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Yalda Jamshidi
Manchester University NHS Foundation Trust
45H指数
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UK Biobank: Transforming drug discovery and precision medicineUK Biobank：变革药物发现和精准医学.png)
2025-11-01
0
OAAI
Besevic, Jelena; Said, Saredo; Nagy, Reka; Jamshidi, Yalda; Whelan, Christopher D.; Carson, Lauren; Rutter, Martin K.; Lewandowski, Adam J.; Effingham, Mark; Collins, Rory; Lacey, Ben; Allen, Naomi E.
2025-11-010OAAIBesevic, Jelena; Said, Saredo; Nagy, Reka; Jamshidi, Yalda; Whelan, Christopher D.; Carson, Lauren; Rutter, Martin K.; Lewandowski, Adam J.; Effingham, Mark; Collins, Rory; Lacey, Ben; Allen, Naomi E..png){kind=icon}
分享.png){kind=icon}
收藏Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics扩展遗传性痉挛性截瘫痷的范围：脑瘫中双等位基因SPAST变异的模拟2025-09-260OAAIGregorio A. Nolasco; Mònica Roldán; Yalda Jamshidi; Ioannis Georvasilis; Rocío Jadraque Rodríguez; Reza Boostani; Ali Shoeibi; Lluís Armengol; Anna Codina; Ehsan Ghayoor Karimiani; Cristina Hernando-Davalillo; Loreto Martorell; María Luisa Ramírez Almaraz; Jordi Muchart; Carlos Ortez; Andrés Nascimento; Roser Urreizti; Daniel Natera-de Benito; Mercedes Serrano
2025-09-260OAAIGregorio A. Nolasco; Mònica Roldán; Yalda Jamshidi; Ioannis Georvasilis; Rocío Jadraque Rodríguez; Reza Boostani; Ali Shoeibi; Lluís Armengol; Anna Codina; Ehsan Ghayoor Karimiani; Cristina Hernando-Davalillo; Loreto Martorell; María Luisa Ramírez Almaraz; Jordi Muchart; Carlos Ortez; Andrés Nascimento; Roser Urreizti; Daniel Natera-de Benito; Mercedes Serrano分享收藏RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity.png)
BRAIN2024-03-250OAAIMaroofian, Reza; Sarraf, Payam; O'Brien, Thomas J.; Kamel, Mona; Cakar, Arman; Elkhateeb, Nour; Lau, Tracy; Patil, Siddaramappa Jagdish; Record, Christopher J.; Horga, Alejandro; Essid, Miriam; Selim, Laila; Benrhouma, Hanene; Ben Younes, Thouraya; Zifarelli, Giovanni; Pagnamenta, Alistair T.; Bauer, Peter; Khundadze, Mukhran; Mirecki, Andrea; Kamel, Sara Mahmoud; Elmonem, Mohamed A.; Karimiani, Ehsan Ghayoor; Jamshidi, Yalda; Offiah, Amaka C.; Rossor, Alexander M.; Ben Youssef-Turki, Ilhem; Huebner, Christian A.; Munot, Pinki; Reilly, Mary M.; Brown, Andre E. X.; Nagy, Sara; Houlden, Henry
BRAINIF11.7
2024-03-250OAAIMaroofian, Reza; Sarraf, Payam; O'Brien, Thomas J.; Kamel, Mona; Cakar, Arman; Elkhateeb, Nour; Lau, Tracy; Patil, Siddaramappa Jagdish; Record, Christopher J.; Horga, Alejandro; Essid, Miriam; Selim, Laila; Benrhouma, Hanene; Ben Younes, Thouraya; Zifarelli, Giovanni; Pagnamenta, Alistair T.; Bauer, Peter; Khundadze, Mukhran; Mirecki, Andrea; Kamel, Sara Mahmoud; Elmonem, Mohamed A.; Karimiani, Ehsan Ghayoor; Jamshidi, Yalda; Offiah, Amaka C.; Rossor, Alexander M.; Ben Youssef-Turki, Ilhem; Huebner, Christian A.; Munot, Pinki; Reilly, Mary M.; Brown, Andre E. X.; Nagy, Sara; Houlden, Henry分享收藏Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disordersBRAIN2023-11-102OAAIKaiyrzhanov, Rauan; Rad, Aboulfazl; Lin, Sheng-Jia; Bertoli-Avella, Aida; Kallemeijn, Wouter W.; Godwin, Annie; Zaki, Maha S.; Huang, Kevin; Lau, Tracy; Petree, Cassidy; Efthymiou, Stephanie; Karimiani, Ehsan Ghayoor; Hempel, Maja; Normand, Elizabeth A.; Rudnik-Schoeneborn, Sabine; Schatz, Ulrich A.; Baggelaar, Marc P.; Ilyas, Muhammad; Sultan, Tipu; Alvi, Javeria Raza; Ganieva, Manizha; Fowler, Ben; Aanicai, Ruxandra; Tayfun, Gulsen Akay; Al Saman, Abdulaziz; Alswaid, Abdulrahman; Amiri, Nafise; Asilova, Nilufar; Shotelersuk, Vorasuk; Yeetong, Patra; Azam, Matloob; Babaei, Meisam; Monajemi, Gholamreza Bahrami; Mohammadi, Pouria; Samie, Saeed; Banu, Selina Husna; Basto, Jorge Pinto; Kortuem, Fanny; Bauer, Mislen; Bauer, Peter; Beetz, Christian; Garshasbi, Masoud; Issa, Awatif Hameed; Eyaid, Wafaa; Ahmed, Hind; Hashemi, Narges; Hassanpour, Kazem; Herman, Isabella; Ibrohimov, Sherozjon; Abdul-Majeed, Ban A.; Imdad, Maria; Isrofilov, Maksudjon; Kaiyal, Qassem; Khan, Suliman; Kirmse, Brian; Koster, Janet; Lourenco, Charles Marques; Mitani, Tadahiro; Moldovan, Oana; Murphy, David; Najafi, Maryam; Pehlivan, Davut; Rocha, Maria Eugenia; Salpietro, Vincenzo; Schmidts, Miriam; Shalata, Adel; Mahroum, Mohammad; Talbeya, Jawabreh Kassem; Taylor, Robert W.; Vazquez, Dayana; Vetro, Annalisa; Waterham, Hans R.; Zaman, Mashaya; Schrader, Tina A.; Chung, Wendy K.; Guerrini, Renzo; Lupski, James R.; Gleeson, Joseph; Suri, Mohnish; Jamshidi, Yalda; Bhatia, Kailash P.; Vona, Barbara; Schrader, Michael; Severino, Mariasavina; Guille, Matthew; Tate, Edward W.; Varshney, Gaurav K.; Houlden, Henry; Maroofian, Reza
BRAINIF11.7
