Claudia Gonzaga‐Jauregui
Publications by Year
Research Areas
Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Pulmonary Hypertension Research and Treatments, Immunodeficiency and Autoimmune Disorders
Most-Cited Works
- → Integrating common and rare genetic variation in diverse human populations(2010)3,177 cited
- → Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy(2010)763 cited
- → Exome sequencing and characterization of 49,960 individuals in the UK Biobank(2020)622 cited
- → Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study(2016)593 cited
- → Human Genome Sequencing in Health and Disease(2011)491 cited
- → Genetic identification of familial hypercholesterolemia within a single U.S. health care system(2016)426 cited
- → COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis(2015)389 cited
- → Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease(2015)333 cited
- → Whole-Genome Sequencing for Optimized Patient Management(2011)300 cited
- → Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy(2015)244 cited