Association of CLEC16A with human common variable immunodeficiency disorder and role in murine B cells

The Diabetes Susceptibility Gene Clec16a Regulates Mitophagy

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B-cell deficiency and severe autoimmunity caused by deficiency of protein kinase C  

(2013) E. Salzer et al.   BLOOD

MonoMAC Syndrome in a Patient With a GATA2 Mutation: Case Report and Review of the Literature

(2013) J. F. Camargo et al.   CLINICAL INFECTIOUS DISEASES

From Identification to Characterization of the Multiple Sclerosis Susceptibility Gene CLEC16A

(2013) Tone Berge et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci

(2013) David A Hinds et al.   NATURE GENETICS

Genetic insights into common pathways and complex relationships among immune-mediated diseases

(2013) Miles Parkes et al.   NATURE REVIEWS GENETICS

Imputing Amino Acid Polymorphisms in Human Leukocyte Antigens

(2013) Xiaoming Jia et al.   PLoS One

A Hypermorphic Missense Mutation in PLCG2 , Encoding Phospholipase Cγ2, Causes a Dominantly Inherited Autoinflammatory Disease with Immunodeficiency

(2012) Qing Zhou et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Deleterious Mutations in LRBA Are Associated with a Syndrome of Immune Deficiency and Autoimmunity

(2012) Gabriela Lopez-Herrera et al.   AMERICAN JOURNAL OF HUMAN GENETICS

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity

(2012) Lam C Tsoi et al.   NATURE GENETICS

Improved whole-chromosome phasing for disease and population genetic studies

(2012) Olivier Delaneau et al.   NATURE METHODS

Drosophila Golgi membrane protein Ema promotes autophagosomal growth and function

(2012) S. Kim et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genome-wide association identifies diverse causes of common variable immunodeficiency

(2011) Jordan S. Orange et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Genetic CD21 deficiency is associated with hypogammaglobulinemia

(2011) Jens Thiel et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease

(2011) Gosia Trynka et al.   NATURE GENETICS

Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis

(2011) George F Mells et al.   NATURE GENETICS

A linear complexity phasing method for thousands of genomes

(2011) Olivier Delaneau et al.   NATURE METHODS

LocusZoom: regional visualization of genome-wide association scan results

(2010) R. J. Pruim et al.   BIOINFORMATICS

Exploring the CLEC16A gene reveals a MS-associated variant with correlation to the relative expression of CLEC16A isoforms in thymus

(2010) I-L Mero et al.   GENES AND IMMUNITY

The novel endosomal membrane protein Ema interacts with the class C Vps–HOPS complex to promote endosomal maturation

(2010) Sungsu Kim et al.   JOURNAL OF CELL BIOLOGY

CD81 gene defect in humans disrupts CD19 complex formation and leads to antibody deficiency

(2010) Menno C. van Zelm et al.   JOURNAL OF CLINICAL INVESTIGATION

Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency

(2010) Ricardo C Ferreira et al.   NATURE GENETICS

Multiple common variants for celiac disease influencing immune gene expression

(2010) Patrick C A Dubois et al.   NATURE GENETICS

CD20 deficiency in humans results in impaired T cell–independent antibody responses

(2009) Taco W. Kuijpers et al.   JOURNAL OF CLINICAL INVESTIGATION

A Flexible and Accurate Genotype Imputation Method for the Next Generation of Genome-Wide Association Studies

(2009) Bryan N. Howie et al.   PLoS Genetics

BioGPS: an extensible and customizable portal for querying and organizing gene annotation resources

(2009) Chunlei Wu et al.   GENOME BIOLOGY

PGA: power calculator for case-control genetic association analyses

(2008) Idan Menashe et al.   BMC GENETICS

Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci

(2008) Jason D Cooper et al.   NATURE GENETICS