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| 36891860 | The beam transport system for the Small Quantum Systems instrument at the European XFEL: optical layout and first commissioning results. | J Synchrotron Radiat | 2023 |
| 37598215 | APOGEE 2: multi-layer machine-learning model for the interpretable prediction of mitochondrial missense variants. | Nat Commun | 2023 |
| 37714859 | Multiple-core-hole resonance spectroscopy with ultraintense X-ray pulses. | Nat Commun | 2023 |
| 37799711 | Isotope effects in dynamics of water isotopologues induced by core ionization at an x-ray free-electron laser. | Struct Dyn | 2023 |
| 37656857 | Generation of Large Vortex-Free Superfluid Helium Nanodroplets. | Phys Rev Lett | 2023 |
| 37895307 | Identification of a Novel <i>FOXP1</i> Variant in a Patient with Hypotonia, Intellectual Disability, and Severe Speech Impairment. | Genes (Basel) | 2023 |
| 37846557 | Integrative CUT&Tag-RNA-Seq analysis of histone variant macroH2A1-dependent orchestration of human induced pluripotent stem cell reprogramming. | Epigenomics | 2023 |
| 37543647 | The ubiquitin ligase TRIM32 promotes the autophagic response to Mycobacterium tuberculosis infection in macrophages. | Cell Death Dis | 2023 |
| 37477497 | Early genetic analysis by next-generation sequencing improves diagnosis of primary ciliary dyskinesia. | Pediatr Pulmonol | 2023 |
| 37332652 | Dystonia as Presenting Feature of Compound Heterozygous PMPCA Gene Variants. | Mov Disord Clin Pract | 2023 |
| 37163304 | Harmonic radiation contribution and X-ray transmission at the Small Quantum Systems instrument of European XFEL. | J Synchrotron Radiat | 2023 |
| 36788019 | Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome. | J Med Genet | 2023 |
| 36599940 | Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome. | Eur J Hum Genet | 2023 |
| 36757675 | Further case of enlarged spinal nerve roots in KRAS-related Noonan syndrome. | Clin Genet | 2023 |
| 36562987 | Controlling Fragmentation of the Acetylene Cation in the Vacuum Ultraviolet via Transient Molecular Alignment. | J Phys Chem Lett | 2023 |
| 36562080 | circPVT1 and PVT1/AKT3 show a role in cell proliferation, apoptosis, and tumor subtype-definition in small cell lung cancer. | Genes Chromosomes Cancer | 2023 |
| 34085948 | Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study. | J Med Genet | 2022 |
| 35774515 | RhythmicDB: A Database of Predicted Multi-Frequency Rhythmic Transcripts. | Front Genet | 2022 |
| 35511867 | Histone Variant macroH2A1.1 Enhances Nonhomologous End Joining-dependent DNA Double-strand-break Repair and Reprogramming Efficiency of Human iPSCs. | Stem Cells | 2022 |
| 35511008 | High-resolution electron time-of-flight spectrometers for angle-resolved measurements at the SQS Instrument at the European XFEL. | J Synchrotron Radiat | 2022 |
| 35583122 | MiRLog and dbmiR: Prioritization and functional annotation tools to study human microRNA sequence variants. | Hum Mutat | 2022 |
| 35581385 | Genome-wide DNA methylation profiling and exome sequencing resolved a long-time misdiagnosed case. | J Hum Genet | 2022 |
| 35571479 | Real-time, computer-aided, detection-assisted colonoscopy eliminates differences in adenoma detection rate between trainee and experienced endoscopists. | Endosc Int Open | 2022 |
| 35664237 | Beyond COVID-19 pandemic: Topology-aware optimization of vaccination strategy for minimizing virus spreading. | Comput Struct Biotechnol J | 2022 |
| 35692095 | Disease spreading modeling and analysis: a survey. | Brief Bioinform | 2022 |
| 35782738 | KDM6A missense variants hamper H3 histone demethylation in lung squamous cell carcinoma. | Comput Struct Biotechnol J | 2022 |