2023-11-102OAAIKaiyrzhanov, Rauan; Rad, Aboulfazl; Lin, Sheng-Jia; Bertoli-Avella, Aida; Kallemeijn, Wouter W.; Godwin, Annie; Zaki, Maha S.; Huang, Kevin; Lau, Tracy; Petree, Cassidy; Efthymiou, Stephanie; Karimiani, Ehsan Ghayoor; Hempel, Maja; Normand, Elizabeth A.; Rudnik-Schoeneborn, Sabine; Schatz, Ulrich A.; Baggelaar, Marc P.; Ilyas, Muhammad; Sultan, Tipu; Alvi, Javeria Raza; Ganieva, Manizha; Fowler, Ben; Aanicai, Ruxandra; Tayfun, Gulsen Akay; Al Saman, Abdulaziz; Alswaid, Abdulrahman; Amiri, Nafise; Asilova, Nilufar; Shotelersuk, Vorasuk; Yeetong, Patra; Azam, Matloob; Babaei, Meisam; Monajemi, Gholamreza Bahrami; Mohammadi, Pouria; Samie, Saeed; Banu, Selina Husna; Basto, Jorge Pinto; Kortuem, Fanny; Bauer, Mislen; Bauer, Peter; Beetz, Christian; Garshasbi, Masoud; Issa, Awatif Hameed; Eyaid, Wafaa; Ahmed, Hind; Hashemi, Narges; Hassanpour, Kazem; Herman, Isabella; Ibrohimov, Sherozjon; Abdul-Majeed, Ban A.; Imdad, Maria; Isrofilov, Maksudjon; Kaiyal, Qassem; Khan, Suliman; Kirmse, Brian; Koster, Janet; Lourenco, Charles Marques; Mitani, Tadahiro; Moldovan, Oana; Murphy, David; Najafi, Maryam; Pehlivan, Davut; Rocha, Maria Eugenia; Salpietro, Vincenzo; Schmidts, Miriam; Shalata, Adel; Mahroum, Mohammad; Talbeya, Jawabreh Kassem; Taylor, Robert W.; Vazquez, Dayana; Vetro, Annalisa; Waterham, Hans R.; Zaman, Mashaya; Schrader, Tina A.; Chung, Wendy K.; Guerrini, Renzo; Lupski, James R.; Gleeson, Joseph; Suri, Mohnish; Jamshidi, Yalda; Bhatia, Kailash P.; Vona, Barbara; Schrader, Michael; Severino, Mariasavina; Guille, Matthew; Tate, Edward W.; Varshney, Gaurav K.; Houlden, Henry; Maroofian, Reza分享收藏Transcriptional Dysregulation Underlies Both Monogenic Arrhythmia Syndrome and Common Modifiers of Cardiac Repolarization转录失调是单基因心律失常综合征和心脏复极的常见修饰因子的基础CIRCULATION2023-03-0710Bersell, Kevin R.; Yang, Tao; Mosley, Jonathan D.; Glazer, Andrew M.; Hale, Andrew T.; Kryshtal, Dmytro O.; Kim, Kyungsoo; Steimle, Jeffrey D.; Brown, Jonathan D.; Salem, Joe-Elie; Campbell, Courtney C.; Hong, Charles C.; Wells, Quinn S.; Johnson, Amanda N.; Short, Laura; Blair, Marcia A.; Behr, Elijah R.; Petropoulou, Evmorfia; Jamshidi, Yalda; Benson, Mark D.; Keyes, Michelle J.; Ngo, Debby; Vasan, Ramachandran S.; Yang, Qiong; Gerszten, Robert E.; Shaffer, Christian; Parikh, Shan; Sheng, Quanhu; Kannankeril, Prince J.; Moskowitz, Ivan P.; York, John D.; Wang, Thomas J.; Knollmann, Bjorn C.; Roden, Dan M.
CIRCULATIONIF38.6
2023-03-0710PREAI
Bersell, Kevin R.; Yang, Tao; Mosley, Jonathan D.; Glazer, Andrew M.; Hale, Andrew T.; Kryshtal, Dmytro O.; Kim, Kyungsoo; Steimle, Jeffrey D.; Brown, Jonathan D.; Salem, Joe-Elie; Campbell, Courtney C.; Hong, Charles C.; Wells, Quinn S.; Johnson, Amanda N.; Short, Laura; Blair, Marcia A.; Behr, Elijah R.; Petropoulou, Evmorfia; Jamshidi, Yalda; Benson, Mark D.; Keyes, Michelle J.; Ngo, Debby; Vasan, Ramachandran S.; Yang, Qiong; Gerszten, Robert E.; Shaffer, Christian; Parikh, Shan; Sheng, Quanhu; Kannankeril, Prince J.; Moskowitz, Ivan P.; York, John D.; Wang, Thomas J.; Knollmann, Bjorn C.; Roden, Dan M.分享收藏Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalitiesGENETICS IN MEDICINE2023-02-016OAAIWhittle, Ella F.; Chilian, Madison; Karimiani, Ehsan Ghayoor; Progri, Helga; Buhas, Daniela; Kose, Melis; Ganetzky, Rebecca D.; Toosi, Mehran Beiraghi; Torbati, Paria Najarzadeh; Badv, Reza Shervin; Shelihan, Ivan; Yang, Hui; Elloumi, Houda Zghal; Lee, Sukyeong; Jamshidi, Yalda; Pittman, Alan M.; Houlden, Henry; Ignatius, Erika; Rahman, Shamima; Maroofian, Reza; Yoon, Wan Hee; Carrol, Christopher J.
GENETICS IN MEDICINEIF6.2
2023-02-016OAAIWhittle, Ella F.; Chilian, Madison; Karimiani, Ehsan Ghayoor; Progri, Helga; Buhas, Daniela; Kose, Melis; Ganetzky, Rebecca D.; Toosi, Mehran Beiraghi; Torbati, Paria Najarzadeh; Badv, Reza Shervin; Shelihan, Ivan; Yang, Hui; Elloumi, Houda Zghal; Lee, Sukyeong; Jamshidi, Yalda; Pittman, Alan M.; Houlden, Henry; Ignatius, Erika; Rahman, Shamima; Maroofian, Reza; Yoon, Wan Hee; Carrol, Christopher J.分享收藏Reply to Letter by Tellier et al., 'Scientific refutation of ESHG statement on embryo selection' (Dec, 10.1038/s41431-022-01241-4, 2022)2022-12-190OAAIForzano, Francesca; Antonova, Olga; Clarke, Angus; de Wert, Guido; Hentze, Sabine; Jamshidi, Yalda; Moreau, Yves; Perola, Markus; Prokopenko, Inga; Read, Andrew; Reymond, Alexandre; Stefansdottir, Vigdis; van El, Carla; Genuardi, Maurizio
2022-12-190OAAIForzano, Francesca; Antonova, Olga; Clarke, Angus; de Wert, Guido; Hentze, Sabine; Jamshidi, Yalda; Moreau, Yves; Perola, Markus; Prokopenko, Inga; Read, Andrew; Reymond, Alexandre; Stefansdottir, Vigdis; van El, Carla; Genuardi, Maurizio分享收藏Reply to Letter by Tellier et al., 'Scientific refutation of ESHG statement on embryo selection'回复Tellier等人的信，“对ESHG关于胚胎选择的声明的科学驳斥”2022-12-012OAAIForzano, Francesca; Antonova, Olga; Clarke, Angus; de Wert, Guido; Hentze, Sabine; Jamshidi, Yalda; Moreau, Yves; Perola, Markus; Prokopenko, Inga; Read, Andrew; Reymond, Alexandre; Stefansdottir, Vigdis; van El, Carla; Genuardi, Maurizio; European Soc Human Genetics
