Publications
Topical cholesterol/lovastatin for the treatment of porokeratosis: A pathogenesis-directed therapy. J Am Acad Dermatol 82, 123-131 (2020).
Targeted Treatment of Individuals With Psychosis Carrying a Copy Number Variant Containing a Genomic Triplication of the Glycine Decarboxylase Gene. Biol Psychiatry 86, 523-535 (2019).
TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease. Hum Mutat 41, 182-195 (2020).
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies. Am J Hum Genet 102, 985-994 (2018).
Towards population-scale long-read sequencing. Nat Rev Genet (2021). doi:10.1038/s41576-021-00367-3
Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features. Am J Med Genet A (2021). doi:10.1002/ajmg.a.62221
Transethnic Transferability of a Genome-Wide Polygenic Score for Coronary Artery Disease. Circ Genom Precis Med 14, e003092 (2021).
Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome. Am J Med Genet A 167A, 271-81 (2015).
Two novel germline DDX41 mutations in a family with inherited myelodysplasia/acute myeloid leukemia. Haematologica 101, e228-31 (2016).
Typical achondroplasia secondary to a unique insertional variant of FGFR3 with in vitro demonstration of its effect on FGFR3 function. Am J Med Genet A 185, 798-805 (2021).
Titin Truncating Variants in Adults Without Known Congestive Heart Failure. J Am Coll Cardiol 75, 1239-1241 (2020).
Type 2 and interferon inflammation regulate SARS-CoV-2 entry factor expression in the airway epithelium. Nat Commun 11, 5139 (2020).
Type 2 and interferon inflammation strongly regulate SARS-CoV-2 related gene expression in the airway epithelium. bioRxiv (2020). doi:10.1101/2020.04.09.034454
Two percent lovastatin ointment as a pathogenesis-directed monotherapy for porokeratosis. JAAD Case Rep 6, 1110-1112 (2020).
TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities. Am J Hum Genet 93, 197-210 (2013).
TBX6 null variants and a common hypomorphic allele in congenital scoliosis. N Engl J Med 372, 341-50 (2015).
TBX6 compound inheritance leads to congenital vertebral malformations in humans and mice. Hum Mol Genet 28, 539-547 (2019).