日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
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

Phenotypic variability in female individuals with the NAA10 missense variants p.(L126R), p.(L126V), or p.(F128L) leading to NAA10-related syndrome

携带 NAA10 错义变异 p.(L126R)、p.(L126V) 或 p.(F128L) 的女性个体表现出表型变异,这些变异会导致 NAA10 相关综合征。

Bühler, Anja; Aigner-Radakovics, Katharina; Diofano, Federica; Marchi, Elaine; Weinmann-Emhardt, Karolina; Paquay, Amina; Lilja, Stephanie V; Rosensteiner, Bernhard; Harpell, Randie; Bernard, Ewelina; Just, Steffen; Bittner, Reginald E; Lyon, Gholson J; Kustermann, Monika

HYPK-Related Neurodevelopmental Syndrome: Case Report of Intellectual Disability, Developmental Delay, and Dysmorphic Features

HYPK相关神经发育综合征:智力障碍、发育迟缓和畸形特征病例报告

Patel, Rahi; Makwana, Rikhil; Marchi, Elaine; Fan, Ziyi; Falsey, Erin; Menendez, Beatriz; Giampietro, Philip; Wentzensen, Ingrid M; Hsieh, Tzung-Chien; Shan, Shu-Ou; Lyon, Gholson J

The Cardiovascular Manifestations and Management Recommendations for Ogden Syndrome

奥格登综合征的心血管表现及治疗建议

Makwana, Rikhil; Patel, Rahi; O'Neill, Rosemary; Marchi, Elaine; Lyon, Gholson J

DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders

DNA结合亲和力和特异性决定了BCL11B相关疾病的表型多样性

Lessel, Ivana; Baresic, Anja; Chinn, Ivan K; May, Jonathan; Goenka, Anu; Chandler, Kate E; Posey, Jennifer E; Afenjar, Alexandra; Averdunk, Luisa; Bedeschi, Maria Francesca; Besnard, Thomas; Brager, Rae; Brick, Lauren; Brugger, Melanie; Brunet, Theresa; Byrne, Susan; Calle-Martín, Oscar de la; Capra, Valeria; Cardenas, Paul; Chappé, Céline; Chong, Hey J; Cogne, Benjamin; Conboy, Erin; Cope, Heidi; Courtin, Thomas; Deb, Wallid; Dilena, Robertino; Dubourg, Christèle; Elgizouli, Magdeldin; Fernandes, Erica; Fitzgerald, Kristi K; Gangi, Silvana; George-Abraham, Jaya K; Gucsavas-Calikoglu, Muge; Haack, Tobias B; Hadonou, Medard; Hanker, Britta; Hüning, Irina; Iascone, Maria; Isidor, Bertrand; Järvelä, Irma; Jin, Jay J; Jorge, Alexander A L; Josifova, Dragana; Kalinauskiene, Ruta; Kamsteeg, Erik-Jan; Keren, Boris; Kessler, Elena; Kölbel, Heike; Kozenko, Mariya; Kubisch, Christian; Kuechler, Alma; Leal, Suzanne M; Leppälä, Juha; Luu, Sharon M; Lyon, Gholson J; Madan-Khetarpal, Suneeta; Mancardi, Margherita; Marchi, Elaine; Mehta, Lakshmi; Menendez, Beatriz; Morel, Chantal F; Harasink, Sue Moyer; Nevay, Dayna-Lynn; Nigro, Vincenzo; Odent, Sylvie; Oegema, Renske; Pappas, John; Pastore, Matthew T; Perilla-Young, Yezmin; Platzer, Konrad; Powell-Hamilton, Nina; Rabin, Rachel; Rekab, Aisha; Rezende, Raissa C; Robert, Leema; Romano, Ferruccio; Scala, Marcello; Poths, Karin; Schrauwen, Isabelle; Sebastian, Jessica; Short, John; Sidlow, Richard; Sullivan, Jennifer; Szakszon, Katalin; Tan, Queenie K G; Wagner, Matias; Wieczorek, Dagmar; Yuan, Bo; Maeding, Nicole; Strunk, Dirk; Begtrup, Amber; Banka, Siddharth; Lupski, James R; Tolosa, Eva; Lessel, Davor

Transgenerational Effects and Heritability of Folate Receptor Alpha Autoantibodies in Autism Spectrum Disorder

自闭症谱系障碍中叶酸受体α自身抗体的跨代效应和遗传性

Frye, Richard E; Cohen, Ira L; Sequeira, Jeffrey M; Hill, Zoe; Espinoza, Alina; Brown, W Ted; Mevs, Clifford; Marchi, Elaine; Flory, Michael; Jenkins, Edmund C; Velinov, Milen T; Quadros, Edward V

Neuroanatomical features of NAA10 and NAA15-related neurodevelopmental syndromes

NAA10 和 NAA15 相关神经发育综合征的神经解剖学特征

Patel, Rahi; Makwana, Rikhil; Christ, Carolina; Marchi, Elaine; Miyake, Christina Y; Goncalves, Fabricio Guimaraes; Lyon, Gholson J; Whitehead, Matthew T

Novel Copy Number Deletion Involving NUS1 Associated With Epilepsy, Tremor, and Intellectual Disability

一种涉及NUS1的新型拷贝数缺失与癫痫、震颤和智力障碍相关

Hsu, Jing Y; Ibrahim, Daniah H; Ali, Riza; Marchi, Elaine; Gavin, Maureen; Amble, Karen; Lyon, Gholson J

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

Longitudinal adaptive behavioral outcomes in Ogden syndrome by seizure status and therapeutic intervention

根据癫痫发作情况和治疗干预情况分析奥格登综合征的纵向适应性行为结果

Makwana, Rikhil; Christ, Carolina; Marchi, Elaine; Harpell, Randie; Lyon, Gholson J