Novel compound heterozygote variants: c.4193_4206delinsG (p.Leu1398Argfs25), c.793C > A (p.Pro265Thr), in the CPS1 gene (NM_001875.4) causing late onset carbamoyl phosphate synthet... by Lin, Hsin-Ti, Enchautegui-Colon, Yazmin, Huang, Yu-Ren, Zimmerman, Chelsea, DeMarzo, Danielle, Tsai, Anne Chun-Hui

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Phenotypic manifestations of copy number variation in chromosome 16p13.11 by SREENATH NAGAMANI, Sandesh C, EREZ, Ayelet, MALPHRUS, Amy D, ENG, Patricia A, HIXSON, Patricia M, KANG, Sung-Hae L, STANKIEWICZ, Pawel, PATEL, Ankita, SAU WAI CHEUNG, BADER, Patricia, LALANI, Seema R, SCOTT, Daryl A, SCAGLIA, Fernando, PLON, Sharon E, TSAI, Chun-Hui, REIMSCHISEL, Tyler, ROEDER, Elizabeth

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Phenotypic spectrum and genotype―phenotype correlations of NRXN1 exon deletions by SCHAAF, Christian P, BOONE, Philip M, TARTAGLIA, Nicole R, EVANS, Patricia, CAMPBELL, William M, TSAI, Anne Chun-Hui, PARSLEY, Lea, GRAYSON, Stephanie W, SCHEUERLE, Angela, LUZZI, Carol D, THOMAS, Sandra K, ENG, Patricia A, SAMPATH, Srirangan, KANG, Sung-Hae L, PATEL, Ankita, STANKIEWICZ, Pawel, CHEUNG, Sau W, WILLIAMS, Charles, BADER, Patricia I, MUELLER, Jennifer M, SHCHELOCHKOV, Oleg A, BROWN, Chester W, CRAWFORD, Heather P, PHALEN, James A

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Chinese hamster ovary cell-derived recombinant human acid α-glucosidase in infantile-onset Pompe disease by Kishnani, Priya Sunil, Nicolino, Marc, Voit, Thomas, Rogers, R. Curtis, Tsai, Anne Chun-Hui, Waterson, John, Herman, Gail E., Amalfitano, Andreas, Thurberg, Beth L., Richards, Susan, Davison, Mark, Corzo, Deyanira, Chen, Y.T.

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The Influence of Flow Experience and Serious Leisure on Attachment in Board Game by Shen, Ching-Cheng, Tsai, Chun-Hui, Tseng, Tzuhui Angie

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Disruption of the SCN2A and SCN3A genes in a patient with mental retardation, neurobehavioral and psychiatric abnormalities, and a history of infantile seizures by Bartnik, M, Chun-Hui Tsai, A, Xia, Z, Cheung, SW, Stankiewicz, P

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Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology by Sobering, Andrew K., Bryant, Laura M., Li, Dong, McGaughran, Julie, Maystadt, Isabelle, Moortgat, Stephanie, Graham, John M., van Haeringen, Arie, Ruivenkamp, Claudia, Cuperus, Roos, Vogt, Julie, Morton, Jenny, Brasch-Andersen, Charlotte, Steenhof, Maria, Hansen, Lars Kjærsgaard, Adler, Élodie, Lyonnet, Stanislas, Pingault, Veronique, Sandrine, Marlin, Ziegler, Alban, Donald, Tyhiesia, Nelson, Beverly, Holt, Brandon, Petryna, Oleksandra, Firth, Helen, McWalter, Kirsty, Zyskind, Jacob, Telegrafi, Aida, Juusola, Jane, Person, Richard, Bamshad, Michael J., Earl, Dawn, Chun-Hui Tsai, Anne, Yearwood, Katherine R., Marco, Elysa, Nowak, Catherine, Douglas, Jessica, Hakonarson, Hakon, Bhoj, Elizabeth J.