2022-12-012OAAIForzano, Francesca; Antonova, Olga; Clarke, Angus; de Wert, Guido; Hentze, Sabine; Jamshidi, Yalda; Moreau, Yves; Perola, Markus; Prokopenko, Inga; Read, Andrew; Reymond, Alexandre; Stefansdottir, Vigdis; van El, Carla; Genuardi, Maurizio; European Soc Human Genetics分享收藏Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy2022-10-178OAAIKoopmann, Tamara T.; Jamshidi, Yalda; Naghibi-Sistani, Mohammad; van der Klift, Heleen M.; Birjandi, Hassan; Al-Hassnan, Zuhair; Alwadai, Abdullah; Zifarelli, Giovanni; Karimiani, Ehsan G.; Sedighzadeh, Sahar; Bahreini, Amir; Nouri, Nayereh; Peter, Merlene; Watanabe, Kyoko; van Duyvenvoorde, Hermine A.; Ruivenkamp, Claudia A. L.; Teunissen, Aalbertine K. K.; Ten Harkel, Arend D. J.; van Duinen, Sjoerd G.; Haak, Monique C.; Prada, Carlos E.; Santen, Gijs W. E.; Maroofian, Reza
2022-10-178OAAIKoopmann, Tamara T.; Jamshidi, Yalda; Naghibi-Sistani, Mohammad; van der Klift, Heleen M.; Birjandi, Hassan; Al-Hassnan, Zuhair; Alwadai, Abdullah; Zifarelli, Giovanni; Karimiani, Ehsan G.; Sedighzadeh, Sahar; Bahreini, Amir; Nouri, Nayereh; Peter, Merlene; Watanabe, Kyoko; van Duyvenvoorde, Hermine A.; Ruivenkamp, Claudia A. L.; Teunissen, Aalbertine K. K.; Ten Harkel, Arend D. J.; van Duinen, Sjoerd G.; Haak, Monique C.; Prada, Carlos E.; Santen, Gijs W. E.; Maroofian, Reza分享收藏Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathwaysNATURE COMMUNICATIONS2022-09-0119OAAIYoung, William J.; Lahrouchi, Najim; Isaacs, Aaron; Duong, Thuy Vy; Foco, Luisa; Ahmed, Farah; Brody, Jennifer A.; Salman, Reem; Noordam, Raymond; Benjamins, Jan-Walter; Haessler, Jeffrey; Lyytikainen, Leo-Pekka; Repetto, Linda; Concas, Maria Pina; van den Berg, Marten E.; Weiss, Stefan; Baldassari, Antoine R.; Bartz, Traci M.; Cook, James P.; Evans, Daniel S.; Freudling, Rebecca; Hines, Oliver; Isaksen, Jonas L.; Lin, Honghuang; Mei, Hao; Moscati, Arden; Mueller-Nurasyid, Martina; Nursyifa, Casia; Qian, Yong; Richmond, Anne; Roselli, Carolina; Ryan, Kathleen A.; Tarazona-Santos, Eduardo; Theriault, Sebastien; van Duijvenboden, Stefan; Warren, Helen R.; Yao, Jie; Raza, Dania; Aeschbacher, Stefanie; Ahlberg, Gustav; Alonso, Alvaro; Andreasen, Laura; Bis, Joshua C.; Boerwinkle, Eric; Campbell, Archie; Catamo, Eulalia; Cocca, Massimiliano; Cutler, Michael J.; Darbar, Dawood; De Grandi, Alessandro; De Luca, Antonio; Ding, Jun; Ellervik, Christina; Ellinor, Patrick T.; Felix, Stephan B.; Froguel, Philippe; Fuchsberger, Christian; Gogele, Martin; Graff, Claus; Graff, Mariaelisa; Guo, Xiuqing; Hansen, Torben; Heckbert, Susan R.; Huang, Paul L.; Huikuri, Heikki, V; Hutri-Kahonen, Nina; Ikram, M. Arfan; Jackson, Rebecca D.; Junttila, Juhani; Kavousi, Maryam; Kors, Jan A.; Leal, Thiago P.; Lemaitre, Rozenn N.; Lin, Henry J.; Lind, Lars; Linneberg, Allan; Liu, Simin; MacFarlane, Peter W.; Mangino, Massimo; Meitinger, Thomas; Mezzavilla, Massimo; Mishra, Pashupati P.; Mitchell, Rebecca N.; Mononen, Nina; Montasser, May E.; Morrison, Alanna C.; Nauck, Matthias; Nauffal, Victor; Navarro, Pau; Nikus, Kjell; Pare, Guillaume; Patton, Kristen K.; Pelliccione, Giulia; Pittman, Alan; Porteous, David J.; Pramstaller, Peter P.; Preuss, Michael H.; Raitakari, Olli T.; Reiner, Alexander P.; Ribeiro, Antonio Luiz P.; Rice, Kenneth M.; Risch, Lorenz; Schlessinger, David; Schotten, Ulrich; Schurmann, Claudia; Shen, Xia; Shoemaker, M. Benjamin; Sinagra, Gianfranco; Sinner, Moritz F.; Soliman, Elsayed Z.; Stoll, Monika; Strauch, Konstantin; Tarasov, Kirill; Taylor, Kent D.; Tinker, Andrew; Trompet, Stella; Uitterlinden, Andre; Voelker, Uwe; Voelzke, Henry; Waldenberger, Melanie; Weng, Lu-Chen; Whitsel, Eric A.; Wilson, James G.; Avery, Christy L.; Conen, David; Correa, Adolfo; Cucca, Francesco; Dorr, Marcus; Gharib, Sina A.; Girotto, Giorgia; Grarup, Niels; Hayward, Caroline; Jamshidi, Yalda; Jarvelin, Marjo-Riitta; Jukema, J. Wouter; Kaab, Stefan; Kahonen, Mika; Kanters, Jorgen K.; Kooperberg, Charles; Lehtimaki, Terho; Lima-Costa, Maria Fernanda; Liu, Yongmei; Loos, Ruth J. F.; Lubitz, Steven A.; Mook-Kanamori, Dennis O.; Morris, Andrew P.; O'Connell, Jeffrey R.; Olesen, Morten Salling; Orini, Michele; Padmanabhan, Sandosh; Pattaro, Cristian; Peters, Annette; Psaty, Bruce M.; Rotter, Jerome, I; Stricker, Bruno; van der Harst, Pim; van Duijn, Cornelia M.; Verweij, Niek; Wilson, James F.; Arking, Dan E.; Ramirez, Julia; Lambiase, Pier D.; Sotoodehnia, Nona; Mifsud, Borbala; Newton-Cheh, Christopher; Munroe, Patricia B.
