Association of TMTC2 With Human Nonsyndromic Sensorineural Hearing Loss
June 16, 2016
Age-related mutations and chronic myelomonocytic leukemia
April 1, 2016
Targeted Deep Sequencing in Multiple-Affected Sibships of European Ancestry Identifies Rare Deleterious Variants in PTPN22 that Confer Risk for Type 1 Diabetes
March 2, 2016
Genetic variation may influence response to 17-alpha hydroxyprogesterone caproate (17P) for recurrent preterm birth (PTB) prevention
January 4, 2016
Gene set enrichment investigation of maternal exome variation in spontaneous preterm birth (SPTB)
January 1, 2016
Exome analysis of a family with Wolff-Parkinson-White syndrome identifies a novel disease locus.
August 18, 2015
Rare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke: The NHLBI Exome Sequence Project.
July 1, 2015
Shared Segment Analysis and Next-Generation Sequencing Implicates the Retinoic Acid Signaling Pathway in Total Anomalous Pulmonary Venous Return (TAPVR).
June 29, 2015
Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers.
March 9, 2015
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction
February 5, 2015
Identifying rare variants for genetic risk through a combined pedigree and phenotype approach: application to suicide and asthma.
October 21, 2014
Toolbox for mobile-element insertion detection on cancer genomes.
October 15, 2014
Novel somatic and germline mutations in intracranial germ cell tumours
June 10, 2014
A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data.
May 18, 2014
Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear families.
April 3, 2014