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E

Ewout J. N. Groen

umc utrecht brain center and utrecht university
H指数:35
被引数:4,927

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教育背景

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工作经历

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荣誉奖项

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Large-scale exome analyses reveal new rare variant contributions in amyotrophic lateral sclerosis

大规模外显子分析揭示了肌萎缩侧索硬化症中新的罕见变异贡献

Nature Genetics
IF29
2026-03-310
OAAI
Paul J. Hop; Maarten Kooyman; Brendan J. Kenna; Ramona A. J. Zwamborn; Kristel R. van Eijk; Yan Wang; Charlotte H. van Dijk; Erwin Bekema; Wouter van Rheenen; Paul Beele; Joke J. F. A. van Vugt; Ahmad Al Khleifat; Alfredo Iacoangeli; Johnathan Cooper-Knock; Bradley N. Smith; Simon Topp; Anneke J. van der Kooi; Vera Fominykh; Vivian Drory; Yossef Lerner; Yehuda Shovman; Dominic B. Rowe; Kelly L. Williams; Russell L. McLaughlin; Jessica Hurt; Yunfeng Huang; Chia-Yen Chen; Ellen Tsai; Heiko Runz; Eleonora Aronica; Ewout J. N. Groen; Michael A. van Es; R. Jeroen Pasterkamp; Sali M. K. Farhan; Fleur C. Garton; Allan F. McRae; Pamela A. McCombe; Robert D. Henderson; Dongsheng Fan; Lenka Šlachtová; Helle Høyer; Agnes L. Nishimura; Ruben J. Cauchi; Lev Brylev; Boris Rogelj; Blaž Koritnik; Janez Zidar; Teresa Salas; Jesus S. Mora Pardina; Marc Gotkine; Monica Povedano; Philippe Corcia; Patrick Vourc’h; Philippe Couratier; Markus Weber; Matthew C. Kiernan; Roger Pamphlett; Ian P. Blair; Mamede de Carvalho; Nazli A. Başak; Caroline Ingre; Peter M. Andersen; Lorne Zinman; Ekaterina Rogaeva; Ian R. MacKenzie; Nicolas Dupre; Guy A. Rouleau; Bryan J. Traynor; Nicola Ticozzi; Adriano Chiò; Vincenzo Silani; Orla Hardiman; Hemali Phatnani; Matthew B. Harms; Clifton L. Dalgard; Jonathan D. Glass; John E. Landers; Philip Van Damme; Karen E. Morrison; Pamela J. Shaw; Chris E. Shaw; Ammar Al-Chalabi; Leonard H. van den Berg; Kevin P. Kenna; Jan H. Veldink
Long-read sequencing identifies copy-specific markers of SMN gene conversion in spinal muscular atrophy

长读长测序鉴定脊髓性肌萎缩症中SMN基因转换的拷贝特异性标记

GENOME MEDICINE
IF11.2
2025-03-211
OA
Zwartkruis, M. M.; Elferink, M. G.; Gommers, D.; Signoria, I.; Blasco-Perez, L.; Costa-Roger, M.; van der Sel, J.; Renkens, I. J.; Green, J. W.; Kortooms, J. V.; Vermeulen, C.; Straver, R.; van Deutekom, H. W. M.; Veldink, J. H.; Asselman, F.; Tizzano, E. F.; Wadman, R. I.; van der Pol, W. L.; van Haaften, G. W.; Groen, E. J. N.
A de novo deletion underlying spinal muscular atrophy: implications for carrier testing and genetic counseling

