TIS in the News

Five women, three men and a young girl standing inside a hospital hallway

The journey to a treatment for hereditary spastic paraplegia

Read more about hereditary spastic paraplegia in the answers blog
Scott Snapper, a researcher, stands in his Boston Children's lab coat with his arms crossed.

From bench to bedside: A promising option for unremitting ulcerative colitis

Read more about ulcerative colitis in the answers blog

Publications

  1. The moderating effects of physical activity on social anxiety and sleep disturbance: managing gaming disorder in young e-sports players; Feb 21, 2025; pubmed:39980917. View on PubMed
  2. Somatic Genomic and Transcriptomic Changes in Single Ischemic Human Heart Cardiomyocytes; Feb 20, 2025; pubmed:39975917. View on PubMed
  3. Human colon stem cells are the principal epithelial responders to bacterial antigens; Feb 20, 2025; pubmed:39975165. View on PubMed
  4. 6-thio-2'-deoxyguanosine inhibits telomere elongation by inducing a non-productive stalled telomerase complex; Feb 20, 2025; pubmed:39975053. View on PubMed
  5. Molecular characterization informs prognosis in patients with localized Ewing sarcoma: A report from the Children's Oncology Group; Feb 20, 2025; pubmed:39974064. View on PubMed
  6. Resonance Raman Spectroscopy Detects Ischemia in Experimental Coarctation of the Aorta in a Rodent Model; Feb 19, 2025; pubmed:39971891. View on PubMed
  7. Performance of Unmodified Mechanical Ventilators With 2% Hydrogen Gas Mixtures; Feb 19, 2025; pubmed:39969918. View on PubMed
  8. Phenotypic rescue via mTOR inhibition in neuron-specific Pten knockout mice reveals AKT and mTORC1-site specific changes; Feb 14, 2025; pubmed:39953287. View on PubMed
  9. Strabismus in Genetic Syndromes: A Review; Feb 13, 2025; pubmed:39948700. View on PubMed
  10. Immune Signatures Identify Patient Subsets Deriving Long-Term Benefit From First-Line Rituximab in Follicular Lymphoma; Feb 10, 2025; pubmed:39927328. View on PubMed
  11. The neuropsychological profile of SSADH deficiency, a neurotransmitter disorder of GABA metabolism; Feb 7, 2025; pubmed:39919676. View on PubMed
  12. Machine learning enables high-throughput, low-replicate screening for novel anti-seizure targets and compounds using combined movement and calcium fluorescence in larval zebrafish; Feb 6, 2025; pubmed:39914783. View on PubMed
  13. Feasibility, Usability, and Pilot Efficacy Study of a Software-Enabled, Virtual Pulmonary Rehabilitation with Remote Therapeutic Monitoring; Feb 5, 2025; pubmed:39906676. View on PubMed
  14. Dynamic activity of <em>Erg</em> promotes aging of the hematopoietic system; Feb 3, 2025; pubmed:39896635. View on PubMed
  15. Path of differentiation defines human macrophage identity; Feb 3, 2025; pubmed:39896569. View on PubMed
  16. A methyltransferase-independent role for METTL1 in tRNA aminoacylation and oncogenic transformation; Feb 1, 2025; pubmed:39892392. View on PubMed
  17. Using cortical organoids to understand the pathogenesis of malformations of cortical development; Jan 30, 2025; pubmed:39881808. View on PubMed
  18. Sequence variants in HECTD1 result in a variable neurodevelopmental disorder; Jan 29, 2025; pubmed:39879987. View on PubMed
  19. Human TSC2 mutant cells exhibit aberrations in early neurodevelopment accompanied by changes in the DNA Methylome; Jan 29, 2025; pubmed:39877967. View on PubMed
  20. Enhanced proconvulsant sensitivity, not spontaneous rapid swimming activity, is a robust correlate of <em>scn1lab</em> loss-of-function in stable mutant and F0 crispant hypopigmented zebrafish expressing GCaMP6s; Jan 27, 2025; pubmed:39868154. View on PubMed
  21. Genetic and Molecular Underpinnings of Atrial Fibrillation; Jan 27, 2025; pubmed:39867228. View on PubMed
  22. Heterozygous variants in AP4S1 are not associated with a neurological phenotype; Jan 27, 2025; pubmed:39865903. View on PubMed
  23. Chromosome 4 Duplication Associated with Strabismus Leads to Gene Expression Changes in iPSC-Derived Cortical Neurons; Jan 25, 2025; pubmed:39858627. View on PubMed
