Publications
Aberrant TGF-beta production and regulation in metastatic malignancy. Growth Factors. 1990 ;3(2):115-27.
. 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.
. 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.
. . Genotypic confirmation from the original dried blood specimens in a neonatal hemoglobinopathy screening program. Pediatr Res. 1992 ;31(3):217-21.
. Integrating the UMLS into VNS Retriever. Proc Annu Symp Comput Appl Med Care. 1992 ;:273-7.
. Collaborative Social and Medical Service System. Proc Annu Symp Comput Appl Med Care. 1994 ;:614-8.
. . Analysis of human immunodeficiency virus type 1 integrase mutants. Virology. 1995 ;211(1):332-5.
. Automated MeSH indexing of the World-Wide Web. Proc Annu Symp Comput Appl Med Care. 1995 ;:893-7.
. Collaborative social and medical service application. Medinfo. 1995 ;8 Pt 2:1671.
. A proposed architecture for ambulatory systems development. Medinfo. 1995 ;8 Pt 1:363-6.
. A server architecture for ambulatory patient record systems. Medinfo. 1995 ;8 Pt 1:219-22.
. BCM Search Launcher--an integrated interface to molecular biology data base search and analysis services available on the World Wide Web. Genome Res. 1996 ;6(5):454-62.
. Duplication of a gene-rich cluster between 16p11.1 and Xq28: a novel pericentromeric-directed mechanism for paralogous genome evolution. Hum Mol Genet. 1996 ;5(7):899-912.
. Genomic organization of the mouse double minute 2 gene. Gene. 1996 ;175(1-2):209-13.
. 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.
. Beyond one gene-one disease: alternative strategies for deciphering genetic determinants of osteoporosis. Calcif Tissue Int. 1997 ;60(3):225-8.
. Molecular and phenotypic variation in patients with severe Hunter syndrome. Hum Mol Genet. 1997 ;6(3):479-86.
. Using BODIPY dye-primer chemistry in large-scale sequencing. IEEE Eng Med Biol Mag. 1998 ;17(6):88-93.
. Identification of three novel Ca(2+) channel gamma subunit genes reveals molecular diversification by tandem and chromosome duplication. Genome Res. 1999 ;9(12):1204-13.
. Three common CFTR mutations should be included in a neonatal screening programme for cystic fibrosis in Sweden. Clin Genet. 1999 ;56(4):318-22.
. AluY insertion (IVS4-52ins316alu) in the glycerol kinase gene from an individual with benign glycerol kinase deficiency. Hum Mutat. 2000 ;15(4):316-23.
. AluY insertion (IVS4-52ins316alu) in the glycerol kinase gene from an individual with benign glycerol kinase deficiency. Hum Mutat. 2000 ;15(4):316-23.
. A BAC-based physical map of the major autosomes of Drosophila melanogaster. Science. 2000 ;287(5461):2271-4.
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