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Eric Haan
tel aviv sourasky medical center
73H指数
312论文数
2.1W被引数
收录论文 81
发表时间
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Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant.png)
2023-02-01
15
OAAI
Hoorntje, Edgar T.; Burns, Charlotte; Marsili, Luisa; Corden, Ben; Parikh, Victoria N.; te Meerman, Gerard J.; Gray, Belinda; Adiyaman, Ahmet; Bagnall, Richard D.; Barge-Schaapveld, Daniela Q. C. M.; van den Berg, Maarten P.; Bootsma, Marianne; Bosman, Laurens P.; Correnti, Gemma; Duflou, Johan; Eppinga, Ruben N.; Fatkin, Diane; Fietz, Michael; Haan, Eric; Jongbloed, Jan D. H.; Hauer, Arnaud D.; Lam, Lien; van Lint, Freyja H. M.; Lota, Amrit; Marcelis, Carlo; McCarthy, Hugh J.; van Mil, Anneke M.; Oldenburg, Rogier A.; Pachter, Nicholas; Planken, R. Nils; Reuter, Chloe; Semsarian, Christopher; van der Smagt, Jasper J.; Thompson, Tina; Vohra, Jitendra; Volders, Paul G. A.; van Waning, Jaap I.; Whiffin, Nicola; van den Wijngaard, Arthur; Amin, Ahmad S.; Wilde, Arthur A. M.; van Woerden, Gijs; Yeates, Laura; Zentner, Dominica; Ashley, Euan A.; Wheeler, Matthew T.; Ware, James S.; van Tintelen, J. Peter; Ingles, Jodie
2023-02-0115OAAIHoorntje, Edgar T.; Burns, Charlotte; Marsili, Luisa; Corden, Ben; Parikh, Victoria N.; te Meerman, Gerard J.; Gray, Belinda; Adiyaman, Ahmet; Bagnall, Richard D.; Barge-Schaapveld, Daniela Q. C. M.; van den Berg, Maarten P.; Bootsma, Marianne; Bosman, Laurens P.; Correnti, Gemma; Duflou, Johan; Eppinga, Ruben N.; Fatkin, Diane; Fietz, Michael; Haan, Eric; Jongbloed, Jan D. H.; Hauer, Arnaud D.; Lam, Lien; van Lint, Freyja H. M.; Lota, Amrit; Marcelis, Carlo; McCarthy, Hugh J.; van Mil, Anneke M.; Oldenburg, Rogier A.; Pachter, Nicholas; Planken, R. Nils; Reuter, Chloe; Semsarian, Christopher; van der Smagt, Jasper J.; Thompson, Tina; Vohra, Jitendra; Volders, Paul G. A.; van Waning, Jaap I.; Whiffin, Nicola; van den Wijngaard, Arthur; Amin, Ahmad S.; Wilde, Arthur A. M.; van Woerden, Gijs; Yeates, Laura; Zentner, Dominica; Ashley, Euan A.; Wheeler, Matthew T.; Ware, James S.; van Tintelen, J. Peter; Ingles, Jodie.png){kind=icon}
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收藏Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death基因组尸检以确定妊娠丢失和围产儿死亡的根本原因.png)
NATURE MEDICINE2023-01-1924OAAIByrne, Alicia B.; Arts, Peer; Ha, Thuong T.; Kassahn, Karin S.; Pais, Lynn S.; O'Donnell-Luria, Anne; Babic, Milena; Frank, Mahalia S. B.; Feng, Jinghua; Wang, Paul; Lawrence, David M.; Eshraghi, Leila; Arriola, Luis; Toubia, John; Nguyen, Hung; McGillivray, George; Pinner, Jason; McKenzie, Fiona; Morrow, Rebecca; Lipsett, Jill; Manton, Nick; Khong, T. Yee; Moore, Lynette; Liebelt, Jan E.; Schreiber, Andreas W.; King-Smith, Sarah L.; Hardy, Tristan S. E.; Jackson, Matilda R.; Barnett, Christopher P.; Scott, Hamish S.; Aguet, Francois; Arachchi, Harindra M.; Austin-Tse, Christina A.; Babb, Larry; Baxter, Samantha M.; Brand, Harrison; Byrne, Alicia B.; Chang, Jaime; Chao, Katherine R.; Collins, Ryan L.; Cummings, Beryl; Delano, Kayla; DiTroia, Stephanie P.; England, Eleina; Evangelista, Emily; Everett, Selin; Francioli, Laurent C.; Fu, Jack; Ganesh, Vijay S.; Garimella, Kiran, V; Gauthier, Laura D.; Goodrich, Julia K.; Gudmundsson, Sanna; Hall, Stacey J.; Huang, Yongqing; Jahl, Steve; Laricchia, Kristen M.; Larkin, Kathryn E.; Lek, Monkol; Lemire, Gabrielle; Lipson, Rachel B.; Lovgren, Alysia Kern; MacArthur, Daniel G.; Mangilog, Brian E.; Mano, Stacy; Marshall, Jamie L.; Mullen, Thomas E.; Nguyen, Kevin K.; O'Heir, Emily; O'Leary, Melanie C.; Osei-Owusu, Ikeoluwa A.; Pais, Lynn S.; Chavez, Jorge Perez de Acha; Pierce-Hoffman, Emma; Rehm, Heidi L.; Serrano, Milan; Singer-Berk, Moriel; Snow, Hana; Solomonson, Matthew; Son, Rachel G.; Sveden, Abigail; Talkowski, Michael; Tiao, Grace; Udler, Miriam S.; Valivullah, Zaheer; Valkanas, Elise; VanNoy, Grace E.; Wang, Qingbo S.; Watts, Nicholas A.; Weisburd, Ben; Williamson, Clara E.; Wilson, Michael W.; Witzgall, Lauren; Wojcik, Monica H.; Wong, Isaac; Wood, Jordan C.; Zhang, Shifa; Abeysuriya, Disna; Ades, Lesley C.; Amor, David J.; Arbuckle, Susan; Bakshi, Madhura; Barnete, Christopher P.; Berry, Bligh; Boughtwood, Tiffany; Bournazos, Adam; Bray, Alessandra; Chan, Fiona; Chan, Yuen; Chung, Clara; Clark, Jonathan; Collett, Jackie; Colley, Alison; Collins, Felicity; Cooper, Sandra; Corbett, Mark A.; Dahlstrom, Jane E.; Dargaville, Peter; Davies, Janene; Davis, Tenielle; Dearman, Jarrad; Dissanayake, Jayanthi; Dobbins, Julia; Doyle, Helen; Dubowsky, Andrew; Edwards, Matt; Ewans, Lisa J.; Fadia, Mitali; Fennell, Andrew; Finlay, Ken; French, Andrew; Friend, Kathryn; Gardner, Alison E.; Gecz, Jozef; Graf, Nicole; Haan, Eric A.; Hollingsworth, Georgina; Horton, Ari E.; Howting, Denise; Hunter, Matthew F.; Jevon, Gareth; Kamien, Benjamin; Kennedy, Debra; Khong, T. Yee; Krivanek, Michael; Kroes, Thessa; Krzesinski, Emma, I; Kwan, Edward; Lau, Stephanie; LeBlanc, Shannon; Liebelt, Jan; Lindsey-Temple, Suzanna; Lipsett, Jill; Loo, Christine K. C.; Low, Julia; Mallawaarachchi, Amali; Manton, Nick; Matsika, Admire; Mattiske, Tessa; McGaughran, Julie; McGillivray, George; McGregor, Lesley; McKenzie, Fiona; Mittal, Namita; Moghimi, Ali; Moore, Lynette; Albayrak, Hatice Mutlu; Ng, Jessica; Nicholl, Jillian; Pachter, Nicholas; Papadimitriou, John; Parker, Renae; Parsons, Sarah; Patel, Chirag; Pawlowski, Rhonda; Perez-Jurado, Luis A.; Pinner, Jason R.; Politis, Katerina; Poulton, Cathryn; Power, Theresa; Quinn, Michael; Rajagopalan, Sulekha; Regan, Matthew; Rodgers, Jonathan; Rorke, Steuart; Sachdev, Rani; Sallevelt, Suzanne; Sandaradura, Sarah A.; Shamassi, Maryam; Shamon, Roshan; Sherburn, Isabella; Slee, Ennie; Solinas, Annalisa; Sugo, Ella; Thompson, Elizabeth; Tripathy, Sagarika; Vasudevan, Anand; Vazquez, Melisa; Verma, Kunal; Viki, Mthulisi; Wallis, Mathew; Webber, Dani L.; Weber, Martin; Whale, Karen; Wilson, Meredith; Worgan, Lisa; Yu, Sui
NATURE MEDICINEIF50