NATURE COMMUNICATIONSIF15.7
2022-09-0119OAAIYoung, William J.; Lahrouchi, Najim; Isaacs, Aaron; Duong, Thuy Vy; Foco, Luisa; Ahmed, Farah; Brody, Jennifer A.; Salman, Reem; Noordam, Raymond; Benjamins, Jan-Walter; Haessler, Jeffrey; Lyytikainen, Leo-Pekka; Repetto, Linda; Concas, Maria Pina; van den Berg, Marten E.; Weiss, Stefan; Baldassari, Antoine R.; Bartz, Traci M.; Cook, James P.; Evans, Daniel S.; Freudling, Rebecca; Hines, Oliver; Isaksen, Jonas L.; Lin, Honghuang; Mei, Hao; Moscati, Arden; Mueller-Nurasyid, Martina; Nursyifa, Casia; Qian, Yong; Richmond, Anne; Roselli, Carolina; Ryan, Kathleen A.; Tarazona-Santos, Eduardo; Theriault, Sebastien; van Duijvenboden, Stefan; Warren, Helen R.; Yao, Jie; Raza, Dania; Aeschbacher, Stefanie; Ahlberg, Gustav; Alonso, Alvaro; Andreasen, Laura; Bis, Joshua C.; Boerwinkle, Eric; Campbell, Archie; Catamo, Eulalia; Cocca, Massimiliano; Cutler, Michael J.; Darbar, Dawood; De Grandi, Alessandro; De Luca, Antonio; Ding, Jun; Ellervik, Christina; Ellinor, Patrick T.; Felix, Stephan B.; Froguel, Philippe; Fuchsberger, Christian; Gogele, Martin; Graff, Claus; Graff, Mariaelisa; Guo, Xiuqing; Hansen, Torben; Heckbert, Susan R.; Huang, Paul L.; Huikuri, Heikki, V; Hutri-Kahonen, Nina; Ikram, M. Arfan; Jackson, Rebecca D.; Junttila, Juhani; Kavousi, Maryam; Kors, Jan A.; Leal, Thiago P.; Lemaitre, Rozenn N.; Lin, Henry J.; Lind, Lars; Linneberg, Allan; Liu, Simin; MacFarlane, Peter W.; Mangino, Massimo; Meitinger, Thomas; Mezzavilla, Massimo; Mishra, Pashupati P.; Mitchell, Rebecca N.; Mononen, Nina; Montasser, May E.; Morrison, Alanna C.; Nauck, Matthias; Nauffal, Victor; Navarro, Pau; Nikus, Kjell; Pare, Guillaume; Patton, Kristen K.; Pelliccione, Giulia; Pittman, Alan; Porteous, David J.; Pramstaller, Peter P.; Preuss, Michael H.; Raitakari, Olli T.; Reiner, Alexander P.; Ribeiro, Antonio Luiz P.; Rice, Kenneth M.; Risch, Lorenz; Schlessinger, David; Schotten, Ulrich; Schurmann, Claudia; Shen, Xia; Shoemaker, M. Benjamin; Sinagra, Gianfranco; Sinner, Moritz F.; Soliman, Elsayed Z.; Stoll, Monika; Strauch, Konstantin; Tarasov, Kirill; Taylor, Kent D.; Tinker, Andrew; Trompet, Stella; Uitterlinden, Andre; Voelker, Uwe; Voelzke, Henry; Waldenberger, Melanie; Weng, Lu-Chen; Whitsel, Eric A.; Wilson, James G.; Avery, Christy L.; Conen, David; Correa, Adolfo; Cucca, Francesco; Dorr, Marcus; Gharib, Sina A.; Girotto, Giorgia; Grarup, Niels; Hayward, Caroline; Jamshidi, Yalda; Jarvelin, Marjo-Riitta; Jukema, J. Wouter; Kaab, Stefan; Kahonen, Mika; Kanters, Jorgen K.; Kooperberg, Charles; Lehtimaki, Terho; Lima-Costa, Maria Fernanda; Liu, Yongmei; Loos, Ruth J. F.; Lubitz, Steven A.; Mook-Kanamori, Dennis O.; Morris, Andrew P.; O'Connell, Jeffrey R.; Olesen, Morten Salling; Orini, Michele; Padmanabhan, Sandosh; Pattaro, Cristian; Peters, Annette; Psaty, Bruce M.; Rotter, Jerome, I; Stricker, Bruno; van der Harst, Pim; van Duijn, Cornelia M.; Verweij, Niek; Wilson, James F.; Arking, Dan E.; Ramirez, Julia; Lambiase, Pier D.; Sotoodehnia, Nona; Mifsud, Borbala; Newton-Cheh, Christopher; Munroe, Patricia B.分享收藏The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice (vol 30, pg 493, 2021)2022-08-190OAAIForzano, Francesca; Antonova, Olga; Clarke, Angus; de Wert, Guido; Hentze, Sabine; Jamshidi, Yalda; Moreau, Yves; Perola, Markus; Prokopenko, Inga; Read, Andrew; Reymond, Alexandre; Stefansdottir, Vigdis; van El, Carla; Genuardi, Maurizio
2022-08-190OAAIForzano, Francesca; Antonova, Olga; Clarke, Angus; de Wert, Guido; Hentze, Sabine; Jamshidi, Yalda; Moreau, Yves; Perola, Markus; Prokopenko, Inga; Read, Andrew; Reymond, Alexandre; Stefansdottir, Vigdis; van El, Carla; Genuardi, Maurizio分享收藏Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic ParaplegiaANNALS OF NEUROLOGY2022-05-284
OAAICalame, Daniel G.; Herman, Isabella; Maroofian, Reza; Marshall, Aren E.; Donis, Karina Carvalho; Fatih, Jawid M.; Mitani, Tadahiro; Du, Haowei; Grochowski, Christopher M.; Sousa, Sergio B.; Gijavanekar, Charul; Bakhtiari, Somayeh; Ito, Yoko A.; Rocca, Clarissa; Hunter, Jill, V; Sutton, V. Reid; Emrick, Lisa T.; Boycott, Kym M.; Lossos, Alexander; Fellig, Yakov; Prus, Eugenia; Kalish, Yosef; Meiner, Vardiella; Suerink, Manon; Ruivenkamp, Claudia; Muirhead, Kayla; Saadi, Nebal W.; Zaki, Maha S.; Bouman, Arjan; Barakat, Tahsin Stefan; Skidmore, David L.; Osmond, Matthew; Silva, Thiago Oliveira; Murphy, David; Karimiani, Ehsan Ghayoor; Jamshidi, Yalda; Jaddoa, Asaad Ghanim; Tajsharghi, Homa; Jin, Sheng Chih; Abbaszadegan, Mohammad Reza; Ebrahimzadeh-Vesal, Reza; Hosseini, Susan; Alavi, Shahryar; Bahreini, Amir; Zarean, Elahe; Salehi, Mohammad Mehdi; Al-Sannaa, Nouriya Abbas; Zifarelli, Giovanni; Bauer, Peter; Robson, Simon C.; Coban-Akdemir, Zeynep; Travaglini, Lorena; Nicita, Francesco; Jhangiani, Shalini N.; Gibbs, Richard A.; Posey, Jennifer E.; Kruer, Michael C.; Kernohan, Kristin D.; Morales Saute, Jonas A.; Houlden, Henry; Vanderver, Adeline; Elsea, Sarah H.; Pehlivan, Davut; Marafi, Dana; Lupski, James R.
ANNALS OF NEUROLOGYIF7.7
2022-05-284OAAICalame, Daniel G.; Herman, Isabella; Maroofian, Reza; Marshall, Aren E.; Donis, Karina Carvalho; Fatih, Jawid M.; Mitani, Tadahiro; Du, Haowei; Grochowski, Christopher M.; Sousa, Sergio B.; Gijavanekar, Charul; Bakhtiari, Somayeh; Ito, Yoko A.; Rocca, Clarissa; Hunter, Jill, V; Sutton, V. Reid; Emrick, Lisa T.; Boycott, Kym M.; Lossos, Alexander; Fellig, Yakov; Prus, Eugenia; Kalish, Yosef; Meiner, Vardiella; Suerink, Manon; Ruivenkamp, Claudia; Muirhead, Kayla; Saadi, Nebal W.; Zaki, Maha S.; Bouman, Arjan; Barakat, Tahsin Stefan; Skidmore, David L.; Osmond, Matthew; Silva, Thiago Oliveira; Murphy, David; Karimiani, Ehsan Ghayoor; Jamshidi, Yalda; Jaddoa, Asaad Ghanim; Tajsharghi, Homa; Jin, Sheng Chih; Abbaszadegan, Mohammad Reza; Ebrahimzadeh-Vesal, Reza; Hosseini, Susan; Alavi, Shahryar; Bahreini, Amir; Zarean, Elahe; Salehi, Mohammad Mehdi; Al-Sannaa, Nouriya Abbas; Zifarelli, Giovanni; Bauer, Peter; Robson, Simon C.; Coban-Akdemir, Zeynep; Travaglini, Lorena; Nicita, Francesco; Jhangiani, Shalini N.; Gibbs, Richard A.; Posey, Jennifer E.; Kruer, Michael C.; Kernohan, Kristin D.; Morales Saute, Jonas A.; Houlden, Henry; Vanderver, Adeline; Elsea, Sarah H.; Pehlivan, Davut; Marafi, Dana; Lupski, James R.分享收藏The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice在植入前基因检测中使用多基因风险评分: 未经证实的，不道德的做法2021-12-1753OAAIForzano, Francesca; Antonova, Olga; Clarke, Angus; de Wert, Guido; Hentze, Sabine; Jamshidi, Yalda; Moreau, Yves; Perola, Markus; Prokopenko, Inga; Read, Andrew; Reymond, Alexandre; Stefansdottir, Vigdis; van El, Carla; Genuardi, Maurizio
