MeralGunay-AygunMD

PubMed

• 1 citations
  cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome.
  Chulaluk Kuptanon, Marie Morimoto, Elena-Raluca Nicoli, Joshi Stephen, David S Yarnell, Heidi Dorward, William Owen, Suhag Parikh, Namik Yasar Ozbek, Baris Malbora, Ca...> ;Frontiers in Genetics. 2023 Jan 1
• 1 citations
  Systematic analysis of physical examination characteristics of 94 individuals with Joubert syndrome: Keys to suspecting the diagnosis.
  RaeLynn Forsyth, Melissa A Parisi, Burak Altintas, May Christine Malicdan, Thierry Vilboux, Jasmine Knoll, Brian P Brooks, Wadih M Zein, William A Gahl, Camilo Toro, M...> ;American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 2022 Mar 1
• 1 citations
  Growth in Joubert syndrome: Growth curves and physical measurements with correlation to genotype and hepatorenal disease in 170 individuals.
  Jasmine Knoll, Burak Altintas, William A Gahl, Melissa Parisi, Meral Gunay-Aygun> ;American Journal of Medical Genetics. Part A. 2022 Mar 1
• An Atypical Presentation of Pyridoxine-Dependent Epilepsy Diagnosed with Whole Exome Sequencing and Treated with Lysine Restriction and Supplementation with Arginine a...
  Jiyoung Kim, Angela Pipitone Dempsey, Sun Young Kim, Meral Gunay-Aygun, Hilary J Vernon> ;Case Reports in Genetics. 2022 Jan 1
• 5 citations
  Surgical Debulking for Refractory Hyperammonemic Encephalopathy in Fibrolamellar Hepatocellular Carcinoma
  Vinod Kumar Reddy Solipuram, Marina Baretti, Alexander Y. Kim, Lucy X. Chen, Jill A. Fahrner, Meral Gunay-Aygun, Xiao P. Peng, Dylan Hardenbergh, Anna Ferguson, Paige ...> ;Hepatology. 2021 Aug 21
• 5 citations
  Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities.
  Fuad Chowdhury, Lei Wang, Mohammed Al-raqad, David J. Amor, A. Baxova, Sarka Bendova, Elisa Biamino, Alfredo Brusco, Oana Caluseriu, Nancy J. Cox, Tawfiq Froukh, Meral...> ;Genetics in Medicine. 2021 Apr 6
• 36 citations
  Consensus clinical management guidelines for Alström syndrome.
  Natascia Tahani, Pietro Maffei, Hélène Dollfus, Richard B Paisey, Diana Valverde, Gabriella Milan, Joan C. Han, Francesca Favaretto, Shyam Madathil, Charlotte Dawson, ...> ;Orphanet Journal of Rare Diseases. 2020 Sep 21
• 10 citations
  Prospective evaluation of kidney and liver disease in autosomal recessive polycystic kidney disease-congenital hepatic fibrosis.
  Nehna Abdul Majeed, Esperanza Font-Montgomery, Linda Lukose, Joy Bryant, Peter Veppumthara, Peter L. Choyke, Ismail B. Turkbey, Theo Heller, William A. Gahl, Meral Gun...> ;Molecular Genetics and Metabolism. 2020 Sep 1
• 8 citations
  Pitfalls in the Diagnosis of Hereditary Fructose Intolerance
  Alexander Y. Kim, Joel J. Hughes, Angela Pipitone Dempsey, Krista Sondergaard Schatz, Tao Wang, Meral Gunay-Aygun> ;Pediatrics. 2020 Jul 1
• 28 citations
  Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
  Holger Hengel, Célia Bosso-Lefèvre, George Grady, Emmanuelle Szenker-Ravi, Hankun Li, Sarah B. Pierce, Élise Lebigot, Thong Teck Tan, Michelle Eio, Gunaseelan Narayana...> ;Nature Communications. 2020 Jan 30
• 17 citations
  Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome
  Simon A. Ramsbottom, Peter E. Thelwall, Katrina M Wood, Gavin J. Clowry, Laura A. Devlin, Flora Silbermann, Helena L. Spiewak, Shirlee Shril, Elisa Molinari, Friedhelm...> ;Proceedings of the National Academy of Sciences of the United States of America. 2020 Jan 14
• 2 citations
  Fruits of Genomic Match-Making: De Novo Variants in PRR12 are Associated with a Wide Spectrum of Eye and Neurodevelopmental Anomolies
  Tugce B. Balci, Lei Wang, Seema R. Lalani, Solveig Heide, Boris Keren, Cyril Mignot, G Morley, Jagdeep S. Walia, Patricia G. Wheeler, Jennifer M. Lemons, David Rodrigu...> ;American Journal of Medical Genetics. Part A. 2020 Jan 1
• 47 citations
  Healthcare recommendations for Joubert syndrome
  Ruxandra Bachmann-Gagescu, Jennifer C. Dempsey, Sara Bulgheroni, Maida L. Chen, Stefano D'Arrigo, Ian A. Glass, Theo Heller, Elise Héon, Friedhelm Hildebrandt, Nirmal ...> ;American Journal of Medical Genetics. Part A. 2020 Jan 1
• 12 citations
  High-dose hydroxocobalamin achieves biochemical correction and improvement of neuropsychiatric deficits in adults with late onset cobalamin C deficiency.
