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Lista de obras de Sami Amr

A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2

artículo científico publicado en 2007

A proposal for comprehensive newborn hearing screening to improve identification of deaf and hard-of-hearing children

scientific article published on 07 June 2019

A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing

artículo científico publicado en 2021

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

scientific article published on 12 March 2020

Comprehensive diagnostic testing for stereocilin: an approach for analyzing medically important genes with high homology

artículo científico publicado en 2014

Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel

artículo científico publicado en 2019

Correction: ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs

artículo científico publicado en 2019

Empirical comparison of reduced representation bisulfite sequencing and Infinium BeadChip reproducibility and coverage of DNA methylation in humans.

artículo científico publicado en 2017

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss

scientific article published on 01 November 2018

Genetic studies in Drosophila and humans support a model for the concerted function of CISD2, PPT1 and CLN3 in disease

artículo científico publicado en 2014

HIV Integration Site Analysis of Cellular Models of HIV Latency with a Probe-Enriched Next-Generation Sequencing Assay

artículo científico publicado en 2016

Histopathology of the Human Inner Ear in a Patient With Sensorineural Hearing Loss Caused by a Variant in DFNA5.

artículo científico publicado en 2015

Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing-based diagnostic testing and interpretation.

artículo científico publicado en 2015

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

artículo científico publicado en 2015

Novel frameshift variant in the IDUA gene underlies Mucopolysaccharidoses type I in a consanguineous Yemeni pedigree.

artículo científico publicado en 2017

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

artículo científico publicado en 2013

Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus

artículo científico publicado en 2015

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

artículo científico publicado en 2016

Using large sequencing data sets to refine intragenic disease regions and prioritize clinical variant interpretation.

artículo científico publicado en 2016

VisCap: inference and visualization of germ-line copy-number variants from targeted clinical sequencing data

artículo científico publicado en 2015

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