  24. Harnessing the potential of human induced pluripotent stem cells, functional assays and machine learning for neurodevelopmental disorders; Jan 23, 2025; pubmed:39844857. View on PubMed
  25. Genome Wide and Rare Variant Association Studies of Amblyopia in the All of Us Research Program; Jan 22, 2025; pubmed:39842729. View on PubMed
  26. Outcomes for infants with BRUE diagnosed with oropharyngeal dysphagia or gastroesophageal reflux disease: a multicenter study from the Pediatric Health Information System Database; Jan 14, 2025; pubmed:39808308. View on PubMed
  27. Blended phenotype of TECPR2-associated hereditary sensory-autonomic neuropathy and Temple syndrome; Jan 14, 2025; pubmed:39807687. View on PubMed
  28. Biventricular Repair of Univentricular Heart Lowers Risk of Liver Disease Compared With the Fontan Operation; Jan 13, 2025; pubmed:39801815. View on PubMed
  29. Use of a Novel Steerable Tip Suction Cannula in Large and Giant Pituitary Adenomas: A Cadaveric Feasibility Study; Jan 10, 2025; pubmed:39789909. View on PubMed
  30. Endogenous CD4 T cells that recognize ALK and the NPM1::ALK fusion protein can be expanded from human peripheral blood; Jan 8, 2025; pubmed:39774774. View on PubMed
  31. External Auditory Canal Transillumination-Guided Middle Fossa Approaches: An Anatomical Feasibility Study; Jan 8, 2025; pubmed:39774128. View on PubMed
  32. Plasma brain-related biomarkers and potential therapeutic targets in pediatric ECMO; Jan 7, 2025; pubmed:39765416. View on PubMed
  33. Rare germline structural variants increase risk for pediatric solid tumors; Jan 2, 2025; pubmed:39745975. View on PubMed
  34. Expanding molecular and clinical spectrum of CPT1C-associated hereditary spastic paraplegia (SPG73)-a case series; Dec 31, 2024; pubmed:39737739. View on PubMed
  35. Thyroid and cardiovascular diseases; Dec 30, 2024; pubmed:39735488. View on PubMed
  36. Quantitative natural history modeling of HPDL-related disease based on cross-sectional data reveals genotype-phenotype correlations; Dec 28, 2024; pubmed:39731469. View on PubMed
  37. STUB1-Associated Autosomal-Recessive Spinocerebellar Ataxia Type 16 (SCAR16) Presenting with Gordon-Holmes Syndrome Caused by Maternal Uniparental Isodisomy; Dec 27, 2024; pubmed:39728009. View on PubMed
  38. An experimental study on the effect of non-ionizing electromagnetic fields on honey bees; Dec 25, 2024; pubmed:39721035. View on PubMed
  39. Deep Learning-Based Visual Complexity Analysis of Electroencephalography Time-Frequency Images: Can It Localize the Epileptogenic Zone in the Brain?; Dec 23, 2024; pubmed:39712322. View on PubMed
  40. Exploring Gender Differences in Receipt of the 5As for Smoking Cessation for Recently-Diagnosed Cancer Patients (ECOG-ACRIN EAQ171CD); Dec 19, 2024; pubmed:39697094. View on PubMed
  41. HSP and CD279 gene expression as candidate biomarkers in symptomatic LGLL patients; Dec 18, 2024; pubmed:39692827. View on PubMed
  42. Regulation of sarcomere formation and function in the healthy heart requires a titin intronic enhancer; Dec 17, 2024; pubmed:39688912. View on PubMed
  43. CHD4 Interacts With TBX5 to Maintain the Gene Regulatory Network of Postnatal Atrial Cardiomyocytes; Dec 16, 2024; pubmed:39677667. View on PubMed
  44. Cardiac Applications of CRISPR/AAV-Mediated Precise Genome Editing; Dec 16, 2024; pubmed:39677651. View on PubMed
  45. The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42ND; Dec 15, 2024; pubmed:39674904. View on PubMed
  46. Comprehensive evaluation and practical guideline of gating methods for high-dimensional cytometry data: manual gating, unsupervised clustering, and auto-gating; Dec 10, 2024; pubmed:39656848. View on PubMed
  47. Wide variation in shape of hypoplastic left ventricles undergoing recruitment and biventricular repair: A statistical shape modeling study; Dec 8, 2024; pubmed:39647766. View on PubMed
  48. Remote monitoring of social attention in neurogenetic syndromes and idiopathic neurodevelopmental disability; Dec 6, 2024; pubmed:39643599. View on PubMed
  49. The dynamics of hematopoiesis over the human lifespan; Dec 5, 2024; pubmed:39639169. View on PubMed
