Roles of sigma-1 receptors on mitochondrial functions relevant to neurodegenerative diseases von Weng, Tzu-Yu, Tsai, Shang-Yi Anne, Su, Tsung-Ping

Volltext

Detection of clinically relevant exonic copy-number changes by array CGH von Boone, Philip M., Bacino, Carlos A., Shaw, Chad A., Eng, Patricia A., Hixson, Patricia M., Pursley, Amber N., Kang, Sung-Hae L., Yang, Yaping, Wiszniewska, Joanna, Nowakowska, Beata A., del Gaudio, Daniela, Xia, Zhilian, Simpson-Patel, Gayle, Immken, LaDonna L., Gibson, James B., Tsai, Anne C.-H., Bowers, Jennifer A., Reimschisel, Tyler E., Schaaf, Christian P., Potocki, Lorraine, Scaglia, Fernando, Gambin, Tomasz, Sykulski, Maciej, Bartnik, Magdalena, Derwinska, Katarzyna, Wisniowiecka-Kowalnik, Barbara, Lalani, Seema R., Probst, Frank J., Bi, Weimin, Beaudet, Arthur L., Patel, Ankita, Lupski, James R., Cheung, Sau Wai, Stankiewicz, Pawel

Volltext

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder von Mirzaa, Ghayda M., Chong, Jessica X., Piton, Amélie, Popp, Bernt, Foss, Kimberly, Guo, Hui, Harripaul, Ricardo, Xia, Kun, Scheck, Joshua, Aldinger, Kimberly A., Sajan, Samin A., Tang, Sha, Bonneau, Dominique, Beck, Anita, White, Janson, Mahida, Sonal, Harris, Jacqueline, Smith-Hicks, Constance, Hoyer, Juliane, Zweier, Christiane, Reis, André, Thiel, Christian T., Jamra, Rami Abou, Zeid, Natasha, Yang, Amy, Farach, Laura S., Walsh, Laurence, Payne, Katelyn, Rohena, Luis, Velinov, Milen, Ziegler, Alban, Schaefer, Elise, Gatinois, Vincent, Geneviève, David, Simon, Marleen E.H., Kohler, Jennefer, Rotenberg, Joshua, Wheeler, Patricia, Larson, Austin, Ernst, Michelle E., Akman, Cigdem I., Westman, Rachel, Blanchet, Patricia, Schillaci, Lori-Anne, Vincent-Delorme, Catherine, Gripp, Karen W., Mattioli, Francesca, Guyader, Gwenaël Le, Gerard, Bénédicte, Mathieu-Dramard, Michèle, Morin, Gilles, Sasanfar, Roksana, Ayub, Muhammad, Vasli, Nasim, Yang, Sandra, Person, Rick, Monaghan, Kristin G., Nickerson, Deborah A., van Binsbergen, Ellen, Enns, Gregory M., Dries, Annika M., Rowe, Leah J., Tsai, Anne C.H., Svihovec, Shayna, Friedman, Jennifer, Agha, Zehra, Qamar, Raheel, Rodan, Lance H., Martinez-Agosto, Julian, Ockeloen, Charlotte W., Vincent, Marie, Sunderland, William James, Bernstein, Jonathan A., Eichler, Evan E., Vincent, John B., Bamshad, Michael J.

Volltext

A Novel Approach to Dysmorphology to Enhance the Phenotypic Classification of Autism Spectrum Disorder in the Study to Explore Early Development von Shapira, Stuart K., Tian, Lin H., Aylsworth, Arthur S., Elias, Ellen R., Hoover-Fong, Julie E., Meeks, Naomi J. L., Souders, Margaret C., Tsai, Anne C.-H., Zackai, Elaine H., Alexander, Aimee A., Yeargin-Allsopp, Marshalyn, Schieve, Laura A.

Volltext

Mutations in the RNA Granule Component TDRD7 Cause Cataract and Glaucoma von Lachke, Salil A., Alkuraya, Fowzan S., Kneeland, Stephen C., Ohn, Takbum, Aboukhalil, Anton, Howell, Gareth R., Saadi, Irfan, Cavallesco, Resy, Yue, Yingzi, Tsai, Anne C-H., Nair, K. Saidas, Cosma, Mihai I., Smith, Richard S., Hodges, Emily, AlFadhli, Suad M., Al-Hajeri, Amal, Shamseldin, Hanan E., Behbehani, AbdulMutalib, Hannon, Gregory J., Bulyk, Martha L., Drack, Arlene V., Anderson, Paul J., John, Simon W. M., Maas, Richard L.

