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M
Marie Vincent
Institut du ThoraxH指数:38
被引数:4,506
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教育背景
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工作经历
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- 发表时间最新
- IF最高
- 被引数最高
早衰综合征将DNA高甲基化与年龄相关的病理学联系起来
Nature Genetics
IF29
2026-06-120
OAAI
Dan Sarni; Gráinne Neary; Paula L. Carroll; Chris S. Vink; Caroline V. Billard; Tomoya Isobe; Xiong Weng; Jordan R. Portman; Daniel L. McCartney; Patricia Heyn; Rob J. van ‘t Hof; Linda R. Morrison; Carol-Anne Martin; Colin Stok; Margaret E. Harley; Andrea Leitch; Maarten van den Ancker; Nic Robertson; Laura Kitto; Richard Clark; Michael Rennie; Anna Popravko; Jessica J. McClure; David A. Parry; Giuseppina Camiolo; Tom Leah; Hélène Jakobczyk; Roly Megaw; Lisa McKie; Grant F. Marshall; Nika Balkic; Jeanne Amiel; Tania Barragán Arévalo; Grace Bronken McCarthy; Catherine A. Buchanan; Alexandre Buffet; Alberto Cascón; Benjamin Cogne; Solene Conrad; Anna Maria Cueto-González; Maria Currás-Freixes; Gunnar Douzgos Houge; Chin-To Fong; Jaya K. George-Abraham; Kate Gibson; Lourdes Ibáñez; Nicola Longo; Charlotte Lussey-Lepoutre; Bradley S. Miller; Alejandro Moles-Fernandez; Nishitha R. Pillai; Tatiana Tvrdik; Marie Vincent; Emiy Yokoyama; Catherine M. Abbott; Francisco Jose Sanchez-Luque; Katrin Ottersbach; Cosimo De Bari; Anke J. Roelofs; Rebekah Tillotson; Kamil R. Kranc; Sara J. Brown; Riccardo E. Marioni; Mihaela Crisan; Berthold Göttgens; Neil C. Henderson; Robert K. Semple; Kevin B. Myant; Elaine Dzierzak; Martin A. M. Reijns; Duncan Sproul; Andrew P. Jackson
全国范围内排除性无创产前诊断在单基因病中的应用：法国公共网络九年的活动与性能分析
2026-05-011
OAAI
Labarthe, Adrien; Doppler, Solene; Audrezet, Marie-Pierre; Bienvenu, Thierry; Couque, Nathalie; Defer, Ines; Gravrand, Victor; Leturcq, France; Mansard, Luke; Masson, Emmanuelle; Boimard, Lucie Orhant; Vaucouleur, Nicolas; Vincent, Marie-Claire; Verebi, Camille; Nectoux, Juliette
9q34.11微重复包含SET基因，与神经发育障碍和复发性畸形相关。
2025-11-010
PRE
De Falco, Alessandro; Vincent, Marie; Vieville, Gaelle; Gauthier, Marjolaine; Dieterich, Klaus; Coutton, Charles; Loddo, Sara; Novelli, Antonio; Dallapiccola, Bruno; Digilio, Maria Cristina; Briuglia, Silvana; Bernardini, Laura; Fontana, Paolo; Madej-pilarczyk, Agnieszka; Mlynek, Marlena; De Falco, Luigia; Acquaviva, Fabio; De Brasi, Daniele; Faivre, Laurence; Dauver, Lucie; Alnuaimi, Nouf; Callier, Patrick; Trevisan, Valentina; Onesimo, Roberta; Leoni, Chiara; Zampino, Giuseppe; Neri, Giovanni; Delplancq, Geoffroy; Perrin, Laurence; White, Susan M.; Guerrini, Renzo; Mei, Davide; Sani, Ilaria; Pantaleo, Marilena; Peron, Angela; Brunetti-pierri, Nicola
一项大型队列研究重新定义了产前外显子测序在胎儿胼胝体畸形诊断中的应用。
BRAIN
IF11.7
2025-11-010
PRE
