Publications
Identification and localization of mutations at the Lesch-Nyhan locus by ribonuclease A cleavage. Science. 1987 ;236(4799):303-5.
. The molecular basis of the sparse fur mouse mutation. Science. 1987 ;237(4813):415-7.
. Molecular characterization of 125I decay and X-ray-induced HPRT mutants in CHO cells. Int J Radiat Biol Relat Stud Phys Chem Med. 1987 ;51(2):193-9.
. Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res. 1988 ;16(23):11141-56.
. Diagnosis of human heritable defects by recombinant DNA methods. Philos Trans R Soc Lond B Biol Sci. 1988 ;319(1194):353-60.
. Expression of the murine Duchenne muscular dystrophy gene in muscle and brain. Science. 1988 ;239(4846):1416-8.
. Generation of cDNA probes directed by amino acid sequence: cloning of urate oxidase. Science. 1988 ;239(4845):1288-91.
. Automated DNA sequencing methods for detection and analysis of mutations: applications to the Lesch-Nyhan syndrome. Trans Assoc Am Physicians. 1989 ;102:185-94.
. Deletion screening at the hypoxanthine-guanine phosphoribosyltransferase locus in Chinese hamster cells using the polymerase chain reaction. Teratog Carcinog Mutagen. 1989 ;9(3):177-87.
. Detection of single DNA base differences by competitive oligonucleotide priming. Nucleic Acids Res. 1989 ;17(7):2437-48.
. DNA amplification by the polymerase chain reaction. Anal Chem. 1990 ;62(13):1202-14.
. Long HIV-1 incubation periods and dynamics of transmission within a family. Lancet. 1990 ;336(8708):134-6.
. 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.
. 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.
. Genotypic confirmation from the original dried blood specimens in a neonatal hemoglobinopathy screening program. Pediatr Res. 1992 ;31(3):217-21.
. 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.
. 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.
. A transposon-like element in the deletion-prone region of the dystrophin gene. Genomics. 1992 ;13(3):594-600.
. Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy. Science. 1993 ;260(5105):235-8.
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