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From paleness to albinism: Contribution of OCA2 exon 10 skipping to hypopigmentation 从苍白到白化病：OCA2外显子10跳读对色素减少的贡献 Mercier, Elina; Tregouet, David-Alexandre; Campagne, Sebastien; Michaud, Vincent; Green, David J.; Mesdaghi, Shahram; Le Gallais, Orane; Jouannigot-Castano, Orphee; Rigden, Daniel J.; Estay-Ahumada, Catherine; Hicks, David; Sergouniotis, Panagiotis I.; Arveiler, Benoit; Javerzat, Sophie 分享 收藏
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Polygenic score integrating neurodegenerative and vascular risk informs dementia risk stratification 多基因评分整合神经退行性和血管性风险，为痴呆风险分层提供信息 D'Aoust, T; Clocchiatti-Tuozzo, S; Rivier, CA; Mishra, A; Hachiya, T; Grenier-Boley, B; Soumare, A; Duperron, MG; Le Grand, Q; Bouteloup, V; Proust-Lima, C; Samieri, C; Neuffer, J; Sargurupremraj, M; Chene, G; Helmer, C; Thibault, M; Amouyel, P; Lambert, JC; Kamatani, Y; Jacqmin-Gadda, H; Tregouet, DA; Inouye, M; Dufouil, C; Falcone, GJ; Debette, S 分享 收藏
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Genome-wide association study reveals mechanisms underlying dilated cardiomyopathy and myocardial resilience (NOV, 10.1038/s41588-024-01975-5, 2024) 全基因组关联研究揭示扩张型心肌病和心肌弹性的机制 (NOV，10.1038/s41588-024-01975-5，2024) Jurgens, Sean J.; Raemoe, Joel T.; Kramarenko, Daria R.; Wijdeveld, Leonoor F. J. M.; Haas, Jan; Chaffin, Mark D.; Garnier, Sophie; Gaziano, Liam; Weng, Lu-Chen; Lipov, Alex; Zheng, Sean L.; Henry, Albert; Huffman, Jennifer E.; Challa, Saketh; Ruehle, Frank; Verdugo, Carmen Diaz; Juarez, Christian Krijger; Kany, Shinwan; van Orsouw, Constance A.; Biddinger, Kiran; Poel, Edwin; Elliott, Amanda L.; Wang, Xin; Francis, Catherine; Ruan, Richard; Koyama, Satoshi; Beekman, Leander; Zimmerman, Dominic S.; Deleuze, Jean-Francois; Villard, Eric; Tregouet, David-Alexandre; Isnard, Richard; Boomsma, Dorret I.; de Geus, Eco J. C.; Tadros, Rafik; Pinto, Yigal M.; Wilde, Arthur A. M.; Hottenga, Jouke-Jan; Sinisalo, Juha; Niiranen, Teemu; Walsh, Roddy; Schmidt, Amand F.; Choi, Seung Hoan; Chang, Kyong-Mi; Tsao, Philip S.; Matthews, Paul M.; Ware, James S.; Lumbers, R. Thomas; van der Crabben, Saskia; Laukkanen, Jari; Palotie, Aarno; Amin, Ahmad S.; Charron, Philippe; Meder, Benjamin; Ellinor, Patrick T.; Daly, Mark; Aragam, Krishna G.; Bezzina, Connie R. 分享 收藏
Assessment of a next generation sequencing gene panel strategy in 133 patients with negative thrombophilia screening Suchon, Pierre; Soukarieh, Omar; Bernard, Clara; Mariotti, Antoine; Ernest, Vincent; Barthet, Marie-Christine; Saut, Noemie; Theron, Alexandre; Biron-Andreani, Christine; Daniel, Melanie Y.; Catella, Judith; Rohrlich, Pierre-Simon; Blanc-Jouvan, Florence; Duchez, Veronique Le Cam; Dari, Loubna; Tregouet, David-Alexandre; Morange, Pierre-Emmanuel 分享 收藏
Genome-wide association study reveals mechanisms underlying dilated cardiomyopathy and myocardial resilience 全基因组关联研究揭示扩张型心肌病和心肌弹性的机制 Jurgens, Sean J.; Raemoe, Joel T.; Kramarenko, Daria R.; Wijdeveld, Leonoor F. J. M.; Haas, Jan; Chaffin, Mark D.; Garnier, Sophie; Gaziano, Liam; Weng, Lu-Chen; Lipov, Alex; Zheng, Sean L.; Henry, Albert; Huffman, Jennifer E.; Challa, Saketh; Ruehle, Frank; Verdugo, Carmen Diaz; Krijger Juarez, Christian; Kany, Shinwan; van Orsouw, Constance A.; Biddinger, Kiran; Poel, Edwin; Elliott, Amanda L.; Wang, Xin; Francis, Catherine; Ruan, Richard; Koyama, Satoshi; Beekman, Leander; Zimmerman, Dominic S.; Deleuze, Jean-Francois; Villard, Eric; Tregouet, David-Alexandre; Isnard, Richard; Boomsma, Dorret I.; de Geus, Eco J. C.; Tadros, Rafik; Pinto, Yigal M.; Wilde, Arthur A. M.; Hottenga, Jouke-Jan; Sinisalo, Juha; Niiranen, Teemu; Walsh, Roddy; Schmidt, Amand F.; Choi, Seung Hoan; Chang, Kyong-Mi; Tsao, Philip S.; Matthews, Paul M.; Ware, James S.; Lumbers, R. Thomas; van der Crabben, Saskia; Laukkanen, Jari; Palotie, Aarno; Amin, Ahmad S.; Charron, Philippe; Meder, Benjamin; Ellinor, Patrick T.; Daly, Mark; Aragam, Krishna G.; Bezzina, Connie R. 分享 收藏
