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. 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
- Variable selection in logistic regression for detecting SNP-SNP interactions: the rheumatoid arthritis example.. 16. 2008
- Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia.. 9. 2001
- A comprehensive SARS-CoV-2 and COVID-19 review, Part 2: host extracellular to systemic effects of SARS-CoV-2 infection. 2023