Lista de obras -

A functional synonymous coding variant in the IL1RN gene is associated with survival in septic shock.

artículo científico publicado en 2014

ARAF recurrent mutation causes central conducting lymphatic anomaly treatable with a MEK inhibitor

scientific article published on 01 July 2019

Application of deep learning algorithm on whole genome sequencing data uncovers structural variants associated with multiple mental disorders in African American patients

artículo científico publicado en 2022

Association of Rare Recurrent Copy Number Variants With Congenital Heart Defects Based on Next-Generation Sequencing Data From Family Trios

scientific article published on 10 September 2019

Burden of rare coding variants reveals genetic heterogeneity between obese and non-obese asthma patients in the African American population

artículo científico publicado en 2022

Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies.

artículo científico publicado en 2018

Common variants at 5q33.1 predispose to migraine in African-American children.

artículo científico publicado en 2018

Common variants in MMP20 at 11q22.2 predispose to 11q deletion and neuroblastoma risk.

artículo científico publicado en 2017

Comprehensive analysis of gene expression in human retina and supporting tissues.

artículo científico

Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments.

artículo científico publicado en 2015

Domain Altering SNPs in the Human Proteome and Their Impact on Signaling Pathways ⬇️

artículo científico publicado el 23 de septiembre de 2010

Erratum to: Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments

artículo científico publicado en 2016

Erratum: A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling.

artículo científico publicado en 2017

Expansion of Schizophrenia Gene Network Knowledge Using Machine Learning Selected Signals From Dorsolateral Prefrontal Cortex and Amygdala RNA-seq Data

artículo científico publicado en 2022

Genetic correlations between COVID-19 and a variety of traits and diseases

artículo científico publicado en 2021

Genome-wide association study reveals two loci for serum magnesium concentrations in European-American children.

artículo científico publicado en 2015

Heterozygous Deletion Impacting SMARCAD1 in the Original Kindred with Absent Dermatoglyphs and Associated Features (Baird, 1964).

artículo científico publicado en 2017

Integrative genomics identifies 7p11.2 as a novel locus for fever and clinical stress response in humans

artículo científico publicado en 2014

Mapping Splicing Quantitative Trait Loci in RNA-Seq

artículo científico publicado en 2015

Mapping Splicing Quantitative Trait Loci in RNA-Seq.

artículo científico publicado en 2014

Microduplications at the 15q11.2 BP1-BP2 locus are enriched in patients with anorexia nervosa

artículo científico publicado en 2019

Mitochondrial DNA haplogroups and risk of attention deficit and hyperactivity disorder in European Americans

scientific article published on 02 November 2020

Modular composition predicts kinase/substrate interactions.

artículo científico publicado en 2010

PennSeq: accurate isoform-specific gene expression quantification in RNA-Seq by modeling non-uniform read distribution

artículo científico publicado en 2013

RNA-Seq identifies novel myocardial gene expression signatures of heart failure

artículo científico publicado en 2014

Testing Genetic Association With Rare Variants in Admixed Populations ⬇️

artículo científico publicado el 2 de octubre de 2012

Tissue-specific RNA-Seq in human evoked inflammation identifies blood and adipose LincRNA signatures of cardiometabolic diseases

scientific article published on 06 February 2014

Lista de obras de

A functional synonymous coding variant in the IL1RN gene is associated with survival in septic shock.

ARAF recurrent mutation causes central conducting lymphatic anomaly treatable with a MEK inhibitor

Application of deep learning algorithm on whole genome sequencing data uncovers structural variants associated with multiple mental disorders in African American patients

Association of Rare Recurrent Copy Number Variants With Congenital Heart Defects Based on Next-Generation Sequencing Data From Family Trios

Burden of rare coding variants reveals genetic heterogeneity between obese and non-obese asthma patients in the African American population

Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies.

Common variants at 5q33.1 predispose to migraine in African-American children.

Common variants in MMP20 at 11q22.2 predispose to 11q deletion and neuroblastoma risk.

Comprehensive analysis of gene expression in human retina and supporting tissues.

Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments.

Domain Altering SNPs in the Human Proteome and Their Impact on Signaling Pathways ⬇️

Erratum to: Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments

Erratum: A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling.

Expansion of Schizophrenia Gene Network Knowledge Using Machine Learning Selected Signals From Dorsolateral Prefrontal Cortex and Amygdala RNA-seq Data

Genetic correlations between COVID-19 and a variety of traits and diseases

Genome-wide association study reveals two loci for serum magnesium concentrations in European-American children.

Heterozygous Deletion Impacting SMARCAD1 in the Original Kindred with Absent Dermatoglyphs and Associated Features (Baird, 1964).

Integrative genomics identifies 7p11.2 as a novel locus for fever and clinical stress response in humans

Mapping Splicing Quantitative Trait Loci in RNA-Seq

Mapping Splicing Quantitative Trait Loci in RNA-Seq.

Microduplications at the 15q11.2 BP1-BP2 locus are enriched in patients with anorexia nervosa

Mitochondrial DNA haplogroups and risk of attention deficit and hyperactivity disorder in European Americans

Modular composition predicts kinase/substrate interactions.

PennSeq: accurate isoform-specific gene expression quantification in RNA-Seq by modeling non-uniform read distribution

RNA-Seq identifies novel myocardial gene expression signatures of heart failure

Testing Genetic Association With Rare Variants in Admixed Populations ⬇️

Tissue-specific RNA-Seq in human evoked inflammation identifies blood and adipose LincRNA signatures of cardiometabolic diseases