| 35487478 | Contribution of rare variants in monogenic diabetes-genes to early-onset type 2 diabetes. | Diabetes Metab | 2022 |
| 35620871 | Hereditary hemorrhagic telangiectasia: First demonstration of a founder effect in Italy; the ACVRL1 c.289_294del variant originated in the country of Bergamo 200â¿¿years ago. | Mol Genet Genomic Med | 2022 |
| 35745182 | Adherence to Gluten-Free Diet Restores Alpha Diversity in Celiac People but the Microbiome Composition Is Different to Healthy People. | Nutrients | 2022 |
| 36438625 | Connecting the dots: A practical evaluation of web-tools for describing protein dynamics as networks. | Front Bioinform | 2022 |
| 36428997 | Upregulation of YKL-40 Promotes Metastatic Phenotype and Correlates with Poor Prognosis and Therapy Response in Patients with Colorectal Cancer. | Cells | 2022 |
| 36419418 | Antimicrobial activity of bovine lactoferrin against <i>Gardnerella</i> species clinical isolates. | Front Microbiol | 2022 |
| 35910214 | Case Report: A Novel Homozygous Missense Variant of <i>FBN3</i> Supporting It Is a New Candidate Gene Causative of a Bardet-Biedl Syndrome-Like Phenotype. | Front Genet | 2022 |
| 36342321 | Investigating charge-up and fragmentation dynamics of oxygen molecules after interaction with strong X-ray free-electron laser pulses. | Phys Chem Chem Phys | 2022 |
| 36033501 | Design and experimental validation of OPERA_MET-A panel for deep methylation analysis by next generation sequencing. | Front Oncol | 2022 |
| 36264206 | Profiling of cell-free DNA methylation and histone signatures in pediatric NAFLD: A pilot study. | Hepatol Commun | 2022 |
| 36291640 | Nusinersen Induces Disease-Severity-Specific Neurometabolic Effects in Spinal Muscular Atrophy. | Biomolecules | 2022 |
| 35029612 | Healthy and pro-inflammatory gut ecology plays a crucial role in the digestion and tolerance of a novel Gluten Friendlyâ¿¢ bread in celiac subjects: a randomized, double blind, placebo control <i>in vivo</i> study. | Food Funct | 2022 |
| 35112188 | Pathogenic variants of MODY-genes in adult patients with early-onset type 2 diabetes. | Acta Diabetol | 2022 |
| 35264572 | Publisher Correction: Following excited-state chemical shifts in molecular ultrafast x-ray photoelectron spectroscopy. | Nat Commun | 2022 |
| 34927668 | TMBleR: a bioinformatic tool to optimize TMB estimation and predictive power. | Bioinformatics | 2022 |
| 35017539 | Following excited-state chemical shifts in molecular ultrafast x-ray photoelectron spectroscopy. | Nat Commun | 2022 |
| 34820764 | Nociceptin/orphanin FQ opioid receptor (NOP) selective ligand MCOPPB links anxiolytic and senolytic effects. | Geroscience | 2022 |
| 34718610 | Gain of Function of Malate Dehydrogenase 2 and Familial Hyperglycemia. | J Clin Endocrinol Metab | 2022 |
| 34347074 | Germline Alterations in Patients With IBD-associated Colorectal Cancer. | Inflamm Bowel Dis | 2022 |
| 32641752 | Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann-Steiner and Rubinstein-Taybi syndromes. | Eur J Hum Genet | 2021 |
| 33684566 | GDF11 rapidly increases lipid accumulation in liver cancer cells through ALK5-dependent signaling. | Biochim Biophys Acta Mol Cell Biol Lipids | 2021 |
| 33568805 | When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort. | Genet Med | 2021 |
| 33670580 | MicroRNAs and Long Non-Coding RNAs as Potential Candidates to Target Specific Motifs of SARS-CoV-2. | Noncoding RNA | 2021 |
| 33562463 | Whole Exome Sequencing Reveals a Novel <i>AUTS2</i> In-Frame Deletion in a Boy with Global Developmental Delay, Absent Speech, Dysmorphic Features, and Cerebral Anomalies. | Genes (Basel) | 2021 |