Underlying Genetic Diagnosis of Pierre Robin Sequence: Retrospective Chart Review at Two Children’s Hospitals and a Systematic Literature Review von Izumi, Kosuke, MD, Konczal, Laura L., MD, Mitchell, Anna L., MD, Jones, Marilyn C., MD

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Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy von Nguyen, Thi Tuyet Mai, Murakami, Yoshiko, Wigby, Kristen M., Baratang, Nissan V., Rousseau, Justine, St-Denis, Anik, Rosenfeld, Jill A., Laniewski, Stephanie C., Jones, Julie, Iglesias, Alejandro D., Jones, Marilyn C., Masser-Frye, Diane, Scheuerle, Angela E., Perry, Denise L., Taft, Ryan J., Le Deist, Françoise, Thompson, Miles, Kinoshita, Taroh, Campeau, Philippe M.

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Health Supervision for People With Achondroplasia von Hoover-Fong, Julie, Scott, Charles, Jones, Marilyn C.

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A novel autosomal dominant mutation in SOX18 resulting in a fatal case of hypotrichosis–lymphedema–telangiectasia syndrome von Wangberg, Hannah, Wigby, Kristen, Jones, Marilyn C.

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The Cost of Serious Fall-Related Injuries at Three Midwestern Hospitals von Wong, Catherine A., Recktenwald, Angela J., Jones, Marilyn L., Waterman, Brian M., Bollini, Mara L., Dunagan, Wm. Claiborne

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Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature von Au, P Y Billie, Goedhart, Caitlin, Ferguson, Marcia, Breckpot, Jeroen, Devriendt, Koenraad, Wierenga, Klaas, Fanning, Elizabeth, Grange, Dorothy K, Graham, Gail E, Galarreta, Carolina, Jones, Marilyn C, Kini, Usha, Stewart, Helen, Parboosingh, Jillian S, Kline, Antonie D, Innes, A Micheil

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Further delineation of the CWC27‐associated spliceosomeopathy: Case report and review of the literature von Yassin, Shaden H., Henderson, Riley, Lenberg, Jerica, Murillo, Viridiana, Murdock, David R., Friedman, Jennifer, Jones, Marilyn C., Wigby, Kristen, Borooah, Shyamanga

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Artificial Urinary Sphincter Complications: A Narrative Review von Frazier, Ryan L, Jones, Marilyn E, Hofer, Matthias D

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X-linked neonatal-onset epileptic encephalopathy associated with a gain-of-function variant p.R660T in GRIA3 von Sun, Jia-Hui, Chen, Jiang, Valenzuela, Fernando Eduardo Ayala, Brown, Carolyn, Masser-Frye, Diane, Jones, Marilyn, Romero, Leslie Patron, Rinaldi, Berardo, Li, Wenhui Laura, Li, Qing-Qing, Wu, Dan, Gerard, Benedicte, Thorpe, Erin, Bayat, Allan, Shi, Yun Stone

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Memory Deficits after Resection from Left or Right Anterior Temporal Lobe in Humans: A Meta‐Analytic Review von Lee, Tatia M. C., Yip, James T. H., Jones‐Gotman, Marilyn

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Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay von Weiss, Karin, Wigby, Kristen, Fannemel, Madeleine, Henderson, Lindsay B, Beck, Natalie, Ghali, Neeti, Study, D D D, Anderlid, Britt-Marie, Lundin, Johanna, Hamosh, Ada, Jones, Marilyn C, Ghedia, Sondhya, Muenke, Maximilian, Kruszka, Paul

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Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions von Verscaj, Courtney P, Velez-Bartolomei, Frances, Bodle, Ethan, Chan, Katie, Lyons, Michael J, Thorson, Willa, Tan, Wen-Hann, Rodig, Nancy, Graham, Jr, John M, Peron, Angela, Quintero-Rivera, Fabiola, Zackai, Elaine H, Thomas, Mary Ann, Stevens, Cathy A, Adam, Margaret P, Bird, Lynne M, Jones, Marilyn C, Matalon, Dena R

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Management Principles for Acute Illness in Patients With Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency von McGregor, Tracy L., Berry, Susan A., Dipple, Katrina M., Hamid, Rizwan

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Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome‐wide sequencing von Wigby, Kristen, Hammer, Monia, Tokita, Mari, Patel, Priyanka, Jones, Marilyn C., Larson, Austin, Bartolomei, Frances Velez, Dykzeul, Natalie, Slavotinek, Anne, Yip, Tiffany, Bandres‐Ciga, Sara, Simpson, Brittany N., Suhrie, Kristen, Shankar, Suma, Veith, Regan, Bragg, Jennifer, Powell, Cynthia, Kingsmore, Stephen F., Dimmock, David, Maron, Jill, Davis, Jonathan, Del Campo, Miguel

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A fetal diagnostic center’s referral rate for perinatal palliative care von Marc-Aurele, Krishelle L., Hull, Andrew D., Jones, Marilyn C., Pretorius, Dolores H.

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Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder von Jones, Marilyn C., Topol, Sarah E., Rueda, Manuel, Oliveira, Glenn, Phillips, Tierney, Spencer, Emily G., Torkamani, Ali

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Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility von Wang, Jia-Chi, Ross, Leslie, Mahon, Loretta W, Owen, Renius, Hemmat, Morteza, Wang, Boris T, El Naggar, Mohammed, Kopita, Kimberly A, Randolph, Linda M, Chase, John M, Matas Aguilera, Maria J, Siles, Juan López, Church, Joseph A, Hauser, Natalie, Shen, Joseph J, Jones, Marilyn C, Wierenga, Klaas J, Jiang, Zhijie, Haddadin, Mary, Boyar, Fatih Z, Anguiano, Arturo, Strom, Charles M, Sahoo, Trilochan

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The neuronal substrates of human olfactory based kin recognition von Lundström, Johan N., Boyle, Julie A., Zatorre, Robert J., Jones-Gotman, Marilyn

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Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene von Rosti, Rasim O., Dikoglu, Esra, Zaki, Maha S., Abdel-Salam, Ghada, Makhseed, Nawal, Sese, Jordan C., Musaev, Damir, Rosti, Basak, Harbert, Mary J., Jones, Marilyn C., Vaux, Keith K., Gleeson, Joseph G.

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Ghrelin Enhances Food Odor Conditioning in Healthy Humans: An fMRI Study von Han, Jung Eun, Frasnelli, Johannes, Zeighami, Yashar, Larcher, Kevin, Boyle, Julie, McConnell, Ted, Malik, Saima, Jones-Gotman, Marilyn, Dagher, Alain

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