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

Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants

癫痫发作对携带致病性GABRB2和GABRB3变异的个体粗大运动功能障碍的预测价值

Ortiz, Sebastian; Affronte, Leonardo; Bagliani, Chiara; El-Kamand, Serene; Kan, Anthony Sze Hon; Kristoffersen, Isabel T; Dahl, Rebekka S; Højte, Anne F; Auvin, Stéphane; Bouman, Arjan; Zeidler, Shimriet; Kluger, Gerhard; Lesca, Gaetan; Chatron, Nicolas; Goke-Samar, Zeynep; Papadopoulou, Maria T; Terzi, Matthildi Athina Papathanasiou; Schaefer, Elise; de Saint Martin, Anne; Baer, Sarah; Al Owain, Mohammed; Takroni, Saud; Al-Dhalaan, Hesham; Bonanni, Paolo; Rossi, Alessandra; Zanotta, Nicoletta; Trivisano, Marina; Specchio, Nicola; de Dominicis, Angela; Striano, Pasquale; Orsini, Alessandro; Mancardi, Maria Margherita; Neuens, Sebastian; Jennesson-Lyver, Melanie; Benkel-Herrenbrueck, Ira; Genevieve, David; Sidlow, Richard; Tezcan, Kamer; Krey, Ilona; Lemke, Johannes R; Platzer, Konrad; Lederer, Damien; Talvik, Inga; Vaher, Ulvi; Braun, Kees P J; Guerrot, Anne-Marie; More, Rebecca; De Wachter, Matthias; Weckhuysen, Sarah; Carapancea, Evelina; Cilio, Maria Roberta; Jacobs, Julia; Sterbova, Katalin; Balestrini, Simona; Guerrini, Renzo; Peroni, Giulio; Mero, Inger-Lise; ElNaggar, Walaa; Elkhateeb, Nour; Schmetz, Ariane; Chan, Denise L; Mirzaa, Ghayda M; Chaumette, Boris; Legrand, Adrien; McTague, Amy; Stödberg, Tommy; Harris, Rebekah V; Berkovic, Samuel F; Scheffer, Ingrid E; Chebib, Mary; Gardella, Elena; Ahring, Philip K; Absalom, Nathan L; Møller, Rikke S

Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools

对潜在剪接变体进行常规的基于RNA的分析有助于基因组诊断,并揭示计算机预测工具的局限性。

Drost, Mark; Dekker, Jordy; Ferraro, Federico; Kasteleijn, Esmee; Verschuren, Marije; Kroon, Evelien; Douben, Hannie C W; Vogt, Inte; van Unen, Leontine; Hoogeveen-Westerveld, Marianne; Elfferich, Peter; Schot, Rachel; Calandrini, Camilla; Korpershoek, Esther; Sleutels, Frank; Brüggenwirth, Hennie B R; Hollink, Iris R; Meerstein-Kessel, Lisette; Hoefsloot, Lies H; van Slegtenhorst, Marjon; Wilke, Martina; Weerts, Marjolein J A; van Minkelen, Rick; Wagner, Anja; Bouman, Arjan; van Paassen, Barbara W; Verheijen-Mancini, Grazia M; van de Laar, Ingrid M B H; Kievit, Anneke J A; Verhagen, Judith M A; Stuurman, Kyra E; Donker Kaat, Laura; van Dooren, Marieke F; Wessels, Marja W; Oldenburg, Rogier A; Zeidler, Shimriet; van Dijk, Tessa; Barakat, Tahsin Stefan; Verhoeven, Virginie J M; van Bever, Yolande; van Ierland, Yvette; Bannink, Natalja; van Koningsbruggen, Silvana; Lakeman, Phillis; Leeuwen, Lisette; Verbeek, Nienke E; Sinnema, Margje; Heijligers, Malou; van Asperen, Christi J; Saris, Jasper J; Nellist, Mark; van Ham, Tjakko J

Comprehensive classification of HCN1 variants linked to neurodevelopmental disorders with and without epilepsy

