Published in Am J Hum Genet on February 01, 1991
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Diverse point mutations in the human glucose-6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe hemolytic anemia. Proc Natl Acad Sci U S A (1988) 2.33
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Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired. Nat Genet (1998) 2.26
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Alpha synuclein is present in Lewy bodies in sporadic Parkinson's disease. Mol Psychiatry (1998) 2.12
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X chromosome map at 75-kb STS resolution, revealing extremes of recombination and GC content. Genome Res (1997) 2.06
The fragile X mental retardation syndrome protein interacts with novel homologs FXR1 and FXR2. EMBO J (1995) 2.05
The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly. Hum Mol Genet (1999) 2.00
Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes. Hum Mol Genet (2001) 2.00
Addressing the challenges of the clinical application of pharmacogenetic testing. Clin Pharmacol Ther (2009) 1.99
Meta-analysis of genome-wide association studies for personality. Mol Psychiatry (2010) 1.96
RNase III cleavage is obligate for maturation but not for function of Escherichia coli pre-23S rRNA. Proc Natl Acad Sci U S A (1984) 1.96
A rodent-human hybrid containing Xq24-qter translocated to a hamster chromosome expresses the Xq27 folate-sensitive fragile site. Am J Med Genet (1986) 1.94
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Yeast artificial chromosomes with 200- to 800-kilobase inserts of human DNA containing HLA, V kappa, 5S, and Xq24-Xq28 sequences. Proc Natl Acad Sci U S A (1989) 1.66
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Two anonymous X-specific human sequences detecting restriction fragment length polymorphisms in region Xq26----qter. Somat Cell Mol Genet (1984) 1.65
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The oculocerebrorenal syndrome gene product is a 105-kD protein localized to the Golgi complex. Am J Hum Genet (1995) 1.64
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A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medication. Mol Psychiatry (2010) 1.61