脊髓性肌萎缩症的从头删除: 对携带者检测和遗传咨询的影响

HUMAN MOLECULAR GENETICS
IF3.2
2025-03-010
OAAI
Zwartkruis, Maria M.; de Pagter, Mirjam S.; Gommers, Demi; Koopmans, Marije; Ottenheim, Cecile P. E.; Kortooms, Joris, V; Albring, Mirjan; Elferink, Martin G.; Wadman, Renske, I; Asselman, Fay-Lynn; Cuppen, Inge; van der Pol, W. Ludo; Nelen, Marcel R.; van Haaften, Gijs W.; Groen, Ewout J. N.
Molecular pathology, developmental changes and synaptic dysfunction in (pre-) symptomatic human C9ORF72-ALS/FTD cerebral organoids
ACTA NEUROPATHOLOGICA COMMUNICATIONS
IF5.7
2024-09-180
OAAI
van der Geest, Astrid T.; Jakobs, Channa E.; Ljubikj, Tijana; Huffels, Christiaan F. M.; Luna, Marta Canizares; de Sa, Renata Vieira; Adolfs, Youri; de Wit, Marina; Rutten, Daan H.; Kaal, Marthe; Zwartkruis, Maria M.; Carcole, Mireia; Groen, Ewout J. N.; Hol, Elly M.; Basak, Onur; Isaacs, Adrian M.; Westeneng, Henk-Jan; van den Berg, Leonard H.; Veldink, Jan H.; Schlegel, Domino K.; Pasterkamp, R. Jeroen
Neurofilament light protein as a biomarker for spinal muscular atrophy: a review and reference ranges

神经丝光蛋白作为脊髓性肌萎缩的生物标志物: 综述和参考范围

CLINICAL CHEMISTRY AND LABORATORY MEDICINE
IF3.7
2024-01-1511
OA
Bayoumy, Sherif; Verberk, Inge M. W.; Vermunt, Lisa; Willemse, Eline; den Dulk, Ben; van der Ploeg, Ans T.; Pajkrt, Dasja; Nitz, Elisa; van den Hout, Johanna M. P.; van der Post, Julie; Wolf, Nicole I.; Beerepoot, Shanice; Groen, Ewout J. N.; Tuengler, Victoria; Teunissen, Charlotte E.
Population-based assessment of nusinersen efficacy in children with spinal muscular atrophy: a 3-year follow-up study

基于人群的nusinersen治疗儿童脊髓性肌萎缩症疗效评估: 一项3年随访研究

BRAIN COMMUNICATIONS
IF4.5
2022-10-3123
OAAI
Scheijmans, Feline E., V; Cuppen, Inge; van Eijk, Ruben P. A.; Wijngaarde, Camiel A.; Schoenmakers, Marja A. G. C.; van der Woude, Danny R.; Bartels, Bart; Veldhoen, Esther S.; Lansink, Irene L. B. Oude; Groen, Ewout J. N.; Asselman, Fay-Lynn; Wadman, Renske, I; van der Pol, W. Ludo
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology (vol 53, pg 1636, 2021)

肌萎缩性侧索硬化症的常见和罕见变异关联分析确定了15个具有不同遗传结构和神经元特异性生物学的风险位点 (第53卷，1636页，2021)

