Published in Hum Mutat on August 21, 2015
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Legius syndrome in fourteen families. Hum Mutat (2011) 0.95
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DNA polymerase-α regulates the activation of type I interferons through cytosolic RNA:DNA synthesis. Nat Immunol (2016) 0.93
De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability. Hum Mutat (2016) 0.85
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Neurofibromatosis type 1: a common familial cancer syndrome. Methods Mol Med (2004) 0.75
Autism in neurofibromatosis type 1: misuse of covariance to dismiss autistic trait burden. Dev Med Child Neurol (2020) 0.75
The importance of phase analysis in multiexon copy number variation detected by aCGH in autosomal recessive disorder loci. Am J Med Genet A (2017) 0.75