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

Case report of paroxysmal dystonia in a child with KBG syndrome: Expansion of the phenotype and utility of whole exome sequencing

KBG综合征患儿阵发性肌张力障碍病例报告:表型扩展及全外显子组测序的应用

Dantam, Christina R; Wilkes, Elizabeth; Summers, Holly N; Morris, Colleen A; Ahad, Rooman F

Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams-Beuren Syndrome

基质组和免疫通路在威廉姆斯-博伊伦综合征中导致极端血管并发症

Liu, Delong; Billington, Charles J Jr; Raja, Neelam; Wong, Zoe C; Levin, Mark D; Resch, Wulfgang; Alba, Camille; Hupalo, Daniel N; Biamino, Elisa; Bedeschi, Maria Francesca; Digilio, Maria Cristina; Squeo, Gabriella Maria; Villa, Roberta; Parrish, Pheobe C R; Knutsen, Russell H; Osgood, Sharon; Freeman, Joy A; Dalgard, Clifton L; Merla, Giuseppe; Pober, Barbara R; Mervis, Carolyn B; Roberts, Amy E; Morris, Colleen A; Osborne, Lucy R; Kozel, Beth A

DNA methylation profiles in individuals with rare, atypical 7q11.23 CNVs correlate with GTF2I and GTF2IRD1 copy number

罕见、非典型 7q11.23 CNV 患者的 DNA 甲基化谱与 GTF2I 和 GTF2IRD1 拷贝数相关

Strong, Emma; Mervis, Carolyn B; Tam, Elaine; Morris, Colleen A; Klein-Tasman, Bonita P; Velleman, Shelley L; Osborne, Lucy R

Dorsal visual stream and LIMK1: hemideletion, haplotype, and enduring effects in children with Williams syndrome

背侧视觉通路和LIMK1:威廉姆斯综合征患儿的半缺失、单倍型及其持久影响

Kippenhan, J Shane; Gregory, Michael D; Nash, Tiffany; Kohn, Philip; Mervis, Carolyn B; Eisenberg, Daniel P; Garvey, Madeline H; Roe, Katherine; Morris, Colleen A; Kolachana, Bhaskar; Pani, Ariel M; Sorcher, Leah; Berman, Karen F

Rare and low frequency genomic variants impacting neuronal functions modify the Dup7q11.23 phenotype

影响神经元功能的罕见和低频基因组变异会改变 Dup7q11.23 表型

Qaiser, Farah; Yin, Yue; Mervis, Carolyn B; Morris, Colleen A; Klein-Tasman, Bonita P; Tam, Elaine; Osborne, Lucy R; Yuen, Ryan K C

Williams-Beuren syndrome in diverse populations

不同人群中的威廉姆斯-博伊伦综合征

Kruszka, Paul; Porras, Antonio R; de Souza, Deise Helena; Moresco, Angélica; Huckstadt, Victoria; Gill, Ashleigh D; Boyle, Alec P; Hu, Tommy; Addissie, Yonit A; Mok, Gary T K; Tekendo-Ngongang, Cedrik; Fieggen, Karen; Prijoles, Eloise J; Tanpaiboon, Pranoot; Honey, Engela; Luk, Ho-Ming; Lo, Ivan F M; Thong, Meow-Keong; Muthukumarasamy, Premala; Jones, Kelly L; Belhassan, Khadija; Ouldim, Karim; El Bouchikhi, Ihssane; Bouguenouch, Laila; Shukla, Anju; Girisha, Katta M; Sirisena, Nirmala D; Dissanayake, Vajira H W; Paththinige, C Sampath; Mishra, Rupesh; Kisling, Monisha S; Ferreira, Carlos R; de Herreros, María Beatriz; Lee, Ni-Chung; Jamuar, Saumya S; Lai, Angeline; Tan, Ee Shien; Ying Lim, Jiin; Wen-Min, Cham Breana; Gupta, Neerja; Lotz-Esquivel, Stephanie; Badilla-Porras, Ramsés; Hussen, Dalia Farouk; El Ruby, Mona O; Ashaat, Engy A; Patil, Siddaramappa J; Dowsett, Leah; Eaton, Alison; Innes, A Micheil; Shotelersuk, Vorasuk; Badoe, Ëben; Wonkam, Ambroise; Obregon, María Gabriela; Chung, Brian H Y; Trubnykova, Milana; La Serna, Jorge; Gallardo Jugo, Bertha Elena; Chávez Pastor, Miguel; Abarca Barriga, Hugo Hernán; Megarbane, Andre; Kozel, Beth A; van Haelst, Mieke M; Stevenson, Roger E; Summar, Marshall; Adeyemo, A Adebowale; Morris, Colleen A; Moretti-Ferreira, Danilo; Linguraru, Marius George; Muenke, Maximilian

Symmetrical Dose-Dependent DNA-Methylation Profiles in Children with Deletion or Duplication of 7q11.23

7q11.23缺失或重复患儿的对称剂量依赖性DNA甲基化谱

Strong, Emma; Butcher, Darci T; Singhania, Rajat; Mervis, Carolyn B; Morris, Colleen A; De Carvalho, Daniel; Weksberg, Rosanna; Osborne, Lucy R

Children with 7q11.23 duplication syndrome: psychological characteristics

7q11.23重复综合征患儿:心理特征

Mervis, Carolyn B; Klein-Tasman, Bonita P; Huffman, Myra J; Velleman, Shelley L; Pitts, C Holley; Henderson, Danielle R; Woodruff-Borden, Janet; Morris, Colleen A; Osborne, Lucy R

The Williams syndrome chromosome 7q11.23 hemideletion confers hypersocial, anxious personality coupled with altered insula structure and function

威廉姆斯综合征的7q11.23染色体半缺失会导致过度社交、焦虑的人格特征,并伴有岛叶结构和功能的改变。

Jabbi, Mbemba; Kippenhan, J Shane; Kohn, Philip; Marenco, Stefano; Mervis, Carolyn B; Morris, Colleen A; Meyer-Lindenberg, Andreas; Berman, Karen Faith

Longitudinal assessment of intellectual abilities of children with Williams syndrome: multilevel modeling of performance on the Kaufman Brief Intelligence Test-Second Edition

对威廉姆斯综合征患儿智力能力的纵向评估:考夫曼简明智力测验第二版表现的多水平模型

Mervis, Carolyn B; Kistler, Doris J; John, Angela E; Morris, Colleen A