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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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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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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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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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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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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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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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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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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Response to "How Exhaustive Are Reviews in Research Review Articles?"
Tsai, Anne C.-H., Johnson, John P.
Published in American journal of medical genetics. Part A (01.06.2007)
Published in American journal of medical genetics. Part A (01.06.2007)
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Revisiting recombinant 8 syndrome
Pickler, Laura, Wilson, Rebecca, Tsai, Anne C-H
Published in American journal of medical genetics. Part A (01.08.2011)
Published in American journal of medical genetics. Part A (01.08.2011)
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