TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus by Duy, Phan Q, Jux, Bettina, Zhao, Shujuan, Mekbib, Kedous Y, Dennis, Evan, Dong, Weilai, Nelson-Williams, Carol, Mehta, Neel H, Shohfi, John P, Juusola, Jane, Allington, Garrett, Smith, Hannah, Marlin, Sandrine, Belhous, Kahina, Monteleone, Berrin, Schaefer, G Bradley, Pisarska, Margareta D, Vásquez, Jaime, Estrada-Veras, Juvianee I, Keren, Boris, Mignot, Cyril, Flore, Leigh A, Palafoll, Irene V, Alper, Seth L, Lifton, Richard P, Haider, Shozeb, Moreno-De-Luca, Andres, Jin, Sheng Chih, Kolanus, Waldemar, Kahle, Kristopher T

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Distinctive phenotypes in two children with novel germline RUNX1 mutations - one with myeloid malignancy and increased fetal hemoglobin by Bagla, Shruti, Regling, Katherine A., Wakeling, Erin N., Gadgeel, Manisha, Buck, Steven, Zaidi, Ahmar U., Flore, Leigh A., Chicka, Michael, Schiffer, Charles A., Chitlur, Meera B., Ravindranath, Yaddanapudi

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A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome by Ghosh, Shereen G, Scala, Marcello, Beetz, Christian, Helman, Guy, Stanley, Valentina, Yang, Xiaoxu, Breuss, Martin W, Mazaheri, Neda, Selim, Laila, Hadipour, Fatemeh, Pais, Lynn, Stutterd, Chloe A, Karageorgou, Vasiliki, Begtrup, Amber, Crunk, Amy, Juusola, Jane, Willaert, Rebecca, Flore, Leigh A, Kennelly, Kelly, Spencer, Christopher, Brown, Martha, Trapane, Pamela, Hurst, Anna C E, Lane Rutledge, S, Goodloe, Dana H, McDonald, Marie T, Shashi, Vandana, Schoch, Kelly, Tomoum, Hoda, Zaitoun, Raghda, Hadipour, Zahra, Galehdari, Hamid, Pagnamenta, Alistair T, Mojarrad, Majid, Sedaghat, Alireza, Dias, Patrícia, Quintas, Sofia, Eslahi, Atiyeh, Shariati, Gholamreza, Bauer, Peter, Simons, Cas, Houlden, Henry, Issa, Mahmoud Y, Zaki, Maha S, Maroofian, Reza, Gleeson, Joseph G

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Genomic analyses reveal poaching hotspots and illegal trade in pangolins from Africa to Asia by Tinsman, Jen C, Gruppi, Cristian, Bossu, Christen M, Prigge, Tracey-Leigh, Harrigan, Ryan J, Zaunbrecher, Virginia, Koepfli, Klaus-Peter, LeBreton, Matthew, Njabo, Kevin, Wenda, Cheng, Xing, Shuang, Abernethy, Katharine, Ades, Gary, Akeredolu, Excellence, Andrew, Imuzei B, Barrett, Taneisha A, Bernáthová, Iva, Černá Bolfíková, Barbora, Diffo, Joseph L, Difouo Fopa, Ghislain, Ebong, Lionel Esong, Godwill, Ichu, Koumba Pambo, Aurélie Flore, Labuschagne, Kim, Nwobegahay Mbekem, Julius, Momboua, Brice R, Mousset Moumbolou, Carla L, Ntie, Stephan, Rose-Jeffreys, Elizabeth, Simo, Franklin T, Sundar, Keerthana, Swiacká, Markéta, Takuo, Jean Michel, Talla, Valery N K, Tamoufe, Ubald, Dingle, Caroline, Ruegg, Kristen, Bonebrake, Timothy C, Smith, Thomas B

