Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L von Chen, Dong-Hui, Below, Jennifer E., Shimamura, Akiko, Keel, Sioban B., Matsushita, Mark, Wolff, John, Sul, Youngmee, Bonkowski, Emily, Castella, Maria, Taniguchi, Toshiyasu, Nickerson, Deborah, Papayannopoulou, Thalia, Bird, Thomas D., Raskind, Wendy H.

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Relative burden of large CNVs on a range of neurodevelopmental phenotypes von Girirajan, Santhosh, Brkanac, Zoran, Coe, Bradley P, Baker, Carl, Vives, Laura, Vu, Tiffany H, Shafer, Neil, Bernier, Raphael, Ferrero, Giovanni B, Silengo, Margherita, Warren, Stephen T, Moreno, Carlos S, Fichera, Marco, Romano, Corrado, Raskind, Wendy H, Eichler, Evan E

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Effect of simvastatin on CSF Alzheimer disease biomarkers in cognitively normal adults von Li, Ge, Mayer, Cynthia L, Morelli, Daniel, Millard, Steven P, Raskind, Wendy H, Petrie, Eric C, Cherrier, Monique, Fagan, Anne M, Raskind, Murray A, Peskind, Elaine R

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Triggering Receptor Expressed on Myeloid Cell 2 R47H Exacerbates Immune Response in Alzheimer's Disease Brain von Korvatska, Olena, Kiianitsa, Kostantin, Ratushny, Alexander, Matsushita, Mark, Beeman, Neal, Chien, Wei-Ming, Satoh, Jun-Ichi, Dorschner, Michael O, Keene, C Dirk, Bammler, Theo K, Bird, Thomas D, Raskind, Wendy H

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ADCY5–Related Dyskinesia: Improving Clinical Detection of an Evolving Disorder von Vijiaratnam, Nirosen, Bhatia, Kailash P., Lang, Anthony E., Raskind, Wendy H., Espay, Alberto J.

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Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech von Peter, Beate, Wijsman, Ellen M, Nato, Jr, Alejandro Q, Matsushita, Mark M, Chapman, Kathy L, Stanaway, Ian B, Wolff, John, Oda, Kaori, Gabo, Virginia B, Raskind, Wendy H

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Caspase-8, association with Alzheimer's Disease and functional analysis of rare variants von Rehker, Jan, Rodhe, Johanna, Nesbitt, Ryan R, Boyle, Evan A, Martin, Beth K, Lord, Jenny, Karaca, Ilker, Naj, Adam, Jessen, Frank, Helisalmi, Seppo, Soininen, Hilkka, Hiltunen, Mikko, Ramirez, Alfredo, Scherer, Martin, Farrer, Lindsay A, Haines, Jonathan L, Pericak-Vance, Margaret A, Raskind, Wendy H, Cruchaga, Carlos, Schellenberg, Gerard D, Joseph, Bertrand, Brkanac, Zoran

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Integrative analysis of RUNX1 downstream pathways and target genes von Michaud, Joëlle, Simpson, Ken M, Escher, Robert, Buchet-Poyau, Karine, Beissbarth, Tim, Carmichael, Catherine, Ritchie, Matthew E, Schütz, Frédéric, Cannon, Ping, Liu, Marjorie, Shen, Xiaofeng, Ito, Yoshiaki, Raskind, Wendy H, Horwitz, Marshall S, Osato, Motomi, Turner, David R, Speed, Terence P, Kavallaris, Maria, Smyth, Gordon K, Scott, Hamish S

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Novel TREM2 splicing isoform that lacks the V‐set immunoglobulin domain is abundant in the human brain von Kiianitsa, Kostantin, Kurtz, Irina, Beeman, Neal, Matsushita, Mark, Chien, Wei‐Ming, Raskind, Wendy H., Korvatska, Olena

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Pancreatic intraductal papillary mucinous neoplasm in a patient with Lynch syndrome von Flanagan, Meghan R, Jayaraj, Arjun, Xiong, Wei, Yeh, Matthew M, Raskind, Wendy H, Pillarisetty, Venu G

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The effect of algorithms on copy number variant detection von Tsuang, Debby W, Millard, Steven P, Ely, Benjamin, Chi, Peter, Wang, Kenneth, Raskind, Wendy H, Kim, Sulgi, Brkanac, Zoran, Yu, Chang-En

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TREM2 variants that cause early dementia and increase Alzheimer's disease risk affect gene splicing von Kiianitsa, Kostantin, Lukes, Maria E, Hayes, Brian J, Brutman, Julianna N, Valdmanis, Paul N, Bird, Thomas D, Raskind, Wendy H, Korvatska, Olena

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IFRD1 Is a Candidate Gene for SMNA on Chromosome 7q22-q23 von Brkanac, Zoran, Spencer, David, Shendure, Jay, Robertson, Peggy D., Matsushita, Mark, Vu, Tiffany, Bird, Thomas D., Olson, Maynard V., Raskind, Wendy H.

