Public health. A case study of personalized medicine von Katsanis, S H, Javitt, G, Hudson, K

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A synonymous mutation in TCOF1 causes Treacher Collins syndrome due to mis-splicing of a constitutive exon von Macaya, D., Katsanis, S.H., Hefferon, T.W., Audlin, S., Mendelsohn, N.J., Roggenbuck, J., Cutting, G.R.

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Carrier screening for cystic fibrosis in US genetic testing laboratories: a survey of laboratory directors von Kaufman, DJ, Katsanis, SH, Javitt, GH, Murphy, JA, Scott, JA, Hudson, KL

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A Case Study of Personalized Medicine von Katsanis, S. H., Javitt, G., Hudson, K.

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Synonymous Mutation in TCOF1 Causes Treacher ollins Syndrome Due to Mis-Splicing of a onstitutive Exon von MACAYA, D, KATSANIS, S. H, HEFFERON, T. W, AUDLIN, S, MENDELSOHN, N. J, ROGGENBUCK, J, CUTTING, G. R

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Pedigrees and Perpetrators: Uses of DNA and Genealogy in Forensic Investigations von Katsanis, Sara H

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Genetic variation across the human olfactory receptor repertoire alters odor perception von Trimmer, C., Keller, A., Murphy, N. R., Snyder, L. L., Willer, J. R., Nagai, M. H., Katsanis, N., Vosshall, L. B., Matsunami, H., Mainland, J. D.

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Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights von Gusev, Alexander, Mancuso, Nicholas, Won, Hyejung, Kousi, Maria, Finucane, Hilary K., Reshef, Yakir, Song, Lingyun, Safi, Alexias, McCarroll, Steven, Neale, Benjamin M., Ophoff, Roel A., O’Donovan, Michael C., Crawford, Gregory E., Geschwind, Daniel H., Katsanis, Nicholas, Sullivan, Patrick F., Pasaniuc, Bogdan, Price, Alkes L.

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Functional polymorphisms in PRODH are associated with risk and protection for schizophrenia and fronto-striatal structure and function von Kempf, Lucas, Nicodemus, Kristin K, Kolachana, Bhaskar, Vakkalanka, Radhakrishna, Verchinski, Beth A, Egan, Michael F, Straub, Richard E, Mattay, Venkata A, Callicott, Joseph H, Weinberger, Daniel R, Meyer-Lindenberg, Andreas

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Caring for trafficked and unidentified patients in the EHR shadows: Shining a light by sharing the data von Katsanis, Sara H, Huang, Elaine, Young, Amanda, Grant, Victoria, Warner, Elizabeth, Larson, Sharon, Wagner, Jennifer K

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A survey of US public perspectives on facial recognition technology and facial imaging data practices in health and research contexts von Katsanis, Sara H., Claes, Peter, Doerr, Megan, Cook-Deegan, Robert, Tenenbaum, Jessica D., Evans, Barbara J., Lee, Myoung Keun, Anderton, Joel, Weinberg, Seth M., Wagner, Jennifer K.

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Gene expression elucidates functional impact of polygenic risk for schizophrenia von Fromer, Menachem, Roussos, Panos, Sieberts, Solveig K, Johnson, Jessica S, Kavanagh, David H, Perumal, Thanneer M, Ruderfer, Douglas M, Oh, Edwin C, Topol, Aaron, Shah, Hardik R, Klei, Lambertus L, Kramer, Robin, Pinto, Dalila, Gümüş, Zeynep H, Cicek, A Ercument, Dang, Kristen K, Browne, Andrew, Lu, Cong, Xie, Lu, Readhead, Ben, Stahl, Eli A, Xiao, Jianqiu, Parvizi, Mahsa, Hamamsy, Tymor, Fullard, John F, Wang, Ying-Chih, Mahajan, Milind C, Derry, Jonathan M J, Dudley, Joel T, Hemby, Scott E, Logsdon, Benjamin A, Talbot, Konrad, Raj, Towfique, Bennett, David A, De Jager, Philip L, Zhu, Jun, Zhang, Bin, Sullivan, Patrick F, Chess, Andrew, Purcell, Shaun M, Shinobu, Leslie A, Mangravite, Lara M, Toyoshiba, Hiroyoshi, Gur, Raquel E, Hahn, Chang-Gyu, Lewis, David A, Haroutunian, Vahram, Peters, Mette A, Lipska, Barbara K, Buxbaum, Joseph D, Schadt, Eric E, Hirai, Keisuke, Roeder, Kathryn, Brennand, Kristen J, Katsanis, Nicholas, Domenici, Enrico, Devlin, Bernie, Sklar, Pamela

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Letter to the Editor—Context‐specific considerations for development of guidelines for the implementation of rapid DNA von Madden, Diana, Katsanis, Sara H.

