Marguerite Pietryga
Helen DeVos Children's Hospital(US)
Publications by Year
Research Areas
Autism Spectrum Disorder Research, Genomics and Chromatin Dynamics, RNA Research and Splicing, Peroxisome Proliferator-Activated Receptors, Metabolism, Diabetes, and Cancer
Most-Cited Works
- → Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies(2018)88 cited
- → De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females(2016)68 cited
- → Different newborn screening results in siblings with HSD17B4-related peroxisomal disorder(2024)