2023-01-1924OAAIByrne, Alicia B.; Arts, Peer; Ha, Thuong T.; Kassahn, Karin S.; Pais, Lynn S.; O'Donnell-Luria, Anne; Babic, Milena; Frank, Mahalia S. B.; Feng, Jinghua; Wang, Paul; Lawrence, David M.; Eshraghi, Leila; Arriola, Luis; Toubia, John; Nguyen, Hung; McGillivray, George; Pinner, Jason; McKenzie, Fiona; Morrow, Rebecca; Lipsett, Jill; Manton, Nick; Khong, T. Yee; Moore, Lynette; Liebelt, Jan E.; Schreiber, Andreas W.; King-Smith, Sarah L.; Hardy, Tristan S. E.; Jackson, Matilda R.; Barnett, Christopher P.; Scott, Hamish S.; Aguet, Francois; Arachchi, Harindra M.; Austin-Tse, Christina A.; Babb, Larry; Baxter, Samantha M.; Brand, Harrison; Byrne, Alicia B.; Chang, Jaime; Chao, Katherine R.; Collins, Ryan L.; Cummings, Beryl; Delano, Kayla; DiTroia, Stephanie P.; England, Eleina; Evangelista, Emily; Everett, Selin; Francioli, Laurent C.; Fu, Jack; Ganesh, Vijay S.; Garimella, Kiran, V; Gauthier, Laura D.; Goodrich, Julia K.; Gudmundsson, Sanna; Hall, Stacey J.; Huang, Yongqing; Jahl, Steve; Laricchia, Kristen M.; Larkin, Kathryn E.; Lek, Monkol; Lemire, Gabrielle; Lipson, Rachel B.; Lovgren, Alysia Kern; MacArthur, Daniel G.; Mangilog, Brian E.; Mano, Stacy; Marshall, Jamie L.; Mullen, Thomas E.; Nguyen, Kevin K.; O'Heir, Emily; O'Leary, Melanie C.; Osei-Owusu, Ikeoluwa A.; Pais, Lynn S.; Chavez, Jorge Perez de Acha; Pierce-Hoffman, Emma; Rehm, Heidi L.; Serrano, Milan; Singer-Berk, Moriel; Snow, Hana; Solomonson, Matthew; Son, Rachel G.; Sveden, Abigail; Talkowski, Michael; Tiao, Grace; Udler, Miriam S.; Valivullah, Zaheer; Valkanas, Elise; VanNoy, Grace E.; Wang, Qingbo S.; Watts, Nicholas A.; Weisburd, Ben; Williamson, Clara E.; Wilson, Michael W.; Witzgall, Lauren; Wojcik, Monica H.; Wong, Isaac; Wood, Jordan C.; Zhang, Shifa; Abeysuriya, Disna; Ades, Lesley C.; Amor, David J.; Arbuckle, Susan; Bakshi, Madhura; Barnete, Christopher P.; Berry, Bligh; Boughtwood, Tiffany; Bournazos, Adam; Bray, Alessandra; Chan, Fiona; Chan, Yuen; Chung, Clara; Clark, Jonathan; Collett, Jackie; Colley, Alison; Collins, Felicity; Cooper, Sandra; Corbett, Mark A.; Dahlstrom, Jane E.; Dargaville, Peter; Davies, Janene; Davis, Tenielle; Dearman, Jarrad; Dissanayake, Jayanthi; Dobbins, Julia; Doyle, Helen; Dubowsky, Andrew; Edwards, Matt; Ewans, Lisa J.; Fadia, Mitali; Fennell, Andrew; Finlay, Ken; French, Andrew; Friend, Kathryn; Gardner, Alison E.; Gecz, Jozef; Graf, Nicole; Haan, Eric A.; Hollingsworth, Georgina; Horton, Ari E.; Howting, Denise; Hunter, Matthew F.; Jevon, Gareth; Kamien, Benjamin; Kennedy, Debra; Khong, T. Yee; Krivanek, Michael; Kroes, Thessa; Krzesinski, Emma, I; Kwan, Edward; Lau, Stephanie; LeBlanc, Shannon; Liebelt, Jan; Lindsey-Temple, Suzanna; Lipsett, Jill; Loo, Christine K. C.; Low, Julia; Mallawaarachchi, Amali; Manton, Nick; Matsika, Admire; Mattiske, Tessa; McGaughran, Julie; McGillivray, George; McGregor, Lesley; McKenzie, Fiona; Mittal, Namita; Moghimi, Ali; Moore, Lynette; Albayrak, Hatice Mutlu; Ng, Jessica; Nicholl, Jillian; Pachter, Nicholas; Papadimitriou, John; Parker, Renae; Parsons, Sarah; Patel, Chirag; Pawlowski, Rhonda; Perez-Jurado, Luis A.; Pinner, Jason R.; Politis, Katerina; Poulton, Cathryn; Power, Theresa; Quinn, Michael; Rajagopalan, Sulekha; Regan, Matthew; Rodgers, Jonathan; Rorke, Steuart; Sachdev, Rani; Sallevelt, Suzanne; Sandaradura, Sarah A.; Shamassi, Maryam; Shamon, Roshan; Sherburn, Isabella; Slee, Ennie; Solinas, Annalisa; Sugo, Ella; Thompson, Elizabeth; Tripathy, Sagarika; Vasudevan, Anand; Vazquez, Melisa; Verma, Kunal; Viki, Mthulisi; Wallis, Mathew; Webber, Dani L.; Weber, Martin; Whale, Karen; Wilson, Meredith; Worgan, Lisa; Yu, Sui分享收藏Functional genomics analysis identifies loss of HNF1B function as a cause of Mayer-Rokitansky-Kuster-Hauser syndrome2022-10-2512OAAIThomson, Ella; Tran, Minh; Robevska, Gorjana; Ayers, Katie; van der Bergen, Jocelyn; Bhaskaran, Prarthna Gopalakrishnan; Haan, Eric; Cereghini, Silvia; Vash-Margita, Alla; Margetts, Miranda; Hensley, Alison; Nguyen, Quan; Sinclair, Andrew; Koopman, Peter; Pelosi, Emanuele
2022-10-2512OAAIThomson, Ella; Tran, Minh; Robevska, Gorjana; Ayers, Katie; van der Bergen, Jocelyn; Bhaskaran, Prarthna Gopalakrishnan; Haan, Eric; Cereghini, Silvia; Vash-Margita, Alla; Margetts, Miranda; Hensley, Alison; Nguyen, Quan; Sinclair, Andrew; Koopman, Peter; Pelosi, Emanuele分享收藏Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema2022-03-0221Byrne, Alicia B.; Brouillard, Pascal; Sutton, Drew L.; Kazenwadel, Jan; Montazaribarforoushi, Saba; Secker, Genevieve A.; Oszmiana, Anna; Babic, Milena; Betterman, Kelly L.; Brautigan, Peter J.; White, Melissa; Piltz, Sandra G.; Thomas, Paul Q.; Hahn, Christopher N.; Rath, Matthias; Felbor, Ute; Korenke, G. Christoph; Smith, Christopher L.; Wood, Kathleen H.; Sheppard, Sarah E.; Adams, Denise M.; Kariminejad, Ariana; Helaers, Raphael; Boon, Laurence M.; Revencu, Nicole; Moore, Lynette; Barnett, Christopher; Haan, Eric; Arts, Peer; Vikkula, Miikka; Scott, Hamish S.; Harvey, Natasha L.
2022-03-0221PREAI
Byrne, Alicia B.; Brouillard, Pascal; Sutton, Drew L.; Kazenwadel, Jan; Montazaribarforoushi, Saba; Secker, Genevieve A.; Oszmiana, Anna; Babic, Milena; Betterman, Kelly L.; Brautigan, Peter J.; White, Melissa; Piltz, Sandra G.; Thomas, Paul Q.; Hahn, Christopher N.; Rath, Matthias; Felbor, Ute; Korenke, G. Christoph; Smith, Christopher L.; Wood, Kathleen H.; Sheppard, Sarah E.; Adams, Denise M.; Kariminejad, Ariana; Helaers, Raphael; Boon, Laurence M.; Revencu, Nicole; Moore, Lynette; Barnett, Christopher; Haan, Eric; Arts, Peer; Vikkula, Miikka; Scott, Hamish S.; Harvey, Natasha L.分享收藏Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study2021-12-137OAAIForde, Claire; Burkitt-Wright, Emma; Turnpenny, Peter D.; Haan, Eric; Ealing, John; Mansour, Sahar; Holder, Muriel; Lahiri, Nayana; Dixit, Abhijit; Procter, Annie; Pacot, Laurence; Vidaud, Dominique; Capri, Yline; Gerard, Marion; Dollfus, Helene; Schaefer, Elise; Quelin, Chloe; Sigaudy, Sabine; Busa, Tiffany; Vera, Gabriella; Damaj, Lena; Messiaen, Ludwine; Stevenson, David A.; Davies, Peter; Palmer-Smith, Sheila; Callaway, Alison; Wolkenstein, Pierre; Pasmant, Eric; Upadhyaya, Meena
2021-12-137OAAIForde, Claire; Burkitt-Wright, Emma; Turnpenny, Peter D.; Haan, Eric; Ealing, John; Mansour, Sahar; Holder, Muriel; Lahiri, Nayana; Dixit, Abhijit; Procter, Annie; Pacot, Laurence; Vidaud, Dominique; Capri, Yline; Gerard, Marion; Dollfus, Helene; Schaefer, Elise; Quelin, Chloe; Sigaudy, Sabine; Busa, Tiffany; Vera, Gabriella; Damaj, Lena; Messiaen, Ludwine; Stevenson, David A.; Davies, Peter; Palmer-Smith, Sheila; Callaway, Alison; Wolkenstein, Pierre; Pasmant, Eric; Upadhyaya, Meena分享收藏Long QT Syndrome Type 1 in an Australian Indigenous Patient2020-04-010OAAIGanesan, Anand N.; Vanoye, Carlos G.; Alam, Ferdous; Waddell-Smith, Kathryn E.; McGavigan, Andrew D.; Correnti, Gemma; Haan, Eric; Brown, Alex; Vandenberg, Jamie; George, Alfred L., Jr.
