Jillian R. Ozmore
Dartmouth–Hitchcock Medical Center(US)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Congenital heart defects research, Neurogenetic and Muscular Disorders Research
Most-Cited Works
- → A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay(2010)671 cited
- → Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP(2018)178 cited
- → Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome(2009)135 cited
- → The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes(2013)104 cited
- → Initial Transcribed Sequence Mutations Specifically Affect Promoter Escape Properties(2006)56 cited
- → Identification of two 14q32 deletions involving DICER1 associated with the development of DICER1-related tumors(2018)22 cited
- → SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance(2022)15 cited
- → Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants(2021)13 cited
- → ARID1B-related disorder in 87 adults: Natural history and self-sustainability(2024)6 cited
- → A Novel SPAST/SPG4 Splice-Site Variant in a Family with Dominant Hereditary Spastic Paraplegia(2020)1 cited