NATURE GENETICS
IF31.8
2022-01-311
OAAI
van Rheenen, Wouter; van der Spek, Rick A. A.; Bakker, Mark K.; van Vugt, Joke J. F. A.; Hop, Paul J.; Zwamborn, Ramona A. J.; de Klein, Niek; Westra, Harm-Jan; Bakker, Olivier B.; Deelen, Patrick; Shireby, Gemma; Hannon, Eilis; Moisse, Matthieu; Baird, Denis; Restuadi, Restuadi; Dolzhenko, Egor; Dekker, Annelot M.; Gawor, Klara; Westeneng, Henk-Jan; Tazelaar, Gijs H. P.; van Eijk, Kristel R.; Kooyman, Maarten; Byrne, Ross P.; Doherty, Mark; Heverin, Mark; Al Khleifat, Ahmad; Iacoangeli, Alfredo; Shatunov, Aleksey; Ticozzi, Nicola; Cooper-Knock, Johnathan; Smith, Bradley N.; Gromicho, Marta; Chandran, Siddharthan; Pal, Suvankar; Morrison, Karen E.; Shaw, Pamela J.; Hardy, John; Orrell, Richard W.; Sendtner, Michael; Meyer, Thomas; Basak, Nazli; van der Kooi, Anneke J.; Ratti, Antonia; Fogh, Isabella; Gellera, Cinzia; Lauria, Giuseppe; Corti, Stefania; Cereda, Cristina; Sproviero, Daisy; D'Alfonso, Sandra; Soraru, Gianni; Siciliano, Gabriele; Filosto, Massimiliano; Padovani, Alessandro; Chio, Adriano; Calvo, Andrea; Moglia, Cristina; Brunetti, Maura; Canosa, Antonio; Grassano, Maurizio; Beghi, Ettore; Pupillo, Elisabetta; Logroscino, Giancarlo; Nefussy, Beatrice; Osmanovic, Alma; Nordin, Angelica; Lerner, Yossef; Zabari, Michal; Gotkine, Marc; Baloh, Robert H.; Bell, Shaughn; Vourc'h, Patrick; Corcia, Philippe; Couratier, Philippe; Millecamps, Stephanie; Meininger, Vincent; Salachas, Francois; Mora Pardina, Jesus S.; Assialioui, Abdelilah; Rojas-Garcia, Ricardo; Dion, Patrick A.; Ross, Jay P.; Ludolph, Albert C.; Weishaupt, Jochen H.; Brenner, David; Freischmidt, Axel; Bensimon, Gilbert; Brice, Alexis; Durr, Alexandra; Payan, Christine A. M.; Saker-Delye, Safa; Wood, Nicholas W.; Topp, Simon; Rademakers, Rosa; Tittmann, Lukas; Lieb, Wolfgang; Franke, Andre; Ripke, Stephan; Braun, Alice; Kraft, Julia; Whiteman, David C.; Olsen, Catherine M.; Uitterlinden, Andre G.; Hofman, Albert; Rietschel, Marcella; Cichon, Sven; Nothen, Markus M.; Amouyel, Philippe; Comi, Giancarlo; Riva, Nilo; Lunetta, Christian; Gerardi, Francesca; Cotelli, Maria Sofia; Rinaldi, Fabrizio; Chiveri, Luca; Guaita, Maria Cristina; Perrone, Patrizia; Ceroni, Mauro; Diamanti, Luca; Ferrarese, Carlo; Tremolizzo, Lucio; Delodovici, Maria Luisa; Bono, Giorgio; Manera, Umberto; Vasta, Rosario; Bombaci, Alessandro; Casale, Federico; Fuda, Giuseppe; Salamone, Paolina; Iazzolino, Barbara; Peotta, Laura; Cugnasco, Paolo; De Marco, Giovanni; Torrieri, Maria Claudia; Palumbo, Francesca; Gallone, Salvatore; Barberis, Marco; Sbaiz, Luca; Gentile, Salvatore; Mauro, Alessandro; Mazzini, Letizia; De