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Author Details

Sami S Amr
Brigham and Women's Hospital, Harvard Medical School
1981
82
20
PMIDPaper TitleJournal TitlePublished Year
37186683Association of Severe Hypercholesterolemia and Familial Hypercholesterolemia Genotype With Risk of Coronary Heart Disease.Circulation2023
34580195Lung function, airway and peripheral basophils and eosinophils are associated with molecular pharmacogenomic endotypes of steroid response in severe asthma.Thorax2022
35735787The Burden and Benefits of Knowledge: Ethical Considerations Surrounding Population-Based Newborn Genome Screening for Hearing.Int J Neonatal Screen2022
35447890Blood miRNAs Are Linked to Frequent Asthma Exacerbations in Childhood Asthma and Adult COPD.Noncoding RNA2022
35870179Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss.Hum Mutat2022
36281363Morphometric and meristic diversity of the species <i>Androctonus crassicauda</i> (Olivier, 1807) (Scorpiones: Buthidae) in Saudi Arabia.PeerJ2022
35041930Automated Pharmacogenomic Reports for Clinical Genome Sequencing.J Mol Diagn2022
35026216Snakebites in Jordan: A clinical and epidemiological study.Toxicon2022
33387549Scorpions and scorpion sting envenoming (scorpionism) in the Arab Countries of the Middle East.Toxicon2021
33492714Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients.Hum Mutat2021
33824189New Tmc1 Deafness Mutations Impact Mechanotransduction in Auditory Hair Cells.J Neurosci2021
33872788Commercially Available Blocking Oligonucleotides Effectively Suppress Unwanted Hemolysis-Related miRNAs in a Large Whole-Blood RNA Cohort.J Mol Diagn2021
33921607Unique Variant Spectrum in a Jordanian Cohort with Inherited Retinal Dystrophies.Genes (Basel)2021
34586175Seroprevalences of Toxoplasma gondii and Neospora caninum infections in Jordanian women who had a recent spontaneous abortion.Rev Bras Parasitol Vet2021
33991419Epidemiology of snakebites in Kuwait.Trans R Soc Trop Med Hyg2021
34121892Small and overlooked: Phylogeny of the genus <i>Trigonodactylus</i> (Squamata: Gekkonidae), with the first record of <i>Trigonodactylus arabicus</i> from Jordan.Saudi J Biol Sci2021
33958783Genome-wide survival study identifies a novel synaptic locus and polygenic score for cognitive progression in Parkinson's disease.Nat Genet2021
33398081A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing.Eur J Hum Genet2021
32165660COMPSRA: a COMprehensive Platform for Small RNA-Seq data Analysis.Sci Rep2020
32001320Terrestrial venomous snakes and snakebites in the Arab countries of the Middle East.Toxicon2020
31968401Extending the spectrum of CLRN1- and ABCA4-associated inherited retinal dystrophies caused by novel and recurrent variants using exome sequencing.Mol Genet Genomic Med2020
33281559A Novel Variant in the TBC1D24 Lipid-Binding Pocket Causes Autosomal Dominant Hearing Loss: Evidence for a Genotype-Phenotype Correlation.Front Cell Neurosci2020
32587456Clinical heterogeneity in retinitis pigmentosa caused by variants in <i>RP1</i> and <i>RLBP1</i> in five extended consanguineous pedigrees.Mol Vis2020
32347951Association of Rare Pathogenic DNA Variants for Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer Syndrome, and Lynch Syndrome With Disease Risk in Adults According to Family History.JAMA Netw Open2020
30298529The eMERGE genotype set of 83,717 subjects imputed to ~40â¿¿million variants genome wide and association with the herpes zoster medical record phenotype.Genet Epidemiol2019
31636537Sex-Dependent Changes in miRNA Expression in the Bed Nucleus of the Stria Terminalis Following Stress.Front Mol Neurosci2019
31387326Middle East Respiratory Syndrome Coronavirus (MERS-CoV) in Dromedary Camels in Africa and Middle East.Viruses2019
31218851Prenatal cytogenomic identification and molecular refinement of compound heterozygous STRC deletion breakpoints.Mol Genet Genomic Med2019
30974096Cutaneous leishmaniasis among Syrian refugees in Jordan.Acta Trop2019
30851774Novel CERKL variant in consanguineous Jordanian pedigrees with inherited retinal dystrophies.Can J Ophthalmol2019
31160754Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.Genet Med2019
