Published in J Natl Cancer Inst on May 07, 2003
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The absence of mitochondrial thioredoxin 2 causes massive apoptosis, exencephaly, and early embryonic lethality in homozygous mice. Mol Cell Biol (2003) 2.52
Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocol. Am J Med Genet (2002) 2.50
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Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci (2006) 1.85
Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion. Hum Mol Genet (2003) 1.82
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FOXC2 haploinsufficient mice are a model for human autosomal dominant lymphedema-distichiasis syndrome. Hum Mol Genet (2003) 1.55
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Intron-size constraint as a mutational mechanism in Rothmund-Thomson syndrome. Am J Hum Genet (2002) 1.52
Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease. Invest Ophthalmol Vis Sci (2012) 1.47
Autoantibodies to lipoprotein-related protein 4 in patients with double-seronegative myasthenia gravis. Arch Neurol (2011) 1.47
Prenatal screening and diagnosis for pediatricians. Pediatrics (2004) 1.46
Prenatal brain disruption in molybdenum cofactor deficiency. J Child Neurol (2011) 1.45
Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes. Hum Mutat (2008) 1.44
Clinical and molecular diagnosis should be consistent. Am J Med Genet A (2003) 1.44
Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome. Am J Med Genet A (2011) 1.43
Ganglioglioma in a Sotos syndrome patient with an NSD1 deletion. Am J Med Genet A (2004) 1.40
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Dominantly inherited nonprogressive cerebellar hypoplasia identified in utero. J Child Neurol (2012) 1.39
Early onset epileptic encephalopathy caused by de novo SCN8A mutations. Epilepsia (2014) 1.38
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Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion. Hum Mutat (2003) 1.38
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Prevalence and clinical correlates of JAK2 mutations in Down syndrome acute lymphoblastic leukaemia. Br J Haematol (2008) 1.34