4(top 4%)
Impact Factor
4.3(top 4%)
extended IF
114(top 3%)
H-Index
4.9K
authors
8.8K
papers
169.3K
citations
7K
citing journals
66.5K
citing authors

Most Cited Articles of Clinical Genetics

TitleYearCitations
A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length2004614
Genetic and clinical aspects of Charcot-Marie-Tooth's disease1974608
Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications2009543
The molecular regulation of myogenesis2000521
Gene/environment causes of cleft lip and/or palate2002491
Niemann-Pick disease type C2003473
A cytogenetic survey of 14,069 newborn infants. I. Incidence of chromosome abnormalities1975402
The Cowden syndrome: a clinical and genetic study in 21 patients1986393
Genes and mutations causing retinitis pigmentosa2013336
Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations2007333
Consanguinity and its relevance to clinical genetics2001321
The modular nature of genetic diseases2007306
Biochemical effect of liver transplantation in two Swedish patients with familial amyloidotic polyneuropathy (FAP-met30)1991278
To tell or not to tell: barriers and facilitators in family communication about genetic risk2003277
The changing survival profile of people with Down's syndrome: implications for genetic counselling2002274
The contribution of HLA to rheumatoid arthritis1989273
Epigenetic modifications in cancer2012270
Single nucleotide polymorphisms and the future of genetic epidemiology2000250
The Ehlers-Danlos syndrome, a disorder with many faces2012248
Clinical features and natural history of Beckwith-Wiedemann syndrome: presentation of 74 new cases1994247
Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care2016243
Cumulative lifetime incidence of extracolonic cancers in Lynch syndrome: a report of 121 families with proven mutations2009243
Lp(a) lipoprotein and pre-beta1-lipoprotein in patients with coronary heart disease1974238
Determining zygosity in the Vietnam Era Twin Registry: an approach using questionnaires1989219
The McCune-Albright syndrome: a lethal gene surviving by mosaicism1986217