- Human genome sequencing in health and diseaseClaudia Gonzaga-Jauregui
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Annu Rev Med 63:35-61. 2012..Personal genome sequencing may eventually become an instrument of common medical practice, providing information that assists in the formulation of a differential diagnosis. We outline herein some of the remaining challenges...
- Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican populationClaudia Gonzaga-Jauregui
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
Eur J Hum Genet 23:342-6. 2015..We identified a homozygous missense variant p.(Gly697Arg) in COL27A1, in a family with Steel syndrome and no consanguinity. Interestingly, the identified variant seems to have arisen as a founder mutation in the Puerto Rican population. ..