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

Genome Analysis Using Whole-Exome Sequencing of Non-Syndromic Cleft Lip and/or Palate from Malagasy Trios Identifies Variants Associated with Cilium-Related Pathways and Asian Genetic Ancestry

使用马达加斯加三人组的无综合征唇腭裂全外显子组测序进行基因组分析,鉴定出与纤毛相关通路和亚洲遗传血统相关的变异

Zarko Manojlovic, Allyn Auslander, Yuxin Jin, Ryan J Schmidt, Yili Xu, Sharon Chang, Ruocen Song, Sue A Ingles, Alana Nunes, K C Vavra, Devin Feigelson, Sylvia Rakotoarison, Melissa DiBona, Kathy Magee, Operation Smile, Anjaramamy Ramamonjisoa, William Magee Iii0

High prevalence of deleterious mutations in concomitant nonsyndromic cleft and outflow tract heart defects

伴随的非综合征性裂隙和流出道心脏缺陷中有害突变的患病率很高

Naikhoba C O Munabi, Shady Mikhail, Omar Toubat, Michelle Webb, Allyn Auslander, Pedro A Sanchez-Lara, Zarko Manojlovic, Ryan J Schmidt, David Craig, William P Magee 3rd, Subramanyan Ram Kumar0

A Synonymous Exonic Splice Silencer Variant in IRF6 as a Novel and Cryptic Cause of Non-Syndromic Cleft Lip and Palate

IRF6 中的同义外显子剪接沉默子变体是无综合征唇腭裂的一种新型隐秘病因

Beau Sylvester, Frederick Brindopke, Akiko Suzuki, Melissa Giron, Allyn Auslander, Richard L Maas, Becky Tsai, Hanlin Gao, William Magee 3rd, Timothy C Cox, Pedro A Sanchez-Lara