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Evaluating the association between genetically proxied ACE inhibition and dementias 评估基因代理的ACE抑制与痴呆之间的关联 Nassan, Malik; Daghlas, Iyas; Piras, Ignazio S.; Rogalski, Emily; Reus, Lianne M.; Pijnenburg, Yolande; Cuddy, Leah K.; Saxena, Richa; Mesulam, M-Marsel; Huentelman, Matt 分享 收藏
Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis Frost, F. Graeme; Morimoto, Marie; Sharma, Prashant; Ruaud, Lyse; Belnap, Newell; Calame, Daniel G.; Uchiyama, Yuri; Matsumoto, Naomichi; Oud, Machteld M.; Ferreira, Elise A.; Narayanan, Vinodh; Rangasamy, Sampath; Huentelman, Matt; Emrick, Lisa T.; Sato-Shirai, Ikuko; Kumada, Satoko; Wolf, Nicole I.; Steinbach, Peter J.; Huang, Yan; Pusey, Barbara N.; Passemard, Sandrine; Levy, Jonathan; Drunat, Severine; Vincent, Marie; Guet, Agnes; Agolini, Emanuele; Novelli, Antonio; Digilio, Maria Cristina; Rosenfeld, Jill A.; Murphy, Jennifer L.; Lupski, James R.; Vezina, Gilbert; Macnamara, Ellen F.; Adams, David R.; Acosta, Maria T.; Tifft, Cynthia J.; Gahl, William A.; Malicdan, May Christine V. 分享 收藏
Genome sequencing uncovers molecular cause in a case with epileptic encephalopathy Chandrasekhar, Anjana; Schlachetzki, Zinayida; Coffey, Alison; Fenstermaker, Ali; Wang, Richard; Bluske, Krista; Naymik, Marcus; Rangasamy, Sampath; Bonfitto, Anna; Jepsen, Wayne; Huentelman, Matt; Narayanan, Vinodh; Ramsey, Keri; Kesari, Akanchha; Perry, Denise; Taft, Ryan 分享 收藏
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases De la Vega, Francisco M.; Chowdhury, Shimul; Moore, Barry; Frise, Erwin; McCarthy, Jeanette; Hernandez, Edgar Javier; Wong, Terence; James, Kiely; Guidugli, Lucia; Agrawal, Pankaj B.; Genetti, Casie A.; Brownstein, Catherine A.; Beggs, Alan H.; Loescher, Britt-Sabina; Franke, Andre; Boone, Braden; Levy, Shawn E.; Ounap, Katrin; Pajusalu, Sander; Huentelman, Matt; Ramsey, Keri; Naymik, Marcus; Narayanan, Vinodh; Veeraraghavan, Narayanan; Billings, Paul; Reese, Martin G.; Yandell, Mark; Kingsmore, Stephen F. 分享 收藏
MOBP and HIP1 in multiple system atrophy: New α-synuclein partners in glial cytoplasmic inclusions implicated in the disease pathogenesis Bettencourt, Conceicao; Miki, Yasuo; Piras, Ignazio S.; de Silva, Rohan; Foti, Sandrine C.; Talboom, Joshua S.; Revesz, Tamas; Lashley, Tammaryn; Balazs, Robert; Vire, Emmanuelle; Warner, Thomas T.; Huentelman, Matt J.; Holton, Janice L. 分享 收藏
Interaction Between BDNF Val66Met and APOE4 on Biomarkers of Alzheimer's Disease and Cognitive Decline Stonnington, Cynthia M.; Velgos, Stefanie N.; Chen, Yinghua; Syed, Sameena; Huentelman, Matt; Thiyyagura, Pradeep; Lee, Wendy; Richholt, Ryan; Caselli, Richard J.; Locke, Dona E. C.; Lu, Bai; Reiman, Eric M.; Su, Yi; Chen, Kewei 分享 收藏
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Epigenomics and transcriptomics analyses of multiple system atrophy brain tissue supports a role for inflammatory processes in disease pathogenesis Bettencourt, Conceicao; Piras, Ignazio S.; Foti, Sandrine C.; Talboom, Joshua; Miki, Yasuo; Lashley, Tammaryn; Balazs, Robert; Vire, Emmanuelle; Warner, Thomas T.; Huentelman, Matt J.; Holton, Janice L. 分享 收藏
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Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation Balak, Chris; Benard, Marianne; Schaefer, Elise; Iqbal, Sumaiya; Ramsey, Keri; Ernoult-Lange, Michele; Mattioli, Francesca; Llaci, Lorida; Geoffroy, Veronique; Courel, Maite; Naymik, Marcus; Bachman, Kristine K.; Pfundt, Rolph; Rump, Patrick; ter Beest, Johanna; Wentzensen, Ingrid M.; Monaghan, Kristin G.; McWalter, Kirsty; Richholt, Ryan; Le Bechec, Antony; Jepsen, Wayne; De Both, Matt; Belnap, Newell; Boland, Anne; Piras, Ignazio S.; Deleuze, Jean-Francois; Szelinger, Szabolcs; Dollfus, Helene; Chelly, Jamel; Muller, Jean; Campbell, Arthur; Lal, Dennis; Rangasamy, Sampathkumar; Mandel, Jean-Louis; Narayanan, Vinodh; Huentelman, Matt; Weil, Dominique; Piton, Amelie 分享 收藏