Heron, Delphine; Gerasimenko, Anna; Frugere, Lisa; Ducourneau, Jade; Rossi, Capucine; Nava, Caroline; De Sainte-Agathe, Jean-Madeleine; Mignot, Cyril; Lehalle, Daphne; Grotto, Sarah; El-Khattabi, Laila; Nguyen, Toan; Garel, Catherine; Blondiaux, Eleonore; Milh, Mathieu; Desnous, Beatrice; Girard, Nadine; des Portes, Vincent; Guibaud, Laurent; Sabatier, Isabelle; Patat, Olivier; Julia, Sophie; Benachi, Alexandra; Vivanti, Alexandre; Picone, Olivier; Guet, Agnes; Nizon, Mathilde; Vincent, Marie; Conrad, Solene; Le Vaillant, Claudine; Billette De Villemeur, Thierry; Moutton, Sebastien; Tsatsaris, Vassilis; Guilbaud, Lucie; Jouannic, Jean-Marie; Valence, Stephanie; Keren, Boris; Heide, Solveig
遗传修饰因子和病例发现方式驱动复杂疾病的表型可变性
Cell
IF42.5
2025-10-070
OAAI
Matthew Jensen; Corrine Smolen; Anastasia Tyryshkina; Lucilla Pizzo; Jiawan Sun; Serena Noss; Deepro Banerjee; Matthew Oetjens; Hermela Shimelis; Cora M. Taylor; Vijay Kumar Pounraja; Hyebin Song; Laura Rohan; Emily Huber; Laila El Khattabi; Ingrid van de Laar; Rafik Tadros; Connie R. Bezzina; Marjon van Slegtenhorst; Janneke Kammeraad; Paolo Prontera; Jean-Hubert Caberg; Harry Fraser; Siddharth Banka; Anke Van Dijck; Charles Schwartz; Els Voorhoeve; Patrick Callier; Anne-Laure Mosca-Boidron; Nathalie Marle; Mathilde Lefebvre; Kate Pope; Penny Snell; Amber Boys; Paul J. Lockhart; Myla Ashfaq; Elizabeth McCready; Margaret Nowacyzk; Lucia Castiglia; Ornella Galesi; Emanuela Avola; Teresa Mattina; Marco Fichera; Maria Grazia Bruccheri; Giuseppa Maria Luana Mandarà; Francesca Mari; Flavia Privitera; Ilaria Longo; Aurora Curró; Alessandra Renieri; Boris Keren; Perrine Charles; Silvestre Cuinat; Mathilde Nizon; Olivier Pichon; Claire Bénéteau; Radka Stoeva; Dominique Martin-Coignard; Sophia Blesson; Cedric Le Caignec; Sandra Mercier; Marie Vincent; Christa L. Martin; Katrin Mannik; Alexandre Reymond; Laurence Faivre; Erik Sistermans; R. Frank Kooy; David J. Amor; Corrado Romano; Joris Andrieux; Santhosh Girirajan
法国产前诊断中外显子测序的应用：产前诊断中心专业人员的探索性定性研究：Prenatome-SHS
Prenatal Diagnosis
IF2.7
2025-07-220
OA
Charlène Daval; Nicolas Meunier-Beillard; Eléonore Viora-Dupont; Julian Delanne; Aurore Garde; Caroline Racine; Frédéric Tran Mau-Them; Anne-Sophie Denommé-Pichon; Christophe Philippe; Ange-Line Bruel; Hana Safraou; Sylvie Odent; Chloé Quélin; Marine Legendre; Sophie Naudion; Médéric Jeanne; Marie-Line Jacquemont; Agnès Guichet; Camille Saldana; Anne-Marie Guerrot; Alice Goldenberg; Caroline Guégan; Marie Vincent; Audrey Putoux; Christine Francannet; Constance Wells; Chloé Arthuis; Elodie Alexandre; Thierry Rousseau; Olivia Martz; Emilie Simon; Ornella Magnien; Fanny Bobert; Sophie Bert; Frédéric Coatleven; Fanny Reveyaz; Perrine Moulinié; Christine Binquet; Christel Thauvin-Robinet; Laurence Faivre
2025-04-010
OA
