Impact Factor
3.42
Journal Citation Impact
Estimated influence, citation density, publishing volume, and citation integrity from the analytics table.
Citation rate
2.50
930 total citations
h5-index
33
h5 depth signal
Cited share
71.6%
285 of 398
Total citations
930
Citation footprint
Metric signal
2.35
External metric anchor
Self-citation
2.3%
21 self-citations
Citations Trend
Monthly Publications Cadence
Citing Geographic Demographics
United States
402
China
335
France
278
Italy
197
Germany
188
Citing Fields of Research
Genetics & Genomics
1,046
Cytogenetics
766
Congenital Disorders
304
Cell Differentiation & Development
185
Neurodevelopmental Disorders
159
Publishing Activity & Reach
Volume, recency, access pattern, and citing-community signals from the journal analytics record.
All-time article footprint
10,263
Articles tracked across the journal lifetime
Indexed publication set
398
285 cited publications
Last 12 months
172
14.3 publications/month
Open access share
45.3%
78 OA publications in the last year
Leading citing country
United States
402 citing publications
Leading citing field
Genetics & Genomics
1,046 citing publications
Latest tracked publication
20 October 2026
10 recent records available
Coverage & Indexing History
v2n1, 1971-
v2n1, 1971-
Active Coverage
Research Focus & Classification
Indexed Subjects
Cytogenetics
Genetics & Genomics
Broad Categories
Genetics, Medical
Cytogenetics
Genetics & Genomics
Cell Differentiation & Development
Cancer & Development
Musculoskeletal Disorders
Hematology
MeSH Descriptors
Genetics, Medical
Latest Publications
Recent article records with DOI-first linking and condensed abstracts.
01
DOI 10.1111/cge.70265
Open DOI
Cerebral Ventriculomegaly With Abnormality of the Aqueduct of Sylvius: A Case Series
Fetal cerebral ventriculomegalies are brain anomalies with potentially poor neurodevelopmental prognosis. They are amenable to prenatal imaging, isolated or associated with other cerebral and/or extra‐cerebral abnormalities. Most are obs...
02
DOI 10.1111/cge.70264
Open DOI
A Familial Case of Thauvin–Robinet–Faivre Syndrome ( TROFAS ), Presenting With Postaxial Polydactyly and Upper Lip Vascular Malformation
Thauvin–Robinet–Faivre syndrome (TROFAS, OMIM #617107) is a recently identified autosomal recessive disorder characterised by syndromic overgrowth, facial dysmorphism, mild intellectual disability, variable congenital anomalies, and occa...
03
DOI 10.1111/cge.70262
Open DOI
Expanding Clinical and Variant Spectrum of CBX1 ‐Related Syndrome: Report of Three Novel Cases
CBX1 ‐related syndrome is characterized by developmental delay, hypotonia, autistic features, and mild dysmorphic features. This syndrome is caused by heterozygous missense variants in CBX1 , which encodes heterochromatin protein 1 beta ...
04
DOI 10.1111/cge.70250
Open DOI
Analysis of Genomic Testing of Congenital Heart Disease in a Cohort From a Consanguineous Population
Congenital heart disease (CHD) is the most common type of birth defect with tremendous genetic heterogeneity. The aim of our study was to unravel the molecular pathology and the magnitude of recessive genotypes (RGs) in a cohort of CHD f...
05
DOI 10.1111/cge.70259
Open DOI
A Homozygous ALCAM–CBLB Deletion at 3q13.11‐q13.12 Defines a Candidate Novel Oculo‐Skeletal‐Immune Contiguous Gene Deletion Syndrome
To our knowledge, we report the first combined homozygous deletion of ALCAM and CBLB at 3q13.11‐q13.12. The patient, a 14‐year‐old boy born to consanguineous parents, had a multisystem phenotype with severe congenital ocular and craniofa...
06
DOI 10.1111/cge.70260
Open DOI
Two Truncating MITF Variants Expand the Phenotypic Spectrum of COMMAD Syndrome
Pathogenic variants in MITF (Microphthalmia Transcription Factor) gene are associated with a spectrum of disorders, including Waardenburg syndrome type II and Tietz syndrome. Rare reports suggest that biallelic loss‐of‐function variants ...
07
08
DOI 10.1111/cge.70241
Open DOI
A Novel ACAN Missense Variant in the G1 Domain Causes Short Stature, Advanced Bone Age, and Osteochondritis Dissecans: A Case Report and Literature Review
Heterozygous ACAN variants are a major monogenic cause of short stature (SS). We reported a 7 years and 11 months Chinese girl with SS, advanced bone age (BA), and asymptomatic knee osteochondritis dissecans. Targeted next generation seq...
09
DOI 10.1111/cge.70254
Open DOI
A De Novo ATP1A3 p. Arg995His Variant in a Patient With an Adult‐Onset Primary Lateral Sclerosis‐Like Syndrome
Pathogenic variants in ATP1A3 are classically associated with alternating hemiplegia of childhood, CAPOS syndrome, and rapid‐onset dystonia‐parkinsonism. However, the phenotypic spectrum of ATP1A3‐related disease has expanded considerabl...
10
DOI 10.1111/cge.70237
Open DOI
Issue Information
Bibliographical & Catalog Notes
Also issued online.
Vol. 17, no. 1 (1980)19921022 Notice not published Printed on acid-free paper