Marchi, Fabiola; Corrado, Lucia; D'Alfonso, Sandra; Bertolotto, Antonio; Gionco, Maurizio; Leotta, Daniela; Odddenino, Enrico; Imperiale, Daniele; Cavallo, Roberto; Pignatta, Pietro; De Mattei, Marco; Geda, Claudio; Papurello, Diego Maria; Gusmaroli, Graziano; Comi, Cristoforo; Labate, Carmelo; Ruiz, Luigi; Ferrandi, Delfina; Rota, Eugenia; Aguggia, Marco; Di Vito, Nicoletta; Meineri, Piero; Ghiglione, Paolo; Launaro, Nicola; Dotta, Michele; Di Sapio, Alessia; Giardini, Guido; Tiloca, Cinzia; Peverelli, Silvia; Taroni, Franco; Pensato, Viviana; Castellotti, Barbara; Comi, Giacomo P.; Del Bo, Roberto; Ceroni, Mauro; Gagliardi, Stella; Corrado, Lucia; Mazzini, Letizia; Raggi, Flavia; Simoncini, Costanza; Lo Gerfo, Annalisa; Inghilleri, Maurizio; Ferlini, Alessandra; Simone, Isabella L.; Passarella, Bruno; Guerra, Vito; Zoccolella, Stefano; Nozzoli, Cecilia; Mundi, Ciro; Leone, Maurizio; Zarrelli, Michele; Tamma, Filippo; Valluzzi, Francesco; Calabrese, Gianluigi; Boero, Giovanni; Rini, Augusto; Traynor, Bryan J.; Singleton, Andrew B.; Mitne Neto, Miguel; Cauchi, Ruben J.; Ophoff, Roel A.; Wiedau-Pazos, Martina; Lomen-Hoerth, Catherine; van Deerlin, Vivianna M.; Grosskreutz, Julian; Roediger, Annekathrin; Gaur, Nayana; Joerk, Alexander; Barthel, Tabea; Theele, Erik; Ilse, Benjamin; Stubendorff, Beatrice; Witte, Otto W.; Steinbach, Robert; Huebner, Christian A.; Graff, Caroline; Brylev, Lev; Fominykh, Vera; Demeshonok, Vera; Ataulina, Anastasia; Rogelj, Boris; Koritnik, Blaz; Zidar, Janez; Ravnik-Glavac, Metka; Glavac, Damjan; Stevic, Zorica; Drory, Vivian; Povedano, Monica; Blair, Ian P.; Kiernan, Matthew C.; Benyamin, Beben; Henderson, Robert D.; Furlong, Sarah; Mathers, Susan; McCombe, Pamela A.; Needham, Merrilee; Ngo, Shyuan T.; Nicholson, Garth A.; Pamphlett, Roger; Rowe, Dominic B.; Steyn, Frederik J.; Williams, Kelly L.; Mather, Karen A.; Sachdev, Perminder S.; Henders, Anjali K.; Wallace, Leanne; de Carvalho, Mamede; Pinto, Susana; Petri, Susanne; Weber, Markus; Rouleau, Guy A.; Silani, Vincenzo; Curtis, Charles J.; Breen, Gerome; Glass, Jonathan D.; Brown, Robert H., Jr.; Landers, John E.; Shaw, Christopher E.; Andersen, Peter M.; Groen, Ewout J. N.; van Es, Michael A.; Pasterkamp, R. Jeroen; Fan, Dongsheng; Garton, Fleur C.; McRae, Allan F.; Davey Smith, George; Gaunt, Tom R.; Eberle, Michael A.; Mill, Jonathan; McLaughlin, Russell L.; Hardiman, Orla; Kenna, Kevin P.; Wray, Naomi R.; Tsai, Ellen; Runz, Heiko; Franke, Lude; Al-Chalabi, Ammar; Van Damme, Philip; van den Berg, Leonard H.; Veldink, Jan H.
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