2020-04-010OAAIGanesan, Anand N.; Vanoye, Carlos G.; Alam, Ferdous; Waddell-Smith, Kathryn E.; McGavigan, Andrew D.; Correnti, Gemma; Haan, Eric; Brown, Alex; Vandenberg, Jamie; George, Alfred L., Jr.分享收藏Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1HUMAN MUTATION2019-10-2692OAAIKoczkowska, Magdalena; Callens, Tom; Chen, Yunjia; Gomes, Alicia; Hicks, Alesha D.; Sharp, Angela; Johns, Eric; Uhas, Kim Armfield; Armstrong, Linlea; Bosanko, Katherine Armstrong; Babovic-Vuksanovic, Dusica; Baker, Laura; Basel, Donald G.; Bengala, Mario; Bennett, James T.; Chambers, Chelsea; Clarkson, Lola K.; Clementi, Maurizio; Cortes, Fanny M.; Cunningham, Mitch; D'Agostino, M. Daniela; Delatycki, Martin B.; Digilio, Maria C.; Dosa, Laura; Esposito, Silvia; Fox, Stephanie; Freckmann, Mary-Louise; Fauth, Christine; Giugliano, Teresa; Giustini, Sandra; Goetsch, Allison; Goldberg, Yael; Greenwood, Robert S.; Griffis, Cristin; Gripp, Karen W.; Gupta, Punita; Haan, Eric; Hachen, Rachel K.; Haygarth, Tamara L.; Hernandez-Chico, Concepcion; Hodge, Katelyn; Hopkin, Robert J.; Hudgins, Louanne; Janssens, Sandra; Keller, Kory; Kelly-Mancuso, Geraldine; Kochhar, Aaina; Korf, Bruce R.; Lewis, Andrea M.; Liebelt, Jan; Lichty, Angie; Listernick, Robert H.; Lyons, Michael J.; Maystadt, Isabelle; Ojeda, Mayra Martinez; McDougall, Carey; McGregor, Lesley K.; Melis, Daniela; Mendelsohn, Nancy; Nowaczyk, Malgorzata J. M.; Ortenberg, June; Panzer, Karin; Pappas, John G.; Pierpont, Mary Ella; Piluso, Giulio; Pinna, Valentina; Pivnick, Eniko K.; Pond, Dinel A.; Powell, Cynthia M.; Rogers, Caleb; Shahar, Noa Ruhrman; Rutledge, S. Lane; Saletti, Veronica; Sandaradura, Sarah A.; Santoro, Claudia; Schatz, Ulrich A.; Schreiber, Allison; Scott, Daryl A.; Sellars, Elizabeth A.; Sheffer, Ruth; Siqveland, Elizabeth; Slopis, John M.; Smith, Rosemarie; Spalice, Alberto; Stockton, David W.; Streff, Haley; Theos, Amy; Tomlinson, Gail E.; Tran, Grace; Trapane, Pamela L.; Trevisson, Eva; Ullrich, Nicole J.; Van den Ende, Jenneke; Vergano, Samantha A. Schrier; Wallace, Stephanie E.; Wangler, Michael F.; Weaver, David D.; Yohay, Kaleb H.; Zackai, Elaine; Zonana, Jonathan; Zurcher, Vickie; Claes, Kathleen B. M.; Eoli, Marica; Martin, Yolanda; Wimmer, Katharina; De Luca, Alessandro; Legius, Eric; Messiaen, Ludwine M.
HUMAN MUTATIONIF3.7
2019-10-2692OAAIKoczkowska, Magdalena; Callens, Tom; Chen, Yunjia; Gomes, Alicia; Hicks, Alesha D.; Sharp, Angela; Johns, Eric; Uhas, Kim Armfield; Armstrong, Linlea; Bosanko, Katherine Armstrong; Babovic-Vuksanovic, Dusica; Baker, Laura; Basel, Donald G.; Bengala, Mario; Bennett, James T.; Chambers, Chelsea; Clarkson, Lola K.; Clementi, Maurizio; Cortes, Fanny M.; Cunningham, Mitch; D'Agostino, M. Daniela; Delatycki, Martin B.; Digilio, Maria C.; Dosa, Laura; Esposito, Silvia; Fox, Stephanie; Freckmann, Mary-Louise; Fauth, Christine; Giugliano, Teresa; Giustini, Sandra; Goetsch, Allison; Goldberg, Yael; Greenwood, Robert S.; Griffis, Cristin; Gripp, Karen W.; Gupta, Punita; Haan, Eric; Hachen, Rachel K.; Haygarth, Tamara L.; Hernandez-Chico, Concepcion; Hodge, Katelyn; Hopkin, Robert J.; Hudgins, Louanne; Janssens, Sandra; Keller, Kory; Kelly-Mancuso, Geraldine; Kochhar, Aaina; Korf, Bruce R.; Lewis, Andrea M.; Liebelt, Jan; Lichty, Angie; Listernick, Robert H.; Lyons, Michael J.; Maystadt, Isabelle; Ojeda, Mayra Martinez; McDougall, Carey; McGregor, Lesley K.; Melis, Daniela; Mendelsohn, Nancy; Nowaczyk, Malgorzata J. M.; Ortenberg, June; Panzer, Karin; Pappas, John G.; Pierpont, Mary Ella; Piluso, Giulio; Pinna, Valentina; Pivnick, Eniko K.; Pond, Dinel A.; Powell, Cynthia M.; Rogers, Caleb; Shahar, Noa Ruhrman; Rutledge, S. Lane; Saletti, Veronica; Sandaradura, Sarah A.; Santoro, Claudia; Schatz, Ulrich A.; Schreiber, Allison; Scott, Daryl A.; Sellars, Elizabeth A.; Sheffer, Ruth; Siqveland, Elizabeth; Slopis, John M.; Smith, Rosemarie; Spalice, Alberto; Stockton, David W.; Streff, Haley; Theos, Amy; Tomlinson, Gail E.; Tran, Grace; Trapane, Pamela L.; Trevisson, Eva; Ullrich, Nicole J.; Van den Ende, Jenneke; Vergano, Samantha A. Schrier; Wallace, Stephanie E.; Wangler, Michael F.; Weaver, David D.; Yohay, Kaleb H.; Zackai, Elaine; Zonana, Jonathan; Zurcher, Vickie; Claes, Kathleen B. M.; Eoli, Marica; Martin, Yolanda; Wimmer, Katharina; De Luca, Alessandro; Legius, Eric; Messiaen, Ludwine M.分享收藏Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmissionSCIENCE ADVANCES2019-09-0630OAAIGuo, Hui; Li, Ying; Shen, Lu; Wang, Tianyun; Jia, Xiangbin; Liu, Lijuan; Xu, Tao; Ou, Mengzhu; Hoekzema, Kendra; Wu, Huidan; Gillentine, Madelyn A.; Liu, Cenying; Ni, Hailun; Peng, Pengwei; Zhao, Rongjuan; Zhang, Yu; Phornphutkul, Chanika; Stegmann, Alexander P. A.; Prada, Carlos E.; Hopkin, Robert J.; Shieh, Joseph T.; McWalter, Kirsty; Monaghan, Kristin G.; van Hasselt, Peter M.; van Gassen, Koen; Bai, Ting; Long, Min; Han, Lin; Quan, Yingting; Chen, Meilin; Zhang, Yaowen; Li, Kuokuo; Zhang, Qiumeng; Tan, Jieqiong; Zhu, Tengfei; Liu, Yaning; Pang, Nan; Peng, Jing; Scott, Daryl A.; Lalani, Seema R.; Azamian, Mahshid; Mancini, Grazia M. S.; Adams, Darius J.; Kvarnung, Malin; Lindstrand, Anna; Nordgren, Ann; Pevsner, Jonathan; Osei-Owusu, Ikeoluwa A.; Romano, Corrado; Calabrese, Giuseppe; Galesi, Ornella; Gecz, Jozef; Haan, Eric; Ranells, Judith; Racobaldo, Melissa; Nordenskjold, Magnus; Madan-Khetarpal, Suneeta; Sebastian, Jessica; Ball, Susie; Zou, Xiaobing; Zhao, Jingping; Hu, Zhengmao; Xia, Fan; Liu, Pengfei; Rosenfeld, Jill A.; de Vries, Bert B. A.; Bernier, Raphael A.; Xu, Zhi-Qing David; Li, Honghui; Xie, Wei; Hufnagel, Robert B.; Eichler, Evan E.; Xia, Kun
SCIENCE ADVANCESIF12.5
