Alecia Willis
Sequenom (United States)(US)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Hearing, Cochlea, Tinnitus, Genetics, Folate and B Vitamins Research
Most-Cited Works
- → Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders(2013)1,960 cited
- → Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing(2014)1,387 cited
- → Functional Consequences of PRODH Missense Mutations(2005)149 cited
- → Multilocus Analysis of Hypertension: A Hierarchical Approach(2004)131 cited
- → Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel(2019)99 cited
- → Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations(2010)79 cited
- → Exploring the landscape of pathogenic genetic variation in the ExAC population database: insights of relevance to variant classification(2015)79 cited
- → BRCA Share: A Collection of Clinical BRCA Gene Variants(2016)64 cited
- → PRODH variants and risk for schizophrenia(2008)64 cited
- → Characterization of genomic structure and polymorphisms in the human carbamyl phosphate synthetase I gene(2003)56 cited