Parental perspectives of episodic irritability in an ultra-rare genetic disorder associated with NACC1 von Schoch, Kelly, McConkie-Rosell, Allyn, Walley, Nicole, Bhambhani, Vikas, Feyma, Timothy, Pizoli, Carolyn E, Smith, Edward C, Tan, Queenie K.-G, Shashi, Vandana

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Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses von Schoch, Kelly, Tan, Queenie K.-G., Stong, Nicholas, Deak, Kristen L., McConkie-Rosell, Allyn, McDonald, Marie T., Goldstein, David B., Jiang, Yong-hui, Shashi, Vandana

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An Arabidopsis F-box protein acts as a transcriptional co-factor to regulate floral development von Chae, Eunyoung, Tan, Queenie K-G, Hill, Theresa A, Irish, Vivian F

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Truncating variants in UBAP1 associated with childhood‐onset nonsyndromic hereditary spastic paraplegia von Gu, Shen, Chen, Chun‐An, Rosenfeld, Jill A., Cope, Heidi, Launay, Nathalie, Flanigan, Kevin M., Waldrop, Megan A., Schrader, Rachel, Juusola, Jane, Goker‐Alpan, Ozlem, Milunsky, Aubrey, Schlüter, Agatha, Troncoso, Mónica, Pujol, Aurora, Tan, Queenie K.‐G., Schaaf, Christian P., Meng, Linyan

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Clinical insights from Wolman disease: Evaluating infantile hepatosplenomegaly von Hannah, William B., Ryan, Katherine, Pendyal, Surekha, Burrow, T. Andrew, Harley, Susan E., Cordell, Miranda, McCall, Chad M., Mavis, Alisha M., Tan, Queenie K.‐G., Kishnani, Priya S.

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A humanized Caenorhabditis elegans model of hereditary spastic paraplegia-associated variants in KLC4 von Gümüşderelioğlu, Selin, Resch, Lauren, Brock, Trisha, Luxton, G. W. Gant, Cope, Heidi, Tan, Queenie K.-G., Hopkins, Christopher, Starr, Daniel A.

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Novel pathogenic variants in FOXP3 in fetuses with echogenic bowel and skin desquamation identified by ultrasound von Louie, Raymond J., Tan, Queenie K.‐G., Gilner, Jennifer B., Rogers, R. Curtis, Younge, Noelle, Wechsler, Stephanie B., McDonald, Marie T., Gordon, Barbara, Saski, Christopher A., Jones, Julie R., Chapman, Shelley J., Stevenson, Roger E., Sleasman, John W., Friez, Michael J.

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Heparin-Binding Motifs and Biofilm Formation by Candida albicans von Green, Julianne V., Orsborn, Kris I., Zhang, Minlu, Tan, Queenie K. G., Greis, Kenneth D., Porollo, Alexey, Andes, David R., Lu, Jason Long, Hostetter, Margaret K.

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Premature Pubarche in Children with Pompe Disease von Tan, Queenie K.-G., MD, PhD, Stockton, David W., MD, Pivnick, Eniko, MD, Choudhri, Asim F., MD, Hines-Dowell, Stacy, DNP, APNG, Pena, Loren D.M., MD, PhD, Deimling, Melissa A., MD, Freemark, Michael S., MD, Kishnani, Priya S., MD

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Arabidopsis Zinc Finger-Homeodomain Genes Encode Proteins with Unique Biochemical Properties That Are Coordinately Expressed during Floral Development von Tan, Queenie K.-G, Irish, Vivian F

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Identification of EPCAM mutation: clinical use of microarray von Tan, Queenie K.‐G., Cardona, Diana M., Rehder, Catherine W., McDonald, Marie T.

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Renal Genetics Clinic: 3-Year Experience in the Cleveland Clinic von Tan, Xin Yee, Borden, Chloe, Roberts, Mary-Beth, Mazzola, Sarah, Tan, Queenie K.-G., Fatica, Richard, Simon, James, Calle, Juan, Taliercio, Jonathan, Dell, Katherine, Provenzano, Laura Ferreira, Deitzer, Diana, Rincon-Choles, Hernan, Mehdi, Ali, Lioudis, Michael, Poggio, Emilio D., Nakhoul, Georges, Nurko, Saul, Ashour, Tarek, Bou Matar, Raed N., Kwon, Charles, Stephany, Brian, Thomas, George, Cheng, Yu-Wei, Leingang, Deanna, Alsadah, Adnan, Maditz, Rhyan, Robert, Heyka, Vachhrajani, Tushar, Sedor, John, Gadegbeku, Crystal, Wang, Xiangling

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Further evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features von Tan, Queenie K-G, Cope, Heidi, Spillmann, Rebecca C, Stong, Nicholas, Jiang, Yong-Hui, McDonald, Marie T, Rothman, Jennifer A, Butler, Megan W, Frush, Donald P, Lachman, Ralph S, Lee, Brendan, Bacino, Carlos A, Bonner, Melanie J, McCall, Chad M, Pendse, Avani A, Walley, Nicole, Shashi, Vandana, Pena, Loren D M

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Regulation of APETALA3 floral homeotic gene expression by meristem identity genes von Lamb, Rebecca S, Hill, Theresa A, Tan, Queenie K-G, Irish, Vivian F

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Low anal sphincter tone in infantile-onset Pompe Disease: An emerging clinical issue in enzyme replacement therapy patients requiring special attention von Tan, Queenie K.-G., Cheah, Sue Mei, Dearmey, Stephanie M., Kishnani, Priya S.

