Metabolomics in Clinical Practice: Improving Diagnosis and Informing Management von Odom, John D, Sutton, V Reid

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Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation von Posey, Jennifer E, Harel, Tamar, Liu, Pengfei, Rosenfeld, Jill A, James, Regis A, Coban Akdemir, Zeynep H, Walkiewicz, Magdalena, Bi, Weimin, Xiao, Rui, Ding, Yan, Xia, Fan, Beaudet, Arthur L, Muzny, Donna M, Gibbs, Richard A, Boerwinkle, Eric, Eng, Christine M, Sutton, V. Reid, Shaw, Chad A, Plon, Sharon E, Yang, Yaping, Lupski, James R

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Asprosin, a Fasting-Induced Glucogenic Protein Hormone von Romere, Chase, Duerrschmid, Clemens, Bournat, Juan, Constable, Petra, Jain, Mahim, Xia, Fan, Saha, Pradip K., Del Solar, Maria, Zhu, Bokai, York, Brian, Sarkar, Poonam, Rendon, David A., Gaber, M. Waleed, LeMaire, Scott A., Coselli, Joseph S., Milewicz, Dianna M., Sutton, V. Reid, Butte, Nancy F., Moore, David D., Chopra, Atul R.

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Asprosin is a centrally acting orexigenic hormone von Duerrschmid, Clemens, He, Yanlin, Wang, Chunmei, Li, Chia, Bournat, Juan C, Romere, Chase, Saha, Pradip K, Lee, Mark E, Phillips, Kevin J, Jain, Mahim, Jia, Peilin, Zhao, Zhongming, Farias, Monica, Wu, Qi, Milewicz, Dianna M, Sutton, V Reid, Moore, David D, Butte, Nancy F, Krashes, Michael J, Xu, Yong, Chopra, Atul R

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Untargeted metabolomic profiling reveals multiple pathway perturbations and new clinical biomarkers in urea cycle disorders von Burrage, Lindsay C., Thistlethwaite, Lillian, Stroup, Bridget M., Sun, Qin, Miller, Marcus J., Nagamani, Sandesh C.S., Craigen, William, Scaglia, Fernando, Sutton, V. Reid, Graham, Brett, Kennedy, Adam D., Milosavljevic, Aleksandar, Lee, Brendan H., Elsea, Sarah H.

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A noncoding RNA modulator potentiates phenylalanine metabolism in mice von Li, Yajuan, Tan, Zhi, Zhang, Yaohua, Zhang, Zhao, Hu, Qingsong, Liang, Ke, Jun, Yao, Ye, Youqiong, Li, Yi-Chuan, Li, Chunlai, Liao, Lan, Xu, Jianming, Xing, Zhen, Pan, Yinghong, Chatterjee, Sujash S., Nguyen, Tina K., Hsiao, Heidi, Egranov, Sergey D., Putluri, Nagireddy, Coarfa, Cristian, Hawke, David H., Gunaratne, Preethi H., Tsai, Kuang-Lei, Han, Leng, Hung, Mien-Chie, Calin, George A., Namour, Fares, Gueant, Jean-Louis, Muntau, Ania C., Blau, Nenad, Sutton, V. Reid, Schiff, Manuel, Feillet, Francois, Zhang, Shuxing, Lin, Chunru, Yang, Liuqing

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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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Mutations in X-linked PORCN , a putative regulator of Wnt signaling, cause focal dermal hypoplasia von Van den Veyver, Ignatia B, Wang, Xiaoling, Reid Sutton, V, Omar Peraza-Llanes, J, Yu, Zhiyin, Rosetta, Rebecca, Kou, Ying-Chuck, Eble, Tanya N, Patel, Ankita, Thaller, Christina, Fang, Ping

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A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers von Wangler, Michael F, Hubert, Leroy, Donti, Taraka R, Ventura, Meredith J, Miller, Marcus J, Braverman, Nancy, Gawron, Kelly, Bose, Mousumi, Moser, Ann B, Jones, Richard O, Rizzo, William B, Sutton, V Reid, Sun, Qin, Kennedy, Adam D, Elsea, Sarah H

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Elucidation of the complex metabolic profile of cerebrospinal fluid using an untargeted biochemical profiling assay von Kennedy, Adam D., Pappan, Kirk L., Donti, Taraka R., Evans, Anne M., Wulff, Jacob E., Miller, Luke A.D., Reid Sutton, V., Sun, Qin, Miller, Marcus J., Elsea, Sarah H.

