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Rare variants in previously identified linkage regions associated with carotid plaque in Dominican Republic families

PloS one, 2022-01, Vol.17 (1), p.e0250799-e0250799

2022

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Review of Genotype-Phenotype Correlations in Usher Syndrome

Ear and hearing, 2022-01, Vol.43 (1), p.1-8

2022

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The role of sirtuins and uncoupling proteins on vascular aging: The Northern Manhattan Study experience

Free radical biology & medicine, 2024-08, Vol.220, p.262-270

2024

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A novel mutation in VCP causes Charcot―Marie―Tooth Type 2 disease

Brain (London, England : 1878), 2014-11, Vol.137 (Pt 11), p.2897-2902

2014

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Mutations in STIL, Encoding a Pericentriolar and Centrosomal Protein, Cause Primary Microcephaly

American journal of human genetics, 2009-02, Vol.84 (2), p.286-290

2009

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Usher Syndrome in the Inner Ear: Etiologies and Advances in Gene Therapy

International journal of molecular sciences, 2021-04, Vol.22 (8), p.3910

2021

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Screening of deafness-causing DNA variants that are common in patients of European ancestry using a microarray-based approach

PloS one, 2017-03, Vol.12 (3), p.e0169219-e0169219

2017

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Association of the sirtuin and mitochondrial uncoupling protein genes with carotid plaque

PloS one, 2011-11, Vol.6 (11), p.e27157-e27157

2011

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Recent advancements in understanding the role of epigenetics in the auditory system

Gene, 2020-11, Vol.761, p.144996-144996, Article 144996

2020

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Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia

American journal of human genetics, 2011-08, Vol.89 (2), p.289-294

2011

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Traditional Cardiovascular Risk Factors Explain the Minority of the Variability in Carotid Plaque

Stroke (1970), 2012-07, Vol.43 (7), p.1755-1760

2012

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Rare Variants in NOD1 Associated with Carotid Bifurcation Intima-Media Thickness in Dominican Republic Families

PloS one, 2016-12, Vol.11 (12), p.e0167202-e0167202

2016

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Genetic screening as an adjunct to universal newborn hearing screening: literature review and implications for non-congenital pre-lingual hearing loss

International journal of audiology, 2019-12, Vol.58 (12), p.834-850

2019

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DNA Methylation Variation Is Identified in Monozygotic Twins Discordant for Non-syndromic Cleft Lip and Palate

Frontiers in cell and developmental biology, 2021-05, Vol.9, p.656865

2021

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Exome-Based Mapping and Variant Prioritization for Inherited Mendelian Disorders

American journal of human genetics, 2014-03, Vol.94 (3), p.373-384

2014

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The genetic basis of deafness in populations of African descent

Journal of genetics and genomics, 2017-06, Vol.44 (6), p.285-294

2017

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Genetics and the Individualized Therapy of Vestibular Disorders

Frontiers in neurology, 2021-02, Vol.12, p.633207-633207

2021

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Extreme Phenotype Approach Suggests Taste Transduction Pathway for Carotid Plaque in a Multi-Ethnic Cohort

Stroke (1970), 2020-09, Vol.51 (9), p.2761-2769

2020

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Genome-wide association study of executive function in a multi-ethnic cohort implicates LINC01362: Results from the northern Manhattan study

Neurobiology of aging, 2023-03, Vol.123, p.216-221

2023

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Biological insights from multi-omic analysis of 31 genomic risk loci for adult hearing difficulty

PLoS genetics, 2020-09, Vol.16 (9), p.e1009025-e1009025

2020

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Targeted sequencing of linkage region in Dominican families implicates PRIMA1 and the SPATA7-PTPN21-ZC3H14-EML5-TTC8 locus in carotid-intima media thickness and atherosclerotic events

Scientific reports, 2019-08, Vol.9 (1), p.11621-10, Article 11621

2019

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Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss

PloS one, 2012-11, Vol.7 (11), p.e50628-e50628

2012

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FOXF2 is required for cochlear development in humans and mice

Human molecular genetics, 2019-04, Vol.28 (8), p.1286-1297

2019

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Rare variants in previously identified linkage regions associated with carotid plaque in Dominican Republic families

Review of Genotype-Phenotype Correlations in Usher Syndrome

The role of sirtuins and uncoupling proteins on vascular aging: The Northern Manhattan Study experience

A novel mutation in VCP causes Charcot―Marie―Tooth Type 2 disease

Mutations in STIL, Encoding a Pericentriolar and Centrosomal Protein, Cause Primary Microcephaly

Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents

Usher Syndrome in the Inner Ear: Etiologies and Advances in Gene Therapy

Screening of deafness-causing DNA variants that are common in patients of European ancestry using a microarray-based approach

Association of the sirtuin and mitochondrial uncoupling protein genes with carotid plaque

Recent advancements in understanding the role of epigenetics in the auditory system

Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort

Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia

Traditional Cardiovascular Risk Factors Explain the Minority of the Variability in Carotid Plaque

Rare Variants in NOD1 Associated with Carotid Bifurcation Intima-Media Thickness in Dominican Republic Families

Genetic screening as an adjunct to universal newborn hearing screening: literature review and implications for non-congenital pre-lingual hearing loss

DNA Methylation Variation Is Identified in Monozygotic Twins Discordant for Non-syndromic Cleft Lip and Palate

Exome-Based Mapping and Variant Prioritization for Inherited Mendelian Disorders

The genetic basis of deafness in populations of African descent

Genetics and the Individualized Therapy of Vestibular Disorders

Extreme Phenotype Approach Suggests Taste Transduction Pathway for Carotid Plaque in a Multi-Ethnic Cohort

Genome-wide association study of executive function in a multi-ethnic cohort implicates LINC01362: Results from the northern Manhattan study

Biological insights from multi-omic analysis of 31 genomic risk loci for adult hearing difficulty

Targeted sequencing of linkage region in Dominican families implicates PRIMA1 and the SPATA7-PTPN21-ZC3H14-EML5-TTC8 locus in carotid-intima media thickness and atherosclerotic events

Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss

FOXF2 is required for cochlear development in humans and mice

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