Publications
Accounting for population structure in genetic studies of cystic fibrosis. HGG Adv. 2022 ;3(3):100117.
. Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. Am J Med Genet A. 2021 ;185(1):119-133.
. . Centers for Mendelian Genomics: A decade of facilitating gene discovery. Genet Med. 2022 ;24(4):784-797.
. Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child-parent trios and a case-control design to identify novel rare variants. Am J Med Genet A. 2023 ;191(6):1546-1556.
. Large-scale sequencing studies expand the known genetic architecture of Alzheimer's disease. Alzheimers Dement (Amst). 2021 ;13(1):e12255.
.