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

Deletion size and background genetic variation shape congenital heart disease phenotypes in 3,016 individuals with 22q11.2 deletion syndrome

22q11.2缺失综合征患者的缺失大小和背景遗传变异影响先天性心脏病表型,共纳入3016例患者。

Lin, Jhih-Rong; Miller, Daniella; Luong, Dana; Nelson, Tanner; Crowley, T Blaine; Tran, Oanh T; Thiruvahindrapuram, Bhooma; Hajianpour, Amirhossein; Campbell, Linda; Busa, Tiffany; Heine-Suñer, Damian; García-Miñaúr, Sixto; Fernández, Luis; Murphy, Kieran C; Murphy, Declan; Hawula, Wanda; Angkustsiri, Kathleen; Shashi, Vandana; Schoch, Kelly; Bearden, Carrie E; Tomita Mitchell, Aoy; Mitchell, Michael E; Carmel, Miri; Weizman, Abraham; Michaelovsky, Elena; Gothelf, Doron; van den Bree, Marianne B M; Owen, Michael J; Vorstman, Jacob A S; Boot, Erik; Vingerhoets, Claudia; van Amelsvoort, Therese; Swillen, Ann; Breckpot, Jeroen; Vermeesch, Joris R; Devriendt, Koen; Schneider, Maude; Eliez, Stephan; Digilio, M Cristina; Unolt, Marta; Putotto, Carolina; Marino, Bruno; Pontillo, Maria; Armando, Marco; Vicari, Stefano; Repetto, Gabriela M; Kates, Wendy R; Shprintzen, Robert J; Gur, Raquel E; Zackai, Elaine H; Goldmuntz, Elizabeth; Wang, Tao; Raj, Srilakshmi; Emanuel, Beverly S; McDonald-McGinn, Donna M; Scherer, Stephen C; Bassett, Anne S; Zhang, Zhengdong D; Morrow, Bernice E

A longitudinal evaluation of gastrointestinal symptoms in children with autism spectrum disorder

对自闭症谱系障碍儿童胃肠道症状的纵向评估

Restrepo, Bibiana; Taylor, Sandra L; Dominic Ponzini, Matthew; Angkustsiri, Kathleen; Solomon, Marjorie; Rogers, Sally J; Ashwood, Paul; Say, Daphne S; Caceres, Sonny; Alavynejad, Shayan; Heath, Brianna; Amaral, David G; Wu Nordahl, Christine

Untargeted metabolomic, and proteomic analysis identifies metabolic biomarkers and pathway alterations in individuals with 22q11.2 deletion syndrome

非靶向代谢组学和蛋白质组学分析可识别 22q11.2 缺失综合征患者的代谢生物标志物和通路改变

Marwa Zafarullah, Kathleen Angkustsiri, Austin Quach, Seungjun Yeo, Blythe P Durbin-Johnson, Heather Bowling, Flora Tassone

Source-based morphometry reveals structural brain pattern abnormalities in 22q11.2 deletion syndrome

基于源形态测量法揭示22q11.2缺失综合征患者的脑结构模式异常

Ge, Ruiyang; Ching, Christopher R K; Bassett, Anne S; Kushan, Leila; Antshel, Kevin M; van Amelsvoort, Therese; Bakker, Geor; Butcher, Nancy J; Campbell, Linda E; Chow, Eva W C; Craig, Michael; Crossley, Nicolas A; Cunningham, Adam; Daly, Eileen; Doherty, Joanne L; Durdle, Courtney A; Emanuel, Beverly S; Fiksinski, Ania; Forsyth, Jennifer K; Fremont, Wanda; Goodrich-Hunsaker, Naomi J; Gudbrandsen, Maria; Gur, Raquel E; Jalbrzikowski, Maria; Kates, Wendy R; Lin, Amy; Linden, David E J; McCabe, Kathryn L; McDonald-McGinn, Donna; Moss, Hayley; Murphy, Declan G; Murphy, Kieran C; Owen, Michael J; Villalon-Reina, Julio E; Repetto, Gabriela M; Roalf, David R; Ruparel, Kosha; Schmitt, J Eric; Schuite-Koops, Sanne; Angkustsiri, Kathleen; Sun, Daqiang; Vajdi, Ariana; van den Bree, Marianne; Vorstman, Jacob; Thompson, Paul M; Vila-Rodriguez, Fidel; Bearden, Carrie E

Association of Breastfeeding Duration with Neurodevelopmental Outcomes in an Enriched Familial Likelihood Cohort for Autism Spectrum Disorder

母乳喂养持续时间与自闭症谱系障碍家族风险增强队列中神经发育结果的关联

Punatar, Ruchi; Angkustsiri, Kathleen; Kair, Laura R; Tancredi, Daniel J; Harvey, Danielle J; Schmidt, Rebecca J

The Importance of Understanding Individual Differences of Emotion Regulation Abilities in 22q11.2 Deletion Syndrome

理解22q11.2缺失综合征患者情绪调节能力个体差异的重要性

Campbell, L E; Swaab, L; Freeman, E E; McCormack, L; Simon, T J; Angkustsiri, K; McCabe, K L

Comparison of Attention-Deficit Hyperactivity Disorder in Typically Developing Children and Children with Down Syndrome

比较正常发育儿童和唐氏综合征儿童的注意力缺陷多动障碍

Esbensen, Anna J; Epstein, Jeffery N; Vincent, Lori B; Kamimura-Nishimura, Kelly; Wiley, Susan; Angkustsiri, Kathleen; Abbeduto, Leonard; Fidler, Deborah; Froehlich, Tanya E

Pilot Study of Maternal Autoantibody-Related Autism

母体自身抗体相关自闭症的初步研究

Angkustsiri, Kathleen; Fussell, Jill J; Bennett, Amanda; Schauer, Joseph; Ramirez-Celis, Alexandra; Hansen, Robin L; Van de Water, Judy

Co-occurring medical and behavioural conditions in children with Down syndrome with or without ADHD symptom presentation

唐氏综合征患儿(伴或不伴多动症症状)合并的医学和行为问题

Esbensen, A J; Vincent, L B; Epstein, J N; Kamimura-Nishimura, K; Wiley, S; Angkustsiri, K; Abbeduto, L; Fidler, D; Anixt, J S; Froehlich, T E

Atypical attentional filtering of visual information in youth with chromosome 22q11.2 deletion syndrome as indexed by event-related potentials

事件相关电位指标显示,患有 22q11.2 染色体缺失综合征的青少年存在非典型视觉信息注意力过滤

Linton, S R; Popa, A M; Luck, S J; Bolden, K; Angkustsiri, K; Carter, C S; Niendam, T A; Simon, T J