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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Nosology of genetic skeletal disorders: 2023 revision von Unger, Sheila, Ferreira, Carlos R., Mortier, Geert R., Ali, Houda, Bertola, Débora R., Calder, Alistair, Cohn, Daniel H., Cormier‐Daire, Valerie, Girisha, Katta M., Hall, Christine, Krakow, Deborah, Makitie, Outi, Mundlos, Stefan, Nishimura, Gen, Robertson, Stephen P., Savarirayan, Ravi, Sillence, David, Simon, Marleen, Sutton, V. Reid, Warman, Matthew L., Superti‐Furga, Andrea

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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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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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Newborn screening: a review of history, recent advancements, and future perspectives in the era of next generation sequencing von Almannai, Mohammed, Marom, Ronit, Sutton, V Reid

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Approach to the Patient: Pharmacological Therapies for Fracture Risk Reduction in Adults With Osteogenesis Imperfecta von Liu, Winnie, Lee, Brendan, Nagamani, Sandesh C S, Nicol, Lindsey, Rauch, Frank, Rush, Eric T, Sutton, V Reid, Orwoll, Eric

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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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Insights into genetics, human biology and disease gleaned from family based genomic studies von Posey, Jennifer E., O’Donnell-Luria, Anne H., Chong, Jessica X., Harel, Tamar, Jhangiani, Shalini N., Coban Akdemir, Zeynep H., Buyske, Steven, Pehlivan, Davut, Carvalho, Claudia M. B., Baxter, Samantha, Sobreira, Nara, Liu, Pengfei, Wu, Nan, Rosenfeld, Jill A., Kumar, Sushant, Avramopoulos, Dimitri, White, Janson J., Doheny, Kimberly F., Witmer, P. Dane, Boehm, Corinne, Sutton, V. Reid, Muzny, Donna M., Boerwinkle, Eric, Günel, Murat, Nickerson, Deborah A., Mane, Shrikant, MacArthur, Daniel G., Gibbs, Richard A., Hamosh, Ada, Lifton, Richard P., Matise, Tara C., Rehm, Heidi L., Gerstein, Mark, Bamshad, Michael J., Valle, David, Lupski, James R.

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A multicenter study to evaluate pulmonary function in osteogenesis imperfecta von Tam, Allison, Chen, Shan, Schauer, Evan, Grafe, Ingo, Bandi, Venkata, Shapiro, Jay R., Steiner, Robert D., Smith, Peter A., Bober, Michael B., Hart, Tracy, Cuthbertson, David, Krischer, Jeffrey, Mullins, Mary, Byers, Peter H., Sandhaus, Robert A., Durigova, Michaela, Glorieux, Francis H., Rauch, Frank, Reid Sutton, Vernon, Lee, Brendan, Rush, Eric T., Nagamani, Sandesh C.S.

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Phenotypic expansion of POGZ‐related intellectual disability syndrome (White‐Sutton syndrome) von Assia Batzir, Nurit, Posey, Jennifer E., Song, Xiaofei, Akdemir, Zeynep Coban, Rosenfeld, Jill A., Brown, Chester W., Chen, Emily, Holtrop, Shannon G., Mizerik, Elizabeth, Nieto Moreno, Margarita, Payne, Katelyn, Raas‐Rothschild, Annick, Scott, Richard, Vernon, Hilary J., Zadeh, Neda, Lupski, James R., Sutton, V. Reid

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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 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, Guéant, Jean-Louis, Muntau, Ania C, Blau, Nenad, Sutton, V Reid, Schiff, Manuel, Feillet, François, Zhang, Shuxing, Lin, Chunru, Yang, Liuqing

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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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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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A qualitative exploration of patient perspectives on psychosocial burdens and positive factors in adults with osteogenesis imperfecta von Rork, W. Conor, Hertz, Alyssa G., Wiese, Andrew D., Kostick, Kristin M., Nguyen, Dianne, Schneider, Sophie C., Shepherd, Whitney S., Cho, Hannah, Lee, Brendan, Sutton, V. Reid, Nagamani, Sandesh CS, Rauch, Frank, Glorieux, Francis, Retrouvey, Jean‐Marc, Lee, Janice, Esposito, Paul, Wallace, Maegen, Bober, Michael, Eyre, David, Gomez, Danielle, Harris, Gerald, Hart, Tracy, Jain, Mahim, Krakow, Deborah, Krischer, Jeffrey, Orwoll, Eric, Nicol, Lindsey, Raggio, Cathleen, Smith, Peter, Tosi, Laura, Murali, Chaya N., Lee, Brendan, Sutton, V. Reid, Storch, Eric A.

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Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum von Keppler-Noreuil, Kim M., Sapp, Julie C., Lindhurst, Marjorie J., Parker, Victoria E.R., Blumhorst, Cathy, Darling, Thomas, Tosi, Laura L., Huson, Susan M., Whitehouse, Richard W., Jakkula, Eveliina, Grant, Ian, Balasubramanian, Meena, Chandler, Kate E., Fraser, Jamie L., Gucev, Zoran, Crow, Yanick J., Brennan, Leslie Manace, Clark, Robin, Sellars, Elizabeth A., Pena, Loren DM, Krishnamurty, Vidya, Shuen, Andrew, Braverman, Nancy, Cunningham, Michael L., Sutton, V. Reid, Tasic, Velibor, Graham Jr, John M., Geer Jr, Joseph, Henderson, Alex, Semple, Robert K., Biesecker, Leslie G.

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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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