publication venue for
- Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database. 2010
- Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency. 2010
- Underrepresentation of racial and ethnic minorities in cascade testing for hereditary cancer syndromes.. 31. 2023
- Genetic correlations between traits associated with hyperuricemia, gout, and comorbidities.. 29. 2021
- Identification of genetic variants controlling RNA editing and their effect on RNA structure stabilization.. 28. 2020
- Case-control analysis identifies shared properties of rare germline variation in cancer predisposing genes.. 27. 2019
- Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers.. 25. 2017
- The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.. 24. 2015
- Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility.. 23. 2014
- SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors.. 23. 2014
- Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7.. 21. 2012
- Characterization of autosomal copy-number variation in African Americans: the HyperGEN Study.. 19. 2011
- Replication of the Wellcome Trust genome-wide association study of essential hypertension: the Family Blood Pressure Program.. 16. 2008
- Variable selection in logistic regression for detecting SNP-SNP interactions: the rheumatoid arthritis example.. 16. 2008
- Model-fitting and linkage analysis of sodium-lithium countertransport.. 12. 2004
- Combined analysis of genomewide scans for adult height: results from the NHLBI Family Blood Pressure Program.. 11. 2003
- A genome scan for loci influencing anti-atherogenic serum bilirubin levels.. 10. 2002
- Segregation analysis of HDL cholesterol in the NHLBI Family Heart Study and in Utah pedigrees.. 10. 2002
- Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia.. 9. 2001