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- 2024
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Mark
Genome-wide analyses reveal a potential role for the MAPT, MOBP, and APOE loci in sporadic frontotemporal dementia
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- Contribution to journal › Article
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Mark
Exonic trinucleotide repeat expansions in ZFHX3 cause spinocerebellar ataxia type 4 : A poly-glycine disease
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- Contribution to journal › Article
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Mark
KnockoffHybrid : A knockoff framework for hybrid analysis of trio and population designs in genome-wide association studies
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- Contribution to journal › Article
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Mark
Integrative multi-omics analyses to identify the genetic and functional mechanisms underlying ovarian cancer risk regions
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- Contribution to journal › Article
- 2022
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Mark
A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids
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- Contribution to journal › Article
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Mark
EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis
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- Contribution to journal › Article
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Mark
Rare coding variants in 35 genes associate with circulating lipid levels—A multi-ancestry analysis of 170,000 exomes
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- Contribution to journal › Article
- 2021
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Mark
Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element
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- Contribution to journal › Article
- 2020
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Mark
Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk
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- Contribution to journal › Article
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Mark
Genome-wide Association Analysis in Humans Links Nucleotide Metabolism to Leukocyte Telomere Length
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- Contribution to journal › Article
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Mark
Global Public Perceptions of Genomic Data Sharing : What Shapes the Willingness to Donate DNA and Health Data?
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- Contribution to journal › Article
- 2019
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Mark
Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes
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- Contribution to journal › Article
- 2018
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Mark
A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure
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- Contribution to journal › Article
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Mark
Haplotype Sharing Provides Insights into Fine-Scale Population History and Disease in Finland
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- Contribution to journal › Article
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Mark
Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects
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- Contribution to journal › Article
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Mark
Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders
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- Contribution to journal › Article
- 2017
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Mark
Low-Frequency Synonymous Coding Variation in CYP2R1 Has Large Effects on Vitamin D Levels and Risk of Multiple Sclerosis
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- Contribution to journal › Article
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Mark
Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans
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- Contribution to journal › Article
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Mark
CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays
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- Contribution to journal › Article
- 2016
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Mark
Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects
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- Contribution to journal › Article
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Mark
Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits
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- Contribution to journal › Article
- 2014
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Mark
Genome-wide Association Study Identifies Five Susceptibility Loci for Follicular Lymphoma outside the HLA Region.
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- Contribution to journal › Article
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Mark
Immunochip analysis identifies multiple susceptibility Loci for systemic sclerosis.
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- Contribution to journal › Article
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Mark
Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks.
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- Contribution to journal › Article
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Mark
A Novel Test for Recessive Contributions to Complex Diseases Implicates Bardet-Biedl Syndrome Gene BBS10 in Idiopathic Type 2 Diabetes and Obesity
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- Contribution to journal › Article
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Mark
Gene-centric Meta-analysis in 87,736 Individuals of European Ancestry Identifies Multiple Blood-Pressure-Related Loci.
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- Contribution to journal › Article
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Mark
Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol.
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- Contribution to journal › Article
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Mark
Meta-Analysis of Genome-Wide Association Studies Identifies 1q22 as a Susceptibility Locus for Intracerebral Hemorrhage.
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- Contribution to journal › Article
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Mark
Simulation of Finnish population history, guided by empirical genetic data, to assess power of rare-variant tests in Finland
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- Contribution to journal › Article
- 2013
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Mark
Fine-Scale Mapping of the FGFR2 Breast Cancer Risk Locus: Putative Functional Variants Differentially Bind FOXA1 and E2F1
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- Contribution to journal › Article
- 2012
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Mark
Large-Scale Gene-Centric Meta-analysis across 32 Studies Identifies Multiple Lipid Loci
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- Contribution to journal › Article
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Mark
Large-Scale Gene-Centric Meta-Analysis across 39 Studies Identifies Type 2 Diabetes Loci
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- Contribution to journal › Article
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Mark
SHANK1 Deletions in Males with Autism Spectrum Disorder
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- Contribution to journal › Article
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Mark
Mutations in Calmodulin Cause Ventricular Tachycardia and Sudden Cardiac Death
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- Contribution to journal › Article
- 2011
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Mark
Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height
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- Contribution to journal › Article
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Mark
VPS35 Mutations in Parkinson Disease
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- Contribution to journal › Article
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Mark
Blood Pressure Loci Identified with a Gene-Centric Array
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- Contribution to journal › Article
- 2010
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Mark
A Missense Mutation in the Aggrecan C-type Lectin Domain Disrupts Extracellular Matrix Interactions and Causes Dominant Familial Osteochondritis Dissecans
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- Contribution to journal › Article
- 2009
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Mark
Gene-centric Association Signals for Lipids and Apolipoproteins Identified via the HumanCVD BeadChip
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- Contribution to journal › Article
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Mark
Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism
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- Contribution to journal › Article
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Mark
Mutations in a BTB-Kelch Protein, KLHL7, Cause Autosomal-Dominant Retinitis Pigmentosa
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- Contribution to journal › Article
- 2008
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Mark
Independent introduction of two lactase-persistence alleles into human populations reflects different history of adaptation to milk culture
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- Contribution to journal › Article
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Mark
Identifying Genetic Traces of Historical Expansions : Phoenician Footprints in the Mediterranean
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- Contribution to journal › Article
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Mark
Y-Chromosomal Diversity in Lebanon Is Structured by Recent Historical Events
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- Contribution to journal › Article
- 2007
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Mark
Associating mitochondrial DNA variation with complex traits - Reply to Elson et al.
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- Contribution to journal › Letter
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Mark
Recurrent 10q22-q23 deletions: a genomic disorder on 10q associated with cognitive and behavioral abnormalities
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- Contribution to journal › Article
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Mark
Evidence of still-ongoing convergence evolution of the lactase persistence T-13910 alleles in humans
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- Contribution to journal › Article
- 2006
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Mark
Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration
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- Contribution to journal › Article
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Mark
Comprehensive association testing of common mitochondrial DNA variation in metabolic disease
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- Contribution to journal › Article
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Mark
Genetic mapping at 3-kilobase resolution reveals inositol 1,4,5-triphosphate receptor 3 as a risk factor for type 1 diabetes in Sweden.
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- Contribution to journal › Article