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. Donor artery in coronary total occlusion recanalization: QFR versus FFR; May 26, 2025; pubmed:40417345. View on PubMed
  2. Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption; May 16, 2025; pubmed:40379786. View on PubMed
  3. HPDL Variant Type Correlates With Clinical Disease Onset and Severity; May 14, 2025; pubmed:40368591. View on PubMed
  4. Advancement of an automatic segmentation pipeline for metallic artifact removal in post-surgical ACL MRI; May 10, 2025; pubmed:40348296. View on PubMed
  5. A murine model of Barth syndrome recapitulates human cardiac and skeletal muscle phenotypes; May 6, 2025; pubmed:40326536. View on PubMed
  6. Response by Bortolin and Pu to Letter Regarding Article, "Antisense Oligonucleotide Therapy for Calmodulinopathy"; May 5, 2025; pubmed:40324028. View on PubMed
  7. Evolving Hemodynamics in Fontan Circulation: Age-Driven Insights in Patients with Interrupted Inferior Vena Cava and Hepatoazygos Shunt; May 5, 2025; pubmed:40323666. View on PubMed
  8. Adjunctive Corticosteroids for Hypotension in the Pediatric Cardiac ICU: Single-Center Retrospective Study, 2020-2021; May 1, 2025; pubmed:40310269. View on PubMed
  9. Protein-truncating variants and deletions of SHANK2 are associated with autism spectrum disorder and other neurodevelopmental concerns; Apr 30, 2025; pubmed:40307697. View on PubMed
  10. Ten-Year Trends in Pharmacologic Management of Gastroesophageal Reflux Disease and Pediatric Feeding Disorders in Young Children; Apr 29, 2025; pubmed:40300664. View on PubMed
  11. Expert recommendations to standardize transcriptomic analysis in inflammatory bowel disease clinical trials; Apr 28, 2025; pubmed:40295219. View on PubMed
  12. Prevalence, Characteristics, and Management of Pancreatic Tumors Among Children With Tuberous Sclerosis Complex; Apr 26, 2025; pubmed:40286870. View on PubMed
  13. Downregulation of rRNA synthesis by BCL-2 induces chemoresistance in diffuse large B cell lymphoma; Apr 25, 2025; pubmed:40276769. View on PubMed
  14. Heavy metal exposures in aerodigestive clinic cohort of infants with reflux or dysphagia; Apr 24, 2025; pubmed:40269050. View on PubMed
  15. ap4b1 -/- zebrafish demonstrate morphological and motor abnormalities; Apr 23, 2025; pubmed:40267240. View on PubMed
  16. Translational insights into statin-induced myotoxicity: Differential impact of lipophilic and hydrophilic statins on iPSC-derived skeletal muscle cells from patients with familial hypercholesterolemia; Apr 20, 2025; pubmed:40254247. View on PubMed
  17. DBSMatchMaker: Connecting Clinicians Globally for Deep Brain Stimulation in Rare Diseases; Apr 18, 2025; pubmed:40248842. View on PubMed
  18. MAPK Signaling and Angiopoietin-2 Contribute to Endothelial Permeability in Capillary Malformations; Apr 16, 2025; pubmed:40235979. View on PubMed
  19. Dysregulation of N-terminal acetylation causes cardiac arrhythmia and cardiomyopathy; Apr 15, 2025; pubmed:40234403. View on PubMed
  20. Systemic deficits in lipid homeostasis promote aging-associated impairments in B cell progenitor development; Apr 15, 2025; pubmed:40232347. View on PubMed
  21. Generating Risk Reduction Analytics in Complex Cardiac Care Environments (GR<sup>2</sup>AC<sup>3</sup>E): Risk Prediction in Congenital Catheterization; Apr 15, 2025; pubmed:40230665. View on PubMed
  22. Pulmonary and Radiographic Findings in Pediatric Type 1 Laryngeal Cleft; Apr 14, 2025; pubmed:40227884. View on PubMed
  23. Nationwide demonstration of improved COVID-19 vaccination uptake through behavioural reminders; Apr 9, 2025; pubmed:40204873. View on PubMed
  24. Sex differences in seizure presentation in a Dravet syndrome mouse model; Apr 9, 2025; pubmed:40203292. View on PubMed
  25. Lower respiratory rate during sleep in children with angelman syndrome compared to age-matched controls; Apr 8, 2025; pubmed:40200228. View on PubMed
  26. Clinical trials of prevention of acquired epilepsy: New proof-of-concept approach to restart trials; Apr 4, 2025; pubmed:40184261. View on PubMed
  27. ATM-dependent DNA damage response constrains cell growth and drives clonal hematopoiesis in telomere biology disorders; Apr 3, 2025; pubmed:40179146. View on PubMed
  28. Analysis of DNA from brain tissue on stereo-EEG electrodes reveals mosaic epilepsy-related variants; Apr 3, 2025; pubmed:40177531. View on PubMed
  29. HDAC1 acts as a tumor suppressor in ALK-positive anaplastic large cell lymphoma: implications for HDAC inhibitor therapy; Apr 2, 2025; pubmed:40175628. View on PubMed
