| 1 |
Compound heterozygosity for PTPN11 variants in a subject with Noonan syndrome provides insights into the mechanism of SHP2-related disorders.
61
|
Lorca R...Martinelli S
|
33354767 |
2021 |
| 2 |
Senescence in RASopathies, a possible novel contributor to a complex pathophenoype.
61
|
Engler M...Cirstea IC
|
33309600 |
2021 |
| 3 |
MEK inhibitors in RASopathies.
61
|
Bergqvist C...Wolkenstein P
|
33395032 |
2021 |
| 4 |
Ras/MAPK dysregulation in development causes a skeletal myopathy in an activating BrafL597V mouse model for cardio-facio-cutaneous syndrome.
61
|
Maeda Y...Rauen KA
|
33522658 |
2021 |
| 5 |
The ERK mitogen-activated protein kinase signaling network: the final frontier in RAS signal transduction.
61
|
Klomp JE...Der CJ
|
33544118 |
2021 |
| 6 |
When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort.
61
|
Scott A...De Luca A
|
33568805 |
2021 |
| 7 |
A Leucine Rich Repeat Protein Provides a SHOC2 the RAS Circuit: A Structure-Function Perspective.
61
|
Kwon JJ...Hahn WC
|
33526449 |
2021 |
| 8 |
Bilateral Nephroblastic Tumors and a Complex Renal Vascular Anomaly in a Patient With a Mosaic RASopathy: Novel Histopathologic Features and Molecular Insights.
61
|
Slack JC...Kurek KC
|
33538228 |
2021 |
| 9 |
A genotype-first approach to exploring Mendelian cardiovascular traits with clear external manifestations.
61
|
Wenger BM...Gelb BD
|
32989268 |
2021 |
| 10 |
Chiari I malformation in patients with RASopathies.
61
|
Han Y...Wang H
|
33409618 |
2021 |
| 11 |
Myelomonocytic skewing in chronic myelomonocytic leukemia: phenotypic, molecular and biologic features and impact on survival.
61
|
Geissler K...Valent P
|
33432601 |
2021 |
| 12 |
Moyamoya syndrome in a child with Legius syndrome: Introducing a cerebral vasculopathy to the SPRED1 phenotype?
61
|
Pabst L...Truxal KV
|
33078527 |
2021 |
| 13 |
Genomics of myelodysplastic syndrome/myeloproliferative neoplasm overlap syndromes.
61
|
Patnaik MM...Lasho TL
|
33275756 |
2020 |
| 14 |
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes.
61
|
Provenzano A...Giglio S
|
33337535 |
2020 |
| 15 |
Classification of aplasia cutis congenita: a 25-year review of cases presenting to a tertiary paediatric dermatology department.
61
|
Sathishkumar D...Moss C
|
32501579 |
2020 |
| 16 |
Hyperinsulinemic Hypoglycemia in a Patient with Costello Syndrome: An Etiology to Consider in Hypoglycemia.
61
|
Vuralli D...Alikasifoglu M
|
33224014 |
2020 |
| 17 |
The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects.
61
|
Gripp KW...Rosenberger G
|
32499600 |
2020 |
| 18 |
RASopathies: A significant cause of polyhydramnios?
61
|
Mangels R...Hudgins L
|
33150592 |
2020 |
| 19 |
KrasP34R and KrasT58I mutations induce distinct RASopathy phenotypes in mice.
61
|
Wong JC...Shannon K
|
32990679 |
2020 |
| 20 |
Association between ARID2 and RAS-MAPK pathway in intellectual disability and short stature.
61
|
Kang E...Lee BH
|
33051312 |
2020 |
| 21 |
The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered.
61
|
Brinkmann J...Zenker M
|
33082526 |
2020 |
| 22 |
Clinical and molecular spectra of BRAF-associated RASopathy.
61
|
Lee Y...Lee BH
|
33040082 |
2020 |
| 23 |
Haploinsufficiency of RREB1 causes a Noonan-like RASopathy via epigenetic reprogramming of RAS-MAPK pathway genes.
61
|
Kent OA...Rottapel R
|
32938917 |
2020 |
| 24 |
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.
61
|
Motta M...Tartaglia M
|
32721402 |
2020 |
| 25 |
Pediatric Myelodysplastic Syndrome With Germline RRAS Mutation: Expanding the Phenotype of RASopathies.
