Publications
Automated DNA sequencing methods for detection and analysis of mutations: applications to the Lesch-Nyhan syndrome. Trans Assoc Am Physicians. 1989 ;102:185-94.
. DNA amplification by the polymerase chain reaction. Anal Chem. 1990 ;62(13):1202-14.
. Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families. Genomics. 1990 ;7(2):235-44.
. PCR test for cystic fibrosis deletion. Nature. 1990 ;343(6255):220.
. The use of primers from highly conserved pol regions to identify uncharacterized retroviruses by the polymerase chain reaction. J Virol Methods. 1990 ;28(1):33-46.
. Alu-primed polymerase chain reaction for regional assignment of 110 yeast artificial chromosome clones from the human X chromosome: identification of clones associated with a disease locus. Proc Natl Acad Sci U S A. 1991 ;88(14):6157-61.
. Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms. Am J Hum Genet. 1991 ;49(5):951-60.
. Evolution of human immunodeficiency virus type 1 nucleotide sequence diversity among close contacts. Proc Natl Acad Sci U S A. 1991 ;88(24):11236-40.
. Fidelity of targeted recombination in human fibroblasts and murine embryonic stem cells. Proc Natl Acad Sci U S A. 1991 ;88(18):8067-71.
. The molecular characterisation of HPRT CHERMSIDE and HPRT COORPAROO: two Lesch-Nyhan patients with reduced amounts of mRNA. Gene. 1991 ;108(2):299-304.
. Pentanucleotide repeat length polymorphism at the human CD4 locus. Nucleic Acids Res. 1991 ;19(17):4791.
. Polymerase chain reaction techniques. Curr Opin Biotechnol. 1991 ;2(1):69-75.
. Characterization of human genomic yeast artificial chromosome inserts containing hexokinase 1 coding information on chromosome 10. Biochem Med Metab Biol. 1992 ;47(3):265-9.
. A human dimorphism resulting from loss of an Alu. Genomics. 1992 ;14(3):590-7.
. Identification of a 2 base pair nonsense mutation causing a cryptic splice site in a DMD patient. Hum Mol Genet. 1992 ;1(8):645-6.
. Identification of new markers in Xp21 between DXS28 (C7) and DMD. Genomics. 1992 ;13(4):957-61.
. Polymerase chain reaction-based comprehensive procedure for the analysis of the mutation spectrum at the hypoxanthine-guanine phosphoribosyltransferase locus in Chinese hamster cells. Environ Mol Mutagen. 1992 ;19(4):267-73.
. A simple protocol for the automation of DNA cycle sequencing reactions and polymerase chain reactions. DNA Seq. 1992 ;3(1):17-23.
. Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy. Science. 1993 ;260(5105):235-8.
. Detection and significance of HIV sequences in HIV infection. Prog Med Virol. 1993 ;40:19-47.
. Fine structure of the human FMR1 gene. Hum Mol Genet. 1993 ;2(8):1147-53.
. Genomic scanning for expressed sequences in Xp21 identifies the glycerol kinase gene. Nat Genet. 1993 ;4(4):367-72.
. Multiple cDNA sequences of bovine tracheal lysozyme. J Biol Chem. 1993 ;268(36):27440-6.
. Multiplex DNA amplification and solid-phase direct sequencing for mutation analysis at the hprt locus in Chinese hamster cells. Mutat Res. 1993 ;288(2):237-48.
. Rapid characterization of HIV-1 sequence diversity using denaturing gradient gel electrophoresis and direct automated DNA sequencing of PCR products. PCR Methods Appl. 1993 ;2(4):293-300.
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