肌萎缩性侧索硬化症的常见和罕见变异关联分析确定了15个具有不同遗传结构和神经元特异性生物学的风险位点

NATURE GENETICS
IF31.8
2021-12-06235
OAAI
van Rheenen, Wouter; van der Spek, Rick A. A.; Bakker, Mark K.; van Vugt, Joke J. F. A.; Hop, Paul J.; Zwamborn, Ramona A. J.; de Klein, Niek; Westra, Harm-Jan; Bakker, Olivier B.; Deelen, Patrick; Shireby, Gemma; Hannon, Eilis; Moisse, Matthieu; Baird, Denis; Restuadi, Restuadi; Dolzhenko, Egor; Dekker, Annelot M.; Gawor, Klara; Westeneng, Henk-Jan; Tazelaar, Gijs H. P.; van Eijk, Kristel R.; Kooyman, Maarten; Byrne, Ross P.; Doherty, Mark; Heverin, Mark; Al Khleifat, Ahmad; Iacoangeli, Alfredo; Shatunov, Aleksey; Ticozzi, Nicola; Cooper-Knock, Johnathan; Smith, Bradley N.; Gromicho, Marta; Chandran, Siddharthan; Pal, Suvankar; Morrison, Karen E.; Shaw, Pamela J.; Hardy, John; Orrell, Richard W.; Sendtner, Michael; Meyer, Thomas; Basak, Nazli; van der Kooi, Anneke J.; Ratti, Antonia; Fogh, Isabella; Gellera, Cinzia; Lauria, Giuseppe; Corti, Stefania; Cereda, Cristina; Sproviero, Daisy; D'Alfonso, Sandra; Soraru, Gianni; Siciliano, Gabriele; Filosto, Massimiliano; Padovani, Alessandro; Chio, Adriano; Calvo, Andrea; Moglia, Cristina; Brunetti, Maura; Canosa, Antonio; Grassano, Maurizio; Beghi, Ettore; Pupillo, Elisabetta; Logroscino, Giancarlo; Nefussy, Beatrice; Osmanovic, Alma; Nordin, Angelica; Lerner, Yossef; Zabari, Michal; Gotkine, Marc; Baloh, Robert H.; Bell, Shaughn; Vourc'h, Patrick; Corcia, Philippe; Couratier, Philippe; Millecamps, Stephanie; Meininger, Vincent; Salachas, Francois; Mora Pardina, Jesus S.; Assialioui, Abdelilah; Rojas-Garcia, Ricardo; Dion, Patrick A.; Ross, Jay P.; Ludolph, Albert C.; Weishaupt, Jochen H.; Brenner, David; Freischmidt, Axel; Bensimon, Gilbert; Brice, Alexis; Durr, Alexandra; Payan, Christine A. M.; Saker-Delye, Safa; Wood, Nicholas W.; Topp, Simon; Rademakers, Rosa; Tittmann, Lukas; Lieb, Wolfgang; Franke, Andre; Ripke, Stephan; Braun, Alice; Kraft, Julia; Whiteman, David C.; Olsen, Catherine M.; Uitterlinden, Andre G.; Hofman, Albert; Rietschel, Marcella; Cichon, Sven; Nothen, Markus M.; Amouyel, Philippe; Comi, Giancarlo; Riva, Nilo; Lunetta, Christian; Gerardi, Francesca; Cotelli, Maria Sofia; Rinaldi, Fabrizio; Chiveri, Luca; Guaita, Maria Cristina; Perrone, Patrizia; Ceroni, Mauro; Diamanti, Luca; Ferrarese, Carlo; Tremolizzo, Lucio; Delodovici, Maria Luisa; Bono, Giorgio; Manera, Umberto; Vasta, Rosario; Bombaci, Alessandro; Casale, Federico; Fuda, Giuseppe; Salamone, Paolina; Iazzolino, Barbara; Peotta, Laura; Cugnasco, Paolo; De Marco, Giovanni; Torrieri, Maria Claudia; Palumbo, Francesca; Gallone, Salvatore; Barberis, Marco; Sbaiz, Luca; Gentile, Salvatore; Mauro, Alessandro; Mazzini, Letizia; De Marchi, Fabiola; Corrado, Lucia; D'Alfonso, Sandra; Bertolotto, Antonio; Gionco, Maurizio; Leotta, Daniela; Odddenino, Enrico; Imperiale, Daniele; Cavallo, Roberto; Pignatta, Pietro; De