Detection of clinically relevant exonic copy-number changes by array CGH
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
Published in Human mutation (01.12.2010)
Published in Human mutation (01.12.2010)
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Roles of sigma-1 receptors on mitochondrial functions relevant to neurodegenerative diseases
Weng, Tzu-Yu, Tsai, Shang-Yi Anne, Su, Tsung-Ping
Published in Journal of biomedical science (16.09.2017)
Published in Journal of biomedical science (16.09.2017)
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A Novel Approach to Dysmorphology to Enhance the Phenotypic Classification of Autism Spectrum Disorder in the Study to Explore Early Development
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.
Published in Journal of autism and developmental disorders (01.05.2019)
Published in Journal of autism and developmental disorders (01.05.2019)
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De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder
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.
Published in Genetics in medicine (01.03.2020)
Published in Genetics in medicine (01.03.2020)
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Automated syndrome diagnosis by three-dimensional facial imaging
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.
Published in Genetics in medicine (01.10.2020)
Published in Genetics in medicine (01.10.2020)
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Mutations in the RNA Granule Component TDRD7 Cause Cataract and Glaucoma
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.
Published in Science (American Association for the Advancement of Science) (25.03.2011)
Published in Science (American Association for the Advancement of Science) (25.03.2011)
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Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability
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
Published in Genetics in medicine (01.06.2020)
Published in Genetics in medicine (01.06.2020)
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The different facets of “culture” in genetic counseling: A situated analysis of genetic counseling in Hong Kong
Zayts, Olga, Shipman, Hannah, Fung, Jasmine L.‐F., Liu, Anthony P.‐Y., Kwok, Sit‐Yee, Tsai, Anne C.‐H., Yung, Tak‐Cheung, Chung, Brian H.‐Y.
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.06.2019)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.06.2019)
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Subtelomeric deletion of chromosome 10p15.3: Clinical findings and molecular cytogenetic characterization
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.
Published in American journal of medical genetics. Part A (01.09.2012)
Published in American journal of medical genetics. Part A (01.09.2012)
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Mapping the Relationship between Dysmorphology and Cognitive, Behavioral, and Developmental Outcomes in Children with Autism Spectrum Disorder
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
Published in Autism research (01.07.2020)
Published in Autism research (01.07.2020)
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Chinese hamster ovary cell-derived recombinant human acid α-glucosidase in infantile-onset Pompe disease
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.
Published in The Journal of pediatrics (01.07.2006)
Published in The Journal of pediatrics (01.07.2006)
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De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas
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
Published in American journal of human genetics (04.06.2020)
Published in American journal of human genetics (04.06.2020)
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Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders
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
Published in American journal of human genetics (05.09.2019)
Published in American journal of human genetics (05.09.2019)
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Characterization of pre- and post-treatment pathology after enzyme replacement therapy for pompe disease
Thurberg, Beth L, Lynch Maloney, Colleen, Vaccaro, Charles, Afonso, Kendra, Tsai, Anne Chun-Hui, Bossen, Edward, Kishnani, Priya S, O'Callaghan, Michael
Published in Laboratory investigation (01.12.2006)
Published in Laboratory investigation (01.12.2006)
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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 synthetase 1 deficiency—Lessons learned
Lin, Hsin-Ti, Enchautegui-Colon, Yazmin, Huang, Yu-Ren, Zimmerman, Chelsea, DeMarzo, Danielle, Tsai, Anne Chun-Hui
Published in Molecular genetics and metabolism reports (01.12.2022)
Published in Molecular genetics and metabolism reports (01.12.2022)
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NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism
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
Published in American journal of human genetics (05.11.2020)
Published in American journal of human genetics (05.11.2020)
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Population genetics analysis of SLC3A1 and SLC7A9 revealed the etiology of cystine stone may be more than what our current genetic knowledge can explain
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.
Published in Urolithiasis (10.08.2023)
Published in Urolithiasis (10.08.2023)
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Next generation deep sequencing corrects diagnostic pitfalls of traditional molecular approach in a patient with prenatal onset of Pompe disease
Tsai, Anne Chun‐Hui, Hung, Yu‐Wen, Harding, Cary, Koeller, David M., Wang, Jing, Wong, Lee‐Jun C.
Published in American journal of medical genetics. Part A (01.09.2017)
Published in American journal of medical genetics. Part A (01.09.2017)
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Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome
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
Published in American journal of human genetics (06.11.2014)
Published in American journal of human genetics (06.11.2014)
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Phenotypic spectrum and genotype―phenotype correlations of NRXN1 exon deletions
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
Published in European journal of human genetics : EJHG (01.12.2012)
Published in European journal of human genetics : EJHG (01.12.2012)
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