How human genetic context can inform pathogenicity classification: FGFR1 variation in idiopathic hypogonadotropic hypogonadism-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

How human genetic context can inform pathogenicity classification: FGFR1 variation in idiopathic hypogonadotropic hypogonadism

Published:2023-10-07 Issue:11 Volume:142 Page:1611-1619
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum. Genet.

Author:

Xu Wanxue,Plummer Lacey,Seminara Stephanie B.,Balasubramanian Ravikumar,Lippincott Margaret F.

Funder

Eunice K. Shriver National Institute for Child Health and Human Developme

Eunice K. Shriver National Institute for Child Health and Human Development

Catalyst Medical Research Investigator Training Award

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://link.springer.com/content/pdf/10.1007/s00439-023-02601-w.pdf

Reference35 articles.

1. Adzhubei I, Jordan DM, Sunyaev SR (2013) Predicting functional effect of human missense mutations using PolyPhen-2. Curr Protoc Hum Genet. https://doi.org/10.1002/0471142905.hg0720s76

2. Balasubramanian R, Crowley WF Jr (2011) Isolated GnRH deficiency: a disease model serving as a unique prism into the systems biology of the GnRH neuronal network. Mol Cell Endocrinol 346(1–2):4–12. https://doi.org/10.1016/j.mce.2011.07.012

3. Belov AA, Mohammadi M (2013) Molecular mechanisms of fibroblast growth factor signaling in physiology and pathology. Cold Spring Harb Perspect Biol. https://doi.org/10.1101/cshperspect.a015958

4. Brnich SE, Abou Tayoun AN, Couch FJ et al (2019) Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework. Genome Med 12(1):3. https://doi.org/10.1186/s13073-019-0690-2

5. Burke W, Parens E, Chung WK, Berger SM, Appelbaum PS (2022) The challenge of genetic variants of uncertain clinical significance : a narrative review. Ann Intern Med 175(7):994–1000. https://doi.org/10.7326/M21-4109

同舟云学术

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