  50. Reddit for research recruitment? Social media as a novel clinical trial recruitment tool for adolescent and young adult (AYA) cancer survivors; Dec 5, 2024; pubmed:39636575. View on PubMed
  51. Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes; Dec 2, 2024; pubmed:39622807. View on PubMed
  52. Non-Cell-Autonomous Cardiomyocyte Regulation Complicates Gene Supplementation Therapy for <em>Lmna</em>-Associated Cardiac Defects in Mice; Dec 2, 2024; pubmed:39619139. View on PubMed
  53. Identification of biallelic POLA2 variants in two families with an autosomal recessive telomere biology disorder; Nov 30, 2024; pubmed:39616267. View on PubMed
  54. Safety, reactogenicity, and immunogenicity of a novel 24-valent pneumococcal vaccine candidate in healthy, pneumococcal vaccine-naïve Japanese adults: A phase 1 randomized dose-escalation trial; Nov 29, 2024; pubmed:39612802. View on PubMed
  55. Construction destruction: Contribution of dyregulated proteostasis to neurodevelopmental disorders; Nov 29, 2024; pubmed:39612590. View on PubMed
  56. Excitatory Cortical Neurons from CDKL5 Deficiency Disorder Patient-Derived Organoids Show Early Hyperexcitability Not Identified in Neurogenin2 Induced Neurons; Nov 28, 2024; pubmed:39605742. View on PubMed
  57. Anterior selective targeting for radiosurgical treatment of trigeminal neuralgia: a cohort study; Nov 28, 2024; pubmed:39604654. View on PubMed
  58. Cancer Therapies Targeting Cellular Metabolism; Nov 25, 2024; pubmed:39586631. View on PubMed
  59. Alpha-Delta Ratio for Detection of Cerebral Injury and Stroke in Pediatric Extracorporeal Membrane Oxygenation; Nov 25, 2024; pubmed:39582111. View on PubMed
  60. Rodent Models for ASD Biomarker Development; Nov 19, 2024; pubmed:39562446. View on PubMed
  61. Frontal Lobe Epilepsy: Bermuda's Triangle; Nov 14, 2024; pubmed:39539403. View on PubMed
  62. Intraoperative Conduction Mapping to Reduce Postoperative Atrioventricular Block in Complex Congenital Heart Disease; Nov 13, 2024; pubmed:39537250. View on PubMed
  63. Human ITGAV variants are associated with immune dysregulation, brain abnormalities, and colitis; Nov 11, 2024; pubmed:39526957. View on PubMed
  64. Quantifying neurobehavioral profiles across neurodevelopmental genetic syndromes and idiopathic neurodevelopmental disorders; Nov 11, 2024; pubmed:39526825. View on PubMed
  65. Enhancement of Glutamate Uptake as Novel Antiseizure Approach: Preclinical Proof of Concept; Nov 8, 2024; pubmed:39512205. View on PubMed
  66. Type III interferons induce pyroptosis in gut epithelial cells and impair mucosal repair; Nov 5, 2024; pubmed:39500322. View on PubMed
  67. Long-term effect of postoperative radioactive iodine therapy on parathyroid function in patients with differentiated thyroid cancer; Nov 4, 2024; pubmed:39496869. View on PubMed
  68. Effect of Adopting a Gluten-Free Diet on Exposure to Arsenic and Other Heavy Metals in Children With Celiac Disease: A Prospective Cohort Study; Nov 2, 2024; pubmed:39487831. View on PubMed
  69. Spatiotemporal coordination of actin regulators generates invasive protrusions in cell-cell fusion; Nov 2, 2024; pubmed:39487253. View on PubMed
  70. Venous thromboembolism in adolescents and young adults with acute lymphoblastic leukemia treated on a pediatric-inspired regimen; Nov 1, 2024; pubmed:39482298. View on PubMed
  71. Recurrent somatic mutations of FAT family cadherins induce an aggressive phenotype and poor prognosis in anaplastic large cell lymphoma; Oct 31, 2024; pubmed:39478125. View on PubMed
  72. Outcomes of Surgical and Endovascular Treatment of Intracranial Aneurysms: A Single-Center Analysis of 1183 Patients; Oct 30, 2024; pubmed:39474951. View on PubMed
  73. Biomechanics and clinical implications of Fontan upsizing; Oct 29, 2024; pubmed:39471662. View on PubMed
  74. Accumulated seizure burden predicts neurodevelopmental outcome at 36 months of age in patients with tuberous sclerosis complex; Oct 29, 2024; pubmed:39470995. View on PubMed
  75. Subcortical plaques and inflammation reflect cortical and meningeal pathologies in progressive multiple sclerosis; Oct 26, 2024; pubmed:39460678. View on PubMed
