Jane Juusola
GenVec(US)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, RNA modifications and cancer, Congenital heart defects research, Ubiquitin and proteasome pathways
Most-Cited Works
- → Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling(2015)330 cited
- → De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability(2017)197 cited
- → PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution(2016)185 cited
- → The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families(2016)118 cited
- → Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism(2016)85 cited
- → Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies(2019)75 cited
- → De novo mutations in PURA are associated with hypotonia and developmental delay(2015)67 cited
- → De novo PHIP-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features(2016)65 cited
- → SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals(2019)64 cited
- → Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis(2016)63 cited