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

Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome

CHD3 的遗传变异在 Snijders Blok-Campeau 综合征中表现出不同的表现

Jet van der Spek, Joery den Hoed, Lot Snijders Blok, Alexander J M Dingemans, Dick Schijven, Christoffer Nellaker, Hanka Venselaar, Galuh D N Astuti, Tahsin Stefan Barakat, E Martina Bebin, Stefanie Beck-Wödl, Gea Beunders, Natasha J Brown, Theresa Brunet, Han G Brunner, Philippe M Campeau, Goran Ču

Disruption of MeCP2-TCF20 complex underlies distinct neurodevelopmental disorders

MeCP2-TCF20 复合物的破坏是导致不同神经发育障碍的根本原因

Jian Zhou, Hamdan Hamdan, Hari Krishna Yalamanchili, Kaifang Pang, Amy E Pohodich, Joanna Lopez, Yingyao Shao, Juan A Oses-Prieto, Lifang Li, Wonho Kim, Mark A Durham, Sameer S Bajikar, Donna J Palmer, Philip Ng, Michelle L Thompson, E Martina Bebin, Amelie J Müller, Alma Kuechler, Antje Kampmeier, 

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy

AFF3降解子区域的变异与智力障碍、肢体中段发育不良、马蹄肾和癫痫性脑病相关。

Norine Voisin ,Rhonda E Schnur ,Sofia Douzgou ,Susan M Hiatt ,Cecilie F Rustad ,Natasha J Brown ,Dawn L Earl ,Boris Keren ,Olga Levchenko ,Sinje Geuer ,Sarah Verheyen ,Diana Johnson ,Yuri A Zarate ,Miroslava Hančárová ,David J Amor ,E Martina Bebin ,Jasmin Blatterer ,Alfredo Brusco ,Gerarda Cappuccio ,Joel Charrow ,Nicolas Chatron ,Gregory M Cooper ,Thomas Courtin ,Elena Dadali ,Julien Delafontaine ,Ennio Del Giudice ,Martine Doco ,Ganka Douglas ,Astrid Eisenkölbl ,Tara Funari ,Giuliana Giannuzzi ,Ursula Gruber-Sedlmayr ,Nicolas Guex ,Delphine Heron ,Øystein L Holla ,Anna C E Hurst ,Jane Juusola ,David Kronn ,Alexander Lavrov ,Crystle Lee ,Séverine Lorrain ,Else Merckoll ,Anna Mikhaleva ,Jennifer Norman ,Sylvain Pradervand ,Darina Prchalová ,Lindsay Rhodes ,Victoria R Sanders ,Zdeněk Sedláček ,Heidelis A Seebacher ,Elizabeth A Sellars ,Fabio Sirchia ,Toshiki Takenouchi ,Akemi J Tanaka ,Heidi Taska-Tench ,Elin Tønne ,Kristian Tveten ,Giuseppina Vitiello ,Markéta Vlčková ,Tomoko Uehara ,Caroline Nava ,Binnaz Yalcin ,Kenjiro Kosaki ,Dian Donnai ,Stefan Mundlos ,Nicola Brunetti-Pierri ,Wendy K Chung ,Alexandre Reymond

Variant-specific changes in persistent or resurgent sodium current in SCN8A-related epilepsy patient-derived neurons

SCN8A相关癫痫患者来源神经元中持续性或复发性钠电流的变异特异性变化

Tidball, Andrew M; Lopez-Santiago, Luis F; Yuan, Yukun; Glenn, Trevor W; Margolis, Joshua L; Clayton Walker, J; Kilbane, Emma G; Miller, Christopher A; Martina Bebin, E; Scott Perry, M; Isom, Lori L; Parent, Jack M

De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder

Mediator复合物的组成部分MED13的新生突变与一种新的神经发育障碍相关。

Lot Snijders Blok ,Susan M Hiatt ,Kevin M Bowling ,Jeremy W Prokop ,Krysta L Engel ,J Nicholas Cochran ,E Martina Bebin ,Emilia K Bijlsma ,Claudia A L Ruivenkamp ,Paulien Terhal ,Marleen E H Simon ,Rosemarie Smith ,Jane A Hurst ,Richard Person ,Amy Crunk ,Michael F Wangler ,Haley Streff ,Joseph D Symonds ,Sameer M Zuberi ,Katherine S Elliott ,Victoria R Sanders ,Abigail Masunga ,Robert J Hopkin ,Holly A Dubbs ,Xilma R Ortiz-Gonzalez ,Rolph Pfundt ,Han G Brunner ,Simon E Fisher ,Tjitske Kleefstra ,Gregory M Cooper

Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism

EBF3 突变会扰乱转录谱并导致智力障碍、共济失调和面部畸形

Frederike Leonie Harms, Katta M Girisha, Andrew A Hardigan, Fanny Kortüm, Anju Shukla, Malik Alawi, Ashwin Dalal, Lauren Brady, Mark Tarnopolsky, Lynne M Bird, Sophia Ceulemans, Martina Bebin, Kevin M Bowling, Susan M Hiatt, Edward J Lose, Michelle Primiano, Wendy K Chung, Jane Juusola, Zeynep C Akd

Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy

局灶性皮质发育不良和癫痫中 MTOR 基因的种系和体细胞突变

Rikke S Møller, Sarah Weckhuysen, Mathilde Chipaux, Elise Marsan, Valerie Taly, E Martina Bebin, Susan M Hiatt, Jeremy W Prokop, Kevin M Bowling, Davide Mei, Valerio Conti, Pierre de la Grange, Sarah Ferrand-Sorbets, Georg Dorfmüller, Virginie Lambrecq, Line H G Larsen, Eric Leguern, Renzo Guerrini,