David Altshuler
YOU?
Author Swipe
View article: Elexacaftor/Tezacaftor/Ivacaftor and Neuropsychiatric Symptoms: Nonclinical and Clinical Studies
Elexacaftor/Tezacaftor/Ivacaftor and Neuropsychiatric Symptoms: Nonclinical and Clinical Studies Open
Rationale Cystic fibrosis (CF) is a chronic, life-limiting genetic disease. CFTR modulators such as elexacaftor (ELX)/tezacaftor (TEZ)/ivacaftor (IVA) have significantly improved clinical outcomes and quality of life for many people with C…
View article: Data from Haplotype Analysis of the <i>HSD17B1</i> Gene and Risk of Breast Cancer: A Comprehensive Approach to Multicenter Analyses of Prospective Cohort Studies
Data from Haplotype Analysis of the <i>HSD17B1</i> Gene and Risk of Breast Cancer: A Comprehensive Approach to Multicenter Analyses of Prospective Cohort Studies Open
The 17β-hydroxysteroid dehydrogenase 1 gene (HSD17B1) encodes 17HSD1, which catalyzes the final step of estradiol biosynthesis. Despite the important role of HSD17B1 in hormone metabolism, few epidemiologic studies of HSD1…
View article: Supplementary Tables 1S-7S, Figure 1S from Haplotype Analysis of the <i>HSD17B1</i> Gene and Risk of Breast Cancer: A Comprehensive Approach to Multicenter Analyses of Prospective Cohort Studies
Supplementary Tables 1S-7S, Figure 1S from Haplotype Analysis of the <i>HSD17B1</i> Gene and Risk of Breast Cancer: A Comprehensive Approach to Multicenter Analyses of Prospective Cohort Studies Open
Supplementary Tables 1S-7S, Figure 1S from Haplotype Analysis of the HSD17B1 Gene and Risk of Breast Cancer: A Comprehensive Approach to Multicenter Analyses of Prospective Cohort Studies
View article: Supplementary Methods and Tables 1-4 from Genetic Variation at the <i>CYP19A1</i> Locus Predicts Circulating Estrogen Levels but not Breast Cancer Risk in Postmenopausal Women
Supplementary Methods and Tables 1-4 from Genetic Variation at the <i>CYP19A1</i> Locus Predicts Circulating Estrogen Levels but not Breast Cancer Risk in Postmenopausal Women Open
Supplementary Methods and Tables 1-4 from Genetic Variation at the CYP19A1 Locus Predicts Circulating Estrogen Levels but not Breast Cancer Risk in Postmenopausal Women
View article: Data from Haplotype Analysis of the <i>HSD17B1</i> Gene and Risk of Breast Cancer: A Comprehensive Approach to Multicenter Analyses of Prospective Cohort Studies
Data from Haplotype Analysis of the <i>HSD17B1</i> Gene and Risk of Breast Cancer: A Comprehensive Approach to Multicenter Analyses of Prospective Cohort Studies Open
The 17β-hydroxysteroid dehydrogenase 1 gene (HSD17B1) encodes 17HSD1, which catalyzes the final step of estradiol biosynthesis. Despite the important role of HSD17B1 in hormone metabolism, few epidemiologic studies of HSD1…
View article: Supplementary Methods and Tables 1-4 from Genetic Variation at the <i>CYP19A1</i> Locus Predicts Circulating Estrogen Levels but not Breast Cancer Risk in Postmenopausal Women
Supplementary Methods and Tables 1-4 from Genetic Variation at the <i>CYP19A1</i> Locus Predicts Circulating Estrogen Levels but not Breast Cancer Risk in Postmenopausal Women Open
Supplementary Methods and Tables 1-4 from Genetic Variation at the CYP19A1 Locus Predicts Circulating Estrogen Levels but not Breast Cancer Risk in Postmenopausal Women
View article: Supplementary Tables 1S-7S, Figure 1S from Haplotype Analysis of the <i>HSD17B1</i> Gene and Risk of Breast Cancer: A Comprehensive Approach to Multicenter Analyses of Prospective Cohort Studies
Supplementary Tables 1S-7S, Figure 1S from Haplotype Analysis of the <i>HSD17B1</i> Gene and Risk of Breast Cancer: A Comprehensive Approach to Multicenter Analyses of Prospective Cohort Studies Open
Supplementary Tables 1S-7S, Figure 1S from Haplotype Analysis of the HSD17B1 Gene and Risk of Breast Cancer: A Comprehensive Approach to Multicenter Analyses of Prospective Cohort Studies
View article: Data from Genetic Variation at the <i>CYP19A1</i> Locus Predicts Circulating Estrogen Levels but not Breast Cancer Risk in Postmenopausal Women
Data from Genetic Variation at the <i>CYP19A1</i> Locus Predicts Circulating Estrogen Levels but not Breast Cancer Risk in Postmenopausal Women Open
The CYP19A1 gene encodes the enzyme aromatase, which is responsible for the final step in the biosynthesis of estrogens. In this study, we used a systematic two-step approach that included gene resequencing and a haplotype-based ana…
View article: Data from Genetic Variation at the <i>CYP19A1</i> Locus Predicts Circulating Estrogen Levels but not Breast Cancer Risk in Postmenopausal Women
