Wendy S. Meschino

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

Jean-Baptiste Rivière, Ghayda Mirzaa, Brian J. O’Roak et al. · Nature Genetics · 2012 · 737 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +11

Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

Santhosh Girirajan, Jill A. Rosenfeld, Bradley P. Coe et al. · New England Journal of Medicine · 2012 · 620 citations · Full text

Outcome after Maternal Varicella Infection in the First 20 Weeks of Pregnancy

Anne Pastuszak, Maurice Levy, Betsy Schick et al. · New England Journal of Medicine · 1994 · 440 citations · Full text

Molecular mechanism for duplication 17p11.2— the homologous recombination reciprocal of the Smith-Magenis microdeletion

Lorraine Potocki, Ken-Shiung Chen, Sung Sup Park et al. · Nature Genetics · 2000 · 422 citations · Full text

Genome Instability, Duplication 17P11.2—, Genetics +9

Prevalence and Penetrance of BRCA1 and BRCA2 Gene Mutations in Unselected Ashkenazi Jewish Women With Breast Cancer

Elizabeth Warner, William D. Foulkes, Pamela J. Goodwin et al. · JNCI Journal of the National Cancer Institute · 1999 · 391 citations · Full text