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exaly
›
Journals
›
Clinical Genetics
›
top-articles
Clinical Genetics
2.8
(top 20%)
impact factor
9.2K
(top 2%)
papers
198.5K
(top 2%)
citations
128
(top 5%)
h
-index
2.9
(top 20%)
impact factor
10.6K
all documents
211.7K
doc citations
185
(top 5%)
g
-index
Top Articles
#
Title
Journal
Year
Citations
1
Genetic and clinical aspects of Charcot‐Marie‐Tooth's disease
Clinical Genetics
1974
750
2
A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length
Clinical Genetics
2004
738
3
Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications
Clinical Genetics
2009
672
4
Gene/environment causes of cleft lip and/or palate
Clinical Genetics
2002
609
5
The molecular regulation of myogenesis
Clinical Genetics
2000
599
6
Niemann-Pick disease type C
Clinical Genetics
2003
558
7
A cytogenetic survey of 14,069 newborn infants
Clinical Genetics
1975
484
8
The Cowden syndrome: a clinical and genetic study in 21 patients
Clinical Genetics
1986
478
9
Genes and mutations causing retinitis pigmentosa
Clinical Genetics
2013
471
10
Consanguinity and its relevance to clinical genetics
Clinical Genetics
2001
427
11
Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations
Clinical Genetics
2007
404
12
The modular nature of genetic diseases
Clinical Genetics
2006
371
13
Epigenetic modifications in cancer
Clinical Genetics
2012
369
14
Biochemical effect of liver transplantation in two Swedish patients with familial amyloidotic polyneuropathy (FAP‐met
30
)
Clinical Genetics
1991
350
15
The changing survival profile of people with Down's syndrome: implications for genetic counselling
Clinical Genetics
2002
339
16
The contribution of H LA to rheumatoid arthritis
Clinical Genetics
1989
325
17
Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care
Clinical Genetics
2016
323
18
Single nucleotide polymorphisms and the future of genetic epidemiology
Clinical Genetics
2000
316
19
Polymorphism of apolipoprotein E
Clinical Genetics
1979
316
20
The Ehlers–Danlos syndrome, a disorder with many faces
Clinical Genetics
2012
310
21
To tell or not to tell: barriers and facilitators in family communication about genetic risk
Clinical Genetics
2003
309
22
Clinical features and natural history of Beckwith‐Wiedemann syndrome: presentation of 74 new cases
Clinical Genetics
1994
303
23
X‐chromosome inactivation in female patients with Fabry disease
Clinical Genetics
2016
290
24
Lp(a) lipoprotein and pre‐β
1
‐lipoprotein in patients with coronary heart disease
Clinical Genetics
1974
283
25
Cumulative lifetime incidence of extracolonic cancers in Lynch syndrome: a report of 121 families with proven mutations
Clinical Genetics
2009
280
26
The Human Phenotype Ontology
Clinical Genetics
2010
267
27
Determining zygosity in the Vietnam Era Twin Registry: an approach using questionnaires
Clinical Genetics
1989
265
28
The McCune‐Albright syndrome: a lethal gene surviving by mosaicism
Clinical Genetics
1986
264
29
Nature and nurture: the complex genetics of myopia and refractive error
Clinical Genetics
2011
253
30
Ascertainment in the sequential sampling of pedigrees
Clinical Genetics
1977
229
31
The Mainz Severity Score Index: a new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy
Clinical Genetics
2004
228
32
Genetics of population isolates
Clinical Genetics
2002
227
33
Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia
Clinical Genetics
2004
227
34
Polymorphism at the Apoprotein-E locus in relation to risk of coronary disease
Clinical Genetics
2008
227
35
Predicting zygosity in Norwegian twin pairs born 1915-1960
Clinical Genetics
1983
227
36
Spinocerebellar ataxia: relationship between phenotype and genotype – a review
Clinical Genetics
2016
226
37
PALB2 mutations in European familial pancreatic cancer families
Clinical Genetics
2010
223
38
Primary care physicians' knowledge of and experience with pharmacogenetic testing
Clinical Genetics
2012
219
39
Insights into the pathogenesis of neurofibromatosis 1 vasculopathy
Clinical Genetics
2000
216
40
Pharmacogenetics and pharmacogenomics: why is this relevant to the clinical geneticist?
Clinical Genetics
1999
215
41
Mechanisms regulating the development of the corpus callosum and its agenesis in mouse and human
Clinical Genetics
2004
211
42
Molecular epidemiological survey of haemoglobinopathies in the Guangxi Zhuang Autonomous Region of southern China
Clinical Genetics
2010
210
43
Liquid biopsy in breast cancer: A comprehensive review
Clinical Genetics
2019
210
44
Presymptomatic and predictive genetic testing in minors: a systematic review of guidelines and position papers
Clinical Genetics
2006
209
45
Developmental programming of hypothalamic feeding circuits
Clinical Genetics
2006
208
46
CHD7
mutations in patients initially diagnosed with Kallmann syndrome – the clinical overlap with CHARGE syndrome
Clinical Genetics
2009
208
47
Dyskeratosis congenita: a genetic disorder of many faces
Clinical Genetics
2008
206
48
MicroRNAs in development and disease
Clinical Genetics
2008
206
49
Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole‐exome sequencing as a first‐line diagnostic test
Clinical Genetics
2016
205
50
The natural history of sclerosteosis
Clinical Genetics
2003
199
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