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Meral Gunay‐Aygun | doi.page

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Meral Gunay‐Aygun

Johns Hopkins University(US)Johns Hopkins All Children's Hospital(US)

Publications by Year

Research Areas

Genetic and Kidney Cyst Diseases, Genetic Syndromes and Imprinting, Renal and related cancers, Fetal and Pediatric Neurological Disorders, Hedgehog Signaling Pathway Studies

Most-Cited Works

→ The Changing Purpose of Prader-Willi Syndrome Clinical Diagnostic Criteria and Proposed Revised Criteria(2001)486 cited
→ Disorders of Lysosome-Related Organelle Biogenesis: Clinical and Molecular Genetics(2008)425 cited
→ NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules(2011)258 cited
→ Liver and kidney disease in ciliopathies(2009)237 cited
→ Characteristics of Congenital Hepatic Fibrosis in a Large Cohort of Patients With Autosomal Recessive Polycystic Kidney Disease(2012)177 cited
→ Consensus Expert Recommendations for the Diagnosis and Management of Autosomal Recessive Polycystic Kidney Disease: Report of an International Conference(2014)176 cited

→ Primary Cilium-Mediated Retinal Pigment Epithelium Maturation Is Disrupted in Ciliopathy Patient Cells(2018)

158 cited

→ Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p(2010)153 cited

→ Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)(2009)151 cited

→ In Vitro Modeling Using Ciliopathy-Patient-Derived Cells Reveals Distinct Cilia Dysfunctions Caused by CEP290 Mutations(2017)147 cited