about
VisCap: inference and visualization of germ-line copy-number variants from targeted clinical sequencing data.Using large sequencing data sets to refine intragenic disease regions and prioritize clinical variant interpretation.Genetic studies in Drosophila and humans support a model for the concerted function of CISD2, PPT1 and CLN3 in disease.Novel frameshift variant in the IDUA gene underlies Mucopolysaccharidoses type I in a consanguineous Yemeni pedigree.HIV Integration Site Analysis of Cellular Models of HIV Latency with a Probe-Enriched Next-Generation Sequencing Assay.A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2Next generation sequencing-based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies.The Translational Genomics Core at Partners Personalized Medicine: Facilitating the Transition of Research towards Personalized Medicine.SOX12 and NRSN2 are candidate genes for 20p13 subtelomeric deletions associated with developmental delay.Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing-based diagnostic testing and interpretation.Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus.Histopathology of the Human Inner Ear in a Patient With Sensorineural Hearing Loss Caused by a Variant in DFNA5.Empirical comparison of reduced representation bisulfite sequencing and Infinium BeadChip reproducibility and coverage of DNA methylation in humans.Comprehensive diagnostic testing for stereocilin: an approach for analyzing medically important genes with high homology.Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing lossCOMPSRA: a COMprehensive Platform for Small RNA-Seq data AnalysisCorrection: ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairsConsensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert PanelA proposal for comprehensive newborn hearing screening to improve identification of deaf and hard-of-hearing children
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wetenschapper
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հետազոտող
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Sami Amr
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Sami Amr
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Sami Amr
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Sami Amr
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Sami Amr
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Sami Amr
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Sami Amr
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Sami Amr
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Sami Amr
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Sami Amr
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Sami Amr
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Sami Amr
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0000-0003-0927-6057