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List of works by Stephanie A. Santorico

A new framework to test parent-child and full sibling relationships with population substructure

scientific article published on 25 October 2019

Alterations in human milk leptin and insulin are associated with early changes in the infant intestinal microbiome.

scientific article

Autoimmune vitiligo is associated with gain-of-function by a transcriptional regulator that elevates expression of HLA-A*02:01 in vivo

scientific article published on 19 January 2016

Challenges of linkage analysis in the era of whole-genome sequencing

scientific article

Cluster analysis in the COPDGene study identifies subtypes of smokers with distinct patterns of airway disease and emphysema

scientific article published on 21 February 2014

Cross-disorder analysis of schizophrenia and 19 immune-mediated diseases identifies shared genetic risk ⬇️

scientific article published on 01 October 2019

Crowdsourcing taste research: genetic and phenotypic predictors of bitter taste perception as a model

scientific article

Deep genotype imputation captures virtually all heritability of autoimmune vitiligo

scientific article published on 01 March 2020

Denver Papillae Protocol for Objective Analysis of Fungiform Papillae

scientific article

Early-onset autoimmune vitiligo associated with an enhancer variant haplotype that upregulates class II HLA expression

scientific article published in Nature Communications

Effects of Vaccination with 10-Valent Pneumococcal Non-Typeable Haemophilus influenza Protein D Conjugate Vaccine (PHiD-CV) on the Nasopharyngeal Microbiome of Kenyan Toddlers

scientific article published on 17 June 2015

Evidence for gene-smoking interactions for hearing loss and deafness in Japanese American families

scientific article published on 24 December 2019

Facial shape manifestations of growth faltering in Tanzanian children.

scientific article published on 28 November 2017

Factors affecting detection of bimodal sour-savory mixture and inter-individual umami taste perception

scientific article published on 24 November 2020

Family Clustering of Autoimmune Vitiligo Results Principally from Polygenic Inheritance of Common Risk Alleles

scientific article published on 18 July 2019

Genetic Analysis Workshop 18: Methods and strategies for analyzing human sequence and phenotype data in members of extended pedigrees

scientific article

Genetic Analysis Workshop 19: methods and strategies for analyzing human sequence and gene expression data in extended families and unrelated individuals

scientific article

Genetic and structure-function studies of missense mutations in human endothelial lipase

scientific article

Genetic associations with lipoprotein subfraction measures differ by ethnicity in the multi-ethnic study of atherosclerosis (MESA).

scientific article

Genome-Wide Association Study Reveals Multiple Loci Influencing Normal Human Facial Morphology

scientific article

Genome-Wide Association of PVT1 with Vitiligo

scientific article published on 02 March 2018

Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants

scientific article published on 10 October 2016

Genomewide Association Study of African Children Identifies Association of SCHIP1 and PDE8A with Facial Size and Shape.

scientific article

Human Facial Shape and Size Heritability and Genetic Correlations

scientific article published on 14 December 2016

Identification of Chronic Obstructive Pulmonary Disease Axes That Predict All-Cause Mortality: The COPDGene Study

scientific article published on 01 October 2018

MHC class II super-enhancer increases surface expression of HLA-DR and HLA-DQ and affects cytokine production in autoimmune vitiligo

scientific article

Methods for combining multiple genome-wide linkage studies

scientific article published on January 2010

Mode of Delivery Determines Neonatal Pharyngeal Bacterial Composition and Early Intestinal Colonization

scientific article published on 28 March 2016

Multiple Functional Variants of IFIH1, a Gene Involved in Triggering Innate Immune Responses, Protect against Vitiligo

scientific article published on 5 October 2016

Multivariate linkage scan for metabolic syndrome traits in families with type 2 diabetes

scientific article published on 23 December 2010

Pediatric to Adult Shift in Vitiligo Onset Suggests Altered Environmental Triggering

scientific article published on 28 June 2019

Population-Based Resequencing of LIPG and ZNF202 Genes in Subjects with Extreme HDL Levels

scientific article

Prediction of acute respiratory disease in current and former smokers with and without COPD

scientific article

Progress in methods for rare variant association

scientific article

ProxECAT: Proxy External Controls Association Test. A new case-control gene region association test using allele frequencies from public controls

article

Rapid automated landmarking for morphometric analysis of three-dimensional facial scans.

scientific article published on 12 January 2017

Reply to M Gotteland and F Magne

scientific article published in January 2017

Statistics for next generation sequencing - meeting report

scientific article

Taste Responses to Linoleic Acid: A Crowdsourced Population Study

scientific article published on 31 October 2017

The Genetic Basis of Vitiligo

scientific article published on 08 August 2020

The genetic architecture of vitiligo

scientific article published on 04 December 2019

Transethnic meta-analysis of metabolic syndrome in a multiethnic study

scientific article published on 24 October 2019

Use of admixture and association for detection of quantitative trait loci in the Type 2 Diabetes Genetic Exploration by Next-Generation Sequencing in Ethnic Samples (T2D-GENES) study

scientific article

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