Acrofacial dysostosis, Cincinnati type: a mandibulofacial dysostosis syndrome with limb anomalies caused by POLR1A dysfunction by Weaver, K. Nicole, Noack Watt, Kristin E., Hufnagel, Robert B., Acedo, Joaquin Navajas, Linscott, Luke L., Sund, Kristen L., Bender, Patricia L., König, Rainer, Lourenco, Charles M., Hehr, Ute, Hopkin, Robert J., Lohmann, Dietmar R., Trainor, Paul A., Wieczorek, Dagmar, Saal, Howard M.

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Using human sequencing to guide craniofacial research by Liegel, Ryan P., Finnerty, Erin, Blizzard, Lauren, DiStasio, Andrew, Hufnagel, Robert B., Saal, Howard M., Sund, Kristen L., Prows, Cynthia A., Stottmann, Rolf W.

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Confirmatory testing illustrates additional risks for structural sex chromosome abnormalities in fetuses with a non‐invasive prenatal screen positive for monosomy X by Sund, Kristen L., Khattar, Divya, Boomer, Theresa, Caldwell, Samantha, Dyer, Lisa, Hopkin, Robert J., Smolarek, Teresa A.

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Long‐read sequencing and optical genome mapping identify causative gene disruptions in noncoding sequence in two patients with neurologic disease and known chromosome abnormalities... by Sund, Kristen L., Liu, Jie, Lee, Joyce, Garbe, John, Abdelhamed, Zakia, Maag, Chelsey, Hallinan, Barbara, Wu, Steven W., Sperry, Ethan, Deshpande, Archana, Stottmann, Rolf, Smolarek, Teresa A., Dyer, Lisa M., Hestand, Matthew S.

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The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system by Mandl, Kenneth D, Glauser, Tracy, Krantz, Ian D, Avillach, Paul, Bartels, Anna, Beggs, Alan H, Biswas, Sawona, Bourgeois, Florence T, Corsmo, Jeremy, Dauber, Andrew, Devkota, Batsal, Fleisher, Gary R, Heath, Allison P, Helbig, Ingo, Hirschhorn, Joel N, Kilbourn, Judson, Kong, Sek Won, Kornetsky, Susan, Majzoub, Joseph A, Marsolo, Keith, Martin, Lisa J, Nix, Jeremy, Schwarzhoff, Amy, Stedman, Jason, Strauss, Arnold, Sund, Kristen L, Taylor, Deanne M, White, Peter S, Marsh, Eric, Grimberg, Adda, Hawkes, Colin

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A mutation in FRIZZLED2 impairs Wnt signaling and causes autosomal dominant omodysplasia by Saal, Howard M, Prows, Cynthia A, Guerreiro, Iris, Donlin, Milene, Knudson, Luke, Sund, Kristen L, Chang, Ching-Fang, Brugmann, Samantha A, Stottmann, Rolf W

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Correction: The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system by Mandl, Kenneth D, Glauser, Tracy, Krantz, Ian D, Avillach, Paul, Bartels, Anna, Beggs, Alan H, Biswas, Sawona, Bourgeois, Florence T, Corsmo, Jeremy, Dauber, Andrew, Devkota, Batsal, Fleisher, Gary R, Heath, Allison P, Helbig, Ingo, Hirschhorn, Joel N, Kilbourn, Judson, Kong, Sek Won, Kornetsky, Susan, Majzoub, Joseph A, Marsolo, Keith, Martin, Lisa J, Nix, Jeremy, Schwarzhoff, Amy, Stedman, Jason, Strauss, Arnold, Sund, Kristen L, Taylor, Deanne M, White, Peter S, Marsh, Eric, Grimberg, Adda, Hawkes, Colin

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Genetic Testing Practices in Infants with Congenital Heart Disease by Connor, Jessica A., Hinton, Robert B., Miller, Erin M., Sund, Kristen L., Ruschman, Jennifer G., Ware, Stephanie M.

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Keutel syndrome: Report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis by Weaver, K. Nicole, El Hallek, Moussa, Hopkin, Robert J., Sund, Kristen L., Henrickson, Michael, del Gaudio, Daniela, Yuksel, Adnan, Acar, Gül Ozbilen, Bober, Michael B., Kim, Jinoh, Boyadjiev, Simeon A.

