| 1 |
Costello syndrome: Clinical phenotype, genotype, and management guidelines.
38
|
Gripp KW...Rauen KA
|
31222966
|
2019 |
| 2 |
Mutations in RABL3 alter KRAS prenylation and are associated with hereditary pancreatic cancer.
38
|
Nissim S...Goessling W
|
31406347
|
2019 |
| 3 |
Intestinal tumors in neurofibromatosis 1 with special reference to fatal gastrointestinal stromal tumors (GIST).
38
|
Yla-Outinen H...Peltonen J
|
31397088
|
2019 |
| 4 |
Severe Noonan syndrome phenotype associated with a germline Q71R MRAS variant: a recurrent substitution in RAS homologs in various cancers.
38
|
Suzuki H...Kosaki K
|
31173466
|
2019 |
| 5 |
Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy.
38
|
Motta M...De Luca A
|
31059601
|
2019 |
| 6 |
Antenatal diagnosis of cardio-facio-cutaneous syndrome: Prenatal characteristics and contribution of fetal facial dysmorphic signs in utero. About a case and review of literature.
38
|
Biard JM...Sznajer Y
|
31336229
|
2019 |
| 7 |
Pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: the multifaceted consequences of PTPN11 mutations.
38
|
Calcagni G...Tartaglia M
|
31277675
|
2019 |
| 8 |
Cardiac transplantation in children with Noonan syndrome.
38
|
McCallen LM...Chatfield KC
|
31259454
|
2019 |
| 9 |
Structural basis of the atypical activation mechanism of KRAS V14I.
38
|
Bera AK...Westover KD
|
31341022
|
2019 |
| 10 |
Xia-Gibbs syndrome in adulthood: a case report with insight into the natural history of the condition.
38
|
Murdock DR...Gibbs RA
|
30622101
|
2019 |
| 11 |
Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome.
38
|
Capri Y...Zenker M
|
31130282
|
2019 |
| 12 |
Cardiac Manifestations of Noonan Syndrome.
38
|
Karnik R...Geiger M
|
31115199
|
2019 |
| 13 |
NF1 Somatic Mutation in Dystrophic Scoliosis.
38
|
Margraf RL...Stevenson DA
|
30778836
|
2019 |
| 14 |
A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External Genitalia
38
|
Isik E...Ozkinay F
|
31088041
|
2019 |
| 15 |
Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy.
38
|
Motta M...Zenker M
|
31108500
|
2019 |
| 16 |
Increased nuchal translucency: results from microarray and RASopathy disorders testing.
38
|
Sinajon P...Chong K
|
31115076
|
2019 |
| 17 |
Prenatal ultrasound findings of rasopathies in a cohort of 424 fetuses: update on genetic testing in the NGS era.
38
|
Stuurman KE...Rinne T
|
31040167
|
2019 |
| 18 |
Prevalence of pathogenic and likely pathogenic variants in the RASopathy genes in patients who have had panel testing for cardiomyopathy.
38
|
Aljeaid D...Zhang W
|
30762279
|
2019 |
| 19 |
The Noonan Syndrome-linked Raf1L613V mutation drives increased glial number in the mouse cortex and enhanced learning.
38
|
Holter MC...Newbern JM
|
31017896
|
2019 |
| 20 |
Clinical presentation and survival of childhood hypertrophic cardiomyopathy: a retrospective study in United Kingdom.
38
|
Norrish G...Kaski JP
|
30535072
|
2019 |
| 21 |
Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling.
38
|
Motta M...Tartaglia M
|
30481304
|
2019 |
| 22 |
Clinical and mutation profile of pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: results from a Chinese cohort.
38
|
Chen H...Fu L
|
30732632
|
2019 |
| 23 |
A postzygotic KRAS mutation in a patient with Schimmelpenning syndrome presenting with lipomatosis, renovascular hypertension, and diabetes mellitus.
38
|
Nagatsuma M...Morio T
|
30443000
|
2019 |
| 24 |
Embryonal rhabdomyosarcoma in a patient with a germline CBL pathogenic variant.
38
|
Ji J...Biegel JA
|
30803559
|
2019 |
| 25 |
M-Ras/Shoc2 signaling modulates E-cadherin turnover and cell-cell adhesion during collective cell migration.
38
|
Kota P...Morrison DK
|
30808747
|
2019 |
| 26 |
Papular nevus spilus syndrome: old and new aspects of a mosaic RASopathy.
