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- 2024
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Mark
Exonic trinucleotide repeat expansions in ZFHX3 cause spinocerebellar ataxia type 4 : A poly-glycine disease
(
- Contribution to journal › Article
- 2022
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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
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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
A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids
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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
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
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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
- 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
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
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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
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
Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects
(
- 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
(
- Contribution to journal › Article
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Mark
CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays
(
- 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.
(
- 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
(
- Contribution to journal › Article
-
Mark
Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks.
(
- Contribution to journal › Article
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Mark
Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol.
(
- 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.
(
- 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
(
- 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.
(
- Contribution to journal › Article
- 2013
-
Mark
Fine-Scale Mapping of the FGFR2 Breast Cancer Risk Locus: Putative Functional Variants Differentially Bind FOXA1 and E2F1
(
- Contribution to journal › Article
- 2012
-
Mark
SHANK1 Deletions in Males with Autism Spectrum Disorder
(
- Contribution to journal › Article
-
Mark
Large-Scale Gene-Centric Meta-analysis across 32 Studies Identifies Multiple Lipid Loci
(
- Contribution to journal › Article
-
Mark
Large-Scale Gene-Centric Meta-Analysis across 39 Studies Identifies Type 2 Diabetes Loci
(
- Contribution to journal › Article
-
Mark
Mutations in Calmodulin Cause Ventricular Tachycardia and Sudden Cardiac Death
(
- Contribution to journal › Article
- 2011
-
Mark
Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height
(
- Contribution to journal › Article
-
Mark
VPS35 Mutations in Parkinson Disease
(
- Contribution to journal › Article
-
Mark
Blood Pressure Loci Identified with a Gene-Centric Array
(
- Contribution to journal › Article
- 2010
-
Mark
A Missense Mutation in the Aggrecan C-type Lectin Domain Disrupts Extracellular Matrix Interactions and Causes Dominant Familial Osteochondritis Dissecans
(
- Contribution to journal › Article
- 2009
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Mark
Mutations in a BTB-Kelch Protein, KLHL7, Cause Autosomal-Dominant Retinitis Pigmentosa
(
- Contribution to journal › Article
-
Mark
Gene-centric Association Signals for Lipids and Apolipoproteins Identified via the HumanCVD BeadChip
(
- Contribution to journal › Article
-
Mark
Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism
(
- Contribution to journal › Article
- 2008
-
Mark
Independent introduction of two lactase-persistence alleles into human populations reflects different history of adaptation to milk culture
(
- Contribution to journal › Article
-
Mark
Identifying Genetic Traces of Historical Expansions : Phoenician Footprints in the Mediterranean
(
- Contribution to journal › Article
-
Mark
Y-Chromosomal Diversity in Lebanon Is Structured by Recent Historical Events
(
- Contribution to journal › Article
- 2007
-
Mark
Associating mitochondrial DNA variation with complex traits - Reply to Elson et al.
(
- Contribution to journal › Letter
-
Mark
Evidence of still-ongoing convergence evolution of the lactase persistence T-13910 alleles in humans
(
- Contribution to journal › Article
-
Mark
Recurrent 10q22-q23 deletions: a genomic disorder on 10q associated with cognitive and behavioral abnormalities
(
- Contribution to journal › Article
- 2006
-
Mark
Comprehensive association testing of common mitochondrial DNA variation in metabolic disease
(
- Contribution to journal › Article
-
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.
(
- Contribution to journal › Article
-
Mark
Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration
(
- Contribution to journal › Article
- 2005
-
Mark
Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus
(
- Contribution to journal › Article
- 2004
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Mark
The Breakpoint Region of the Most Common Isochromosome, i(17q), in Human Neoplasia Is Characterized by a Complex Genomic Architecture with Large, Palindromic, Low-Copy Repeats.
(
- Contribution to journal › Article
-
Mark
Deficiency of GDP-Man:GlcNAc2-PP-Dolichol Mannosyltransferase Causes Congenital Disorder of Glycosylation Type Ik
(
- Contribution to journal › Article
- 2003
-
Mark
Localization of a novel melanoma susceptibility locus to 1p22
(
- Contribution to journal › Article
-
Mark
Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: A combined analysis of 22 studies
(
- Contribution to journal › Article
-
Mark
A novel chromosomal translocation t(3;7)(q26;q21) in myeloid leukemia resulting in overexpression of EVI1
(
- Contribution to journal › Published meeting abstract
- 2002
-
Mark
GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L
(
- Contribution to journal › Article
-
Mark
Genomewide search for type 2 diabetes mellitus susceptibility loci in Finnish families: the Botnia study.
(
- Contribution to journal › Article
-
Mark
A variation in 3 ' UTR of hPTP1B increases specific gene expression and associates with insulin resistance
(
- Contribution to journal › Article
- 2001
-
Mark
SR-B1 variants associated with HDL cholesterol levels in three populations
(
- Contribution to journal › Article
-
Mark
Essential genetics education for non-genetics health professionals (EC Project GenEd)
(
- Contribution to journal › Article
-
Mark
Linkage disequilibrium at PPARG and other genes assessed with dense sets of SNPs.
(
- Contribution to journal › Article
-
Mark
Limitations of chromosome classification by multicolor karyotyping
(
- Contribution to journal › Article
-
Mark
Somatic mosaicism in hemophilia A: A fairly common event
(
- Contribution to journal › Article
-
Mark
Genomewide linkage analysis of stature in multiple populations reveals several regions with evidence of linkage to adult height
(
- Contribution to journal › Article
-
Mark
Novel TFAP2B mutations that cause Char syndrome provide a genotype-phenotype correlation
(
- Contribution to journal › Article
- 2000
-
Mark
Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency - A neurometabolic disorder associated with reduced L-serine biosynthesis
(
- Contribution to journal › Article
- 1998
-
Mark
NAGLU mutations underlying Sanfilippo syndrome type B
(
- Contribution to journal › Article
- 1997
-
Mark
Moderate frequency of BRCA1 and BRCA2 germ-line mutations in Scandinavian familial breast cancer
(
- Contribution to journal › Article
-
Mark
Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: Paucity of mutations in the coding region, but splice defects in two families
(
- Contribution to journal › Article
-
Mark
Molecular/structural characterization of novel mutations and identification of novel polymorphisms in the Bruton's tyrosine kinase (Btk) gene from patients with X-linked agammaglobulinemia (XLA).
(
- Contribution to journal › Published meeting abstract
-
Mark
Family cell lines available for research - An endangered resource? [7]
(
- Contribution to journal › Letter
- 1996
-
Mark
Founding BRCA1 Mutations in Hereditary Breast and Ovarian Cancer in Southern Sweden
(
- Contribution to journal › Article
- 1993
-
Mark
HLA-DQ primarily confers protection and HLA-DR susceptibility in type I (insulin-dependent) diabetes studied in population-based affected families and controls
(
- Contribution to journal › Article
- 1988
-
Mark
The Malmo polymorphism of coagulation factor IX, an immunologic polymorphism due to dimorphism of residue 148 that is in linkage disequilibrium with two other F.IX polymorphisms
(
- Contribution to journal › Article