Thauvin-Robinet, Christel; Garde, Aurore; Favier, Maud; Delanne, Julian; Racine, Caroline; Rousseau, Thierry; Nambot, Sophie; Bruel, Ange-Line; Moutton, Sebastien; Quelin, Chloe; Colson, Cindy; Brehin, Anne-Claire; Guerrot, Anne-Marie; Rooryck, Caroline; Putoux, Audrey; Blanchet, Patricia; Odent, Sylvie; Schaefer, Elise; Boute, Odile; Goldenberg, Alice; Guichet, Agnes; Abel, Carine; Morel, Godelieve; Fradin, Melanie; Isidor, Bertrand; Vincent, Marie; Francannet, Christine; Vera, Gabriella; Petit, Florence; Nizon, Mathilde; Wells, Constance; Jeanne, Mederic; Deiller, Caroline; Ziegler, Alban; Godin, Manon; Saugier-Veber, Pascale; Cassinari, Kevin; Blanc, Pierre; Simon, Emmanuel; Binquet, Christine; Duffourd, Yannis; Safraou, Hana; Denomme-Pichon, Anne-Sophie; Vitobello, Antonio; Philippe, Christophe; Faivre, Laurence; Tran-Mau-Them, Frederic; Bourgon, Nicolas
2025-03-010
OA
Houdayer, Clara; Rooney, Kathleen; van der Laan, Liselot; Bris, Celine; Alders, Marielle; Bahr, Angela; Barcia, Giulia; Battault, Clarisse; Begemann, Anais; Bonneau, Dominique; Bonnevalle, Antoine; Boughalem, Aicha; Bourges, Alice; Bournez, Marie; Bruel, Ange-Line; Buhas, Daniela; Carallis, Floriane; Cogne, Benjamin; Cormier-Daire, Valerie; Delanne, Julian; Demaret, Tanguy; Denomme-Pichon, Anne-Sophie; Desir, Julie; Dubourg, Christele; Fradin, Melanie; Genevieve, David; Goel, Himanshu; Goldenberg, Alice; Gripp, Karen W.; Guichet, Agnes; Guimier, Anne; Jacquinet, Adeline; Keren, Boris; Legoff, Louis; Levy, Michael A.; Mcconkey, Haley; Mendelsohn, Bryce A.; Mignot, Cyril; Milon, Vincent; Nizon, Mathilde; Oneda, Beatrice; Pasquier, Laurent; Patat, Olivier; Philippe, Christophe; Procaccio, Vincent; Procopio, Rebecca; Prouteau, Clement; Rambaud, Thomas; Rauch, Anita; Relator, Raissa; Rondeau, Sophie; Santen, Gijs W. E.; Schleit, Jennifer; Sorlin, Arthur; Steindl, Katharina; Tedder, Matt; Tessarech, Marine; Mau-Them, Frederic Tran; Trost, Detlef; van der Sluijs, Pleuntje J.; Vincent, Marie; Whalen, Sandra; Thauvin-Robinet, Christel; Isidor, Bertrand; Sadikovic, Bekim; Vitobello, Antonio; Colin, Estelle
CUL3中的功能丧失变体导致综合征性神经发育障碍
ANNALS OF NEUROLOGY
IF7.7
2024-09-202
PRE
Blackburn, Patrick R.; Ebstein, Frederic; Hsieh, Tzung-Chien; Motta, Marialetizia; Radio, Francesca Clementina; Herkert, Johanna C.; Rinne, Tuula; Thiffault, Isabelle; Rapp, Michele; Alders, Mariel; Maas, Saskia; Gerard, Benedicte; Smol, Thomas; Vincent-Delorme, Catherine; Cogne, Benjamin; Isidor, Bertrand; Vincent, Marie; Bachmann-Gagescu, Ruxandra; Rauch, Anita; Joset, Pascal; Ferrero, Giovanni Battista; Ciolfi, Andrea; Husson, Thomas; Guerrot, Anne-Marie; Bacino, Carlos; Macmurdo, Colleen; Thompson, Stephanie S.; Rosenfeld, Jill A.; Faivre, Laurence; Mau-Them, Frederic Tran; Deb, Wallid; Vignard, Virginie; Agrawal, Pankaj B.; Madden, Jill A.; Goldenberg, Alice; Lecoquierre, Francois; Zech, Michael; Prokisch, Holger; Necpal, Jan; Jech, Robert; Winkelmann, Juliane; Koprusakova, Monika Turcanova; Konstantopoulou, Vassiliki; Younce, John R.; Shinawi, Marwan; Mighton, Chloe; Fung, Charlotte; Morel, Chantal