Genome-Wide Search for Nonadditive Allele Effects Identifies PSKH2 as Involved in the Variability of Factor V Activity 全基因组搜索非加性等位基因效应确定PSKH2参与因子V活性的变异性 Gendre, Blandine; Martinez-Perez, Angel; Kleber, Marcus E.; Vlieg, Astrid van Hylckama; Boland, Anne; Olaso, Robert; Germain, Marine; Munsch, Gaelle; Moissl, Angela Patricia; Suchon, Pierre; Souto, Juan Carlos; Soria, Jose Manuel; Deleuze, Jean-Francois; Maerz, Winfried; Rosendaal, Frits R.; Sabater-Lleal, Maria; Morange, Pierre-Emmanuel; Tregouet, David-Alexandre 分享 收藏
Integrative Multiomics in the Lung Reveals a Protective Role of Asporin in Pulmonary Arterial Hypertension 肺中的整合多组学揭示了Asporin在肺动脉高压中的保护作用 Hong, Jason; Medzikovic, Lejla; Sun, Wasila; Wong, Brenda; Ruffenach, Gregoire; Rhodes, Christopher J.; Brownstein, Adam; Liang, Lloyd L.; Aryan, Laila; Li, Min; Vadgama, Arjun; Kurt, Zeyneb; Schwantes-An, Tae-Hwi; Mickler, Elizabeth A.; Graf, Stefan; Eyries, Melanie; Lutz, Katie A.; Pauciulo, Michael W.; Trembath, Richard C.; Perros, Frederic; Montani, David; Morrell, Nicholas W.; Soubrier, Florent; Wilkins, Martin R.; Nichols, William C.; Aldred, Micheala A.; Desai, Ankit A.; Tregouet, David-Alexandre; Umar, Soban; Saggar, Rajan; Channick, Richard; Tuder, Rubin M.; Geraci, Mark W.; Stearman, Robert S.; Yang, Xia; Eghbali, Mansoureh 分享 收藏
High risk of long-term recurrence after a first episode of venous thromboembolism during pregnancy or postpartum: the REcurrence after a PrEgnAncy related Thrombosis (REPEAT) Study Ibrahim-Kosta, Manal; El Harake, Sarah; Leclercq, Barbara; De Mari, Celine; Secondi, Jean-Francois; Paoletti, Emilie; Suchon, Pierre; Benredouane, Yasmine; Brunet, Dominique; Barthet, Marie-Christine; Bruzelius, Maria; Munsch, Gaelle; Tregouet, David-Alexandre; Morange, Pierre-Emmanuel; Goumidi, Louisa; Sarlon-Bartoli, Gabrielle 分享 收藏
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Plasma levels of complement components C5 and C9 are associated with thrombin generation Diaz, Rocio Vacik; Munsch, Gaelle; Iglesias, Maria Jesus; Robles, Alejandro Pallares; Ibrahim-Kosta, Manal; Nourse, Jamie; Khan, Essak; Castoldi, Elisabetta; Saut, Noemie; Boland, Anne; Germain, Marine; Deleuze, Jean-Francois; Odeberg, Jacob; Morange, Pierre-Emmanuel; Danckwardt, Sven; Tregouet, David-Alexandre; Goumidi, Louisa 分享 收藏
CAVIN1-Mediated hERG Dynamics: A Novel Mechanism Underlying the Interindividual Variability in Drug-Induced Long QT Al Sayed, Zeina R.; Pereira, Celine; Le Borgne, Remi; de Lesegno, Christine Viaris; Jouve, Charlene; Penard, Esthel; Mallet, Adeline; Masurkar, Nihar; Loussouarn, Gildas; Verbavatz, Jean-Marc; Lamaze, Christophe; Tregouet, David-Alexandre; Hulot, Jean-Sebastien 分享 收藏
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Genome-wide investigation of exogenous female hormones, genetic variation, and venous thromboembolism risk Hasser, Emily K.; Brody, Jennifer A.; Bartz, Traci M.; Thibord, Florian; Li-Gao, Ruifang; Kauko, Anni; Wiggins, Kerri L.; Teder-Laving, Maris; Kim, Jihye; Munsch, Gaelle; Haile, Helen G.; Deleuze, Jean-Francois; Vlieg, Astrid van Hylckama; Wolberg, Alisa S.; Boland, Anne; Morange, Pierre-Emmanuel; Kraft, Peter; Lowenstein, Charles J.; Emmerich, Joseph; Sitlani, Colleen M.; Suchon, Pierre; Rosendaal, Frits R.; Niiranen, Teemu; Kabrhel, Christopher; Tregouet, David-Alexandre; Smith, Nicholas L. 分享 收藏
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Multi-ancestry polygenic risk scores for venous thromboembolism 静脉血栓栓塞的多祖先多基因风险评分 Jee, Yon Ho; Thibord, Florian; Dominguez, Alicia; Sept, Corriene; Boulier, Kristin; Venkateswaran, Vidhya; Ding, Yi; Cherlin, Tess; Verma, Shefali Setia; Lo Faro, Valeria; Bartz, Traci M.; Boland, Anne; Brody, Jennifer A.; Deleuze, Jean-Francois; Emmerich, Joseph; Germain, Marine; Johnson, Andrew D.; Kooperberg, Charles; Morange, Pierre-Emmanuel; Pankratz, Nathan; Psaty, Bruce M.; Reiner, Alexander P.; Smadja, David M.; Sitlani, Colleen M.; Suchon, Pierre; Tang, Weihong; Tregouet, David-Alexandre; Zollner, Sebastian; Pasaniuc, Bogdan; Damrauer, Scott M.; Sanna, Serena; Snieder, Harold; Kabrhel, Christopher; Smith, Nicholas L.; Kraft, Peter 分享 收藏
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