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

A clinical and genotype-phenotype analysis of MACF1 variants

MACF1变异体的临床和基因型-表型分析

Dekker, Jordy; Schot, Rachel; Aldinger, Kimberly A; Everman, David B; Washington, Camerun; Jones, Julie R; Sullivan, Jennifer A; Spillmann, Rebecca C; Shashi, Vandana; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Mosca-Boidron, Anne-Laure; Perrin, Laurence; Auvin, Stéphane; Zaki, Maha S; Gleeson, Joseph G; Meave, Naomi; Wallace, Cassidy; Nambot, Sophie; Delanne, Julian; Ruggiero, Sarah M; Helbig, Ingo; Fitzgerald, Mark P; Leventer, Richard J; Grange, Dorothy K; Argilli, Emanuela; Sherr, Elliott H; Prakash, Supraja; Neilson, Derek E; Nicita, Francesco; Sferra, Antonella; Bertini, Enrico S; Aiello, Chiara; Brockmann, Knut; Kuranov, Alexander B; Kaulfuss, Silke; Basit, Sulman; Alluqmani, Majed; Almatrafi, Ahmad; Friedman, Jan M; Guimond, Colleen; Mohammed, Faruq; Sharma, Pooja; Goel, Divya; Wirth, Thomas; Anheim, Mathieu; Bahena, Paulina; Koparir, Asuman; Kolokotronis, Konstantinos; Vona, Barbara; Haaf, Thomas; Kunstmann, Erdmute; Maroofian, Reza; Sczakiel, Henrike L; Boschann, Felix; Misra-Isrie, Mala; Louie, Raymond J; Stolerman, Elliot S; Sanchez-Lara, Pedro A; Mergler, Sandra; Oegema, Renske; Zarate, Yuri A; Kariminejad, Ariana; Tajsharghi, Homa; Zeidler, Shimriet; Kievit, Anneke J A; Bouman, Arjan; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Stuurman, Kyra E; Swols, Dayna Morel; Tekin, Mustafa; Upadia, Jariya; Martin, Donna M; Craven, Daniel; Hiatt, Susan M; van de Pol, Laura A; D'Arco, Felice; Margot, Henri; Wilke, Martina; Yousefi, Soheil; Barakat, Tahsin Stefan; van Veghel-Plandsoen, Monique M; Aronica, Eleonora; Anink, Jasper; Rogers, Stephen L; Slep, Kevin C; Doherty, Dan; Dobyns, William B; Mancini, Grazia M S

The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant

TRIP12 变异个体的神经发育和面部表型

Aerden, Mio; Denommé-Pichon, Anne-Sophie; Bonneau, Dominique; Bruel, Ange-Line; Delanne, Julian; Gérard, Bénédicte; Mazel, Benoît; Philippe, Christophe; Pinson, Lucile; Prouteau, Clément; Putoux, Audrey; Tran Mau-Them, Frédéric; Viora-Dupont, Éléonore; Vitobello, Antonio; Ziegler, Alban; Piton, Amélie; Isidor, Bertrand; Francannet, Christine; Maillard, Pierre-Yves; Julia, Sophie; Philippe, Anais; Schaefer, Elise; Koene, Saskia; Ruivenkamp, Claudia; Hoffer, Mariette; Legius, Eric; Theunis, Miel; Keren, Boris; Buratti, Julien; Charles, Perrine; Courtin, Thomas; Misra-Isrie, Mala; van Haelst, Mieke; Waisfisz, Quinten; Wieczorek, Dagmar; Schmetz, Ariane; Herget, Theresia; Kortüm, Fanny; Lisfeld, Jasmin; Debray, François-Guillaume; Bramswig, Nuria C; Atallah, Isis; Fodstad, Heidi; Jouret, Guillaume; Almoguera, Berta; Tahsin-Swafiri, Saoud; Santos-Simarro, Fernando; Palomares-Bralo, Maria; López-González, Vanesa; Kibaek, Maria; Tørring, Pernille M; Renieri, Alessandra; Bruno, Lucia Pia; Õunap, Katrin; Wojcik, Monica; Hsieh, Tzung-Chien; Krawitz, Peter; Van Esch, Hilde

Reduced MUNC18-1 Levels, Synaptic Proteome Changes, and Altered Network Activity in STXBP1-Related Disorder Patient Neurons

STXBP1 相关疾病患者神经元中的 MUNC18-1 水平降低、突触蛋白质组变化和网络活动改变

Annemiek Arienne van Berkel, Hanna Charlotte Andrea Lammertse, Miriam Öttl, Frank Koopmans, Mala Misra-Isrie, Marieke Meijer, Robertino Dilena, Peter Marin van Hasselt, Marc Engelen, Mieke van Haelst, August Benjamin Smit, Sophie van der Sluis, Ruud Franciscus Toonen, Matthijs Verhage

Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes

22名智力障碍男性患者的MED12错义变异:从非特异性症状到完全综合征

Maia, Nuno; Ibarluzea, Nekane; Misra-Isrie, Mala; Koboldt, Daniel C; Marques, Isabel; Soares, Gabriela; Santos, Rosário; Marcelis, Carlo L M; Keski-Filppula, Riikka; Guitart, Miriam; Gabau Vila, Elisabeth; Lehman, April; Hickey, Scott; Mori, Mari; Terhal, Paulien; Valenzuela, Irene; Lasa-Aranzasti, Amaia; Cueto-González, Anna Maria; Chhouk, Brian H; Yeh, Rebecca C; Neil, Jennifer E; Abu-Libde, Bassam; Kleefstra, Tjitske; Elting, Mariet W; Császár, Andrea; Kárteszi, Judit; Bessenyei, Beáta; van Bokhoven, Hans; Jorge, Paula; van Hagen, Johanna M; de Brouwer, Arjan P M