F.; Lerner-Ellis, Jordan; Ditroia, Stephanie; Barth, Magalie; Bonneau, Dominique; Krapels, Ingrid; Stegmann, Alexander P. A.; van Der Schoot, Vyne; Brunet, Theresa; Bussmann, Cornelia; Mignot, Cyril; Zampino, Giuseppe; Wortmann, Saskia B.; Mayr, Johannes A.; Feichtinger, Rene G.; Courtin, Thomas; Ravelli, Claudia; Keren, Boris; Ziegler, Alban; Hasadsri, Linda; Pichurin, Pavel N.; Klee, Eric W.; Grand, Katheryn; Sanchez-Lara, Pedro A.; Krueger, Elke; Bezieau, Stephane; Klinkhammer, Hannah; Krawitz, Peter Michael; Eichler, Evan E.; Tartaglia, Marco; Kuery, Sebastien; Wang, Tianyun
KMT2C的致病变异导致与Kleefstra和Kabuki综合征不同的神经发育障碍
2024-08-014
PRE
Rots, Dmitrijs; Choufani, Sanaa; Faundes, Victor; Dingemans, Alexander J. M.; Joss, Shelagh; Foulds, Nicola; Jones, Elizabeth A.; Stewart, Sarah; Vasudevan, Pradeep; Dabir, Tabib; Park, Soo-Mi; Jewell, Rosalyn; Brown, Natasha; Pais, Lynn; Jacquemont, Sebastien; Jizi, Khadije; van Ravenswaaij-Arts, Conny M. A.; Kroes, Hester Y.; Stumpel, Constance T. R. M.; Ockeloen, Charlotte W.; Diets, Illja J.; Nizon, Mathilde; Vincent, Marie; Cogne, Benjamin; Besnard, Thomas; Kambouris, Marios; Anderson, Emily; Zackai, Elaine H.; McDougall, Carey; Donoghue, Sarah; O'Donnell-Luria, Anne; Valivullah, Zaheer; O'Leary, Melanie; Srivastava, Siddharth; Byers, Heather; Leslie, Nancy; Mazzola, Sarah; Tiller, George E.; Vera, Moin; Shen, Joseph J.; Boles, Richard; Jain, Vani; Brischoux-Boucher, Elise; Kinning, Esther; Simpson, Brittany N.; Giltay, Jacques C.; Harris, Jacqueline; Keren, Boris; Guimier, Anne; Marijon, Pierre; de Vries, Bert B. A.; Motter, Constance S.; Mendelsohn, Bryce A.; Coffino, Samantha; Gerkes, Erica H.; Afenjar, Alexandra; Visconti, Paola; Bacchelli, Elena; Maestrini, Elena; Delahaye-Duriez, Andree; Gooch, Catherine; Hendriks, Yvonne; Adams, Hieab; Thauvin-Robinet, Christel; Josephi-Taylor, Sarah; Bertoli, Marta; Parker, Michael J.; Rutten, Julie W.; Caluseriu, Oana; Vernon, Hilary J.; Kaziyev, Jonah; Zhu, Jia; Kremen, Jessica; Frazier, Zoe; Osika, Hailey; Breault, David; Nair, Sreelata; Lewis, Suzanne M. E.; Ceroni, Fabiola; Viggiano, Marta; Posar, Annio; Brittain, Helen; Giovanna, Traficante; Giulia, Gori; Quteineh, Lina; Leuchter, Russia Ha-Vinh; Zonneveld-Huijssoon, Evelien; Mellado, Cecilia; Marey, Isabelle; Coudert, Alicia; Alvarez, Mariana Ines Aracena; Kennis, Milou G. P.; Bouman, Arianne; Roifman, Maian; Rodriguez, Maria Inmaculada Amoros; Ortigoza-Escobar, Juan Dario; Vernimmen, Vivian; Sinnema, Margje; Pfundt, Rolph; Brunner, Han G.; Vissers, Lisenka E. L. M.; Kleefstra, Tjitske; Weksberg, Rosanna; Banka, Siddharth
2024-06-011
PRE
Lanvin, Pierre-Louis; Li, Dong; Conrad, Solene; Magot, Armelle; Micaelli, Xavier; Pereon, Yann; Vincent, Marie; Isidor, Bertrand; Sternberg, Damien; McCormick, Elizabeth M.; Hakonarson, Hakon; Mercier, Sandra; Falk, Marni J.