Data from Genetic Variation at the <i>CYP19A1</i> Locus Predicts Circulating Estrogen Levels but not Breast Cancer Risk in Postmenopausal Women Open
The CYP19A1 gene encodes the enzyme aromatase, which is responsible for the final step in the biosynthesis of estrogens. In this study, we used a systematic two-step approach that included gene resequencing and a haplotype-based ana…
View article: The Type 2 Diabetes Knowledge Portal: An open access genetic resource dedicated to type 2 diabetes and related traits
The Type 2 Diabetes Knowledge Portal: An open access genetic resource dedicated to type 2 diabetes and related traits Open
View article: A non-randomized, open-label, dose-finding, first-in-human trial of combined cytotoxic and immune-stimulatory gene therapy for primary adult high-grade glioma: transgene expression persists up to 17 months post-vector injection
A non-randomized, open-label, dose-finding, first-in-human trial of combined cytotoxic and immune-stimulatory gene therapy for primary adult high-grade glioma: transgene expression persists up to 17 months post-vector injection Open
Background High-grade gliomas are fatal with universally poor prognosis. Initiation of effective cancer immune responses requires functional immune cells, particularly afferent antigen-presenting cells, which are typically absent from the …
View article: Anterior petrosal (Kawase) approach to petroclival meningioma: 2-dimensional operative video
Anterior petrosal (Kawase) approach to petroclival meningioma: 2-dimensional operative video Open
Petroclival meningiomas are challenging lesions that can be treated with several surgical approaches. The authors present a 66-year-old woman with a 1.6-cm left petroclival meningioma that was initially observed and then radiated after it …
View article: Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees
Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees Open
A major challenge in evaluating the contribution of rare variants to complex disease is identifying enough copies of the rare alleles to permit informative statistical analysis. To investigate the contribution of rare variants to the risk …
View article: Acknowledgments
Acknowledgments Open
Th ey helped analyze the DNA fi ndings and explained to me what it all meant (no easy task).
View article: CRISPR-Cas9 Gene Editing for Sickle Cell Disease and β-Thalassemia
CRISPR-Cas9 Gene Editing for Sickle Cell Disease and β-Thalassemia Open
Transfusion-dependent β-thalassemia (TDT) and sickle cell disease (SCD) are severe monogenic diseases with severe and potentially life-threatening manifestations. BCL11A is a transcription factor that represses γ-globin expression and feta…
View article: Loss-of-function mutations in SLC30A8 protect against type 2 diabetes
Loss-of-function mutations in SLC30A8 protect against type 2 diabetes Open
Loss-of-function mutations protective against human disease provide in vivo validation of therapeutic targets1,2,3, yet none are described for type 2 diabetes (T2D). Through sequencing or genotyping ~150,000 individuals across five ethnici…
View article: Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci
Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci Open
We performed fine-mapping of 39 established type 2 diabetes (T2D) loci in 27,206 cases and 57,574 controls of European ancestry. We identified 49 distinct association signals at these loci, including five mapping in/near KCNQ1. “Credible s…
View article: Whole-exome imputation of sequence variants identified two novel alleles associated with adult body height in African Americans
Whole-exome imputation of sequence variants identified two novel alleles associated with adult body height in African Americans Open
Adult body height is a quantitative trait for which genome-wide association studies (GWAS) have identified numerous loci, primarily in European populations. These loci, comprising common variants, explain <10% of the phenotypic variance in…
View article: Genome-Wide Association Study for Coronary Artery Calcification With Follow-Up in Myocardial Infarction
Genome-Wide Association Study for Coronary Artery Calcification With Follow-Up in Myocardial Infarction Open
Coronary artery calcification (CAC) detected by computed tomography is a non-invasive measure of coronary atherosclerosis, that underlies most cases of myocardial infarction (MI). We aimed to identify common genetic variants associated wit…
View article: Isolation and Characterization of Immune Cells from the Tumor Microenvironment of Genetically Engineered Pediatric High Grade Glioma Models Using the Sleeping Beauty Transposon System v1
