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

Rare heterozygous de novo variants in RAPGEF2 are associated with a neurodevelopmental disorder

RAPGEF2基因中罕见的杂合新生变异与神经发育障碍相关。

Bereshneh, Ali H; Wilson, Kirkland A; Pan, Xueyang; Hannan, Shabab B; Cooper, Megan A; Diaz, Jullianne; Leon, Eyby; Moses, Tiana M; Azamian, Mahshid S; Scott, Daryl A; Billie Au, Ping Yee; Appendino, Juan Pablo; Scheffer, Ingrid E; Kaspi, Antony; Bahlo, Melanie; Hildebrand, Michael S; Morgan, Angela T; Ekure, Ekanem; Shulman, Joshua M; Hildebrandt, Friedhelm; Posey, Jennifer E; Kruszka, Paul; Vilain, Eric; Yamamoto, Shinya; Kanca, Oguz; Berger, Seth; Bellen, Hugo J

Rare Variant in MRC2 Associated With Familial Supraventricular Tachycardia and Wolff-Parkinson-White Syndrome

MRC2基因罕见变异与家族性室上性心动过速和沃尔夫-帕金森-怀特综合征相关

Potter, Adam S; Miyake, Christina Y; Gonzaga-Jauregui, Claudia; Aguilar-Sanchez, Yuriana; Hulsurkar, Mohit M; Lahiri, Satadru K; Moreira, Lucia M; Mehta, Neelam; Azamian, Mahshid S; Lupski, James R; Reilly, Svetlana; Lalani, Seema R; Wehrens, Xander H T

Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients

TANGO2 缺乏症的自然病程:73 例患者的基线评估

Miyake, Christina Y; Lay, Erica J; Soler-Alfonso, Claudia; Glinton, Kevin E; Houck, Kimberly M; Tosur, Mustafa; Moran, Nancy E; Stephens, Sara B; Scaglia, Fernando; Howard, Taylor S; Kim, Jeffrey J; Pham, Tam Dam; Valdes, Santiago O; Li, Na; Murali, Chaya N; Zhang, Lilei; Kava, Maina; Yim, Deane; Beach, Cheyenne; Webster, Gregory; Liberman, Leonardo; Janson, Christopher M; Kannankeril, Prince J; Baxter, Samantha; Singer-Berk, Moriel; Wood, Jordan; Mackenzie, Samuel J; Sacher, Michael; Ghaloul-Gonzalez, Lina; Pedroza, Claudia; Morris, Shaine A; Ehsan, Saad A; Azamian, Mahshid S; Lalani, Seema R

A Multicenter Analysis of Abnormal Chromosomal Microarray Findings in Congenital Heart Disease

先天性心脏病异常染色体微阵列结果的多中心分析

Landis, Benjamin J; Helvaty, Lindsey R; Geddes, Gabrielle C; Lin, Jiuann-Huey Ivy; Yatsenko, Svetlana A; Lo, Cecilia W; Border, William L; Wechsler, Stephanie Burns; Murali, Chaya N; Azamian, Mahshid S; Lalani, Seema R; Hinton, Robert B; Garg, Vidu; McBride, Kim L; Hodge, Jennelle C; Ware, Stephanie M

Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay.

IKZF2 中的显性负性变异会导致 ICHAD 综合征,这是一种以免疫失调、颅面畸形、听力障碍、无肌张力和发育迟缓为特征的新疾病

Mohajeri Arezoo, Vaseghi-Shanjani Maryam, Rosenfeld Jill A, Yang Gui Xiang, Lu Henry, Sharma Mehul, Lin Susan, Salman Areesha, Waqas Meriam, Sababi Azamian Mahshid, Worley Kim C, Del Bel Kate L, Kozak Frederick K, Rahmanian Ronak, Biggs Catherine M, Hildebrand Kyla J, Lalani Seema R, Nicholas Sarah K, Scott Daryl A, Mostafavi Sara, van Karnebeek Clara, Henkelman Erika, Halparin Jessica, Yang Connie L, Armstrong Linlea, Turvey Stuart E, Lehman Anna

Cardiac crises: Cardiac arrhythmias and cardiomyopathy during TANGO2 deficiency related metabolic crises

心脏危象:TANGO2 缺乏相关代谢危象期间的心律失常和心肌病

Miyake, Christina Y; Lay, Erica J; Beach, Cheyenne M; Ceresnak, Scott R; Delauz, Caridad M; Howard, Taylor S; Janson, Christopher M; Jardine, Kate; Kannankeril, Prince J; Kava, Maina; Kim, Jeffrey J; Liberman, Leonardo; Macicek, Scott L; Pham, Tam Dam; Robertson, Terry; Valdes, Santiago O; Webster, Gregory; Stephens, Sara B; Milewicz, Diana M; Azamian, Mahshid; Ehsan, Saad A; Houck, Kimberly M; Soler-Alfonso, Claudia; Glinton, Kevin E; Tosur, Mustafa; Li, Na; Xu, Weiyi; Lalani, Seema R; Zhang, Lilei

Quality of life, illness perceptions, and parental lived experiences in TANGO2-related metabolic encephalopathy and arrhythmias

TANGO2相关代谢性脑病和心律失常患者的生活质量、疾病认知和父母生活经历

Murali, Chaya N; Lalani, Seema R; Azamian, Mahshid S; Miyake, Christina Y; Smith, Hadley Stevens

Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency

阐明一种与PAX5单倍体不足相关的新型神经发育综合征

Gofin, Yoel; Wang, Tianyun; Gillentine, Madelyn A; Scott, Tiana M; Berry, Aliska M; Azamian, Mahshid S; Genetti, Casie; Agrawal, Pankaj B; Picker, Jonathan; Wojcik, Monica H; Delgado, Mauricio R; Lynch, Sally A; Scherer, Stephen W; Howe, Jennifer L; Bacino, Carlos A; DiTroia, Stephanie; VanNoy, Grace E; O'Donnell-Luria, Anne; Lalani, Seema R; Graf, William D; Rosenfeld, Jill A; Eichler, Evan E; Earl, Rachel K; Scott, Daryl A

Mitochondrial DNA maintenance defects: potential therapeutic strategies

线粒体DNA维持缺陷:潜在的治疗策略

Almannai, Mohammed; El-Hattab, Ayman W; Azamian, Mahshid S; Ali, May; Scaglia, Fernando

Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain

大脑中主要 CDKL5 转录本特有的晚期截断突变个体表现出广泛的表型严重程度。

Keehan, Laura; Haviland, Isabel; Gofin, Yoel; Swanson, Lindsay C; El Achkar, Christelle Moufawad; Schreiber, John; VanNoy, Grace E; O'Heir, Emily; O'Donnell-Luria, Anne; Lewis, Richard Alan; Magoulas, Pilar; Tran, Alyssa; Azamian, Mahshid S; Chao, Hsiao-Tuan; Pham, Lisa; Samaco, Rodney C; Elsea, Sarah; Thorpe, Erin; Kesari, Akanchha; Perry, Denise; Lee, Brendan; Lalani, Seema R; Rosenfeld, Jill A; Olson, Heather E; Burrage, Lindsay C