日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Novel early‐onset Alzheimer‐associated genes influence risk through dysregulation of glutamate, immune activation, and intracell signaling pathways

新型早发性阿尔茨海默病相关基因通过谷氨酸失调、免疫激活和细胞内信号通路影响患病风险

Huang, Xiayuan; Arora, Jatin; Erzurumluoglu, Abdullah Mesut; Stanhope, Stephen A; Lam, Daniel; Zhao, Hongyu; Ding, Zhihao; Wang, Zuoheng; de Jong, Johann; Sung, Yun Ju Ju; Do, Anh; Song, Soomin; Wang, Lihua; Western, Daniel; Kwon, Jiseon; Timsina, Jigyasha; Liu, Menghan; Budde, John P; Ruiz, Agustin; Pastor, Pau; Wyss‐Coray, Tony; Chen, Han; Cruchaga, Carlos; Gulhan, Ali; Tejeda, Marlene; Newman, Caitlin; Farrell, John J; Zhu, Congcong; Wetzler, Lee; Lunetta, Kathryn L; Bush, William S; Martin, Eden R; Wang, Li‐San; Schellenberg, Gerald D; Pericak‐Vance, Margaret; Haines, Jonathan L; Farrer, Lindsay A; Sherva, Richard; Mews, Makaela; Mustafa, Yousef; Wheeler, Nicholas R; Gu, Tianjie; Gomez, Lissette; Adams, Larry D; Starks, Takiyah D; Cornejo‐Olivas, Mario; Illanes‐Manrique, Maryenela; Silva, Concepcion; Feliciano‐Astacio, Briseida E; Byrd, Goldie S; Pericak‐Vance, Margaret; Haines, Jonathan L; Griswold, Anthony J; Bush, William S; Martin, Eden R; Griswold, Anthony J; Rajabli, Farid; Gu, Tianjie; Golightly, Charles G; Whitehead, Patrice G; Hamilton‐Nelson, Kara L; Adams, Larry D; Sanchez, Jose J; Rodriguez, Vanessa C; Mena, Pedro R; Celis, Katrina; Starks, Takiyah D; Silva, Concepcion; Beecham, Gary W; Bush, William S; Reitz, Christiane; McInerney, Katalina F; Cuccaro, Michael L; Vance, Jeffery M; Feliciano‐Astacio, Briseida E; Byrd, Goldie S; Haines, Jonathan L; Pericak‐Vance, Margaret; van Gils, Veerle; Gómez‐Martínez, Carlos; Schram, Miranda T; Blokland, Gabriëlla AM; Fanelli, Giuseppe; Bralten, Janita; Mota, Nina Roth; Dalsgaard, Søren; Jansen, Jacobus FA; Backes, Walter H; Linden, David EJ; Wesselius, Anke; Berendschot, Tos TJM; Deckers, Kay; van der Kallen, Carla JH; Koster, Annemarie; van Greevenbroek, Marleen MJ; Köhler, Sebastian; Salvadó, Jordi Salas; Visser, Pieter Jelle; Vos, Stephanie J B; Jansen, Willemijn J; Scott, Kyle M; Rajabli, Farid; Akinyemi, Joshua O; Adams, Larry D; Coker, Motunrayo; Akinwande, Kazeem; Diala, Samuel; Whitehead, Patrice G; Ogunronbi, Mayowa; Hamilton‐Nelson, Kara L; Damasceno, Albertino; Zaman, Andrew F; Zewde, Yared Z; Ayele, Biniyam A; Caban‐Holt, Allison M; Ndetei, David; Griswold, Anthony J; Sarfo, Fred Stephen; Blanton, Susan H; Akpalu, Albert; Cuccaro, Michael L; Wahab, Kolawole; McInerney, Katalina F; Obiako, Reginald; Baiyewu, Olusegun; Mena, Pedro R; Okubadejo, Njideka U; Owolabi, Mayowa O; Chavez, Jenny; Martinez, Izri M; Kunkle, Brian W; Vance, Jeffery M; Reitz, Christiane; Tosto, Giuseppe; Williams, Scott M; Bush, William S; Kalaria, Raj; Haines, Jonathan L; Ogunniyi, Adesola; Byrd, Goldie S; Akinyemi, Rufus O; Pericak‐Vance, Margaret; Tranfa, Mario; Pieperhoff, Leonard; Pontillo, Giuseppe; Luckett, Emma S; Collij, Lyduine E; Oliveira, Tiago Gil; Tesi, Niccoló; Vilor‐Tejedor, Natalia; Altmann, Andre; Roccatagliata, Luca; Pardini, Matteo; Payoux, Pierre; Martínez‐Lage, Pablo; Ritchie, Craig; Gispert, Juan Domingo; Brunetti, Arturo; Mutsaerts, Henk; Wink, Alle