American Journal of Medical Genetics. Part a
Overview
The American Journal of Medical Genetics Part A is a renowned scientific journal that focuses on the field of medical genetics. It publishes original research articles, reviews, and case reports related to the diagnosis, management, and treatment of genetic disorders in humans. With a broad scope, it serves as a valuable resource for geneticists, clinicians, and researchers seeking to advance knowledge and understanding in the field of medical genetics.
Details
Details
Abbr.
Am J Med Genet A
Start
2003
End
Continuing
Frequency
28 no. per year
p-ISSN
1552-4825
e-ISSN
1552-4833
Country
United States
Language
English
Specialty
Genetics
Metrics
Metrics
h-index / Ranks: 1889
131
SJR / Ranks: 6121
718
CiteScore / Ranks: 7225
3.70
JIF / Ranks: 5186
2.0
Recent Articles
1.
Scott E, Wenger O, Adams M, Baple E, Crosby A, Leslie J
Am J Med Genet A
. 2025 Mar;
:e64047.
PMID: 40084550
Prenatal and neonatal presentations of multiple congenital anomalies are difficult to diagnose and are associated with an increased risk of lethality. The differential diagnosis of antenatal presentations of radial ray...
2.
Ng R, Grados M, OConnor J, Kline A
Am J Med Genet A
. 2025 Mar;
:e64040.
PMID: 40084492
Cornelia de Lange syndrome (CdLS) is a rare disorder associated with developmental delay, intellectual disability, autism features, and behavior regulation difficulties. CdLS has been considered to be a spectrum disorder...
3.
Corona-Rivera J, Cortes-Pastrana R, Navia-Espinoza N, Claro-Marin A, Martinez-Torres A, Pena-Padilla C, et al.
Am J Med Genet A
. 2025 Mar;
:e64045.
PMID: 40079387
There have been three previously reported cases of hypomandibular faciocranial syndrome (HFS), which is characterized by dysgnathia (an absent or hypoplastic mandible), a protruding lower face, microstomia, normally positioned ears,...
4.
Rraku E, Engwerda A, Medina T, Swertz M, Johansson L, van Ravenswaaij-Arts C, et al.
Am J Med Genet A
. 2025 Mar;
:e64038.
PMID: 40079377
The scarcity of clinical information surrounding rare chromosome disorders poses challenges for parents and clinicians. To bridge this gap for chromosome 6 disorders, the Chromosome 6 Project collects detailed genotype...
5.
de Kock L, Nougues M, Couse M, Mears W, Eaton A, Kernohan K, et al.
Am J Med Genet A
. 2025 Mar;
:e64046.
PMID: 40071348
No abstract available.
6.
Shimomura R, Shimojima Yamamoto K, Nakano M, Tayama T, Mori T, Nishi E, et al.
Am J Med Genet A
. 2025 Mar;
:e64044.
PMID: 40070183
Duplication-triplication/inverted-duplication (DUP-TRP/INV-DUP) is one of the mechanisms that causes genomic triplications. There are some characteristics of the DUP-TRP/INV-DUP; the appearance of a moving average of signal log2 ratio in genomic...
7.
Du H, Szafranski P, Gerard A, Azamian M, Bi W, Bekheirnia M, et al.
Am J Med Genet A
. 2025 Mar;
:e64036.
PMID: 40062706
Clark-Baraitser syndrome is a rare neurodevelopmental disorder associated with the E3 ubiquitin-protein ligase gene TRIP12. Using chromosomal microarray analysis (CMA), long-range PCR, breakpoint sequencing, and RNA analyses, we studied a...
8.
Di Letto P, Budillon A, Rahman S, Del Vecchio Blanco F, Zanobio M, Scarpato M, et al.
Am J Med Genet A
. 2025 Mar;
:e64039.
PMID: 40062685
Sotos syndrome is a rare genetic disorder characterized by distinctive facial features, including a broad and prominent forehead, dolichocephaly, and learning disabilities ranging from mild to severe intellectual impairment. Affected...
9.
Young B, Neklason D, Clark K, Feng B, Keener M, Tuohy T, et al.
Am J Med Genet A
. 2025 Mar;
:e63992.
PMID: 40062631
Pathogenic germline variants in the APC gene result in familial adenomatous polyposis (FAP) which can escalate into colon cancer. Standard clinical testing failed to identify pathogenic variants in a 4-generation...
10.