  30. An endothelial specific mouse model for the capillary malformation mutation Gnaq p.R183Q; Apr 1, 2025; pubmed:40166230. View on PubMed
  31. Examining the Impact of a Developed Family Intervention Program on Children with ADHD; Apr 1, 2025; pubmed:40165033. View on PubMed
  32. Gene Identification for Ocular Congenital Cranial Motor Neuron Disorders Using Human Sequencing, Zebrafish Screening, and Protein Binding Microarrays; Mar 31, 2025; pubmed:40162949. View on PubMed
  33. Phenotypic analysis of 11,125 trio exomes in neurodevelopmental disorders; Mar 31, 2025; pubmed:40161685. View on PubMed
  34. Metabolic constraint of human telomere length by nucleotide salvage efficiency; Mar 28, 2025; pubmed:40148339. View on PubMed
  35. Mental health of general practitioners and family medicine specialists 2 years into the COVID-19 pandemic; Mar 27, 2025; pubmed:40144977. View on PubMed
  36. Clinical and biochemical footprints of inherited metabolic diseases: Ia. Movement disorders, updated; Mar 25, 2025; pubmed:40132382. View on PubMed
  37. SOD2 is a regulator of proteasomal degradation promoting an adaptive cellular starvation response; Mar 25, 2025; pubmed:40131931. View on PubMed
  38. Epilepsy surgery in Sturge-Weber syndrome with unilateral or bilateral asymmetric brain involvement: Boston Children's Hospital experience; Mar 24, 2025; pubmed:40126015. View on PubMed
  39. Genome-wide CRISPR screen identifies IRF1 and TFAP4 as transcriptional regulators of Galectin-9 in T cell acute lymphoblastic leukemia; Mar 19, 2025; pubmed:40106574. View on PubMed
  40. Developmental Oncology: Principles and Therapy of Cancers of Children and Young Adults; Mar 17, 2025; pubmed:40097191. View on PubMed
  41. LncRNA TERRA in hybrid with DNA is a relevant biomarker for monitoring patients with meningioma; Mar 16, 2025; pubmed:40089523. View on PubMed
  42. Variants in ATP6V0C are associated with Dravet-like developmental and epileptic encephalopathy; Mar 14, 2025; pubmed:40085430. View on PubMed
  43. Does Voice Therapy after Endolaryngeal Microsurgery Contribute to the Treatment of Vocal Fold Polyp?; Mar 11, 2025; pubmed:40068642. View on PubMed
  44. Chronic kidney disease awareness: a cross-sectional study in primary care settings in Türkiye; Mar 8, 2025; pubmed:40056272. View on PubMed
  45. ALK in cancer: from function to therapeutic targeting; Mar 7, 2025; pubmed:40055571. View on PubMed
  46. Primary repair versus pulmonary artery banding in complete atrioventricular canal defects in the modern surgical era; Mar 7, 2025; pubmed:40054839. View on PubMed
  47. The mediating role of job satisfaction related to nurse-nurse collaboration and turnover intention; Mar 3, 2025; pubmed:40033285. View on PubMed
  48. Arrayed CRISPR/Cas9 Loss-Of-Function Screen in a Neuronal Model of Adaptor Protein Complex 4 Deficiency Identifies Modulators of ATG9A Trafficking; Mar 3, 2025; pubmed:40027661. View on PubMed
  49. Discordance between a deep learning model and clinical-grade variant pathogenicity classification in a rare disease cohort; Feb 28, 2025; pubmed:40021654. View on PubMed
  50. International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease; Feb 27, 2025; pubmed:40016282. View on PubMed
  51. Epstein-Barr Virus Exposure Precedes Crohn's Disease Development; Feb 26, 2025; pubmed:40010579. View on PubMed
  52. The Spastic Paraplegia-Centers of Excellence Research Network (SP-CERN): Clinical Trial Readiness for Hereditary Spastic Paraplegia; Feb 25, 2025; pubmed:39996129. View on PubMed
  53. PTEN mutations impair CSF dynamics and cortical networks by dysregulating periventricular neural progenitors; Feb 24, 2025; pubmed:39994410. View on PubMed
  54. Use of Computational Phenotypes for Predicting Genetic Subgroups of Cerebral Palsy; Feb 24, 2025; pubmed:39990554. View on PubMed
  55. Congenital Lower Extremity; Feb 22, 2025; pubmed:39986890. View on PubMed
  56. 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
  57. Somatic Genomic and Transcriptomic Changes in Single Ischemic Human Heart Cardiomyocytes; Feb 20, 2025; pubmed:39975917. View on PubMed
  58. Human colon stem cells are the principal epithelial responders to bacterial antigens; Feb 20, 2025; pubmed:39975165. View on PubMed
  59. Chemotherapeutic 6-thio-2'-deoxyguanosine selectively targets and inhibits telomerase by inducing a non-productive telomere-bound telomerase complex; Feb 20, 2025; pubmed:39975053. View on PubMed
  60. 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
