Center for Applied Genomics Publications

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Below is a list of selected publications from the Center for Applied Genomics. A complete list of publications can be found on PubMed.

COVID-19: Look to the Future, Learn from the Past
Viruses · October, 2020
ARAF recurrent mutation causes central conducting lymphatic anomaly treatable with a MEK inhibitor
Nat Med · July, 2019
CLEC16A regulates splenocyte and NK cell function in part through MEK signaling
PLoS One · September, 2018
Fasoracetam in adolescents with ADHD and glutamatergic gene network variants disrupting mGluR neurotransmitter signaling
Nat Commun · January, 2018
Genetic sharing and heritability of paediatric age of onset autoimmune diseases
Nat Commun · October, 2015
Association of CLEC16A with human common variable immunodeficiency disorder and role in murine B cells
Nat Commun · April, 2015
A genome-wide association meta-analysis identifies new childhood obesity loci
Nat Genet · May, 2012
Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder
Nat Genet · December, 2011
Integrative genomics identifies LMO1 as a neuroblastoma oncogene
Nature · January, 2011
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
Nucleic Acids Res · September, 2010
Strategies for genetic studies of complex diseases
Cell · August, 2010
Variants of DENND1B Associated with Asthma in Children
N Engl J Med · January, 2010
Common variants at five new loci associated with early-onset inflammatory bowel disease
Nat Genet · December, 2009
Copy number variation at 1q21.1 associated with neuroblastoma
Nature · June, 2009
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
Journal Article · May, 2009
Common genetic variants on 5p14.1 associate with autism spectrum disorders
Journal Article · May, 2009
Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease
Nature Genet · October, 2008
PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data
Genome Res · November, 2007
A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene
Nature · August, 2007