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Single-tube multiplex-PCR screen for common deletional determinants of α-thalassemia
-Thalassemia is very common throughout all tropical and subtropical regions of the world. In Southeast Asia and the Mediterranean regions, compound heterozygotes and homozygotes may have anemia thatExpand
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ABCD1 mutations and the X‐linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations
X‐linked adrenoleukodystrophy (X‐ALD) is caused by mutations in the ABCD1 gene, which encodes a peroxisomal ABC half‐transporter (ALDP) involved in the import of very long‐chain fatty acids (VLCFA)Expand
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Single-tube multiplex-PCR screen for common deletional determinants of alpha-thalassemia.
Alpha-thalassemia is very common throughout all tropical and subtropical regions of the world. In Southeast Asia and the Mediterranean regions, compound heterozygotes and homozygotes may have anemiaExpand
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The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.
Discovering the genetic basis of a Mendelian phenotype establishes a causal link between genotype and phenotype, making possible carrier and population screening and direct diagnosis. SuchExpand
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A new retrotransposable human L1 element from the LRE2 locus on chromosome 1q produces a chimaeric insertion
We have found a 2 kilobase insertion containing a rearranged L1 element in the dystrophin gene of a muscular dystrophy patient. We cloned the precursor of this insertion, the second known activeExpand
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Nonrandom association of polymorphic restriction sites in the beta-globin gene cluster.
By using probes for epsilon-, Psibeta(1)-, and beta-globin genes, we found four additional polymorphic restriction sites that have frequencies >0.1 in persons of Mediterranean area origin, AsianExpand
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Phylogeny of human beta-globin haplotypes and its implications for recent human evolution.
The evolutionary histories and relationships among African, Eurasian, and Pacific Island populations are investigated by using observations on five polymorphic restriction sites in the beta-globinExpand
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Nonuniform recombination within the human beta-globin gene cluster.
Population genetic analysis of 15 restriction site polymorphisms demonstrates nonuniform recombination within the human beta-globin gene cluster. These DNA polymorphisms show two clusters of highExpand
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Single-tube multiplex-PCR screen for common deletional determinants of α-thalassemia
-Thalassemia is very common throughout all tropical and subtropical regions of the world. In Southeast Asia and the Mediterranean regions, compound heterozygotes and homozygotes may have anemia thatExpand
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Linkage of β-thalassaemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene cluster
Combined analysis of DNA polymorphisms in the human β-globin gene cluster and in cloned β-genes has revealed the association of specific β-thalassaemia mutations and β-gene polymorphisms withExpand
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