对与伴有或不伴有癫痫的神经发育障碍相关的HCN1变异体进行全面分类

Castelli, Roberta; Marini, Carla; Porro, Alessandro; Castellini, Anna; Fontana, Greta; Saponaro, Andrea; Cavalleri, Gianpiero; Rizzi, Susanna; Fusco, Carlo; Parida, Amitav; Caswell, Richard; Sherlaw, Charlotte; Pruna, Dario; Reid, Chris; Bleakley, Lauren E; Howell, Katherine B; Sheffer, Ingrid; Cuddapah, Vishnu Anad; Zeidler, Shimriet; Pavlidis, Elena; Pal, Deb; Szczałuba, Krzysztof; Mirzaa, Ghayda; Couque, Nathalie; Capri, Yline; Faivre, Laurence; Mau-Them, Frederic Tran; Sirchia, Fabio; Korff, Christian M; DiFrancesco, Dario; Thiel, Gerhard; Depienne, Christel; Santoro, Bina; Moroni, Anna

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

致病性UNC13A变异体通过损害突触功能导致神经发育综合征。

Asadollahi, Reza; Ahmad, Aisha; Boonsawat, Paranchai; Shahanoor Hinzen, Jasmine; Lohse, Mareike; Bouazza-Arostegui, Boris; Sun, Siqi; Utesch, Tillmann; Sommer, Jonas D; Ilic, Dragana; Padmanarayana, Murugesh; Fischermanns, Kati; Ranjan, Mrinalini; Boll, Moritz; Ka, Chandran; Piton, Amélie; Mattioli, Francesca; Isidor, Bertrand; Õunap, Katrin; Reinson, Karit; Wojcik, Monica H; Marshall, Christian R; Mercimek-Andrews, Saadet; Matsumoto, Naomichi; Miyake, Noriko; Stephan, Bruno de Oliveira; Honjo, Rachel Sayuri; Bertola, Debora R; Kim, Chong Ae; Yusupov, Roman; Mefford, Heather C; Christodoulou, John; Lee, Joy; Heath, Oliver; Brown, Natasha J; Baker, Naomi; Stark, Zornitza; Delatycki, Martin; Lake, Nicole J; Zeidler, Shimriet; Zuurbier, Linda; Maas, Saskia M; de Kruiff, Chris C; Rajabi, Farrah; Rodan, Lance H; Coury, Stephanie A; Platzer, Konrad; Oppermann, Henry; Abou Jamra, Rami; Beblo, Skadi; Maxton, Caroline; Śmigiel, Robert; Underhill, Hunter; Dubbs, Holly; Rosen, Alyssa; Helbig, Katherine L; Helbig, Ingo; Ruggiero, Sarah McKeown; Fitzgerald, Mark P; Kraemer, Dennis; Prada, Carlos E; Tenney, Jeffrey; Jayakar, Parul; Redon, Sylvia; Lefranc, Jérémie; Uguen, Kevin; Race, Simone; Efthymiou, Stephanie; Maroofian, Reza; Houlden, Henry; Coppens, Sandra; Deconinck, Nicolas; Ashokkumar, Balasubramaniem; Varalakshmi, Perumal; Gowda K, Vykunta Raju; Eghbal, Fatemeh; Ghayoor Karimiani, Ehsan; Heidari, Morteza; Neidhardt, John; Owczarek-Lipska, Marta; Korenke, G Christoph; Bamshad, Michael J; Campeau, Philippe M; Lehman, Anna; Hendon, Laura G; Wentzensen, Ingrid M; Monaghan, Kristin G; Chen, Yanmin; Szuto, Anna; Cohn, Ronald D; Au, Ping Yee Billie; Hübner, Christoph; Boschann, Felix; Manickam, Kandamurugu; Koboldt, Daniel C; Rad, Aboulfazl; Oprea, Gabriela; Bachman, Kristine K; Seeley, Andrea H; Agolini, Emanuele; Terracciano, Alessandra; Carmelo, Piscopo; Bupp, Caleb; Grysko, Bethany; Rein-Rothschild, Annick; Ben Zeev, Bruria; Margolin, Amy; Morrison, Jennifer; Dagli, Aditi; Stolerman, Elliot; Louie, Raymond J; Washington, Camerun; Stevens, Servi J C; Heijligers, Malou; Alkuraya, Fowzan S; Lisfeld, Jasmin; Neu, Axel; Paoli Monteiro, Fabíola; Santos Pessoa, André Luiz; Camelo-Filho, Antonio Edvan; Kok, Fernando; Koeberl, Dwight; Riley, Kacie; Burglen, Lydie; Doummar, Diane; Héron, Bénédicte; Mignot, Cyril; Keren, Boris; Charles, Perrine; Nava, Caroline; Bernhard, Felix P; Kühn, Andrea A; Thoms, Sven; Morrie, Ryan D; Mekhoubad, Shila; Green, Eric M; Barmada, Sami J; Gitler, Aaron D; Jahn, Olaf; Rhee, Jeong Seop; Rosenmund, Christian; Mitkovski, Mišo; Sticht, Heinrich; Sun, Han; Le Gac, Gerald; Taschenberger, Holger; Brose, Nils; Dittman, Jeremy S; Rauch, Anita; Lipstein, Noa

