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‐met³⁰)	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‐β₁‐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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