2021-12-1753OAAIForzano, Francesca; Antonova, Olga; Clarke, Angus; de Wert, Guido; Hentze, Sabine; Jamshidi, Yalda; Moreau, Yves; Perola, Markus; Prokopenko, Inga; Read, Andrew; Reymond, Alexandre; Stefansdottir, Vigdis; van El, Carla; Genuardi, Maurizio分享收藏Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3GENETICS IN MEDICINE2021-04-0117OAAIOsborn, Daniel Peter Sayer; Emrahi, Leila; Clayton, Joshua; Tabrizi, Mehrnoush Toufan; Wan, Alex Yui Bong; Maroofian, Reza; Yazdchi, Mohammad; Garcia, Michael Leon Enrique; Galehdari, Hamid; Hesse, Camila; Shariati, Gholamreza; Mazaheri, Neda; Sedaghat, Alireza; Goullee, Hayley; Laing, Nigel; Jamshidi, Yalda; Tajsharghi, Homa
GENETICS IN MEDICINEIF6.2
2021-04-0117OAAIOsborn, Daniel Peter Sayer; Emrahi, Leila; Clayton, Joshua; Tabrizi, Mehrnoush Toufan; Wan, Alex Yui Bong; Maroofian, Reza; Yazdchi, Mohammad; Garcia, Michael Leon Enrique; Galehdari, Hamid; Hesse, Camila; Shariati, Gholamreza; Mazaheri, Neda; Sedaghat, Alireza; Goullee, Hayley; Laing, Nigel; Jamshidi, Yalda; Tajsharghi, Homa分享收藏Genome-wide association study of circulating interleukin 6 levels identifies novel loci循环白细胞介素6水平的全基因组关联研究鉴定新基因座2021-01-3037OAAIAhluwalia, Tarunveer S.; Prins, Bram P.; Abdollahi, Mohammadreza; Armstrong, Nicola J.; Aslibekyan, Stella; Bain, Lisa; Jefferis, Barbara; Baumert, Jens; Beekman, Marian; Ben-Shlomo, Yoav; Bis, Joshua C.; Mitchell, Braxton D.; de Geus, Eco; Delgado, Graciela E.; Marek, Diana; Eriksson, Joel; Kajantie, Eero; Kanoni, Stavroula; Kemp, John P.; Lu, Chen; Marioni, Riccardo E.; McLachlan, Stela; Milaneschi, Yuri; Nolte, Ilja M.; Petrelis, Alexandros M.; Porcu, Eleonora; Sabater-Lleal, Maria; Naderi, Elnaz; Seppala, Ilkka; Shah, Tina; Singhal, Gaurav; Standl, Marie; Teumer, Alexander; Thalamuthu, Anbupalam; Thiering, Elisabeth; Trompet, Stella; Ballantyne, Christie M.; Benjamin, Emelia J.; Casas, Juan P.; Toben, Catherine; Dedoussis, George; Deelen, Joris; Durda, Peter; Engmann, Jorgen; Feitosa, Mary F.; Grallert, Harald; Hammarstedt, Ann; Harris, Sarah E.; Homuth, Georg; Hottenga, Jouke-Jan; Jalkanen, Sirpa; Jamshidi, Yalda; Jawahar, Magdalene C.; Jess, Tine; Kivimaki, Mika; Kleber, Marcus E.; Lahti, Jari; Liu, Yongmei; Marques-Vidal, Pedro; Mellstrom, Dan; Mooijaart, Simon P.; Muller-Nurasyid, Martina; Penninx, Brenda; Revez, Joana A.; Rossing, Peter; Raikkonen, Katri; Sattar, Naveed; Scharnagl, Hubert; Sennblad, Bengt; Silveira, Angela; St Pourcain, Beate; Timpson, Nicholas J.; Trollor, Julian; van Dongen, Jenny; Van Heemst, Diana; Visvikis-Siest, Sophie; Vollenweider, Peter; Volker, Uwe; Waldenberger, Melanie; Willemsen, Gonneke; Zabaneh, Delilah; Morris, Richard W.; Arnett, Donna K.; Baune, Bernhard T.; Boomsma, Dorret, I; Chang, Yen-Pei C.; Deary, Ian J.; Deloukas, Panos; Eriksson, Johan G.; Evans, David M.; Ferreira, Manuel A.; Gaunt, Tom; Gudnason, Vilmundur; Hamsten, Anders; Heinrich, Joachim; Hingorani, Aroon; Humphries, Steve E.; Jukema, J. Wouter; Koenig, Wolfgang; Kumari, Meena; Kutalik, Zoltan; Lawlor, Deborah A.; Lehtimaki, Terho; Marz, Winfried; Mather, Karen A.; Naitza, Silvia; Nauck, Matthias; Ohlsson, Claes; Price, Jackie F.; Raitakari, Olli; Rice, Ken; Sachdev, Perminder S.; Slagboom, Eline; Sorensen, Thorkild I. A.; Spector, Tim; Stacey, David; Stathopoulou, Maria G.; Tanaka, Toshiko; Wannamethee, S. Goya; Whincup, Peter; Rotter, Jerome, I; Dehghan, Abbas; Boerwinkle, Eric; Psaty, Bruce M.; Snieder, Harold; Alizadeh, Behrooz Z.
2021-01-3037OAAIAhluwalia, Tarunveer S.; Prins, Bram P.; Abdollahi, Mohammadreza; Armstrong, Nicola J.; Aslibekyan, Stella; Bain, Lisa; Jefferis, Barbara; Baumert, Jens; Beekman, Marian; Ben-Shlomo, Yoav; Bis, Joshua C.; Mitchell, Braxton D.; de Geus, Eco; Delgado, Graciela E.; Marek, Diana; Eriksson, Joel; Kajantie, Eero; Kanoni, Stavroula; Kemp, John P.; Lu, Chen; Marioni, Riccardo E.; McLachlan, Stela; Milaneschi, Yuri; Nolte, Ilja M.; Petrelis, Alexandros M.; Porcu, Eleonora; Sabater-Lleal, Maria; Naderi, Elnaz; Seppala, Ilkka; Shah, Tina; Singhal, Gaurav; Standl, Marie; Teumer, Alexander; Thalamuthu, Anbupalam; Thiering, Elisabeth; Trompet, Stella; Ballantyne, Christie M.; Benjamin, Emelia J.; Casas, Juan P.; Toben, Catherine; Dedoussis, George; Deelen, Joris; Durda, Peter; Engmann, Jorgen; Feitosa, Mary F.; Grallert, Harald; Hammarstedt, Ann; Harris, Sarah E.; Homuth, Georg; Hottenga, Jouke-Jan; Jalkanen, Sirpa; Jamshidi, Yalda; Jawahar, Magdalene C.; Jess, Tine; Kivimaki, Mika; Kleber, Marcus E.; Lahti, Jari; Liu, Yongmei; Marques-Vidal, Pedro; Mellstrom, Dan; Mooijaart, Simon P.; Muller-Nurasyid, Martina; Penninx, Brenda; Revez, Joana A.; Rossing, Peter; Raikkonen, Katri; Sattar, Naveed; Scharnagl, Hubert; Sennblad, Bengt; Silveira, Angela; St Pourcain, Beate; Timpson, Nicholas J.; Trollor, Julian; van Dongen, Jenny; Van Heemst, Diana; Visvikis-Siest, Sophie; Vollenweider, Peter; Volker, Uwe; Waldenberger, Melanie; Willemsen, Gonneke; Zabaneh, Delilah; Morris, Richard W.; Arnett, Donna K.; Baune, Bernhard T.; Boomsma, Dorret, I; Chang, Yen-Pei C.; Deary, Ian J.; Deloukas, Panos; Eriksson, Johan G.; Evans, David M.; Ferreira, Manuel A.; Gaunt, Tom; Gudnason, Vilmundur; Hamsten, Anders; Heinrich, Joachim; Hingorani, Aroon; Humphries, Steve E.; Jukema, J. Wouter; Koenig, Wolfgang; Kumari, Meena; Kutalik, Zoltan; Lawlor, Deborah A.; Lehtimaki, Terho; Marz, Winfried; Mather, Karen A.; Naitza, Silvia; Nauck, Matthias; Ohlsson, Claes; Price, Jackie F.; Raitakari, Olli; Rice, Ken; Sachdev, Perminder S.; Slagboom, Eline; Sorensen, Thorkild I. A.; Spector, Tim; Stacey, David; Stathopoulou, Maria G.; Tanaka, Toshiko; Wannamethee, S. Goya; Whincup, Peter; Rotter, Jerome, I; Dehghan, Abbas; Boerwinkle, Eric; Psaty, Bruce M.; Snieder, Harold; Alizadeh, Behrooz Z.