Impact Factor
3.27
Journal Citation Impact
Estimated influence, citation density, publishing volume, and citation integrity from the analytics table.
Citation rate
1.92
1,497 total citations
h5-index
33
h5 depth signal
Cited share
61.0%
508 of 833
Total citations
1,497
Citation footprint
Metric signal
1.57
External metric anchor
Self-citation
6.9%
103 self-citations
Citations Trend
Monthly Publications Cadence
Citing Geographic Demographics
United States
2,015
Italy
407
Canada
352
United Kingdom
326
Japan
281
Citing Fields of Research
Cytogenetics
2,337
Genetics & Genomics
1,836
Congenital Disorders
1,377
Neurodevelopmental Disorders
499
Cell Differentiation & Development
403
Publishing Activity & Reach
Volume, recency, access pattern, and citing-community signals from the journal analytics record.
All-time article footprint
12,414
Articles tracked across the journal lifetime
Indexed publication set
833
508 cited publications
Last 12 months
354
29.5 publications/month
Open access share
40.4%
143 OA publications in the last year
Leading citing country
United States
2,015 citing publications
Leading citing field
Cytogenetics
2,337 citing publications
Latest tracked publication
19 October 2026
10 recent records available
Coverage & Indexing History
v116An1, Jan. 1, 2003-
v116An1, Jan. 1, 2003-
Active Coverage
Research Focus & Classification
Indexed Subjects
Cytogenetics
Genetics & Genomics
Congenital Disorders
Neurodevelopmental Disorders
Broad Categories
Genetics, Medical
Cytogenetics
MeSH Descriptors
Genetics, Medical
Latest Publications
Recent article records with DOI-first linking and condensed abstracts.
01
DOI 10.1002/ajmg.a.70342
Open DOI
Expanding the Genotypic and Phenotypic Spectrum of Li–Campeau Syndrome: A Homozygous Single‐Exon Deletion in UBR7
Biallelic pathogenic variants in UBR7 , encoding ubiquitin protein ligase E3 component n‐recognin 7, cause Li–Campeau syndrome (LICAS; OMIM #619189), which is characterized by developmental delay/intellectual disability, epilepsy, hypoth...
02
DOI 10.1002/ajmg.a.70335
Open DOI
Absent Septum Pellucidum Without Polymicrogyria or Seizures in TCP1 ‐Related Neurodevelopmental Disorder
T‐complex protein 1 ( TCP1 ) encodes the TCP1α subunit, one of eight subunits of the chaperonin containing TCP1 ring complex (TRiC). Heterozygous TCP1 variants cause autosomal dominant neurodevelopmental disorder characterized by develop...
03
DOI 10.1002/ajmg.a.70321
Open DOI
Neurobehavioral Profiles and Clinical Consequences of MYT1L ‐Related Neurodevelopmental Disorder: Insights From the Brain Gene Registry
MYT1L ‐Related Neurodevelopmental Disorder ( MYT1L ‐NDD) is a rare autosomal dominant syndrome characterized by intellectual disability, global developmental delay, autism, and obesity. Despite growing recognition, prospective and system...
04
DOI 10.1002/ajmg.a.70331
Open DOI
First Report of Biallelic NPPC Variants Causing Acromesomelic Type of Short Stature
C‐type natriuretic peptide (CNP) increases chondrocyte maturation and growth of long bones by acting on its receptor NPR‐B. Increased activity of CNP and NPR‐B has been reported to cause tall stature while decreased activity of NPR‐B cau...
05
DOI 10.1002/ajmg.a.70330
Open DOI
Biallelic PAX6 Variants in an Adult With Severe Microphthalmia and Preserved Intellectual Function
PAX6 encodes a dosage‐sensitive transcription factor that is essential for eye development. Heterozygous PAX6 disease is well characterized, but biallelic disease is extremely rare and has been associated with anophthalmia, severe brain ...
06
DOI 10.1002/ajmg.a.70333
Open DOI
A Novel Homozygous Nonsense Variant in DCHS1 in a Brazilian Patient With Van Maldergem Syndrome Type 1: Clinical Report and Literature Review
Van Maldergem syndrome (VMLDS) is an ultra‐rare autosomal recessive disorder characterized by craniofacial dysmorphism, intellectual disability, hypotonia, skeletal anomalies, and feeding difficulties. It is caused by biallelic variants ...
07
DOI 10.1002/ajmg.a.70328
Open DOI
Reframing Trisomy 13 and 18 Care: Moving Beyond the Myth of “Incompatibility With Life” in a South African and Low‐and Middle‐Income Country Context
Trisomy 13 (T13) and trisomy 18 (T18) have historically been described as “lethal” or “incompatible with life,” contributing to diagnosis‐based limitations of care. Contemporary evidence demonstrates greater heterogeneity in survival and...
08
DOI 10.1002/ajmg.a.70327
Open DOI
Novel Compound Heterozygous ATAD3A Variants in Harel‐Yoon Syndrome With Congenital Cataracts and Dilated Cardiomyopathy
Harel‐Yoon syndrome is a rare mitochondrial disorder caused by pathogenic variants in ATAD3A , typically characterized by neonatal respiratory insufficiency, cataracts, developmental delay, hypotonia, and cerebellar atrophy. We report a ...
09
DOI 10.1002/ajmg.a.70310
Open DOI
Table of Contents, Volume 200A, Number 11, November 2026
10
DOI 10.1002/ajmg.a.70329
Open DOI
The Value of Integrating Adult Genetic Services Into Pregnancy Care: Changing Fetal, Neonatal, and Maternal Management
Adult patients with known or suspected genetic diagnoses face unique challenges in accessing care that informs pregnancy management and reproductive decision‐making. To address this gap, we established an Adult Genetics & Reproductive He...
Bibliographical & Catalog Notes
Founded by: John M. Opitz.
Title from cover.
Latest issue consulted: v. 117A, no. 3 (Mar. 15, 2003).
Odd numbered vols. complete in 3 no.; even numbered vols. complete in 4 no.
Also issued online.