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

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

Publications

  1. Moiré-Induced Enhanced Hydrogen Adsorption on Graphene; Jul 28, 2025; pubmed:40717446. View Moiré-Induced Enhanced Hydrogen Adsorption on Graphene on PubMed
  2. Development and Adaptive Function in Individuals With <em>SCN2A</em>-Related Disorders; Jul 22, 2025; pubmed:40694750. View Development and Adaptive Function in Individuals With <em>SCN2A</em>-Related Disorders on PubMed
  3. Vitamin D deficiency and surgical cellulose mimicking parathyroid adenoma after initial parathyroidectomy; Jul 21, 2025; pubmed:40686699. View Vitamin D deficiency and surgical cellulose mimicking parathyroid adenoma after initial parathyroidectomy on PubMed
  4. Investigation of the relationship between the triglyceride-glucose index and metabolic and hematological parameters in obese individuals; Jul 21, 2025; pubmed:40686695. View Investigation of the relationship between the triglyceride-glucose index and metabolic and hematological parameters in obese individuals on PubMed
  5. Epigenetic silencing of interleukin-10 by host-derived oxidized phospholipids supports a lethal inflammatory response to infections; Jul 18, 2025; pubmed:40680750. View Epigenetic silencing of interleukin-10 by host-derived oxidized phospholipids supports a lethal inflammatory response to infections on PubMed
  6. Classification and Comparison of Eight Different Growth Curve Methods for Pekin Duck; Jul 18, 2025; pubmed:40677116. View Classification and Comparison of Eight Different Growth Curve Methods for Pekin Duck on PubMed
  7. Cell-type-informed genotyping of mosaic focal epilepsies reveals cell-autonomous and non-cell-autonomous disease-associated transcriptional programs; Jul 17, 2025; pubmed:40674414. View Cell-type-informed genotyping of mosaic focal epilepsies reveals cell-autonomous and non-cell-autonomous disease-associated transcriptional programs on PubMed
  8. <em>In cellulo</em> DNA assembly for targeted genomic integration and rearrangement in human cells; Jul 16, 2025; pubmed:40667027. View <em>In cellulo</em> DNA assembly for targeted genomic integration and rearrangement in human cells on PubMed
  9. A collection of patient-derived intestinal organoid lines reveals epithelial pheno-types associated with genetic drivers of pediatric inflammatory bowel disease; Jul 16, 2025; pubmed:40666956. View A collection of patient-derived intestinal organoid lines reveals epithelial pheno-types associated with genetic drivers of pediatric inflammatory bowel disease on PubMed
  10. Systematic phenotype and genotype characterization of Moebius syndrome; Jul 15, 2025; pubmed:40662098. View Systematic phenotype and genotype characterization of Moebius syndrome on PubMed
  11. Structural Identification of Major Molecular Determinants for Phosphotyrosine Recognition in Tyrosine Kinases Reveals Tumour Promoting and Suppressive Functions; Jul 15, 2025; pubmed:40661594. View Structural Identification of Major Molecular Determinants for Phosphotyrosine Recognition in Tyrosine Kinases Reveals Tumour Promoting and Suppressive Functions on PubMed
  12. Finding buried genetic test results in the electronic health record is inefficient and variable across institutions; Jul 14, 2025; pubmed:40657271. View Finding buried genetic test results in the electronic health record is inefficient and variable across institutions on PubMed
  13. Disrupted Motor Neuron and Neuromuscular Junction Development in an Albino Mice Model of Infantile Nystagmus; Jul 10, 2025; pubmed:40637510. View Disrupted Motor Neuron and Neuromuscular Junction Development in an Albino Mice Model of Infantile Nystagmus on PubMed
  14. Electroencephalogram (EEG) Spike Metrics Discriminate Impending Epileptic Spasms From Other Seizures in Children With Tuberous Sclerosis Complex: A Pilot Study; Jul 8, 2025; pubmed:40625144. View Electroencephalogram (EEG) Spike Metrics Discriminate Impending Epileptic Spasms From Other Seizures in Children With Tuberous Sclerosis Complex: A Pilot Study on PubMed
