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

Predicting epistasis across proteins by structural logic

利用结构逻辑预测蛋白质间的上位性

Tang, Michelle; Cromie, Gareth A; Kabir, Anowarul; Timour, Martin S; Ashmead, Julee; Lo, Russell S; Corley, Nathaniel; DiMaio, Frank; Morizono, Hiroki; Caldovic, Ljubica; Ah Mew, Nicholas; Gropman, Andrea; Shehu, Amarda; Dudley, Aimée M

Clinical and Genetic Characteristics of Free Sialic Acid Storage Disorder

游离唾液酸贮积症的临床和遗传特征

Wolfenson, Zoe; Grois, Gabriella; Hailemeskel, Ruth F; Sabaii, Marla; Huryn, Laryssa A; Zein, Wadih M; Lehky, Tanya; Thurm, Audrey; Joseph, Lisa; Baker, Eva H; Vezina, Gilbert; Hyland, Keith; Pollard, Laura; Macnamara, Ellen; Gropman, Andrea; Malicdan, May C; Gahl, William A; Adams, David R; Wolfe, Lynne

Exon-skipping due to bi-allelic splice site mutations in the neurodevelopmental disease gene LNPK

神经发育疾病基因LNPK中双等位基因剪接位点突变导致的外显子跳跃

Doss, Rose M; Wirth, Sara A; Pitsch, Jonathan W; Dias, Caroline M; Gropman, Andrea L; Breuss, Martin W

Emerging neurological and cognitive symptoms in patients with late-onset ornithine transcarbamylase deficiency: a narrative review

晚发性鸟氨酸转氨甲酰酶缺乏症患者新出现的神经系统和认知症状:一篇叙述性综述

Konczal, Laura; Enns, Gregory M; Gropman, Andrea L; Garcia, Daniel; Merritt Ii, J Lawrence; Wilkening, Greta

The Role of Genetic Testing in Pediatric Expressive Language Delay: Evidence from the National Brain Gene Registry

基因检测在儿童表达性语言发育迟缓中的作用:来自国家脑基因登记处的证据

Waghmare, Shivani; Taylor, Alexa M; Bouska, Cecilia; Moreno Chaza, Ana; Gropman, Andrea

Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional Survey

线粒体疾病患者死亡相关因素的特征分析:一项多中心横断面调查

Ivaniuk, Alina; Anselm, Irina A; Bowen, Aaron; Cohen, Bruce H; Eminoglu, Fatma Tuba; Estrella, Jane; Gallagher, Renata C; Ganetzky, Rebecca D; Gannon, Jennifer; Gorman, Grainne S; Greene, Carol; Gropman, Andrea L; Haas, Richard H; Hirano, Michio; Kapoor, Seema; Karaa, Amel; Koenig, Mary Kay; Kornblum, Cornelia; Kose, Engin; Larson, Austin; Lichter-Konecki, Uta; Lopriore, Piervito; Mancuso, Michelangelo; McFarland, Robert; Moe, Aye Myat; Morava, Eva; Ng, Yi Shiau; Saneto, Russell P; Scaglia, Fernando; Sue, Carolyn M; Tarnopolsky, Mark; Walker, Melissa A; Parikh, Sumit; Cheuk-Wing, Fung; Wong, Tsz-Sum; Belaramani, Kiran; Chan, Chun-Kong; Chan, Wing-Ki; Chan, Wai-Lun Larry; Cheung, Hon-Wing; Cheung, Ka-Yin; Chang, Shek-Kwan; Cheung, Sing-Ngai; Cheung, Tsz-Fung; Cheung, Yuk-Fai; Chong, Shuk-Ching Josephine; Chow, Chi-Kwan Jasmine; Chung, Hon-Yin B; Fan, Sin-Ying Florence; Fok, Wai-Ming Joshua; Fong, Ka-Wing; Fung, Tsui-Hang Sharon; Hui, Kwok-Fai; Hui, Ting-Hin; Hui, Joannie; Ko, Chun Hung; Kwan, Min-Chung; Kwok, Mei-Kwan Anne; Kwok, Sung-Shing Jeffrey; Lai, Moon-Sing; Lam, Yau-On; Lam, Ching-Wan; Lau, Ming-Chung; Law, Chun-Yiu Eric; Law, Hiu-Fung; Lee, Wing-Cheong; Hencher Lee, Han-Chih; Leung, Kin-Hang; Leung, Kit-Yan; Li, Siu-Hung; Ling, Tsz-Ki Jacky; Liu, Kam-Tim Timothy; Lo, Fai-Man; Lui, Colin; Luk, Ching-On; Luk, Ho-Ming; Ma, Che-Kwan; Ma, Karen; Ma, Kam-Hung; Mew, Yuen-Ni; Mo, Alex; Hg, Sui-Fun; Poon, Wing-Kit Grace; Sheng, Bun; Szeto, Cheuk-Ling Charing; Tai, Shuk-Mui; Tang, Jing-Liang; Tse, Choi-Ting Alan; Tsung, Li-Yan Lilian; Wong, Ho-Ming June; Wong, Wing-Yin Winnie; Wong, Kwok-Kui; Wong, Suet-Na Sheila; Wong, Chun-Nei Virginia; Wong, Wai-Shan Sammy; Wong, Chi-Kin Felix; Wu, Shun-Ping; Wu, Hiu-Fung Jerome; Yau, Man-Mut; Yau, Kin-Cheong Eric; Yeung, Wai-Lan; Yeung, Hon-Ming Jonas; Yip, Kin-Keung Edwin; Wu, Hui-Jun; Young, Pui-Hong Terence; Yuan, Gao; Yuen, Yuet-Ping Liz; Yuen, Chi-Lap

Incidence of miscarriages in women with children with 47,XXY, 48,XXXY, or 49,XXXXY

患有 47,XXY、48,XXXY 或 49,XXXXY 染色体异常的女性流产的发生率

Moser, Elizabeth; Olaya, Margaret; Gropman, Andrea; Sadeghin, Teresa; Samango-Sprouse, Carole

Case Report: An exploration of the neurodevelopmental phenotype of five patients with 48,XXYY during early childhood years

病例报告:对五名患有 48,XXYY 染色体异常的患者在幼儿期的神经发育表型进行探索

Olaya, Margaret; Samango-Sprouse, Carole; Counts, Debra; Kline, Antonie D; Mitchell, Francie; Buscema, Elizabeth; Tipton, Elizabeth; Sadeghin, Teresa; Gropman, Andrea L

SYNGAP1 Syndrome and the Brain Gene Registry

SYNGAP1综合征与脑基因登记处

Greco, Melissa R; Chatterjee, Maya; Taylor, Alexa M; Gropman, Andrea L

Systematic phenotype and genotype characterization of Moebius syndrome

莫比乌斯综合征的系统性表型和基因型特征分析

Webb, Bryn D; Jurgens, Julie A; Narisu, Narisu; Zhang, Zhongyang; Barry, Brenda J; Van Ryzin, Carol; Bonnycastle, Lori L; Chan, Wai-Man; Yan, Tingfen; Di Gioia, Silvio Alessandro; Swift, Amy J; MacKinnon, Sarah E; Oystreck, Darren T; Rucker, Janet C; Frempong, Tamiesha; Whitman, Mary C; FitzGibbon, Edmond J; Lee, Janice S; Hao, Ke; Andrews, Caroline; Erazo, Monica; Facio, Flavia M; Shaaban, Sherin; Naidich, Thomas P; Chines, Peter S; Lehky, Tanya J; Toro, Camilo; Gropman, Andrea L; Butman, John A; Zalewski, Christopher K; Brewer, Carmen C; Thurm, Audrey; Snow, Joseph; Paul, Scott M; Brooks, Brian P; Pierpaoli, Carlo; Robson, Caroline D; Hunter, David G; Collins, Francis S; Jabs, Ethylin Wang; Engle, Elizabeth C; Manoli, Irini