2019-09-0630OAAIGuo, Hui; Li, Ying; Shen, Lu; Wang, Tianyun; Jia, Xiangbin; Liu, Lijuan; Xu, Tao; Ou, Mengzhu; Hoekzema, Kendra; Wu, Huidan; Gillentine, Madelyn A.; Liu, Cenying; Ni, Hailun; Peng, Pengwei; Zhao, Rongjuan; Zhang, Yu; Phornphutkul, Chanika; Stegmann, Alexander P. A.; Prada, Carlos E.; Hopkin, Robert J.; Shieh, Joseph T.; McWalter, Kirsty; Monaghan, Kristin G.; van Hasselt, Peter M.; van Gassen, Koen; Bai, Ting; Long, Min; Han, Lin; Quan, Yingting; Chen, Meilin; Zhang, Yaowen; Li, Kuokuo; Zhang, Qiumeng; Tan, Jieqiong; Zhu, Tengfei; Liu, Yaning; Pang, Nan; Peng, Jing; Scott, Daryl A.; Lalani, Seema R.; Azamian, Mahshid; Mancini, Grazia M. S.; Adams, Darius J.; Kvarnung, Malin; Lindstrand, Anna; Nordgren, Ann; Pevsner, Jonathan; Osei-Owusu, Ikeoluwa A.; Romano, Corrado; Calabrese, Giuseppe; Galesi, Ornella; Gecz, Jozef; Haan, Eric; Ranells, Judith; Racobaldo, Melissa; Nordenskjold, Magnus; Madan-Khetarpal, Suneeta; Sebastian, Jessica; Ball, Susie; Zou, Xiaobing; Zhao, Jingping; Hu, Zhengmao; Xia, Fan; Liu, Pengfei; Rosenfeld, Jill A.; de Vries, Bert B. A.; Bernier, Raphael A.; Xu, Zhi-Qing David; Li, Honghui; Xie, Wei; Hufnagel, Robert B.; Eichler, Evan E.; Xia, Kun分享收藏Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasiaSCIENTIFIC REPORTS2019-07-269OAAIBonham, Luke W.; Steele, Natasha Z. R.; Karch, Celeste M.; Broce, Iris; Geier, Ethan G.; Wen, Natalie L.; Momeni, Parastoo; Hardy, John; Miller, Zachary A.; Gorno-Tempini, Maria Luisa; Hess, Christopher P.; Lewis, Patrick; Miller, Bruce L.; Seeley, William W.; Manzoni, Claudia; Desikan, Rahul S.; Baranzini, Sergio E.; Ferraris, Raffaele; Yokoyama, Jennifer S.; Hernandez, D. G.; Nalls, M. A.; Rohrer, J. D.; Ramasamy, A.; Kwok, J. B. J.; Dobson-Stone, C.; Schofield, P. R.; Halliday, G. M.; Hodges, J. R.; Piguet, O.; Bartley, L.; Thompson, E.; Haan, E.; Hernandez, I; Ruiz, A.; Boada, M.; Borroni, B.; Padovani, A.; Cruchaga, C.; Cairns, N. J.; Benussi, L.; Binetti, G.; Ghidoni, R.; Forloni, G.; Albani, D.; Galimberti, D.; Fenoglio, C.; Serpente, M.; Scarpini, E.; Clarimon, J.; Lleo, A.; Blesa, R.; Waldo, M. Landqvist; Nilsson, K.; Nilsson, C.; Mackenzie, I. R. A.; Hsiung, G-Y R.; Mann, D. M. A.; Grafman, J.; Morris, C. M.; Attems, J.; Griffiths, T. D.; McKeith, I. G.; Thomas, A. J.; Pietrini, P.; Huey, E. D.; Wassermann, E. M.; Baborie, A.; Jaros, E.; Tierney, M. C.; Pastor, P.; Razquin, C.; Ortega-Cubero, S.; Alonso, E.; Perneczky, R.; Diehl-Schmid, J.; Alexopoulos, P.; Kurz, A.; Rainero, I; Rubino, E.; Pinessi, L.; Rogaeva, E.; St George-Hyslop, P.; Rossi, G.; Tagliavini, F.; Giaccone, G.; Rowe, J. B.; Schlachetzki, J. C. M.; Uphill, J.; Collinge, J.; Mead, S.; Danek, A.; Van Deerlin, V. M.; Grossman, M.; Trojanowski, J. Q.; van der Zee, J.; Cruts, M.; Van Broeckhoven, C.; Cappa, S. F.; Leber, I; Hannequin, D.; Golfier, V; Vercelletto, M.; Brice, A.; Nacmias, B.; Sorbin, S.; Bagnoli, S.; Piaceri, I; Nielsen, J. E.; Hjermind, L. E.; Riemenschneider, M.; Mayhaus, M.; Ibach, B.; Gasparoni, G.; Pichler, S.; Gu, W.; Rossor, M. N.; Fox, N. C.; Warren, J. D.; Spillantini, M. G.; Morriss, H. R.; Rizzu, P.; Heutink, P.; Snowden, J. S.; Rollinson, S.; Richardson, A.; Gerhard, A.; Bruni, A. C.; Maletta, R.; Frangipane, F.; Cupidi, C.; Bernardi, L.; Anfossi, M.; Gallo, M.; Conidi, M. E.; Smirne, N.; Rademakers, R.; Baker, M.; Dickson, D. W.; Graff-Radford, N. R.; Petersen, R. C.; Knopman, D.; Josephs, K. A.; Boeve, B. F.; Parisi, J. E.; Karydas, A. M.; Rosen, H.; van Swieten, J. C.; Dopper, E. G. P.; Seelaar, H.; Pijnenburg, Y. A. L.; Scheltens, P.; Logroscino, G.; Capozzo, R.; Novelli, V; Puca, A. A.; Franceschi, M.; Postiglione, A.; Milan, G.; Sorrentino, P.; Kristiansen, M.; Chian, H-H; Graff, C.; Pasquier, F.; Rollin, A.; Deramecourt, V; Lebouvier, T.; Kapogiannis, D.; Ferrucci, L.; Pickering-Brown, S.; Singleton, A. B.
SCIENTIFIC REPORTSIF3.9
2019-07-269OAAIBonham, Luke W.; Steele, Natasha Z. R.; Karch, Celeste M.; Broce, Iris; Geier, Ethan G.; Wen, Natalie L.; Momeni, Parastoo; Hardy, John; Miller, Zachary A.; Gorno-Tempini, Maria Luisa; Hess, Christopher P.; Lewis, Patrick; Miller, Bruce L.; Seeley, William W.; Manzoni, Claudia; Desikan, Rahul S.; Baranzini, Sergio E.; Ferraris, Raffaele; Yokoyama, Jennifer S.; Hernandez, D. G.; Nalls, M. A.; Rohrer, J. D.; Ramasamy, A.; Kwok, J. B. J.; Dobson-Stone, C.; Schofield, P. R.; Halliday, G. M.; Hodges, J. R.; Piguet, O.; Bartley, L.; Thompson, E.; Haan, E.; Hernandez, I; Ruiz, A.; Boada, M.; Borroni, B.; Padovani, A.; Cruchaga, C.; Cairns, N. J.; Benussi, L.; Binetti, G.; Ghidoni, R.; Forloni, G.; Albani, D.; Galimberti, D.; Fenoglio, C.; Serpente, M.; Scarpini, E.; Clarimon, J.; Lleo, A.; Blesa, R.; Waldo, M. Landqvist; Nilsson, K.; Nilsson, C.; Mackenzie, I. R. A.; Hsiung, G-Y R.; Mann, D. M. A.; Grafman, J.; Morris, C. M.; Attems, J.; Griffiths, T. D.; McKeith, I. G.; Thomas, A. J.; Pietrini, P.; Huey, E. D.; Wassermann, E. M.; Baborie, A.; Jaros, E.; Tierney, M. C.; Pastor, P.; Razquin, C.; Ortega-Cubero, S.; Alonso, E.; Perneczky, R.; Diehl-Schmid, J.; Alexopoulos, P.; Kurz, A.; Rainero, I; Rubino, E.; Pinessi, L.; Rogaeva, E.; St George-Hyslop, P.; Rossi, G.; Tagliavini, F.; Giaccone, G.; Rowe, J. B.; Schlachetzki, J. C. M.; Uphill, J.; Collinge, J.; Mead, S.; Danek, A.; Van Deerlin, V. M.; Grossman, M.; Trojanowski, J. Q.; van der Zee, J.; Cruts, M.; Van Broeckhoven, C.; Cappa, S. F.; Leber, I; Hannequin, D.; Golfier, V; Vercelletto, M.; Brice, A.; Nacmias, B.; Sorbin, S.; Bagnoli, S.; Piaceri, I; Nielsen, J. E.; Hjermind, L. E.; Riemenschneider, M.; Mayhaus, M.; Ibach, B.; Gasparoni, G.; Pichler, S.; Gu, W.; Rossor, M. N.; Fox, N. C.; Warren, J. D.; Spillantini, M. G.; Morriss, H. R.; Rizzu, P.; Heutink, P.; Snowden, J. S.; Rollinson, S.; Richardson, A.; Gerhard, A.; Bruni, A. C.; Maletta, R.; Frangipane, F.; Cupidi, C.; Bernardi, L.; Anfossi, M.; Gallo, M.; Conidi, M. E.; Smirne, N.; Rademakers, R.; Baker, M.; Dickson, D. W.; Graff-Radford, N. R.; Petersen, R. C.; Knopman, D.; Josephs, K. A.; Boeve, B. F.; Parisi, J. E.; Karydas, A. M.; Rosen, H.; van Swieten, J. C.; Dopper, E. G. P.; Seelaar, H.; Pijnenburg, Y. A. L.; Scheltens, P.; Logroscino, G.; Capozzo, R.; Novelli, V; Puca, A. A.; Franceschi, M.; Postiglione, A.; Milan, G.; Sorrentino, P.; Kristiansen, M.; Chian, H-H; Graff, C.; Pasquier, F.; Rollin, A.; Deramecourt, V; Lebouvier, T.; Kapogiannis, D.; Ferrucci, L.; Pickering-Brown, S.; Singleton, A. B.