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Obstetrical Challenges in Robinow Syndrome von Zhang, Yingao, Casanova, Marco, Shanahan, Matthew, Sutton, V. Reid, Fox, Karin

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Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy von del Caño-Ochoa, Francisco, Ng, Bobby G., Abedalthagafi, Malak, Almannai, Mohammed, Cohn, Ronald D., Costain, Gregory, Elpeleg, Orly, Houlden, Henry, Karimiani, Ehsan Ghayoor, Liu, Pengfei, Manzini, M. Chiara, Maroofian, Reza, Muriello, Michael, Al-Otaibi, Ali, Patel, Hema, Shimon, Edvardson, Sutton, V. Reid, Toosi, Mehran Beiraghi, Wolfe, Lynne A., Rosenfeld, Jill A., Freeze, Hudson H., Ramón-Maiques, Santiago

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Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma von Burrage, Lindsay C., MD, PhD, Miller, Marcus J., PhD, Wong, Lee-Jun, PhD, Kennedy, Adam D., PhD, Sutton, V. Reid, MD, Sun, Qin, PhD, Elsea, Sarah H., PhD, Graham, Brett H., MD, PhD

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Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency von Pillai, Nishitha R., Amin, Hitha, Gijavanekar, Charul, Liu, Ning, Issaq, Niveen, Broniowska, Katarzyna A., Bertuch, Alison A., Sutton, V. Reid, Elsea, Sarah H., Scaglia, Fernando

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Assessing disease experience across the life span for individuals with osteogenesis imperfecta: challenges and opportunities for patient-reported outcomes (PROs) measurement: a pil... von Tosi, Laura L, Floor, Marianne K, Dollar, Christina M, Gillies, Austin P, Hart, Tracy S, Cuthbertson, David D, Sutton, V Reid, Krischer, Jeffrey P

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Characterization of the Robinow syndrome skeletal phenotype, bone micro‐architecture, and genotype–phenotype correlations with the osteosclerotic form von Shayota, Brian J., Zhang, Chaofan, Shypailo, Roman J., Mazzeu, Juliana F., Carvalho, Claudia M. B., Sutton, V. Reid

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Health‐related quality of life in adults with osteogenesis imperfecta von Murali, Chaya N., Slater, Brady, Musaad, Salma, Cuthbertson, David, Nguyen, Dianne, Turner, Alicia, Azamian, Mahshid, Tosi, Laura, Rauch, Frank, Sutton, V. Reid, Lee, Brendan, Nagamani, Sandesh C. S.

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Neurocognitive, adaptive, and psychosocial functioning in individuals with Robinow syndrome von Schwartz, David D., Fein, Rachel H., Carvalho, Claudia M. B., Sutton, V. Reid, Mazzeu, Juliana F., Axelrad, Marni E.

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PhenoDB: A New Web-Based Tool for the Collection, Storage, and Analysis of Phenotypic Features von Hamosh, Ada, Sobreira, Nara, Hoover-Fong, Julie, Sutton, V. Reid, Boehm, Corinne, Schiettecatte, François, Valle, David

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VPS26C homozygous nonsense variant in two cousins with neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial features von Beetz, Christian, Ameziane, Najim, Kdissa, Ameni, Karageorgou, Vasiliki, Bauer, Peter, Suleiman, Jehan, Sutton, V. Reid, El‐Hattab, Ayman W.

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