Background Mutations in LRRK2, the gene that encodes leucine-rich repeat kinase 2, are a
cause of Parkinson's disease (PD). The International LRRK2 Consortium was established to …

Importance Newborn screening for severe combined immunodeficiency (SCID) using
assays to detect T-cell receptor excision circles (TRECs) began in Wisconsin in 2008, and …

Parkinson's disease is a common disorder that leads to motor and cognitive disability. We
performed a genome-wide association study of 2,000 individuals with Parkinson's disease …

Our aim was to identify genes that influence the inverse association of coffee with the risk of
developing Parkinson's disease (PD). We used genome-wide genotype data and lifetime …

Background A functional repeat polymorphism in theSNCApromoter (REP1) conveys
susceptibility for Parkinson disease (PD). There is also increasing evidence that single …

Objective An inversion polymorphism of approximately 900kb on chromosome 17q21, which
includes the microtubule‐associated protein tau (MAPT) gene defines two haplotype clades …

Inverse associations of Parkinson's disease (PD) with cigarette smoking, coffee drinking,
and nonsteroidal anti‐inflammatory drug (NSAID) use have been reported individually, but …

Purpose To determine feasibility and utility of newborn screening for spinal muscular
atrophy (SMA) in New York State. Methods We validated a multiplex TaqMan real-time …

Sagittal craniosynostosis is the most common form of craniosynostosis, affecting
approximately one in 5,000 newborns. We conducted, to our knowledge, the first genome …

Purpose To describe the process and assess outcomes for the first 2 years of newborn
screening for severe combined immunodeficiency (SCID NBS) in New York State (NYS) …