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Compound heterozygote variants: c.848A > G; p.Glu283Gly and c.890C > T; p.Ala297Val, of Isovaleric acid-CoA dehydrogenase (IVD) gene causing severe Isovaleric acidemia with hyperam... by Tsai, Anne Chun-Hui, Lin, Hsin-Ti, Chou, Maxwell, Bolen, Jessica, Zimmerman, Chelsea, DeMarzo, Danielle, Enchautegui-Colon, Yazmin

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The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes by Curry, Cynthia J., Rosenfeld, Jill A., Grant, Erica, Gripp, Karen W., Anderson, Carol, Aylsworth, Arthur S., Saad, Taha Ben, Chizhikov, Victor V., Dybose, Giedre, Fagerberg, Christina, Falco, Michelle, Fels, Christina, Fichera, Marco, Graakjaer, Jesper, Greco, Donatella, Hair, Jennifer, Hopkins, Elizabeth, Huggins, Marlene, Ladda, Roger, Li, Chumei, Moeschler, John, Nowaczyk, Malgorzata J.M., Ozmore, Jillian R., Reitano, Santina, Romano, Corrado, Roos, Laura, Schnur, Rhonda E., Sell, Susan, Suwannarat, Pim, Svaneby, Dea, Szybowska, Marta, Tarnopolsky, Mark, Tervo, Raymond, Tsai, Anne Chun-Hui, Tucker, Megan, Vallee, Stephanie, Wheeler, Ferrin C, Zand, Dina J., Barkovich, A. James, Aradhya, Swaroop, Shaffer, Lisa G., Dobyns, William B.

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Somatic and germ-line mosaicism in Rubinstein-Taybi syndrome by Chiang, Pei-Wen, Lee, Ni-Chung, Chien, Nancy, Hwu, Wuh-Liang, Spector, Elaine, Tsai, Anne Chun-Hui

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Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing by Wiszniewska, Joanna, Bi, Weimin, Shaw, Chad, Stankiewicz, Pawel, Kang, Sung-Hae L, Pursley, Amber N, Lalani, Seema, Hixson, Patricia, Gambin, Tomasz, Tsai, Chun-hui, Bock, Hans-Georg, Descartes, Maria, Probst, Frank J, Scaglia, Fernando, Beaudet, Arthur L, Lupski, James R, Eng, Christine, Cheung, Sau Wai, Bacino, Carlos, Patel, Ankita

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Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology by Sobering, Andrew K., Bryant, Laura M., Li, Dong, McGaughran, Julie, Maystadt, Isabelle, Moortgat, Stephanie, Graham, John M., van Haeringen, Arie, Ruivenkamp, Claudia, Cuperus, Roos, Vogt, Julie, Morton, Jenny, Brasch-Andersen, Charlotte, Steenhof, Maria, Hansen, Lars Kjærsgaard, Adler, Élodie, Lyonnet, Stanislas, Pingault, Veronique, Sandrine, Marlin, Ziegler, Alban, Donald, Tyhiesia, Nelson, Beverly, Holt, Brandon, Petryna, Oleksandra, Firth, Helen, McWalter, Kirsty, Zyskind, Jacob, Telegrafi, Aida, Juusola, Jane, Person, Richard, Bamshad, Michael J., Earl, Dawn, Tsai, Anne Chun-Hui, Yearwood, Katherine R., Marco, Elysa, Nowak, Catherine, Douglas, Jessica, Hakonarson, Hakon, Bhoj, Elizabeth J.

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Next generation deep sequencing corrects diagnostic pitfalls of traditional molecular approach in a patient with prenatal onset of Pompe disease by Tsai, Anne Chun‐Hui, Hung, Yu‐Wen, Harding, Cary, Koeller, David M., Wang, Jing, Wong, Lee‐Jun C.

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Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway by Karolak, Justyna A., Vincent, Marie, Deutsch, Gail, Gambin, Tomasz, Cogné, Benjamin, Pichon, Olivier, Vetrini, Francesco, Mefford, Heather C., Dines, Jennifer N., Golden-Grant, Katie, Dipple, Katrina, Freed, Amanda S., Leppig, Kathleen A., Dishop, Megan, Mowat, David, Bennetts, Bruce, Gifford, Andrew J., Weber, Martin A., Lee, Anna F., Boerkoel, Cornelius F., Bartell, Tina M., Ward-Melver, Catherine, Besnard, Thomas, Petit, Florence, Bache, Iben, Tümer, Zeynep, Denis-Musquer, Marie, Joubert, Madeleine, Martinovic, Jelena, Bénéteau, Claire, Molin, Arnaud, Carles, Dominique, André, Gwenaelle, Bieth, Eric, Chassaing, Nicolas, Devisme, Louise, Chalabreysse, Lara, Pasquier, Laurent, Secq, Véronique, Don, Massimiliano, Orsaria, Maria, Missirian, Chantal, Mortreux, Jérémie, Sanlaville, Damien, Pons, Linda, Küry, Sébastien, Bézieau, Stéphane, Liet, Jean-Michel, Joram, Nicolas, Bihouée, Tiphaine, Scott, Daryl A., Brown, Chester W., Scaglia, Fernando, Tsai, Anne Chun-Hui, Grange, Dorothy K., Phillips, John A., Pfotenhauer, Jean P., Jhangiani, Shalini N., Gonzaga-Jauregui, Claudia G., Chung, Wendy K., Schauer, Galen M., Lipson, Mark H., Mercer, Catherine L., van Haeringen, Arie, Liu, Qian, Popek, Edwina, Coban Akdemir, Zeynep H., Lupski, James R., Szafranski, Przemyslaw, Isidor, Bertrand, Le Caignec, Cedric, Stankiewicz, Paweł

