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Hypertension (Dallas, Tex. : 1979)|September 11, 2013
Target sequencing, cell experiments, and a population study establish endothelial nitric oxide synthase (eNOS) gene as hypertension susceptibility geneErika Salvi, Tatiana Kuznetsova, Lutgarde Thijs, et al.
JCI Insight|August 1, 2024
An atypical form of 60S ribosomal subunit in Diamond-Blackfan anemia linked to RPL17 variantsFlorence Fellmann, Carol Saunders, Marie-Françoise O'Donohue, et al.
Psychoneuroendocrinology|January 8, 2016
Orexin and sleep quality in anorexia nervosa: Clinical relevance and influence on treatment outcomeSarah Sauchelli, Susana Jiménez-Murcia, Isabel Sánchez, et al.
Annals of Clinical and Translational Neurology|August 31, 2024
Expert panel curation of 31 genes in relation to limb girdle muscular dystrophyShruthi Mohan, Shannon McNulty, Courtney Thaxton, et al.
Biorxiv : the Preprint Server for Biology|May 20, 2024
Expert Panel Curation of 31 Genes in Relation to Limb Girdle Muscular DystrophyShruthi Mohan, Shannon McNulty, Courtney Thaxton, et al.
Plos One|April 5, 2013
Rare genomic structural variants in complex disease: lessons from the replication of associations with obesityRobin G Walters, Lachlan J M Coin, Aimo Ruokonen, et al.
Biological Psychiatry|January 9, 2016
The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and InhibitionLoyse Hippolyte, Anne M Maillard, Borja Rodriguez-Herreros, et al.
European Journal of Human Genetics : EJHG|January 21, 2011
The phenotype of recurrent 10q22q23 deletions and duplicationsBregje W M van Bon, Jorune Balciuniene, Gary Fruhman, et al.
Plos Genetics|July 28, 2010
Genome-wide meta-analysis for serum calcium identifies significantly associated SNPs near the calcium-sensing receptor (CASR) geneKaren Kapur, Toby Johnson, Noam D Beckmann, et al.
Human Molecular Genetics|June 19, 2014
16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsyEva M Reinthaler, Dennis Lal, Sebastien Lebon, et al.
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