分享收藏Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3′-end processing与肥厚型心肌病相关的ELAC2突变损害线粒体tRNA 3 ′ 末端加工HUMAN MUTATION2019-06-1831OAAISaoura, Makenzie; Powell, Christopher A.; Kopajtich, Robert; Alahmad, Ahmad; AL-Balool, Haya H.; Albash, Buthaina; Alfadhel, Majid; Alston, Charlotte L.; Bertini, Enrico; Bonnen, Penelope E.; Bratkovic, Drago; Carrozzo, Rosalba; Donati, Maria A.; Di Nottia, Michela; Ghezzi, Daniele; Goldstein, Amy; Haan, Eric; Horvath, Rita; Hughes, Joanne; Invernizzi, Federica; Lamantea, Eleonora; Lucas, Benjamin; Pinnock, Kyla-Gaye; Pujantell, Maria; Rahman, Shamima; Rebelo-Guiomar, Pedro; Santra, Saikat; Verrigni, Daniela; McFarland, Robert; Prokisch, Holger; Taylor, Robert W.; Levinger, Louis; Minczuk, Michal
HUMAN MUTATIONIF3.7
2019-06-1831OAAISaoura, Makenzie; Powell, Christopher A.; Kopajtich, Robert; Alahmad, Ahmad; AL-Balool, Haya H.; Albash, Buthaina; Alfadhel, Majid; Alston, Charlotte L.; Bertini, Enrico; Bonnen, Penelope E.; Bratkovic, Drago; Carrozzo, Rosalba; Donati, Maria A.; Di Nottia, Michela; Ghezzi, Daniele; Goldstein, Amy; Haan, Eric; Horvath, Rita; Hughes, Joanne; Invernizzi, Federica; Lamantea, Eleonora; Lucas, Benjamin; Pinnock, Kyla-Gaye; Pujantell, Maria; Rahman, Shamima; Rebelo-Guiomar, Pedro; Santra, Saikat; Verrigni, Daniela; McFarland, Robert; Prokisch, Holger; Taylor, Robert W.; Levinger, Louis; Minczuk, Michal分享收藏De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias (vol 103, pg 666, 2018)2019-03-018OAAIHelbig, Katherine L.; Lauerer, Robert J.; Bahr, Jacqueline C.; Souza, Ivana A.; Myers, Candace T.; Uysal, Betul; Schwarz, Niklas; Gandini, Maria A.; Huang, Sun; Keren, Boris; Mignot, Cyril; Afenjar, Alexandra; de Villemeur, Thierry Billette; Heron, Delphine; Nava, Caroline; Valence, Stephanie; Buratti, Julien; Fagerberg, Christina R.; Soerensen, Kristina P.; Kibaek, Maria; Kamsteeg, Erik-Jan; Koolen, David A.; Gunning, Boudewijn; Schelhaas, H. Jurgen; Kruer, Michael C.; Fox, Jordana; Bakhtiari, Somayeh; Jarrar, Randa; Padilla-Lopez, Sergio; Lindstrom, Kristin; Jin, Sheng Chih; Zeng, Xue; Bilguvar, Kaya; Papavasileiou, Antigone; Xing, Qinghe; Zhu, Changlian; Boysen, Katja; Vairo, Filippo; Lanpher, Brendan C.; Klee, Eric W.; Tillema, Jan-Mendelt; Payne, Eric T.; Cousin, Margot A.; Kruisselbrink, Teresa M.; Wick, Myra J.; Baker, Joshua; Haan, Eric; Smith, Nicholas; Sadeghpour, Azita; Davis, Erica E.; Katsanis, Nicholas; Corbett, Mark A.; MacLennan, Alastair H.; Gecz, Jozef; Biskup, Saskia; Goldmann, Eva; Rodan, Lance H.; Kichula, Elizabeth; Segal, Eric; Jackson, Kelly E.; Asamoah, Alexander; Dimmock, David; McCarrier, Julie; Botto, Lorenzo D.; Filloux, Francis; Tvrdik, Tatiana; Cascino, Gregory D.; Klingerman, Sherry; Neumann, Catherine; Wang, Raymond; Jacobsen, Jessie C.; Nolan, Melinda A.; Snell, Russell G.; Lehnert, Klaus; Sadleir, Lynette G.; Anderlid, Britt-Marie; Kvarnung, Malin; Guerrini, Renzo; Friez, Michael J.; Lyons, Michael J.; Leonhard, Jennifer; Kringlen, Gabriel; Casas, Kari; El Achkar, Christelle M.; Smith, Lacey A.; Rotenberg, Alexander; Poduri, Annapurna; Sanchis-Juan, Alba; Carss, Keren J.; Rankin, Julia; Zeman, Adam; Raymond, F. Lucy; Blyth, Moira; Kerr, Bronwyn; Ruiz, Karla; Urquhart, Jill; Hughes, Imelda; Banka, Siddharth; Hedrich, Ulrike B. S.; Scheffer, Ingrid E.; Helbig, Ingo; Zamponi, Gerald W.; Lerche, Holger; Mefford, Heather C.
2019-03-018OAAIHelbig, Katherine L.; Lauerer, Robert J.; Bahr, Jacqueline C.; Souza, Ivana A.; Myers, Candace T.; Uysal, Betul; Schwarz, Niklas; Gandini, Maria A.; Huang, Sun; Keren, Boris; Mignot, Cyril; Afenjar, Alexandra; de Villemeur, Thierry Billette; Heron, Delphine; Nava, Caroline; Valence, Stephanie; Buratti, Julien; Fagerberg, Christina R.; Soerensen, Kristina P.; Kibaek, Maria; Kamsteeg, Erik-Jan; Koolen, David A.; Gunning, Boudewijn; Schelhaas, H. Jurgen; Kruer, Michael C.; Fox, Jordana; Bakhtiari, Somayeh; Jarrar, Randa; Padilla-Lopez, Sergio; Lindstrom, Kristin; Jin, Sheng Chih; Zeng, Xue; Bilguvar, Kaya; Papavasileiou, Antigone; Xing, Qinghe; Zhu, Changlian; Boysen, Katja; Vairo, Filippo; Lanpher, Brendan C.; Klee, Eric W.; Tillema, Jan-Mendelt; Payne, Eric T.; Cousin, Margot A.; Kruisselbrink, Teresa M.; Wick, Myra J.; Baker, Joshua; Haan, Eric; Smith, Nicholas; Sadeghpour, Azita; Davis, Erica E.; Katsanis, Nicholas; Corbett, Mark A.; MacLennan, Alastair H.; Gecz, Jozef; Biskup, Saskia; Goldmann, Eva; Rodan, Lance H.; Kichula, Elizabeth; Segal, Eric; Jackson, Kelly E.; Asamoah, Alexander; Dimmock, David; McCarrier, Julie; Botto, Lorenzo D.; Filloux, Francis; Tvrdik, Tatiana; Cascino, Gregory D.; Klingerman, Sherry; Neumann, Catherine; Wang, Raymond; Jacobsen, Jessie C.; Nolan, Melinda A.; Snell, Russell G.; Lehnert, Klaus; Sadleir, Lynette G.; Anderlid, Britt-Marie; Kvarnung, Malin; Guerrini, Renzo; Friez, Michael J.; Lyons, Michael J.; Leonhard, Jennifer; Kringlen, Gabriel; Casas, Kari; El Achkar, Christelle M.; Smith, Lacey A.; Rotenberg, Alexander; Poduri, Annapurna; Sanchis-Juan, Alba; Carss, Keren J.; Rankin, Julia; Zeman, Adam; Raymond, F. Lucy; Blyth, Moira; Kerr, Bronwyn; Ruiz, Karla; Urquhart, Jill; Hughes, Imelda; Banka, Siddharth; Hedrich, Ulrike B. S.; Scheffer, Ingrid E.; Helbig, Ingo; Zamponi, Gerald W.; Lerche, Holger; Mefford, Heather C.分享收藏Assessment of myocardial oxygenation, strain, and diastology in MYBPC3-nrelated hypertrophic cardiomyopathy: a cardiovascular magnetic resonance and echocardiography study2019-01-2121Grover, Suchi; Lloyd, Rachael; Perry, Rebecca; Lou, Pey Wen; Haan, Eric; Yeates, Laura; Woodman, Richard; Atherton, John J.; Semsarian, Chris; Selvanayagam, Joseph B.