  15. Baseline terminal ileal CT and MRI measurements are associated with imaging outcomes in pediatric Crohn's disease: a cohort study; Jul 3, 2025; pubmed:40608115. View Baseline terminal ileal CT and MRI measurements are associated with imaging outcomes in pediatric Crohn's disease: a cohort study on PubMed
  16. Extension of replicative lifespan by synthetic engineered telomerase RNA in patient induced pluripotent stem cells; Jun 27, 2025; pubmed:40579489. View Extension of replicative lifespan by synthetic engineered telomerase RNA in patient induced pluripotent stem cells on PubMed
  17. Predictive Value of R<sub>2</sub>CHA<sub>2</sub>DS<sub>2</sub>-VA Score for 90-Day Functional Outcomes After Endovascular Thrombectomy in Acute Ischemic Stroke; Jun 27, 2025; pubmed:40572687. View Predictive Value of R<sub>2</sub>CHA<sub>2</sub>DS<sub>2</sub>-VA Score for 90-Day Functional Outcomes After Endovascular Thrombectomy in Acute Ischemic Stroke on PubMed
  18. Type 1 laryngeal clefts - Which patients can be managed medically? A retrospective cohort study; Jun 26, 2025; pubmed:40570586. View Type 1 laryngeal clefts - Which patients can be managed medically? A retrospective cohort study on PubMed
  19. Novel <em>Klebsiella pneumoniae</em> and <em>Pseudomonas aeruginosa</em> MAPS vaccine combining O polysaccharides and pathogen-specific proteins; Jun 26, 2025; pubmed:40569061. View Novel <em>Klebsiella pneumoniae</em> and <em>Pseudomonas aeruginosa</em> MAPS vaccine combining O polysaccharides and pathogen-specific proteins on PubMed
  20. Disruption of Microhomology-mediated End-joining in Ewing Sarcoma; Jun 26, 2025; pubmed:40568108. View Disruption of Microhomology-mediated End-joining in Ewing Sarcoma on PubMed
  21. A novel brain tumor magnetic resonance imaging dataset (Gazi Brains 2020): initial benchmark results and comprehensive analysis; Jun 26, 2025; pubmed:40567687. View A novel brain tumor magnetic resonance imaging dataset (Gazi Brains 2020): initial benchmark results and comprehensive analysis on PubMed
  22. Human Bone-Derived Endothelial Cells Mediate Bone Regeneration via Distinct Expression of KIT Ligand; Jun 23, 2025; pubmed:40549883. View Human Bone-Derived Endothelial Cells Mediate Bone Regeneration via Distinct Expression of KIT Ligand on PubMed
  23. Adjuvant conditioning shapes the adaptive immune response promoting immunotolerance via NLRP3/interleukin-1; Jun 18, 2025; pubmed:40530419. View Adjuvant conditioning shapes the adaptive immune response promoting immunotolerance via NLRP3/interleukin-1 on PubMed
  24. Vigabatrin-associated brain abnormalities on MRI (VABAM) in children with epileptic spasms; Jun 17, 2025; pubmed:40527948. View Vigabatrin-associated brain abnormalities on MRI (VABAM) in children with epileptic spasms on PubMed
  25. Genome Sequencing Uncovers Additional Findings in Phelan-McDermid Syndrome; Jun 16, 2025; pubmed:40519070. View Genome Sequencing Uncovers Additional Findings in Phelan-McDermid Syndrome on PubMed
  26. Rapid generation of functional vascular organoids via simultaneous transcription factor activation of endothelial and mural lineages; Jun 14, 2025; pubmed:40516530. View Rapid generation of functional vascular organoids via simultaneous transcription factor activation of endothelial and mural lineages on PubMed
  27. Validation of the self-report quantified Tuberous Sclerosis Complex-Associated Neuropsyciatric Disorders Checklist (TAND-SQ); Jun 13, 2025; pubmed:40514711. View Validation of the self-report quantified Tuberous Sclerosis Complex-Associated Neuropsyciatric Disorders Checklist (TAND-SQ) on PubMed
  28. The drug-elicitable alternative splicing module for tunable vector expression in the heart; Jun 13, 2025; pubmed:40514436. View The drug-elicitable alternative splicing module for tunable vector expression in the heart on PubMed