Assessing the landscape of STXBP1-related disorders in 534 individuals

对 534 名个体中 STXBP1 相关疾病的概况进行评估

Xian, Julie; Parthasarathy, Shridhar; Ruggiero, Sarah M; Balagura, Ganna; Fitch, Eryn; Helbig, Katherine; Gan, Jing; Ganesan, Shiva; Kaufman, Michael C; Ellis, Colin A; Lewis-Smith, David; Galer, Peter; Cunningham, Kristin; O'Brien, Margaret; Cosico, Mahgenn; Baker, Kate; Darling, Alejandra; Veiga de Goes, Fernanda; El Achkar, Christelle M; Doering, Jan Henje; Furia, Francesca; García-Cazorla, Ángeles; Gardella, Elena; Geertjens, Lisa; Klein, Courtney; Kolesnik-Taylor, Anna; Lammertse, Hanna; Lee, Jeehun; Mackie, Alexandra; Misra-Isrie, Mala; Olson, Heather; Sexton, Emma; Sheidley, Beth; Smith, Lacey; Sotero, Luiza; Stamberger, Hannah; Syrbe, Steffen; Thalwitzer, Kim Marie; van Berkel, Annemiek; van Haelst, Mieke; Yuskaitis, Christopher; Weckhuysen, Sarah; Prosser, Ben; Son Rigby, Charlene; Demarest, Scott; Pierce, Samuel; Zhang, Yuehua; Møller, Rikke S; Bruining, Hilgo; Poduri, Annapurna; Zara, Federico; Verhage, Matthijs; Striano, Pasquale; Helbig, Ingo

Episignature Mapping of TRIP12 Provides Functional Insight into Clark-Baraitser Syndrome

TRIP12 表观遗传标记图谱为 Clark-Baraitser 综合征的功能研究提供了重要信息

van der Laan, Liselot; Rooney, Kathleen; Alders, Mariëlle; Relator, Raissa; McConkey, Haley; Kerkhof, Jennifer; Levy, Michael A; Lauffer, Peter; Aerden, Mio; Theunis, Miel; Legius, Eric; Tedder, Matthew L; Vissers, Lisenka E L M; Koene, Saskia; Ruivenkamp, Claudia; Hoffer, Mariette J V; Wieczorek, Dagmar; Bramswig, Nuria C; Herget, Theresia; González, Vanesa López; Santos-Simarro, Fernando; Tørring, Pernille M; Denomme-Pichon, Anne-Sophie; Isidor, Bertrand; Keren, Boris; Julia, Sophie; Schaefer, Elise; Francannet, Christine; Maillard, Pierre-Yves; Misra-Isrie, Mala; Van Esch, Hilde; Mannens, Marcel M A M; Sadikovic, Bekim; van Haelst, Mieke M; Henneman, Peter

Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq

通过靶向 RNA 测序解析 1 型致病性神经纤维瘤病 (NF1) RNA 剪接

R Koster, R D Brandão, D Tserpelis, C E P van Roozendaal, C N van Oosterhoud, K B M Claes, A D C Paulussen, M Sinnema, M Vreeburg, V van der Schoot, C T R M Stumpel, M P G Broen, L Spruijt, M C J Jongmans, S A J Lesnik Oberstein, A S Plomp, M Misra-Isrie, F A Duijkers, M J Louwers, R Szklarczyk, K W

STXBP1 Syndrome Is Characterized by Inhibition-Dominated Dynamics of Resting-State EEG

STXBP1综合征的特征是静息态脑电图以抑制为主的动态变化。

Houtman, Simon J; Lammertse, Hanna C A; van Berkel, Annemiek A; Balagura, Ganna; Gardella, Elena; Ramautar, Jennifer R; Reale, Chiara; Møller, Rikke S; Zara, Federico; Striano, Pasquale; Misra-Isrie, Mala; van Haelst, Mieke M; Engelen, Marc; van Zuijen, Titia L; Mansvelder, Huibert D; Verhage, Matthijs; Bruining, Hilgo; Linkenkaer-Hansen, Klaus

Myotonic dystrophy presenting as severely dilated cardiomyopathy with out-of-hospital cardiac arrest

肌强直性营养不良表现为严重扩张型心肌病,并伴有院外心脏骤停

Isrie, M; Wong, L; van Hagen, J M; Houweling, A C

Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type

TUBB 或 MAPRE2 基因突变导致皮肤周围出现 Kunze 型皱纹

Mala Isrie, Martin Breuss, Guoling Tian, Andi Harley Hansen, Francesca Cristofoli, Jasmin Morandell, Zachari A Kupchinsky, Alejandro Sifrim, Celia Maria Rodriguez-Rodriguez, Elena Porta Dapena, Kurston Doonanco, Norma Leonard, Faten Tinsa, Stéphanie Moortgat, Hakan Ulucan, Erkan Koparir, Ender Karac