Meije; Barkhof, Frederik; Lorenzini, Luigi; van der Schaar, Jetske; Visser, Leonie NC; Asscher, Eva; Pijnenburg, Yolande AL; de Geus, Christa; van der Flier, Wiesje M; Bredenoord, Annelien L; van den Hoven, Mariette A; van der Lee, Sven J; Wheeler, Nicholas R; Hamilton‐Nelson, Kara L; Naj, Adam C; Reitz, Christiane; Williams, Scott M; Tosto, Giuseppe; Byrd, Goldie S; Akinyemi, Joshua O; Adams, Larry D; Coker, Motunrayo; Akinwande, Kazeem; Diala, Samuel; Whitehead, Patrice G; Ogunronbi, Mayowa; Scott, Kyle M; Damasceno, Albertino; Zaman, Andrew F; Zewde, Yared Z; Ayele, Biniyam A; Caban‐Holt, Allison M; Ndetei, David; Griswold, Anthony J; Sarfo, Fred Stephen; Blanton, Susan H; Akpalu, Albert; Cuccaro, Michael L; Wahab, Kolawole; McInerney, Katalina F; Obiako, Reginald; Baiyewu, Olusegun; Mena, Pedro R; Okubadejo, Njideka U; Owolabi, Mayowa O; Martinez, Izri M; Vance, Jeffery M; Kalaria, Raj; Ogunniyi, Adesola; Rajabli, Farid; Haines, Jonathan L; Akinyemi, Rufus O; Pericak‐Vance, Margaret; Kunkle, Brian W; Bush, William S; Scaramutti, Carolina; Cai, Dingtian; Rajabli, Farid; Adams, Larry D; Hamilton‐Nelson, Kara L; Cuccaro, Michael L; Dorfsman, Daniel A; Akinyemi, Joshua O; Scott, Kyle M; Coker, Motunrayo; Akinwande, Kazeem; Diala, Samuel; Whitehead, Patrice G; Ogunronbi, Mayowa; Damasceno, Albertino; Zaman, Andrew F; Ayele, Biniyam A; Caban‐Holt, Allison M; Ndetei, David; Sarfo, Fred Stephen; Blanton, Susan H; Akpalu, Albert; Consortium, African Dementia; Pericak‐Vance, Margaret; Seixas, Azizi A; Tejeda, Marlene; Farrell, John J; Zhu, Congcong; Wetzler, Lee; Lunetta, Kathryn L; Mez, Jesse; Bush, William S; Martin, Eden R; Wang, Li‐San; Schellenberg, Gerald D; Pericak‐Vance, Margaret; Haines, Jonathan L; Crane, Paul K; Mukherjee, Shubhabrata; Hohman, Timothy J; Farrer, Lindsay A; Sherva, Richard; Cukier, Holly N; Song, Yeunjoo E; Coombs, Lauren E; Tang, Eugene; Gu, Tianjie; DeRosa, Brooke A; Dykxhoorn, Derek M; Haines, Jonathan L; Pericak‐Vance, Margaret; Bush, William S; Griswold, Anthony J; Olayinka, Oluwatosin A; Farrell, John J; Zhu, Congcong; Khurshid, Zainab; Martin, Eden R; Bush, William S; Pericak‐Vance, Margaret; Wang, Li‐San; Schellenberg, Gerald D; Haines, Jonathan L; Lunetta, Kathryn L; Zhang, Xiaoling; Farrer, Lindsay A; Akgun, Bilcag; Cornejo‐Olivas, Mario; Mena, Pedro R; Adams, Larry D; Celis, Katrina; Whitehead, Patrice G; Hamilton‐Nelson, Kara L; Rios‐Pinto, Julia; Medina‐Colque, Angel; Dalgard, Clifton L; Martin, Eden R; Cornejo‐Herrera, Ivan; Illanes‐Manrique, Maryenela; Ochoa‐Valle, Edward; Sarapura‐Castro, Elison; Mejia ‐ Rojas, Koni; Marca‐Ysabel, Victoria; Castro‐Suarez, Sheila; Griswold, Anthony J; Isasi, Rosario; McInerney, Katalina F; Cuccaro, Michael L; Vance, Jeffery M; Rajabli, Farid; Pericak‐Vance, Margaret; Bradley, Joseph; Western, Daniel; Wang, Ciyang; da Fonseca, Eder Lucio; Neupane, Achal; Kurup, Jiji T; Ray, Nicholas R; Jean‐Francois, Melissa; Bergmann, Kristy; Budde, John P; Martin, Eden R; Pericak‐Vance, Margaret; Cuccaro, Michael L; Naj, Adam C; Kunkle, Brian W; Schellenberg, Gerald D; Fernández, Victoria; Haines, Jonathan L; Morris, John C; Holtzman, David M; Perrin, Richard J; Cruchaga, Carlos; Reitz, Christiane; Beecham, Gary W