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders

ACTL6B相关常染色体隐性和显性遗传性脑发育障碍的临床和遗传学特征

Cali, Elisa; Quirin, Tania; Rocca, Clarissa; Efthymiou, Stephanie; Riva, Antonella; Marafi, Dana; Zaki, Maha S; Suri, Mohnish; Dominguez, Roberto; Elbendary, Hasnaa M; Alavi, Shahryar; Abdel-Hamid, Mohamed S; Morsy, Heba; Mau-Them, Frederic Tran; Nizon, Mathilde; Tesner, Pavel; Ryba, Lukáš; Zafar, Faisal; Rana, Nuzhat; Saadi, Nebal W; Firoozfar, Zahra; Gencpinar, Pinar; Unay, Bulent; Ustun, Canan; Bruel, Ange-Line; Coubes, Christine; Stefanich, Jennifer; Sezer, Ozlem; Agolini, Emanuele; Novelli, Antonio; Vasco, Gessica; Lettori, Donatella; Milh, Mathieu; Villard, Laurent; Zeidler, Shimriet; Opperman, Henry; Strehlow, Vincent; Issa, Mahmoud Y; El Khassab, Hebatallah; Chand, Prem; Ibrahim, Shahnaz; Rashidi-Nezhad, Ali; Miryounesi, Mohammad; Larki, Pegah; Morrison, Jennifer; Cristian, Ingrid; Thiffault, Isabelle; Bertsch, Nicole L; Noh, Grace J; Pappas, John; Moran, Ellen; Marinakis, Nikolaos M; Traeger-Synodinos, Joanne; Hosseini, Susan; Abbaszadegan, Mohammad Reza; Caumes, Roseline; Vissers, Lisenka E L M; Neshatdoust, Maedeh; Montazer Zohour, Mostafa; El Fahime, Elmostafa; Canavati, Christina; Kamal, Lara; Kanaan, Moien; Askander, Omar; Voinova, Victoria; Levchenko, Olga; Haider, Shahzhad; Halbach, Sara S; Elias Maia, Rayana; Mansoor, Salehi; Jain, Vivek; Tawde, Sanjukta; Challa, Viveka Santhosh R; Gowda, Vykuntaraju K; Srinivasan, Varunvenkat M; Victor, Lucas Alves; Pinero-Banos, Benito; Hague, Jennifer; ElAwady, Heba Ahmed; Maria de Miranda Henriques-Souza, Adelia; Cheema, Huma Arshad; Anjum, Muhammad Nadeem; Idkaidak, Sara; Alqarajeh, Firas; Atawneh, Osama; Mor-Shaked, Hagar; Harel, Tamar; Zifarelli, Giovanni; Bauer, Peter; Kok, Fernando; Kitajima, Joao Paulo; Monteiro, Fabiola; Josahkian, Juliana; Lesca, Gaetan; Chatron, Nicolas; Ville, Dorothe; Murphy, David; Neul, Jeffrey L; Mullegama, Sureni V; Begtrup, Amber; Herman, Isabella; Mitani, Tadahiro; Posey, Jennifer E; Tay, Chee Geap; Javed, Iram; Carr, Lucinda; Kanani, Farah; Beecroft, Fiona; Hane, Lee; Abdelkreem, Elsayed; Macek, Milan; Bispo, Luciana; Elmaksoud, Marwa Abd; Hashemi-Gorji, Farzad; Pehlivan, Davut; Amor, David J; Jamra, Rami Abou; Chung, Wendy K; Ghayoor Karimiani, Eshan; Campeau, Philippe M; Alkuraya, Fowzan S; Pagnamenta, Alistair T; Gleeson, Joseph G; Lupski, James R; Striano, Pasquale; Moreno-De-Luca, Andres; Lafontaine, Denis L J; Houlden, Henry; Maroofian, Reza

Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features

蛋白磷酸酶 1 调节亚基 3F (PPP1R3F) 的半合子变异与神经发育障碍有关,其特征是发育迟缓、智力障碍和自闭症

Zhigang Liu, Baozhong Xin, Iris N Smith, Valerie Sency, Julia Szekely, Anna Alkelai, Alan Shuldiner, Stephanie Efthymiou, Farrah Rajabi, Stephanie Coury, Catherine A Brownstein, Sabine Rudnik-Schöneborn, Ange-Line Bruel, Julien Thevenon, Shimriet Zeidler, Parul Jayakar, Axel Schmidt, Kirsten Cremer,

Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome

癫痫是KBG综合征的一个重要特征,与较差的发育结局相关。

Buijsse, Nathan; Jansen, Floor E; Ockeloen, Charlotte W; van Kempen, Marjan J A; Zeidler, Shimriet; Willemsen, Marjolein H; Scarano, Emanuela; Monticone, Sonia; Zonneveld-Huijssoon, Evelien; Low, Karen J; Bayat, Allan; Sisodiya, Sanjay M; Samanta, Debopam; Lesca, Gaetan; de Jong, Danielle; Giltay, Jaqcues C; Verbeek, Nienke E; Kleefstra, Tjitske; Brilstra, Eva H; Vlaskamp, Danique R M

Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies

GABRB3基因的功能获得性和功能丧失性变异会导致发育性脑病和癫痫性脑病患者出现不同的临床表型。

Absalom, Nathan L; Liao, Vivian W Y; Johannesen, Katrine M H; Gardella, Elena; Jacobs, Julia; Lesca, Gaetan; Gokce-Samar, Zeynep; Arzimanoglou, Alexis; Zeidler, Shimriet; Striano, Pasquale; Meyer, Pierre; Benkel-Herrenbrueck, Ira; Mero, Inger-Lise; Rummel, Jutta; Chebib, Mary; Møller, Rikke S; Ahring, Philip K

The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8

106例携带主要自闭症基因CHD8变异的患者的表型谱及基因型-表型相关性研究

Dingemans, Alexander J M; Truijen, Kim M G; van de Ven, Sam; Bernier, Raphael; Bongers, Ernie M H F; Bouman, Arjan; de Graaff-Herder, Laura; Eichler, Evan E; Gerkes, Erica H; De Geus, Christa M; van Hagen, Johanna M; Jansen, Philip R; Kerkhof, Jennifer; Kievit, Anneke J A; Kleefstra, Tjitske; Maas, Saskia M; de Man, Stella A; McConkey, Haley; Patterson, Wesley G; Dobson, Amy T; Prijoles, Eloise J; Sadikovic, Bekim; Relator, Raissa; Stevenson, Roger E; Stumpel, Connie T R M; Heijligers, Malou; Stuurman, Kyra E; Löhner, Katharina; Zeidler, Shimriet; Lee, Jennifer A; Lindy, Amanda; Zou, Fanggeng; Tedder, Matthew L; Vissers, Lisenka E L M; de Vries, Bert B A

Paradoxical effect of baclofen on social behavior in the fragile X syndrome mouse model

巴氯芬对脆性X综合征小鼠模型社会行为的矛盾效应

Zeidler, Shimriet; Pop, Andreea S; Jaafar, Israa A; de Boer, Helen; Buijsen, Ronald A M; de Esch, Celine E F; Nieuwenhuizen-Bakker, Ingeborg; Hukema, Renate K; Willemsen, Rob