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Abstract A58: Curation of pediatric cancer variants within the Clinical Genome Resource (ClinGen) by Church, Alanna J., Rao, Shruti, Ritter, Deborah, Danos, Arpad, Krysiak, Kilann, Corson, Laura B., Fisher, Kevin E., Hiemenz, Matthew, Janeway, Katherine A., Ji, Jianling, Kesserwan, Chimene A., Laetsch, Theodore W., Parsons, Donald W., Schmidt, Ryan J., Sund, Kristen L., Lin, Wan-Hsin, Griffith, Malachi, Griffith, Obi L., Kulkarni, Shashikant, Madhavan, Subha, Roy, Angshumoy, Raca, Gordana

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Abstract 210: Advancing knowledgebase representation of pediatric cancer variants through ClinGen/CIViC collaboration by Danos, Arpad, Lin, Wan-Hsin, Saliba, Jason, Roy, Angshumoy, Church, Alanna J., Rao, Shruti, Ritter, Deborah, Krysiak, Kilannin, Wagner, Alex, Barnell, Erica, Sheta, Lana, Coffman, Adam, Kiwala, Susanna, McMichael, Joshua F., Corson, Laura, Fisher, Kevin, Williams, Heather E., Hiemenz, Matthew, Janeway, Katherine A., Ji, Jianling, Chimene, Kesserwan A., Fuqua, Laura, Dyer, Lisa, Xu, Huiling, Jean, Jeffrey, Satgunaseelan, Laveniya, Zhang, Liying, Laetsch, Ted W., Parsons, Donald W., Schmidt, Ryan, Schriml, Lynn M., Sund, Kristen L., Kulkarni, Shashikant, Madhavan, Subha, Xu, Xinjie, Kanagal-Shamana, Rashmi, Harris, Marian, Akkari, Yasmine, Yacov, Nurit Paz, Terraf, Panieh, Griffith, Malachi, Griffith, Obi L., Raca, Gordana

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The Genomics Research and Innovation Network: creating aninteroperable, federated, genomics learning system by Mandl, Kenneth D, Glauser, Tracy, Krantz, Ian D, Avillach, Paul, Bartels, Anna, Beggs, Alan H, Biswas Sawona, Bourgeois, Florence T, Corsmo Jeremy, Dauber, Andrew, Devkota Batsal, Fleisher, Gary R, Heath, Allison P, Helbig Ingo, Hirschhorn, Joel N, Kilbourn Judson, Kong Sek Won, Kornetsky, Susan, Majzoub, Joseph A, Marsolo Keith, Martin, Lisa J, Nix, Jeremy, Schwarzhoff Amy, Stedman, Jason, Strauss, Arnold, Sund, Kristen L, Taylor, Deanne M, White, Peter S, Marsh, Eric, Grimberg Adda, Hawkes, Colin, Barkman Darlene, Borglund, Erin M, Chakrabarty Ramkrishna, Chandel Alka, Degala Anil Kumar, DeSain, Thomas, Dexheimer, Philip, Divekar Parth, Ellis, Alyssa, Furgason, Mike, Geehan, Christopher, Guidetti, Andrew Joseph, Gutierrez, Alba, Hallinan, Barbara, Harper, Becca, Jalali Niloofar, Khanna Jaspreet, Kirby, Christopher, Korodi Gabor, Kouril Michal, Kratchman, Amy, Kumar Ranjay, Labilloy Guillaume, Lee, In-Hee, Bria, Morgan, Morgan, James, Muglia, Louis J, Nikitin Aleksandr, Pistone, Mike, Poduri, Anna, Rupert, Andrew, Safier, Kristen, Sliz Piotr, Stevenson Gelvina, Geme Joseph St III, Thaker Vidhu, Temporal Simone, Velayutham Prakash, Wijesooriya Julie, Wolf, Bryan, Wooten, Andrew, Yen, Alan, Zhang, Yu

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34. Curation of variants associated with pediatric tumors within the Clinical Genome Resource (ClinGen) by Raca, Gordana, Rao, Shruti, Ritter, Deborah, Danos, Arpad, Krysiak, Kilannin, Church, Alanna J., Corson, Laura, Fisher, Kevin, Hiemenz, Matthew, Janeway, Katherine A., Ji, Jianling, Kesserwan, Chimene A., Laetsch, Ted W., Parsons, Donald W., Schmidt, Ryan, Sund, Kristen L., Griffith, Malachi, Griffith, Obi, Kulkarni, Shashikant, Madhavan, Subha, Roy, Angshumoy

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Genetic Testing Practices in Infants with Congenital Heart Disease: Genetic Testing Practices in Infants by Connor, Jessica A., Hinton, Robert B., Miller, Erin M., Sund, Kristen L., Ruschman, Jennifer G., Ware, Stephanie M.

