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
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Kilic M, Sayar E, Icil S, Dogan S, Gokce-Altas G, Kosukcu C, et al.
Am J Med Genet A
. 2025 Mar;
:e64037.
PMID: 40047138
Maple syrup urine disease (MSUD) is a rare inborn error of metabolism caused by impaired catabolism of branched-chain amino acids (BCAAs). The genes BCKDHA, BCKDHB, DBT, and DLD encode the...
14.
Echols T, Britt A, Vatsky S, Sheppard S, Pukenas B, Borst A
Am J Med Genet A
. 2025 Mar;
:e64041.
PMID: 40047120
Capillary malformation-arteriovenous malformation syndrome (CM-AVM) is a germline vascular dysplasia that is typically characterized by cutaneous capillary malformations and central nervous system arteriovenous malformations (AVM). We report an atypical presentation...
15.
Selina A, Kandagaddala M, Thomas N, Paul T, Chapla A, Danda S, et al.
Am J Med Genet A
. 2025 Mar;
:e64023.
PMID: 40047057
Heterozygous COL1A1 and COL1A2 gene variants are known to cause osteogenesis imperfecta (OI) in 90% of the patients in the Western and Japanese populations. Two previous Indian reports, a total...
16.
Loughman L, Samnakay N, Lam G, Pantaleo S, Roesley A, Kamien B
Am J Med Genet A
. 2025 Mar;
:e64033.
PMID: 40028877
Blepharocheilodontic syndrome (BCD syndrome) is an autosomal dominant condition characterized by cleft lip/palate, distinct eyelid abnormalities, and ectodermal changes affecting hair and teeth. This report presents a novel case of...
17.
First Report of Phosphoglycerate Kinase Deficiency in a Dinè Child With Review of Current Literature
Hierholzer A, Mador J, Guntu R, Schafernak K, Grebe T
Am J Med Genet A
. 2025 Mar;
:e64034.
PMID: 40026287
We report a 4-year-old Dinè (Navajo) boy who presented with acute respiratory distress, elevated creatine kinase, anemia, and progressive encephalopathy. He was subsequently diagnosed with a rare inborn error of...
18.
Brown C, Bower M, Schomaker M, Goldstein J, Jarnes J, Whitley C, et al.
Am J Med Genet A
. 2025 Mar;
:e64012.
PMID: 40026274
An illustration of the importance of manual data review for identifying rare intronic variants adjacent to homopolymers is presented here. A 14-year-old male with Niemann-Pick Type C disease confirmed biochemically...
19.
McCarron E, Oldham A, Herwadkar A, Jenkinson S, Campbell C, Neal K, et al.
Am J Med Genet A
. 2025 Feb;
:e64031.
PMID: 40017455
Krabbe disease (KD), or globoid cell leukodystrophy, is a rare autosomal recessive lysosomal storage disorder caused by a deficiency in galactocerebrosidase (GALC), leading to psychosine (galactosylsphingosine) accumulation and myelin damage....
20.
Pascual M, Cox H, Larson A, Bruckner A
Am J Med Genet A
. 2025 Feb;
:e64032.
PMID: 40013374
Recessive dystrophic epidermolysis bullosa (RDEB) is a rare genetic disorder caused by biallelic pathogenic variants in COL7A1, the gene encoding the alpha-1 chain of type VII collagen (C7). While over...