Publications
Expression of human immunodeficiency virus type 1 reverse transcriptase in trans during virion release and after infection. J Virol. 1996 ;70(6):3870-5.
. Expression of the murine Duchenne muscular dystrophy gene in muscle and brain. Science. 1988 ;239(4846):1416-8.
. The extent of genetic variation in the CCR5 gene. Nat Genet. 1997 ;16(3):221-2.
. EYS-Associated Sector Retinitis Pigmentosa. Graefes Arch Clin Exp Ophthalmol. 2022 ;260(4):1405-1413.
. A framework for the interpretation of de novo mutation in human disease. Nat Genet. 2014 ;46(9):944-50.
. Functional annotation of rare gene aberration drivers of pancreatic cancer. Nat Commun. 2016 ;7:10500.
. Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide. Eur J Hum Genet. 2020 ;28(9):1243-1264.
. A functional variomics tool for discovering drug-resistance genes and drug targets. Cell Rep. 2013 ;3(2):577-85.
. Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data. Clin Genet. 2017 ;92(2):188-198.
. G309D and W437OPA PINK1 mutations in Caucasian Parkinson's disease patients. Acta Neurol Scand. 2005 ;111(6):351-2.
. Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model. Nat Med. 2012 ;18(9):1423-8.
. Gene Therapy Rescues Retinal Degeneration in Receptor Expression-Enhancing Protein 6 Mutant Mice. Hum Gene Ther. 2019 ;30(3):302-315.
. Generation and testing of mutants of Enterococcus faecalis in a mouse peritonitis model. J Infect Dis. 1998 ;178(5):1416-20.
. Genetic and clinical analysis of ABCA4-associated disease in African American patients. Hum Mutat. 2014 ;35(10):1187-94.
. Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1. Mol Genet Genomic Med. 2020 ;8(1):e1023.
. Genetic basis for in vivo daptomycin resistance in enterococci. N Engl J Med. 2011 ;365(10):892-900.
. The Genetic Causes of Nonsyndromic Congenital Retinal Detachment: A Genetic and Phenotypic Study of Pakistani Families. Invest Ophthalmol Vis Sci. 2017 ;58(2):1028-1036.
. The genetic determinants of recurrent somatic mutations in 43,693 blood genomes. Sci Adv. 2023 ;9(17):eabm4945.
. Genetics of schizophrenia in the South African Xhosa. Science. 2020 ;367(6477):569-573.
. Genome-wide single nucleotide polymorphism arrays as a diagnostic tool in patients with synchronous endometrial and ovarian cancer. Int J Gynecol Cancer. 2012 ;22(5):725-31.
. Genome-wide survey of SNP variation uncovers the genetic structure of cattle breeds. Science. 2009 ;324(5926):528-32.
. Genomic Alterations of Adamantinomatous and Papillary Craniopharyngioma. J Neuropathol Exp Neurol. 2017 ;76(2):126-134.
. Genomic analyses identify molecular subtypes of pancreatic cancer. Nature. 2016 ;531(7592):47-52.
. Genomic analysis and preclinical xenograft model development identify potential therapeutic targets for MYOD1-mutant soft-tissue sarcoma of childhood. J Pathol. 2021 ;255(1):52-61.
. Genomic and Molecular Landscape of DNA Damage Repair Deficiency across The Cancer Genome Atlas. Cell Rep. 2018 ;23(1):239-254.e6.
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