Chromosomal abnormalities in couples with recurrent pregnancy loss: a 16-year cross-sectional study of 4030 cases from Turkey

土耳其一项为期16年、纳入4030例复发性流产夫妇的横断面研究:染色体异常

Aynaci, Sabri; Kocagil, Sinem; Tosumoglu, Esfun; Susam, Ezgi; Kilic, Betul; Gokalp, Ebru Erzurumluoglu; Cilingir, Oguz; Aras, Beyhan Durak; Tekin, Basar; Artan, Sevilhan

Genetic variants associated with atrial fibrillationand long-term recurrence after catheter ablation for atrialfibrillation in Turkish patients

土耳其患者房颤导管消融术后长期复发与房颤相关的遗传变异

Ulus, Taner; Dural, Muhammet; Meşe, Pelin; Yetmiş, Furkan; Mert, Kadir Uğur; Görenek, Bülent; Çilingir, Oğuz; Erzurumluoglu Gökalp, Ebru; Arslan, Serap; Artan, Sevilhan; Aykaç, Özlem; Çolak, Ertuğrul; Yorgun, Hikmet; Canpolat, Uğur; Aytemir, Kudret

Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

对超过一百万人的基因分析发现了535个与血压特征相关的新基因位点

Evangelou, Evangelos; Warren, Helen R; Mosen-Ansorena, David; Mifsud, Borbala; Pazoki, Raha; Gao, He; Ntritsos, Georgios; Dimou, Niki; Cabrera, Claudia P; Karaman, Ibrahim; Ng, Fu Liang; Evangelou, Marina; Witkowska, Katarzyna; Tzanis, Evan; Hellwege, Jacklyn N; Giri, Ayush; Velez Edwards, Digna R; Sun, Yan V; Cho, Kelly; Gaziano, J Michael; Wilson, Peter W F; Tsao, Philip S; Kovesdy, Csaba P; Esko, Tonu; Mägi, Reedik; Milani, Lili; Almgren, Peter; Boutin, Thibaud; Debette, Stéphanie; Ding, Jun; Giulianini, Franco; Holliday, Elizabeth G; Jackson, Anne U; Li-Gao, Ruifang; Lin, Wei-Yu; Luan, Jian'an; Mangino, Massimo; Oldmeadow, Christopher; Prins, Bram Peter; Qian, Yong; Sargurupremraj, Muralidharan; Shah, Nabi; Surendran, Praveen; Thériault, Sébastien; Verweij, Niek; Willems, Sara M; Zhao, Jing-Hua; Amouyel, Philippe; Connell, John; de Mutsert, Renée; Doney, Alex S F; Farrall, Martin; Menni, Cristina; Morris, Andrew D; Noordam, Raymond; Paré, Guillaume; Poulter, Neil R; Shields, Denis C; Stanton, Alice; Thom, Simon; Abecasis, Gonçalo; Amin, Najaf; Arking, Dan E; Ayers, Kristin L; Barbieri, Caterina M; Batini, Chiara; Bis, Joshua C; Blake, Tineka; Bochud, Murielle; Boehnke, Michael; Boerwinkle, Eric; Boomsma, Dorret I; Bottinger, Erwin P; Braund, Peter S; Brumat, Marco; Campbell, Archie; Campbell, Harry; Chakravarti, Aravinda; Chambers, John C; Chauhan, Ganesh; Ciullo, Marina; Cocca, Massimiliano; Collins, Francis; Cordell, Heather J; Davies, Gail; de Borst, Martin H; de Geus, Eco J; Deary, Ian J; Deelen, Joris; Del Greco M, Fabiola; Demirkale, Cumhur Yusuf; Dörr, Marcus; Ehret, Georg B; Elosua, Roberto; Enroth, Stefan; Erzurumluoglu, A Mesut; Ferreira, Teresa; Frånberg, Mattias; Franco, Oscar H; Gandin, Ilaria; Gasparini, Paolo; Giedraitis, Vilmantas; Gieger, Christian; Girotto, Giorgia; Goel, Anuj; Gow, Alan J; Gudnason, Vilmundur; Guo, Xiuqing; Gyllensten, Ulf; Hamsten, Anders; Harris, Tamara B; Harris, Sarah E; Hartman, Catharina A; Havulinna, Aki S; Hicks, Andrew