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S

Sandra Coppens

university hospital erasme-ulb
H指数:20
被引数:2,470

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Multicentric Longitudinal Performance Monitoring of Different Prenatal Cell-Free DNA Screening Technologies in Belgium

比利时多中心纵向监测不同产前游离DNA筛查技术的性能

Prenatal Diagnosis
IF2.7
2026-09-220
OAAI
Armelle Duquenne; Nathalie Brison; Ilse Parijs; Angelica Pagliazzi; Machteld Baetens; Bettina Blaumeiser; Marie Bruneau; Saskia Bulk; Bert Callewaert; Sandra Coppens; Michelle Deberg; Anne De Leener; Marjan De Rademaeker; Julie Désir; Koenraad Devriendt; Annelies Fieuw; Jean-Stéphane Gatot; Mauricette Jamar; Sandra Janssens; Lore Lannoo; Axel Marichal; Björn Menten; Colombine Meunier; Bruno Pichon; Sonia Rombout; Ileen Slegers; Yves Sznajer; Olivier Vanakker; Kim Van Berkel; Leen Vancoillie; Ann Van Den Bogaert; Isabelle Vandernoot; Kris Van Den Bogaert; Joris R. Vermeesch; Katrien Janssens
Loss of function of retinol dehydrogenase 11 causes a recessive syndrome characterized by myopathy, retinal dystrophy, juvenile cataracts, and microcephaly

视黄醇脱氢酶11功能丧失导致一种隐性综合征，其特征为肌病、视网膜营养不良、青少年白内障和小头畸形。

Genetics in Medicine
IF6.2
2026-03-250
PRE
Francesca Clementina Radio; Giorgio Tasca; Sandra Coppens; Giovanni Chillemi; Sandra Whalen; Isabelle Marey; Chiara Leoni; Roberta Onesimo; Nicolas Deconinck; Adele D’Amico; Gauthier Remiche; Andres Nascimento; Carlos Ortez; Cristina Jou; Sophie Lecomte; Benedetto Falsini; Andrea Ciolfi; Marco Ferilli; Camilla Cappelletti; Marcello Niceta
Porcine hemagglutinating encephalomyelitis virus VW572 (not Gent/PS412 and Labadie) uses the CD81 receptor and MVB-derived exosomal pathway for efficient entry and spread in neuronal cells

猪血凝性脑脊髓炎病毒VW572（非Gent/PS412和Labadie）利用CD81受体和MVB衍生的外泌体通路，以实现高效进入并在神经元细胞中传播。

JOURNAL OF VIROLOGY
IF3.8
2025-10-010
PRE
Zaib, W.; Kaviani, C.; Kang, X.; Gao, Y.; Vanden Broucke, F.; Van den Broeck, W.; Coppens, S.; Theuns, S.; Nauwynck, H.; Laval, K.
Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization

CNOT3-related神经发育障碍的综合分析: 表型和基因型特征

European Journal of Human Genetics
IF4.6
2025-06-250
PRE
Camille Engel; Michaela Rendek; Jessica Assoumani; Emanuela Argilli; Francesca Ariani; Anne-Laude Avice-Denizet; Emilia K. Bijlsmaa; Pierre Blanc; Lucia Pia Bruno; Bert Callewaert; Valeria Capra; Michele Carullo; Bertrand Chesneau; Sandra Coppens; Cynthia Curry; Breanne Dale; Eric Dahlen; Andrée Delahaye-Duriez; Anne-Sophie Denommé-Pichon; Bénédicte Demeer; Lenka Dvořáková; Jan Fischer; David Geneviève; Thea Giacomini; Mette M. Handrup; Delphine Heron; Irina Hüning; Michelle Iacomino; Bertrand Isidor; Boris Keren; Stanislav Kmoch; David A. Koolen; Andrea Kübler; Jana Laštůvková; Carolyn Le; Jonathan Levy; Caterina Lo Rizzo; Silvia Maitz; Sandrine Marlin; Cyril Mignot; Ghayda Mirzaa; Inga Nagel; Sebastian Neuens; Lenka Nosková; Emily Pao; Anna Pecková; Julie Plaisancie; Joseph Porrmann; Flavia Privitera; André Reis; Alessandra Renieri; Marlène Rio; Alyssa Rippert; Lukáš Ryba; Marcello Scala; Jolanda H. Schieving; Elliott H. Sherr; Andrew Shuen; Richard Sidlow; Thomas Smol; Julie Soblet; Pasquale Striano; Mohnish Suri; Hannes Syryn; Frédéric Tran Mau-Them; Andre M. Travessa; Julien Van Gils; Georgia Vasileiou; Jolijn J. A. Verseput; Catheline Vilain; Catherine Vincent-Delorme; Emílie Vyhnálková; Emma L. Wakeling; Pia Zacher; Federico Zara; Paul Kuentz; Juliette Piard
Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum
ANNALS OF NEUROLOGY
IF7.7
2025-01-240
OAAI
Coppens, Sandra; Deconinck, Nicolas; Sullivan, Patricia; Smolnikov, Andrei; Clayton, Joshua S.; Griffin, Kaitlyn R.; Jones, Kristi J.; Vilain, Catheline N.; Kadhim, Hazim; Bryen, Samantha J.; Faiz, Fathimath; Waddell, Leigh B.; Evesson, Frances J.; Bakshi, Madhura; Pinner, Jason R.; Charlton, Amanda; Brammah, Susan; Graf, Nicole S.; Krivanek, Michael; Tay, Chee Geap; Foulds, Nicola C.; Illingworth, Marjorie A.; Thomas, Neil H.; Ellard, Sian; Mazanti, Ingrid; Park, Soo-Mi; French, Courtney E.; Brewster, Jennifer; Belteki, Gusztav; Hoodbhoy, Shazia; Allinson, Kieren; Krishnakumar, Deepa; Baynam, Gareth; Wood, Bradley M.; Ward, Michelle; Vijayakumar, Kayal; Syed, Amber; Murugan, Archana; Majumdar, Anirban; Scurr, Ingrid J.; Splitt, Miranda P.; Moldovan, Corina; de Silva, Deepthi C.; Senanayake, Kumudu; Gardeitchik, Thatjana; Arens, Yvonne; Cooper, Sandra T.; Laing, Nigel G.; Raymond, F. Lucy; Jungbluth, Heinz; Kamsteeg, Erik-Jan; Manzur, Adnan; Corley, Susan M.; Ravenscroft, Gianina; Wilkins, Marc R.; Cowley, Mark J.; Pinese, Mark; Phadke, Rahul; Davis, Mark R.; Muntoni, Francesco; Oates, Emily C.
Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations ( vol 32, pg 1086, 2024)
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2024-09-100
PRE
Vanbelleghem, Eva; Van Damme, Tim; Beyens, Aude; Symoens, Sofie; Claes, Kathleen; De Backer, Julie; Meerschaut, Ilse; Vanommeslaeghe, Floris; Delanghe, Sigurd E.; van den Ende, Jenneke; Beyltjens, Tessi; Scimone, Eleanor R.; Lindsay, Mark E.; Schimmenti, Lisa A.; Hinze, Alicia M.; Dunn, Emily; Gomez-Ospina, Natalia; Vandernoot, Isabelle; Delguste, Thomas; Coppens, Sandra; Cormier-Daire, Valerie; Tartaglia, Marco; Garavelli, Livia; Shieh, Joseph; Demir, Senol; Arslan Ates, Esra; Zenker, Martin; Rohanizadegan, Mersedeh; Rivera-Cruz, Greysha; Douzgou, Sofia; Smith, Justin; Simkins, Jessica; Clark, Don; Karatsinides, Stephanie; Taylor, Sandy; White, Ines; Schultz, Patti; Wears, Kate; Holder, Levi; Young, Kathy; Lin, Angela E.; Callewaert, Bert
Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2024-07-124
PRE
Vanbelleghem, Eva; Van Damme, Tim; Beyens, Aude; Symoens, Sofie; Claes, Kathleen; De Backer, Julie; Meerschaut, Ilse; Vanommeslaeghe, Floris; Delanghe, Sigurd E.; van den Ende, Jenneke; Beyltjens, Tessi; Scimone, Eleanor R.; Lindsay, Mark E.; Schimmenti, Lisa A.; Hinze, Alicia M.; Dunn, Emily; Gomez-Ospina, Natalia; Vandernoot, Isabelle; Delguste, Thomas; Coppens, Sandra; Cormier-Daire, Valerie; Tartaglia, Marco; Garavelli, Livia; Shieh, Joseph; Demir, Senol; Ates, Esra Arslan; Zenker, Martin; Rohanizadegan, Mersedeh; Rivera-Cruz, Greysha; Douzgou, Sofia; Smith, Justin; Simkins, Jessica; Clark, Don; Karatsinides, Stephanie; Taylor, Sandy; White, Ines; Schultz, Patti; Wears, Kate; Holder, Levi; Young, Kathy; Lin, Angela E.; Callewaert, Bert
Retrospective detection of asymptomatic monkeypox virus infections among male sexual health clinic attendees in Belgium
NATURE MEDICINE
IF50
2022-08-12178
OAAI
De Baetselier, Irith; Van Dijck, Christophe; Kenyon, Chris; Coppens, Jasmine; Michiels, Johan; de Block, Tessa; Smet, Hilde; Coppens, Sandra; Vanroye, Fien; Bugert, Joachim Jakob; Girl, Philipp; Zange, Sabine; Liesenborghs, Laurens; Brosius, Isabel; van Griensven, Johan; Selhorst, Philippe; Florence, Eric; Van den Bossche, Dorien; Arien, Kevin K.; Rezende, Antonio Mauro; Vercauteren, Koen; Van Esbroeck, Marjan
Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies
ACTA NEUROPATHOLOGICA COMMUNICATIONS
IF5.7
2022-07-0915
OA