Mattei, Marco; Geda, Claudio; Papurello, Diego Maria; Gusmaroli, Graziano; Comi, Cristoforo; Labate, Carmelo; Ruiz, Luigi; Ferrandi, Delfina; Rota, Eugenia; Aguggia, Marco; Di Vito, Nicoletta; Meineri, Piero; Ghiglione, Paolo; Launaro, Nicola; Dotta, Michele; Di Sapio, Alessia; Giardini, Guido; Tiloca, Cinzia; Peverelli, Silvia; Taroni, Franco; Pensato, Viviana; Castellotti, Barbara; Comi, Giacomo P.; Del Bo, Roberto; Ceroni, Mauro; Gagliardi, Stella; Corrado, Lucia; Mazzini, Letizia; Raggi, Flavia; Simoncini, Costanza; Lo Gerfo, Annalisa; Inghilleri, Maurizio; Ferlini, Alessandra; Simone, Isabella L.; Passarella, Bruno; Guerra, Vito; Zoccolella, Stefano; Nozzoli, Cecilia; Mundi, Ciro; Leone, Maurizio; Zarrelli, Michele; Tamma, Filippo; Valluzzi, Francesco; Calabrese, Gianluigi; Boero, Giovanni; Rini, Augusto; Traynor, Bryan J.; Singleton, Andrew B.; Mitne Neto, Miguel; Cauchi, Ruben J.; Ophoff, Roel A.; Wiedau-Pazos, Martina; Lomen-Hoerth, Catherine; van Deerlin, Vivianna M.; Grosskreutz, Julian; Roediger, Annekathrin; Gaur, Nayana; Joerk, Alexander; Barthel, Tabea; Theele, Erik; Ilse, Benjamin; Stubendorff, Beatrice; Witte, Otto W.; Steinbach, Robert; Huebner, Christian A.; Graff, Caroline; Brylev, Lev; Fominykh, Vera; Demeshonok, Vera; Ataulina, Anastasia; Rogelj, Boris; Koritnik, Blaz; Zidar, Janez; Ravnik-Glavac, Metka; Glavac, Damjan; Stevic, Zorica; Drory, Vivian; Povedano, Monica; Blair, Ian P.; Kiernan, Matthew C.; Benyamin, Beben; Henderson, Robert D.; Furlong, Sarah; Mathers, Susan; McCombe, Pamela A.; Needham, Merrilee; Ngo, Shyuan T.; Nicholson, Garth A.; Pamphlett, Roger; Rowe, Dominic B.; Steyn, Frederik J.; Williams, Kelly L.; Mather, Karen A.; Sachdev, Perminder S.; Henders, Anjali K.; Wallace, Leanne; de Carvalho, Mamede; Pinto, Susana; Petri, Susanne; Weber, Markus; Rouleau, Guy A.; Silani, Vincenzo; Curtis, Charles J.; Breen, Gerome; Glass, Jonathan D.; Brown, Robert H., Jr.; Landers, John E.; Shaw, Christopher E.; Andersen, Peter M.; Groen, Ewout J. N.; van Es, Michael A.; Pasterkamp, R. Jeroen; Fan, Dongsheng; Garton, Fleur C.; McRae, Allan F.; Davey Smith, George; Gaunt, Tom R.; Eberle, Michael A.; Mill, Jonathan; McLaughlin, Russell L.; Hardiman, Orla; Kenna, Kevin P.; Wray, Naomi R.; Tsai, Ellen; Runz, Heiko; Franke, Lude; Al-Chalabi, Ammar; Van Damme, Philip; van den Berg, Leonard H.; Veldink, Jan H.

研究方向

暂未获取到该数据
T
Thomas H. Gillingwater
H 指数:64论文数:270被引数:1.5万
J
Jan H. Veldink
H 指数:106论文数:568被引数:4.5万
R
R. Jeroen Pasterkamp
H 指数:73论文数:292被引数:1.8万
W
W. Ludo van der Pol
H 指数:45论文数:205被引数:6,375
L
Leonard H. van den Berg
H 指数:90论文数:448被引数:2.9万
W
Wouter van Rheenen
H 指数:44论文数:114被引数:1.1万
M
Max Koppers
H 指数:22论文数:46被引数:4,392
R
Renske I. Wadman
H 指数:30论文数:75被引数:2,477
M
Michael A. van Es
H 指数:56论文数:186被引数:1.4万
L
Leonard H. van den Berg
H 指数:78论文数:322被引数:2.6万