A; Hofer, Edith; Hofman, Albert; Hottenga, Jouke-Jan; Huffman, Jennifer E; Hwang, Shih-Jen; Ingelsson, Erik; James, Alan; Jansen, Rick; Jarvelin, Marjo-Riitta; Joehanes, Roby; Johansson, Åsa; Johnson, Andrew D; Joshi, Peter K; Jousilahti, Pekka; Jukema, J Wouter; Jula, Antti; Kähönen, Mika; Kathiresan, Sekar; Keavney, Bernard D; Khaw, Kay-Tee; Knekt, Paul; Knight, Joanne; Kolcic, Ivana; Kooner, Jaspal S; Koskinen, Seppo; Kristiansson, Kati; Kutalik, Zoltan; Laan, Maris; Larson, Marty; Launer, Lenore J; Lehne, Benjamin; Lehtimäki, Terho; Liewald, David C M; Lin, Li; Lind, Lars; Lindgren, Cecilia M; Liu, YongMei; Loos, Ruth J F; Lopez, Lorna M; Lu, Yingchang; Lyytikäinen, Leo-Pekka; Mahajan, Anubha; Mamasoula, Chrysovalanto; Marrugat, Jaume; Marten, Jonathan; Milaneschi, Yuri; Morgan, Anna; Morris, Andrew P; Morrison, Alanna C; Munson, Peter J; Nalls, Mike A; Nandakumar, Priyanka; Nelson, Christopher P; Niiranen, Teemu; Nolte, Ilja M; Nutile, Teresa; Oldehinkel, Albertine J; Oostra, Ben A; O'Reilly, Paul F; Org, Elin; Padmanabhan, Sandosh; Palmas, Walter; Palotie, Aarno; Pattie, Alison; Penninx, Brenda W J H; Perola, Markus; Peters, Annette; Polasek, Ozren; Pramstaller, Peter P; Nguyen, Quang Tri; Raitakari, Olli T; Ren, Meixia; Rettig, Rainer; Rice, Kenneth; Ridker, Paul M; Ried, Janina S; Riese, Harriëtte; Ripatti, Samuli; Robino, Antonietta; Rose, Lynda M; Rotter, Jerome I; Rudan, Igor; Ruggiero, Daniela; Saba, Yasaman; Sala, Cinzia F; Salomaa, Veikko; Samani, Nilesh J; Sarin, Antti-Pekka; Schmidt, Reinhold; Schmidt, Helena; Shrine, Nick; Siscovick, David; Smith, Albert V; Snieder, Harold; Sõber, Siim; Sorice, Rossella; Starr, John M; Stott, David J; Strachan, David P; Strawbridge, Rona J; Sundström, Johan; Swertz, Morris A; Taylor, Kent D; Teumer, Alexander; Tobin, Martin D; Tomaszewski, Maciej; Toniolo, Daniela; Traglia, Michela; Trompet, Stella; Tuomilehto, Jaakko; Tzourio, Christophe; Uitterlinden, André G; Vaez, Ahmad; van der Most, Peter J; van Duijn, Cornelia M; Vergnaud, Anne-Claire; Verwoert, Germaine C; Vitart, Veronique; Völker, Uwe; Vollenweider, Peter; Vuckovic, Dragana; Watkins, Hugh; Wild, Sarah H; Willemsen, Gonneke; Wilson, James F; Wright, Alan F; Yao, Jie; Zemunik, Tatijana; Zhang, Weihua; Attia, John R; Butterworth, Adam S; Chasman, Daniel I; Conen, David; Cucca, Francesco; Danesh, John; Hayward, Caroline; Howson, Joanna M M; Laakso, Markku; Lakatta, Edward G; Langenberg, Claudia; Melander, Olle; Mook-Kanamori, Dennis O; Palmer, Colin N A; Risch, Lorenz; Scott, Robert A; Scott, Rodney J; Sever, Peter; Spector, Tim D; van der Harst, Pim; Wareham, Nicholas J; Zeggini, Eleftheria; Levy, Daniel; Munroe, Patricia B; Newton-Cheh, Christopher; Brown, Morris J; Metspalu, Andres; Hung, Adriana M; O'Donnell, Christopher J; Edwards, Todd L; Psaty, Bruce M; Tzoulaki, Ioanna; Barnes, Michael R; Wain, Louise V; Elliott, Paul; Caulfield, Mark J

Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney

利用全基因组关联研究和血液及肾脏表达数据集发现新的血压位点和基因

Wain, Louise V; Vaez, Ahmad; Jansen, Rick; Joehanes, Roby; van der Most, Peter J; Erzurumluoglu, A Mesut; O'Reilly, Paul F; Cabrera, Claudia P; Warren, Helen R; Rose, Lynda M; Verwoert, Germaine C; Hottenga, Jouke-Jan; Strawbridge, Rona J; Esko, Tonu; Arking, Dan E; Hwang, Shih-Jen; Guo, Xiuqing; Kutalik, Zoltan; Trompet, Stella; Shrine, Nick; Teumer, Alexander; Ried, Janina S; Bis, Joshua C; Smith, Albert V; Amin, Najaf; Nolte, Ilja M; Lyytikäinen, Leo-Pekka; Mahajan, Anubha; Wareham, Nicholas J; Hofer, Edith; Joshi, Peter K; Kristiansson, Kati; Traglia, Michela; Havulinna, Aki S; Goel, Anuj; Nalls, Mike A; Sõber, Siim; Vuckovic, Dragana; Luan, Jian'an; Del Greco M, Fabiola; Ayers, Kristin L; Marrugat, Jaume; Ruggiero, Daniela; Lopez, Lorna M; Niiranen, Teemu; Enroth, Stefan; Jackson, Anne U; Nelson, Christopher P; Huffman, Jennifer E; Zhang, Weihua; Marten, Jonathan; Gandin, Ilaria; Harris, Sarah E; Zemunik, Tatijana; Lu, Yingchang; Evangelou, Evangelos; Shah, Nabi; de Borst, Martin H; Mangino, Massimo; Prins, Bram P; Campbell, Archie; Li-Gao, Ruifang; Chauhan, Ganesh; Oldmeadow, Christopher; Abecasis, Gonçalo; Abedi, Maryam; Barbieri, Caterina M; Barnes, Michael R; Batini, Chiara; Beilby, John; Blake, Tineka; Boehnke, Michael; Bottinger, Erwin P; Braund, Peter S; Brown, Morris; Brumat, Marco; Campbell, Harry; Chambers, John C; Cocca, Massimiliano; Collins, Francis; Connell, John; Cordell, Heather J; Damman, Jeffrey J; Davies, Gail; de Geus, Eco J; de Mutsert, Renée; Deelen, Joris; Demirkale, Yusuf; Doney, Alex S F; Dörr, Marcus; Farrall, Martin; Ferreira, Teresa; Frånberg, Mattias; Gao, He; Giedraitis, Vilmantas; Gieger, Christian; Giulianini, Franco; Gow, Alan J; Hamsten, Anders; Harris, Tamara B; Hofman, Albert; Holliday, Elizabeth G; Hui, Jennie; Jarvelin, Marjo-Riitta; Johansson, Åsa; Johnson, Andrew D; Jousilahti, Pekka; Jula, Antti; Kähönen, Mika; Kathiresan, Sekar; Khaw, Kay-Tee; Kolcic, Ivana; Koskinen, Seppo; Langenberg, Claudia; Larson, Marty; Launer, Lenore J; Lehne, Benjamin; Liewald, David C