日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.

SMARCA1 中的致病变异会导致 X 连锁神经发育障碍,该障碍受 NURF 复合物组成调节。

Mirzaa Ghayda M, Yan Keqin, Relator Raissa, Levesque Mathieu, Jayasinghe Pranisha, Timpano Sara, Yalcin Binnaz, Collins Stephan, Ziegler Alban, Pao Emily, Oyama Nora, Brischoux-Boucher Elise, Piard Juliette, Monaghan Kristin G, Guillen Sacoto Maria J, Dobyns William B, Park Kristen L, Fernández-Mayoralas Daniel Martin, Fernández-Jaén Alberto, Jayakar Parul, Palomares-Bralo María, Santos-Simarro Fernando, Brusco Alfredo, Antona Vincenzo, Giorgio Elisa, Kvarnung Malin, Isidor Bertrand, Conrad Solène, Cogné Benjamin, Deb Wallid, Stuurman Kyra E, Štěrbová Katalin, Smal Noor, Weckhuysen Sarah, Oegema Renske, Innes A Micheil, Koboldt Daniel C, Ben-Omran Tawfeg, Yeh Rebecca C, Kruer Michael C, Bakhtiari Somayeh, Papavasiliou Antigone, Moutton Sébastien, Nambot Sophie, Chanprasert Sirisak, Paolucci Sarah A, Miller Kait, Burton Barbara, Kim Katherine, O'Heir Emily, Bruwer Zandre, Donald Kirsten A, Kleefstra Tjitske, Goldstein Amy, Angle Brad, Bontempo Kelly, Miny Peter, Joset Pascal, Demurger Florence, Hobson Emma, Pang Lewis, Carpenter Lori, Li Dong, Bonneau Dominique, Sadikovic Bekim, Picketts David J

Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features

对未解决的产前外显子组测序结构缺陷进行重新分析:诊断率和产后/尸检特征的贡献

Thauvin-Robinet, Christel; Garde, Aurore; Favier, Maud; Delanne, Julian; Racine, Caroline; Rousseau, Thierry; Nambot, Sophie; Bruel, Ange-Line; Moutton, Sébastien; Quelin, Chloé; 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, Frédéric; Bourgon, Nicolas

RICTOR variants are associated with neurodevelopmental disorders

RICTOR基因变异与神经发育障碍相关

Carapito, Raphael; Molitor, Anne; Pavinato, Lisa; Skeyni, Alaa; Lambert, Magalie; Pichot, Angélique; Jiang, Jiuhong; Spinnhirny, Perrine; Zimmermann, Lucie; Boucher, Philippe; Chung, Clara W T; Elserafy, Noha; Blair, Edward M; Li, Dong; Elisabeth, Bhoj; Kotzaeridou, Urania; Karch, Stephanie; Wagner, Matias; Lunsing, Roelineke J; Pfundt, Rolph; Boycott, Kym M; Bruel, Ange-Line; Mau-Them, Frédéric Tran; Moutton, Sébastien; Conti, Valerio; Mei, Davide; Cetica, Valentina; Guerrini, Renzo; Brunet, Theresa; Rump, Patrick; Mussa, Alessandro; Brusco, Alfredo; Lemire, Gabrielle; de Vries, Bert B A; Miao, Zhichao; Isidor, Bertrand; Bahram, Seiamak

Further phenotypical delineation of DLG3-related neurodevelopmental disorders

DLG3相关神经发育障碍的进一步表型描述

Malbos, Marlène; Gautier, Thierry; Shillington, Amelle; Colin, Estelle; Le Guillou, Xavier; Caluseriu, Oana; Isidor, Bertrand; Cogné, Benjamin; Mignot, Cyril; Keren, Boris; Weber, Sacha; Jacquin, Clémence; Dudding, Tracy; Calame, Daniel; Piard, Juliette; Levy, Jonathan; Latypova, Xenia; Verloes, Alain; Niclass, Tanguy; Jacquette, Aurélia; White, Lori; Moizard, Marie-Pierre; Dollfus, Hélène; Moutton, Sébastien; Delanne, Julian; Racine, Caroline; Thomas, Quentin; Denommé-Pichon, Anne-Sophie; Tran Mau-Them, Frédéric; Bruel, Ange-Line; Safraou, Hana; Philippe, Christophe; Duffourd, Yannis; Thauvin-Robinet, Christel; Govin, Jérôme; Vitobello, Antonio; Faivre, Laurence

