Published in Eur J Hum Genet on September 11, 2013
ESHRE PGD consortium best practice guidelines for amplification-based PGD. Hum Reprod (2010) 1.65
Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex. Hum Genet (2010) 1.34
Recurrence of perinatal lethal osteogenesis imperfecta in sibships: parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance. Genet Med (2011) 1.07
Mosaicism in sporadic neurofibromatosis type 1: variations on a theme common to other hereditary cancer syndromes? J Med Genet (2008) 1.01
Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome. Genet Med (2012) 0.99
Severe Lhermitte-Duclos disease with unique germline mutation of PTEN. Am J Med Genet (1999) 0.94