Publications
.
A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis. Am J Med Genet A. 2018 ;176(4):1015-1022.
. Base-Biased Evolution of Disease-Associated Mutations in the Human Genome. Hum Mutat. 2016 ;37(11):1209-1214.
. Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans. Am J Hum Genet. 2016 ;99(4):886-893.
. Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability. Am J Hum Genet. 2016 ;98(1):202-9.
. Biological and clinical significance of somatic mutations in Langerhans cell histiocytosis and related histiocytic neoplastic disorders. Hematology Am Soc Hematol Educ Program. 2015 ;2015:559-64.
. Bacterial discrimination by dictyostelid amoebae reveals the complexity of ancient interspecies interactions. Curr Biol. 2013 ;23(10):862-72.
. Beta 2 adrenergic receptor 5' haplotypes influence promoter activity. Br J Pharmacol. 2002 ;137(8):1213-6.
. The beta-globin C-->G mutation at 6 bp 3' to the termination codon causes beta-thalassaemia by decreasing the mRNA level. Br J Haematol. 2002 ;118(2):671-6.
.