  29. N-Acetyl-l-Leucine for Niemann-Pick Type C: Cautious Optimism for an Expanded Treatment Toolkit; Jun 13, 2025; pubmed:40513056. View N-Acetyl-l-Leucine for Niemann-Pick Type C: Cautious Optimism for an Expanded Treatment Toolkit on PubMed
  30. Do LLMs Have 'the Eye' for MRI? Evaluating GPT-4o, Grok, and Gemini on Brain MRI Performance: First Evaluation of Grok in Medical Imaging and a Comparative Analysis; Jun 13, 2025; pubmed:40506892. View Do LLMs Have 'the Eye' for MRI? Evaluating GPT-4o, Grok, and Gemini on Brain MRI Performance: First Evaluation of Grok in Medical Imaging and a Comparative Analysis on PubMed
  31. Cutaneous immune cell levels in patients with hard-to-heal wounds after maggot therapy and surgical debridement therapy; Jun 12, 2025; pubmed:40504398. View Cutaneous immune cell levels in patients with hard-to-heal wounds after maggot therapy and surgical debridement therapy on PubMed
  32. Enhancing Wnt signaling lowers fracture incidence in a severe mouse model of Osteogenesis Imperfecta; Jun 12, 2025; pubmed:40501669. View Enhancing Wnt signaling lowers fracture incidence in a severe mouse model of Osteogenesis Imperfecta on PubMed
  33. An endothelial specific mouse model for the capillary malformation mutation Gnaq p.R183Q; Jun 11, 2025; pubmed:40498353. View An endothelial specific mouse model for the capillary malformation mutation Gnaq p.R183Q on PubMed
  34. The effect of COVID-19 (SARS-CoV-2) vaccines on vulvar condylomata; Jun 11, 2025; pubmed:40495551. View The effect of COVID-19 (SARS-CoV-2) vaccines on vulvar condylomata on PubMed
  35. Pioneer factor ETV2 safeguards endothelial cell specification by recruiting the repressor REST to restrict alternative lineage commitment; Jun 10, 2025; pubmed:40495012. View Pioneer factor ETV2 safeguards endothelial cell specification by recruiting the repressor REST to restrict alternative lineage commitment on PubMed
  36. AKT-mediated phosphorylation of TSC2 controls stimulus- and tissue-specific mTORC1 signaling and organ growth; Jun 6, 2025; pubmed:40480230. View AKT-mediated phosphorylation of TSC2 controls stimulus- and tissue-specific mTORC1 signaling and organ growth on PubMed
  37. CC180 clade dynamics do not universally explain Streptococcus pneumoniae serotype 3 persistence post-vaccine: a global comparative population genomics study; Jun 5, 2025; pubmed:40472804. View CC180 clade dynamics do not universally explain Streptococcus pneumoniae serotype 3 persistence post-vaccine: a global comparative population genomics study on PubMed
  38. Risk of Recurrence and Long-Term Outcomes of Ectopic Atrial Tachycardia After Surgery for Congenital Heart Disease; Jun 3, 2025; pubmed:40457882. View Risk of Recurrence and Long-Term Outcomes of Ectopic Atrial Tachycardia After Surgery for Congenital Heart Disease on PubMed
  39. Elevated Plasma Neurofilament Light Chain Levels in Children with Infantile-Onset Ascending Hereditary Spastic Paralysis; May 29, 2025; pubmed:40439044. View Elevated Plasma Neurofilament Light Chain Levels in Children with Infantile-Onset Ascending Hereditary Spastic Paralysis on PubMed
  40. SCIG: Machine learning uncovers cell identity genes in single cells by genetic sequence codes; May 28, 2025; pubmed:40433981. View SCIG: Machine learning uncovers cell identity genes in single cells by genetic sequence codes on PubMed
  41. Donor artery in coronary total occlusion recanalization: QFR versus FFR; May 26, 2025; pubmed:40417345. View Donor artery in coronary total occlusion recanalization: QFR versus FFR on PubMed
  42. Symptomatic management of pediatric dystonia: A call for multidisciplinary, individualized palliative care; May 22, 2025; pubmed:40404518. View Symptomatic management of pediatric dystonia: A call for multidisciplinary, individualized palliative care on PubMed
  43. Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption; May 16, 2025; pubmed:40379786. View Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption on PubMed
  44. HPDL Variant Type Correlates With Clinical Disease Onset and Severity; May 14, 2025; pubmed:40368591. View HPDL Variant Type Correlates With Clinical Disease Onset and Severity on PubMed