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

由PPFIA3基因罕见变异引起的综合征性神经发育障碍

Paul, Maimuna S; Michener, Sydney L; Pan, Hongling; Chan, Hiuling; Pfliger, Jessica M; Rosenfeld, Jill A; Lerma, Vanesa C; Tran, Alyssa; Longley, Megan A; Lewis, Richard A; Weisz-Hubshman, Monika; Bekheirnia, Mir Reza; Bekheirnia, Nasim; Massingham, Lauren; Zech, Michael; Wagner, Matias; Engels, Hartmut; Cremer, Kirsten; Mangold, Elisabeth; Peters, Sophia; Trautmann, Jessica; Mester, Jessica L; Guillen Sacoto, Maria J; Person, Richard; McDonnell, Pamela P; Cohen, Stacey R; Lusk, Laina; Cohen, Ana S A; Le Pichon, Jean-Baptiste; Pastinen, Tomi; Zhou, Dihong; Engleman, Kendra; Racine, Caroline; Faivre, Laurence; Moutton, Sébastien; Denommé-Pichon, Anne-Sophie; Koh, Hyun Yong; Poduri, Annapurna; Bolton, Jeffrey; Knopp, Cordula; Julia Suh, Dong Sun; Maier, Andrea; Toosi, Mehran Beiraghi; Karimiani, Ehsan Ghayoor; Maroofian, Reza; Schaefer, Gerald Bradley; Ramakumaran, Vijayalakshmi; Vasudevan, Pradeep; Prasad, Chitra; Osmond, Matthew; Schuhmann, Sarah; Vasileiou, Georgia; Russ-Hall, Sophie; Scheffer, Ingrid E; Carvill, Gemma L; Mefford, Heather; Bacino, Carlos A; Lee, Brendan H; Chao, Hsiao-Tuan

A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder

E3泛素连接酶底物识别亚基FEM1B中一个反复出现的错义变异会导致一种罕见的综合征性神经发育障碍。

François Lecoquierre ,A Mattijs Punt ,Frédéric Ebstein ,Ilse Wallaard ,Rob Verhagen ,Maja Studencka-Turski ,Yannis Duffourd ,Sébastien Moutton ,Frédédic Tran Mau-Them ,Christophe Philippe ,John Dean ,Stephen Tennant ,Alice S Brooks ,Marjon A van Slegtenhorst ,Julie A Jurgens ,Brenda J Barry ,Wai-Man Chan ,Eleina M England ,Mayra Martinez Ojeda ,Elizabeth C Engle ,Caroline D Robson ,Michelle Morrow ,A Micheil Innes ,Ryan Lamont ,Matthea Sanderson ,Elke Krüger ,Christel Thauvin ,Ben Distel ,Laurence Faivre ,Ype Elgersma ,Antonio Vitobello

Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study)

人们获取ES次要研究结果的期望、需求和中期结果:法国第一项混合研究(FIND研究)

Viora-Dupont, Eléonore; Robert, Françoise; Chassagne, Aline; Pélissier, Aurore; Staraci, Stéphanie; Sanlaville, Damien; Edery, Patrick; Lesca, Gaetan; Putoux, Audrey; Pons, Linda; Cadenes, Amandine; Baurand, Amandine; Sawka, Caroline; Bertolone, Geoffrey; Spetchian, Myrtille; Yousfi, Meriem; Salvi, Dominique; Gautier, Elodie; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Bruel, Ange-Line; Tran Mau-Them, Frédéric; Faudet, Anne; Keren, Boris; Labalme, Audrey; Chatron, Nicolas; Abel, Carine; Dupuis-Girod, Sophie; Poisson, Alice; Buratti, Julien; Mignot, Cyril; Afenjar, Alexandra; Whalen, Sandra; Charles, Perrine; Heide, Solveig; Mouthon, Linda; Moutton, Sébastien; Sorlin, Arthur; Nambot, Sophie; Briffaut, Anne-Sophie; Asensio, Marie-Laure; Philippe, Christophe; Thauvin-Robinet, Christel; Héron, Delphine; Rossi, Massimiliano; Meunier-Bellard, Nicolas; Gargiulo, Marcela; Peyron, Christine; Binquet, Christine; Faivre, Laurence

