E. Ferda Perçin
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Prenatal Screening and Diagnostics, Connective tissue disorders research, Congenital limb and hand anomalies, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → Human microphthalmia associated with mutations in the retinal homeobox gene CHX10(2000)287 cited
- → Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome(2000)270 cited
- → Blood-Derived Human iPS Cells Generate Optic Vesicle–Like Structures with the Capacity to Form Retinal Laminae and Develop Synapses(2012)205 cited
- → LRP4 Mutations Alter Wnt/β-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome(2010)164 cited
- → Modeling Human Retinal Development with Patient-Specific Induced Pluripotent Stem Cells Reveals Multiple Roles for Visual System Homeobox 2(2014)124 cited
- → Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism(2017)111 cited
- → An unexpected finding in a child with neurological problems: mosaic ring chromosome 18(2007)87 cited
- → RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome(2015)86 cited
- → Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis(2016)71 cited
- → Lrp4 Regulates Initiation of Ureteric Budding and Is Crucial for Kidney Formation – A Mouse Model for Cenani-Lenz Syndrome(2010)56 cited