61
|
Catts DS...Whiteway SL
|
32815881 |
2020 |
| 26 |
Preventative Effect of Mebendazole against Malignancies in Neurofibromatosis 1.
61
|
Staedtke V...Bai RY
|
32650362 |
2020 |
| 27 |
Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy.
61
|
Motta M...Zenker M
|
31108500 |
2020 |
| 28 |
Germline and sporadic cancers driven by the RAS pathway: parallels and contrasts.
61
|
Dunnett-Kane V...Lindsay CR
|
32240795 |
2020 |
| 29 |
Atypical cardiac defects in patients with RASopathies: Updated data on CARNET study.
61
|
Calcagni G...Versacci P
|
32558384 |
2020 |
| 30 |
GTP hydrolysis is modulated by Arg34 in the RASopathy-associated KRASP34R.
61
|
Bera AK...Westover KD
|
32187889 |
2020 |
| 31 |
Juvenile myelomonocytic leukemia - A bona fide RASopathy syndrome.
61
|
Lasho T...Patnaik MM
|
32460983 |
2020 |
| 32 |
Localized Hypertrophic Neuropathy as a Neoplastic Manifestation of KRAS-Mediated RASopathy.
61
|
Vizcaino MA...Rodriguez FJ
|
32388560 |
2020 |
| 33 |
Correlation of RAS-Pathway Mutations and Spontaneous Myeloid Colony Growth with Progression and Transformation in Chronic Myelomonocytic Leukemia-A Retrospective Analysis in 337 Patients.
61
|
Geissler K...Valent P
|
32344757 |
2020 |
| 34 |
Advancing RAS/RASopathy therapies: An NCI-sponsored intramural and extramural collaboration for the study of RASopathies.
61
|
Gross AM...Yohe ME
|
31913576 |
2020 |
| 35 |
Expanding the Noonan spectrum/RASopathy NGS panel: Benefits of adding NF1 and SPRED1.
61
|
Witkowski L...Mason-Suares H
|
32107864 |
2020 |
| 36 |
A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External Genitalia
61
|
Isik E...Ozkinay F
|
31088041 |
2020 |
| 37 |
Microarray and RASopathy-disorder testing in fetuses with increased nuchal translucency.
61
|
Sinajon P...Chong K
|
31115076 |
2020 |
| 38 |
Increased nuchal translucency: diagnostic value of RASopathy-disorder testing.
61
|
Xu LL...Li DZ
|
32115807 |
2020 |
| 39 |
The sixth international RASopathies symposium: Precision medicine-From promise to practice.
61
|
Gripp KW...Ratner N
|
31825160 |
2020 |
| 40 |
Providing more evidence on LZTR1 variants in Noonan syndrome patients.
61
|
Chinton J...Obregon MG
|
31825158 |
2020 |
| 41 |
Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan.
61
|
Lee CL...Lin SP
|
31837205 |
2020 |
| 42 |
Mutational spectrum by phenotype: panel-based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café-au-lait macules.
61
|
Castellanos E...Serra E
|
31573083 |
2020 |
| 43 |
Autism Spectrum Disorder Symptom Profile Across the RASopathies.
61
|
Geoffray MM...Garg S
|
33519543 |
2020 |
| 44 |
NRAS associated RASopathy and embryonal rhabdomyosarcoma.
61
|
Garren B...Hogue JS
|
31697451 |
2020 |
| 45 |
Biochemical and structural analyses reveal that the tumor suppressor neurofibromin (NF1) forms a high-affinity dimer.
61
|
Sherekar M...Esposito D
|
31836666 |
2020 |
| 46 |
First case report of tongue squamous cell carcinoma in a neurofibromatosis type 1 patient and review of pathogenesis of carcinoma in neurofibromatosis type 1.
61
|
Ghose S...Mazumdar A
|
32031137 |
2020 |
| 47 |
[Allele-specific inhibitors of mutant KRAS are in the focus of RASopathy consortium].
61
|
Nyiri K...Timar J
|
31821386 |
2019 |
| 48 |
Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.
61
|
Kanavy DM...Berg JS
|
31783775 |
2019 |
| 49 |
The impact of RASopathy-associated mutations on CNS development in mice and humans.
61
|
Kang M...Lee YS
|
31752929 |
2019 |
| 50 |
Clinical and molecular characterization of children with Noonan syndrome and other RASopathies in Argentina.
61
|
Chinton J...Obregon MG
|
31560489 |
2019 |
