Esther Meyer
Oregon Health & Science University(US)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genetic Syndromes and Imprinting, Epigenetics and DNA Methylation, Prenatal Screening and Diagnostics, Genomics and Rare Diseases
Most-Cited Works
- → Normalized metal artifact reduction (NMAR) in computed tomography(2010)591 cited
- → Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA(2012)358 cited
- → Germline Mutation in NLRP2 (NALP2) in a Familial Imprinting Disorder (Beckwith-Wiedemann Syndrome)(2009)322 cited
- → Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia(2016)314 cited
- → Frequency split metal artifact reduction (FSMAR) in computed tomography(2012)258 cited
- → Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis(2014)256 cited
- → Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation(2013)246 cited
- → Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia(2016)238 cited
- → Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia(2009)223 cited
- → Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis(2016)208 cited