分享收藏De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects2020-08-0144OAAIManole, Andreea; Efthymiou, Stephanie; O'Connor, Emer; Mendes, Marisa, I; Jennings, Matthew; Maroofian, Reza; Davagnanam, Indran; Mankad, Kshitij; Lopez, Maria Rodriguez; Salpietro, Vincenzo; Harripaul, Ricardo; Badalato, Lauren; Walia, Jagdeep; Francklyn, Christopher S.; Athanasiou-Fragkouli, Alkyoni; Sullivan, Roisin; Desai, Sonal; Baranano, Kristin; Zafar, Faisal; Rana, Nuzhat; Ilyas, Muhammed; Horga, Alejandro; Kara, Majdi; Mattioli, Francesca; Goldenberg, Alice; Griffin, Helen; Piton, Amelie; Henderson, Lindsay B.; Kara, Benyekhlef; Aslanger, Ayca Dilruba; Raaphorst, Joost; Pfundt, Rolph; Portier, Ruben; Shinawi, Marwan; Kirby, Amelia; Christensen, Katherine M.; Wang, Lu; Rosti, Rasim O.; Paracha, Sohail A.; Sarwar, Muhammad T.; Jenkins, Dagan; Ahmed, Jawad; Santoni, Federico A.; Ranza, Emmanuelle; Iwaszkiewicz, Justyna; Cytrynbaum, Cheryl; Weksberg, Rosanna; Wentzensen, Ingrid M.; Sacoto, Maria J. Guillen; Si, Yue; Telegrafi, Aida; Andrews, Marisa, V; Baldridge, Dustin; Gabriel, Heinz; Mohr, Julia; Oehl-Jaschkowitz, Barbara; Debard, Sylvain; Senger, Bruno; Fischer, Frederic; van Ravenwaaij, Conny; Fock, Annemarie J. M.; Stevens, Servi J. C.; Bahler, Jurg; Nasar, Amina; Mantovani, John F.; Manzur, Adnan; Sarkozy, Anna; Smith, Desiree E. C.; Salomons, Gajja S.; Ahmed, Zubair M.; Riazuddin, Shaikh; Riazuddin, Saima; Usmani, Muhammad A.; Seibt, Annette; Ansar, Muhammad; Antonarakis, Stylianos E.; Vincent, John B.; Ayub, Muhammad; Grimmel, Mona; Jelsig, Anne Marie; Hjortshoj, Tina Duelund; Karstensen, Helena Gasdal; Hummel, Marybeth; Haack, Tobias B.; Jamshidi, Yalda; Distelmaier, Felix; Horvath, Rita; Gleeson, Joseph G.; Becker, Hubert; Mandel, Jean-Louis; Koolen, David A.; Houlden, Henry
2020-08-0144OAAIManole, Andreea; Efthymiou, Stephanie; O'Connor, Emer; Mendes, Marisa, I; Jennings, Matthew; Maroofian, Reza; Davagnanam, Indran; Mankad, Kshitij; Lopez, Maria Rodriguez; Salpietro, Vincenzo; Harripaul, Ricardo; Badalato, Lauren; Walia, Jagdeep; Francklyn, Christopher S.; Athanasiou-Fragkouli, Alkyoni; Sullivan, Roisin; Desai, Sonal; Baranano, Kristin; Zafar, Faisal; Rana, Nuzhat; Ilyas, Muhammed; Horga, Alejandro; Kara, Majdi; Mattioli, Francesca; Goldenberg, Alice; Griffin, Helen; Piton, Amelie; Henderson, Lindsay B.; Kara, Benyekhlef; Aslanger, Ayca Dilruba; Raaphorst, Joost; Pfundt, Rolph; Portier, Ruben; Shinawi, Marwan; Kirby, Amelia; Christensen, Katherine M.; Wang, Lu; Rosti, Rasim O.; Paracha, Sohail A.; Sarwar, Muhammad T.; Jenkins, Dagan; Ahmed, Jawad; Santoni, Federico A.; Ranza, Emmanuelle; Iwaszkiewicz, Justyna; Cytrynbaum, Cheryl; Weksberg, Rosanna; Wentzensen, Ingrid M.; Sacoto, Maria J. Guillen; Si, Yue; Telegrafi, Aida; Andrews, Marisa, V; Baldridge, Dustin; Gabriel, Heinz; Mohr, Julia; Oehl-Jaschkowitz, Barbara; Debard, Sylvain; Senger, Bruno; Fischer, Frederic; van Ravenwaaij, Conny; Fock, Annemarie J. M.; Stevens, Servi J. C.; Bahler, Jurg; Nasar, Amina; Mantovani, John F.; Manzur, Adnan; Sarkozy, Anna; Smith, Desiree E. C.; Salomons, Gajja S.; Ahmed, Zubair M.; Riazuddin, Shaikh; Riazuddin, Saima; Usmani, Muhammad A.; Seibt, Annette; Ansar, Muhammad; Antonarakis, Stylianos E.; Vincent, John B.; Ayub, Muhammad; Grimmel, Mona; Jelsig, Anne Marie; Hjortshoj, Tina Duelund; Karstensen, Helena Gasdal; Hummel, Marybeth; Haack, Tobias B.; Jamshidi, Yalda; Distelmaier, Felix; Horvath, Rita; Gleeson, Joseph G.; Becker, Hubert; Mandel, Jean-Louis; Koolen, David A.; Houlden, Henry分享收藏Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variantsBRAIN2020-07-230OAAINeuray, Caroline; Maroofian, Reza; Scala, Marcello; Sultan, Tipu; Pai, Gurpur S.; Mojarrad, Majid; El Khashab, Heba; deHoll, Leigh; Yue, Wyatt; Alsaif, Hessa S.; Zanetti, Maria N.; Bello, Oscar; Person, Richard; Eslahi, Atieh; Khazaei, Zaynab; Feizabadi, Masoumeh H.; Efthymiou, Stephanie; El-Bassyouni, Hala T.; Soliman, Doaa R.; Tekes, Selahattin; Ozer, Leyla; Baltaci, Volkan; Khan, Suliman; Beetz, Christian; Amr, Khalda S.; Salpietro, Vincenzo; Jamshidi, Yalda; Alkuraya, Fowzan S.; Houlden, Henry
BRAINIF11.7
2020-07-230OAAINeuray, Caroline; Maroofian, Reza; Scala, Marcello; Sultan, Tipu; Pai, Gurpur S.; Mojarrad, Majid; El Khashab, Heba; deHoll, Leigh; Yue, Wyatt; Alsaif, Hessa S.; Zanetti, Maria N.; Bello, Oscar; Person, Richard; Eslahi, Atieh; Khazaei, Zaynab; Feizabadi, Masoumeh H.; Efthymiou, Stephanie; El-Bassyouni, Hala T.; Soliman, Doaa R.; Tekes, Selahattin; Ozer, Leyla; Baltaci, Volkan; Khan, Suliman; Beetz, Christian; Amr, Khalda S.; Salpietro, Vincenzo; Jamshidi, Yalda; Alkuraya, Fowzan S.; Houlden, Henry分享收藏BiallelicMFSD2Avariants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features2020-06-2216OAAIScala, Marcello; Chua, Geok Lin; Chin, Cheen Fei; Alsaif, Hessa S.; Borovikov, Artem; Riazuddin, Saima; Riazuddin, Sheikh; Manzini, M. Chiara; Severino, Mariasavina; Kuk, Alvin; Fan, Hao; Jamshidi, Yalda; Toosi, Mehran Beiraghi; Doosti, Mohammad; Karimiani, Ehsan Ghayoor; Salpietro, Vincenzo; Dadali, Elena; Baydakova, Galina; Konovalov, Fedor; Lozier, Ekaterina; O'Connor, Emer; Sabr, Yasser; Alfaifi, Abdullah; Ashrafzadeh, Farah; Striano, Pasquale; Zara, Federico; Alkuraya, Fowzan S.; Houlden, Henry; Maroofian, Reza; Silver, David L.
