Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations

Tumor Necrosis Factor-α Induced Protein 8: Pathophysiology, Clinical Significance, and Regulatory Mechanism

(2018) Lei Zhang et al.   International Journal of Biological Sciences

Hyperpolarization-activated cyclic nucleotide–gated 2 (HCN2) ion channels drive pain in mouse models of diabetic neuropathy

(2017) Christoforos Tsantoulas et al.   Science Translational Medicine

MicroRNA-138 directly targets TNFAIP8 and acts as a tumor suppressor in osteosarcoma

(2017) Zheng Zhou et al.   Experimental and Therapeutic Medicine

Nanoparticle Targeting CD44-Positive Cancer Cells for Site-Specific Drug Delivery in Prostate Cancer Therapy

(2016) Wen-Ying Huang et al.   ACS Applied Materials & Interfaces

The novel p53 target TNFAIP8 variant 2 is increased in cancer and offsets p53-dependent tumor suppression

(2016) Julie M Lowe et al.   CELL DEATH AND DIFFERENTIATION

CD44 as a drug delivery target in human cancers: where are we now?

(2015) Ibrahim H Sahin et al.   EXPERT OPINION ON THERAPEUTIC TARGETS

Dysfunctional HCN ion channels in neurological diseases

(2015) Jacopo C. DiFrancesco et al.   Frontiers in Cellular Neuroscience

The circadian system of patients with bipolar disorder differs in episodes of mania and depression

(2014) Marta Nováková et al.   BIPOLAR DISORDERS

Selective Targeting of TGF-  Activation to Treat Fibroinflammatory Airway Disease

(2014) S. Minagawa et al.   Science Translational Medicine

Rev-erb-α modulates skeletal muscle oxidative capacity by regulating mitochondrial biogenesis and autophagy

(2013) Estelle Woldt et al.   NATURE MEDICINE

ParseCNV integrative copy number variation association software with quality tracking

(2013) Joseph T. Glessner et al.   NUCLEIC ACIDS RESEARCH

The NHGRI GWAS Catalog, a curated resource of SNP-trait associations

(2013) Danielle Welter et al.   NUCLEIC ACIDS RESEARCH

The significance of TNFAIP8 in prostate cancer response to radiation and docetaxel and disease recurrence

(2012) Chuanbo Zhang et al.   INTERNATIONAL JOURNAL OF CANCER

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

(2012) D. G. MacArthur et al.   SCIENCE

Hyaluronan-CD44 interactions as potential targets for cancer therapy

(2011) Suniti Misra et al.   FEBS Journal

Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome)

(2011) Donna M. McDonald-McGinn et al.   MEDICINE

Mapping copy number variation by population-scale genome sequencing

(2011) Ryan E. Mills et al.   NATURE

HCN2 Ion Channels Play a Central Role in Inflammatory and Neuropathic Pain

(2011) E. C. Emery et al.   SCIENCE

A Genome-wide Study Reveals Copy Number Variants Exclusive to Childhood Obesity Cases

(2010) Joseph T. Glessner et al.   AMERICAN JOURNAL OF HUMAN GENETICS

PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations

(2010) J. C. Denny et al.   BIOINFORMATICS

In vivo and in vitro genetic evidence of involvement of neuregulin 1 in immune system dysregulation

(2010) Ketan Marballi et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

(2010)   NATURE

Duplication of the SLIT3 Locus on 5q35.1 Predisposes to Major Depressive Disorder

(2010) Joseph T. Glessner et al.   PLoS One

Strong synaptic transmission impact by copy number variations in schizophrenia

(2010) J. T. Glessner et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease

(2009) Andy Itsara et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Augmented currents of an HCN2 variant in patients with febrile seizure syndromes

(2009) Leanne M. Dibbens et al.   ANNALS OF NEUROLOGY

High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications

(2009) T. H. Shaikh et al.   GENOME RESEARCH

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

(2009) Joseph T. Glessner et al.   NATURE

Velo-cardio-facial syndrome: 30 Years of study

(2008) Robert J. Shprintzen   Developmental Disabilities Research Reviews

ErbB receptors and the development of the nervous system

(2008) Carmen Birchmeier   EXPERIMENTAL CELL RESEARCH

Altered growth factor signaling pathways as the basis of aberrant stem cell maturation in schizophrenia

(2008) Hans O. Kalkman   PHARMACOLOGY & THERAPEUTICS