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RASopathy Biorepository
Clinical Trial ID NCT04395495
PubWeight™ 0.00
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🔗 Visit the ClinicalTrials.gov page for NCT04395495
Top papers
Rank
Title
Journal
Year
PubWeight™
‹?›
1
The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation.
Curr Opin Genet Dev
2009
5.53
2
Pathological roles of MAPK signaling pathways in human diseases.
Biochim Biophys Acta
2010
4.99
3
Deregulated Ras signaling in developmental disorders: new tricks for an old dog.
Curr Opin Genet Dev
2007
1.48
4
BRAF and RAS Mutations in Sporadic and Secondary Pyogenic Granuloma.
J Invest Dermatol
2016
1.45
5
A RASopathy gene commonly mutated in cancer: the neurofibromatosis type 1 tumour suppressor.
Nat Rev Cancer
2015
1.40
6
Autism spectrum disorder and other neurobehavioural comorbidities in rare disorders of the Ras/MAPK pathway.
Dev Med Child Neurol
2017
1.39
7
Recent advances in RASopathies.
J Hum Genet
2015
1.05
8
Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes.
Br J Cancer
2015
0.93
9
Behavioral profile in RASopathies.
Am J Med Genet A
2014
0.84
10
Perinatal features of the RASopathies: Noonan syndrome, cardiofaciocutaneous syndrome and Costello syndrome.
Am J Med Genet A
2014
0.83
11
Cardiomyopathies in Noonan syndrome and the other RASopathies.
Prog Pediatr Cardiol
2015
0.82
12
BRAF gene: From human cancers to developmental syndromes.
Saudi J Biol Sci
2014
0.81
13
Malignancy in Noonan syndrome and related disorders.
Clin Genet
2015
0.77
14
New Mutations Associated with Rasopathies in a Central European Population and Genotype-Phenotype Correlations.
Ann Hum Genet
2015
0.77
15
Response to long-term growth hormone therapy in patients affected by RASopathies and growth hormone deficiency: Patterns of growth, puberty and final height data.
Am J Med Genet A
2015
0.75
16
Constitutional bone impairment in Noonan syndrome.
Am J Med Genet A
2017
0.75
17
Pathogenetics of the RASopathies.
Hum Mol Genet
2016
0.75
18
RASopathies Are Associated With Delayed Puberty; Are They Associated With Precocious Puberty Too?
Pediatrics
2016
0.75
19
Cardiac Manifestations and Associations with Gene Mutations in Patients Diagnosed with RASopathies.
Pediatr Cardiol
2016
0.75
20
Nutritional aspects of Noonan syndrome and Noonan-related disorders.
Am J Med Genet A
2016
0.75
21
Behavioral functioning in cardiofaciocutaneous syndrome: Risk factors and impact on parenting experience.
Am J Med Genet A
2016
0.75
22
Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines.
J Med Genet
2015
0.75
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