  Tomoyasu Higashimoto, Alexander Y. Kim, Jessica T Ogawa, Jennifer L. Sloan, Mohammed A. Almuqbil, Julia M. Carlson, Irini Manoli, Charles P. Venditti, Meral Gunay-Aygu...> ;JIMD Reports. 2020 Jan 1
• 13 citations
  Targeted exon skipping rescues ciliary protein composition defects in Joubert syndrome patient fibroblasts.
  Elisa Molinari, Simon A. Ramsbottom, Shalabh Srivastava, Philip Booth, Sumaya Alkanderi, Seamus M. McLafferty, Laura A. Devlin, Kathryn White, Meral Gunay-Aygun, Colin...> ;Scientific Reports. 2019 Jul 25
• 16 citations
  Clinical characteristics of individual organ system disease in non-motile ciliopathies.
  Angela Grochowsky, Meral Gunay-Aygun> ;Translational Science of Rare Diseases. 2019 Jul 4
• 27 citations
  Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features.
  , , , , , , , , , , , , , , , , , , , , , , , , , , , , , > ;American Journal of Medical Genetics. Part A. 2019 Jul 1
• 13 citations
  Xia-Gibbs syndrome in adulthood: a case report with insight into the natural history of the condition.
  David R. Murdock, Yunyun Jiang, Michael F. Wangler, Michael M. Khayat, Aniko Sabo, Jane Juusola, Kirsty McWalter, Krista Sondergaard Schatz, Meral Gunay-Aygun, Richard...> ;Cold Spring Harbor Molecular Case Studies. 2019 Jun 3
• 7 citations
  Growth hormone deficiency, aortic dilation, and neurocognitive issues in Feingold syndrome 2
  Michael Muriello, Alexander Y. Kim, Krista Sondergaard Schatz, Natalie Beck, Meral Gunay-Aygun, Julie Hoover-Fong> ;American Journal of Medical Genetics. Part A. 2019 Mar 1
• 11 citations
  Alström syndrome: Renal findings in correlation with obesity, insulin resistance, dyslipidemia and cardiomyopathy in 38 patients prospectively evaluated at the NIH cli...
  Meryl Waldman, Joan C. Han, Daniela P Reyes-Capo, Joy Bryant, Kathryn A. Carson, Baris Turkbey, Peter L. Choyke, Juergen K Naggert, William A. Gahl, Jan D. Marshall, M...> ;Molecular Genetics and Metabolism. 2018 Sep 1
• 35 citations
  Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center
  Brian P. Brooks, Wadih M. Zein, Amy H. Thompson, Maryam Mokhtarzadeh, Dan Doherty, Melissa A. Parisi, Ian A. Glass, May Christine V. Malicdan, Thierry Vilboux, Meghana...> ;Ophthalmology. 2018 Jul 25
• 9 citations
  Spleen and Liver Volumetrics as Surrogate Markers of Hepatic Venous Pressure Gradient in Patients With Noncirrhotic Portal Hypertension
  Ohad Etzion, Varun Takyar, Victor Novack, Ahmed M. Gharib, Raissa Canales, Akeem Adebogun, Eric Matsumoto, Jason L. Eccleston, David E. Kleiner, Sergio D. Rosenzweig, ...> ;Hepatology Communications. 2018 Jul 16
• 34 citations
  Comprehensive Endocrine-Metabolic Evaluation of Patients With Alström Syndrome Compared With BMI-Matched Controls.
  Joan C. Han, Daniela P Reyes-Capo, Chia-Ying Liu, James C. Reynolds, Evrim B. Turkbey, Ismail B. Turkbey, Joy Bryant, Jan D. Marshall, Juergen K Naggert, William A. Ga...> ;The Journal of Clinical Endocrinology and Metabolism. 2018 Jul 1
• 92 citations
  Primary Cilium-Mediated Retinal Pigment Epithelium Maturation Is Disrupted in Ciliopathy Patient Cells
  Helen May-Simera, Qin Wan, Balendu Shekhar Jha, Juliet Hartford, Vladimir Khristov, Roba Dejene, Justin Chang, Sarita Rani Patnaik, Quanlong Lu, Poulomi Banerjee, Jaso...> ;Cell Reports. 2018 Jan 2
• 44 citations
  Prospective Evaluation of Kidney Disease in Joubert Syndrome
  Leah R. Fleming, Dan Doherty, Melissa A. Parisi, Ian A. Glass, Joy Bryant, Roxanne Fischer, Baris Turkbey, Peter L. Choyke, Kailash Daryanani, Meghana Vemulapalli, Jam...> ;Clinical Journal of the American Society of Nephrology. 2017 Dec 7
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