publication venue for
- Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome. 2023
- Further delineation of the SCAF4-associated neurodevelopmental disorder. 2024
- Are employees ready to engage in genetic cancer risk assessment in the workplace setting?. 33. 2024
- 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
- Rare variant associations with waist-to-hip ratio in European-American and African-American women from the NHLBI-Exome Sequencing Project.. 24. 2016
- Mucolipidosis types II and III and non-syndromic stuttering are associated with different variants in the same genes.. 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
- 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
- Haemoglobin D-Ouled Rabah among the Mozabites: a relevant variant to trace the origin of Berber-speaking populations.. 5. 1997
- Biological clock: biological clocks may modulate drug addiction.. 13. 2005
- A comprehensive SARS-CoV-2 and COVID-19 review, Part 2: host extracellular to systemic effects of SARS-CoV-2 infection. 2023
- Meta-analyses of genome-wide linkage scans of anxiety-related phenotypes. 2012