Shanghai, China; Department of Laboratory Medicine, Boston Children's Hospital, Boston, Massachusetts.

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http://dx.doi.org/10.1002/ajmg.b.32187DOI Listing
December 2013