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

Missense variants in DPYSL5 associated with neurodevelopmental disorders and brain malformations cause impaired neuronal maturation in vitro

DPYSL5基因中的错义变异与神经发育障碍和脑畸形相关,会导致体外神经元成熟受损。

Desprez, Florence; Remize, Solène; François-Moutal, Liberty; Ung, Dévina C; Dangoumau, Audrey; Marouillat, Sylviane; Kennedy, Joanna; Low, Karen J; Kumps, Camille; Unger, Sheila; Keren, Boris; de Sainte Agathe, Jean-Madeleine; Poirsier, Céline; Mirzaa, Ghayda M; Aldinger, Kimberly A; Lesca, Gaetan; Ruault, Valentin; Finnila, Candice R; Kelley, Whitley V; Latner, Donald R; Guptha, Sushma N; Tuttle, Annabelle; Glass, Ian; Chung, Wendy K; Hayek, Jennifer Cassady; Boute, Odile; Moutal, Aubin; Jeanne, Médéric; Laumonnier, Frédéric

ERN GENTURIS guideline on counselling on reproductive options for individuals with a cancer predisposition syndrome (including genturis)

ERN GENTURIS 指南:为患有癌症易感综合征(包括 Genturis)的个体提供生育选择咨询

Farschtschi, Said C; Kumps, Candy; Milagre, Tamara Hussong; Makrythanasis, Periklis; Van Tongerloo, Ariane; Denayer, Ellen; van Kouwen, Mariëtte; Carrasco López, Estela; Berghoff, Anna Sophie; Testa, Salvo; Cesaretti, Claudia; Trevisson, Eva; d' Oliveira, Renata; Fianchi, Francesca; Röhl, Claas; Salinas-Chaparro, Diana; Slegers, Ileen; Geilswijk, Marianne; Suerink, Manon; Spinelli, Irene; Janssens, Sandra; Pugh, Sarah; Sønderberg Roos, Laura Kirstine

Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability

UBR5基因杂合变异会导致一种神经发育综合征,表现为发育迟缓、自闭症和智力障碍。

Sabeh, Pascale; Dumas, Samantha A; Maios, Claudia; Daghar, Hiba; Korzeniowski, Marek; Rousseau, Justine; Lines, Matthew; Guerin, Andrea; Millichap, John J; Landsverk, Megan; Grebe, Theresa; Lindstrom, Kristin; Strober, Jonathan; Ait Mouhoub, Tarik; Zweier, Christiane; Steinraths, Michelle; Hebebrand, Moritz; Callewaert, Bert; Abou Jamra, Rami; Kautza-Lucht, Monika; Wegler, Meret; Kruszka, Paul; Kumps, Candy; Banne, Ehud; Waberski, Marta Biderman; Dieux, Anne; Raible, Sarah; Krantz, Ian; Medne, Livija; Pechter, Kieran; Villard, Laurent; Guerrini, Renzo; Bianchini, Claudia; Barba, Carmen; Mei, Davide; Blanc, Xavier; Kallay, Christine; Ranza, Emmanuelle; Yang, Xiao-Ru; O'Heir, Emily; Donald, Kirsten A; Murugasen, Serini; Bruwer, Zandre; Calikoglu, Muge; Mathews, Jennifer M; Lesieur-Sebellin, Marion; Baujat, Geneviève; Derive, Nicolas; Pierson, Tyler Mark; Murrell, Jill R; Shillington, Amelle; Ormieres, Clothilde; Rondeau, Sophie; Reis, André; Fernandez-Jaen, Alberto; Au, Ping Yee Billie; Sweetser, David A; Briere, Lauren C; Couque, Nathalie; Perrin, Laurence; Schymick, Jennifer; Gueguen, Paul; Lefebvre, Mathilde; Van Andel, Michael; Juusola, Jane; Antonarakis, Stylianos E; Parker, J Alex; Burnett, Barrington G; Campeau, Philippe M

Cracking rare disorders: a new minimally invasive RNA-seq protocol

破解罕见疾病:一种新的微创RNA测序方案

Laurenz De Cock # ,Erika D'haenens # ,Lies Vantomme ,Lynn Backers ,Aude Beyens ,Kathleen Bm Claes ,Griet De Clercq ,Robin de Putter ,Candy Kumps ,Nika Schuermans ,Jo Sourbron ,Hannes Syryn ,Simon Tavernier ,Eva Vanbelleghem ,Olivier Vanakker ,Bart Vandekerckhove ,Tim Van Damme ,Bert Callewaert ,Annelies Dheedene ,Sarah Vergult ,Björn Menten

CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management

CDK13相关疾病:27例病例系列研究的新见解及临床管理建议

Contrò, Gianluca; Baroni, Maria Chiara; Caraffi, Stefano Giuseppe; Napoli, Manuela; Artuso, Rosangela; Giliberti, Annarita; Bargiacchi, Sara; Mancano, Giorgia; Traficante, Giovanna; Mucciolo, Mafalda; Radio, Francesca Clementina; Cordeddu, Viviana; Mancini, Cecilia; Bottillo, Irene; Pirro, Federica Anna; Bonati, Maria Teresa; Becker, Cord-Christian; Carli, Diana; Mussa, Alessandro; Gonzalez, Maria Isis Atallah; Ruiz-Arana, Inge Lore; Kumps, Camille; Maystadt, Isabelle; Moortgat, Stephanie; Peker, Alp; Piccione, Maria; Grammatico, Paola; Rostomashvili, Nino; Lévy, Jonathan; Scala, Marcello; Capra, Valeria; Torella, Annalaura; van Eyk, Clare; Isidor, Bertrand; Cogne, Benjamin; Srivastava, Siddharth; Quinlan, Aisling; Vaisfeld, Alessandro; Licchetta, Laura; Frattini, Daniele; Graziano, Claudio; Severi, Giulia; Bacchi, Isabelle; Soliani, Luca; Sherr, Elliott H; Argilli, Emanuela; Goel, Himanshu; De Luca, Chiara; Leonardi, Silvia; Brancati, Francesco; Faletra, Flavio; Mio, Catia; Braibanti, Silvia; Gargano, Giancarlo; Fusco, Carlo; Novelli, Antonio; Tartaglia, Marco; Garavelli, Livia

Prenatal Diagnosis of Okur-Chung Syndrome: Ultrasound Findings and Implications of CSNK2A1 and KCNQ5 Variants

Okur-Chung综合征的产前诊断:超声检查结果及CSNK2A1和KCNQ5变异的意义

Kratochwila, Chiara; Sichitiu, Joanna; Lebon, Sébastien; Kumps, Camille; Pomar, Léo

Methylation signatures in clinically variable syndromic disorders: a familial DNMT3A variant in two adults with Tatton-Brown-Rahman syndrome

临床表现多样的综合征疾病中的甲基化特征:两名患有 Tatton-Brown-Rahman 综合征的成年人携带家族性 DNMT3A 变异

Kumps, Candy; D'haenens, Erika; Kerkhof, Jennifer; McConkey, Haley; Alders, Marielle; Sadikovic, Bekim; Vanakker, Olivier M

O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum

奥唐奈-卢里亚-罗丹综合征:第二个多国队列的描述及表型谱的完善

Velmans, Clara; O'Donnell-Luria, Anne H; Argilli, Emanuela; Tran Mau-Them, Frederic; Vitobello, Antonio; Chan, Marcus Cy; Fung, Jasmine Lee-Fong; Rech, Megan; Abicht, Angela; Aubert Mucca, Marion; Carmichael, Jason; Chassaing, Nicolas; Clark, Robin; Coubes, Christine; Denommé-Pichon, Anne-Sophie; de Dios, John Karl; England, Eleina; Funalot, Benoit; Gerard, Marion; Joseph, Maries; Kennedy, Colleen; Kumps, Camille; Willems, Marjolaine; van de Laar, Ingrid M B H; Aarts-Tesselaar, Coranne; van Slegtenhorst, Marjon; Lehalle, Daphné; Leppig, Kathleen; Lessmeier, Lennart; Pais, Lynn S; Paterson, Heather; Ramanathan, Subhadra; Rodan, Lance H; Superti-Furga, Andrea; Chung, Brian H Y; Sherr, Elliott; Netzer, Christian; Schaaf, Christian P; Erger, Florian

Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder

ZNF142基因的双等位基因变异会导致一种综合征性神经发育障碍

Christensen, Maria B; Levy, Amanda M; Mohammadi, Nazanin A; Niceta, Marcello; Kaiyrzhanov, Rauan; Dentici, Maria Lisa; Al Alam, Chadi; Alesi, Viola; Benoit, Valérie; Bhatia, Kailash P; Bierhals, Tatjana; Boßelmann, Christian M; Buratti, Julien; Callewaert, Bert; Ceulemans, Berten; Charles, Perrine; De Wachter, Matthias; Dehghani, Mohammadreza; D'haenens, Erika; Doco-Fenzy, Martine; Geßner, Michaela; Gobert, Cyrielle; Guliyeva, Ulviyya; Haack, Tobias B; Hammer, Trine B; Heinrich, Tilman; Hempel, Maja; Herget, Theresia; Hoffmann, Ute; Horvath, Judit; Houlden, Henry; Keren, Boris; Kresge, Christina; Kumps, Candy; Lederer, Damien; Lermine, Alban; Magrinelli, Francesca; Maroofian, Reza; Vahidi Mehrjardi, Mohammad Yahya; Moudi, Mahdiyeh; Müller, Amelie J; Oostra, Anna J; Pletcher, Beth A; Ros-Pardo, David; Samarasekera, Shanika; Tartaglia, Marco; Van Schil, Kristof; Vogt, Julie; Wassmer, Evangeline; Winkelmann, Juliane; Zaki, Maha S; Zech, Michael; Lerche, Holger; Radio, Francesca Clementina; Gomez-Puertas, Paulino; Møller, Rikke S; Tümer, Zeynep

De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures

在患有智力障碍、发育倒退和社会认知缺陷但无癫痫发作的患者中发现了 CACNA1E 的新生变异

Royer-Bertrand, Beryl; Jequier Gygax, Marine; Cisarova, Katarina; Rosenfeld, Jill A; Bassetti, Jennifer A; Moldovan, Oana; O'Heir, Emily; Burrage, Lindsay C; Allen, Jake; Emrick, Lisa T; Eastman, Emma; Kumps, Camille; Abbas, Safdar; Van Winckel, Geraldine; Chabane, Nadia; Zackai, Elaine H; Lebon, Sebastien; Keena, Beth; Bhoj, Elizabeth J; Umair, Muhammad; Li, Dong; Donald, Kirsten A; Superti-Furga, Andrea