Molecular Syndromology
ISSN:1661-8769

Molecular Syndromology

MOL SYNDROMOL
学科领域:医学
是否预警:不在预警名单内
是否OA:
录用周期:-
新锐分区:医学4区
年发文量:101
影响因子:0.9
JCR分区:Q4

基本信息

《分子综合征》发表关于常见和罕见遗传综合征的高质量研究文章、简短报告和综述,旨在通过分子见解增加临床理解。特别感兴趣的主题是遗传综合征的分子基础、基因型-表型相关性、自然史、疾病管理策略和基于分子发现的新治疗方法。对模型系统的研究也是受欢迎的,特别是当它明显与人类遗传学有关时。通过对当前主题的高质量评论,该杂志旨在促进研究结果在临床环境中的转化,同时也刺激对临床相关问题的进一步研究。该杂志的目标不仅是医学遗传学家和基础生物医学研究人员,但也临床医生处理遗传综合征。该杂志拥有来自三大洲的四名副编辑和一个广泛的国际编辑委员会,欢迎来自世界各地的最新研究投稿。
1661-8769SCIE/Scopus收录
0.9
0.7
2026年3月发布
点击查看历史分区趋势    >
大类学科小类学科Top期刊综述期刊
医学4区
GENETICS & HEREDITY 遗传学
4区
N/A
WOS期刊SCI分区  2024-2025最新升级版
按JIF指标学科分区收集子录JIF分区JIF排名百分位
学科:GENETICS & HEREDITY
SCIE
Q4
178/192
按JCR指标学科分区收集子录JCR分区JCR排名百分位
学科:GENETICS & HEREDITY
SCIE
Q4
181/192
暂无h-index数据
101
1%---Biochemistry, Genetics and Molecular Biology-Genetics
11.1%
时间预警情况
2026年03月发布的新锐学术版不在预警名单中
2025年03月发布的2025版不在预警名单中
2024年02月发布的2024版不在预警名单中
2023年01月发布的2023版不在预警名单中
2021年12月发布的2021版不在预警名单中
2020年12月发布的2020版不在预警名单中
97.03%4.62%-
CiteScore:1.80
SJR:0.437
SNIP:0.702
学科类别分区排名百分位
大类:Medicine
小类:Genetics (clinical)
Q4
78 / 100
大类:Medicine
小类:Genetics
Q4
297 / 348