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De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias von Helbig, Katherine L., Lauerer, Robert J., Bahr, Jacqueline C., Souza, Ivana A., Uysal, Betül, Gandini, Maria A., Huang, Sun, Keren, Boris, Mignot, Cyril, Billette de Villemeur, Thierry, Nava, Caroline, Valence, Stéphanie, Buratti, Julien, Fagerberg, Christina R., Soerensen, Kristina P., Kamsteeg, Erik-Jan, Koolen, David A., Gunning, Boudewijn, Schelhaas, H. Jurgen, Fox, Jordana, Bakhtiari, Somayeh, Jarrar, Randa, Lindstrom, Kristin, Jin, Sheng Chih, Zeng, Xue, Bilguvar, Kaya, Papavasileiou, Antigone, Xing, Qinghe, Zhu, Changlian, Boysen, Katja, Vairo, Filippo, Klee, Eric W., Tillema, Jan-Mendelt, Payne, Eric T., Cousin, Margot A., Kruisselbrink, Teresa M., Wick, Myra J., Baker, Joshua, Smith, Nicholas, Angrist, Misha, Ashley, Patricia, Bidegain, Margarita, Chambers, Eileen, Cope, Heidi, Cotten, C. Michael, Curington, Theresa, Davis, Erica E., Fisher, Kimberley, French, Amanda, Gallentine, William, Hill, Kevin, Kansagra, Sujay, Katsanis, Sara, Kurtzberg, Joanne, Marcus, Jeffrey, McDonald, Marie, Mikati, Mohammed, Miller, Stephen, Murtha, Amy, Perilla, Yezmin, Pizoli, Carolyn, Ross, Sherry, Sadeghpour, Azita, Smith, Edward, Wiener, John, Corbett, Mark A., Goldmann, Eva, Kichula, Elizabeth, Segal, Eric, Jackson, Kelly E., Asamoah, Alexander, McCarrier, Julie, Botto, Lorenzo D., Tvrdik, Tatiana, Cascino, Gregory D., Klingerman, Sherry, Neumann, Catherine, Nolan, Melinda A., Snell, Russell G., Lehnert, Klaus, Sadleir, Lynette G., Kvarnung, Malin, Guerrini, Renzo, Friez, Michael J., Lyons, Michael J., Leonhard, Jennifer, Kringlen, Gabriel, El Achkar, Christelle M., Smith, Lacey A., Carss, Keren J., Rankin, Julia, Zeman, Adam, Blyth, Moira, Kerr, Bronwyn, Ruiz, Karla, Urquhart, Jill, Banka, Siddharth, Scheffer, Ingrid E., Zamponi, Gerald W., Mefford, Heather C.

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Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability von Reijnders, M. R. F., Kousi, M., van Woerden, G. M., Klein, M., Bralten, J., Mancini, G. M. S., van Essen, T., Proietti-Onori, M., Smeets, E. E. J., van Gastel, M., Stegmann, A. P. A., Stevens, S. J. C., Lelieveld, S. H., Gilissen, C., Pfundt, R., Tan, P. L., Kleefstra, T., Franke, B., Elgersma, Y., Katsanis, N., Brunner, H. G.

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Ethical Guidelines for DNA Testing in Migrant Family Reunification von Farahany, Nita, Chodavadia, Saheel, Katsanis, Sara H.

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KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant von Golzio, Christelle, Willer, Jason, Talkowski, Michael E., Oh, Edwin C., Taniguchi, Yu, Jacquemont, Sébastien, Reymond, Alexandre, Sun, Mei, Sawa, Akira, Gusella, James F., Kamiya, Atsushi, Beckmann, Jacques S., Katsanis, Nicholas

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SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder von Del Dotto, Valentina, Ullah, Farid, Di Meo, Ivano, Magini, Pamela, Gusic, Mirjana, Maresca, Alessandra, Caporali, Leonardo, Palombo, Flavia, Tagliavini, Francesca, Baugh, Evan Harris, Macao, Bertil, Szilagyi, Zsolt, Peron, Camille, Gustafson, Margaret A., Khan, Kamal, La Morgia, Chiara, Barboni, Piero, Carbonelli, Michele, Valentino, Maria Lucia, Liguori, Rocco, Shashi, Vandana, Sullivan, Jennifer, Nagaraj, Shashi, El-Dairi, Mays, Iannaccone, Alessandro, Cutcutache, Ioana, Bertini, Enrico, Carrozzo, Rosalba, Emma, Francesco, Diomedi-Camassei, Francesca, Zanna, Claudia, Armstrong, Martin, Page, Matthew, Stong, Nicholas, Boesch, Sylvia, Kopajtich, Robert, Wortmann, Saskia, Sperl, Wolfgang, Davis, Erica E., Copeland, William C., Seri, Marco, Falkenberg, Maria, Prokisch, Holger, Katsanis, Nicholas, Tiranti, Valeria, Pippucci, Tommaso, Carelli, Valerio

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A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2 von Dietz, Harry C, Loeys, Bart L, Chen, Junji, Neptune, Enid R, Judge, Daniel P, Podowski, Megan, Holm, Tammy, Meyers, Jennifer, Leitch, Carmen C, Katsanis, Nicholas, Sharifi, Neda, Xu, F Lauren, Myers, Loretha A, Spevak, Philip J, Cameron, Duke E, Backer, Julie De, Hellemans, Jan, Chen, Yan, Davis, Elaine C, Webb, Catherine L, Kress, Wolfram, Coucke, Paul, Rifkin, Daniel B, De Paepe, Anne M

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Ethical considerations for DNA testing as a proxy for nationality von Oray, Valedie, Katsanis, Sara H.

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