M; Lin, Li; Lind, Lars; Mach, François; Mamasoula, Chrysovalanto; Menni, Cristina; Mifsud, Borbala; Milaneschi, Yuri; Morgan, Anna; Morris, Andrew D; Morrison, Alanna C; Munson, Peter J; Nandakumar, Priyanka; Nguyen, Quang Tri; Nutile, Teresa; Oldehinkel, Albertine J; Oostra, Ben A; Org, Elin; Padmanabhan, Sandosh; Palotie, Aarno; Paré, Guillaume; Pattie, Alison; Penninx, Brenda W J H; Poulter, Neil; Pramstaller, Peter P; Raitakari, Olli T; Ren, Meixia; Rice, Kenneth; Ridker, Paul M; Riese, Harriëtte; Ripatti, Samuli; Robino, Antonietta; Rotter, Jerome I; Rudan, Igor; Saba, Yasaman; Saint Pierre, Aude; Sala, Cinzia F; Sarin, Antti-Pekka; Schmidt, Reinhold; Scott, Rodney; Seelen, Marc A; Shields, Denis C; Siscovick, David; Sorice, Rossella; Stanton, Alice; Stott, David J; Sundström, Johan; Swertz, Morris; Taylor, Kent D; Thom, Simon; Tzoulaki, Ioanna; Tzourio, Christophe; Uitterlinden, André G; Völker, Uwe; Vollenweider, Peter; Wild, Sarah; Willemsen, Gonneke; Wright, Alan F; Yao, Jie; Thériault, Sébastien; Conen, David; Attia, John; Sever, Peter; Debette, Stéphanie; Mook-Kanamori, Dennis O; Zeggini, Eleftheria; Spector, Tim D; van der Harst, Pim; Palmer, Colin N A; Vergnaud, Anne-Claire; Loos, Ruth J F; Polasek, Ozren; Starr, John M; Girotto, Giorgia; Hayward, Caroline; Kooner, Jaspal S; Lindgren, Cecila M; Vitart, Veronique; Samani, Nilesh J; Tuomilehto, Jaakko; Gyllensten, Ulf; Knekt, Paul; Deary, Ian J; Ciullo, Marina; Elosua, Roberto; Keavney, Bernard D; Hicks, Andrew A; Scott, Robert A; Gasparini, Paolo; Laan, Maris; Liu, YongMei; Watkins, Hugh; Hartman, Catharina A; Salomaa, Veikko; Toniolo, Daniela; Perola, Markus; Wilson, James F; Schmidt, Helena; Zhao, Jing Hua; Lehtimäki, Terho; van Duijn, Cornelia M; Gudnason, Vilmundur; Psaty, Bruce M; Peters, Annette; Rettig, Rainer; James, Alan; Jukema, J Wouter; Strachan, David P; Palmas, Walter; Metspalu, Andres; Ingelsson, Erik; Boomsma, Dorret I; Franco, Oscar H; Bochud, Murielle; Newton-Cheh, Christopher; Munroe, Patricia B; Elliott, Paul; Chasman, Daniel I; Chakravarti, Aravinda; Knight, Joanne; Morris, Andrew P; Levy, Daniel; Tobin, Martin D; Snieder, Harold; Caulfield, Mark J; Ehret, Georg B

Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney

利用全基因组关联研究和血液及肾脏表达数据集发现新的血压位点和基因

Louise V Wain,Ahmad Vaez,Rick Jansen,Roby Joehanes,Peter J van der Most,A Mesut Erzurumluoglu,Paul F O'Reilly,Claudia P Cabrera,Helen R Warren,Lynda M Rose,Germaine C Verwoert,Jouke-Jan Hottenga,Rona J Strawbridge,Tonu Esko ,Dan E Arking,Shih-Jen Hwang,Xiuqing Guo,Zoltan Kutalik,Stella Trompet,Nick Shrine,Alexander Teumer,Janina S Ried,Joshua C Bis,Albert V Smith,Najaf Amin,Ilja M Nolte,Leo-Pekka Lyytikäinen,Anubha Mahajan,Nicholas J Wareham,Edith Hofer,Peter K Joshi,Kati Kristiansson,Michela Traglia,Aki S Havulinna,Anuj Goel,Mike A Nalls,Siim Sõber,Dragana Vuckovic,Jian'an Luan,Fabiola Del Greco M,Kristin L Ayers,Jaume Marrugat,Daniela Ruggiero,Lorna M Lopez ,Teemu Niiranen,Stefan Enroth,Anne U Jackson,Christopher P Nelson,Jennifer E Huffman,Weihua Zhang,Jonathan Marten,Ilaria Gandin,Sarah E Harris,Tatijana Zemunik,Yingchang Lu,Evangelos Evangelou,Nabi Shah,Martin H de Borst,Massimo Mangino,Bram P Prins,Archie Campbell,Ruifang Li-Gao,Ganesh Chauhan,Christopher Oldmeadow,Gonçalo Abecasis,Maryam Abedi,Caterina M Barbieri,Michael R Barnes,Chiara Batini,John Beilby      ; BIOS Consortium; Tineka Blake,Michael Boehnke,Erwin P Bottinger,Peter S Braund,Morris Brown,Marco Brumat,Harry Campbell,John C Chambers ,Massimiliano Cocca,Francis Collins,John Connell,Heather J Cordell,Jeffrey J Damman,Gail Davies,Eco J de Geus,Renée de Mutsert,Joris Deelen,Yusuf Demirkale,Alex S F Doney,Marcus Dörr,Martin Farrall,Teresa Ferreira,Mattias Frånberg ,He Gao,Vilmantas Giedraitis,Christian Gieger,Franco Giulianini,Alan J Gow,Anders Hamsten,Tamara B Harris,Albert Hofman,Elizabeth G Holliday,Jennie Hui ,Marjo-Riitta Jarvelin ,Åsa Johansson,Andrew D Johnson,Pekka Jousilahti,Antti Jula,Mika Kähönen,Sekar Kathiresan ,Kay-Tee Khaw,Ivana Kolcic,Seppo Koskinen,Claudia Langenberg,Marty Larson,Lenore J Launer,Benjamin Lehne,David C M Liewald,Li Lin,Lars Lind,François Mach,Chrysovalanto Mamasoula,Cristina Menni,Borbala Mifsud,Yuri Milaneschi,Anna Morgan,Andrew D Morris,Alanna C Morrison,Peter J Munson,Priyanka Nandakumar,Quang Tri Nguyen,Teresa Nutile,Albertine J Oldehinkel,Ben A Oostra,Elin Org,Sandosh Padmanabhan,Aarno Palotie,Guillaume Paré,Alison Pattie,Brenda W J H Penninx,Neil Poulter,Peter P Pramstaller ,Olli T