Rhonda E. Schnur
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, melanin and skin pigmentation, RNA regulation and disease, Genomic variations and chromosomal abnormalities
Most-Cited Works
- → Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants(2012)626 cited
- → Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly(2017)217 cited
- → High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation(2015)189 cited
- → High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44(2011)146 cited
- → The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity(2008)129 cited
- → CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language(2018)118 cited
- → Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome(2009)107 cited
- → The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes(2013)104 cited
- → Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder(2017)94 cited
- → De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions(2016)92 cited