剪接体功能异常导致具有重叠特征的神经发育障碍
2024-01-026
OAAI
Li, Dong; Wang, Qin; Bayat, Allan; Battig, Mark R.; Zhou, Yijing; Bosch, Danielle G. M.; van Haaften, Gijs; Granger, Leslie; Petersen, Andrea K.; Perez-Jurado, Luis A.; Aznar-Lain, Gemma; Aneja, Anushree; Hancarova, Miroslava; Bendova, Sarka; Schwarz, Martin; Pourova, Radka Kremlikova; Sedlacek, Zdenek; Keena, Beth A.; March, Michael E.; Hou, Cuiping; O'Connor, Nora; Bhoj, Elizabeth J.; Harr, Margaret H.; Lemire, Gabrielle; Boycott, Kym M.; Towne, Meghan; Li, Megan; Tarnopolsky, Mark; Brady, Lauren; Parker, Michael J.; Faghfoury, Hanna; Parsley, Lea Kristin; Agolini, Emanuele; Dentici, Maria Lisa; Novelli, Antonio; Wright, Meredith; Palmquist, Rachel; Lai, Khanh; Scala, Marcello; Striano, Pasquale; Iacomino, Michele; Zara, Federico; Cooper, Annina; Maarup, Timothy J.; Byler, Melissa; Lebel, Robert Roger; Balci, Tugce B.; Louie, Raymond; Lyons, Michael; Douglas, Jessica; Nowak, Catherine; Afenjar, Alexandra; Hoyer, Juliane; Keren, Boris; Maas, Saskia M.; Motazacker, Mahdi M.; Martinez-Agosto, Julian A.; Rabani, Ahna M.; McCormick, Elizabeth M.; Falk, Marni J.; Ruggiero, Sarah M.; Helbig, Ingo; Moller, Rikke S.; Tessarollo, Lino; Ardori, Francesco Tomassoni; Palko, Mary Ellen; Hsieh, Tzung-Chien; Krawitz, Peter M.; Ganapathi, Mythily; Gelb, Bruce D.; Jobanputra, Vaidehi; Wilson, Ashley; Greally, John; Jacquemont, Sebastien; Jizi, Khadije; Bruel, Ange-Line; Quelin, Chloe; Misra, Vinod K.; Chick, Erika; Romano, Corrado; Greco, Donatella; Arena, Alessia; Morleo, Manuela; Nigro, Vincenzo; Seyama, Rie; Uchiyama, Yuri; Matsumoto, Naomichi; Taira, Ryoji; Tashiro, Katsuya; Sakai, Yasunari; Yigit, Gokhan; Wollnik, Bernd; Wagner, Michael; Kutsche, Barbara; Hurst, Anna C. E.; Thompson, Michelle L.; Schmidt, Ryan; Randolph, Linda; Spillmann, Rebecca C.; Shashi, Vandana; Higginbotham, Edward J.; Cordeiro, Dawn; Carnevale, Amanda; Costain, Gregory; Khan, Tayyaba; Funalot, Benoit; Mau-Them, Frederic Tran; Moya, Luis Fernandez Garcia; Garcia-Minaur, Sixto; Osmond, Matthew; Chad, Lauren; Quercia, Nada; Carrasco, Diana; Li, Chumei; Sanchez-Valle, Amarilis; Kelley, Meghan; Nizon, Mathilde; Jensson, Brynjar O.; Sulem, Patrick; Stefansson, Kari; Gorokhova, Svetlana; Busa, Tiffany; Rio, Marlene; Habdallah, Hamza Hadj; Lesieur-Sebellin, Marion; Amiel, Jeanne; Pingault, Veronique; Mercier, Sandra; Vincent, Marie; Philippe, Christophe; Fatus-Fauconnier, Clemence; Friend, Kathryn; Halligan, Rebecca K.; Biswas, Sunita; Rosser, Jane; Shoubridge, Cheryl; Corbett, Mark; Barnett, Christopher; Gecz, Jozef; Leppig, Kathleen; Slavotinek, Anne; Marcelis, Carlo; Pfundt, Rolph; de Vries, Bert B. A.; van Slegtenhorst, Marjon A.; Brooks, Alice S.; Cogne, Benjamin; Rambaud, Thomas; Tumer, Zeynep; Zackai, Elaine H.; Akizu, Naiara; Song, Yuanquan; Hakonarson, Hakon
2023-12-080
OA
Morison, Lottie D.; van Reyk, Olivia; Forbes, Elana; Rouxel, Flavien; Faivre, Laurence; Bruinsma, Fiona; Vincent, Marie; Jacquemont, Marie-Line; Dykzeul, Natalie L.; Genevieve, David; Amor, David J.; Morgan, Angela T.