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

常染色体隐性遗传TOR1A相关疾病的临床和遗传谱

Saffari, Afshin; Lau, Tracy; Tajsharghi, Homa; Karimiani, Ehsan Ghayoor; Kariminejad, Ariana; Efthymiou, Stephanie; Zifarelli, Giovanni; Sultan, Tipu; Toosi, Mehran Beiraghi; Sedighzadeh, Sahar; Siu, Victoria Mok; Ortigoza-Escobar, Juan Darío; AlShamsi, Aisha M; Ibrahim, Shahnaz; Al-Sannaa, Nouriya Abbas; Al-Hertani, Walla; Sandra, Whalen; Tarnopolsky, Mark; Alavi, Shahryar; Li, Chumei; Day-Salvatore, Debra-Lynn; Martínez-González, Maria Jesús; Levandoski, Kristin M; Bedoukian, Emma; Madan-Khetarpal, Suneeta; Idleburg, Michaela J; Menezes, Minal Juliet; Siddharth, Aishwarya; Platzer, Konrad; Oppermann, Henry; Smitka, Martin; Collins, Felicity; Lek, Monkol; Shahrooei, Mohmmad; Ghavideldarestani, Maryam; Herman, Isabella; Rendu, John; Faure, Julien; Baker, Janice; Bhambhani, Vikas; Calderwood, Laurel; Akhondian, Javad; Imannezhad, Shima; Mirzadeh, Hanieh Sadat; Hashemi, Narges; Doosti, Mohammad; Safi, Mojtaba; Ahangari, Najmeh; Torbati, Paria Najarzadeh; Abedini, Soheila; Salpietro, Vincenzo; Gulec, Elif Yilmaz; Eshaghian, Safieh; Ghazavi, Mohammadreza; Pascher, Michael T; Vogel, Marina; Abicht, Angela; Moutton, Sébastien; Bruel, Ange-Line; Rieubland, Claudine; Gallati, Sabina; Strom, Tim M; Lochmüller, Hanns; Mohammadi, Mohammad Hasan; Alvi, Javeria Raza; Zackai, Elaine H; Keena, Beth A; Skraban, Cara M; Berger, Seth I; Andrew, Erin H; Rahimian, Elham; Morrow, Michelle M; Wentzensen, Ingrid M; Millan, Francisca; Henderson, Lindsay B; Dafsari, Hormos Salimi; Jungbluth, Heinz; Gomez-Ospina, Natalia; McRae, Anne; Peter, Merlene; Veltra, Danai; Marinakis, Nikolaos M; Sofocleous, Christalena; Ashrafzadeh, Farah; Pehlivan, Davut; Lemke, Johannes R; Melki, Judith; Benezit, Audrey; Bauer, Peter; Weis, Denisa; Lupski, James R; Senderek, Jan; Christodoulou, John; Chung, Wendy K; Goodchild, Rose; Offiah, Amaka C; Moreno-De-Luca, Andres; Suri, Mohnish; Ebrahimi-Fakhari, Darius; Houlden, Henry; Maroofian, Reza

Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C

由POLR3A、POLR3B和POLR1C基因双等位基因变异引起的POLR3相关脑白质营养不良的颅面特征

Mirchi, Amytice; Guay, Simon-Pierre; Tran, Luan T; Wolf, Nicole I; Vanderver, Adeline; Brais, Bernard; Sylvain, Michel; Pohl, Daniela; Rossignol, Elsa; Saito, Michael; Moutton, Sebastien; González-Gutiérrez-Solana, Luis; Thiffault, Isabelle; Kruer, Michael C; Moron, Dolores Gonzales; Kauffman, Marcelo; Goizet, Cyril; Sztriha, László; Glamuzina, Emma; Melançon, Serge B; Naidu, Sakkubai; Retrouvey, Jean-Marc; Lacombe, Suzanne; Bernardino-Cuesta, Beatriz; De Bie, Isabelle; Bernard, Geneviève

Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis

结合全局搜索正则表达式和打印匹配行以及基因组数据库的文献监测,可以提高诊断准确性。

Tran Mau-Them, Frédéric; Overs, Alexis; Bruel, Ange-Line; Duquet, Romain; Thareau, Mylene; Denommé-Pichon, Anne-Sophie; Vitobello, Antonio; Sorlin, Arthur; Safraou, Hana; Nambot, Sophie; Delanne, Julian; Moutton, Sebastien; Racine, Caroline; Engel, Camille; De Giraud d'Agay, Melchior; Lehalle, Daphne; Goldenberg, Alice; Willems, Marjolaine; Coubes, Christine; Genevieve, David; Verloes, Alain; Capri, Yline; Perrin, Laurence; Jacquemont, Marie-Line; Lambert, Laetitia; Lacaze, Elodie; Thevenon, Julien; Hana, Nadine; Van-Gils, Julien; Dubucs, Charlotte; Bizaoui, Varoona; Gerard-Blanluet, Marion; Lespinasse, James; Mercier, Sandra; Guerrot, Anne-Marie; Maystadt, Isabelle; Tisserant, Emilie; Faivre, Laurence; Philippe, Christophe; Duffourd, Yannis; Thauvin-Robinet, Christel