Akdemir, Zeynep Coban

Top Publications

Top Publications Authored or Co-Authored by "Akdemir, Zeynep Coban"

• Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies

  Genetics in Medicine, Volume 23, No. 9, Year 2021, Citations 66
• Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism

  American Journal of Human Genetics, Volume 100, No. 1, Year 2017, Citations 58
• GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability

  American Journal of Human Genetics, Volume 99, No. 3, Year 2016, Citations 53
• Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy

  Annals of Clinical and Translational Neurology, Volume 7, No. 5, Year 2020, Citations 24