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exaly
›
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Journal of Medical Genetics
›
Top Articles
Journal of Medical Genetics
Biology
,
Genetics
5.8
(top 2%)
Impact Factor
6.2
(top 2%)
extended IF
183
(top 1%)
H-Index
5.1K
authors
8.9K
papers
315.1K
citations
8.1K
citing journals
97.7K
citing authors
Most Cited Articles of Journal of Medical Genetics
Title
Year
Citations
Genetic heterogeneity in osteogenesis imperfecta
1979
1.5K
The revised Ghent nosology for the Marfan syndrome
2010
1.3K
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study
1997
854
Malignant peripheral nerve sheath tumours in neurofibromatosis 1
2002
815
International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia
2011
698
ceRNA in cancer: possible functions and clinical implications
2015
655
Hirschsprung disease, associated syndromes and genetics: a review
2008
622
Guidelines for the diagnosis and management of individuals with neurofibromatosis 1
2007
600
Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations
2005
562
Global prevalence of putative haemochromatosis mutations
1997
559
Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease
2002
543
Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome
2002
543
Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia
2004
540
Apoptosis and cancer: mutations within caspase genes
2009
512
Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family
2000
503
Genetic susceptibility to non-polyposis colorectal cancer
1999
500
Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral
2006
495
New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey
1999
477
Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females
2001
469
Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males
2001
457
A family and population study of the genetic polymorphism of debrisoquine oxidation in a white British population
1980
447
Beckwith-Wiedemann syndrome and assisted reproduction technology (ART)
2003
432
Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research
2010
411
Angelman syndrome: a review of the clinical and genetic aspects
2003
410
The genetics of schizophrenia and bipolar disorder: dissecting psychosis
2005
406
previous
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2012
2013
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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