Richard Dineen

Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes

Shawna M. Pyott, Ulrike Schwarze, Helena E. Christiansen et al. · Human Molecular Genetics · 2011 · 134 citations · Full text

Genetics, Osteogenesis, Molecular Genetics +19

De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder

Francesca Mattioli, Gaëlle Hayot, Nathalie Drouot et al. · The American Journal of Human Genetics · 2020 · 39 citations · Full text

Neurodevelopmental Disorders, Developmental Biology, Genetics +8

Evaluation and classification of severity for 176 genes on an expanded carrier screening panel

Aishwarya Arjunan, Holly Bellerose, Raúl Torres et al. · Prenatal Diagnosis · 2020 · 37 citations · Full text

Genetics Professionals’ Opinions of Whole‐Genome Sequencing in the Newborn Period

Elizabeth Ulm, W Feero, Richard Dineen et al. · Journal of Genetic Counseling · 2014 · 34 citations · Full text

Genetic Testing, Neonatology, Neonatal Genomics +14

Interpreters’ perceptions of culture bumps in genetic counseling

Marc Rosenbaum, Richard Dineen, Karen Schmitz et al. · Journal of Genetic Counseling · 2020 · 20 citations

Ethnicity, Counseling, Family Medicine +21