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Molecular Genetics and Metabolism
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Top Articles
Molecular Genetics and Metabolism
Endocrinology
,
Biology
,
Genetics
,
Molecular Biology
,
Biochemistry
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
Title
Year
Citations
Fatal systemic inflammatory response syndrome in a ornithine transcarbamylase deficient patient following adenoviral gene transfer
2003
1.1K
A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity
1998
1K
Alu repeats and human disease
1999
727
Folic acid: nutritional biochemistry, molecular biology, and role in disease processes
2000
595
Connective tissue growth factor: what's in a name?
2000
422
Induction of cardiac fibrosis by transforming growth factor-beta(1)
2000
384
Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry
2008
375
Neuropathology provides clues to the pathophysiology of Gaucher disease
2004
360
A common variant in methionine synthase reductase combined with low cobalamin (vitamin B12) increases risk for spina bifida
1999
350
Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update
2012
319
Glucocerebrosidase mutations in subjects with parkinsonism
2004
305
Gaucher disease: complexity in a "simple" disorder
2004
295
MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options
2015
283
Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants
2010
283
Energizing miRNA research: a review of the role of miRNAs in lipid metabolism, with a prediction that miR-103/107 regulates human metabolic pathways
2007
272
Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?
2003
272
Molecular heterosis: a review
2000
271
The in-depth evaluation of suspected mitochondrial disease
2008
270
A polymorphism (80G->A) in the reduced folate carrier gene and its associations with folate status and homocysteinemia
2000
264
Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome
1999
255
Clinical research for rare disease: opportunities, challenges, and solutions
2009
242
Modifier genes convert "simple" Mendelian disorders to complex traits
2000
216
Fabry disease revisited: Management and treatment recommendations for adult patients
2018
215
Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis
2003
215
Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up
2011
214
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How are inpact factors calculated?
The impact factor (IF) is calculated by counting citations from peer-reviewed journals only.
extended IF
also counts citations from books and conference papers. However, no patent, abstract, working papers, online documents, etc., are covered.
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