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Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease von Calame, Daniel G., Guo, Tianyu, Wang, Chen, Garrett, Lillian, Jolly, Angad, Dawood, Moez, Kurolap, Alina, Henig, Noa Zunz, Fatih, Jawid M., Herman, Isabella, Du, Haowei, Mitani, Tadahiro, Becker, Lore, Rathkolb, Birgit, Gerlini, Raffaele, Seisenberger, Claudia, Marschall, Susan, Hunter, Jill V., Gerard, Amanda, Heidlebaugh, Alexis, Challman, Thomas, Spillmann, Rebecca C., Jhangiani, Shalini N., Coban-Akdemir, Zeynep, Lalani, Seema, Liu, Lingxiao, Revah-Politi, Anya, Iglesias, Alejandro, Guzman, Edwin, Baugh, Evan, Boddaert, Nathalie, Rondeau, Sophie, Ormieres, Clothide, Barcia, Giulia, Tan, Queenie K.G., Thiffault, Isabelle, Pastinen, Tomi, Sheikh, Kazim, Biliciler, Suur, Mei, Davide, Melani, Federico, Shashi, Vandana, Yaron, Yuval, Steele, Mary, Wakeling, Emma, Østergaard, Elsebet, Nazaryan-Petersen, Lusine, Millan, Francisca, Santiago-Sim, Teresa, Thevenon, Julien, Bruel, Ange-Line, Thauvin-Robinet, Christel, Popp, Denny, Platzer, Konrad, Gawlinski, Pawel, Wiszniewski, Wojciech, Marafi, Dana, Pehlivan, Davut, Posey, Jennifer E., Gibbs, Richard A., Gailus-Durner, Valerie, Guerrini, Renzo, Fuchs, Helmut, Hrabě de Angelis, Martin, Hölter, Sabine M., Cheung, Hoi-Hung, Gu, Shen, Lupski, James R.

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Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort von Lam, Christina, Scaglia, Fernando, Berry, Gerard T., Larson, Austin, Sarafoglou, Kyriakie, Andersson, Hans C., Sklirou, Evgenia, Tan, Queenie K.G., Starosta, Rodrigo T., Sadek, Mustafa, Wolfe, Lynne, Horikoshi, Seishu, Ali, May, Barone, Rita, Campbell, Teresa, Chang, Irene J., Coles, Kiaira, Cook, Edward, Eklund, Erik A., Engelhardt, Nicole M., Freeman, Mary, Friedman, Jennifer, Fu, Debbie Y.T., Botzo, Grace, Rawls, Brandy, Hernandez, Christien, Johnsen, Christin, Keller, Kierstin, Kramer, Sara, Kuschel, Bryce, Leshinski, Angela, Martinez-Duncker, Ivan, Mazza, Gina L., Mercimek-Andrews, Saadet, Miller, Bradley S., Muthusamy, Karthik, Neira, Juanita, Patterson, Marc C., Pogorelc, Natalie, Powers, Lex N., Ramey, Elizabeth, Reinhart, Michaela, Squire, Audrey, Thies, Jenny, Vockley, Jerry, Vreugdenhil, Hayden, Witters, Peter, Youbi, Mehdi, Zeighami, Aziza, Zemet, Roni, Edmondson, Andrew C., Morava, Eva

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Rapid Whole Genome Sequencing in Critically Ill Neonates Enables Precision Medicine Pipeline von Beaman, Makenzie, Fisher, Kimberley, McDonald, Marie, Tan, Queenie K G, Jackson, David, Cocanougher, Benjamin T, Landstrom, Andrew P, Hobbs, Charlotte A, Cotten, Michael, Cohen, Jennifer L

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The importance of managing the patient and not the gene: expanded phenotype of GLE1 -associated arthrogryposis von Tan, Queenie K-G, McConkie-Rosell, Allyn, Juusola, Jane, Gustafson, Kathryn E, Pizoli, Carolyn E, Buckley, Anne F, Jiang, Yong-Hui

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The Arabidopsis Zinc Finger-Homeodomain Genes Encode Proteins with Unique Biochemical Properties That Are Coordinately Expressed during Floral Development1 von Tan, Queenie K-G, Irish, Vivian F

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