Published in Am J Hum Genet on August 01, 1997
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Failure to detect connexin43 mutations in 38 cases of sporadic and familial heterotaxy. Circulation (1996) 1.65
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Autosomal dominant transmission of familial laterality defects. Am J Med Genet (1996) 0.85
Absence of mutations in the regulatory domain of the gap junction protein connexin 43 in patients with visceroatrial heterotaxy. Heart (1997) 0.82
Asplenia syndrome in a child with a balanced reciprocal translocation of chromosomes 11 and 20 [46,XX,t(11;20)(q13.1;q13.13)]. Am J Med Genet (1996) 0.81
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Different chromosomal localization of the Clcn4 gene in Mus spretus and C57BL/6J mice. Nat Genet (1995) 2.10
Cloning of the gene encoding a novel integral membrane protein, mucolipidin-and identification of the two major founder mutations causing mucolipidosis type IV. Am J Hum Genet (2000) 2.08
Identification of the gene for oral-facial-digital type I syndrome. Am J Hum Genet (2001) 2.07
X chromosome map at 75-kb STS resolution, revealing extremes of recombination and GC content. Genome Res (1997) 2.06
Serum leptin level is a regulator of bone mass. Proc Natl Acad Sci U S A (2004) 1.99
Meta-analysis of genome-wide association studies for personality. Mol Psychiatry (2010) 1.96
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Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome. Nat Genet (1995) 1.95
A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy. Cell (1995) 1.95
Evidence for a complex regulatory array in the first intron of the human adenosine deaminase gene. Genes Dev (1989) 1.93
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Interaction of plasma proteins and lipoproteins with amphotericin B. J Infect Dis (1984) 1.93
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Irreversible block of the mycelial-to-yeast phase transition of Histoplasma capsulatum. Science (1986) 1.78
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The Tabby phenotype is caused by mutation in a mouse homologue of the EDA gene that reveals novel mouse and human exons and encodes a protein (ectodysplasin-A) with collagenous domains. Proc Natl Acad Sci U S A (1997) 1.77
Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2. Clin Genet (2008) 1.77
Loss of dispensable endonuclease activity in relief of polarity by suA. Nat New Biol (1971) 1.76
Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome. Am J Hum Genet (1997) 1.74
The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy. Nat Genet (2000) 1.73
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Immotile sperm and infertility in mice lacking mitochondrial voltage-dependent anion channel type 3. J Biol Chem (2001) 1.72
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Deletions of the elastin gene at 7q11.23 occur in approximately 90% of patients with Williams syndrome. Am J Hum Genet (1995) 1.68
Targeted disruption of the mouse lysosomal acid lipase gene: long-term survival with massive cholesteryl ester and triglyceride storage. Hum Mol Genet (1998) 1.67
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Failure to detect connexin43 mutations in 38 cases of sporadic and familial heterotaxy. Circulation (1996) 1.65
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Brief report: intragenic deletion of the KALIG-1 gene in Kallmann's syndrome. N Engl J Med (1992) 1.58
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A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility. Am J Hum Genet (1998) 1.50
SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance. Nat Genet (1999) 1.50
Cytogenetic Nomenclature: Changes in the ISCN 2013 Compared to the 2009 Edition. Cytogenet Genome Res (2013) 1.50
Mental retardation in a boy with an interstitial deletion at Xp22.3 involving STS, KAL1, and OA1: implication for the MRX locus. Am J Med Genet (1996) 1.49
Submicroscopic deletions at 22q11.2: variability of the clinical picture and delineation of a commonly deleted region. Am J Med Genet (1995) 1.49