Published in Eur J Hum Genet on April 16, 2014
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CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree. Eur J Hum Genet (2014) 0.89
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Methionyl-tRNA Formyltransferase (MTFMT) Deficiency Mimicking Acquired Demyelinating Disease. J Child Neurol (2015) 0.78
6q22.1 microdeletion and susceptibility to pediatric epilepsy. Eur J Hum Genet (2014) 0.77
Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability. Orphanet J Rare Dis (2016) 0.75
Comparison of three whole genome amplification methods for detection of genomic aberrations in single cells. Prenat Diagn (2016) 0.75
Variable levels of tissue mosaicism can confound the interpretation of chromosomal microarray results from peripheral blood. Eur J Med Genet (2014) 0.75