2023-10-2311
OAAI
Husson, Thomas; Lecoquierre, Francois; Nicolas, Gael; Richard, Anne-Claire; Afenjar, Alexandra; Audebert-Bellanger, Severine; Badens, Catherine; Bilan, Frederic; Bizaoui, Varoona; Boland, Anne; Bonnet-Dupeyron, Marie-Noelle; Brischoux-Boucher, Elise; Bonnet, Celine; Bournez, Marie; Boute, Odile; Brunelle, Perrine; Caumes, Roseline; Charles, Perrine; Chassaing, Nicolas; Chatron, Nicolas; Cogne, Benjamin; Colin, Estelle; Cormier-Daire, Valerie; Dard, Rodolphe; Dauriat, Benjamin; Delanne, Julian; Deleuze, Jean-Francois; Demurger, Florence; Denomme-Pichon, Anne-Sophie; Depienne, Christel; Dieux, Anne; Dubourg, Christele; Edery, Patrick; El Chehadeh, Salima; Faivre, Laurence; Fergelot, Patricia; Fradin, Melanie; Garde, Aurore; Genevieve, David; Gilbert-Dussardier, Brigitte; Goizet, Cyril; Goldenberg, Alice; Gouy, Evan; Guerrot, Anne-Marie; Guimier, Anne; Harzalla, Ines; Heron, Delphine; Isidor, Bertrand; Lacombe, Didier; Horn, Xavier Le Guillou; Keren, Boris; Kuechler, Alma; Lacaze, Elodie; Lavillaureix, Alinoe; Lehalle, Daphne; Lesca, Gaetan; Lespinasse, James; Levy, Jonathan; Lyonnet, Stanislas; Morel, Godelieve; Jean-Marcais, Nolwenn; Marlin, Sandrine; Marsili, Luisa; Mignot, Cyril; Nambot, Sophie; Nizon, Mathilde; Olaso, Robert; Pasquier, Laurent; Perrin, Laurine; Petit, Florence; Pingault, Veronique; Piton, Amelie; Prieur, Fabienne; Putoux, Audrey; Planes, Marc; Odent, Sylvie; Quelin, Chloe; Quemener-Redon, Sylvia; Rama, Melanie; Rio, Marlene; Rossi, Massimiliano; Schaefer, Elise; Rondeau, Sophie; Saugier-Veber, Pascale; Smol, Thomas; Sigaudy, Sabine; Touraine, Renaud; Mau-Them, Frederic Tran; Trimouille, Aurelien; Van Gils, Julien; Vanlerberghe, Clemence; Vantalon, Valerie; Vera, Gabriella; Vincent, Marie; Ziegler, Alban; Guillin, Olivier; Campion, Dominique; Charbonnier, Camille
PTPN11嵌合体引起一系列色素和血管神经皮肤疾病，并易患黑色素瘤
2023-06-016
OAAI
Polubothu, Satyamaanasa; Bender, Nicole; Muthiah, Siobhan; Zecchin, Davide; Demetriou, Charalambos; Martin, Sara Barberan; Malhotra, Sony; Travnickova, Jana; Zeng, Zhiqiang; Boehm, Markus; Barbarot, Sebastien; Cottrell, Catherine; Davies, Olivia; Baselga, Eulalia; Burrows, Nigel P.; Carmignac, Virginie; Diaz, Joey Santiago; Fink, Christine; Haenssle, Holger A.; Happle, Rudolf; Harland, Mark; Majerowski, Jacquelyn; Vabres, Pierre; Vincent, Marie; Newton-Bishop, Julia A.; Bishop, D. Tim; Siegel, Dawn; Patton, E. Elizabeth; Topf, Maya; Rajan, Neil; Drolet, Beth; Kinsler, Veronica A.