Labasse, Clemence; Brochier, Guy; Taratuto, Ana-Lia; Cadot, Bruno; Rendu, John; Monges, Soledad; Biancalana, Valerie; Quijano-Roy, Susana; Bui, Mai Thao; Chanut, Anais; Madelaine, Angeline; Lacene, Emmanuelle; Beuvin, Maud; Amthor, Helge; Servais, Laurent; de Feraudy, Yvan; Erro, Marcela; Saccoliti, Maria; Abath Neto, Osorio; Faure, Julien; Lannes, Beatrice; Laugel, Vincent; Coppens, Sandra; Lubieniecki, Fabiana; Bello, Ana Buj; Laing, Nigel; Evangelista, Teresinha; Laporte, Jocelyn; Bohm, Johann; Romero, Norma B.
A form of muscular dystrophy associated with pathogenic variants in JAG2 (vol 108, pg 840, 2021)
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2021-06-015
OAAI
Coppens, Sandra; Barnard, Alison M.; Puusepp, Sanna; Pajusalu, Sander; Ounap, Katrin; Vargas-Franco, Dorianmarie; Bruels, Christine C.; Donkervoort, Sandra; Pais, Lynn; Chao, Katherine R.; Goodrich, Julia K.; England, Eleina M.; Weisburd, Ben; Ganesh, Vijay S.; Gudmundsson, Sanna; O'Donnell-Luria, Anne; Nigul, Mait; Ilves, Pilvi; Mohassel, Payam; Siddique, Teepu; Milone, Margherita; Nicolau, Stefan; Maroofian, Reza; Houlden, Henry; Hanna, Michael G.; Quinlivan, Ros; Toosi, Mehran Beiraghi; Karimiani, Ehsan Ghayoor; Costagliola, Sabine; Deconinck, Nicolas; Kadhim, Hazim; Macke, Erica; Lanpher, Brendan C.; Klee, Eric W.; Lusakowska, Anna; Kostera-Pruszczyk, Anna; Hahn, Andreas; Schrank, Bertold; Nishino, Ichizo; Ogasawara, Masashi; El Sherif, Rasha; Stojkovic, Tanya; Nelson, Isabelle; Bonne, Gisele; Cohen, Enzo; Boland-Auge, Anne; Deleuze, Jean-Francois; Meng, Yao; Topf, Ana; Vilain, Catheline; Pacak, Christina A.; Rivera-Zengotita, Marie L.; Bonnemann, Carsten G.; Straub, Volker; Handford, Penny A.; Draper, Isabelle; Walter, Glenn A.; Kang, Peter B.
A form of muscular dystrophy associated with pathogenic variants in JAG2
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2021-05-0116
OAAI
Coppens, Sandra; Barnard, Alison M.; Puusepp, Sanna; Pajusalu, Sander; Ounap, Katrin; Vargas-Franco, Dorianmarie; Bruels, Christine C.; Donkervoort, Sandra; Pais, Lynn; Chao, Katherine R.; Goodrich, Julia K.; England, Eleina M.; Weisburd, Ben; Ganesh, Vijay S.; Gudmundsson, Sanna; O'Donnell-Luria, Anne; Nigul, Mait; Ilves, Pilvi; Mohassel, Payam; Siddique, Teepu; Milone, Margherita; Nicolau, Stefan; Maroofian, Reza; Houlden, Henry; Hanna, Michael G.; Quinlivan, Ros; Toosi, Mehran Beiraghi; Karimiani, Ehsan Ghayoor; Costagliola, Sabine; Deconinck, Nicolas; Kadhim, Hazim; Macke, Erica; Lanpher, Brendan C.; Klee, Eric W.; Lusakowska, Anna; Kostera-Pruszczyk, Anna; Hahn, Andreas; Schrank, Bertold; Nishino, Ichizo; Ogasawara, Masashi; El Sherif, Rasha; Stojkovic, Tanya; Nelson, Isabelle; Bonne, Gisele; Cohen, Enzo; Boland-Auge, Anne; Deleuze, Jean-Francois; Meng, Yao; Topf, Ana; Vilain, Catheline; Pacak, Christina A.; Rivera-Zengotita, Marie L.; Bonnemann, Carsten G.; Straub, Volker; Handford, Penny A.; Draper, Isabelle; Walter, Glenn A.; Kang, Peter B.
ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy
ANNALS OF NEUROLOGY
IF7.7
2019-12-2712
OAAI
Villar-Quiles, Rocio N.; Catervi, Fabio; Cabet, Eva; Juntas-Morales, Raul; Genetti, Casie A.; Gidaro, Teresa; Koparir, Asuman; Yuksel, Adnan; Coppens, Sandra; Deconinck, Nicolas; Pierce-Hoffman, Emma; Lornage, Xaviere; Durigneux, Julien; Laporte, Jocelyn; Rendu, John; Romero, Norma B.; Beggs, Alan H.; Servais, Laurent; Cossee, Mireille; Olive, Montse; Bohm, Johann; Duband-Goulet, Isabelle; Ferreiro, Ana
Congenital Titinopathy: Comprehensive characterization and pathogenic insights
ANNALS OF NEUROLOGY
IF7.7
2018-07-2793
OAAI
Oates, Emily C.; Jones, Kristi J.; Donkervoort, Sandra; Charlton, Amanda; Brammah, Susan; Smith, John E.; Ware, James S.; Yau, Kyle S.; Swanson, Lindsay C.; Whiffin, Nicola; Peduto, Anthony J.; Bournazos, Adam; Waddell, Leigh B.; Farrar, Michelle A.; Sampaio, Hugo A.; Teoh, Hooi Ling; Lamont, Phillipa J.; Mowat, David; Fitzsimons, Robin B.; Corbett, Alastair J.; Ryan, Monique M.; O'Grady, Gina L.; Sandaradura, Sarah A.; Ghaoui, Roula; Joshi, Himanshu; Marshall, Jamie L.; Nolan, Melinda A.; Kaur, Simranpreet; Punetha, Jaya; Toepf, Ana; Harris, Elizabeth; Bakshi, Madhura; Genetti, Casie A.; Marttila, Minttu; Werlauff, Ulla; Streichenberger, Nathalie; Pestronk, Alan; Mazanti, Ingrid; Pinner, Jason R.; Vuillerot, Carole; Grosmann, Carla; Camacho, Ana; Mohassel, Payam; Leach, Meganne E.; Foley, A. Reghan; Bharucha-Goebel, Diana; Collins, James; Connolly, Anne M.; Gilbreath, Heather R.; Iannaccone, Susan T.; Castro, Diana; Cummings, Beryl B.; Webster, Richard I.; Lazaro, Leila; Vissing, John; Coppens, Sandra; Deconinck, Nicolas; Luk, Ho-Ming; Thomas, Neil H.; Foulds, Nicola C.; Illingworth, Marjorie A.; Ellard, Sian; McLean, Catriona A.; Phadke, Rahul; Ravenscroft, Gianina; Witting, Nanna; Hackman, Peter; Richard, Isabelle; Cooper, Sandra T.; Kamsteeg, Erik-Jan; Hoffman, Eric P.; Bushby, Kate; Straub, Volker; Udd, Bjarne; Ferreiro, Ana; North, Kathryn N.; Clarke, Nigel F.; Lek, Monkol; Beggs, Alan H.; Boennemann, Carsten G.; MacArthur, Daniel G.; Granzier, Henk; Davis, Mark R.; Laing, Nigel G.
Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability

与发育障碍和智力障碍相关的DLG2中的新型启动子和编码第一外显子

GENOME MEDICINE
IF11.2
2017-07-1931
OAAI
Reggiani, Claudio; Coppens, Sandra; Sekhara, Tayeb; Dimov, Ivan; Pichon, Bruno; Lufin, Nicolas; Addor, Marie-Claude; Belligni, Elga Fabia; Digilio, Maria Cristina; Faletra, Flavio; Ferrero, Giovanni Battista; Gerard, Marion; Isidor, Bertrand; Joss, Shelagh; Niel-Butschi, Florence; Perrone, Maria Dolores; Petit, Florence; Renieri, Alessandra; Romana, Serge; Topa, Alexandra; Vermeesch, Joris Robert; Lenaerts, Tom; Casimir, Georges; Abramowicz, Marc; Bontempi, Gianluca; Vilain, Catheline; Deconinck, Nicolas; Smits, Guillaume

研究方向

暂未获取到该数据
K
Kevin K. Ariën
H 指数:40论文数:249被引数:5,346
K
Katleen Vereecken
H 指数:18论文数:56被引数:974
K
Koen Bartholomeeusen
H 指数:24论文数:55被引数:3,037
N
Nicolas Deconinck
H 指数:43论文数:262被引数:7,789
L
Leo Heyndrickx
H 指数:20论文数:82被引数:1,346
W
Wouter Janssens
H 指数:32论文数:120被引数:3,027
V
Volker Straub
H 指数:101论文数:962被引数:3.4万
N
Nigel G. Laing
H 指数:80论文数:1,233被引数:2.8万
A
Ana Töpf
H 指数:39论文数:256被引数:6,055
P
Payam Mohassel
H 指数:27论文数:105被引数:2,586