ContextCurrent recommendations for women who have a BRCA1 or BRCA2 mutation are to
undergo breast surveillance from age 25 years onward with mammography annually and …

Megalencephaly-capillary malformation (MCAP) and megalencephaly-polymicrogyria-polydactyly-hydrocephalus
(MPPH) syndromes are sporadic overgrowth disorders associated …

Background Some copy-number variants are associated with genomic disorders with
extreme phenotypic heterogeneity. The cause of this variation is unknown, which presents …

Recombination between repeated sequences at various loci of the human genome are known
to give rise to DNA rearrangements associated with many genetic disorders 1. Perhaps …

Background Women with a BRCA1 or BRCA2 mutation face high risks of breast and ovarian
cancer. In the current study, we report on uptake of cancer screening and risk-reduction …

Purpose The Ontario Breast Screening Program expanded in July 2011 to screen women
age 30 to 69 years at high risk for breast cancer with annual magnetic resonance imaging (MRI…

Background Existing evidence on the effects of race and ethnicity on pregnancy outcomes is
restricted to individual studies done within specific countries and health systems. We aimed …

Coffin–Siris and Nicolaides–Baraitser syndromes (CSS and NCBRS) are Mendelian disorders
caused by mutations in subunits of the BAF chromatin remodeling complex. We report …

Numerous studies have demonstrated that Huntington's disease mutation-carriers have
deficient explicit recognition of isolated facial expressions. There are no studies, however, which …

Branchio‐oculo‐facial syndrome (BOFS; OMIM#113620) is a rare autosomal dominant
craniofacial disorder with variable expression. Major features include cutaneous and ocular …