Untargeted Metabolomics for Autism Spectrum Disorders: Current Status and Future Directions von Glinton, Kevin E., Elsea, Sarah H.

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An innovative medical school curriculum to enhance exposure to genetics and genomics: Updates and outcomes von Glinton, Kevin E., Potocki, Lorraine, Dhar, Shweta U.

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Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis von Alaimo, Joseph T., Glinton, Kevin E., Liu, Ning, Xiao, Jing, Yang, Yaping, Reid Sutton, V., Elsea, Sarah H.

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Monitoring the treatment of urea cycle disorders using phenylbutyrate metabolite analyses: Still many lessons to learn von Glinton, Kevin E., Minard, Charles G., Liu, Ning, Sun, Qin, Elsea, Sarah H., Burrage, Lindsay C., Nagamani, Sandesh C.S.

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Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of Metabolism von Liu, Ning, Xiao, Jing, Gijavanekar, Charul, Pappan, Kirk L., Glinton, Kevin E., Shayota, Brian J., Kennedy, Adam D., Sun, Qin, Sutton, V. Reid, Elsea, Sarah H.

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Succinic semialdehyde dehydrogenase deficiency: a metabolic and genomic approach to diagnosis von Glinton, Kevin E, Gijavanekar, Charul, Rajagopal, Abbhirami, Mackay, Laura P, Martin, Kirt A, Pearl, Phillip L, Gibson, K Michael, Wilson, Theresa A, Sutton, V Reid, Elsea, Sarah H

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A Somnolent Neonate With Hypothermia and Posturing von Nguyen, Jessica M., Kaushal, Sonia, Glinton, Kevin E., Marom, Ronit

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Epilepsy as a Novel Phenotype of BPTF-Related Disorders von Ferretti, Alessandro, Furlan, Margherita, Glinton, Kevin E., Fenger, Christina D., Boschann, Felix, Amlie-Wolf, Louise, Zeidler, Shimriet, Moretti, Raffaella, Stoltenburg, Corinna, Tarquinio, Daniel C., Furia, Francesca, Parisi, Pasquale, Rubboli, Guido, Devinsky, Orrin, Mignot, Cyril, Gripp, Karen W., Møller, Rikke S., Yang, Yaping, Stankiewicz, Pawel, Gardella, Elena

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De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features von Pan, Xueyang, Tao, Alice M., Lu, Shenzhao, Ma, Mengqi, Hannan, Shabab B., Slaugh, Rachel, Drewes Williams, Sarah, O'Grady, Lauren, Kanca, Oguz, Person, Richard, Carter, Melissa T., Platzer, Konrad, Schnabel, Franziska, Abou Jamra, Rami, Roberts, Amy E., Newburger, Jane W., Revah-Politi, Anya, Granadillo, Jorge L., Stegmann, Alexander P.A., Sinnema, Margje, Accogli, Andrea, Salpietro, Vincenzo, Capra, Valeria, Ghaloul-Gonzalez, Lina, Brueckner, Martina, Simon, Marleen E.H., Sweetser, David A., Glinton, Kevin E., Kirk, Susan E., Burrage, Lindsay C., Heaney, Jason D., Kim, Seon-Young, Lanza, Denise G., Liu, Zhandong, Mao, Dongxue, Milosavljevic, Aleksander, Nagamani, Sandesh C.S., Posey, Jennifer E., Ramamurthy, Uma, Ramanathan, Vivek, Rogers, Jeffrey, Rosenfeld, Jill A., Roth, Matthew, Zahedi Darshoori, Ramin, Wangler, Michael F., Yamamoto, Shinya, Chung, Wendy K., Bellen, Hugo J.

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Cardiac crises: Cardiac arrhythmias and cardiomyopathy during TANGO2 deficiency related metabolic crises von Miyake, Christina Y., Lay, Erica J., Beach, Cheyenne M., Ceresnak, Scott R., Delauz, Caridad M., Howard, Taylor S., Janson, Christopher M., Jardine, Kate, Kannankeril, Prince J., Kava, Maina, Kim, Jeffrey J., Liberman, Leonardo, Macicek, Scott L., Pham, Tam Dam, Robertson, Terry, Valdes, Santiago O., Webster, Gregory, Stephens, Sara B., Milewicz, Diana M., Azamian, Mahshid, Ehsan, Saad A., Houck, Kimberly M., Soler-Alfonso, Claudia, Glinton, Kevin E., Tosur, Mustafa, Li, Na, Xu, Weiyi, Lalani, Seema R., Zhang, Lilei