2023-04-014
OAAI
Frost, F. Graeme; Morimoto, Marie; Sharma, Prashant; Ruaud, Lyse; Belnap, Newell; Calame, Daniel G.; Uchiyama, Yuri; Matsumoto, Naomichi; Oud, Machteld M.; Ferreira, Elise A.; Narayanan, Vinodh; Rangasamy, Sampath; Huentelman, Matt; Emrick, Lisa T.; Sato-Shirai, Ikuko; Kumada, Satoko; Wolf, Nicole I.; Steinbach, Peter J.; Huang, Yan; Pusey, Barbara N.; Passemard, Sandrine; Levy, Jonathan; Drunat, Severine; Vincent, Marie; Guet, Agnes; Agolini, Emanuele; Novelli, Antonio; Digilio, Maria Cristina; Rosenfeld, Jill A.; Murphy, Jennifer L.; Lupski, James R.; Vezina, Gilbert; Macnamara, Ellen F.; Adams, David R.; Acosta, Maria T.; Tifft, Cynthia J.; Gahl, William A.; Malicdan, May Christine V.
2023-01-048
OA
Morison, Lottie D. D.; Van Reyk, Olivia; Forbes, Elana; Rouxel, Flavien; Faivre, Laurence; Bruinsma, Fiona; Vincent, Marie; Jacquemont, Marie-Line; Dykzeul, Natalie L. L.; Genevieve, David; Amor, David J. J.; Morgan, Angela T. T.
WNK3中罕见的致病变异导致X连锁智力障碍
GENETICS IN MEDICINE
IF6.2
2022-09-015
OAAI
Kury, Sebastien; Zhang, Jinwei; Besnard, Thomas; Caro-Llopis, Alfonso; Zeng, Xue; Robert, Stephanie M.; Josiah, Sunday S.; Kiziltug, Emre; Denomme-Pichon, Anne-Sophie; Cogne, Benjamin; Kundishora, Adam J.; Hao, Le T.; Li, Hong; Stevenson, Roger E.; Louie, Raymond J.; Deb, Wallid; Torti, Erin; Vignard, Virginie; McWalter, Kirsty; Raymond, F. Lucy; Rajabi, Farrah; Ranza, Emmanuelle; Grozeva, Detelina; Coury, Stephanie A.; Blanc, Xavier; Brischoux-Boucher, Elise; Keren, Boris; Ounap, Katrin; Reinson, Karit; Ilves, Pilvi; Wentzensen, Ingrid M.; Barr, Eileen E.; Guihard, Solveig Heide; Charles, Perrine; Seaby, Eleanor G.; Monaghan, Kristin G.; Rio, Marlene; van Bever, Yolande; van Slegtenhorst, Marjon; Chung, Wendy K.; Wilson, Ashley; Quinquis, Delphine; Breheret, Flora; Retterer, Kyle; Lindenbaum, Pierre; Scalais, Emmanuel; Rhodes, Lindsay; Stouffs, Katrien; Pereira, Elaine M.; Berger, Sara M.; Milla, Sarah S.; Jaykumar, Ankita B.; Cobb, Melanie H.; Panchagnula, Shreyas; Duy, Phan Q.; Vincent, Marie; Mercier, Sandra; Gilbert-Dussardier, Brigitte; Le Guillou, Xavier; Audebert-Bellanger, Severine; Odent, Sylvie; Schmitt, Sebastien; Boisseau, Pierre; Bonneau, Dominique; Toutain, Annick; Colin, Estelle; Pasquier, Laurent; Redon, Richard; Bouman, Arjan; Rosenfeld, Jill A.; Friez, Michael J.; Perez-Pena, Helena; Rizvi, Syed Raza Akhtar; Haider, Shozeb; Antonarakis, Stylianos E.; Schwartz, Charles E.; Martinez, Francisco; Bezieau, Stephane; Kahle, Kristopher T.; Isidor, Bertrand
遗传性神经发育障碍全基因组DNA甲基化谱的功能相关性
HUMAN MUTATION
IF3.7
2022-08-2146
OA
