List of works - Adam P. DeLuca

A contemporary review of AudioGene audioprofiling: a machine-based candidate gene prediction tool for autosomal dominant nonsyndromic hearing loss.

scientific article

Advancing genetic testing for deafness with genomic technology

scientific article

AudioGene: predicting hearing loss genotypes from phenotypes to guide genetic screening.

scientific article published on 19 February 2013

Audioprofile-directed screening identifies novel mutations in KCNQ4 causing hearing loss at the DFNA2 locus.

scientific article published on November 2008

Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with alpha-tectorin and is mutated in autosomal dominant hearing loss (DFNA4).

scientific article

Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease.

scientific article published on 27 May 2017

Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing.

scientific article

Congenital myopathy is caused by mutation of HACD1.

scientific article published on 09 August 2013

DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.

scientific article published on 7 June 2011

Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa

scientific article

Exon-level expression profiling of ocular tissues

scientific article published on 14 March 2013

Genomic Organization of TBK1 Copy Number Variations in Glaucoma Patients ⬇️

scientific article

Mutation in the COCH gene is associated with superior semicircular canal dehiscence

scientific article published on 01 February 2009

Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease.

scientific article published on 04 August 2013

Prediction of cochlear implant performance by genetic mutation: the spiral ganglion hypothesis

scientific article

Prioritization of retinal disease genes: an integrative approach

scientific article

SQSTM1 Mutations and Glaucoma.

scientific article

Transcriptomic analysis across nasal, temporal, and macular regions of human neural retina and RPE/choroid by RNA-Seq

scientific article

Using the phenome and genome to improve genetic diagnosis for deafness.

scientific article published on 11 July 2012

List of works by Adam P. DeLuca

A contemporary review of AudioGene audioprofiling: a machine-based candidate gene prediction tool for autosomal dominant nonsyndromic hearing loss.

Advancing genetic testing for deafness with genomic technology

AudioGene: predicting hearing loss genotypes from phenotypes to guide genetic screening.

Audioprofile-directed screening identifies novel mutations in KCNQ4 causing hearing loss at the DFNA2 locus.

Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with alpha-tectorin and is mutated in autosomal dominant hearing loss (DFNA4).

Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease.

Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing.

Congenital myopathy is caused by mutation of HACD1.

DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.

Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa

Exon-level expression profiling of ocular tissues

Genomic Organization of TBK1 Copy Number Variations in Glaucoma Patients ⬇️

Mutation in the COCH gene is associated with superior semicircular canal dehiscence

Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease.

Prediction of cochlear implant performance by genetic mutation: the spiral ganglion hypothesis

Prioritization of retinal disease genes: an integrative approach

SQSTM1 Mutations and Glaucoma.

Transcriptomic analysis across nasal, temporal, and macular regions of human neural retina and RPE/choroid by RNA-Seq

Using the phenome and genome to improve genetic diagnosis for deafness.