Volltext

Automated syndrome diagnosis by three-dimensional facial imaging von Hallgrímsson, Benedikt, Aponte, J. David, Katz, David C., Bannister, Jordan J., Riccardi, Sheri L., Mahasuwan, Nick, McInnes, Brenda L., Ferrara, Tracey M., Lipman, Danika M., Neves, Amanda B., Spitzmacher, Jared A.J., Larson, Jacinda R., Bellus, Gary A., Pham, Anh M., Aboujaoude, Elias, Benke, Timothy A., Chatfield, Kathryn C., Davis, Shanlee M., Elias, Ellen R., Enzenauer, Robert W., French, Brooke M., Pickler, Laura L., Shieh, Joseph T.C., Slavotinek, Anne, Harrop, A. Robertson, Innes, A. Micheil, McCandless, Shawn E., McCourt, Emily A., Meeks, Naomi J.L., Tartaglia, Nicole R., Tsai, Anne C.-H., Wyse, J. Patrick H., Bernstein, Jonathan A., Sanchez-Lara, Pedro A., Forkert, Nils D., Bernier, Francois P., Spritz, Richard A., Klein, Ophir D.

Volltext

Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability von 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

Volltext

Mapping the Relationship between Dysmorphology and Cognitive, Behavioral, and Developmental Outcomes in Children with Autism Spectrum Disorder von Tian, Lin H., Wiggins, Lisa D., Schieve, Laura A., Yeargin‐Allsopp, Marshalyn, Dietz, Patricia, Aylsworth, Arthur S., Elias, Ellen R., Hoover‐Fong, Julie E., Meeks, Naomi J. L., Souders, Margaret C., Tsai, Anne C.‐H., Zackai, Elaine H., Alexander, Aimee A., Dowling, Nicole F., Shapira, Stuart K.

Volltext

Subtelomeric deletion of chromosome 10p15.3: Clinical findings and molecular cytogenetic characterization von DeScipio, Cheryl, Conlin, Laura, Rosenfeld, Jill, Tepperberg, James, Pasion, Romela, Patel, Ankita, McDonald, Marie T., Aradhya, Swaroop, Ho, Darlene, Goldstein, Jennifer, McGuire, Marianne, Mulchandani, Surabhi, Medne, Livija, Rupps, Rosemarie, Serrano, Alvaro H., Thorland, Erik C., Tsai, Anne C.-H., Hilhorst-Hofstee, Yvonne, Ruivenkamp, Claudia A.L., Van Esch, Hilde, Addor, Marie-Claude, Martinet, Danielle, Mason, Thornton B.A., Clark, Dinah, Spinner, Nancy B., Krantz, Ian D.

Volltext

Chinese hamster ovary cell-derived recombinant human acid α-glucosidase in infantile-onset Pompe disease von 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.

