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

TitleYearCitations
Genetic heterogeneity in osteogenesis imperfecta19791.5K
The revised Ghent nosology for the Marfan syndrome20101.3K
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study1997854
Malignant peripheral nerve sheath tumours in neurofibromatosis 12002815
International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia2011698
ceRNA in cancer: possible functions and clinical implications2015655
Hirschsprung disease, associated syndromes and genetics: a review2008622
Guidelines for the diagnosis and management of individuals with neurofibromatosis 12007600
Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations2005562
Global prevalence of putative haemochromatosis mutations1997559
Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease2002543
Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome2002543
Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia2004540
Apoptosis and cancer: mutations within caspase genes2009512
Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family2000503
Genetic susceptibility to non-polyposis colorectal cancer1999500
Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral2006495
New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey1999477
Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females2001469
Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males2001457
A family and population study of the genetic polymorphism of debrisoquine oxidation in a white British population1980447
Beckwith-Wiedemann syndrome and assisted reproduction technology (ART)2003432
Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research2010411
Angelman syndrome: a review of the clinical and genetic aspects2003410
The genetics of schizophrenia and bipolar disorder: dissecting psychosis2005406