Isolation and Characterization of Immune Cells from the Tumor Microenvironment of Genetically Engineered Pediatric High Grade Glioma Models Using the Sleeping Beauty Transposon System v1 Open
Gliomas are the most common malignant brain tumors in the pediatric population.Even though great efforts have been made to understand their distinctive molecular characteristics, there has not been any improvements in the median survival i…
View article: A reference panel of 64,976 haplotypes for genotype imputation
A reference panel of 64,976 haplotypes for genotype imputation Open
We describe a reference panel of 64,976 human haplotypes at 39,235,157 SNPs constructed using whole genome sequence data from 20 studies of predominantly European ancestry. Using this resource leads to accurate genotype imputation at minor…
View article: Transancestral fine-mapping of four type 2 diabetes susceptibility loci highlights potential causal regulatory mechanisms
Transancestral fine-mapping of four type 2 diabetes susceptibility loci highlights potential causal regulatory mechanisms Open
To gain insight into potential regulatory mechanisms through which the effects of variants at four established type 2 diabetes (T2D) susceptibility loci (CDKAL1, CDKN2A-B, IGF2BP2 and KCNQ1) are mediated, we undertook transancestral fine-m…
View article: Analysis of protein-coding genetic variation in 60,706 humans
Analysis of protein-coding genetic variation in 60,706 humans Open
Large-scale reference data sets of human genetic variation are critical for the medical and functional interpretation of DNA sequence changes. We describe the aggregation and analysis of high-quality exome (protein-coding region) sequence …
View article: Rare variant associations with waist-to-hip ratio in European-American and African-American women from the NHLBI-Exome Sequencing Project
Rare variant associations with waist-to-hip ratio in European-American and African-American women from the NHLBI-Exome Sequencing Project Open
Waist-to-hip ratio (WHR), a relative comparison of waist and hip circumferences, is an easily accessible measurement of body fat distribution, in particular central abdominal fat. A high WHR indicates more intra-abdominal fat deposition an…
View article: Association of Exome Sequences With Cardiovascular Traits among Blacks in the Jackson Heart Study
Association of Exome Sequences With Cardiovascular Traits among Blacks in the Jackson Heart Study Open
The correlation of null alleles with human phenotypes can provide insight into gene function in humans. In individuals of African ancestry, we set out to identify null and damaging missense variants, and test these variants for association…
View article: Common variants at 30 loci contribute to polygenic dyslipidemia
Common variants at 30 loci contribute to polygenic dyslipidemia Open
Blood low-density lipoprotein (LDL) cholesterol, high-density lipoprotein (HDL) cholesterol and triglyceride levels are risk factors for cardiovascular disease. To dissect the polygenic basis of these traits, we conducted genome-wide assoc…
View article: Case–control analysis identifies shared properties of rare germline variation in cancer predisposing genes
Case–control analysis identifies shared properties of rare germline variation in cancer predisposing genes Open
View article: Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes
Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes Open
Angiopoietin-like 4 (ANGPTL4) is an endogenous inhibitor of lipoprotein lipase that modulates lipid levels, coronary atherosclerosis risk, and nutrient partitioning. We hypothesize that loss of ANGPTL4 function might improve glucose homeos…
View article: Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees
Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees Open
Significance Contributions of rare variants to common and complex traits such as type 2 diabetes (T2D) are difficult to measure. This paper describes our results from deep whole-genome analysis of large Mexican-American pedigrees to unders…
View article: A Loss-of-Function Splice Acceptor Variant in <i>IGF2</i> Is Protective for Type 2 Diabetes
A Loss-of-Function Splice Acceptor Variant in <i>IGF2</i> Is Protective for Type 2 Diabetes Open
Type 2 diabetes (T2D) affects more than 415 million people worldwide, and its costs to the health care system continue to rise. To identify common or rare genetic variation with potential therapeutic implications for T2D, we analyzed and r…