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

Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder.

锌指同源框 4 基因 (ZFHX4) 功能丧失是神经发育障碍的根本原因

Pérez Baca María Del Rocío, Palomares-Bralo María, Vanhooydonck Michiel, Hamerlinck Lisa, D'haene Eva, Leimbacher Sebastian, Jacobs Eva Z, De Cock Laurenz, D'haenens Erika, Dheedene Annelies, Malfait Zoë, Vantomme Lies, Silva Ananilia, Rooney Kathleen, Zhao Xiaonan, Saeidian Amir Hossein, Owen Nichole Marie, Santos-Simarro Fernando, Lleuger-Pujol Roser, García-Miñaúr Sixto, Losantos-García Itsaso, Menten Björn, Gestri Gaia, Ragge Nicola, Sadikovic Bekim, Bogaert Elke, Vleminckx Kris, Naert Thomas, Syx Delfien, Callewaert Bert, Vergult Sarah

De Novo CUL3 Variant in a Child Presenting With Hypertension and Kidney Failure

一名患有高血压和肾衰竭的儿童携带新生CUL3变异

Peremans, Lieselot; Dendooven, Amélie; D'haenens, Erika; Symoens, Sofie; Callewaert, Bert; Decock, Laurenz; Vantomme, Lies; Vergult, Sarah; Dehoorne, Joke; Dossche, Lien; Prytula, Agnieszka; Raes, Ann; Renson, Thomas; Snauwaert, Evelien; Van Damme, Tim

RNA-sequencing unveils FLT4 splice site variants in variable congenital heart disease

RNA测序揭示了不同先天性心脏病中FLT4剪接位点变异

Verlee, Maxim; D'haenens, Erika; De Cock, Laurenz; Muiño Mosquera, Laura; De Groote, Katya; Vandekerckhove, Kristof; Panzer, Joseph; Roets, Ellen; Menten, Björn; Symoens, Sofie; Coucke, Paul; Van Damme, Tim; Vergult, Sarah; Callewaert, Bert

Correction: RNA-sequencing unveils FLT4 splice site variants in variable congenital heart disease

更正:RNA测序揭示了多种先天性心脏病中FLT4剪接位点变异

Verlee, Maxim; D'haenens, Erika; De Cock, Laurenz; Muiño Mosquera, Laura; De Groote, Katya; Vandekerckhove, Kristof; Panzer, Joseph; Roets, Ellen; Menten, Björn; Symoens, Sofie; Coucke, Paul; Van Damme, Tim; Vergult, Sarah; Callewaert, Bert

Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

多组学方法解析了北卡罗来纳州黄斑营养不良症(一种视网膜增强子病变)的顺式调控机制。

Van de Sompele, Stijn; Small, Kent W; Cicekdal, Munevver Burcu; Soriano, Víctor López; D'haene, Eva; Shaya, Fadi S; Agemy, Steven; Van der Snickt, Thijs; Rey, Alfredo Dueñas; Rosseel, Toon; Van Heetvelde, Mattias; Vergult, Sarah; Balikova, Irina; Bergen, Arthur A; Boon, Camiel J F; De Zaeytijd, Julie; Inglehearn, Chris F; Kousal, Bohdan; Leroy, Bart P; Rivolta, Carlo; Vaclavik, Veronika; van den Ende, Jenneke; van Schooneveld, Mary J; Gómez-Skarmeta, José Luis; Tena, Juan J; Martinez-Morales, Juan R; Liskova, Petra; Vleminckx, Kris; De Baere, Elfride

Interpreting the impact of noncoding structural variation in neurodevelopmental disorders

解读非编码结构变异对神经发育障碍的影响

D'haene, Eva; Vergult, Sarah

A neuronal enhancer network upstream of MEF2C is compromised in patients with Rett like characteristics

在具有雷特综合征样特征的患者中,MEF2C上游的神经元增强子网络受到损害。

D'haene, Eva; Bar-Yaacov, Reut; Bariah, Inbar; Vantomme, Lies; Van Loo, Sien; Cobos, Francisco Avila; Verboom, Karen; Eshel, Reut; Alatawna, Rawan; Menten, Björn; Birnbaum, Ramon Y; Vergult, Sarah

