3.7(top 10%)
Impact Factor
4(top 10%)
extended IF
117(top 3%)
H-Index
2.8K
authors
4.1K
papers
123.6K
citations
6K
citing journals
56.1K
citing authors

Most Cited Articles of Molecular Genetics and Metabolism

TitleYearCitations
Fatal systemic inflammatory response syndrome in a ornithine transcarbamylase deficient patient following adenoviral gene transfer20031.1K
A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity19981K
Alu repeats and human disease1999727
Folic acid: nutritional biochemistry, molecular biology, and role in disease processes2000595
Connective tissue growth factor: what's in a name?2000422
Induction of cardiac fibrosis by transforming growth factor-beta(1)2000384
Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry2008375
Neuropathology provides clues to the pathophysiology of Gaucher disease2004360
A common variant in methionine synthase reductase combined with low cobalamin (vitamin B12) increases risk for spina bifida1999350
Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update2012319
Glucocerebrosidase mutations in subjects with parkinsonism2004305
Gaucher disease: complexity in a "simple" disorder2004295
MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options2015283
Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants2010283
Energizing miRNA research: a review of the role of miRNAs in lipid metabolism, with a prediction that miR-103/107 regulates human metabolic pathways2007272
Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?2003272
Molecular heterosis: a review2000271
The in-depth evaluation of suspected mitochondrial disease2008270
A polymorphism (80G->A) in the reduced folate carrier gene and its associations with folate status and homocysteinemia2000264
Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome1999255
Clinical research for rare disease: opportunities, challenges, and solutions2009242
Modifier genes convert "simple" Mendelian disorders to complex traits2000216
Fabry disease revisited: Management and treatment recommendations for adult patients2018215
Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis2003215
Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up2011214