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The James Webb Space Telescope Mission by Acton, Scott, Adams, Cynthia K., Aguilar, Jonathan Albert, Anderson, Harry James, Argyriou, Ioannis, Atcheson, Paul, Atkinson, Charles B., Bast, William, Bernier, Antoine-Darveau, Birkmann, Stephan, Blackwood, James D., Boegner Jr, Martin E., Bohlin, Ralph C., Boia, John Joseph, Boucarut, Rene A., Boyer, Michael, Brady, Gregory R., Brown, Bruce, Brown, Thomas M., Cesari, Thaddeus, Cetorelli, Lee D., Conroy, Kyle E., Contreras, James, Costanza, Brian F., Coulais, Alain, Coyle, Ray T., Cracraft, Misty M., Dencheva, Nadezhda M., Dethienne, Nathalie, Dicken, Daniel, Dixon, William V., Doria-Warner, Cristina M., Doty, Heather, Egami, Eiichi, Falcolini, Massimo, Fix, Mees, Florian, Michael, Framarini, Alexandro P., Francisco, John I., Franz, David E., Galkin, Sergey, Gallagher, Ben, Garrett, Bruce Albert, Gáspár, András, Gordon, Karl D., Greene, Gretchen R., Groe, Frank E., Güdel, Manuel, Gunn, Christopher A., Helm, Kristopher A., Henning, Thomas, Herrington, Donald C., Hunter, Alexander, Johnson, Carl A., Johnson, Timothy W., Jordan, Margaret E., Kidwell, Richard C., Lam, May Yen, Lewis, Jake, Love-Pruitt, Jennifer M., Macklis, Keith I., Malla, Sunita Giri, Marrione, Amanda, McGregor, Roy D., McKay, Andrew G., De Meester, Wim, Montoya, Emily E., Mosner, Peter, Nella, John, Noriega-Crespo, Alberto, Ogle, Patrick Michael, Osborne, Shannon Barbara, Outlaw, Daria J., Paschal, Laura, Perrin, Marshall D., Ramey, Deborah D., Rashford, Robert A., Rawle, Timothy, Rehm, Brian, Reoch, Tom B., Rigby, Jane R., Robberto, Massimo, Roman, Anthony J., Roy, Arpita, Sabata, Modhumita, Salvignol, Jean-Christophe, Schultz, John J., Seely, Bruce S., Sembach, Kenneth, Sienkiewicz, Matthew G., Sprofera, Joseph D., Sunnquist, Benjamin Dale, Tam Litten, Oi In, Van Tea, Mason, Thatte, Deepashri G., Tyra, Harrison, Warner, Gerald, Windhorst, Rogier, Wolfe, David J., Yadetie, Thomas

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SANFILLIPPO SYNDROME TYPE A IN A BOY WITH DOWN SYNDROME: A DUAL DIAGNOSTIC CHALLENGE by Cunningham, Mitch, Pomerantz, Daniel J., Stockton, David, Flore, Leigh Anne

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Genome Sequence of Lelliottia sp. Strain WAP21, Isolated from Soil in Canola Fields in Victoria, Australia by Tran, Phuong Nguyen, Md Zoqratt, Muhammad Zarul Hanifah, Michalczyk, Agnes, Ackland, M Leigh

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Living with and beyond metastatic non-small cell lung cancer: the survivorship experience for people treated with immunotherapy or targeted therapy by Lai-Kwon, Julia, Heynemann, Sarah, Flore, Jacinthe, Dhillon, Haryana, Duffy, Mary, Burke, John, Briggs, Lisa, Leigh, Lillian, Mileshkin, Linda, Solomon, Benjamin, Ball, David, Kokanovic, Renata, Jefford, Michael

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Updates in the Genetic Evaluation of the Child with Global Developmental Delay or Intellectual Disability by Flore, Leigh Anne, MD, Milunsky, Jeff M., MD

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P505: Sleeping giant: Underrecognized clinical genetics programs across the vast Veterans Affairs (VA) Network by Eble, Tanya, Morris, Benjamin, Lee, Christopher, Flore, Leigh Anne, Frank, Natasha, Peredo, Jane, Hinds, Lael, Pinter, Robert, Scheuner, Maren, Dhar, Shweta

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P39.06 Surviving Metastatic Non-Small Cell Lung Cancer – Experience and Supportive Care Needs of Patients Receiving Novel Therapies by Heynemann, S., Lai-Kwon, J., Flore, J., Dhillon, H., Duffy, M., Burke, J., Briggs, L., Leigh, L., Mileshkin, L., Solomon, B., Ball, D., Kokanovic, R., Jefford, M.

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Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin by Lasio, M. Laura Duque, Leshinski, Angela C., Ducich, Nicole H., Flore, Leigh Anne, Lehman, April, Shur, Natasha, Jayakar, Parul B., Hainline, Bryan E., Basinger, Alice A., Wilson, William G., Diaz, George A., Erbe, Richard W., Koeberl, Dwight D., Vockley, Jerry, Bedoyan, Jirair K.

