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32199 publications found in the database

*2011 (1784)

*Starting in 2010, coverage has been refocused on core journals.

2011 Publications

C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome
Arts, H. H. et al. Journal of Medical Genetics 48(6), 390-5, 2011, Human Mapping 500K Array SetMapping 500K  PubMed

Hearing function and thresholds: a genome-wide association study in European isolated populations identifies new loci and pathways
Girotto, G. et al. Journal of Medical Genetics 48(6), 369-74, 2011, Human Mapping 500K Array SetMapping 500K  PubMed

Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN
Maydan, G. et al. Journal of Medical Genetics 48(6), 383-9, 2011, Human Mapping 500K Array SetMapping 500K  PubMed

Increasing Power of Genome-Wide Association Studies by Collecting Additional Single-Nucleotide Polymorphisms
Kostem, E. et al. Genetics 188(2), 449-60, 2011, Human Mapping 500K Array SetMapping 500K  PubMed

Homozygosity Mapping Identifies the Crumbs Homologue 1 (Crb1) Gene as Responsible for a Recessive Syndrome of Retinitis Pigmentosa and Nanophthalmos
Zenteno, J. C. et al. American Journal of Medical Genetics Part a 115A(5), 1001-6, 2011, Human Mapping 500K Array SetMapping 500K  PubMed

Primary Ciliary Dyskinesia Caused by Homozygous Mutation in DNAL1, Encoding Dynein Light Chain 1
Mazor, M. et al. American Journal of Human Genetics 88(5), 599-607, 2011, Human Mapping 500K Array SetMapping 500K  PubMed

A Mutation in the Golgi Qb-SNARE Gene GOSR2 Causes Progressive Myoclonus Epilepsy with Early Ataxia
Corbett, M. A. et al. American Journal of Human Genetics 88(5), 657-63, 2011, Human Mapping 500K Array SetMapping 500K  PubMed

The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis
Kortuem, F. et al. Journal of Medical Genetics 48(6), 396-406, 2011, Human Mapping 500K Array SetMapping 500K  PubMed

Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease
Hollingworth, P. et al. Nature Genetics 43(5), NPG, 2011, Human Mapping 500K Array SetMapping 500K  PubMed

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