Publications

Export 8 results:
Author Title [ Year(Asc)]
Filters: Author is Boerwinkle, Eric and Keyword is Genetic Predisposition to Disease  [Clear All Filters]
2020
Bick, A. G. et al. Inherited causes of clonal haematopoiesis in 97,691 whole genomes. Nature 586, 763-768 (2020).
Coban-Akdemir, Z. H. et al. Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation. Am J Med Genet A 182, 1387-1399 (2020).
2019
Posey, J. E. et al. Insights into genetics, human biology and disease gleaned from family based genomic studies. Genet Med 21, 798-812 (2019).
2016
Posey, J. E. et al. Molecular diagnostic experience of whole-exome sequencing in adult patients. Genet Med 18, 678-85 (2016).
Farlow, J. L. et al. Whole-Exome Sequencing in Familial Parkinson Disease. JAMA Neurol 73, 68-75 (2016).
2015
Watkin, L. B. et al. COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis. Nat Genet 47, 654-60 (2015).
Riveiro-Álvarez, R. et al. New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy. JAMA Ophthalmol 133, 133-9 (2015).
2011
Lupski, J. R., Belmont, J. W., Boerwinkle, E. & Gibbs, R. A. Clan genomics and the complex architecture of human disease. Cell 147, 32-43 (2011).