P334: Ciliary analysis defines pathogenicity of novel WDR19 bi-allelic variants in patient with cranioectodermal dysplasia and mosaic chromosome 9p deletion by Daniah Albokhari, Meral Gunay-Aygun, Julie Hoover-Fong, May Christine Malicdan

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An Atypical Presentation of Pyridoxine-Dependent Epilepsy Diagnosed with Whole Exome Sequencing and Treated with Lysine Restriction and Supplementation with Arginine and Pyridoxine by Jiyoung Kim, Angela Pipitone Dempsey, Sun Young Kim, Meral Gunay-Aygun, Hilary J. Vernon

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High‐dose hydroxocobalamin achieves biochemical correction and improvement of neuropsychiatric deficits in adults with late onset cobalamin C deficiency by Tomoyasu Higashimoto, Alexander Y. Kim, Jessica T. Ogawa, Jennifer L. Sloan, Mohammed A. Almuqbil, Julia M. Carlson, Irini Manoli, Charles P. Venditti, Meral Gunay‐Aygun, Tao Wang

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Spleen and Liver Volumetrics as Surrogate Markers of Hepatic Venous Pressure Gradient in Patients With Noncirrhotic Portal Hypertension by Ohad Etzion, Varun Takyar, Victor Novack, Ahmed M. Gharib, Raissa Canales, Akeem Adebogun, Eric Matsumoto, Jason L. Eccleston, David E. Kleiner, Sergio D. Rosenzweig, Meral Gunay‐Aygun, Gulbu Uzel, Ivan Fuss, Richard Childs, Steven M. Holland, Elliot B. Levy, T. Jake Liang, Theo Heller, Christopher Koh

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cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome by Chulaluk Kuptanon, Marie Morimoto, Elena-Raluca Nicoli, Joshi Stephen, David S. Yarnell, Heidi Dorward, William Owen, Suhag Parikh, Namik Yasar Ozbek, Baris Malbora, Carla Ciccone, Meral Gunay-Aygun, William A. Gahl, William A. Gahl, Wendy J. Introne, Wendy J. Introne, May Christine V. Malicdan, May Christine V. Malicdan

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Consensus clinical management guidelines for Alström syndrome by Natascia Tahani, Pietro Maffei, Hélène Dollfus, Richard Paisey, Diana Valverde, Gabriella Milan, Joan C. Han, Francesca Favaretto, Shyam C. Madathil, Charlotte Dawson, Matthew J. Armstrong, Adrian T. Warfield, Selma Düzenli, Clair A. Francomano, Meral Gunay-Aygun, Francesca Dassie, Vincent Marion, Marina Valenti, Kerry Leeson-Beevers, Ann Chivers, Richard Steeds, Timothy Barrett, Tarekegn Geberhiwot

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Primary Cilium-Mediated Retinal Pigment Epithelium Maturation Is Disrupted in Ciliopathy Patient Cells by Helen Louise May-Simera, Qin Wan, Balendu Shekhar Jha, Juliet Hartford, Vladimir Khristov, Roba Dejene, Justin Chang, Sarita Patnaik, Quanlong Lu, Poulomi Banerjee, Jason Silver, Christine Insinna-Kettenhofen, Dishita Patel, Mostafa Lotfi, May Malicdan, Nathan Hotaling, Arvydas Maminishkis, Rupa Sridharan, Brian Brooks, Kiyoharu Miyagishima, Meral Gunay-Aygun, Rajarshi Pal, Christopher Westlake, Sheldon Miller, Ruchi Sharma, Kapil Bharti

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