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

Prenatally Diagnosed Beare-Stevenson Cutis Gyrata Syndrome With a Novel FGFR2 Variant

产前诊断的Beare-Stevenson皮肤回状综合征伴新型FGFR2变异

Crane, Haley M; Giardine, Rose; Strong, Alanna; Wild, K Taylor; Zackai, Elaine; Dugoff, Lorraine; Sparks, Teresa N; Coleman, Beverly; Moldenhauer, Julie S

The ulcerative colitis risk gene adenylyl cyclase 7 restrains the T-helper 2 phenotype and Class II antigen presentation

溃疡性结肠炎风险基因腺苷酸环化酶7抑制T辅助细胞2表型和II类抗原呈递。

Cardinale, Christopher J; Liu, Yichuan; Kevadia, Aayush; Strong, Alanna; Watts, Val J; Hakonarson, Hakon

Advancing precision care in pregnancy through a treatable fetal findings list

通过可治疗的胎儿异常清单推进孕期精准医疗

Cohen, Jennifer L; Duyzend, Michael; Adelson, Sophia M; Yeo, Julie; Fleming, Mark; Ganetzky, Rebecca; Hale, Rebecca; Mitchell, Deborah M; Morton, Sarah U; Reimers, Rebecca; Roberts, Amy; Strong, Alanna; Tan, Weizhen; Thiagarajah, Jay R; Walker, Melissa A; Green, Robert C; Gold, Nina B

Modeling the long-range effect of an inversion downstream of EFNB1 concludes a 43-year molecular diagnostic odyssey for craniofrontonasal syndrome

通过模拟EFNB1下游倒位的长程效应,我们结束了长达43年的颅额鼻综合征分子诊断历程。

Li, Dong; Matsuoka, Leticia S; Donoghue, Sarah; Hou, Cuiping; Strong, Alanna; McDonald-McGinn, Donna M; Whitaker, Linton; Taylor, Jesse; Bhoj, Elizabeth J; Hakonarson, Hakon; Zackai, Elaine H

Chromatin assembly factor subunit CHAF1A as a monogenic cause for oculo-auriculo-vertebral spectrum

染色质组装因子亚基 CHAF1A 是眼耳椎谱疾病的单基因病因。

Pingault, Véronique; Neiva-Vaz, Cécilia; de Oliveira, Judite; Martínez-Gil, Núria; Lasa-Aranzasti, Amaia; Campos, Berta; Lakeman, Inge M M; Nibbeling, Esther A R; Stoeva, Radka; Jayakar, Parul; Dabir, Tabib; Elloumi, Houda Zghal; Strong, Alanna; Hanein, Sylvain; Picard, Arnaud; Ochsenbein, Francoise; Blanc, Pierre; Amiel, Jeanne

Long-Term Health Outcomes of Individuals With Pseudodeficiency Alleles in IDUA May Inform Newborn Screening Practices for Mucopolysaccharidosis Type I

携带IDUA假性缺陷等位基因个体的长期健康结局或可为I型粘多糖贮积症的新生儿筛查提供参考。

Grady, Lauren O; Zoltick, Emilie S; Zouk, Hana; He, Wei; Perez, Emma; Clarke, Lorne; Gold, Jessica; Strong, Alanna; Sahai, Inderneel; Yeo, Julie; Green, Robert C; Karaa, Amel; Gold, Nina B

Novel insights into the phenotypic spectrum and pathogenesis of Hardikar syndrome.

对哈迪卡综合征的表型谱和发病机制的新见解

Strong Alanna, March Michael E, Cardinale Christopher J, Liu Yichuan, Battig Mark R, Finoti Livia Sertori, Matsuoka Leticia S, Watson Deborah, Sridhar Sindura, Jarrett James F, Cannon India, Li Dong, Bhoj Elizabeth, Zackai Elaine H, Rand Elizabeth B, Wenger Tara, Lerman Bruce B, Shikany Amy, Weaver K Nicole, Hakonarson Hakon

Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes

对神经发育障碍队列进行负担重新分析,以确定候选基因的优先顺序

Smal, Noor; Majdoub, Fatma; Janssens, Katrien; Reyniers, Edwin; Meuwissen, Marije E C; Ceulemans, Berten; Northrup, Hope; Hill, Jeremy B; Liu, Lingying; Errichiello, Edoardo; Gana, Simone; Strong, Alanna; Rohena, Luis; Franciskovich, Rachel; Murali, Chaya N; Huybrechs, An; Sulem, Telma; Fridriksdottir, Run; Sulem, Patrick; Stefansson, Kari; Bai, Yan; Rosenfeld, Jill A; Lalani, Seema R; Streff, Haley; Kooy, R Frank; Weckhuysen, Sarah

CRISPR gene-editing therapies for hypertrophic cardiomyopathy

CRISPR基因编辑疗法治疗肥厚型心肌病

Strong, Alanna

Perspectives of Rare Disease Experts on Newborn Genome Sequencing

罕见病专家对新生儿基因组测序的看法

Gold, Nina B; Adelson, Sophia M; Shah, Nidhi; Williams, Shardae; Bick, Sarah L; Zoltick, Emilie S; Gold, Jessica I; Strong, Alanna; Ganetzky, Rebecca; Roberts, Amy E; Walker, Melissa; Holtz, Alexander M; Sankaran, Vijay G; Delmonte, Ottavia; Tan, Weizhen; Holm, Ingrid A; Thiagarajah, Jay R; Kamihara, Junne; Comander, Jason; Place, Emily; Wiggs, Janey; Green, Robert C