Impact Factor
3.09
Journal Citation Impact
Estimated influence, citation density, publishing volume, and citation integrity from the analytics table.
Citation rate
1.75
686 total citations
h5-index
23
h5 depth signal
Cited share
65.2%
275 of 422
Total citations
686
Citation footprint
Metric signal
1.63
External metric anchor
Self-citation
1.0%
7 self-citations
Citations Trend
Monthly Publications Cadence
Citing Geographic Demographics
China
1,031
United States
443
Italy
114
Iran
96
Germany
87
Citing Fields of Research
Genetics & Genomics
1,156
Cytogenetics
707
Congenital Disorders
288
Musculoskeletal Disorders
151
Hematology
141
Publishing Activity & Reach
Volume, recency, access pattern, and citing-community signals from the journal analytics record.
All-time article footprint
2,775
Articles tracked across the journal lifetime
Indexed publication set
422
275 cited publications
Last 12 months
155
12.9 publications/month
Open access share
100.0%
155 OA publications in the last year
Leading citing country
China
1,031 citing publications
Leading citing field
Genetics & Genomics
1,156 citing publications
Latest tracked publication
16 October 2026
10 recent records available
Coverage & Indexing History
v5n1, Jan. 2017-
v1n1, 2013-
Active Coverage
Research Focus & Classification
Indexed Subjects
Cytogenetics
Genetics & Genomics
Congenital Disorders
Hematology
Musculoskeletal Disorders
Auditory Loss
Broad Categories
Genetics, Medical
Molecular Biology
Cytogenetics
Genetics & Genomics
Cell Differentiation & Development
Mitochondria
Hematology
Musculoskeletal Disorders
MeSH Descriptors
Genetics, Medical
Genomics
Latest Publications
Recent article records with DOI-first linking and condensed abstracts.
01
DOI 10.1002/mgg3.70311
Open DOI
To Test or Not to Test: A Real‐World Study of Employee Views and Decision‐Making for Genetic Testing in the Workplace
Background: This study explored employees' decision‐making processes and perspectives on workplace genetic testing (wGT), comparing those who had not participated (Non‐Testers) with those who had participated (Testers) in wGT. Methods: E...
02
DOI 10.1002/mgg3.70324
Open DOI
Prenatal Diagnosis and Postnatal Follow‐Up of 19 Fetuses With 16p13.11 Microduplication in a Cohort of 12,038 Pregnancies From South Zhejiang
Background: Prenatal interpretation of 16p13.11 microduplication remains difficult in daily practice, mainly because the same duplication may be associated with very different clinical outcomes. In this study, we reviewed fetuses diagnos...
03
DOI 10.1002/mgg3.70308
Open DOI
The First Case of Digenic MODY Diabetes Involving Compound Heterozygosity of Three Variants in the PDX1 and HNF1B Genes
Objectives: We report a rare case of digenic MODY. In 2016, at age 15, the patient was diagnosed with type 1 diabetes and began insulin therapy. After discrepancies in her glycaemic control were observed, an extensive differential diagno...
04
DOI 10.1002/mgg3.70322
Open DOI
A Novel Homozygous Variant Associated With Distinct Clinical Phenotypes of SDR9C7 Nonsyndromic Epidermal Differentiation Disorder in Two Affected Patients From a Consanguineous Saudi Family
Background: Nonsyndromic Epidermal Differentiation Disorders (nEDD) are a group of heterogeneous disorders characterized by scaling and erythema. Pathogenic variants in SDR9C7 cause SDR9C7 ‐nEDD. We report two affected siblings from a co...
05
DOI 10.1002/mgg3.70316
Open DOI
Newborn Screening of Primary Carnitine Deficiency and Prenatal Genetic Diagnosis for a Recurrence‐Risk Family
Background: Primary carnitine deficiency (PCD) is a treatable autosomal recessive disorder caused by SLC22A5 gene variants and included in newborn screening widely. However, its prevalence and variant spectrum vary greatly, and prenatal ...
06
DOI 10.1002/mgg3.70300
Open DOI
Building Sustainable Patient Involvement in Rare Condition Research
07
DOI 10.1002/mgg3.70286
Open DOI
Mosaicism for Cohen–Gibson Syndrome in a Female Individual With Overgrowth and Neurodevelopmental Delay
Background: The Embryonic Ectoderm Development ( EED ) gene encodes a core component of the Polycomb Repressive Complex 2 (PRC2), which regulates chromatin structure and plays a key role in embryonic development and cell differentiation....
08
DOI 10.1002/mgg3.70318
Open DOI
A Novel De Novo MTM1 Insertion Frameshift Variant Causes X‐Linked Myotubular Myopathy in a Chinese Female
Background: MTM1 ‐related X‐linked myotubular myopathy (XLMTM) typically affects males; however, symptomatic female carriers may occur. Methods: We evaluated a 24‐year‐old woman with infantile hypotonia followed by slowly progressive, as...
09
DOI 10.1002/mgg3.70314
Open DOI
Clinical Practice of Single‐Molecule Real‐Time Sequencing in the Diagnosis of Spinal Muscular Atrophy
Objectives: To investigate the distribution proportions of the SMN1 gene in spinal muscular atrophy (SMA) using single‐molecule real‐time sequencing (SMRT), thereby providing supplementary evidence for SMA genotyping. Methods: A retrospe...
10
DOI 10.1002/mgg3.70313
Open DOI
Identification of Variants in Two Families With Congenital Cataract by Whole Exome Sequencing
Background: Congenital cataract (CC) is an ophthalmic disorder diagnosed at birth or during early infancy, characterized by severe visual impairment and potential blindness. This study aimed to evaluate the pathogenicity of two variants:...