Rare variants found in clinical gene panels illuminate the genetic and allelic architecture of orofacial clefting
Author:
Funder
National Institutes of Health
Howard Hughes Medical Institute
Common Fund
Publisher
Elsevier BV
Subject
Genetics (clinical)
Reference55 articles.
1. Genetic models and approaches to study orofacial clefts;Leslie;Oral Dis,2022
2. A cohort study of recurrence patterns among more than 54,000 relatives of oral cleft cases in Denmark: support for the multifactorial threshold model of inheritance;Grosen;J Med Genet,2010
3. IRF6 mutation screening in non-syndromic orofacial clefting: analysis of 1521 families;Leslie;Clin Genet,2016
4. Whole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and/or palate in genes mutated in well-known syndromes;Basha;J Med Genet,2018
5. Genome-wide enrichment of de novo coding mutations in orofacial cleft trios;Bishop;Am J Hum Genet,2020
Cited by 6 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Functional analysis of ESRP1/2 gene variants and CTNND1 isoforms in orofacial cleft pathogenesis;Communications Biology;2024-08-23
2. Four Loss of Function Pathogenic Variants in ARHGAP29 in Non-Syndromic Cleft Lip and Palate;2024-07-15
3. Functional analysis ofESRP1/2gene variants andCTNND1isoforms in orofacial cleft pathogenesis;2024-07-02
4. The heterogeneous genetic architectures of orofacial clefts;Trends in Genetics;2024-05
5. Identification of rare variants in PTCH2 associated with non-syndromic orofacial clefts;Gene;2024-05
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3