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

与人类先天性异常相关的平衡细胞遗传学异常的基因组图谱

Redin, Claire; Brand, Harrison; Collins, Ryan L; Kammin, Tammy; Mitchell, Elyse; Hodge, Jennelle C; Hanscom, Carrie; Pillalamarri, Vamsee; Seabra, Catarina M; Abbott, Mary-Alice; Abdul-Rahman, Omar A; Aberg, Erika; Adley, Rhett; Alcaraz-Estrada, Sofia L; Alkuraya, Fowzan S; An, Yu; Anderson, Mary-Anne; Antolik, Caroline; Anyane-Yeboa, Kwame; Atkin, Joan F; Bartell, Tina; Bernstein, Jonathan A; Beyer, Elizabeth; Blumenthal, Ian; Bongers, Ernie M H F; Brilstra, Eva H; Brown, Chester W; Brüggenwirth, Hennie T; Callewaert, Bert; Chiang, Colby; Corning, Ken; Cox, Helen; Cuppen, Edwin; Currall, Benjamin B; Cushing, Tom; David, Dezso; Deardorff, Matthew A; Dheedene, Annelies; D'Hooghe, Marc; de Vries, Bert B A; Earl, Dawn L; Ferguson, Heather L; Fisher, Heather; FitzPatrick, David R; Gerrol, Pamela; Giachino, Daniela; Glessner, Joseph T; Gliem, Troy; Grady, Margo; Graham, Brett H; Griffis, Cristin; Gripp, Karen W; Gropman, Andrea L; Hanson-Kahn, Andrea; Harris, David J; Hayden, Mark A; Hill, Rosamund; Hochstenbach, Ron; Hoffman, Jodi D; Hopkin, Robert J; Hubshman, Monika W; Innes, A Micheil; Irons, Mira; Irving, Melita; Jacobsen, Jessie C; Janssens, Sandra; Jewett, Tamison; Johnson, John P; Jongmans, Marjolijn C; Kahler, Stephen G; Koolen, David A; Korzelius, Jerome; Kroisel, Peter M; Lacassie, Yves; Lawless, William; Lemyre, Emmanuelle; Leppig, Kathleen; Levin, Alex V; Li, Haibo; Li, Hong; Liao, Eric C; Lim, Cynthia; Lose, Edward J; Lucente, Diane; Macera, Michael J; Manavalan, Poornima; Mandrile, Giorgia; Marcelis, Carlo L; Margolin, Lauren; Mason, Tamara; Masser-Frye, Diane; McClellan, Michael W; Mendoza, Cinthya J Zepeda; Menten, Björn; Middelkamp, Sjors; Mikami, Liya R; Moe, Emily; Mohammed, Shehla; Mononen, Tarja; Mortenson, Megan E; Moya, Graciela; Nieuwint, Aggie W; Ordulu, Zehra; Parkash, Sandhya; Pauker, Susan P; Pereira, Shahrin; Perrin, Danielle; Phelan, Katy; Aguilar, Raul E Piña; Poddighe, Pino J; Pregno, Giulia; Raskin, Salmo; Reis, Linda; Rhead, William; Rita, Debra; Renkens, Ivo; Roelens, Filip; Ruliera, Jayla; Rump, Patrick; Schilit, Samantha L P; Shaheen, Ranad; Sparkes, Rebecca; Spiegel, Erica; Stevens, Blair; Stone, Matthew R; Tagoe, Julia; Thakuria, Joseph V; van Bon, Bregje W; van de Kamp, Jiddeke; van Der Burgt, Ineke; van Essen, Ton; van Ravenswaaij-Arts, Conny M; van Roosmalen, Markus J; Vergult, Sarah; Volker-Touw, Catharina M L; Warburton, Dorothy P; Waterman, Matthew J; Wiley, Susan; Wilson, Anna; Yerena-de Vega, Maria de la Concepcion A; Zori, Roberto T; Levy, Brynn; Brunner, Han G; de Leeuw, Nicole; Kloosterman, Wigard P; Thorland, Erik C; Morton, Cynthia C; Gusella, James F; Talkowski, Michael E

Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination

由 RCBTB1 基因双等位基因突变引起的孤立性和综合征性视网膜营养不良,RCBTB1 基因与泛素化有关

Coppieters, Frauke; Ascari, Giulia; Dannhausen, Katharina; Nikopoulos, Konstantinos; Peelman, Frank; Karlstetter, Marcus; Xu, Mingchu; Brachet, Cécile; Meunier, Isabelle; Tsilimbaris, Miltiadis K; Tsika, Chrysanthi; Blazaki, Styliani V; Vergult, Sarah; Farinelli, Pietro; Van Laethem, Thalia; Bauwens, Miriam; De Bruyne, Marieke; Chen, Rui; Langmann, Thomas; Sui, Ruifang; Meire, Françoise; Rivolta, Carlo; Hamel, Christian P; Leroy, Bart P; De Baere, Elfride

Identification of long non-coding RNAs involved in neuronal development and intellectual disability

鉴定参与神经元发育和智力障碍的长链非编码RNA

D'haene, Eva; Jacobs, Eva Z; Volders, Pieter-Jan; De Meyer, Tim; Menten, Björn; Vergult, Sarah