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Identical twin sisters with Rubinstein–Taybi syndrome associated with Chiari malformations and syrinx by Parsley, Lea, Bellus, Gary, Handler, Michael, Tsai, Anne Chun‐Hui

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Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability by Malinowski, Jennifer, Miller, David T, Demmer, Laurie, Gannon, Jennifer, Pereira, Elaine Maria, Schroeder, Molly C, Scheuner, Maren T, Tsai, Anne Chun-Hui, Hickey, Scott E, Shen, Jun

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NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism by Guo, Hui, Zhang, Qiumeng, Dai, Rujia, Yu, Bin, Hoekzema, Kendra, Tan, Jieqiong, Tan, Senwei, Jia, Xiangbin, Chung, Wendy K, Hernan, Rebecca, Alkuraya, Fowzan S, Alsulaiman, Ahood, Al-Muhaizea, Mohammad A, Lesca, Gaetan, Pons, Linda, Labalme, Audrey, Laux, Linda, Bryant, Emily, Brown, Natasha J, Savva, Elena, Ayres, Samantha, Eratne, Dhamidhu, Peeters, Hilde, Bilan, Frédéric, Letienne-Cejudo, Lucile, Gilbert-Dussardier, Brigitte, Ruiz-Arana, Inge-Lore, Merlini, Jenny Meylan, Boizot, Alexia, Bartoloni, Lucia, Santoni, Federico, Karlowicz, Danielle, McDonald, Marie, Wu, Huidan, Hu, Zhengmao, Chen, Guodong, Ou, Jianjun, Brasch-Andersen, Charlotte, Fagerberg, Christina R, Dreyer, Inken, Chun-Hui Tsai, Anne, Slegesky, Valerie, McGee, Rose B, Daniels, Brina, Sellars, Elizabeth A, Carpenter, Lori A, Schaefer, Bradley, Sacoto, Maria J Guillen, Begtrup, Amber, Schnur, Rhonda E, Punj, Sumit, Wentzensen, Ingrid M, Rhodes, Lindsay, Pan, Qian, Bernier, Raphael A, Chen, Chao, Eichler, Evan E, Xia, Kun

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Circulating and Tissue Forms of the Intestinal Growth Factor, Glucagon-Like Peptide-2 by Brubaker, Patricia L., Crivici, Anna, Izzo, Angelo, Ehrlich, Peter, Tsai, Chun-Hui, Drucker, Daniel J.

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Multiexposure image fusion using intensity enhancement and detail extraction by Tsai, Hui-Chun, Lin, Hui-Jing, Leou, Jin-Jang

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Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders by Fischer-Zirnsak, Björn, Segebrecht, Lara, Schubach, Max, Charles, Perrine, Alderman, Emily, Brown, Kathleen, Cadieux-Dion, Maxime, Cartwright, Tracy, Chen, Yanmin, Costin, Carrie, Fehr, Sarah, Fitzgerald, Keely M., Fleming, Emily, Foss, Kimberly, Ha, Thoa, Hildebrand, Gabriele, Horn, Denise, Liu, Shuxi, Marco, Elysa J., McDonald, Marie, McWalter, Kirsty, Race, Simone, Rush, Eric T., Si, Yue, Saunders, Carol, Slavotinek, Anne, Stockler-Ipsiroglu, Sylvia, Telegrafi, Aida, Thiffault, Isabelle, Torti, Erin, Tsai, Anne Chun-hui, Wang, Xin, Zafar, Muhammad, Keren, Boris, Kornak, Uwe, Boerkoel, Cornelius F., Mirzaa, Ghayda, Ehmke, Nadja

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