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Exome Sequencing Analysis in Severe, Early-Onset Chronic Obstructive Pulmonary Disease. Am J Respir Crit Care Med 193, 1353-63 (2016).
FARVATX: Family-Based Rare Variant Association Test for X-Linked Genes. Genet Epidemiol 40, 475-85 (2016).
Gene-based segregation method for identifying rare variants in family-based sequencing studies. Genet Epidemiol 41, 309-319 (2017).
Increasing Generality and Power of Rare-Variant Tests by Utilizing Extended Pedigrees. Am J Hum Genet 99, 846-859 (2016).
Inherited causes of clonal haematopoiesis in 97,691 whole genomes. Nature 586, 763-768 (2020).
PRIMUS: rapid reconstruction of pedigrees from genome-wide estimates of identity by descent. Am J Hum Genet 95, 553-64 (2014).
Whole exome sequencing analysis in severe chronic obstructive pulmonary disease. Hum Mol Genet 27, 3801-3812 (2018).