Volltext

De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas von Tolchin, Dara, Yeager, Jessica P., Prasad, Priya, Dorrani, Naghmeh, Russi, Alvaro Serrano, Martinez-Agosto, Julian A., Haseeb, Abdul, Santen, G.W.E., Ruivenkamp, Claudia, Mercimek-Andrews, Saadet, Depienne, Christel, Kuechler, Alma, Mikat, Barbara, Ludecke, Hermann-Josef, Bilan, Frederic, Le Guyader, Gwenael, Gilbert-Dussardier, Brigitte, Keren, Boris, Heide, Solveig, Haye, Damien, Van Esch, Hilde, Keldermans, Liesbeth, Lancaster, Emily, Krantz, Ian D., Krock, Bryan L., DeChene, Elizabeth T., Melistaccio, Giada, Suri, Mohnish, Foulds, Nicola, Bleda, M., Boardman-Pretty, F., Boissiere, J.M., Boustred, C.R., Caulfield, M.J., Chan, G.C., Craig, C.E.H., Daugherty, L.C., Devereau, A., Elgar, G., Foulger, R.E., Fowler, T., Furió-Tarí, P., Hackett, J.M., Halai, D., Holman, J.E., Hubbard, T.J.P., Lahnstein, L., Lawson, K., Leigh, S.E.A., Leong, I.U.S., Maleady-Crowe, F., Mason, J., McDonagh, E.M., Need, A.C., Odhams, C.A., Perez-Gil, D., Polychronopoulos, D., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Ryten, M., Savage, K., Scott, R.H., Siddiq, A., Sieghart, A., Smedley, D., Smith, K.R., Sosinsky, A., Spooner, W., Stevens, H.E., Stuckey, A., Thomas, E.R.A., Thompson, S.R., Tregidgo, C., Tucci, A., Walsh, E., Welland, M.J., Williams, E., Witkowska, K., Wood, S.M., Zarowiecki, M., Begtrup, Amber, Henderson, Lindsay B., Forster, Cara, Reed, Patrick, McDonald, Marie T., McConkie-Rosell, Allyn, Thevenon, Julien, Le Tanno, Pauline, Coutton, Charles, Stewart, Sarah, Maver, Ales, Gorazd, Rudolf, Pichon, Olivier, Nizon, Mathilde, Cogné, Benjamin, Isidor, Bertrand, Stoeva, Radka, Le Caignec, Cédric

Volltext

Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders von 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

Volltext

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... von Lin, Hsin-Ti, Enchautegui-Colon, Yazmin, Huang, Yu-Ren, Zimmerman, Chelsea, DeMarzo, Danielle, Tsai, Anne Chun-Hui

Volltext

Characterization of pre- and post-treatment pathology after enzyme replacement therapy for pompe disease von Thurberg, Beth L, Lynch Maloney, Colleen, Vaccaro, Charles, Afonso, Kendra, Tsai, Anne Chun-Hui, Bossen, Edward, Kishnani, Priya S, O'Callaghan, Michael

Volltext

NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism von 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, Frederic, 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, Tsai, Anne Chun-hui, 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

Volltext

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

Volltext

Population genetics analysis of SLC3A1 and SLC7A9 revealed the etiology of cystine stone may be more than what our current genetic knowledge can explain von Wu, Chen-Han Wilfred, Badreddine, Jad, Chang, Joshua, Huang, Yu-Ren Mike, Kim, Fernando J., Wild, Trevor, Tsai, Anne Chun-Hui, Meeks, Naomi, Donalisio Da Silva, Rodrigo, Molina, Wilson R., Schumacher, Fredrick R.

Volltext

Phenotypic spectrum and genotype―phenotype correlations of NRXN1 exon deletions von 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

Volltext

Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome von Lalani, Seema R., Zhang, Jing, Schaaf, Christian P., Brown, Chester W., Magoulas, Pilar, Tsai, Anne Chun-Hui, El-Gharbawy, Areeg, Wierenga, Klaas J., Bartholomew, Dennis, Fong, Chin-To, Barbaro-Dieber, Tina, Kukolich, Mary K., Burrage, Lindsay C., Austin, Elise, Keller, Kory, Pastore, Matthew, Fernandez, Fabio, Lotze, Timothy, Wilfong, Angus, Purcarin, Gabriela, Zhu, Wenmiao, Craigen, William J., McGuire, Marianne, Jain, Mahim, Cooney, Erin, Azamian, Mahshid, Bainbridge, Matthew N., Muzny, Donna M., Boerwinkle, Eric, Person, Richard E., Niu, Zhiyv, Eng, Christine M., Lupski, James R., Gibbs, Richard A., Beaudet, Arthur L., Yang, Yaping, Wang, Meng C., Xia, Fan

Volltext

Prevalence of Creatine Deficiency Syndromes in Children With Nonsyndromic Autism von Schulze, Andreas, Bauman, Margaret, Tsai, Anne Chun-Hui, Reynolds, Ann, Roberts, Wendy, Anagnostou, Evdokia, Cameron, Jessie, Nozzolillo, Alixandra A, Chen, Shiyi, Kyriakopoulou, Lianna, Scherer, Stephen W, Loh, Alvin

Volltext