MEF2C regulates NK cell effector functions through control of lipid metabolism von Li, Joey H., Zhou, Adalia, Lee, Cassidy D., Shah, Siya N., Ji, Jeong Hyun, Senthilkumar, Vignesh, Padilla, Eddie T., Ball, Andréa B., Feng, Qinyan, Bustillos, Christian G., Riggan, Luke, Greige, Alain, Divakaruni, Ajit S., Annese, Fran, Cooley Coleman, Jessica A., Skinner, Steven A., Cowan, Christopher W., O’Sullivan, Timothy E.

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Advanced practice providers in the medical genetics workforce: A nationwide survey von Patterson, Wesley G., Offord, Stephanie J., Buch, Laura D., Lewis, Gina M., Andrews, Ashley, Sparks, Kaelyn B., Cooley Coleman, Jessica A., Tribble, Leta M.

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The smallest likely pathogenic duplication of a SOX9 enhancer identified to date in a family with 46,XX testicular differences of sex development von Sajan, Samin A, Brown, Carolyn M, Davis-Keppen, Laura, Burns, Kaitlyn, Royer, Erin, Coleman, Jessica A Cooley, Hilton, Benjamin A, DuPont, Barbara R, Perry, Denise L, Taft, Ryan J, Kesari, Akanchha

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Mosaicism of common pathogenic MECP2 variants identified in two males with a clinical diagnosis of Rett syndrome von Cooley Coleman, Jessica A., Fee, Timothy, Bend, Renee, Louie, Raymond, Annese, Fran, Stallworth, Jennifer, Worthington, Jessica, Buchanan, Caroline Black, Everman, David B., Skinner, Steven, Friez, Michael J., Jones, Julie R., Spellicy, Catherine J.

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Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders von McGee, Stacey R, Rajamanickam, Shivakumar, Adhikari, Sandeep, Falayi, Oluwatosin C, Wilson, Theresa A, Shayota, Brian J, Cooley Coleman, Jessica A, Skinner, Cindy, Caylor, Raymond C, Stevenson, Roger E, Quaio, Caio Robledo D' Angioli Costa, Wilke, Berenice Cunha, Bain, Jennifer M, Anyane-Yeboa, Kwame, Brown, Kaitlyn, Greally, John M, Bijlsma, Emilia K, Ruivenkamp, Claudia A L, Politi, Keren, Arbogast, Lydia A, Collard, Michael W, Huggenvik, Jodi I, Elsea, Sarah H, Jensik, Philip J

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RNA analysis of intronic variants in the LAMA2 gene detected by whole genome sequencing confirms a rare dual diagnosis of incontinentia pigmenti with limb‐girdle muscular dystrophy... von Washington, Camerun, Stolerman, Elliot S., Cooley‐Coleman, Jessica A., Jones, Julie R., Chen‐Deutsch, Xiangwen

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RNA analysis of the GALNS transcript reveals novel pathogenic mechanisms associated with Morquio syndrome A von Sohn, Young Bae, Rogers, Curtis, Stallworth, Jennifer, Cooley Coleman, Jessica A., Buch, Laura, Jozwiak, Erin, Johnson, Jo Ann, Wood, Tim, Harmatz, Paul, Pollard, Laura, Louie, Raymond J.

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Eat4Genes: a bioinformatic rational gene targeting app and prototype model for improving human health von Ford, Morgan L, Cooley, Jessica M, Sripada, Veda, Xu, Zhengwen, Erickson, John S, Bennett, Kristin P, Crawford, Dana R

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P727: Rare disease diagnostics using RNA-Seq: How an investigational transcriptomic test helped conclude a 12-Year diagnostic odyssey von Coleman, Jessica Cooley, Kandhadai, Adithya, Clinemyer, Christa, Fee, Timothy, Hilton, Benjamin, DuPont, Barbara, Lyons, Michael, Stevenson, Roger, Friez, Michael

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P664: Functional genomic studies resolve an OTUD6B deep intronic variant causing isoform imbalance von Coleman, Jessica Cooley, Mokashi, Sneha, Kandhadai, Adithya, Rose, Aubrey, Steet, Richard, Louie, Raymond, Lyons, Michael, Abidi, Fatima

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Tremors: A concept analysis von Cooley Coleman, Jessica A., Sarasua, Sara M., Boccuto, Luigi, Moore, Hannah W., Skinner, Steven A., DeLuca, Jane M.

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Clinical findings from the landmark MEF2C‐related disorders natural history study von Cooley Coleman, Jessica A., Sarasua, Sara M., Moore, Hannah Warren, Boccuto, Luigi, Cowan, Christopher W., Skinner, Steven A., DeLuca, Jane M.

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P569: Identification of a novel, deep-intronic alteration in KDM6A: How a multi-omics approach ended a 10+ year diagnostic odyssey von Tedder, Matthew, Coleman, Jessica Cooley, Childers, Anna, Kerkhof, Jennifer, Louie, Raymond, Lee, Jennifer, Friez, Michael, Sadikovic, Bekim, Everman, David, Rogers, Richard, Caylor, Raymond

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Comprehensive investigation of the phenotype of MEF2C‐related disorders in human patients: A systematic review von Cooley Coleman, Jessica A., Sarasua, Sara M., Boccuto, Luigi, Moore, Hannah Warren, Skinner, Steven A., DeLuca, Jane M.

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Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth spectrum disorders von Cooley Coleman, Jessica A, Gass, Jennifer M, Srikanth, Sujata, Pauly, Rini, Ziats, Catherine A, Everman, David B, Skinner, Steven A, Bell, Shannon, Louie, Raymond J, Cascio, Lauren, Patterson, Wesley G, Jones, Julie R, Di Donato, Nataliya, Stevenson, Roger E, Boccuto, Luigi

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Author Correction: MEF2C regulates NK cell effector functions through control of lipid metabolism von Li, Joey H., Zhou, Adalia, Lee, Cassidy D., Shah, Siya N., Ji, Jeong Hyun, Senthilkumar, Vignesh, Padilla, Eddie T., Ball, Andréa B., Feng, Qinyan, Bustillos, Christian G., Riggan, Luke, Greige, Alain, Divakaruni, Ajit S., Annese, Fran, Coleman, Jessica A. Cooley, Skinner, Steven A., Cowan, Christopher W., O’Sullivan, Timothy E.

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Patterns of neutrophil serine protease-dependent cleavage of surfactant protein D in inflammatory lung disease von Cooley, Jessica, McDonald, Barbara, Accurso, Frank J., Crouch, Erika C., Remold‐O'Donnell, Eileen

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Effects of cell packing on chemoattractant distribution within a tissue von Mekus, Zachary, Cooley, Jessica, George, Aaron, Sabo, Victoria, Strzegowski, Morgan, Starz-Gaiano, Michelle, E. Peercy, Bradford

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Neutrophil Serine Proteinases Inactivate Surfactant Protein D by Cleaving within a Conserved Subregion of the Carbohydrate Recognition Domain von Hirche, Tim O., Crouch, Erika C., Espinola, Marcia, Brokelman, Thomas J., Mecham, Robert P., DeSilva, Nihal, Cooley, Jessica, Remold-O'Donnell, Eileen, Belaaouaj, Abderrazzaq

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Disability Art, Aesthetics, and Access: Creating Exhibitions in a Liberal Arts Setting von Cooley, Jessica, Fox, Ann M.

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