Raitakari,Meixia Ren,Kenneth Rice,Paul M Ridker,Harriëtte Riese,Samuli Ripatti,Antonietta Robino,Jerome I Rotter,Igor Rudan,Yasaman Saba,Aude Saint Pierre,Cinzia F Sala,Antti-Pekka Sarin,Reinhold Schmidt,Rodney Scott ,Marc A Seelen,Denis C Shields,David Siscovick,Rossella Sorice,Alice Stanton,David J Stott,Johan Sundström,Morris Swertz,Kent D Taylor,Simon Thom,Ioanna Tzoulaki,Christophe Tzourio ,André G Uitterlinden    ; Understanding Society Scientific Group; Uwe Völker,Peter Vollenweider,Sarah Wild,Gonneke Willemsen,Alan F Wright,Jie Yao,Sébastien Thériault,David Conen,John Attia ,Peter Sever,Stéphanie Debette ,Dennis O Mook-Kanamori,Eleftheria Zeggini,Tim D Spector,Pim van der Harst,Colin N A Palmer,Anne-Claire Vergnaud,Ruth J F Loos ,Ozren Polasek,John M Starr,Giorgia Girotto,Caroline Hayward,Jaspal S Kooner ,Cecila M Lindgren,Veronique Vitart,Nilesh J Samani,Jaakko Tuomilehto ,Ulf Gyllensten,Paul Knekt,Ian J Deary,Marina Ciullo,Roberto Elosua,Bernard D Keavney,Andrew A Hicks,Robert A Scott,Paolo Gasparini,Maris Laan,YongMei Liu,Hugh Watkins,Catharina A Hartman,Veikko Salomaa,Daniela Toniolo,Markus Perola ,James F Wilson,Helena Schmidt,Jing Hua Zhao,Terho Lehtimäki,Cornelia M van Duijn,Vilmundur Gudnason,Bruce M Psaty ,Annette Peters,Rainer Rettig,Alan James,J Wouter Jukema,David P Strachan,Walter Palmas,Andres Metspalu,Erik Ingelsson,Dorret I Boomsma,Oscar H Franco,Murielle Bochud,Christopher Newton-Cheh ,Patricia B Munroe,Paul Elliott,Daniel I Chasman,Aravinda Chakravarti,Joanne Knight,Andrew P Morris,Daniel Levy,Martin D Tobin,Harold Snieder,Mark J Caulfield,Georg B Ehret    0

Proxy molecular diagnosis from whole-exome sequencing reveals Papillon-Lefevre syndrome caused by a missense mutation in CTSC

全外显子组测序的代理分子诊断揭示了由 CTSC 错义突变引起的 Papillon-Lefevre 综合征

A Mesut Erzurumluoglu, Muslim M Alsaadi, Santiago Rodriguez, Tahani S Alotaibi, Philip A I Guthrie, Sian Lewis, Aasiya Ginwalla, Tom R Gaunt, Khalid K Alharbi, Fahad M Alsaif, Basma M Alsaadi, Ian N M Day

Nonsense mutation in coiled-coil domain containing 151 gene (CCDC151) causes primary ciliary dyskinesia

卷曲螺旋结构域包含151基因(CCDC151)的无义突变导致原发性纤毛运动障碍

Alsaadi, Muslim M; Erzurumluoglu, A Mesut; Rodriguez, Santiago; Guthrie, Philip A I; Gaunt, Tom R; Omar, Hager Z; Mubarak, Mohammad; Alharbi, Khalid K; Al-Rikabi, Ammar C; Day, Ian N M