Melissa Rumple
Dermatology Specialists(US)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, RNA modifications and cancer, Congenital heart defects research, MicroRNA in disease regulation, Epilepsy research and treatment
Most-Cited Works
- → The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis(2019)97 cited
- → The spectrum of intermediate SCN8A‐related epilepsy(2019)92 cited
- → Short stature, digit anomalies and dysmorphic facial features are associated with the duplication of miR-17 ~ 92 cluster(2014)29 cited
- → Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis(2019)10 cited
- → CMA analysis identifies homozygous deletion of MCPH1 in 2 brothers with primary Microcephaly-1(2017)3 cited
- → Compound heterozygosity of two MECP2 deletions with paternal inheritance of a late-truncating mutation in a female with atypical Rett syndrome (P4.253)(2015)