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top-articles
Medical Genetics
33
(top 2%)
papers
1.9K
(top 1%)
citations
20
(top 1%)
h
-index
33
(top 2%)
g
-index
33
all documents
2.0K
doc citations
739
citing journals
Top Articles
#
Title
Journal
Year
Citations
1
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies
Nature Genetics
2010
445
2
Genetic Structure of Europeans: A View from the North–East
PLoS ONE
2009
279
3
Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history ofMYH9-related disease
Human Mutation
2008
172
4
Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies
Nature Genetics
2011
148
5
Cigarette toxicity triggers Leber’s hereditary optic neuropathy by affecting mtDNA copy number, oxidative phosphorylation and ROS detoxification pathways
Cell Death and Disease
2015
107
6
Heavy chain myosin 9-related disease (MYH9-RD): Neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder
Thrombosis and Haemostasis
2010
81
7
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype
European Journal of Human Genetics
2010
71
8
Hearing function and thresholds: a genome-wide association study in European isolated populations identifies new loci and pathways
Journal of Medical Genetics
2011
71
9
Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity
European Journal of Human Genetics
2013
64
10
Enrichment of low-frequency functional variants revealed by whole-genome sequencing of multiple isolated European populations
Nature Communications
2017
64
11
Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations
Haematologica
2007
53
12
Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion
Brain
2016
51
13
Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations
Journal of Medical Genetics
2007
47
14
Does epidermal thickening explain GJB2 high carrier frequency and heterozygote advantage?
European Journal of Human Genetics
2009
35
15
Influence of age, sex and ethnicity on platelet count in five Italian geographic isolates: mild thrombocytopenia may be physiological
British Journal of Haematology
2012
33
16
MYH9
related disease: four novel mutations of the tail domain of myosin‐9 correlating with a mild clinical phenotype
European Journal of Haematology
2010
32
17
Salt-inducible kinase 3, SIK3, is a new gene associated with hearing
Human Molecular Genetics
2014
30
18
Molecular epidemiology of Usher syndrome in Italy
Molecular Vision
2011
27
19
A novel Leu153Ser mutation of the Fanconi anemia FANCD2 gene is associated with severe chemotherapy toxicity in a pediatric T-cell acute lymphoblastic leukemia
Leukemia
2007
21
20
Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant
Orphanet Journal of Rare Diseases
2013
21
21
Expression and association data strongly support JARID2 involvement in nonsyndromic cleft lip with or without cleft palate
Human Mutation
2010
19
22
Age-related hearing loss in four Italian genetic isolates: An epidemiological study
International Journal of Audiology
2009
17
23
Gene-educational attainment interactions in a multi-ancestry genome-wide meta-analysis identify novel blood pressure loci
Molecular Psychiatry
2020
17
24
Identification of the first duplication in MYH9-related disease: A hot spot for unequal crossing-over within exon 24 of the MYH9 gene
European Journal of Medical Genetics
2009
16
25
Frequency of hearing loss in a series of rural communities of five developing countries located along the Silk Road
Audiological Medicine
2011
15
26
Association of a variant in the CHRNA5-A3-B4 gene cluster region to heavy smoking in the Italian population
European Journal of Human Genetics
2011
13
27
MYH9
related disease: A novel missense Ala95Asp mutation of the
MYH9
gene
Platelets
2009
10
28
A
CASQ1
founder mutation in three Italian families with protein aggregate myopathy and hyperCKaemia
Journal of Medical Genetics
2015
10
29
Genome Wide Association Analysis of a Founder Population Identified TAF3 as a Gene for MCHC in Humans
PLoS ONE
2013
9
30
MYH9-related disease: Report on five German families and description of a novel mutation
Annals of Hematology
2010
8
31
Investigation of
MYH14
as a candidate gene in cleft lip with or without cleft palate
European Journal of Oral Sciences
2008
4
32
Absence of CYCS mutations in a large Italian cohort of patients with inherited thrombocytopenias of unknown origin
Platelets
2009
4
33
Deciphering the pathogenesis of the COL4‐related hematuric nephritis: A genotype/phenotype study
Molecular Genetics & Genomic Medicine
2021
2
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