  45. Advancement of an automatic segmentation pipeline for metallic artifact removal in post-surgical ACL MRI; May 10, 2025; pubmed:40348296. View Advancement of an automatic segmentation pipeline for metallic artifact removal in post-surgical ACL MRI on PubMed
  46. A murine model of Barth syndrome recapitulates human cardiac and skeletal muscle phenotypes; May 6, 2025; pubmed:40326536. View A murine model of Barth syndrome recapitulates human cardiac and skeletal muscle phenotypes on PubMed
  47. Response by Bortolin and Pu to Letter Regarding Article, "Antisense Oligonucleotide Therapy for Calmodulinopathy"; May 5, 2025; pubmed:40324028. View Response by Bortolin and Pu to Letter Regarding Article, "Antisense Oligonucleotide Therapy for Calmodulinopathy" on PubMed
  48. Evolving hemodynamics in Fontan circulation: age-driven insights in patients with interrupted inferior vena cava and hepatoazygos shunt; May 5, 2025; pubmed:40323666. View Evolving hemodynamics in Fontan circulation: age-driven insights in patients with interrupted inferior vena cava and hepatoazygos shunt on PubMed
  49. Adjunctive Corticosteroids for Hypotension in the Pediatric Cardiac ICU: Single-Center Retrospective Study, 2020-2021; May 1, 2025; pubmed:40310269. View Adjunctive Corticosteroids for Hypotension in the Pediatric Cardiac ICU: Single-Center Retrospective Study, 2020-2021 on PubMed
  50. Protein-truncating variants and deletions of SHANK2 are associated with autism spectrum disorder and other neurodevelopmental concerns; Apr 30, 2025; pubmed:40307697. View Protein-truncating variants and deletions of SHANK2 are associated with autism spectrum disorder and other neurodevelopmental concerns on PubMed
  51. Ten-Year Trends in Pharmacologic Management of Gastroesophageal Reflux Disease and Pediatric Feeding Disorders in Young Children; Apr 29, 2025; pubmed:40300664. View Ten-Year Trends in Pharmacologic Management of Gastroesophageal Reflux Disease and Pediatric Feeding Disorders in Young Children on PubMed
  52. Expert recommendations to standardize transcriptomic analysis in inflammatory bowel disease clinical trials; Apr 28, 2025; pubmed:40295219. View Expert recommendations to standardize transcriptomic analysis in inflammatory bowel disease clinical trials on PubMed
  53. Prevalence, Characteristics, and Management of Pancreatic Tumors Among Children With Tuberous Sclerosis Complex; Apr 26, 2025; pubmed:40286870. View Prevalence, Characteristics, and Management of Pancreatic Tumors Among Children With Tuberous Sclerosis Complex on PubMed
  54. Downregulation of rRNA synthesis by BCL-2 induces chemoresistance in diffuse large B cell lymphoma; Apr 25, 2025; pubmed:40276769. View Downregulation of rRNA synthesis by BCL-2 induces chemoresistance in diffuse large B cell lymphoma on PubMed
  55. Heavy metal exposures in aerodigestive clinic cohort of infants with reflux or dysphagia; Apr 24, 2025; pubmed:40269050. View Heavy metal exposures in aerodigestive clinic cohort of infants with reflux or dysphagia on PubMed
  56. ap4b1 -/- zebrafish demonstrate morphological and motor abnormalities; Apr 23, 2025; pubmed:40267240. View ap4b1 -/- zebrafish demonstrate morphological and motor abnormalities on PubMed
  57. 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 Translational insights into statin-induced myotoxicity: Differential impact of lipophilic and hydrophilic statins on iPSC-derived skeletal muscle cells from patients with familial hypercholesterolemia on PubMed
  58. DBSMatchMaker: Connecting Clinicians Globally for Deep Brain Stimulation in Rare Diseases; Apr 18, 2025; pubmed:40248842. View DBSMatchMaker: Connecting Clinicians Globally for Deep Brain Stimulation in Rare Diseases on PubMed
  59. MAPK Signaling and Angiopoietin-2 Contribute to Endothelial Permeability in Capillary Malformations; Apr 16, 2025; pubmed:40235979. View MAPK Signaling and Angiopoietin-2 Contribute to Endothelial Permeability in Capillary Malformations on PubMed
