Sequencing newly replicated DNA reveals widespread plasticity in human replication timing von Hansen, R. Scott, Thomas, Sean, Sandstrom, Richard, Canfield, Theresa K, Thurman, Robert E, Weaver, Molly, Dorschner, Michael O, Gartler, Stanley M, Stamatoyannopoulos, John A

Volltext

Genome-scale mapping of DNase I sensitivity in vivo using tiling DNA microarrays von Stamatoyannopoulos, John A, Sabo, Peter J, Kuehn, Michael S, Thurman, Robert, Johnson, Brett E, Johnson, Ericka M, Cao, Hua, Yu, Man, Rosenzweig, Elizabeth, Goldy, Jeff, Haydock, Andrew, Weaver, Molly, Shafer, Anthony, Lee, Kristin, Neri, Fidencio, Humbert, Richard, Singer, Michael A, Richmond, Todd A, Dorschner, Michael O, McArthur, Michael, Hawrylycz, Michael, Green, Roland D, Navas, Patrick A, Noble, William S

Volltext

Somatic PDGFRB Activating Variants in Fusiform Cerebral Aneurysms von Karasozen, Yigit, Osbun, Joshua W., Parada, Carolina Angelica, Busald, Tina, Tatman, Philip, Gonzalez-Cuyar, Luis F., Hale, Christopher J., Alcantara, Diana, O’Driscoll, Mark, Dobyns, William B., Murray, Mitzi, Kim, Louis J., Byers, Peter, Dorschner, Michael O., Ferreira, Manuel

Volltext

Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory von Punj, Sumit, Akkari, Yassmine, Huang, Jennifer, Yang, Fei, Creason, Allison, Pak, Christine, Potter, Amiee, Dorschner, Michael O., Nickerson, Deborah A., Robertson, Peggy D., Jarvik, Gail P., Amendola, Laura M., Schleit, Jennifer, Simpson, Dana Kostiner, Rope, Alan F., Reiss, Jacob, Kauffman, Tia, Gilmore, Marian J., Himes, Patricia, Wilfond, Benjamin, Goddard, Katrina A.B., Richards, C. Sue

Volltext

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.

Volltext

Oct4 dependence of chromatin structure within the extended Nanog locus in ES cells von Levasseur, Dana N, Wang, Jianlong, Dorschner, Michael O, Stamatoyannopoulos, John A, Orkin, Stuart H

Volltext

The RAB39B p.G192R mutation causes X-linked dominant Parkinson's disease von Mata, Ignacio F, Jang, Yongwoo, Kim, Chun-Hyung, Hanna, David S, Dorschner, Michael O, Samii, Ali, Agarwal, Pinky, Roberts, John W, Klepitskaya, Olga, Shprecher, David R, Chung, Kathryn A, Factor, Stewart A, Espay, Alberto J, Revilla, Fredy J, Higgins, Donald S, Litvan, Irene, Leverenz, James B, Yearout, Dora, Inca-Martinez, Miguel, Martinez, Erica, Thompson, Tiffany R, Cholerton, Brenna A, Hu, Shu-Ching, Edwards, Karen L, Kim, Kwang-Soo, Zabetian, Cyrus P

Volltext

Somatic Mosaicism of a PDGFRB Activating Variant in Aneurysms of the Intracranial, Coronary, Aortic, and Radial Artery Vascular Beds von Parada, Carolina A, El-Ghazali, Fatima M, Toglia, Daphne, Ruzevick, Jacob, McAvoy, Malia, Emerson, Samuel, Karasozen, Yigit, Busald, Tina, Nazem, Ahmad A, Suranowitz, Shaun M, Shalhub, Sherene, Marshall, Desiree A, Gonzalez-Cuyar, Luis F, Dorschner, Michael O, Ferreira, Jr, Manuel

Volltext

Discovery of Functional Noncoding Elements by Digital Analysis of Chromatin Structure von Sabo, Peter J., Hawrylycz, Michael, Wallace, James C., Humbert, Richard, Yu, Man, Shafer, Anthony, Kawamoto, Janelle, Hall, Robert, Mack, Joshua, Dorschner, Michael O., McArthur, Michael, Stamatoyannopoulos, John A., Gartler, Stanley M.

Volltext

Comprehensive statistical inference of the clonal structure of cancer from multiple biopsies von Liu, Jie, Halloran, John T., Bilmes, Jeffrey A., Daza, Riza M., Lee, Choli, Mahen, Elisabeth M., Prunkard, Donna, Song, Chaozhong, Blau, Sibel, Dorschner, Michael O., Gadi, Vijayakrishna K., Shendure, Jay, Blau, C. Anthony, Noble, William S.