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R47H Variant of TREM2 Associated With Alzheimer Disease in a Large Late-Onset Family: Clinical, Genetic, and Neuropathological Study von Korvatska, Olena, Leverenz, James B, Jayadev, Suman, McMillan, Pamela, Kurtz, Irina, Guo, Xindi, Rumbaugh, Malia, Matsushita, Mark, Girirajan, Santhosh, Dorschner, Michael O, Kiianitsa, Kostantin, Yu, Chang-En, Brkanac, Zoran, Garden, Gwenn A, Raskind, Wendy H, Bird, Thomas D

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Actionable exomic incidental findings in 6503 participants: challenges of variant classification von Amendola, Laura M, Dorschner, Michael O, Robertson, Peggy D, Salama, Joseph S, Hart, Ragan, Shirts, Brian H, Murray, Mitzi L, Tokita, Mari J, Gallego, Carlos J, Kim, Daniel Seung, Bennett, James T, Crosslin, David R, Ranchalis, Jane, Jones, Kelly L, Rosenthal, Elisabeth A, Jarvik, Ella R, Itsara, Andy, Turner, Emily H, Herman, Daniel S, Schleit, Jennifer, Burt, Amber, Jamal, Seema M, Abrudan, Jenica L, Johnson, Andrew D, Conlin, Laura K, Dulik, Matthew C, Santani, Avni, Metterville, Danielle R, Kelly, Melissa, Foreman, Ann Katherine M, Lee, Kristy, Taylor, Kent D, Guo, Xiuqing, Crooks, Kristy, Kiedrowski, Lesli A, Raffel, Leslie J, Gordon, Ora, Machini, Kalotina, Desnick, Robert J, Biesecker, Leslie G, Lubitz, Steven A, Mulchandani, Surabhi, Cooper, Greg M, Joffe, Steven, Richards, C Sue, Yang, Yaoping, Rotter, Jerome I, Rich, Stephen S, O'Donnell, Christopher J, Berg, Jonathan S, Spinner, Nancy B, Evans, James P, Fullerton, Stephanie M, Leppig, Kathleen A, Bennett, Robin L, Bird, Thomas, Sybert, Virginia P, Grady, William M, Tabor, Holly K, Kim, Jerry H, Bamshad, Michael J, Wilfond, Benjamin, Motulsky, Arno G, Scott, C Ronald, Pritchard, Colin C, Walsh, Tom D, Burke, Wylie, Raskind, Wendy H, Byers, Peter, Hisama, Fuki M, Rehm, Heidi, Nickerson, Debbie A, Jarvik, Gail P

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Wenckebach Periodicity at Rest That Normalizes With Tachycardia in a Family With a NKX2.5 Mutation von Guntheroth, Warren, MD, Chun, Lani, BS, Patton, Kristen K., MD, Matsushita, Mark M., BS, Page, Richard L., MD, Raskind, Wendy H., MD, PhD

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Defects in lysosomal function and lipid metabolism in human microglia harboring a TREM2 loss of function mutation von Filipello, Fabia, You, Shih-Feng, Mirfakhar, Farzaneh S., Mahali, Sidhartha, Bollman, Bryan, Acquarone, Mariana, Korvatska, Olena, Marsh, Jacob A., Sivaraman, Anirudh, Martinez, Rita, Cantoni, Claudia, De Feo, Luca, Ghezzi, Laura, Minaya, Miguel A., Renganathan, Arun, Cashikar, Anil G., Satoh, Jun-Ichi, Beatty, Wandy, Iyer, Abhirami K., Cella, Marina, Raskind, Wendy H., Piccio, Laura, Karch, Celeste M.

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NOTCH3 C201R variant causes cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) that can be confused with early-onset Alzheimer's d... von Korvatska, Olena, Bucks, Stephanie A., Yoda, Rebecca A., Nolan, Amber, Dorschner, Michael O., Tsuang, Debby, Jayadev, Suman, Raskind, Wendy H., Bird, Thomas D.

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Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects von Rujano, Maria A, Cannata Serio, Magda, Panasyuk, Ganna, Péanne, Romain, Reunert, Janine, Rymen, Daisy, Hauser, Virginie, Park, Julien H, Freisinger, Peter, Souche, Erika, Guida, Maria Clara, Maier, Esther M, Wada, Yoshinao, Jäger, Stefanie, Krogan, Nevan J, Kretz, Oliver, Nobre, Susana, Garcia, Paula, Quelhas, Dulce, Bird, Thomas D, Raskind, Wendy H, Schwake, Michael, Duvet, Sandrine, Foulquier, Francois, Matthijs, Gert, Marquardt, Thorsten, Simons, Matias

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ADCY5 mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias von Friedman, Jennifer R., Méneret, Aurélie, Chen, Dong-Hui, Trouillard, Oriane, Vidailhet, Marie, Raskind, Wendy H., Roze, Emmanuel

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