Sex differences in the genetic predictors of Alzheimer's pathology Dumitrescu, Logan; Barnes, Lisa L.; Thambisetty, Madhav; Beecham, Gary; Kunkle, Brian; Bush, William S.; Gifford, Katherine A.; Chibnik, Lori B.; Mukherjee, Shubhabrata; De Jager, Philip L.; Kukull, Walter; Crane, Paul K.; Resnick, Susan M.; Keene, C. Dirk; Montine, Thomas J.; Schellenberg, Gerard D.; Deming, Yuetiva; Chao, Michael J.; Huentelman, Matt; Martin, Eden R.; Hamilton-Nelson, Kara; Shaw, Leslie M.; Trojanowski, John Q.; Peskind, Elaine R.; Cruchaga, Carlos; Pericak-Vance, Margaret A.; Goate, Alison M.; Cox, Nancy J.; Haines, Jonathan L.; Zetterberg, Henrik; Blennow, Kaj; Larson, Eric B.; Johnson, Sterling C.; Albert, Marilyn; Bennett, David A.; Schneider, Julie A.; Jefferson, Angela L.; Hohman, Timothy J. 分享 收藏
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Precision Aging: Applying Precision Medicine to the Field of Cognitive Aging 精准老化: 将精准医学应用于认知老化领域 Ryan, Lee; Hay, Meredith; Huentelman, Matt J.; Duarte, Audrey; Rundek, Tatjana; Levin, Bonnie; Soldan, Anja; Pettigrew, Corinne; Mehl, Matthias R.; Barnes, Carol A. 分享 收藏
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Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis Schrauwen, Isabelle; Valgaeren, Hanne; Tomas-Roca, Laura; Sommen, Manou; Altunoglu, Umut; Wesdorp, Mieke; Beyens, Matthias; Fransen, Erik; Nasir, Abdul; Vandeweyer, Geert; Schepers, Anne; Rahmoun, Malika; van Beusekom, Ellen; Huentelman, Matt J.; Offeciers, Erwin; Dhooghe, Ingeborg; Huber, Alex; Van de Heyning, Paul; Zanetti, Diego; De Leenheer, Els M. R.; Gilissen, Christian; Hoischen, Alexander; Cremers, Cor W.; Verbist, Berit; de Brouwer, Arjan P. M.; Padberg, George W.; Pennings, Ronald; Kayserili, Hulya; Kremer, Hannie; Van Camp, Guy; van Bokhoven, Hans 分享 收藏
Transcriptome-Wide Analysis Identifies ICAM5 Differentially Expressed in Chronic PTSD Symptoms Versus Resiliency Post Trauma Exposure in a Longitudinal Study 在一项纵向研究中，转录组范围的分析确定了ICAM5在慢性PTSD症状中的差异表达与创伤暴露后的弹性 Wingo, Aliza; Daskalakis, Nikolaos; Galatzer-Levy, Isaac; Richholt, Ryan; Michopoulos, Vasiliki; Lori, Adriana; Guffanti, Guia; Rothbaum, Barbara; Jovanovic, Tanja; Myers, Amanda; Huentelman, Matt; Nemeroff, Charles; Ressler, Kerry 分享 收藏
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Recommendations of the Global Multiple System Atrophy Research Roadmap Meeting Walsh, Ryan R.; Krismer, Florian; Galpern, Wendy R.; Wenning, Gregor K.; Low, Phillip A.; Halliday, Glenda; Koroshetz, Walter J.; Holton, Janice; Quinn, Niall P.; Rascol, Olivier; Shaw, Leslie M.; Eidelberg, David; Bower, Pam; Cummings, Jeffrey L.; Abler, Victor; Biedenharn, Judy; Bitan, Gal; Brooks, David J.; Brundin, Patrik; Fernandez, Hubert; Fortier, Philip; Freeman, Roy; Gasser, Thomas; Hewitt, Art; Hoeglinger, Guenter U.; Huentelman, Matt J.; Jensen, Poul H.; Jeromin, Andreas; Kang, Un Jung; Kaufmann, Horacio; Kellerman, Lawrence; Khurana, Vikram; Klockgether, Thomas; Kim, Woojin Scott; Langer, Carol; LeWitt, Peter; Masliah, Eliezer; Meissner, Wassilios; Melki, Ronald; Ostrowitzki, Susanne; Piantadosi, Steven; Poewe, Werner; Robertson, David; Roemer, Cyndi; Schenk, Dale; Schlossmacher, Michael; Schmahmann, Jeremy D.; Seppi, Klaus; Shih, Lily; Siderowf, Andrew; Stebbins, Glenn T.; Stefanova, Nadia; Tsuji, Shoji; Sutton, Sharon; Zhang, Jing 分享 收藏
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