期刊高被引文献

Novel Mutations and Unreported Clinical Features in KBG Syndrome
来源期刊:Molecular SyndromologyDOI:10.1159/000496172
A Recurrent Variant in MAGEL2 in Five Siblings with Severe Respiratory Disturbance after Birth
来源期刊:Molecular SyndromologyDOI:10.1159/000501376
Torpedo Maculopathy Associated with NEXMIF Mutation
来源期刊:Molecular SyndromologyDOI:10.1159/000498835
A Venezuelan Case of Schmid-Type Metaphyseal Chondrodysplasia with a Novel Mutation in COL10A1
来源期刊:Molecular SyndromologyDOI:10.1159/000496553
Mutations in Mediator Complex Genes CDK8, MED12, MED13, and MEDL13 Mediate Overlapping Developmental Syndromes
来源期刊:Molecular SyndromologyDOI:10.1159/000502346
Deletion of Chromosome 13 due to Different Rearrangements and Impact on Phenotype
来源期刊:Molecular SyndromologyDOI:10.1159/000497402
Deep Phenotyping of Development, Communication and Behaviour in Phelan-McDermid Syndrome
来源期刊:Molecular SyndromologyDOI:10.1159/000503840
Further Delineation of the Microcephaly-Micromelia Syndrome Associated with Loss-of-Function Variants in DONSON
来源期刊:Molecular SyndromologyDOI:10.1159/000497337
NUP188 Biallelic Loss of Function May Underlie a New Syndrome: Nucleoporin 188 Insufficiency Syndrome?
来源期刊:Molecular SyndromologyDOI:10.1159/000504818
Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome: New Report with a 197-kb Deletion Upstream of FOXL2 and Review of the Literature
来源期刊:Molecular SyndromologyDOI:10.1159/000497092
Report of a Second Lebanese Family with Basel-Vanagaite-Smirin-Yosef Syndrome: Possible Founder Mutation
来源期刊:Molecular SyndromologyDOI:10.1159/000501114
Previously Unreported COL7A1 Mutation in a Somali Patient with Dystrophic Epidermolysis Bullosa
来源期刊:Molecular SyndromologyDOI:10.1159/000504210
A Novel DLG3 Mutation Expanding the Phenotype of X-Linked Intellectual Disability Caused by DLG3 Nonsense Variants
来源期刊:Molecular SyndromologyDOI:10.1159/000502601
A Balanced Reciprocal Translocation t(2;9)(p25;q13) Disrupting the LINC00299 Gene in a Patient with Intellectual Disability
来源期刊:Molecular SyndromologyDOI:10.1159/000500397
Genomic Earthquakes in the Human Germline and Their Ramifications
来源期刊:Molecular SyndromologyDOI:10.1159/000503366
GATAD2B Gene Microdeletion Causing Intellectual Disability Autosomal Dominant Type 18: Case Report and Review of the Literature
来源期刊:Molecular SyndromologyDOI:10.1159/000499209
Identification of Novel and Recurrent RMRP Variants in a Series of Brazilian Patients with Cartilage-Hair Hypoplasia: McKusick Syndrome
来源期刊:Molecular SyndromologyDOI:10.1159/000501892
Defining the Critical Region for Intellectual Disability and Brain Malformations in 6q27 Microdeletions
来源期刊:Molecular SyndromologyDOI:10.1159/000501008
Nonsyndromic Split-Hand/Foot Malformation: Recent Classification
来源期刊:Molecular SyndromologyDOI:10.1159/000502784
Co-Occurrence of Leber Congenital Amaurosis and Meckel Syndrome Type 1 in a Fetus: Is There a Lesson to Be Learned
来源期刊:Molecular SyndromologyDOI:10.1159/000496280
Genes Positively Selected in Domesticated Mammals Are Significantly Dysregulated in the Blood of Individuals with Autism Spectrum Disorders
来源期刊:Molecular SyndromologyDOI:10.1159/000505116
1q42.12q42.2 Deletion in a Child with Midline Defects and Hypoplasia of the Corpus Callosum
来源期刊:Molecular SyndromologyDOI:10.1159/000496079
Supravalvular Aortic Stenosis Caused by a Familial Chromosome 7 Inversion Disrupting the ELN Gene Uncovered by Whole-Genome Sequencing
来源期刊:Molecular SyndromologyDOI:10.1159/000500215
Novel MECP2 Mutation c.1162_1172del; p.Pro388* in Two Patients with Symptoms of Atypical Rett Syndrome
来源期刊:Molecular SyndromologyDOI:10.1159/000501183
Concurrent Structural and Single Nucleotide Variation Resulting from a Single Replication-Based Mechanism
来源期刊:Molecular SyndromologyDOI:10.1159/000501382
A Novel Pathological ARSB Mutation (c.870G>A; p.Trp290stop) in Mucopolysaccharidosis Type VI Patients
来源期刊:Molecular SyndromologyDOI:10.1159/000502597
Novel HIVEP2 Variants in Patients with Intellectual Disability
来源期刊:Molecular SyndromologyDOI:10.1159/000499060
Multiple Congenital Anomalies in a Patient with Interstitial 6q26 Deletion
来源期刊:Molecular SyndromologyDOI:10.1159/000503698
Partial Monosomy 4p and Trisomy 12q due to a t(4;12)(p16.3;q24.31) Familial Translocation in Two Cousins
来源期刊:Molecular SyndromologyDOI:10.1159/000501923
Copy Number Gain at Xq28 in a Child with Global Developmental Delay Associated with a Variant Form of Hoyeraal-Hreidarsson Syndrome
来源期刊:Molecular SyndromologyDOI:10.1159/000500005
Cardiofaciocutaneous Syndrome Phenotype in a Case with de novo KRAS Pathogenic Variant
来源期刊:Molecular SyndromologyDOI:10.1159/000504374
Author Index
来源期刊:Molecular SyndromologyDOI:10.1159/000496412
A Rare Case of Mosaic Unbalanced Non-Robertsonian Translocation Involving Chromosomes 15 and 22 with Congenital Abnormalities in Monozygotic Twins
来源期刊:Molecular SyndromologyDOI:10.1159/000505004
Interstitial 4q Deletion Syndrome Including NR3C2 Causing Pseudohypoaldosteronism
来源期刊:Molecular SyndromologyDOI:10.1159/000505279
Novel Ocular and Inner Ear Anomalies in a Patient with Myhre Syndrome
来源期刊:Molecular SyndromologyDOI:10.1159/000504829

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