2019-01-2121PREAI
Grover, Suchi; Lloyd, Rachael; Perry, Rebecca; Lou, Pey Wen; Haan, Eric; Yeates, Laura; Woodman, Richard; Atherton, John J.; Semsarian, Chris; Selvanayagam, Joseph B.分享收藏Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia介导神经退行性痴呆的进化保守基因网络的鉴定NATURE MEDICINE2018-12-0398OAAISwarup, Vivek; Hinz, Flora I.; Rexach, Jessica E.; Noguchi, Ken-ichi; Toyoshiba, Hiroyoshi; Oda, Akira; Hirai, Keisuke; Sarkar, Arjun; Seyfried, Nicholas T.; Cheng, Chialin; Haggarty, Stephen J.; Ferrari, Raffaele; Rohrer, Jonathan D.; Ramasamy, Adaikalavan; Hardy, John; Hernandez, Dena G.; Nalls, Michael A.; Singleton, Andrew B.; Kwok, John B. J.; Dobson-Stone, Carol; Brooks, William S.; Schofield, Peter R.; Halliday, Glenda M.; Hodges, John R.; Piguet, Olivier; Bartley, Lauren; Thompson, Elizabeth; Haan, Eric; Hernandez, Isabel; Ruiz, Agustin; Boada, Merce; Borroni, Barbara; Padovani, Alessandro; Cairns, Nigel J.; Cruchaga, Carlos; Binetti, Giuliano; Ghidoni, Roberta; Benussi, Luisa; Forloni, Gianluigi; Albani, Diego; Galimberti, Daniela; Fenoglio, Chiara; Serpente, Maria; Scarpini, Elio; Clarimon, Jordi; Lleo, Alberto; Blesa, Rafael; Waldo, Maria Landqvist; Nilsson, Karin; Nilsson, Christer; Mackenzie, Ian R. A.; Hsiung, Ging-Yuek R.; Mann, David M. A.; Grafman, Jordan; Morris, Christopher M.; Attems, Johannes; Griffiths, Timothy D.; McKeith, Ian G.; Thomas, Alan J.; Jaros, Evelyn; Pietrini, Pietro; Huey, Edward D.; Wassermann, Eric M.; Tierney, Michael C.; Baborie, Atik; Pastor, Pau; Ortega-Cubero, Sara; Razquin, Cristina; Alonso, Elena; Perneczky, Robert; Diehl-Schmid, Janine; Alexopoulos, Panagiotis; Kurz, Alexander; Rainero, Innocenzo; Rubino, Elisa; Pinessi, Lorenzo; Rogaeva, Ekaterina; St George-Hyslop, Peter; Rossi, Giacomina; Tagliavini, Fabrizio; Giaccone, Giorgio; Rowe, James B.; Schlachetzki, Johannes C. M.; Uphill, James; Collinge, John; Mead, Simon; Danek, Adrian; Van Deerlin, Vivianna M.; Grossman, Murray; Trojanowski, John Q.; Pickering-Brown, Stuart; Momeni, Parastoo; van der Zee, Julie; Cruts, Marc; Van Broeckhoven, Christine; Cappa, Stefano F.; Leber, Isabelle; Brice, Alexis; Hannequin, Didier; Golfier, Veronique; Vercelletto, Martine; Nacmias, Benedetta; Sorbi, Sandro; Bagnoli, Silvia; Piaceri, Irene; Nielsen, Jorgen E.; Hjermind, Lena E.; Riemenschneider, Matthias; Mayhaus, Manuel; Gasparoni, Gilles; Pichler, Sabrina; Ibach, Bernd; Rossor, Martin N.; Fox, Nick C.; Warren, Jason D.; Spillantini, Maria Grazia; Morris, Huw R.; Rizzu, Patrizia; Heutink, Peter; Snowden, Julie S.; Rollinson, Sara; Gerhard, Alexander; Richardson, Anna; Bruni, Amalia C.; Maletta, Raffaele; Frangipane, Francesca; Cupidi, Chiara; Bernardi, Livia; Anfossi, Maria; Gallo, Maura; Conidi, Maria Elena; Smirne, Nicoletta; Rademakers, Rosa; Baker, Matt; Dickson, Dennis W.; Graff-Radford, Neill R.; Petersen, Ronald C.; Knopman, David; Josephs, Keith A.; Boeve, Bradley F.; Parisi, Joseph E.; Miller, Bruce L.; Karydas, Anna M.; Rosen, Howard; Seeley, William W.; van Swieten, John C.; Dopper, Elise G. P.; Seelaar, Harro; Pijnenburg, Yolande A. L.; Scheltens, Philip; Logroscino, Giancarlo; Capozzo, Rosa; Novelli, Valeria; Puca, Annibale A.; Franceschi, Massimo; Postiglione, Alfredo; Milan, Graziella; Sorrentino, Paolo; Kristiansen, Mark; Chiang, Huei-Hsin; Graff, Caroline; Pasquier, Florence; Rollin, Adeline; Deramecourt, Vincent; Lebouvier, Thibaud; Ferrucci, Luigi; Kapogiannis, Dimitrios; Grossman, Murray; Van Deerlin, Vivianna M.; Trojanowski, John Q.; Lah, James J.; Levey, Allan I.; Kondou, Shinichi; Geschwind, Daniel H.
NATURE MEDICINEIF50
2018-12-0398OAAISwarup, Vivek; Hinz, Flora I.; Rexach, Jessica E.; Noguchi, Ken-ichi; Toyoshiba, Hiroyoshi; Oda, Akira; Hirai, Keisuke; Sarkar, Arjun; Seyfried, Nicholas T.; Cheng, Chialin; Haggarty, Stephen J.; Ferrari, Raffaele; Rohrer, Jonathan D.; Ramasamy, Adaikalavan; Hardy, John; Hernandez, Dena G.; Nalls, Michael A.; Singleton, Andrew B.; Kwok, John B. J.; Dobson-Stone, Carol; Brooks, William S.; Schofield, Peter R.; Halliday, Glenda M.; Hodges, John R.; Piguet, Olivier; Bartley, Lauren; Thompson, Elizabeth; Haan, Eric; Hernandez, Isabel; Ruiz, Agustin; Boada, Merce; Borroni, Barbara; Padovani, Alessandro; Cairns, Nigel J.; Cruchaga, Carlos; Binetti, Giuliano; Ghidoni, Roberta; Benussi, Luisa; Forloni, Gianluigi; Albani, Diego; Galimberti, Daniela; Fenoglio, Chiara; Serpente, Maria; Scarpini, Elio; Clarimon, Jordi; Lleo, Alberto; Blesa, Rafael; Waldo, Maria Landqvist; Nilsson, Karin; Nilsson, Christer; Mackenzie, Ian R. A.; Hsiung, Ging-Yuek R.; Mann, David M. A.; Grafman, Jordan; Morris, Christopher M.; Attems, Johannes; Griffiths, Timothy D.; McKeith, Ian G.; Thomas, Alan J.; Jaros, Evelyn; Pietrini, Pietro; Huey, Edward D.; Wassermann, Eric M.; Tierney, Michael C.; Baborie, Atik; Pastor, Pau; Ortega-Cubero, Sara; Razquin, Cristina; Alonso, Elena; Perneczky, Robert; Diehl-Schmid, Janine; Alexopoulos, Panagiotis; Kurz, Alexander; Rainero, Innocenzo; Rubino, Elisa; Pinessi, Lorenzo; Rogaeva, Ekaterina; St George-Hyslop, Peter; Rossi, Giacomina; Tagliavini, Fabrizio; Giaccone, Giorgio; Rowe, James B.; Schlachetzki, Johannes C. M.; Uphill, James; Collinge, John; Mead, Simon; Danek, Adrian; Van Deerlin, Vivianna M.; Grossman, Murray; Trojanowski, John Q.; Pickering-Brown, Stuart; Momeni, Parastoo; van der Zee, Julie; Cruts, Marc; Van Broeckhoven, Christine; Cappa, Stefano F.; Leber, Isabelle; Brice, Alexis; Hannequin, Didier; Golfier, Veronique; Vercelletto, Martine; Nacmias, Benedetta; Sorbi, Sandro; Bagnoli, Silvia; Piaceri, Irene; Nielsen, Jorgen E.; Hjermind, Lena E.; Riemenschneider, Matthias; Mayhaus, Manuel; Gasparoni, Gilles; Pichler, Sabrina; Ibach, Bernd; Rossor, Martin N.; Fox, Nick C.; Warren, Jason D.; Spillantini, Maria Grazia; Morris, Huw R.; Rizzu, Patrizia; Heutink, Peter; Snowden, Julie S.; Rollinson, Sara; Gerhard, Alexander; Richardson, Anna; Bruni, Amalia C.; Maletta, Raffaele; Frangipane, Francesca; Cupidi, Chiara; Bernardi, Livia; Anfossi, Maria; Gallo, Maura; Conidi, Maria Elena; Smirne, Nicoletta; Rademakers, Rosa; Baker, Matt; Dickson, Dennis W.; Graff-Radford, Neill R.; Petersen, Ronald C.; Knopman, David; Josephs, Keith A.; Boeve, Bradley F.; Parisi, Joseph E.; Miller, Bruce L.; Karydas, Anna M.; Rosen, Howard; Seeley, William W.; van Swieten, John C.; Dopper, Elise G. P.; Seelaar, Harro; Pijnenburg, Yolande A. L.; Scheltens, Philip; Logroscino, Giancarlo; Capozzo, Rosa; Novelli, Valeria; Puca, Annibale A.; Franceschi, Massimo; Postiglione, Alfredo; Milan, Graziella; Sorrentino, Paolo; Kristiansen, Mark; Chiang, Huei-Hsin; Graff, Caroline; Pasquier, Florence; Rollin, Adeline; Deramecourt, Vincent; Lebouvier, Thibaud; Ferrucci, Luigi; Kapogiannis, Dimitrios; Grossman, Murray; Van Deerlin, Vivianna M.; Trojanowski, John Q.; Lah, James J.; Levey, Allan I.; Kondou, Shinichi; Geschwind, Daniel H.分享收藏Delineating FOXG1 syndrome From congenital microcephaly to hyperkinetic encephalopathyNEUROLOGY-GENETICS2018-12-0144OAAIVegas, Nancy; Cavallin, Mara; Maillard, Camille; Boddaert, Nathalie; Toulouse, Joseph; Schaefer, Elise; Lerman-Sagie, Tally; Lev, Dorit; Magalie, Barth; Moutton, Sebastien; Haan, Eric; Isidor, Bertrand; Heron, Delphine; Milh, Mathieu; Rondeau, Stephane; Michot, Caroline; Valence, Stephanie; Wagner, Sabrina; Hully, Marie; Mignot, Cyril; Masurel, Alice; Datta, Alexandre; Odent, Sylvie; Nizon, Mathilde; Lazaro, Leila; Vincent, Marie; Cogne, Benjamin; Guerrot, Anne Marie; Arpin, Stephanie; Pedespan, Jean Michel; Caubel, Isabelle; Pontier, Benedicte; Troude, Baptiste; Rivier, Francois; Philippe, Christophe; Bienvenu, Thierry; Spitz, Marie-Aude; Bery, Amandine; Bahi-Buisson, Nadia
