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Institute of Medical Genetics
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top-articles
Institute of Medical Genetics
18
(top 2%)
papers
607
(top 2%)
citations
12
(top 2%)
h
-index
16
(top 2%)
g
-index
18
all documents
634
doc citations
349
citing journals
Top Articles
#
Title
Journal
Year
Citations
1
Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of
K
abuki Syndrome Patients
Human Mutation
2014
87
2
Towards a European consensus for reporting incidental findings during clinical NGS testing
European Journal of Human Genetics
2015
85
3
Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour
Human Molecular Genetics
2008
76
4
A current approach to heart failure in Duchenne muscular dystrophy
Heart
2017
75
5
MLH1 and MSH2 constitutinal mutations in colorectal cancer families not meeting the standard criteria for hereditary nonpolyposis colorectal cancer
1998
50
6
BRCA1-Related Malignancies in a Family Presenting with von Recklinghausen's Disease
Gynecologic Oncology
2002
39
7
Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization
Human Mutation
2015
39
8
Respiratory failure in infants due to spinal muscular atrophy with respiratory distress type 1
Intensive Care Medicine
2006
33
9
Clinical, neurophysiological and pathological findings of HNPP patients with 17p12 deletion: A single-centre experience
Journal of the Neurological Sciences
2014
32
10
Assessment of pathogenicity criteria for constitutional missense mutations of the hereditary nonpolyposis colorectal cancer genes MLH1 and MSH2
European Journal of Human Genetics
1999
31
11
A novel
C2orf37
mutation causes the first Italian cases of Woodhouse Sakati syndrome
Clinical Genetics
2010
27
12
Correlation between mutations and mRNA expression of APC and MUTYH genes: new insight into hereditary colorectal polyposis predisposition
Journal of Experimental and Clinical Cancer Research
2015
19
13
Lim Mineralization Protein 3 Induces the Osteogenic Differentiation of Human Amniotic Fluid Stromal Cells through Kruppel-Like Factor-4 Downregulation and Further Bone-Specific Gene Expression
Journal of Biomedicine and Biotechnology
2012
16
14
Bradeion (
SEPT4
) as a Urinary Marker of Transitional Cell Bladder Cancer: A Real-Time Polymerase Chain Reaction Study of Gene Expression
Journal of Urology
2012
10
15
Expanding the spectrum of rearrangements involving chromosome 19: A mild phenotype associated with a 19p13.12–p13.13 deletion
American Journal of Medical Genetics, Part A
2012
8
16
Inherited neuropathies and deafness caused by a PMP22 point mutation: a case report and a review of the literature
Neurological Sciences
2013
6
17
Excitatory amino acid stimulation of the survival of rat cerebellar granule cells in culture is associated with an increase in SMN, the spinal muscular atrophy disease gene product
Amino Acids
2000
1
18
The Intestinal Polyposes: Clinical and Molecular Overview
2016
0
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