29339441Allele-Specific Droplet Digital PCR Combined with a Next-Generation Sequencing-Based Algorithm for Diagnostic Copy Number Analysis in Genes with High Homology: Proof of Concept Using Stereocilin.Clin Chem2018
30096381Curating Clinically Relevant Transcripts for the Interpretation of Sequence Variants.J Mol Diagn2018
30950587Cutaneous Leishmaniasis among Syrian Refugees in Jordan: a Retrospective Study.Bull Soc Pathol Exot2018
30545357Mitochondrial gene sequence variants in children with severe malaria anaemia with or without lactic acidosis: a case control study.Malar J2018
30311386Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.Hum Mutat2018
30408290Horse flies and their seasonal abundance in El Tarf Province of northeastern Algeria.J Vector Ecol2018
29690341Systematics, distribution and ecological analysis of rodents in Jordan.Zootaxa2018
29655801Analysis of intragenic USH2A copy number variation unveils broad spectrum of unique and recurrent variants.Eur J Med Genet2018
29048421Recurrent variants in OTOF are significant contributors to prelingual nonsydromic hearing loss in Saudi patients.Genet Med2018
27657688Using large sequencing data sets to refine intragenic disease regions and prioritize clinical variant interpretation.Genet Med2017
29263828Empirical comparison of reduced representation bisulfite sequencing and Infinium BeadChip reproducibility and coverage of DNA methylation in humans.NPJ Genom Med2017
28649516Novel frameshift variant in the IDUA gene underlies Mucopolysaccharidoses type I in a consanguineous Yemeni pedigree.Mol Genet Metab Rep2017
28590214First Record of Aedes albopictus in Jordan.J Am Mosq Control Assoc2017
28504444Diversity, ecology, and seasonality of sand flies (Diptera: Psychodidae) of the Jenin District (Palestinian Territories).J Vector Ecol2017
28504443Bat ectoparasites (Nycteribiidae, Streblidae, Siphonaptera, Heteroptera, Mesostigmata, Argasidae, and Ixodidae) from Algeria.J Vector Ecol2017
28689960Scorpion Stings in Jordan: An Update.Wilderness Environ Med2017
26927185The Translational Genomics Core at Partners Personalized Medicine: Facilitating the Transition of Research towards Personalized Medicine.J Pers Med2016
26562227Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing-based diagnostic testing and interpretation.Genet Med2016
26444186Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus.Hum Mutat2016
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Collaborators

The Broad Institute of MIT and Harvard
Co-authored papers 12
Harvard Medical School, Brigham and Women's Hospital
Co-authored papers 7
Partners Healthcare Center for Personalized Genetic Medicine
Co-authored papers 5
Brigham and Women's Hospital, Harvard Medical School, Boston Children's Hospital
Co-authored papers 4
Brigham and Women's Hospital, Harvard Medical School
Co-authored papers 4
Children's Hospital of Philadelphia
Co-authored papers 4
Broad Institute of MIT and Harvard
Co-authored papers 3
Princess Margaret Cancer Centre, University Health Network
Co-authored papers 3
Co-authored papers 2
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Co-authored papers 2
Brigham and Women's Hospital
Co-authored papers 1
Institute of Data Science, Korea University
Co-authored papers 1
German Center for Neurodegenerative Diseases (DZNE).
Co-authored papers 1
John Van Geest Center for Brain Repair, University of Cambridge
Co-authored papers 1
Co-authored papers 1
Brigham and Women's Hospital and Harvard Medical School
Co-authored papers 1
Vanderbilt University Medical Center
Co-authored papers 1
Co-authored papers 1
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The Huck Institutes of Life Sciences, University Park, Pennsylvania State University
Co-authored papers 1
Center for Genetic Medicine, Northwestern University Feinberg School of Medicine
Co-authored papers 1
Mayo Clinic
Co-authored papers 1
Co-authored papers 1
Vanderbilt University Medical Center
Co-authored papers 1
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Brigham and Women's Hospital, Harvard Medical School
Co-authored papers 1
Co-authored papers 1
Mayo Clinic
Co-authored papers 1