NEUROLOGY-GENETICSIF3.7
2018-12-0144OAAIVegas, Nancy; Cavallin, Mara; Maillard, Camille; Boddaert, Nathalie; Toulouse, Joseph; Schaefer, Elise; Lerman-Sagie, Tally; Lev, Dorit; Magalie, Barth; Moutton, Sebastien; Haan, Eric; Isidor, Bertrand; Heron, Delphine; Milh, Mathieu; Rondeau, Stephane; Michot, Caroline; Valence, Stephanie; Wagner, Sabrina; Hully, Marie; Mignot, Cyril; Masurel, Alice; Datta, Alexandre; Odent, Sylvie; Nizon, Mathilde; Lazaro, Leila; Vincent, Marie; Cogne, Benjamin; Guerrot, Anne Marie; Arpin, Stephanie; Pedespan, Jean Michel; Caubel, Isabelle; Pontier, Benedicte; Troude, Baptiste; Rivier, Francois; Philippe, Christophe; Bienvenu, Thierry; Spitz, Marie-Aude; Bery, Amandine; Bahi-Buisson, Nadia分享收藏De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias2018-11-0193OAAIHelbig, Katherine L.; Lauerer, Robert J.; Bahr, Jacqueline C.; Souza, Ivana A.; Myers, Candace T.; Uysal, Betuel; Schwarz, Niklas; Gandini, Maria A.; Huang, Sun; Keren, Boris; Mignot, Cyril; Afenjar, Alexandra; de Villemeur, Thierry Billette; Heron, Delphine; Nava, Caroline; Valence, Stephanie; Buratti, Julien; Fagerberg, Christina R.; Soerensen, Kristina P.; Kibaek, Maria; Kamsteeg, Erik-Jan; Koolen, David A.; Gunning, Boudewijn; Schelhaas, H. Jurgen; Kruer, Michael C.; Fox, Jordana; Bakhtiari, Somayeh; Jarrar, Randa; Padilla-Lopez, Sergio; Lindstrom, Kristin; Jin, Sheng Chih; Zeng, Xue; Bilguvar, Kaya; Papavasileiou, Antigone; Xin, Qinghe; Zhu, Changlian; Boysen, Katja; Vairo, Filippo; Lanpher, Brendan C.; Klee, Eric W.; Tillema, Jan-Mendelt; Payne, Eric T.; Cousin, Margot A.; Kruisselbrink, Teresa M.; Wick, Myra J.; Baker, Joshua; Haan, Eric; Smith, Nicholas; Corbett, Mark A.; MacLennan, Alastair H.; Gecz, Jozef; Biskup, Saskia; Goldmann, Eva; Rodan, Lance H.; Kichula, Elizabeth; Segal, Eric; Jackson, Kelly E.; Asamoah, Alexander; Dimmock, David; McCarrier, Julie; Botto, Lorenzo D.; Filloux, Francis; Tvrdik, Tatiana; Cascino, Gregory D.; Klingerman, Sherry; Neumann, Catherine; Wang, Raymond; Jacobsen, Jessie C.; Nolan, Melinda A.; Snell, Russell G.; Lehnert, Klaus; Sadleir, Lynette G.; Anderlid, Britt-Marie; Kvarnung, Malin; Guerrini, Renzo; Friez, Michael J.; Lyons, Michael J.; Leonhard, Jennifer; Kringlen, Gabriel; Casas, Kari; El Achkar, Christelle M.; Smith, Lacey A.; Rotenberg, Alexander; Poduri, Annapurna; Sanchis-Juan, Alba; Carss, Keren J.; Rankin, Julia; Zeman, Adam; Raymond, F. Lucy; Blyth, Moira; Kerr, Bronwyn; Ruiz, Karla; Urquhart, Jill; Hughes, Imelda; Banka, Siddharth; Hedrich, Ulrike B. S.; Scheffer, Ingrid E.; Helbig, Ingo; Zamponi, Gerald W.; Lerche, Holger; Mefford, Heather C.
2018-11-0193OAAIHelbig, Katherine L.; Lauerer, Robert J.; Bahr, Jacqueline C.; Souza, Ivana A.; Myers, Candace T.; Uysal, Betuel; Schwarz, Niklas; Gandini, Maria A.; Huang, Sun; Keren, Boris; Mignot, Cyril; Afenjar, Alexandra; de Villemeur, Thierry Billette; Heron, Delphine; Nava, Caroline; Valence, Stephanie; Buratti, Julien; Fagerberg, Christina R.; Soerensen, Kristina P.; Kibaek, Maria; Kamsteeg, Erik-Jan; Koolen, David A.; Gunning, Boudewijn; Schelhaas, H. Jurgen; Kruer, Michael C.; Fox, Jordana; Bakhtiari, Somayeh; Jarrar, Randa; Padilla-Lopez, Sergio; Lindstrom, Kristin; Jin, Sheng Chih; Zeng, Xue; Bilguvar, Kaya; Papavasileiou, Antigone; Xin, Qinghe; Zhu, Changlian; Boysen, Katja; Vairo, Filippo; Lanpher, Brendan C.; Klee, Eric W.; Tillema, Jan-Mendelt; Payne, Eric T.; Cousin, Margot A.; Kruisselbrink, Teresa M.; Wick, Myra J.; Baker, Joshua; Haan, Eric; Smith, Nicholas; Corbett, Mark A.; MacLennan, Alastair H.; Gecz, Jozef; Biskup, Saskia; Goldmann, Eva; Rodan, Lance H.; Kichula, Elizabeth; Segal, Eric; Jackson, Kelly E.; Asamoah, Alexander; Dimmock, David; McCarrier, Julie; Botto, Lorenzo D.; Filloux, Francis; Tvrdik, Tatiana; Cascino, Gregory D.; Klingerman, Sherry; Neumann, Catherine; Wang, Raymond; Jacobsen, Jessie C.; Nolan, Melinda A.; Snell, Russell G.; Lehnert, Klaus; Sadleir, Lynette G.; Anderlid, Britt-Marie; Kvarnung, Malin; Guerrini, Renzo; Friez, Michael J.; Lyons, Michael J.; Leonhard, Jennifer; Kringlen, Gabriel; Casas, Kari; El Achkar, Christelle M.; Smith, Lacey A.; Rotenberg, Alexander; Poduri, Annapurna; Sanchis-Juan, Alba; Carss, Keren J.; Rankin, Julia; Zeman, Adam; Raymond, F. Lucy; Blyth, Moira; Kerr, Bronwyn; Ruiz, Karla; Urquhart, Jill; Hughes, Imelda; Banka, Siddharth; Hedrich, Ulrike B. S.; Scheffer, Ingrid E.; Helbig, Ingo; Zamponi, Gerald W.; Lerche, Holger; Mefford, Heather C.分享收藏A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendationsGENETICS IN MEDICINE2018-09-0134OAAILee, Eric; Le, Trang; Zhu, Ying; Elakis, George; Turner, Anne; Lo, William; Venselaar, Hanka; Verrenkamp, Carol-Ann; Snow, Nicole; Mowat, David; Kirk, Edwin Philip; Sachdev, Rani; Smith, Janine; Brown, Natasha Jane; Wallis, Mathew; Barnett, Chris; McKenzie, Fiona; Freckmann, Mary-Louise; Collins, Felicity; Chopra, Maya; Gregersen, Nerine; Hayes, Ian; Rajagopalan, Sulekha; Tan, Tiong Yang; Stark, Zornitza; Savarirayan, Ravi; Yeung, Alison; Ades, Lesley; Gattas, Michael; Gibson, Kate; Gabbett, Michael; Amor, David John; Lattanzi, Wanda; Boyd, Simeon; Haan, Eric; Gianoutsos, Mark; Cox, Timothy Chilton; Buckley, Michael Francis; Roscioli, Tony
GENETICS IN MEDICINEIF6.2
2018-09-0134OAAILee, Eric; Le, Trang; Zhu, Ying; Elakis, George; Turner, Anne; Lo, William; Venselaar, Hanka; Verrenkamp, Carol-Ann; Snow, Nicole; Mowat, David; Kirk, Edwin Philip; Sachdev, Rani; Smith, Janine; Brown, Natasha Jane; Wallis, Mathew; Barnett, Chris; McKenzie, Fiona; Freckmann, Mary-Louise; Collins, Felicity; Chopra, Maya; Gregersen, Nerine; Hayes, Ian; Rajagopalan, Sulekha; Tan, Tiong Yang; Stark, Zornitza; Savarirayan, Ravi; Yeung, Alison; Ades, Lesley; Gattas, Michael; Gibson, Kate; Gabbett, Michael; Amor, David John; Lattanzi, Wanda; Boyd, Simeon; Haan, Eric; Gianoutsos, Mark; Cox, Timothy Chilton; Buckley, Michael Francis; Roscioli, Tony分享收藏Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndromeCLINICAL EPIGENETICS2018-08-3012OAAIDagar, Vinod; Hutchison, Wendy; Muscat, Andrea; Krishnan, Anita; Hoke, David; Buckle, Ashley; Siswara, Priscillia; Amor, David J.; Mann, Jeffrey; Pinner, Jason; Colley, Alison; Wilson, Meredith; Sachdev, Rani; McGillivray, George; Edwards, Matthew; Kirk, Edwin; Collins, Felicity; Jones, Kristi; Taylor, Juliet; Hayes, Ian; Thompson, Elizabeth; Barnett, Christopher; Haan, Eric; Freckmann, Mary-Louise; Turner, Anne; White, Susan; Kamien, Ben; Ma, Alan; Mackenzie, Fiona; Baynam, Gareth; Kiraly-Borri, Cathy; Field, Michael; Dudding-Byth, Tracey; Algar, Elizabeth M.
