Publications
NMNAT1 E257K variant, associated with Leber Congenital Amaurosis (LCA9), causes a mild retinal degeneration phenotype. Exp Eye Res. 2018 ;173:32-43.
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Integrative genomic characterization of oral squamous cell carcinoma identifies frequent somatic drivers. Cancer Discov. 2013 ;3(7):770-81.
. Rapid identification of heterozygous mutations in Drosophila melanogaster using genomic capture sequencing. Genome Res. 2010 ;20(7):981-8.
. Levodopa-responsive aromatic L-amino acid decarboxylase deficiency. Ann Neurol. 2004 ;55(3):435-8.
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Beyond one gene-one disease: alternative strategies for deciphering genetic determinants of osteoporosis. Calcif Tissue Int. 1997 ;60(3):225-8.
. Analysis of human immunodeficiency virus type 1 integrase mutants. Virology. 1995 ;211(1):332-5.
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