List of works - Sami Amr

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

scientific article

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

scientific article published in 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

scientific article published on 23 August 2014

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

scientific article published on 04 June 2019

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

scientific article published on 01 October 2019

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

scientific article published on 19 April 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

scientific article

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

scientific article

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

scientific article published on 22 October 2015

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

scientific article

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

scientific article published on 16 December 2015

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

scientific article

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

scientific article published on 06 September 2013

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

scientific article published on 7 October 2015

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

scientific article published on 26 February 2016

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

scientific article

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

scientific article

List of works by Sami Amr

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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