38
|
Torchia D...Happle R
|
30827948
|
2019 |
| 27 |
RASopathy in Patients With Isolated Sagittal Synostosis.
38
|
Davis AA...Nischal KK
|
31192281
|
2019 |
| 28 |
Co-occurrence of Noonan and Cardiofaciocutaneous Syndrome Features in a Patient with KRAS Variant.
38
|
Rodriguez F...Aracena M
|
30430033
|
2018 |
| 29 |
MRAS: A Close but Understudied Member of the RAS Family.
38
|
Young LC...Rodriguez-Viciana P
|
29311130
|
2018 |
| 30 |
Atypical presentation of pediatric BRAF RASopathy with acute encephalopathy.
38
|
Pezzani L...Iascone M
|
30462361
|
2018 |
| 31 |
RAS GTPase-dependent pathways in developmental diseases: old guys, new lads, and current challenges.
38
|
Bustelo XR...Rodriguez-Fdez S
|
30007125
|
2018 |
| 32 |
ClinGen's RASopathy Expert Panel consensus methods for variant interpretation.
38
|
Gelb BD...ClinGen RASopathy Working Group
|
29493581
|
2018 |
| 33 |
Assessing the gene-disease association of 19 genes with the RASopathies using the ClinGen gene curation framework.
38
|
Grant AR...Zenker M
|
30311384
|
2018 |
| 34 |
Cardiovascular disease in Noonan syndrome.
38
|
Pierpont ME...Digilio MC
|
30024444
|
2018 |
| 35 |
The RASopathy Family: Consequences of Germline Activation of the RAS/MAPK Pathway.
38
|
Tajan M...Yart A
|
29924299
|
2018 |
| 36 |
Reclassification of the BRAF p.Ile208Val variant by case-level data sharing.
38
|
Grant AR...Rehm HL
|
29945942
|
2018 |
| 37 |
Cutaneous Skeletal Hypophosphatemia Syndrome in Association with a Mosaic HRAS Mutation.
38
|
Park PG...Cheong HI
|
30373874
|
2018 |
| 38 |
RAS signalling in energy metabolism and rare human diseases.
38
|
Dard L...Rossignol R
|
29750912
|
2018 |
| 39 |
Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients.
38
|
Levin MD...Lin AE
|
30055033
|
2018 |
| 40 |
Systemic lupus erythematosus in a patient with Noonan syndrome-like disorder with loose anagen hair 1: More than a chance association.
38
|
Uehara T...Kosaki K
|
29737035
|
2018 |
| 41 |
A sibling pair with cardiofaciocutaneous syndrome (CFC) secondary to BRAF mutation with unaffected parents-the first cases of gonadal mosaicism in CFC?
38
|
Geoghegan S...O'Connell SM
|
29704308
|
2018 |
| 42 |
NGS testing for cardiomyopathy: Utility of adding RASopathy-associated genes.
38
|
Ceyhan-Birsoy O...Mason-Suares H
|
29696744
|
2018 |
| 43 |
When and why is surgical revascularization indicated for the treatment of moyamoya syndrome in patients with RASopathies? A systematic review of the literature and a single institute experience.
38
|
Scala M...Pavanello M
|
29797062
|
2018 |
| 44 |
Genetic burden and associations with adverse neurodevelopment in neonates with congenital heart disease.
38
|
Blue GM...Winlaw DS
|
29910053
|
2018 |
| 45 |
MAP2K2 mutation as a cause of cardio-facio-cutaneous syndrome in an infant with a severe and fatal course of the disease.
38
|
Gos M...Bal J
|
29799162
|
2018 |
| 46 |
Characteristic MR Imaging Findings of the Neonatal Brain in RASopathies.
38
|
Cizmeci MN...de Vries LS
|
29622558
|
2018 |
| 47 |
RASopathies are associated with a distinct personality profile.
38
|
Bizaoui V...Weiss LA
|
29659143
|
2018 |
| 48 |
Clinical Presentation and Natural History of Hypertrophic Cardiomyopathy in RASopathies.
38
|
Calcagni G...Marino B
|
29525650
|
2018 |
| 49 |
Mek1Y130C mice recapitulate aspects of human cardio-facio-cutaneous syndrome.
38
|
Aoidi R...Charron J
|
29590634
|
2018 |
| 50 |
Suppression of RAC1-driven malignant melanoma by group A PAK inhibitors.
38
|
Araiza-Olivera D...Chernoff J
|
29059171
|
2018 |
