Genetics in Medicine

期刊全称

期刊缩写

Genet. Med.

涉及主题

医学生物遗传学化学生物化学内科学基因病理心理学表型政治学突变精神科

期刊介绍

Genetics in Medicine (GIM) is the official journal of the American College of Medical Genetics and Genomics. The journal's mission is to enhance the knowledge, understanding, and practice of medical genetics and genomics through publications in clinical and laboratory genetics and genomics, including ethical, legal, and social issues as well as public health. As genetics and genomics continue to increase in importance and relevance in medical practice, the journal will be an accessible and authoritative resource for the dissemination of medical genetic knowledge to all medical providers through appropriate original research, reviews, commentaries, standards, and guidelines. GIM encourages research that combats racism, includes diverse populations and is written by authors from diverse and underrepresented backgrounds.

期刊ISSN

print: 1098-3600

历年影响因子

2024年	2023年	2022年	2021年	2020年	2019年	2018年	2017年
6.6	8.8	8.864	8.822	8.904	8.683	9.937	8.229

历年发表/被引量

年份	2025	2024	2023	2022	2021	2020	2019	2018	2017	2016	2015	2014	2013	2012
发表量	123	211	210	835	353	320	320	390	253	229	211	199	213	233
被引量	11360	25730	26706	27187	26980	22794	18814	15955	13262	11547	10511	9593	8724	7176

h-Index

111

自引率

6.10%

涉及的研究领域

医学-遗传学

中科院2025年分区

大类	小类	TOP期刊	综述期刊
1区	1区遗传学	是	否

WOS期刊分区

JCR学科分类

JCR分区学科名称	收录数据库	JCR分区	分区排名
GENETICS & HEREDITY	SCIE	Q1	18/191

JCI学科分类

JCI分区学科名称	收录数据库	JCI分区	分区排名
GENETICS & HEREDITY	SCIE	Q1	13/191

期刊主页

https://www.journals.elsevier.com/genetics-in-medicine https://www.sciencedirect.com/journal/genetics-in-medicine

投稿网址

https://www.editorialmanager.com/genetmed/default.aspx

出版商

ELSEVIER

出版国家（地区）

USA

出版语言

English

出版周期

Monthly

每年出版文章数

195

Gold OA文章占比

65.65%

原创研究文献占比
(排除综述)

91.34%

SCI收录类型

Science Citation Index Expanded (SCIE)

Scopus (CiteScore)

PubMed链接

http://www.ncbi.nlm.nih.gov/nlmcatalog?term=1098-3600%5BISSN%5D

平均审稿周期

偏慢,4-8周

平均录用比例

较易

Genetics in Medicine

JCR学科分类

JCI学科分类

期刊相关文献 (94)

ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy.

ELFN1 缺陷：一种伴有癫痫的神经发育障碍的机制基础和表型谱

Biallelic null variants in C19orf44 cause a unique late-onset retinal dystrophy phenotype characterized by patchy perifoveal chorioretinal atrophy.

C19orf44 中的双等位基因无效变异会导致一种独特的迟发性视网膜营养不良表型，其特征是斑片状中心凹周围脉络膜视网膜萎缩

Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma

YKT6 纯合错义变异会导致功能丧失，并与发育迟缓有关，伴有或不伴有严重的婴儿肝病和肝细胞癌风险

Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly

RBBP5 功能丧失导致与小头畸形相关的综合征性神经发育障碍

Biallelic USP14 variants cause a syndromic neurodevelopmental disorder

双等位基因 USP14 变异可导致综合征性神经发育障碍

A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder

E3 泛素连接酶底物识别亚基 FEM1B 中的复发性错义变异导致罕见的综合征性神经发育障碍

Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders

可变剪接扩大了 NDUFS6 相关线粒体疾病的临床范围

Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.

FAM177A1 是一种定位于高尔基体的蛋白质，其功能丧失会导致一种新的神经发育障碍

Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities.

SREBF2 中的显性错义变异与复杂的皮肤病、神经系统疾病和骨骼疾病有关

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