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| 36371959 | A bioluminescent-based probe for in vivo non-invasive monitoring of nicotinamide riboside uptake reveals a link between metastasis and NAD<sup>+</sup> metabolism. | Biosens Bioelectron | 2023 |
| 37628654 | Orofacial Clefts: Genetics of Cleft Lip and Palate. | Genes (Basel) | 2023 |
| 37709986 | Activation of the transcription factor NFAT5 in the tumor microenvironment enforces CD8<sup>+</sup> T cell exhaustion. | Nat Immunol | 2023 |
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| 37501185 | European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis. | Orphanet J Rare Dis | 2023 |
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| 37081150 | Orthogonal cytokine engineering enables novel synthetic effector states escaping canonical exhaustion in tumor-rejecting CD8<sup>+</sup> T cells. | Nat Immunol | 2023 |
| 37280206 | Neoantigen-specific CD8 T cells with high structural avidity preferentially reside in and eliminate tumors. | Nat Commun | 2023 |
| 37069267 | A lentiviral vector for the production of T cells with an inducible transgene and a constitutively expressed tumour-targeting receptor. | Nat Biomed Eng | 2023 |
| 37365619 | Real-world evidence in achondroplasia: considerations for a standardized data set. | Orphanet J Rare Dis | 2023 |
| 36896672 | The prevalence and phenotypic range associated with biallelic PKDCC variants. | Clin Genet | 2023 |
| 34479871 | Low-Dose Radiotherapy Reverses Tumor Immune Desertification and Resistance to Immunotherapy. | Cancer Discov | 2022 |
| 35342457 | Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies. | Ther Adv Musculoskelet Dis | 2022 |
| 35698202 | Literature review and expert opinion on the impact of achondroplasia on medical complications and health-related quality of life and expectations for long-term impact of vosoritide: a modified Delphi study. | Orphanet J Rare Dis | 2022 |
| 35758198 | Structure-based optimization of type III indoleamine 2,3-dioxygenase 1 (IDO1) inhibitors. | J Enzyme Inhib Med Chem | 2022 |
| 36474071 | IL-2 engineered MSCs rescue T cells in tumours. | Nat Cell Biol | 2022 |
| 36107167 | Growth parameters in children with achondroplasia: AÂ 7-year, prospective, multinational, observational study. | Genet Med | 2022 |
| 36203587 | Enforcing GLUT3 expression in CD8<sup>+</sup> T cells improves fitness and tumor control by promoting glucose uptake and energy storage. | Front Immunol | 2022 |
| 35990626 | CAR T cells targeting the ganglioside NGcGM3 control ovarian tumors in the absence of toxicity against healthy tissues. | Front Immunol | 2022 |
| 35897040 | Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations. | Orphanet J Rare Dis | 2022 |
| 35987833 | Optimising care and follow-up of adults with achondroplasia. | Orphanet J Rare Dis | 2022 |
| 35016027 | A roadmap for driving CAR TÂ cells toward the oncogenic immunopeptidome. | Cancer Cell | 2022 |
| 35045016 | Autosomal recessive EXT2 syndrome - extending the phenotypic spectrum of an emerging condition, a further case? | Clin Dysmorphol | 2022 |
| 34949530 | Automated reanalysis application to assist in detecting novel gene-disease associations after genome sequencing. | Genet Med | 2022 |
| 35064152 | A cell-based phenotypic library selection and screening approach for the de novo discovery of novel functional chimeric antigen receptors. | Sci Rep | 2022 |
| 35177119 | Correction to: Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia. | Orphanet J Rare Dis | 2022 |
| 34431071 | Pharmacokinetics and Exposure-Response of Vosoritide in Children with Achondroplasia. | Clin Pharmacokinet | 2022 |
| 34782741 | Sensitive identification of neoantigens and cognate TCRs in human solid tumors. | Nat Biotechnol | 2022 |
| 34837063 | International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia. | Nat Rev Endocrinol | 2022 |
| 33446226 | Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia. | Orphanet J Rare Dis | 2021 |
| 33545406 | Lifetime impact of achondroplasia: Current evidence and perspectives on the natural history. | Bone | 2021 |
| 33761804 | Rationale, design, and methods of a randomized, controlled, open-label clinical trial with open-label extension to investigate the safety of vosoritide in infants, and young children with achondroplasia at risk of requiring cervicomedullary decompression surgery. | Sci Prog | 2021 |
| 33637067 | A hemizygous mutation in the FOXP3 gene (IPEX syndrome) resulting in recurrent X-linked fetal hydrops: a case report. | BMC Med Genomics | 2021 |
| 33557523 | Azole-Based Indoleamine 2,3-Dioxygenase 1 (IDO1) Inhibitors. | J Med Chem | 2021 |
| 33689297 | Probing the Conformational Dynamics of Affinity-Enhanced T Cell Receptor Variants upon Binding the Peptide-Bound Major Histocompatibility Complex by Hydrogen/Deuterium Exchange Mass Spectrometry. | Biochemistry | 2021 |
| 33605604 | Automated reanalysis, a novel way to diagnose an ultra-rare condition: Fibronectin-1-related spondylometaphyseal dysplasia (SMD-FN1). | Clin Dysmorphol | 2021 |
| 34930956 | Evidence of feedback regulation of C-type natriuretic peptide during Vosoritide therapy in Achondroplasia. | Sci Rep | 2021 |
| 34758253 | 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report. | N Engl J Med | 2021 |
| 34662233 | Choosing the Right Tool for Genetic Engineering: Clinical Lessons from Chimeric Antigen Receptor-T Cells. | Hum Gene Ther | 2021 |
| 34627339 | Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia. | Orphanet J Rare Dis | 2021 |
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| 34389616 | VEGFR-2 redirected CAR-T cells are functionally impaired by soluble VEGF-A competition for receptor binding. | J Immunother Cancer | 2021 |
| 34016807 | KIAA0753-related skeletal ciliopathy: a ninth case, extending the phenotype and reporting a novel variant. | Clin Dysmorphol | 2021 |
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| 34289354 | Cell-autonomous inflammation of BRCA1-deficient ovarian cancers drives both tumor-intrinsic immunoreactivity and immune resistance via STING. | Cell Rep | 2021 |
| 34332609 | The first European consensus on principles of management for achondroplasia. | Orphanet J Rare Dis | 2021 |