Publications
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.
. A transposon-like element in the deletion-prone region of the dystrophin gene. Genomics. 1992 ;13(3):594-600.
. 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.
. . 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.
. 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.
. Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA. Proc Natl Acad Sci U S A. 1989 ;86(6):1919-23.
. 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.
. The genetic structure of mouse ornithine transcarbamylase. Nucleic Acids Res. 1988 ;16(4):1593-601.
. 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.
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