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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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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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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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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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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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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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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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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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A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa

Investigative ophthalmology & visual science, 2014-09, Vol.55 (11), p.7147-7158

2014

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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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COVID19: A Systematic Approach to Early Identification and Healthcare Worker Protection

Frontiers in public health, 2020-05, Vol.8, p.205

2020

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homozygous mutation in LTBP2 causes isolated microspherophakia

Human genetics, 2010-10, Vol.128 (4), p.365-371

2010

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Further evidence suggesting a role for variation in ARHGAP29 variants in nonsyndromic cleft lip/palate

Birth defects research. A Clinical and molecular teratology, 2014-09, Vol.100 (9), p.679-685

2014

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Carotid Plaque and Candidate Genes Related to Inflammation and Endothelial Function in Hispanics From Northern Manhattan

Stroke (1970), 2011-04, Vol.42 (4), p.889-896

2011

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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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Peripheral vestibular system: Age-related vestibular loss and associated deficits

Journal of otology (Beijing), 2021-10, Vol.16 (4), p.258-265

2021

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Follow-up association study of linkage regions reveals multiple candidate genes for carotid plaque in Dominicans

Atherosclerosis, 2012-07, Vol.223 (1), p.177-183

2012

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Sirtuin/Uncoupling Protein Gene Variants and Carotid Plaque Area and Morphology

International journal of stroke, 2015-12, Vol.10 (8), p.1247-1252

2015

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Genetic loci for blood lipid levels identified by linkage and association analyses in Caribbean Hispanics[S]

Journal of lipid research, 2011-07, Vol.52 (7), p.1411-1419

2011

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

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

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

Review of Genotype-Phenotype Correlations in Usher Syndrome

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

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

The genetic basis of deafness in populations of African descent

Genetics and the Individualized Therapy of Vestibular Disorders

Exome-Based Mapping and Variant Prioritization for Inherited Mendelian Disorders

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

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

A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa

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

COVID19: A Systematic Approach to Early Identification and Healthcare Worker Protection

homozygous mutation in LTBP2 causes isolated microspherophakia

Further evidence suggesting a role for variation in ARHGAP29 variants in nonsyndromic cleft lip/palate

Carotid Plaque and Candidate Genes Related to Inflammation and Endothelial Function in Hispanics From Northern Manhattan

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

Peripheral vestibular system: Age-related vestibular loss and associated deficits

Follow-up association study of linkage regions reveals multiple candidate genes for carotid plaque in Dominicans

Sirtuin/Uncoupling Protein Gene Variants and Carotid Plaque Area and Morphology

Genetic loci for blood lipid levels identified by linkage and association analyses in Caribbean Hispanics[S]

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

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