Maartje Pennings

TL;DR: Screening for variants in TPMT did not reduce the proportions of patients with hematologic ADRs during thiopurine treatment for IBD, but there was a 10-fold reduction in hematological ADRs among variant carriers who were identified and received a dose reduction, compared with variant carriersWho did not, without differences in treatment efficacy.

TL;DR: The identification of pathogenic variants in bicaudal D homolog 2 (Drosophila) (BICD2) in three families afflicted with autosomal-dominant SMA supports the conclusion that BICD 2 mutations cause congenital slowly progressive dominant SMA.

TL;DR: Clinical exome sequencing in this cohort of CA and HSP patients suggests broadening of disease spectra, revealed novel gene–disease associations, and uncovered unanticipated rare disorders.

TL;DR: KIF1A variants are a frequent cause of autosomal dominant spastic paraplegia in patients from a clinical exome sequencing cohort of 347 individuals with a mostly ‘pure’ spastic wraparound disease onset, and the identification of Kif1A loss-of-function variants suggests haploinsufficiency as a possible mechanism in autosomal Dominant Spastic Paraplegia.

TL;DR: Whole exome sequencing, followed by filtering for NMD genes, offers an unbiased approach for the genetic diagnostics of NMD patients, and could be used as a first-tier test in neuromuscular disorders with a high suspicion of a genetic cause.