Levy, Michael A.; Relator, Raissa; McConkey, Haley; Pranckeviciene, Erinija; Kerkhof, Jennifer; Barat-Houari, Mouna; Bargiacchi, Sara; Biamino, Elisa; Bralo, Maria Palomares; Cappuccio, Gerarda; Ciolfi, Andrea; Clarke, Angus; DuPont, Barbara R.; Elting, Mariet W.; Faivre, Laurence; Fee, Timothy; Ferilli, Marco; Fletcher, Robin S.; Cherick, Florian; Foroutan, Aidin; Friez, Michael J.; Gervasini, Cristina; Haghshenas, Sadegheh; Hilton, Benjamin A.; Jenkins, Zandra; Kaur, Simranpreet; Lewis, Suzanne; Louie, Raymond J.; Maitz, Silvia; Milani, Donatella; Morgan, Angela T.; Oegema, Renske; Ostergaard, Elsebet; Pallares, Nathalie R.; Piccione, Maria; Plomp, Astrid S.; Poulton, Cathryn; Reilly, Jack; Rius, Rocio; Robertson, Stephen; Rooney, Kathleen; Rousseau, Justine; Santen, Gijs W. E.; Santos-Simarro, Fernando; Schijns, Josephine; Squeo, Gabriella M.; St John, Miya; Thauvin-Robinet, Christel; Traficante, Giovanna; van der Sluijs, Pleuntje J.; Vergano, Samantha A.; Vos, Niels; Walden, Kellie K.; Azmanov, Dimitar; Balci, Tugce B.; Banka, Siddharth; Gecz, Jozef; Henneman, Peter; Lee, Jennifer A.; Mannens, Marcel M. A. M.; Roscioli, Tony; Siu, Victoria; Amor, David J.; Baynam, Gareth; Bend, Eric G.; Boycott, Kym; Brunetti-Pierri, Nicola; Campeau, Philippe M.; Campion, Dominique; Christodoulou, John; Dyment, David; Esber, Natacha; Fahrner, Jill A.; Fleming, Mark D.; Genevieve, David; Heron, Delphine; Husson, Thomas; Kernohan, Kristin D.; McNeill, Alisdair; Menke, Leonie A.; Merla, Giuseppe; Prontera, Paolo; Rockman-Greenberg, Cheryl; Schwartz, Charles; Skinner, Steven A.; Stevenson, Roger E.; Vincent, Marie; Vitobello, Antonio; Tartaglia, Marco; Alders, Marielle; Tedder, Matthew L.; Sadikovic, Bekim
NATURE GENETICS
IF31.8
2022-07-219
OA
Traspas, Ricardo Moreno; Teoh, Tze Shin; Wong, Pui-Mun; Maier, Michael; Chia, Crystal Y.; Lay, Kenneth; Ali, Nur Ain; Larson, Austin; Al Mutairi, Fuad; Al-Sannaa, Nouriya Abbas; Faqeih, Eissa Ali; Alfadhel, Majid; Cheema, Huma Arshad; Dupont, Juliette; Bezieau, Stephane; Isidor, Bertrand; Low, Dorrain Yanwen; Wang, Yulan; Tan, Grace; San Lai, Poh; Piloquet, Hugues; Joubert, Madeleine; Kayserili, Hulya; Kripps, Kimberly A.; Nahas, Shareef A.; Wartchow, Eric P.; Warren, Mikako; Bhavani, Gandham SriLakshmi; Dasouki, Majed; Sandoval, Renata; Carvalho, Elisa; Ramos, Luiza; Porta, Gilda; Bin Wu; Lashkari, Harsha Prasada; AlSaleem, Badr; BaAbbad, Raeda M.; Abreu Ferrao, Anabela Natalia; Karageorgou, Vasiliki; Ordonez-Herrera, Natalia; Khan, Suliman; Bauer, Peter; Cogne, Benjamin; Bertoli-Avella, Aida M.; Vincent, Marie; Girisha, Katta Mohan; Reversade, Bruno
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