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Meral Gunay‐Aygun | Researchclopedia

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Meral Gunay‐Aygun

Johns Hopkins University ORCID

107

Works

5,495

Citations

39

h-index

70

i10-index

Research Topics

Genetic and Kidney Cyst Diseases Genetic Syndromes and Imprinting Renal and related cancers

Affiliations

National Institutes of Health1993–2023

Johns Hopkins University1993–2024

University Hospitals of Cleveland1997–1997

Johns Hopkins Medicine2012–2022

National Human Genome Research Institute1993–2023

Top Works

The Changing Purpose of Prader-Willi Syndrome Clinical Diagnostic Criteria and Proposed Revised Criteria

Meral Gunay‐Aygun,Stuart Schwartz,et al.

2001486 citations

Fetal and Pediatric Neurological Disorders

Hedgehog Signaling Pathway Studies

Disorders of Lysosome-Related Organelle Biogenesis: Clinical and Molecular Genetics

Marjan Huizing,Amanda Helip‐Wooley,et al.

2008425 citations

NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules

Meral Gunay‐Aygun,Tzipora C. Falik‐Zaccai,et al.

2011258 citations

Liver and kidney disease in ciliopathies

Meral Gunay‐Aygun

2009238 citations

Characteristics of Congenital Hepatic Fibrosis in a Large Cohort of Patients With Autosomal Recessive Polycystic Kidney Disease

Meral Gunay‐Aygun,Esperanza Font–Montgomery,et al.

2012178 citations

Consensus Expert Recommendations for the Diagnosis and Management of Autosomal Recessive Polycystic Kidney Disease: Report of an International Conference

Lisa M. Guay‐Woodford,John J. Bissler,et al.

2014176 citations

Primary Cilium-Mediated Retinal Pigment Epithelium Maturation Is Disrupted in Ciliopathy Patient Cells

Helen May‐Simera,Qin Wan,et al.

2018158 citations

Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p

Meral Gunay‐Aygun,Yifat Zivony-Elboum,et al.

2010153 citations

Mutations in 3 genes (<i>MKS3</i>, <i>CC2D2A</i> and <i>RPGRIP1L</i>) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

D Doherty,Melissa A. Parisi,et al.

2009151 citations