|
| 37324589 | The recurrent pathogenic Pro890Leu substitution in CLTC causes a generalized defect in synaptic transmission in . | | 2023 |
| 37632268 | GNAO1 Haploinsufficiency: The Milder End of the GNAO1 Phenotypic Spectrum. | | 2023 |
| 37772301 | Improvement of Movement Disorder and Neurodevelopment under Selegiline in a CLTC-Deficient Patient. | | 2023 |
| 36833246 | Phenotypic Assessment of Pathogenic Variants in and Response to Caffeine in Models of the Disease. | | 2023 |
| 37142469 | GNAO1-related movement disorder: An update on phenomenology, clinical course, and response to treatments. | Parkinsonism Relat Disord | 2023 |
| 35157921 | Mutations at the C-terminus of CDC42 cause distinct hematopoietic and autoinflammatory disorders. | Journal of Allergy and Clinical Immunology | 2022 |
| 35396703 | SHP2's gain-of-function in Werner syndrome causes childhood disease onset likely resulting from negative genetic interaction. | Clin Genet | 2022 |
| 35581417 | "Atypical" Krabbe disease in two siblings harboring biallelic GALC mutations including a deep intronic variant. | Eur J Hum Genet | 2022 |
| 36003298 | Motor, epileptic, and developmental phenotypes in genetic disorders affecting G protein coupled receptors-cAMP signaling. | Frontiers in Neurology | 2022 |
| 33323470 | Functional analysis of <i>TLK2</i> variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis. | J Med Genet | 2022 |
| 34622282 | Caenorhabditis elegans provides an efficient drug screening platform for GNAO1-related disorders and highlights the potential role of caffeine in controlling dyskinesia. | Hum Mol Genet | 2022 |
| 34718610 | Gain of Function of Malate Dehydrogenase 2 and Familial Hyperglycemia. | J Clin Endocrinol Metab | 2022 |
| 34382076 | De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus. | Brain | 2022 |
| 34429473 | C. elegans-based chemosensation strategy for the early detection of cancer metabolites in urine samples. | Scientific Reports | 2021 |
| 33515856 | Co-occurring SYNJ1 and SHANK3 variants in a girl with intellectual disability, early-onset parkinsonism and catatonic episodes. | Parkinsonism and Related Disorders | 2021 |
| 34346503 | Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings. | Clinical Genetics | 2021 |
| 32747439 | Biallelic mutations in the gene cause a novel primary ciliopathy. | Journal of Medical Genetics | 2021 |
| 33354767 | Compound heterozygosity for PTPN11 variants in a subject with Noonan syndrome provides insights into the mechanism of SHP2-related disorders. | Clinical Genetics | 2021 |
| 34714648 | Targeting Oncogenic Src Homology 2 Domain-Containing Phosphatase 2 (SHP2) by Inhibiting Its Protein-Protein Interactions. | Journal of Medicinal Chemistry | 2021 |
| 32721402 | Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum. | Am J Hum Genet | 2020 |
| 32120303 | Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism. | Parkinsonism and Related Disorders | 2020 |
| 32112654 | Pathogenic PTPN11 variants involving the poly-glutamine Gln<sup>255</sup> -Gln<sup>256</sup> -Gln<sup>257</sup> stretch highlight the relevance of helix B in SHP2's functional regulation. | Hum Mutat | 2020 |
| 31601675 | A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function. | J Exp Med | 2019 |
| 29525650 | Clinical Presentation and Natural History of Hypertrophic Cardiomyopathy in RASopathies. | Heart Fail Clin | 2018 |
| 29959261 | Biallelic <i>SQSTM1</i> mutations in early-onset, variably progressive neurodegeneration. | Neurology | 2018 |
| 29394990 | Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes. | Am J Hum Genet | 2018 |
| 28074573 | Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome. | Hum Mutat | 2017 |
| 29100083 | High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. | Am J Hum Genet | 2017 |
| 26173643 | Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome. | Hum Mutat | 2015 |
| 25952305 | Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations. | Hum Mutat | 2015 |
| 24891296 | A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype. | Am J Med Genet A | 2014 |
| 24705357 | Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis. | Hum Mol Genet | 2014 |
| 22117197 | Therapeutic targeting of Chk1 in NSCLC stem cells during chemotherapy. | Cell Death and Differentiation | 2012 |
| 22834886 | Loss of CBL E3-ligase activity in B-lineage childhood acute lymphoblastic leukaemia. | Br J Haematol | 2012 |
| 22711529 | Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome. | J Biol Chem | 2012 |
| 21106241 | Germline PTPN11 mutation affecting exon 8 in a case of syndromic juvenile myelomonocytic leukemia. | Leukemia Research | 2011 |
| 21463688 | Efficient one-step chromatographic purification and functional characterization of recombinant human Saposin C. | Protein Expression and Purification | 2011 |
| 20619386 | Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. | Am J Hum Genet | 2010 |
| 19156172 | Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations. | European Journal of Human Genetics | 2009 |
| 19684605 | Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. | Nat Genet | 2009 |
| 19681119 | RAS signaling dysregulation in human embryonal Rhabdomyosarcoma. | Genes Chromosomes and Cancer | 2009 |
| 18362173 | Somatically acquired JAK1 mutations in adult acute lymphoblastic leukemia. | J Exp Med | 2008 |
| 18372317 | Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes. | Hum Mol Genet | 2008 |
| 17143282 | Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. | Nat Genet | 2007 |
| 17177198 | Structural and functional effects of disease-causing amino acid substitutions affecting residues Ala72 and Glu76 of the protein tyrosine phosphatase SHP-2. | Proteins: Structure, Function and Bioinformatics | 2007 |
| 17603483 | Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. | Nat Genet | 2007 |
| 16652357 | De novo pure 12q22q24.33 duplication: first report of a case with mental retardation, ADHD, and Dandy-Walker malformation. | American Journal of Medical Genetics, Part A | 2006 |
| 16631468 | Activating PTPN11 mutations play a minor role in pediatric and adult solid tumors. | Cancer Genetics and Cytogenetics | 2006 |
| 16358218 | Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. | Am J Hum Genet | 2006 |
| 15725481 | Acquired PTPN11 mutations occur rarely in adult patients with myelodysplastic syndromes and chronic myelomonocytic leukemia. | Leuk Res | 2005 |