  76. Evaluation of a Quadrivalent <em>Shigella flexneri</em> Serotype 2a, 3a, 6, and <em>Shigella sonnei</em> O-Specific Polysaccharide and IpaB MAPS Vaccine; Oct 26, 2024; pubmed:39460258. View on PubMed
  77. Disorders of secondary peristalsis are associated with the development of esophagitis; Oct 25, 2024; pubmed:39450651. View on PubMed
  78. Spectrum and Evolution of Movement Disorder Phenomenology in a Pediatric Powassan Encephalitis Case Series; Oct 22, 2024; pubmed:39435637. View on PubMed
  79. Genome Sequencing After Exome Sequencing in Pediatric Epilepsy; Oct 21, 2024; pubmed:39432277. View on PubMed
  80. Single-cell transcriptomics of pediatric Burkitt lymphoma reveals intra-tumor heterogeneity and markers of therapy resistance; Oct 18, 2024; pubmed:39424708. View on PubMed
  81. An update on autophagy disorders; Oct 18, 2024; pubmed:39420677. View on PubMed
  82. Systemically injected oxygen within rapidly dissolving microbubbles improves the outcomes of severe hypoxaemia in swine; Oct 17, 2024; pubmed:39420063. View on PubMed
  83. Branched actin polymerization drives invasive protrusion formation to promote myoblast fusion during skeletal muscle regeneration; Oct 17, 2024; pubmed:39416162. View on PubMed
  84. Outcomes following endoscopic endonasal resection of craniopharyngiomas using intraoperative magnetic resonance imaging: Case series; Oct 16, 2024; pubmed:39414503. View on PubMed
  85. A Hybrid 2D-to-3D in vitro Differentiation Platform Improves Outcomes of Cerebral Cortical Organoid Generation in hiPSCs; Oct 14, 2024; pubmed:39400999. View on PubMed
  86. Systemic deficits in lipid homeostasis promote aging-associated impairments in B cell progenitor development; Oct 10, 2024; pubmed:39386685. View on PubMed
  87. AKT-mediated phosphorylation of TSC2 controls stimulus- and tissue-specific mTORC1 signaling and organ growth; Oct 10, 2024; pubmed:39386441. View on PubMed
  88. Early Life Exposure to Parental Crohn's Disease Is Associated With Offspring's Gut Microbiome, Gut Permeability, and Increased Risk of Future Crohn's Disease; Oct 9, 2024; pubmed:39384162. View on PubMed
  89. Biallelic Variants in COQ4 Cause Childhood-Onset Pure Hereditary Spastic Paraplegia; Oct 5, 2024; pubmed:39367686. View on PubMed
  90. Pre-clinical development of AP4B1 gene replacement therapy for hereditary spastic paraplegia type 47; Oct 2, 2024; pubmed:39358605. View on PubMed
  91. The GENESIS database and tools: A decade of discovery in Mendelian genomics; Oct 2, 2024; pubmed:39357594. View on PubMed
  92. The epigenetic state of the cell of origin defines mechanisms of leukemogenesis; Oct 1, 2024; pubmed:39354203. View on PubMed
  93. Surface protein distribution in Group B Streptococcus isolates from South Africa and identifying vaccine targets through in silico analysis; Sep 30, 2024; pubmed:39349584. View on PubMed
  94. Spanish cardiac catheterization and coronary intervention registry. 33rd official report of the Interventional Cardiology Association of the Spanish Society of Cardiology (1990-2023); Sep 27, 2024; pubmed:39332624. View on PubMed
  95. Postoperative aortic isthmus size after arch reconstruction with patch augmentation predicts arch reintervention; Sep 26, 2024; pubmed:39326728. View on PubMed
  96. Machine learning prediction of pancreatitis risk with antithyroid drugs: a nationwide retrospective observational study; Sep 26, 2024; pubmed:39324654. View on PubMed
  97. Case Report of Friedreich's Ataxia and ALG1 -Related Biochemical Abnormalities in a Patient With Progressive Spastic Paraplegia; Sep 26, 2024; pubmed:39324476. View on PubMed
  98. Outpatient Management of Fever and Neutropenia in Low-risk Children with Solid Tumors: A Quality Improvement Initiative; Sep 26, 2024; pubmed:39323986. View on PubMed
  99. Survey of the Landscape of Society Practice Guidelines for Genetic Testing of Neurodevelopmental Disorders; Sep 25, 2024; pubmed:39319594. View on PubMed
  100. AP-4-Associated Hereditary Spastic Paraplegia; Jan 1, 1993; pubmed:30543385. View on PubMed