2020-06-2216OAAIScala, Marcello; Chua, Geok Lin; Chin, Cheen Fei; Alsaif, Hessa S.; Borovikov, Artem; Riazuddin, Saima; Riazuddin, Sheikh; Manzini, M. Chiara; Severino, Mariasavina; Kuk, Alvin; Fan, Hao; Jamshidi, Yalda; Toosi, Mehran Beiraghi; Doosti, Mohammad; Karimiani, Ehsan Ghayoor; Salpietro, Vincenzo; Dadali, Elena; Baydakova, Galina; Konovalov, Fedor; Lozier, Ekaterina; O'Connor, Emer; Sabr, Yasser; Alfaifi, Abdullah; Ashrafzadeh, Farah; Striano, Pasquale; Zara, Federico; Alkuraya, Fowzan S.; Houlden, Henry; Maroofian, Reza; Silver, David L.分享收藏Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conductionNATURE COMMUNICATIONS2020-05-2155OAAINtalla, Ioanna; Weng, Lu-Chen; Cartwright, James H.; Hall, Amelia Weber; Sveinbjornsson, Gardar; Tucker, Nathan R.; Choi, Seung Hoan; Chaffin, Mark D.; Roselli, Carolina; Barnes, Michael R.; Mifsud, Borbala; Warren, Helen R.; Hayward, Caroline; Marten, Jonathan; Cranley, James J.; Concas, Maria Pina; Gasparini, Paolo; Boutin, Thibaud; Kolcic, Ivana; Polasek, Ozren; Rudan, Igor; Araujo, Nathalia M.; Lima-Costa, Maria Fernanda; Ribeiro, Antonio Luiz P.; Souza, Renan P.; Tarazona-Santos, Eduardo; Giedraitis, Vilmantas; Ingelsson, Erik; Mahajan, Anubha; Morris, Andrew P.; Del Greco, Fabiola M.; Foco, Luisa; Gogele, Martin; Hicks, Andrew A.; Cook, James P.; Lind, Lars; Lindgren, Cecilia M.; Sundstrom, Johan; Nelson, Christopher P.; Riaz, Muhammad B.; Samani, Nilesh J.; Sinagra, Gianfranco; Ulivi, Sheila; Kahonen, Mika; Mishra, Pashupati P.; Mononen, Nina; Nikus, Kjell; Caulfield, Mark J.; Dominiczak, Anna; Padmanabhan, Sandosh; Montasser, May E.; O'Connell, Jeff R.; Ryan, Kathleen; Shuldiner, Alan R.; Aeschbacher, Stefanie; Conen, David; Risch, Lorenz; Theriault, Sebastien; Hutri-Kahonen, Nina; Lehtimaki, Terho; Lyytikainen, Leo-Pekka; Raitakari, Olli T.; Barnes, Catriona L. K.; Campbell, Harry; Joshi, Peter K.; Wilson, James F.; Isaacs, Aaron; Kors, Jan A.; van Duijn, Cornelia M.; Huang, Paul L.; Gudnason, Vilmundur; Harris, Tamara B.; Launer, Lenore J.; Smith, Albert, V; Bottinger, Erwin P.; Loos, Ruth J. F.; Nadkarni, Girish N.; Preuss, Michael H.; Correa, Adolfo; Mei, Hao; Wilson, James; Meitinger, Thomas; Mueller-Nurasyid, Martina; Peters, Annette; Waldenberger, Melanie; Mangino, Massimo; Spector, Timothy D.; Rienstra, Michiel; van de Vegte, Yordi J.; van der Harst, Pim; Verweij, Niek; Kaab, Stefan; Schramm, Katharina; Sinner, Moritz F.; Strauch, Konstantin; Cutler, Michael J.; Fatkin, Diane; London, Barry; Olesen, Morten; Roden, Dan M.; Shoemaker, M. Benjamin; Smith, J. Gustav; Biggs, Mary L.; Bis, Joshua C.; Brody, Jennifer A.; Psaty, Bruce M.; Rice, Kenneth; Sotoodehnia, Nona; De Grandi, Alessandro; Fuchsberger, Christian; Pattaro, Cristian; Pramstaller, Peter P.; Ford, Ian; Jukema, J. Wouter; Macfarlane, Peter W.; Trompet, Stella; Doerr, Marcus; Felix, Stephan B.; Voelker, Uwe; Weiss, Stefan; Havulinna, Aki S.; Jula, Antti; Saaksjarvi, Katri; Salomaa, Veikko; Guo, Xiuqing; Heckbert, Susan R.; Lin, Henry J.; Rotter, Jerome, I; Taylor, Kent D.; Yao, Jie; de Mutsert, Renee; Maan, Arie C.; Mook-Kanamori, Dennis O.; Noordam, Raymond; Cucca, Francesco; Ding, Jun; Lakatta, Edward G.; Qian, Yong; Tarasov, Kirill, V; Levy, Daniel; Lin, Honghuang; Newton-Cheh, Christopher H.; Lunetta, Kathryn L.; Murray, Alison D.; Porteous, David J.; Smith, Blair H.; Stricker, Bruno H.; Uitterlinden, Andre; van den Berg, Marten E.; Haessler, Jeffrey; Jackson, Rebecca D.; Kooperberg, Charles; Peters, Ulrike; Reiner, Alexander P.; Whitsel, Eric A.; Alonso, Alvaro; Arking, Dan E.; Boerwinkle, Eric; Ehret, Georg B.; Soliman, Elsayed Z.; Avery, Christy L.; Gogarten, Stephanie M.; Kerr, Kathleen F.; Laurie, Cathy C.; Seyerle, Amanda A.; Stilp, Adrienne; Assa, Solmaz; Said, M. Abdullah; van der Ende, M. Yldau; Lambiase, Pier D.; Orini, Michele; Ramirez, Julia; Van Duijvenboden, Stefan; Arnar, David O.; Gudbjartsson, Daniel F.; Holm, Hilma; Sulem, Patrick; Thorleifsson, Gudmar; Thorolfsdottir, Rosa B.; Thorsteinsdottir, Unnur; Benjamin, Emelia J.; Tinker, Andrew; Stefansson, Kari; Ellinor, Patrick T.; Jamshidi, Yalda; Lubitz, Steven A.; Munroe, Patricia B.
