| The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria M Gunay-Aygun, S Schwartz, S Heeger, MA O'Riordan, SB Cassidy Pediatrics 108 (5), e92-e92, 2001 | 602 | 2001 |
| Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics M Huizing, A Helip-Wooley, W Westbroek, M Gunay-Aygun, WA Gahl Annu. Rev. Genomics Hum. Genet. 9, 359-386, 2008 | 434 | 2008 |
| NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules M Gunay-Aygun, TC Falik-Zaccai, T Vilboux, Y Zivony-Elboum, F Gumruk, ... Nature genetics 43 (8), 732-734, 2011 | 283 | 2011 |
| Liver and kidney disease in ciliopathies M Gunay‐Aygun American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2009 | 275 | 2009 |
| Characteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney disease M Gunay–Aygun, E Font–Montgomery, L Lukose, MT Gerstein, ... Gastroenterology 144 (1), 112-121. e2, 2013 | 176 | 2013 |
| Consensus expert recommendations for the diagnosis and management of autosomal recessive polycystic kidney disease: report of an international conference LM Guay-Woodford, JJ Bissler, MC Braun, D Bockenhauer, ... The Journal of pediatrics 165 (3), 611-617, 2014 | 174 | 2014 |
| Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis) D Doherty, MA Parisi, LS Finn, M Gunay-Aygun, M Al-Mateen, D Bates, ... Journal of medical genetics 47 (1), 8-21, 2010 | 173 | 2010 |
| Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p M Gunay-Aygun, Y Zivony-Elboum, F Gumruk, D Geiger, M Cetin, ... Blood, The Journal of the American Society of Hematology 116 (23), 4990-5001, 2010 | 168 | 2010 |
| Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF) B Turkbey, I Ocak, K Daryanani, E Font-Montgomery, L Lukose, J Bryant, ... Pediatric radiology 39, 100-111, 2009 | 164 | 2009 |
| Molecular defects that affect platelet dense granules M Gunay-Aygun, M Huizing, WA Gahl Seminars in thrombosis and hemostasis 30 (05), 537-547, 2004 | 150 | 2004 |
| Spectrum of clinical diseases caused by disorders of primary cilia SM Ware, MG Aygun, F Hildebrandt Proceedings of the American Thoracic Society 8 (5), 444-450, 2011 | 143 | 2011 |
| Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease M Gunay-Aygun, E Font-Montgomery, L Lukose, M Tuchman, J Graf, ... Clinical Journal of the American Society of Nephrology 5 (6), 972-984, 2010 | 131 | 2010 |
| Primary cilium-mediated retinal pigment epithelium maturation is disrupted in ciliopathy patient cells HL May-Simera, Q Wan, BS Jha, J Hartford, V Khristov, R Dejene, ... Cell reports 22 (1), 189-205, 2018 | 127 | 2018 |
| DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling M Schueler, DA Braun, G Chandrasekar, HY Gee, TD Klasson, J Halbritter, ... The American Journal of Human Genetics 96 (1), 81-92, 2015 | 127 | 2015 |
| In vitro modeling using ciliopathy-patient-derived cells reveals distinct cilia dysfunctions caused by CEP290 mutations H Shimada, Q Lu, C Insinna-Kettenhofen, K Nagashima, MA English, ... Cell reports 20 (2), 384-396, 2017 | 125 | 2017 |
| York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1 T Markello, D Chen, JY Kwan, I Horkayne-Szakaly, A Morrison, ... Molecular genetics and metabolism 114 (3), 474-482, 2015 | 124 | 2015 |
| Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center T Vilboux, DA Doherty, IA Glass, MA Parisi, IG Phelps, AR Cullinane, ... Genetics in Medicine 19 (8), 875-882, 2017 | 121 | 2017 |
| PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis M Gunay-Aygun, M Tuchman, E Font-Montgomery, L Lukose, H Edwards, ... Molecular genetics and metabolism 99 (2), 160-173, 2010 | 118 | 2010 |
| Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis: summary statement of a first National Institutes of Health/Office of Rare Diseases conference M Gunay-Aygun, ED Avner, RL Bacallao, PL Choyke, JT Flynn, ... The Journal of pediatrics 149 (2), 159-164, 2006 | 117 | 2006 |
| The α‐granule proteome: novel proteins in normal and ghost granules in gray platelet syndrome DM Maynard, HFG Heijnen, WA Gahl, M GUNAY‐AYGUN Journal of thrombosis and haemostasis 8 (8), 1786-1796, 2010 | 107 | 2010 |
Meghana VemulapalliBioinformatics ScientistBestätigte E-Mail-Adresse bei nih.gov