  61. Resonance Raman Spectroscopy Detects Ischemia in Experimental Coarctation of the Aorta in a Rodent Model; Feb 19, 2025; pubmed:39971891. View on PubMed
  62. Performance of Unmodified Mechanical Ventilators With 2% Hydrogen Gas Mixtures; Feb 19, 2025; pubmed:39969918. View on PubMed
  63. 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
  64. Strabismus in Genetic Syndromes: A Review; Feb 13, 2025; pubmed:39948700. View on PubMed
  65. Immune Signatures Identify Patient Subsets Deriving Long-Term Benefit From First-Line Rituximab in Follicular Lymphoma; Feb 10, 2025; pubmed:39927328. View on PubMed
  66. The neuropsychological profile of SSADH deficiency, a neurotransmitter disorder of GABA metabolism; Feb 7, 2025; pubmed:39919676. View on PubMed
  67. 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
  68. 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
  69. Dynamic activity of <em>Erg</em> promotes aging of the hematopoietic system; Feb 3, 2025; pubmed:39896635. View on PubMed
  70. Path of differentiation defines human macrophage identity; Feb 3, 2025; pubmed:39896569. View on PubMed
  71. A methyltransferase-independent role for METTL1 in tRNA aminoacylation and oncogenic transformation; Feb 1, 2025; pubmed:39892392. View on PubMed
  72. Using cortical organoids to understand the pathogenesis of malformations of cortical development; Jan 30, 2025; pubmed:39881808. View on PubMed
  73. Sequence variants in HECTD1 result in a variable neurodevelopmental disorder; Jan 29, 2025; pubmed:39879987. View on PubMed
  74. Human TSC2 mutant cells exhibit aberrations in early neurodevelopment accompanied by changes in the DNA Methylome; Jan 29, 2025; pubmed:39877967. View on PubMed
  75. 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
  76. Genetic and Molecular Underpinnings of Atrial Fibrillation; Jan 27, 2025; pubmed:39867228. View on PubMed
  77. Heterozygous variants in AP4S1 are not associated with a neurological phenotype; Jan 27, 2025; pubmed:39865903. View on PubMed
  78. Chromosome 4 Duplication Associated with Strabismus Leads to Gene Expression Changes in iPSC-Derived Cortical Neurons; Jan 25, 2025; pubmed:39858627. View on PubMed
  79. 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
  80. Genome-Wide and Rare Variant Association Studies of Amblyopia in the All of Us Research Program; Jan 22, 2025; pubmed:39842729. View on PubMed
  81. 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
  82. Blended phenotype of TECPR2-associated hereditary sensory-autonomic neuropathy and Temple syndrome; Jan 14, 2025; pubmed:39807687. View on PubMed
  83. Biventricular Repair of Univentricular Heart Lowers Risk of Liver Disease Compared With the Fontan Operation; Jan 13, 2025; pubmed:39801815. View on PubMed
  84. 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
  85. 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
  86. External Auditory Canal Transillumination-Guided Middle Fossa Approaches: An Anatomical Feasibility Study; Jan 8, 2025; pubmed:39774128. View on PubMed
  87. Plasma brain-related biomarkers and potential therapeutic targets in pediatric ECMO; Jan 7, 2025; pubmed:39765416. View on PubMed
  88. Rare germline structural variants increase risk for pediatric solid tumors; Jan 2, 2025; pubmed:39745975. View on PubMed
  89. Expanding molecular and clinical spectrum of CPT1C-associated hereditary spastic paraplegia (SPG73)-a case series; Dec 31, 2024; pubmed:39737739. View on PubMed
  90. Thyroid and cardiovascular diseases; Dec 30, 2024; pubmed:39735488. View on PubMed
  91. 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
  92. 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
  93. An experimental study on the effect of non-ionizing electromagnetic fields on honey bees; Dec 25, 2024; pubmed:39721035. View on PubMed
  94. 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
  95. 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
  96. HSP and CD279 gene expression as candidate biomarkers in symptomatic LGLL patients; Dec 18, 2024; pubmed:39692827. View on PubMed
  97. Regulation of sarcomere formation and function in the healthy heart requires a titin intronic enhancer; Dec 17, 2024; pubmed:39688912. View on PubMed
  98. CHD4 Interacts With TBX5 to Maintain the Gene Regulatory Network of Postnatal Atrial Cardiomyocytes; Dec 16, 2024; pubmed:39677667. View on PubMed
  99. Cardiac Applications of CRISPR/AAV-Mediated Precise Genome Editing; Dec 16, 2024; pubmed:39677651. View on PubMed
  100. AP-4-Associated Hereditary Spastic Paraplegia; Jan 1, 1993; pubmed:30543385. View on PubMed