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Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients von Miyake, Christina Y., Lay, Erica J., Soler-Alfonso, Claudia, Glinton, Kevin E., Houck, Kimberly M., Tosur, Mustafa, Moran, Nancy E., Stephens, Sara B., Scaglia, Fernando, Howard, Taylor S., Kim, Jeffrey J., Pham, Tam Dam, Valdes, Santiago O., Li, Na, Murali, Chaya N., Zhang, Lilei, Kava, Maina, Yim, Deane, Beach, Cheyenne, Webster, Gregory, Liberman, Leonardo, Janson, Christopher M., Kannankeril, Prince J., Baxter, Samantha, Singer-Berk, Moriel, Wood, Jordan, Mackenzie, Samuel J., Sacher, Michael, Ghaloul-Gonzalez, Lina, Pedroza, Claudia, Morris, Shaine A., Ehsan, Saad A., Azamian, Mahshid S., Lalani, Seema R.

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Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling von Glinton, Kevin E., Benke, Paul J., Lines, Matthew A., Geraghty, Michael T., Chakraborty, Pranesh, Al-Dirbashi, Osama Y., Jiang, Yi, Kennedy, Adam D., Grotewiel, Michael S., Sutton, V. Reid, Elsea, Sarah H., El-Hattab, Ayman W.

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KCNA1 gain‐of‐function epileptic encephalopathy treated with 4‐aminopyridine von Müller, Peter, Takacs, Danielle S., Hedrich, Ulrike B. S., Coorg, Rohini, Masters, Laura, Glinton, Kevin E., Dai, Hongzheng, Cokley, Jon A., Riviello, James J., Lerche, Holger, Cooper, Edward C.

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Untargeted Metabolomics of Slc13a5 Deficiency Reveal Critical Liver-Brain Axis for Lipid Homeostasis von Milosavljevic, Sofia, Glinton, Kevin E, Li, Xiqi, Medeiros, Cláudia, Gillespie, Patrick, Seavitt, John R, Graham, Brett H, Elsea, Sarah H

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Multiple mitochondrial dysfunctions syndrome 1: An unusual cause of developmental pulmonary hypertension von Birjiniuk, Alona, Glinton, Kevin E., Villafranco, Natalie, Boyer, Suzanne, Laufman, Jason, Mizerik, Elizabeth, Scott, Daryl, Elsea, Sarah H., Galambos, Csaba, Varghese, Nidhy P., Scaglia, Fernando

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Improving access to exome sequencing in a medically underserved population through the Texome Project von Vuocolo, Blake, German, Ryan J., Lalani, Seema R., Murali, Chaya N., Bacino, Carlos A., Baskin, Stephanie, Littlejohn, Rebecca, Odom, John D., McLean, Scott, Schmid, Carrie, Nutter, Morgan, Stuebben, Melissa, Magness, Emily, Juarez, Olivia, El Achi, Dina, Mitchell, Bailey, Glinton, Kevin E., Robak, Laurie, Nagamani, Sandesh C.S., Saba, Lisa, Ritenour, Adasia, Zhang, Lilei, Streff, Haley, Chan, Katie, Kemere, K. Jordan, Carter, Kent, Mao, Dongxue, Kim, Seon Young, Pasupuleti, Sasidhar, Liu, Zhandong, Yamamoto, Shinya, Owen, Nichole, Vossaert, Liesbeth, Liu, Pengfei, Bellen, Hugo, Wangler, Michael F.

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Poly(N-vinylpyrrolidone)–H2O2 and poly(4-vinylpyridine)–H2O2 complexes: solid H2O2 equivalents for selective oxidation of sulfides to sulfoxides and ketones to gem-dihydroperoxides... von Surya Prakash, G. K., Shakhmin, Anton, Glinton, Kevin E., Rao, Sneha, Mathew, Thomas, Olah, George A.

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P015: Screening for disorders of GABA metabolism: Integration of sequencing and metabolomic screening supports early diagnosis and expands access to care von Glinton, Kevin, Gijavanekar, Charul, Martin, Kirt, Wilson, Theresa, Sutton, Vernon, Elsea, Sarah

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An 8-Year-Old Male With Fever of Unknown Origin von Glinton, Kevin E., Sharp, Eleanor A., Mendelsohn, Mark J.

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P381: Rare mechanisms causing UPD(14)pat and UPD(14)mat von Waskow, Emily, Mizerik, Elizabeth, Owen, Nichole, Kin Chau, Matthew Hoi, Franciskovich, Rachel, Glinton, Kevin, Machol, Keren

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