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

Human neuronal networks on micro-electrode arrays as a tool to assess genotype-phenotype correlation in CACNA1A-related disorders

利用微电极阵列构建人类神经元网络,作为评估 CACNA1A 相关疾病中基因型-表型相关性的工具

Hommersom, Marina P; Puvogel, Sofía; Scheefhals, Nicky; Carpentiero, Eleonora; Bouma, Marga; van Beusekom, Ellen; Dillen, Lieke; van de Warrenburg, Bart P C; Nadif Kasri, Nael; van Bokhoven, Hans

CACNA1A haploinsufficiency leads to reduced synaptic function and increased intrinsic excitability.

CACNA1A 单倍体不足会导致突触功能降低和内在兴奋性增加

Hommersom Marina P, Doorn Nina, Puvogel Sofía, Lewerissa Elly I, Mordelt Annika, Ciptasari Ummi, Kampshoff Franziska, Dillen Lieke, van Beusekom Ellen, Oudakker Astrid, Kogo Naoki, Dolga Amalia M, Frega Monica, Schubert Dirk, van de Warrenburg Bart P C, Nadif Kasri Nael, van Bokhoven Hans

Genetic Inactivation of the Serotonin Transporter Dysregulates Expression of Neurotransmission Genes and Genome-Wide DNA Methylation Levels in the Medial Prefrontal Cortex of Male Rats During Postnatal Development

血清素转运蛋白基因失活导致雄性大鼠出生后发育过程中内侧前额叶皮层神经递质基因表达和全基因组DNA甲基化水平紊乱

Kroeze, Yvet; Oti, Martin; Cooijmans, Roel H M; van Beusekom, Ellen; Kroeze, Leonie I; Middelman, Anthonieke; van Bokhoven, Hans; Kolk, Sharon M; Homberg, Judith R; Zhou, Huiqing

A complex structural variant near SOX3 causes X-linked split-hand/foot malformation

SOX3基因附近的复杂结构变异导致X连锁裂手/裂足畸形

de Boer, Elke; Marcelis, Carlo; Neveling, Kornelia; van Beusekom, Ellen; Hoischen, Alexander; Klein, Willemijn M; de Leeuw, Nicole; Mantere, Tuomo; Melo, Uirá S; van Reeuwijk, Jeroen; Smeets, Dominique; Spielmann, Malte; Kleefstra, Tjitske; van Bokhoven, Hans; Vissers, Lisenka E L M

Phenotypic and mutational spectrum of ROR2-related Robinow syndrome

ROR2相关Robinow综合征的表型和突变谱

Lima, Ariadne R; Ferreira, Barbara M; Zhang, Chaofan; Jolly, Angad; Du, Haowei; White, Janson J; Dawood, Moez; Lins, Tulio C; Chiabai, Marcela A; van Beusekom, Ellen; Cordoba, Mara S; Caldas Rosa, Erica C C; Kayserili, Hulya; Kimonis, Virginia; Wu, Erica; Mellado, Cecilia; Aggarwal, Vineet; Richieri-Costa, Antonio; Brunoni, Décio; Canó, Talyta M; Jorge, Alexander A L; Kim, Chong A; Honjo, Rachel; Bertola, Débora R; Dandalo-Girardi, Raissa M; Bayram, Yavuz; Gezdirici, Alper; Yilmaz-Gulec, Elif; Gumus, Evren; Yilmaz, Gülay C; Okamoto, Nobuhiko; Ohashi, Hirofumi; Coban-Akdemir, Zeynep; Mitani, Tadahiro; Jhangiani, Shalini N; Muzny, Donna M; Regattieri, Neysa A P; Pogue, Robert; Pereira, Rinaldo W; Otto, Paulo A; Gibbs, Richard A; Ali, Bassam R; van Bokhoven, Hans; Brunner, Han G; Sutton, V Reid; Lupski, James R; Vianna-Morgante, Angela M; Carvalho, Claudia M B; Mazzeu, Juliana F

Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder

NTNG2基因的纯合错义变异(编码突触前Netrin-G2黏附蛋白)会导致一种独特的神经发育障碍。

Dias, Caroline M; Punetha, Jaya; Zheng, Céline; Mazaheri, Neda; Rad, Abolfazl; Efthymiou, Stephanie; Petersen, Andrea; Dehghani, Mohammadreza; Pehlivan, Davut; Partlow, Jennifer N; Posey, Jennifer E; Salpietro, Vincenzo; Gezdirici, Alper; Malamiri, Reza Azizi; Al Menabawy, Nihal M; Selim, Laila A; Vahidi Mehrjardi, Mohammad Yahya; Banu, Selina; Polla, Daniel L; Yang, Edward; Rezazadeh Varaghchi, Jamileh; Mitani, Tadahiro; van Beusekom, Ellen; Najafi, Maryam; Sedaghat, Alireza; Keller-Ramey, Jennifer; Durham, Leslie; Coban-Akdemir, Zeynep; Karaca, Ender; Orlova, Valeria; Schaeken, Lieke L M; Sherafat, Amir; Jhangiani, Shalini N; Stanley, Valentina; Shariati, Gholamreza; Galehdari, Hamid; Gleeson, Joseph G; Walsh, Christopher A; Lupski, James R; Seiradake, Elena; Houlden, Henry; van Bokhoven, Hans; Maroofian, Reza

Deletions and loss-of-function variants in TP63 associated with orofacial clefting

与颌面裂相关的 TP63 缺失和功能丧失变异

Kriti D Khandelwal, Marie-José H van den Boogaard, Sarah L Mehrem, Jakob Gebel, Christina Fagerberg, Ellen van Beusekom, Ellen van Binsbergen, Ozan Topaloglu, Marloes Steehouwer, Christian Gilissen, Nina Ishorst, Iris A L M van Rooij, Nel Roeleveld, Kaare Christensen, Joseph Schoenaers, Stefaan Berg

Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

更正:BMP拮抗剂SMOC-1的缺失会导致人类和小鼠出现眼肢端畸形(瓦尔登堡无眼症)综合征

Rainger, Joe; van Beusekom, Ellen; Ramsay, Jacqueline K; McKie, Lisa; Al-Gazali, Lihadh; Pallotta, Rosanna; Saponari, Anita; Branney, Peter; Fisher, Malcolm; Morrison, Harris; Bicknell, Louise; Gautier, Philippe; Perry, Paul; Sokhi, Kishan; Sexton, David; Bardakjian, Tanya M; Schneider, Adele S; Elcioglu, Nursel; Ozkinay, Ferda; Koenig, Rainer; Mégarbané, Andre; Semerci, C Nur; Khan, Ayesha; Zafar, Saemah; Hennekam, Raoul; Sousa, Sérgio B; Ramos, Lina; Garavelli, Livia; Furga, Andrea Superti; Wischmeijer, Anita; Jackson, Ian J; Gillessen-Kaesbach, Gabriele; Brunner, Han G; Wieczorek, Dagmar; van Bokhoven, Hans; FitzPatrick, David R

Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis

LRP6基因的新突变凸显了WNT信号通路在牙齿缺失中的作用

Ockeloen, Charlotte W; Khandelwal, Kriti D; Dreesen, Karoline; Ludwig, Kerstin U; Sullivan, Robert; van Rooij, Iris A L M; Thonissen, Michelle; Swinnen, Steven; Phan, Milien; Conte, Federica; Ishorst, Nina; Gilissen, Christian; RoaFuentes, Laury; van de Vorst, Maartje; Henkes, Arjen; Steehouwer, Marloes; van Beusekom, Ellen; Bloemen, Marjon; Vankeirsbilck, Bruno; Bergé, Stefaan; Hens, Greet; Schoenaers, Joseph; Poorten, Vincent Vander; Roosenboom, Jasmien; Verdonck, An; Devriendt, Koen; Roeleveldt, Nel; Jhangiani, Shalini N; Vissers, Lisenka E L M; Lupski, James R; de Ligt, Joep; Von den Hoff, Johannes W; Pfundt, Rolph; Brunner, Han G; Zhou, Huiqing; Dixon, Jill; Mangold, Elisabeth; van Bokhoven, Hans; Dixon, Michael J; Kleefstra, Tjitske; Hoischen, Alexander; Carels, Carine E L

Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome

β-1,3-N-乙酰氨基葡萄糖转移酶1 (B3GNT1) 的错义突变会导致沃克-瓦尔堡综合征。

Buysse, Karen; Riemersma, Moniek; Powell, Gareth; van Reeuwijk, Jeroen; Chitayat, David; Roscioli, Tony; Kamsteeg, Erik-Jan; van den Elzen, Christa; van Beusekom, Ellen; Blaser, Susan; Babul-Hirji, Riyana; Halliday, William; Wright, Gavin J; Stemple, Derek L; Lin, Yung-Yao; Lefeber, Dirk J; van Bokhoven, Hans