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An Ugo1-like protein is associated with optic atrophy ‘plus’ disorders by Abrams, Alexander J., Hufnagel, Robert B., Rebelo, Adriana, Zanna, Claudia, Patel, Neville, Gonzalez, Michael A., Campeanu, Ion J., Griffin, Laurie B., Groenewald, Saskia, Strickland, Alleene V., Tao, Feifei, Speziani, Fiorella, Caporali, Leonardo, La Morgia, Chiara, Liguori, Rocco, Lodi, Raffaele, Ahmed, Zubair M., Sund, Kristen L., Wang, Xinjian, Krueger, Laura A., Peng, Yanyan, Prada, Carlos E., Prows, Cynthia A., Bove, Kevin, Schorry, Elizabeth K., Antonellis, Anthony, Zimmerman, Holly H., Abdulrahman, Omar A., Yang, Yaping, Downes, Susan M., Prince, Jeffery, Nemeth, Andrea H., Carelli, Valerio, Huang, Taosheng, Julia, Dallman, Zuchner, Stephan

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Regions of homozygosity identified by SNP microarray analysis aid in the diagnosis of autosomal recessive disease and incidentally detect parental blood relationships by Sund, Kristen Lipscomb, Zimmerman, Sarah L, Thomas, Cameron, Mitchell, Anna L, Prada, Carlos E, Grote, Lauren, Bao, Liming, Martin, Lisa J, Smolarek, Teresa A

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A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy by Helbig, Ingo, Lopez-Hernandez, Tania, Shor, Oded, Galer, Peter, Ganesan, Shiva, Pendziwiat, Manuela, Rademacher, Annika, Ellis, Colin A., Hümpfer, Nadja, Schwarz, Niklas, Seiffert, Simone, Peeden, Joseph, Shen, Joseph, Štěrbová, Katalin, Hammer, Trine Bjørg, Møller, Rikke S., Shinde, Deepali N., Tang, Sha, Smith, Lacey, Poduri, Annapurna, Krause, Roland, Benninger, Felix, Helbig, Katherine L., Haucke, Volker, Weber, Yvonne G., Balling, Rudi, Barisic, Nina, Baulac, Stéphanie, Caglayan, Hande, Craiu, Dana, De Jonghe, Peter, Depienne, Christel, Guerrini, Renzo, Hjalgrim, Helle, Hoffman-Zacharska, Dorota, Jähn, Johanna, Klein, Karl Martin, Koeleman, Bobby P.C., Komarek, Vladimir, Leguern, Eric, Lehesjoki, Anna-Elina, Lemke, Johannes R., Lerche, Holger, Linnankivi, Tarja, Marini, Carla, May, Patrick, Muhle, Hiltrud, Pal, Deb K., Palotie, Aarno, Rosenow, Felix, Schubert-Bast, Susanne, Selmer, Kaja, Serratosa, Jose M., Sisodiya, Sanjay, Stephani, Ulrich, Striano, Pasquale, Suls, Arvid, Talvik, Tiina, von Spiczak, Sarah, Weckhuysen, Sarah, Zara, Federico, Avillach, Paul, Bartels, Anna, Biswas, Sawona, Bourgeois, Florence, Devkota, Batsal, Glauser, Tracy, Hallinan, Barbara, Heath, Allison, Hirschhorn, Joel, Kilbourn, Judson, Kong, Sek Won, Krantz, Ian, Lee, In-Hee, Mandl, Kenneth D., Marsh, Eric, Sund, Kristen, Taylor, Deanne, White, Peter

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Variability in laboratory reporting practices for regions of homozygosity indicating parental relatedness as identified by SNP microarray testing by Grote, Lauren, Myers, Melanie, Lovell, Anne, Saal, Howard, Lipscomb Sund, Kristen

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Looking down the atrioventricular canal by Benson, D. Woodrow, Sund, Kristen Lipscomb

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Analysis of maternal risk factors associated with congenital vertebral malformations by Hesemann, Jennifer, Lauer, Emily, Ziska, Stephen, Noonan, Kenneth, Nemeth, Blaise, Scott-Schwoerer, Jessica, McCarty, Catherine, Rasmussen, Kristen, Goldberg, Jacob M, Sund, Sarah, Eickhoff, Jens, Raggio, Cathleen L, Giampietro, Philip F

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