未登录 A rare variant in GPR156 associated with depression in a Mennonite pedigree causes habenula hyperactivity and stress sensitivity in mice 与门诺家族中抑郁症相关的GPR156罕见变异会导致小鼠下丘脑核过度活跃和应激敏感性。 Millera, Bradley R.; Gonzaga-Jaureguic, Claudia; Brigattie, Karlla W.; de Jonga, Job; Breeseg, Robert S.; Ko, Seungyeon; Puffenbergere, Erik G.; Van Houtc, Cristopher; Younge, Millie; Lunah, Victor M.; Staplesc, Jeffrey; First, Michael B.; Gregoirea, Hilledna J.; Dworka, Andrew J.; Pefanisg, Evangelos; Mccarthyc, Shane; Brydges, Susannah; Rojasg, Jose; Yec, Bin; Stahlc, Eli; Di Gioiac, Silvio Alessandro; Hena, Rene; Elwoodi, Kevin; Rosoklijaa, Gorazd; Lic, Dadong; Mellisg, Scott; Careyi, David; Crollg, Susan D.; Overtonc, John D.; Macdonaldg, Lynn E.; Economidesc, Aris N.; Shuldinerc, Alan R.; Chuhmaf, Nao; Rayportf, Stephen; Aminj, Najaf; Kushnera, Steven A.; Haberg, Nicole Alessandri-; Markx, Sander; Strauss, Kevin A. 分享 收藏
Identification of Novel Genetic Risk Variants Associated with Hidradenitis Suppurativa in an Exome Sequencing Cohort of 92,455 Individuals 在92,455个人的外显子组测序队列中鉴定与化脓性汗腺炎相关的新遗传风险变异 Metpally, Raghu P.; Vishweswaraiah, Sangeetha; Krishnamurthy, Sarathbabu; Saiyed, Nazia; Stahl, Richard C.; Golden, Alicia; Denisenko, Andrew; Staples, Jeffrey; Gonzaga-Jauregui, Claudia; Carey, David J.; Bechara, Falk; Jemec, Gregor B. E.; Williams, Heinric; Radhakrishna, Uppala; Geisinger-Regeneron DiscovEHR Collaboration 分享 收藏
Population-scale analysis of common and rare genetic variation associated with hearing loss in adults 与成人听力损失相关的常见和罕见遗传变异的人群规模分析 Praveen, Kavita; Dobbyn, Lee; Gurski, Lauren; Ayer, Ariane H.; Staples, Jeffrey; Mishra, Shawn; Bai, Yu; Kaufman, Alexandra; Moscati, Arden; Benner, Christian; Chen, Esteban; Chen, Siying; Popov, Alexander; Smith, Janell; Melander, Olle; Jones, Marcus; Marchini, Jonathan; Balasubramanian, Suganthi; Zambrowicz, Brian; Drummond, Meghan; Baras, Aris; Abecasis, Goncalo R.; Ferreira, Manuel A.; Stahl, Eli A.; Coppola, Giovanni 分享 收藏
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Mutation spectrum of NOD2 reveals recessive inheritance as a main driver of Early Onset Crohn's Disease Horowitz, Julie E.; Warner, Neil; Staples, Jeffrey; Crowley, Eileen; Gosalia, Nehal; Murchie, Ryan; Van Hout, Cristopher; Fiedler, Karoline; Welch, Gabriel; King, Alejandra Klauer; Reid, Jeffrey G.; Overton, John D.; Baras, Aris; Shuldiner, Alan R.; Griffiths, Anne; Gottesman, Omri; Muise, Aleixo M.; Gonzaga-Jauregui, Claudia 分享 收藏
Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide Gonzaga-Jauregui, Claudia; Yesil, Gozde; Nistala, Harikiran; Gezdirici, Alper; Bayram, Yavuz; Nannuru, Kalyan C.; Pehlivan, Davut; Yuan, Bo; Jimenez, Johanna; Sahin, Yavuz; Paine, Ingrid S.; Akdemir, Zeynep Coban; Rajamani, Saathyaki; Staples, Jeffrey; Dronzek, John; Howell, Kristen; Fatih, Jawid M.; Smaldone, Silvia; Schlesinger, Alan E.; Ramirez, Norman; Cornier, Alberto S.; Kelly, Melissa A.; Haber, Robert; Chim, Shek Man; Nieman, Kristy; Wu, Nan; Walls, Johnathon; Poueymirou, William; Siao, Chia-Jen; Sutton, V. Reid; Williams, Marc S.; Posey, Jennifer E.; Gibbs, Richard A.; Carlo, Simon; Tegay, David H.; Economides, Aris N.; Lupski, James R. 分享 收藏
Clinical and Molecular Prevalence of Lipodystrophy in an Unascertained Large Clinical Care Cohort Gonzaga-Jauregui, Claudia; Ge, Wenzhen; Staples, Jeffrey; Van Hout, Cristopher; Yadav, Ashish; Colonie, Ryan; Leader, Joseph B.; Kirchner, H. Lester; Murray, Michael F.; Reid, Jeffrey G.; Carey, David J.; Overton, John D.; Shuldiner, Alan R.; Gottesman, Omri; Gao, Steve; Gromada, Jesper; Baras, Aris; Altarejos, Judith 分享 收藏
Prevalence of GCK-MODY in 92,412 Exomes from an Unselected Clinical Population Mirshahi, Uyenlinh L.; Goehringer, Jessica M.; Hu, Ying; Wardeh, Amr H.; Williams, Janet; Manney, Catarina B.; Staples, Jeffrey C.; Leader, Joseph B.; Shuldiner, Alan R.; Pollin, Toni I.; Carey, David J. 分享 收藏
Profiling and Leveraging Relatedness in a Precision Medicine Cohort of 92,455 Exomes Staples, Jeffrey; Maxwell, Evan K.; Gosalia, Nehal; Gonzaga-Jauregui, Claudia; Snyder, Christopher; Hawes, Alicia; Penn, John; Ulloa, Ricardo; Bai, Xiaodong; Lopez, Alexander E.; Van Hout, Cristopher V.; O'Dushlaine, Colm; Teslovich, Tanya M.; McCarthy, Shane E.; Balasubramanian, Suganthi; Kirchner, H. Lester; Leader, Joseph B.; Murray, Michael F.; Ledbetter, David H.; Shuldiner, Alan R.; Yancoupolos, George D.; Dewey, Frederick E.; Carey, David J.; Overton, John D.; Baras, Aris; Habegger, Lukas; Reid, Jeffrey G. 分享 收藏
X-LINKED INHIBITOR OF APOPTOSIS PROTEIN (XIAP) GENETIC VARIANTS IN PAEDIATRIC-ONSET IBD Crowley, Eileen; Elkadri, A.; Warner, N.; Zhang, Shiqi; Horowitz, J.; Staples, Jeffrey; Overton, John; Dewey, F.; Gonzaga-Jauregui, C.; Griffiths, Anne M.; Muise, Aleixo 分享 收藏
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