CLINICAL EPIGENETICSIF4.4
2018-08-3012OAAIDagar, Vinod; Hutchison, Wendy; Muscat, Andrea; Krishnan, Anita; Hoke, David; Buckle, Ashley; Siswara, Priscillia; Amor, David J.; Mann, Jeffrey; Pinner, Jason; Colley, Alison; Wilson, Meredith; Sachdev, Rani; McGillivray, George; Edwards, Matthew; Kirk, Edwin; Collins, Felicity; Jones, Kristi; Taylor, Juliet; Hayes, Ian; Thompson, Elizabeth; Barnett, Christopher; Haan, Eric; Freckmann, Mary-Louise; Turner, Anne; White, Susan; Kamien, Ben; Ma, Alan; Mackenzie, Fiona; Baynam, Gareth; Kiraly-Borri, Cathy; Field, Michael; Dudding-Byth, Tracey; Algar, Elizabeth M.分享收藏Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate2018-06-0197OAAICox, Liza L.; Cox, Timothy C.; Uribe, Lina M. Moreno; Zhu, Ying; Richter, Chika T.; Nidey, Nichole; Standley, Jennifer M.; Deng, Mei; Blue, Elizabeth; Chong, Jessica X.; Yang, Yueqin; Carstens, Russ P.; Anand, Deepti; Lachke, Salil A.; Smith, Joshua D.; Dorschner, Michael O.; Bedell, Bruce; Kirk, Edwin; Hing, Anne, V; Venselaar, Hanka; Valencia-Ramirez, Luz C.; Bamshad, Michael J.; Glass, Ian A.; Cooper, Jonathan A.; Haan, Eric; Nickerson, Deborah A.; van Bokhoven, Hans; Zhou, Huiqing; Krahn, Katy N.; Buckley, Michael F.; Murray, Jeffrey C.; Lidral, Andrew C.; Roscioli, Tony
2018-06-0197OAAICox, Liza L.; Cox, Timothy C.; Uribe, Lina M. Moreno; Zhu, Ying; Richter, Chika T.; Nidey, Nichole; Standley, Jennifer M.; Deng, Mei; Blue, Elizabeth; Chong, Jessica X.; Yang, Yueqin; Carstens, Russ P.; Anand, Deepti; Lachke, Salil A.; Smith, Joshua D.; Dorschner, Michael O.; Bedell, Bruce; Kirk, Edwin; Hing, Anne, V; Venselaar, Hanka; Valencia-Ramirez, Luz C.; Bamshad, Michael J.; Glass, Ian A.; Cooper, Jonathan A.; Haan, Eric; Nickerson, Deborah A.; van Bokhoven, Hans; Zhou, Huiqing; Krahn, Katy N.; Buckley, Michael F.; Murray, Jeffrey C.; Lidral, Andrew C.; Roscioli, Tony分享收藏Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorderMOLECULAR PSYCHIATRY2018-05-0424OAAIFrints, Suzanna G. M.; Ozanturk, Aysegul; Rodriguez Criado, German; Grasshoff, Ute; de Hoon, Bas; Field, Michael; Manouvrier-Hanu, Sylvie; Hickey, Scott E.; Kammoun, Molka; Gripp, Karen W.; Bauer, Claudia; Schroeder, Christopher; Toutain, Annick; Mosher, Theresa Mihalic; Kelly, Benjamin J.; White, Peter; Dufke, Andreas; Rentmeester, Eveline; Moon, Sungjin; Koboldt, Daniel C.; van Roozendaal, Kees E. P.; Hu, Hao; Haas, Stefan A.; Ropers, Hans-Hilger; Murray, Lucinda; Haan, Eric; Shaw, Marie; Carroll, Renee; Friend, Kathryn; Liebelt, Jan; Hobson, Lynne; De Rademaeker, Marjan; Geraedts, Joep; Fryns, Jean-Pierre; Vermeesch, Joris; Raynaud, Martine; Riess, Olaf; Gribnau, Joost; Katsanis, Nicholas; Devriendt, Koen; Bauer, Peter; Gecz, Jozef; Golzio, Christelle; Gontan, Cristina; Kalscheuer, Vera M.
MOLECULAR PSYCHIATRYIF10.1
2018-05-0424OAAIFrints, Suzanna G. M.; Ozanturk, Aysegul; Rodriguez Criado, German; Grasshoff, Ute; de Hoon, Bas; Field, Michael; Manouvrier-Hanu, Sylvie; Hickey, Scott E.; Kammoun, Molka; Gripp, Karen W.; Bauer, Claudia; Schroeder, Christopher; Toutain, Annick; Mosher, Theresa Mihalic; Kelly, Benjamin J.; White, Peter; Dufke, Andreas; Rentmeester, Eveline; Moon, Sungjin; Koboldt, Daniel C.; van Roozendaal, Kees E. P.; Hu, Hao; Haas, Stefan A.; Ropers, Hans-Hilger; Murray, Lucinda; Haan, Eric; Shaw, Marie; Carroll, Renee; Friend, Kathryn; Liebelt, Jan; Hobson, Lynne; De Rademaeker, Marjan; Geraedts, Joep; Fryns, Jean-Pierre; Vermeesch, Joris; Raynaud, Martine; Riess, Olaf; Gribnau, Joost; Katsanis, Nicholas; Devriendt, Koen; Bauer, Peter; Gecz, Jozef; Golzio, Christelle; Gontan, Cristina; Kalscheuer, Vera M.分享收藏YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction2017-06-01128OAAIGabriele, Michele; Vulto-van Silfhout, Anneke T.; Germain, Pierre-Luc; Vitriolo, Alessandro; Kumar, Raman; Douglas, Evelyn; Haan, Eric; Kosaki, Kenjiro; Takenouchi, Toshiki; Rauch, Anita; Steindl, Katharina; Frengen, Eirik; Misceo, Doriana; Pedurupillay, Christeen Ramane J.; Stromme, Petter; Rosenfeld, Jill A.; Shao, Yunru; Craigen, William J.; Schaaf, Christian P.; Rodriguez-Buritica, David; Farach, Laura; Friedman, Jennifer; Thulin, Perla; McLean, Scott D.; Nugent, Kimberly M.; Morton, Jenny; Nicholl, Jillian; Andrieux, Joris; Stray-Pedersen, Asbjorg; Chambon, Pascal; Patrier, Sophie; Lynch, Sally A.; Kjaergaard, Susanne; Torring, Pernille M.; Brasch-Andersen, Charlotte; Ronan, Anne; van Haeringen, Arie; Anderson, Peter J.; Powis, Zoe; Brunner, Han G.; Pfundt, Rolph; Schuurs-Hoeijmakers, Janneke H. M.; van Bon, Bregje W. M.; Lelieveld, Stefan; Gilissen, Christian; Nillesen, Willy M.; Vissers, Lisenka E. L. M.; Gecz, Jozef; Koolen, David A.; Testa, Giuseppe; de Vries, Bert B. A.
2017-06-01128OAAIGabriele, Michele; Vulto-van Silfhout, Anneke T.; Germain, Pierre-Luc; Vitriolo, Alessandro; Kumar, Raman; Douglas, Evelyn; Haan, Eric; Kosaki, Kenjiro; Takenouchi, Toshiki; Rauch, Anita; Steindl, Katharina; Frengen, Eirik; Misceo, Doriana; Pedurupillay, Christeen Ramane J.; Stromme, Petter; Rosenfeld, Jill A.; Shao, Yunru; Craigen, William J.; Schaaf, Christian P.; Rodriguez-Buritica, David; Farach, Laura; Friedman, Jennifer; Thulin, Perla; McLean, Scott D.; Nugent, Kimberly M.; Morton, Jenny; Nicholl, Jillian; Andrieux, Joris; Stray-Pedersen, Asbjorg; Chambon, Pascal; Patrier, Sophie; Lynch, Sally A.; Kjaergaard, Susanne; Torring, Pernille M.; Brasch-Andersen, Charlotte; Ronan, Anne; van Haeringen, Arie; Anderson, Peter J.; Powis, Zoe; Brunner, Han G.; Pfundt, Rolph; Schuurs-Hoeijmakers, Janneke H. M.; van Bon, Bregje W. M.; Lelieveld, Stefan; Gilissen, Christian; Nillesen, Willy M.; Vissers, Lisenka E. L. M.; Gecz, Jozef; Koolen, David A.; Testa, Giuseppe; de Vries, Bert B. A.分享收藏