In IVF cycles, the application of aneuploidy testing at the blastocyst stage is quickly growing,
and the latest reports estimate almost half of cycles in the US undergo preimplantation …

Genome-wide association studies (GWASs) have identified hundreds of loci associated with
Crohn’s disease (CD). However, as with all complex diseases, robust identification of the …

… with an insertion of the last 91 nucleotides of IVS 6 (c.801 −91) between exon 6 and 7, …
This is suggestive but does not confirm pathogenicity of the c.801 −2 A−>G mutation within …

Objective To determine the predictive value of an aneuploid diagnosis with a targeted next-generation
sequencing–based preimplantation genetic testing for aneuploidy (PGT-A) assay …

Congenital diarrheal disorders (CDDs) are a collection of rare, heterogeneous enteropathies
with early onset and often severe outcomes. Here, we report a family of Ashkenazi Jewish …

Ethnic-specific differences in minor allele frequency impact variant categorization for genetic
screening of nonsyndromic hearing loss (NSHL) and other genetic disorders. We sought to …

… to lead to the loss of the C-terminal 502 amino acids. We did … 1C) are far larger because of
an N-terminal actin-binding domain, an intermediate multiple spectrin repeat domain, and a C-…

… in the 2 affected siblings harboring the SH2B3 c.671insGGCCCCG allele. Thus, we … with
a SH2B3 C-terminal antibody showed complete loss of SH2B3 protein expression in SH2B3 c.…

As part of a broader collaborative network of exome sequencing studies, we developed a
jointly called data set of 5,685 Ashkenazi Jewish exomes. We make publicly available a …

… initial denaturation at 94C for 5 min followed by 36 cycles of denaturation at 94C for 30 sec,
… 55 and 58C for 45 sec, and elongation at 72C for 30 sec with a final extension at 72C for 5 …