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

Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype.

黏连蛋白装载亚基 MAU2 的致病变异是 Cornelia de Lange 综合征的一个独特亚型的根本原因。

Parenti Ilaria, Hesters Alina, Gil-Salvador Marta, Duffy Laura, Kanber Deniz, Beygo Jasmin, Kerkhof Jennifer, Steenpaß Laura, Leitão Elsa, Woestefeld Julia, Boone Philip M, Kao Emeline M, Alabdi Lama, Aldhalaan Hesham M, Alkuraya Fowzan S, Alshammari Muneera J, Antonarakis Stylianos E, Basel Donald, Cassinari Kevin, de Polli Cellin Laurana, Clause Amanda R, de Lima Jorge Alexander Augusto, de Castro Leal Andréa, Collins Stephan C, Durand Benjamin, Eckhold Juliane, Hashem Mais O, Jayakar Parul, Khan Arif O, Kato Kohji, Kubica Regina, Lyon Gholson J, Marchi Elaine, McCarrier Julie, Kimmig Lara K, Mizuno Seiji, Nicolas Gael, Nishio Yosuke, Ogi Tomoo, Pié Juan, Prell Jordyn, Puisac Beatriz, Ramos Feliciano J, Ranza Emmanuelle, Redin Claire, Rush Eric, Saitoh Shinji, Shamseldin Hanan E, Starling Susan, Astiazaran-Symonds Esteban, Eltahir Sara H, Kuechler Alma, Sadikovic Bekim, Yalcin Binnaz, Wendt Kerstin S, Kaiser Frank J

Proceedings of the 12(th) International Meeting on Neuroacanthocytosis, Cohen Syndrome, and Other VPS13-Related Disorders

第十二届神经棘红细胞增多症、科恩综合征及其他VPS13相关疾病国际会议论文集

Vacca, Fabrizio; Yalcin, Binnaz; Kaestner, Lars; Danek, Adrian; Peikert, Kevin; Walker, Ruth H; Ansar, Muhammad

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.

SMARCA1 中的致病变异会导致 X 连锁神经发育障碍,该障碍受 NURF 复合物组成调节。

Mirzaa Ghayda M, Yan Keqin, Relator Raissa, Levesque Mathieu, Jayasinghe Pranisha, Timpano Sara, Yalcin Binnaz, Collins Stephan, Ziegler Alban, Pao Emily, Oyama Nora, Brischoux-Boucher Elise, Piard Juliette, Monaghan Kristin G, Guillen Sacoto Maria J, Dobyns William B, Park Kristen L, Fernández-Mayoralas Daniel Martin, Fernández-Jaén Alberto, Jayakar Parul, Palomares-Bralo María, Santos-Simarro Fernando, Brusco Alfredo, Antona Vincenzo, Giorgio Elisa, Kvarnung Malin, Isidor Bertrand, Conrad Solène, Cogné Benjamin, Deb Wallid, Stuurman Kyra E, Štěrbová Katalin, Smal Noor, Weckhuysen Sarah, Oegema Renske, Innes A Micheil, Koboldt Daniel C, Ben-Omran Tawfeg, Yeh Rebecca C, Kruer Michael C, Bakhtiari Somayeh, Papavasiliou Antigone, Moutton Sébastien, Nambot Sophie, Chanprasert Sirisak, Paolucci Sarah A, Miller Kait, Burton Barbara, Kim Katherine, O'Heir Emily, Bruwer Zandre, Donald Kirsten A, Kleefstra Tjitske, Goldstein Amy, Angle Brad, Bontempo Kelly, Miny Peter, Joset Pascal, Demurger Florence, Hobson Emma, Pang Lewis, Carpenter Lori, Li Dong, Bonneau Dominique, Sadikovic Bekim, Picketts David J

Bi-allelic deleterious variants in SNAPIN, which encodes a retrograde dynein adaptor, cause a prenatal-onset neurodevelopmental disorder.

SNAPIN 基因编码逆行动力蛋白衔接蛋白,其双等位基因有害变异会导致产前发病的神经发育障碍。

Yousaf Hammad, de Koning Maayke A, Khan Kamal, Gilmore Kelly L, Hoffer Mariëtte J V, Kellaris Georgios, Lanone Sophie, Dagouassat Maylis, Ullah Farid, Adama van Scheltema Phebe N, Heron Delphine, Capri Yline, Kuechler Alma, Schweiger Bernd, Haak Monique C, Keren Boris, Tran Mau Them Frederic, Peeters-Scholte Cacha M P C D, Kaiser Frank J, Koopmann Tamara T, Mei Hailiang, Yalcin Binnaz, Depienne Christel, Vora Neeta L, Santen Gijs W E, Davis Erica E

Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype

黏连蛋白装载亚基 MAU2 的致病性变异导致一种新的科内莉亚·德·兰格综合征亚型

Parenti, Ilaria; Hesters, Alina; Gil-Salvador, Marta; Duffy, Laura; Kanber, Deniz; Beygo, Jasmin; Kerkhof, Jennifer; Steenpaß, Laura; Leitão, Elsa; Woestefeld, Julia; Boone, Philip M; Kao, Emeline M; Alabdi, Lama; Aldhalaan, Hesham M; Alkuraya, Fowzan S; Alshammari, Muneera J; Antonarakis, Stylianos E; Basel, Donald; Cassinari, Kevin; de Polli Cellin, Laurana; Clause, Amanda R; de Lima Jorge, Alexander Augusto; de Castro Leal, Andréa; Collins, Stephan C; Durand, Benjamin; Eckhold, Juliane; Hashem, Mais O; Jayakar, Parul; Khan, Arif O; Kato, Kohji; Kubica, Regina; Lyon, Gholson J; Marchi, Elaine; McCarrier, Julie; Kimmig, Lara K; Mizuno, Seiji; Nicolas, Gael; Nishio, Yosuke; Ogi, Tomoo; Pié, Juan; Prell, Jordyn; Puisac, Beatriz; Ramos, Feliciano J; Ranza, Emmanuelle; Redin, Claire; Rush, Eric; Saitoh, Shinji; Shamseldin, Hanan E; Starling, Susan; Astiazaran-Symonds, Esteban; Taher, Sara; Kuechler, Alma; Sadikovic, Bekim; Yalcin, Binnaz; Wendt, Kerstin S; Kaiser, Frank J

ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations

ZSCAN10 缺陷会导致一种神经发育障碍,其特征是耳面部畸形。

Laugwitz, Lucia; Cheng, Fubo; Collins, Stephan C; Hustinx, Alexander; Navarro, Nicolas; Welsch, Simon; Cox, Helen; Hsieh, Tzung-Chien; Vijayananth, Aswinkumar; Buchert, Rebecca; Bender, Benjamin; Efthymiou, Stephanie; Murphy, David; Zafar, Faisal; Rana, Nuzhat; Grasshoff, Ute; Falb, Ruth J; Grimmel, Mona; Seibt, Annette; Zheng, Wenxu; Ghaedi, Hamid; Thirion, Marie; Couette, Sébastien; Azizimalamiri, Reza; Sadeghian, Saeid; Galehdari, Hamid; Zamani, Mina; Zeighami, Jawaher; Sedaghat, Alireza; Ramshe, Samira Molaei; Zare, Ali; Alipoor, Behnam; Klee, Dirk; Sturm, Marc; Ossowski, Stephan; Houlden, Henry; Riess, Olaf; Wieczorek, Dagmar; Gavin, Ryan; Maroofian, Reza; Krawitz, Peter; Yalcin, Binnaz; Distelmaier, Felix; Haack, Tobias B

De Novo Variants Found in Three Distinct Schizophrenia Populations Hit a Common Core Gene Network Related to Microtubule and Actin Cytoskeleton Gene Ontology Classes

在三个不同的精神分裂症人群中发现的新生变异体,均与微管和肌动蛋白细胞骨架基因本体论类别相关的共同核心基因网络有关。

Loe-Mie, Yann; Plançon, Christine; Dubertret, Caroline; Yoshikawa, Takeo; Yalcin, Binnaz; Collins, Stephan C; Boland, Anne; Deleuze, Jean-François; Gorwood, Philip; Benmessaoud, Dalila; Simonneau, Michel; Lepagnol-Bestel, Aude-Marie

Exploring the pathological mechanisms underlying Cohen syndrome

探索科恩综合征的病理机制

Vacca, Fabrizio; Yalcin, Binnaz; Ansar, Muhammad

A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation

一项针对拉丁美洲人的全基因组关联研究(GWAS)发现了新的面部形状基因位点,表明VPS13B基因和一个丹尼索瓦人基因渗入区域与面部变异有关。

Bonfante, Betty; Faux, Pierre; Navarro, Nicolas; Mendoza-Revilla, Javier; Dubied, Morgane; Montillot, Charlotte; Wentworth, Emma; Poloni, Lauriane; Varón-González, Ceferino; Jones, Philip; Xiong, Ziyi; Fuentes-Guajardo, Macarena; Palmal, Sagnik; Chacón-Duque, Juan Camilo; Hurtado, Malena; Villegas, Valeria; Granja, Vanessa; Jaramillo, Claudia; Arias, William; Barquera, Rodrigo; Everardo-Martínez, Paola; Sánchez-Quinto, Mirsha; Gómez-Valdés, Jorge; Villamil-Ramírez, Hugo; Silva de Cerqueira, Caio C; Hünemeier, Tábita; Ramallo, Virginia; Liu, Fan; Weinberg, Seth M; Shaffer, John R; Stergiakouli, Evie; Howe, Laurence J; Hysi, Pirro G; Spector, Timothy D; Gonzalez-José, Rolando; Schüler-Faccini, Lavinia; Bortolini, Maria-Cátira; Acuña-Alonzo, Victor; Canizales-Quinteros, Samuel; Gallo, Carla; Poletti, Giovanni; Bedoya, Gabriel; Rothhammer, Francisco; Thauvin-Robinet, Christel; Faivre, Laurence; Costedoat, Caroline; Balding, David; Cox, Timothy; Kayser, Manfred; Duplomb, Laurence; Yalcin, Binnaz; Cotney, Justin; Adhikari, Kaustubh; Ruiz-Linares, Andrés

Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects

KDM4B基因杂合变异导致全面发育迟缓和神经解剖缺陷

Duncan, Anna R; Vitobello, Antonio; Collins, Stephan C; Vancollie, Valerie E; Lelliott, Christopher J; Rodan, Lance; Shi, Jiahai; Seman, Ann R; Agolini, Emanuele; Novelli, Antonio; Prontera, Paolo; Guillen Sacoto, Maria J; Santiago-Sim, Teresa; Trimouille, Aurélien; Goizet, Cyril; Nizon, Mathilde; Bruel, Ange-Line; Philippe, Christophe; Grant, Patricia E; Wojcik, Monica H; Stoler, Joan; Genetti, Casie A; van Dooren, Marieke F; Maas, Saskia M; Alders, Marielle; Faivre, Laurence; Sorlin, Arthur; Yoon, Grace; Yalcin, Binnaz; Agrawal, Pankaj B