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Public health preventive measures and child health behaviours during COVID-19: a cohort study by Li, Xuedi, Vanderloo, Leigh M., Maguire, Jonathon L., Keown-Stoneman, Charles D. G., Aglipay, Mary, Anderson, Laura N., Cost, Katherine Tombeau, Charach, Alice, Vanderhout, Shelley M., Birken, Catherine S.

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Mitochondrial encoded NADH dehydrogenase 5 (MT-ND5) gene point mutation presents as late onset cardiomyopathy by Ayalon, Nir, Flore, Leigh Anne, Christensen, Thomas G, Sam, Flora

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Early childhood body mass index growth and school readiness: A longitudinal cohort study by Li, Xuedi, Kahane, Alyssa, Omand, Jessica A., Borkhoff, Cornelia M., Parkin, Patricia C., Simpson, Janis Randall, Tremblay, Mark S., Vanderloo, Leigh M., Duku, Eric, Reid‐Westoby, Caroline, Janus, Magdalena, Maguire, Jonathon L., Allen, Christopher, D’Annunzio, Danielle, Jaleel, Mateenah, Aglipay, Mary, Carsley, Sarah, Charach, Alice, D’Hollander, Curtis, Fuller, Anne, Kinlin, Laura, Li, Patricia, Parkin, Pat, Konara Mudiyanselage, Piyumi, Mitchell, Michelle, Yoshida‐Montezuma, Yulika, Zaffar, Nusrat, Buckley, Trudy‐Ann, Kurt, Kardelen, Loganathan, Sangeetha, Batten, Jennifer, Chan, Jennifer, Clark, John, De Castris‐Garcia, Kim, Dharman, Sharon, Kelleher, Sarah, Nasser, Salimah, Salsa, Rafael, Skelding, Julie, Stern, Daniel, Stewart, Kerry, Weir, Shannon, Anderson, Kelly, Bergeron, Sylvie, Bonifacio, Joey, Chisamore, Brian, Constantin, Evelyn, Das, Paul, Derocher, Mary Beth, Do, Anh, EggerN, Anne, Farber, Allison, Freeman, Sloane, Gazeley, Sharon, Grewal, Karen, Guiang, Charlie, HansonN, Laura, Jacobson, Sheila, Jansz, Gwen, Kadar, Paul, Keiswetter, Lukas, Knowles, Holly, Kwok, Bruce, Lahiry, Piya, Lakhoo, Sheila, Lau, Eddy, Leduc, Denis, Leung, Fok‐Han, Li, Alan, Male, Roy, Mok, Elise, NashN, Katherine, Owen, James, Persaud, Navindra, Pinto, Andrew, Porepa, Michelle, Qi, Vikky, Ramji, Noor, Raza, Danyaal, Rouleau, Katherine, Ruderman, Caroline, Sgro, Michael, Shuja, Hafiz, Siam, Farah, Shepherd, Susan, Taylor, Carolyn, Turner, Suzanne, Uddin, Fatima, Weisdorf, Thea, Young, Elizabeth, Ara Begum, Esmot, Juni, Peter, Nnorom, Ifeayinchukwu (Shawn), Denzel Nunez, Marc, Stitt, Audra, Thorpe, Kevin, Bondar, Homa, Charames, George S., Djolovic, Andrea, Kandel, Rita

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MON-264 Familial Neonatal Nonautoimmune Hyperthyroidism Due To A Thyrotropin Receptor Gene Mutation (A619G) by Taha, Doris, Adhikari, Amita, Thirunagari, Rajeev, Senguttuvan, Rajan, Flore, Leigh Anne

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RASA1 analysis guides management in a family with capillary malformation-arteriovenous malformation by Flore, Leigh Anne, Leon, Eyby, Maher, Tom A., Milunsky, Jeff M.

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Transmission of ring chromosome 13 from a mother to daughter with both having a 46,XX, r(13)(p13q34) karyotype by Bedoyan, Jirair K., Flore, Leigh Anne, Alkatib, Aziz, Ebrahim, Salah A., Bawle, Erawati V.

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Mitochondrial encoded NADH dehydrogenase 5 (MT-ND5) gene point mutation presents as late onset cardiomyopathy by Ayalon, Nir, Flore, Leigh Anne, Christensen, Thomas G, Sam, Flora

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Transmission of ring chromosome 13 from a mother to daughter with both having a 46,XX, r(13)(p13q34) karyotype by Bedoyan, Jirair K., Flore, Leigh Anne, Alkatib, Aziz, Ebrahim, Salah A., Bawle, Erawati V.

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