Volltext

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1 von Carvill, Gemma L, Heavin, Sinéad B, Yendle, Simone C, McMahon, Jacinta M, O'Roak, Brian J, Cook, Joseph, Khan, Adiba, Dorschner, Michael O, Weaver, Molly, Calvert, Sophie, Malone, Stephen, Wallace, Geoffrey, Stanley, Thorsten, Bye, Ann M E, Bleasel, Andrew, Howell, Katherine B, Kivity, Sara, Mackay, Mark T, Rodriguez-Casero, Victoria, Webster, Richard, Korczyn, Amos, Afawi, Zaid, Zelnick, Nathanel, Lerman-Sagie, Tally, Lev, Dorit, Møller, Rikke S, Gill, Deepak, Andrade, Danielle M, Freeman, Jeremy L, Sadleir, Lynette G, Shendure, Jay, Berkovic, Samuel F, Scheffer, Ingrid E, Mefford, Heather C

Volltext

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

Volltext

Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate von Cox, Liza L., Cox, Timothy C., Moreno Uribe, Lina M., Zhu, Ying, Richter, Chika T., Nidey, Nichole, Standley, Jennifer M., Deng, Mei, Blue, Elizabeth, Chong, Jessica X., Yang, Yueqin, Carstens, Russ P., Anand, Deepti, Lachke, Salil A., Smith, Joshua D., Dorschner, Michael O., Bedell, Bruce, Kirk, Edwin, Hing, Anne V., Venselaar, Hanka, Valencia-Ramirez, Luz C., Bamshad, Michael J., Glass, Ian A., Cooper, Jonathan A., Haan, Eric, Nickerson, Deborah A., van Bokhoven, Hans, Zhou, Huiqing, Krahn, Katy N., Buckley, Michael F., Murray, Jeffrey C., Lidral, Andrew C., Roscioli, Tony

Volltext

Genetic counseling for early onset and familial dementia: Patient perspectives on exome sequencing von Rolf, Bradley, Blue, Elizabeth E., Bucks, Stephanie, Dorschner, Michael O., Jayadev, Suman

Volltext

Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction von Milev, Miroslav P., Grout, Megan E., Saint-Dic, Djenann, Cheng, Yong-Han Hank, Glass, Ian A., Hale, Christopher J., Hanna, David S., Dorschner, Michael O., Prematilake, Keshika, Shaag, Avraham, Elpeleg, Orly, Sacher, Michael, Doherty, Dan, Edvardson, Simon

Volltext

Guanylate Kinase 1 Deficiency: A Novel and Potentially Treatable Mitochondrial DNA Depletion/Deletions Disease von Hidalgo-Gutierrez, Agustin, Shintaku, Jonathan, Ramon, Javier, Barriocanal-Casado, Eliana, Pesini, Alba, Saneto, Russell P, Garrabou, Gloria, Milisenda, Jose Cesar, Matas-Garcia, Ana, Gort, Laura, Ugarteburu, Olatz, Gu, Yue, Koganti, Lahari, Wang, Tian, Tadesse, Saba, Meneri, Megi, Sciacco, Monica, Wang, Shuang, Tanji, Kurenai, Horwitz, Marshall S, Dorschner, Michael O, Mansukhani, Mahesh, Comi, Giacomo Pietro, Ronchi, Dario, Marti, Ramon, Ribes, Antonia, Tort, Frederic, Hirano, Michio

Volltext

Homozygous CADPS2 Mutations Cause Neurodegenerative Disease with Lewy Body‐like Pathology in Parrots von Lorenzo‐Betancor, Oswaldo, Galosi, Livio, Bonfili, Laura, Eleuteri, Anna Maria, Cecarini, Valentina, Verin, Ranieri, Dini, Fabrizio, Attili, Anna‐Rita, Berardi, Sara, Biagini, Lucia, Robino, Patrizia, Stella, Maria Cristina, Yearout, Dora, Dorschner, Michael O., Tsuang, Debby W., Rossi, Giacomo, Zabetian, Cyrus P.

Volltext

LMX1B-Associated Nephropathy With Type III Collagen Deposition in the Glomerular and Tubular Basement Membranes von Andeen, Nicole K., Schleit, Jennifer, Blosser, Christopher D., Dorschner, Michael O., Hisama, Fuki Marie, Smith, Kelly D.

Volltext

Comprehensive epigenetic profiling identifies multiple distal regulatory elements directing transcription of the gene encoding interferon-γ von Sekimata, Masayuki, Wilson, Christopher B, Schoenborn, Jamie R, Shnyreva, Maria, Stamatoyannopoulos, John A, Dorschner, Michael O, Fitzpatrick, David R, Santer, Deanna M

Volltext

An accessible, relational, inclusive, and actionable (ARIA) model of genetic counseling compared with usual care: Results of a randomized controlled trial von Joseph, Galen, Leo, Michael C., Riddle, Leslie, Guerra, Claudia, Amendola, Laura M., Gilmore, Marian J., Rolf, Bradley A., Dorschner, Michael O., Zepp, Jamilyn, Biesecker, Barbara B., Caruncho, Mikaella, Hunter, Jessica Ezzell, Keast, Erin, Lewis, Hannah S., Duenas, Devan, Kauffman, Tia, Bulkley, Joanna E., Anderson, Katherine P., Jarvik, Gail P., Goddard, Katrina A.B., Wilfond, Benjamin S.

Volltext