NATURE COMMUNICATIONSIF15.7
2020-05-2155OAAINtalla, Ioanna; Weng, Lu-Chen; Cartwright, James H.; Hall, Amelia Weber; Sveinbjornsson, Gardar; Tucker, Nathan R.; Choi, Seung Hoan; Chaffin, Mark D.; Roselli, Carolina; Barnes, Michael R.; Mifsud, Borbala; Warren, Helen R.; Hayward, Caroline; Marten, Jonathan; Cranley, James J.; Concas, Maria Pina; Gasparini, Paolo; Boutin, Thibaud; Kolcic, Ivana; Polasek, Ozren; Rudan, Igor; Araujo, Nathalia M.; Lima-Costa, Maria Fernanda; Ribeiro, Antonio Luiz P.; Souza, Renan P.; Tarazona-Santos, Eduardo; Giedraitis, Vilmantas; Ingelsson, Erik; Mahajan, Anubha; Morris, Andrew P.; Del Greco, Fabiola M.; Foco, Luisa; Gogele, Martin; Hicks, Andrew A.; Cook, James P.; Lind, Lars; Lindgren, Cecilia M.; Sundstrom, Johan; Nelson, Christopher P.; Riaz, Muhammad B.; Samani, Nilesh J.; Sinagra, Gianfranco; Ulivi, Sheila; Kahonen, Mika; Mishra, Pashupati P.; Mononen, Nina; Nikus, Kjell; Caulfield, Mark J.; Dominiczak, Anna; Padmanabhan, Sandosh; Montasser, May E.; O'Connell, Jeff R.; Ryan, Kathleen; Shuldiner, Alan R.; Aeschbacher, Stefanie; Conen, David; Risch, Lorenz; Theriault, Sebastien; Hutri-Kahonen, Nina; Lehtimaki, Terho; Lyytikainen, Leo-Pekka; Raitakari, Olli T.; Barnes, Catriona L. K.; Campbell, Harry; Joshi, Peter K.; Wilson, James F.; Isaacs, Aaron; Kors, Jan A.; van Duijn, Cornelia M.; Huang, Paul L.; Gudnason, Vilmundur; Harris, Tamara B.; Launer, Lenore J.; Smith, Albert, V; Bottinger, Erwin P.; Loos, Ruth J. F.; Nadkarni, Girish N.; Preuss, Michael H.; Correa, Adolfo; Mei, Hao; Wilson, James; Meitinger, Thomas; Mueller-Nurasyid, Martina; Peters, Annette; Waldenberger, Melanie; Mangino, Massimo; Spector, Timothy D.; Rienstra, Michiel; van de Vegte, Yordi J.; van der Harst, Pim; Verweij, Niek; Kaab, Stefan; Schramm, Katharina; Sinner, Moritz F.; Strauch, Konstantin; Cutler, Michael J.; Fatkin, Diane; London, Barry; Olesen, Morten; Roden, Dan M.; Shoemaker, M. Benjamin; Smith, J. Gustav; Biggs, Mary L.; Bis, Joshua C.; Brody, Jennifer A.; Psaty, Bruce M.; Rice, Kenneth; Sotoodehnia, Nona; De Grandi, Alessandro; Fuchsberger, Christian; Pattaro, Cristian; Pramstaller, Peter P.; Ford, Ian; Jukema, J. Wouter; Macfarlane, Peter W.; Trompet, Stella; Doerr, Marcus; Felix, Stephan B.; Voelker, Uwe; Weiss, Stefan; Havulinna, Aki S.; Jula, Antti; Saaksjarvi, Katri; Salomaa, Veikko; Guo, Xiuqing; Heckbert, Susan R.; Lin, Henry J.; Rotter, Jerome, I; Taylor, Kent D.; Yao, Jie; de Mutsert, Renee; Maan, Arie C.; Mook-Kanamori, Dennis O.; Noordam, Raymond; Cucca, Francesco; Ding, Jun; Lakatta, Edward G.; Qian, Yong; Tarasov, Kirill, V; Levy, Daniel; Lin, Honghuang; Newton-Cheh, Christopher H.; Lunetta, Kathryn L.; Murray, Alison D.; Porteous, David J.; Smith, Blair H.; Stricker, Bruno H.; Uitterlinden, Andre; van den Berg, Marten E.; Haessler, Jeffrey; Jackson, Rebecca D.; Kooperberg, Charles; Peters, Ulrike; Reiner, Alexander P.; Whitsel, Eric A.; Alonso, Alvaro; Arking, Dan E.; Boerwinkle, Eric; Ehret, Georg B.; Soliman, Elsayed Z.; Avery, Christy L.; Gogarten, Stephanie M.; Kerr, Kathleen F.; Laurie, Cathy C.; Seyerle, Amanda A.; Stilp, Adrienne; Assa, Solmaz; Said, M. Abdullah; van der Ende, M. Yldau; Lambiase, Pier D.; Orini, Michele; Ramirez, Julia; Van Duijvenboden, Stefan; Arnar, David O.; Gudbjartsson, Daniel F.; Holm, Hilma; Sulem, Patrick; Thorleifsson, Gudmar; Thorolfsdottir, Rosa B.; Thorsteinsdottir, Unnur; Benjamin, Emelia J.; Tinker, Andrew; Stefansson, Kari; Ellinor, Patrick T.; Jamshidi, Yalda; Lubitz, Steven A.; Munroe, Patricia B.分享收藏KCND3 potassium channel gene variant confers susceptibility to electrocardiographic early repolarization patternJCI INSIGHT2019-12-0513OAAITeumer, Alexander; Trenkwalder, Teresa; Kessler, Thorsten; Jamshidi, Yalda; van den Berg, Marten E.; Kaess, Bernhard; Nelson, Christopher P.; Bastiaenen, Rachel; De Bortoli, Marzia; Rossini, Alessandra; Deisenhofer, Isabel; Stark, Klaus; Assa, Solmaz; Braund, Peter S.; Cabrera, Claudia; Dominiczak, Anna F.; Gogele, Martin; Hall, Leanne M.; Ikram, M. Arfan; Kavousi, Maryam; Lackner, Karl J.; Mueller, Christian; Muenzel, Thomas; Nauck, Matthias; Padmanabhan, Sandosh; Pfeiffer, Norbert; Spector, Tim D.; Uitterlinden, Andre G.; Verweij, Niek; Voelker, Uwe; Warren, Helen R.; Zafar, Mobeen; Felix, Stephan B.; Kors, Jan A.; Snieder, Harold; Munroe, Patricia B.; Pattaro, Cristian; Fuchsberger, Christian; Schmidt, Georg; Nolte, Ilja M.; Schunkert, Heribert; Pramstaller, Peter P.; Wild, Philipp S.; van Der Harst, Pim; Stricker, Bruno H.; Schnabel, Renate B.; Samani, Nilesh J.; Hengstenberg, Christian; Doerr, Marcus; Behr, Elijah R.; Reinhard, Wibke
JCI INSIGHTIF6.1
2019-12-0513OAAITeumer, Alexander; Trenkwalder, Teresa; Kessler, Thorsten; Jamshidi, Yalda; van den Berg, Marten E.; Kaess, Bernhard; Nelson, Christopher P.; Bastiaenen, Rachel; De Bortoli, Marzia; Rossini, Alessandra; Deisenhofer, Isabel; Stark, Klaus; Assa, Solmaz; Braund, Peter S.; Cabrera, Claudia; Dominiczak, Anna F.; Gogele, Martin; Hall, Leanne M.; Ikram, M. Arfan; Kavousi, Maryam; Lackner, Karl J.; Mueller, Christian; Muenzel, Thomas; Nauck, Matthias; Padmanabhan, Sandosh; Pfeiffer, Norbert; Spector, Tim D.; Uitterlinden, Andre G.; Verweij, Niek; Voelker, Uwe; Warren, Helen R.; Zafar, Mobeen; Felix, Stephan B.; Kors, Jan A.; Snieder, Harold; Munroe, Patricia B.; Pattaro, Cristian; Fuchsberger, Christian; Schmidt, Georg; Nolte, Ilja M.; Schunkert, Heribert; Pramstaller, Peter P.; Wild, Philipp S.; van Der Harst, Pim; Stricker, Bruno H.; Schnabel, Renate B.; Samani, Nilesh J.; Hengstenberg, Christian; Doerr, Marcus; Behr, Elijah R.; Reinhard, Wibke分享收藏