Case Report: An association of left ventricular outflow tract obstruction with 5p deletions von Mascho, Kira, Yatsenko, Svetlana A, Lo, Cecilia W, Xu, Xinxiu, Johnson, Jennifer, Helvaty, Lindsey R, Burns Wechsler, Stephanie, Murali, Chaya N, Lalani, Seema R, Garg, Vidu, Hodge, Jennelle C, McBride, Kim L, Ware, Stephanie M, Lin, Jiuann-Huey Ivy

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A Multicenter Analysis of Abnormal Chromosomal Microarray Findings in Congenital Heart Disease von Landis, Benjamin J., Helvaty, Lindsey R., Geddes, Gabrielle C., Lin, Jiuann‐Huey Ivy, Yatsenko, Svetlana A., Lo, Cecilia W., Border, William L., Wechsler, Stephanie Burns, Murali, Chaya N., Azamian, Mahshid S., Lalani, Seema R., Hinton, Robert B., Garg, Vidu, McBride, Kim L., Hodge, Jennelle C., Ware, Stephanie M.

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A novel de novo pathogenic variant in TBL1XR1 as a new proposed cause of Pierpont syndrome von Tamma, Poornima L., Streff, Haley, Murali, Chaya N.

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Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy von Shieh, Joseph T., Tintos-Hernandez, Jesus A., Murali, Chaya N., Penon-Portmann, Monica, Flores-Mendez, Marco, Santana, Adrian, Bulos, Joshua A., Du, Kang, Dupuis, Lucie, Damseh, Nadirah, Mendoza-Londoño, Roberto, Berera, Camilla, Lee, Julieann C., Phillips, Joanna J., Alves, César A.P.F., Dmochowski, Ivan J., Ortiz-González, Xilma R.

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A familial deletion of 10p12.1 associated with thrombocytopenia von Manohar, Sujal, Gofin, Yoel, Streff, Haley, Vossaert, Liesbeth, Camacho, Pamela, Murali, Chaya N.

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Quality of life, illness perceptions, and parental lived experiences in TANGO2-related metabolic encephalopathy and arrhythmias von Murali, Chaya N, Lalani, Seema R, Azamian, Mahshid S, Miyake, Christina Y, Smith, Hadley Stevens

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TRMU deficiency: A broad clinical spectrum responsive to cysteine supplementation von Murali, Chaya N., Soler-Alfonso, Claudia, Loomes, Kathleen M., Shah, Amit A., Monteil, Danielle, Padilla, Carmencita D., Scaglia, Fernando, Ganetzky, Rebecca

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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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Health-related quality of life in a systematically assessed cohort of children and adults with urea cycle disorders von Murali, Chaya N., Barber, John R., McCarter, Robert, Zhang, Anqing, Gallant, Natalie, Simpson, Kara, Dorrani, Naghmeh, Wilkening, Greta N., Hays, Ron D., Lichter-Konecki, Uta, Burrage, Lindsay C., Nagamani, Sandesh C.S.

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Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes von Smal, Noor, Majdoub, Fatma, Janssens, Katrien, Reyniers, Edwin, Meuwissen, Marije E. C., Ceulemans, Berten, Northrup, Hope, Hill, Jeremy B., Liu, Lingying, Errichiello, Edoardo, Gana, Simone, Strong, Alanna, Rohena, Luis, Franciskovich, Rachel, Murali, Chaya N., Huybrechs, An, Sulem, Telma, Fridriksdottir, Run, Sulem, Patrick, Stefansson, Kari, Bai, Yan, Rosenfeld, Jill A., Lalani, Seema R., Streff, Haley, Kooy, R. Frank, Weckhuysen, Sarah

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A multicenter study to evaluate pain characteristics in osteogenesis imperfecta von Rodriguez Celin, Mercedes, Kruger, Karen M., Caudill, Angela, Murali, Chaya N., Nagamani, Sandesh C. S., Smith, Peter A., Harris, Gerald F.

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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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Sudden infant death with dysgenesis of the testes syndrome in a non‐Amish infant: A case report von Slater, Brady, Glinton, Kevin, Dai, Hongzheng, Lay, Erica, Karaviti, Lefkothea, Mizerik, Elizabeth, Murali, Chaya N., Lalani, Seema R., Bacino, Carlos A., Rossetti, Linda Z.

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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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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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Pediatric Outcomes Data Collection Instrument is a Useful Patient-Reported Outcome Measure for Physical Function in Children with Osteogenesis Imperfecta von Murali, Chaya N., Cuthbertson, David, Slater, Brady, Nguyen, Dianne, Turner, Alicia, Harris, Gerald, Sutton, V. Reid, Lee, Brendan, Rauch, Frank, Glorieux, Francis, Retrouvey, Jean-Marc, Esposito, Paul, Rush, Eric, Bober, Michael, Eyre, David, Gomez, Danielle, Hart, Tracy, Jain, Mahim, Krakow, Deborah, Krischer, Jeffrey, Orwoll, Eric, Raggio, Cathleen, Smith, Peter, Tosi, Laura, Nagamani, Sandesh C.

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Psychosocial Outcomes of Pain and Pain Management in Adults with Osteogenesis Imperfecta: A Qualitative Study von Shepherd, Whitney S., Wiese, Andrew D., Cho, Hannah E., Rork, W. Conor, Baig, M. Usman, Kostick, Kristin M., Nguyen, Dianne, Carter, Erin M., Murali, Chaya N., Robinson, Marie-Eve, Schneider, Sophie C., Lee, Brendan, Sutton, V. Reid, Storch, Eric A.

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Muenke syndrome: Medical and surgical comorbidities and long‐term management von Murali, Chaya N., McDonald‐McGinn, Donna M., Wenger, Tara Lynn, McDougall, Carey, Stroup, Bridget M., Sheppard, Sarah E., Taylor, Jesse, Bartlett, Scott P., Bhoj, Elizabeth J., Zackai, Elaine H., Santani, Avni

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A multicenter cross-sectional study in infants with congenital heart defects demonstrates high diagnostic yield of genetic testing but variable evaluation practices von Durbin, Matthew D., Helvaty, Lindsey R., Li, Ming, Border, William, Fitzgerald-Butt, Sara, Garg, Vidu, Geddes, Gabrielle C., Helm, Benjamin M., Lalani, Seema R., McBride, Kim L., McEntire, Alexis, Mitchell, Dana K., Murali, Chaya N., Wechsler, Stephanie B., Landis, Benjamin J., Ware, Stephanie M.

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Multicenter Study of Pain in Osteogenesis Imperfecta von Celin, Mercedes Rodriguez, Kruger, Karen, Caudill, Angela, Murali, Chaya N, Nagamani, Sandesh, Smith, Peter A, Harris, Gerald

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