Biochemical characterization of patients with dihydrolipoamide dehydrogenase deficiency von Wongkittichote, Parith, Cuddapah, Sanmati R, Master, Stephen R, Grange, Dorothy K, Dietzen, Dennis, Roper, Stephen M, Ganetzky, Rebecca D

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Newborn Screening for Pompe Disease: Pennsylvania Experience von Ficicioglu, Can, Ahrens-Nicklas, Rebecca C., Barch, Joshua, Cuddapah, Sanmati R., DiBoscio, Brenda S., DiPerna, James C., Gordon, Patricia L., Henderson, Nadene, Menello, Caitlin, Luongo, Nicole, Ortiz, Damara, Xiao, Rui

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Liver Transplant From a Deceased Donor With Cystinosis: A Case Report von Taj, Raeda, Ng, Kim, Cuddapah, Sanmati R., Rand, Elizabeth B., Bleicher, Melissa, Amaral, Sandra, Hoteit, Maarouf A., Reddy, Rajendar K., Feyssa, Eyob, Furth, Emma E., Olthoff, Kim M., Abu‐Gazala, Samir, Levine, Matthew H., Vyas, Frederick, Abt, Peter L.

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Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature von Priestley, Jessica R.C., Pace, Lisa M., Sen, Kuntal, Aggarwal, Anjali, Alves, Cesar Augusto P.F., Campbell, Ian M., Cuddapah, Sanmati R., Engelhardt, Nicole M., Eskandar, Marina, Jolín García, Paloma C., Gropman, Andrea, Helbig, Ingo, Hong, Xinying, Gowda, Vykuntaraju K., Lusk, Laina, Trapane, Pamela, Srinivasan, Varunvenkat M., Suwannarat, Pim, Ganetzky, Rebecca D.

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2-Methylglutaconic acid as a biomarker in routine urine organic acids leading to the diagnosis of glutaric acidemia type I in a low excretor von Wongkittichote, Parith, Hong, Xinying, Master, Stephen R., Kaur, Shagun, Cuddapah, Sanmati R., He, Miao

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Clinical Effectiveness of Telemedicine-Based Pediatric Genetics Care von Szigety, Katherine M, Crowley, Terrence B, Gaiser, Kimberly B, Chen, Erin Y, Priestley, Jessica R C, Williams, Lydia S, Rangu, Sneha A, Wright, Christina M, Adusumalli, Priyanka, Ahrens-Nicklas, Rebecca C, Calderon, Brandon, Cuddapah, Sanmati R, Edmondson, Andrew, Ficicioglu, Can, Ganetzky, Rebecca, Kalish, Jennifer M, Krantz, Ian D, McDonald-McGinn, Donna M, Medne, Livija, Muraresku, Colleen, Pyle, Louise C, Zackai, Elaine H, Campbell, Ian M, Sheppard, Sarah E

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IRF6 Sequencing in Interrupted Clefting von Cuddapah, Sanmati R., Kominek, Selma, Grant, John H., Robin, Nathaniel H.

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Expanding the phenotypic spectrum of ARCN1-related syndrome von Ritter, Alyssa L., Gold, Jessica, Hayashi, Hiroshi, Ackermann, Amanda M., Hanke, Stephanie, Skraban, Cara, Cuddapah, Sanmati, Bhoj, Elizabeth, Li, Dong, Kuroda, Yukiko, Wen, Jessica, Takeda, Ryojun, Bibb, Audrey, El Chehadeh, Salima, Piton, Amélie, Ohl, Jeanine, Kukolich, Mary K., Nagasaki, Keisuke, Kato, Kohji, Ogi, Tomoo, Bhatti, Tricia, Russo, Pierre, Krock, Bryan, Murrell, Jill R., Sullivan, Jennifer A., Shashi, Vandana, Stong, Nicholas, Hakonarson, Hakon, Sawano, Kentaro, Torti, Erin, Willaert, Rebecca, Si, Yue, Wilcox, William Ross, Wirgenes, Katrine Verena, Thomassen, Kristian, Carlotti, Katherine, Erwin, Angelika, Lazier, Joanna, Marquardt, Thorsten, He, Miao, Edmondson, Andrew C., Izumi, Kosuke

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A new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in RNF213 von Strong, Alanna, O'Grady, Gina, Shih, Evelyn, Bishop, Jonathan R., Loomes, Kathleen, Diamond, Tamir, Hartung, Erum A., Wong, William, Cuddapah, Sanmati, Cahill, Anne Marie, Hou, Cuiping, Slater, Diana, Vaccaro, Courtney, Watson, Deborah, Li, Dong, Hakonarson, Hakon

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A new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in RNF213 von Strong, Alanna, O'Grady, Gina, Shih, Evelyn, Bishop, Jonathan R, Loomes, Kathleen, Diamond, Tamir, Hartung, Erum A, Wong, William, Cuddapah, Sanmati, Cahill, Anne Marie, Hou, Cuiping, Slater, Diana, Vaccaro, Courtney, Watson, Deborah, Li, Dong, Hakonarson, Hakon

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