Ana Beleza‐Meireles
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Congenital heart defects research, Genetics and Neurodevelopmental Disorders, RNA Research and Splicing, RNA modifications and cancer
Most-Cited Works
- → Variants of the elongator protein 3 ( ELP3 ) gene are associated with motor neuron degeneration(2008)290 cited
- → Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update(2014)178 cited
- → Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia(2012)129 cited
- → Osteocyte transcriptome mapping identifies a molecular landscape controlling skeletal homeostasis and susceptibility to skeletal disease(2021)117 cited
- → Genetic studies of amyotrophic lateral sclerosis: Controversies and perspectives(2009)110 cited
- → Oculo-auriculo-vertebral spectrum: Clinical and molecular analysis of 51 patients(2015)108 cited
- → 47 patients with FLNA associated periventricular nodular heterotopia(2015)105 cited
- → FGFR2, FGF8, FGF10 and BMP7 as candidate genes for hypospadias(2007)83 cited
- → Activating transcription factor 3: a hormone responsive gene in the etiology of hypospadias(2008)73 cited
- → Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta(2019)64 cited