Publications
Investigation of the conformation of lactate dehydrogenase and of its catalytic activity. Biochim Biophys Acta. 1967 ;132(2):271-81.
. Fidelity of targeted recombination in human fibroblasts and murine embryonic stem cells. Proc Natl Acad Sci U S A. 1991 ;88(18):8067-71.
. Genotypic confirmation from the original dried blood specimens in a neonatal hemoglobinopathy screening program. Pediatr Res. 1992 ;31(3):217-21.
. Identification of new markers in Xp21 between DXS28 (C7) and DMD. Genomics. 1992 ;13(4):957-61.
. Genomic scanning for expressed sequences in Xp21 identifies the glycerol kinase gene. Nat Genet. 1993 ;4(4):367-72.
. 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.
. Yeast artificial chromosome cloning in the glycerol kinase and adrenal hypoplasia congenita region of Xp21. Genomics. 1993 ;16(2):407-16.
. Yeast artificial chromosome cloning in the glycerol kinase and adrenal hypoplasia congenita region of Xp21. Genomics. 1993 ;16(2):407-16.
. A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal. Nat Genet. 1994 ;7(4):497-501.
. A novel beta-thalassaemia mutation in the 5' untranslated region of the beta-globin gene. Br J Haematol. 1994 ;88(2):307-10.
. A comparative transcription map of the murine bare patches (Bpa) and striated (Str) critical regions and human Xq28. Genome Res. 1996 ;6(6):465-77.
. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet. 1997 ;15(1):62-9.
. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet. 1997 ;15(1):62-9.
. Test of the potential of a dATP surrogate for sequencing via MALDI-MS. Nucleic Acids Res. 1997 ;25(24):5072-6.
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AluY insertion (IVS4-52ins316alu) in the glycerol kinase gene from an individual with benign glycerol kinase deficiency. Hum Mutat. 2000 ;15(4):316-23.
. Construction of a high-resolution physical map of the chromosome 10q22-q23 dilated cardiomyopathy locus and analysis of candidate genes. Genomics. 2000 ;67(2):109-27.
. Fine mapping and characterization of candidate lung tumor resistance genes for the Par2 locus on mouse chromosome 18. Exp Lung Res. 2000 ;26(8):627-39.
. The genome sequence of Drosophila melanogaster. Science. 2000 ;287(5461):2185-95.
. The genome sequence of Drosophila melanogaster. Science. 2000 ;287(5461):2185-95.
. The genome sequence of Drosophila melanogaster. Science. 2000 ;287(5461):2185-95.
. The genome sequence of Drosophila melanogaster. Science. 2000 ;287(5461):2185-95.
. The genome sequence of Drosophila melanogaster. Science. 2000 ;287(5461):2185-95.
. The genome sequence of Drosophila melanogaster. Science. 2000 ;287(5461):2185-95.
. The genome sequence of Drosophila melanogaster. Science. 2000 ;287(5461):2185-95.
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