  60. Dysregulation of N-terminal acetylation causes cardiac arrhythmia and cardiomyopathy; Apr 15, 2025; pubmed:40234403. View Dysregulation of N-terminal acetylation causes cardiac arrhythmia and cardiomyopathy on PubMed
  61. Systemic deficits in lipid homeostasis promote aging-associated impairments in B cell progenitor development; Apr 15, 2025; pubmed:40232347. View Systemic deficits in lipid homeostasis promote aging-associated impairments in B cell progenitor development on PubMed
  62. 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 Generating Risk Reduction Analytics in Complex Cardiac Care Environments (GR<sup>2</sup>AC<sup>3</sup>E): Risk Prediction in Congenital Catheterization on PubMed
  63. Pulmonary and Radiographic Findings in Pediatric Type 1 Laryngeal Cleft; Apr 14, 2025; pubmed:40227884. View Pulmonary and Radiographic Findings in Pediatric Type 1 Laryngeal Cleft on PubMed
  64. Nationwide demonstration of improved COVID-19 vaccination uptake through behavioural reminders; Apr 9, 2025; pubmed:40204873. View Nationwide demonstration of improved COVID-19 vaccination uptake through behavioural reminders on PubMed
  65. Sex differences in seizure presentation in a Dravet syndrome mouse model; Apr 9, 2025; pubmed:40203292. View Sex differences in seizure presentation in a Dravet syndrome mouse model on PubMed
  66. Lower respiratory rate during sleep in children with angelman syndrome compared to age-matched controls; Apr 8, 2025; pubmed:40200228. View Lower respiratory rate during sleep in children with angelman syndrome compared to age-matched controls on PubMed
  67. Clinical trials of prevention of acquired epilepsy: New proof-of-concept approach to restart trials; Apr 4, 2025; pubmed:40184261. View Clinical trials of prevention of acquired epilepsy: New proof-of-concept approach to restart trials on PubMed
  68. ATM-dependent DNA damage response constrains cell growth and drives clonal hematopoiesis in telomere biology disorders; Apr 3, 2025; pubmed:40179146. View ATM-dependent DNA damage response constrains cell growth and drives clonal hematopoiesis in telomere biology disorders on PubMed
  69. Analysis of DNA from brain tissue on stereo-EEG electrodes reveals mosaic epilepsy-related variants; Apr 3, 2025; pubmed:40177531. View Analysis of DNA from brain tissue on stereo-EEG electrodes reveals mosaic epilepsy-related variants on PubMed
  70. HDAC1 acts as a tumor suppressor in ALK-positive anaplastic large cell lymphoma: implications for HDAC inhibitor therapy; Apr 2, 2025; pubmed:40175628. View HDAC1 acts as a tumor suppressor in ALK-positive anaplastic large cell lymphoma: implications for HDAC inhibitor therapy on PubMed
  71. An endothelial specific mouse model for the capillary malformation mutation Gnaq p.R183Q; Apr 1, 2025; pubmed:40166230. View An endothelial specific mouse model for the capillary malformation mutation Gnaq p.R183Q on PubMed
  72. Examining the Impact of a Developed Family Intervention Program on Children with ADHD; Apr 1, 2025; pubmed:40165033. View Examining the Impact of a Developed Family Intervention Program on Children with ADHD on PubMed
  73. Gene Identification for Ocular Congenital Cranial Motor Neuron Disorders Using Human Sequencing, Zebrafish Screening, and Protein Binding Microarrays; Mar 31, 2025; pubmed:40162949. View Gene Identification for Ocular Congenital Cranial Motor Neuron Disorders Using Human Sequencing, Zebrafish Screening, and Protein Binding Microarrays on PubMed
  74. Phenotypic analysis of 11,125 trio exomes in neurodevelopmental disorders; Mar 31, 2025; pubmed:40161685. View Phenotypic analysis of 11,125 trio exomes in neurodevelopmental disorders on PubMed
  75. Metabolic constraint of human telomere length by nucleotide salvage efficiency; Mar 28, 2025; pubmed:40148339. View Metabolic constraint of human telomere length by nucleotide salvage efficiency on PubMed
  76. Mental health of general practitioners and family medicine specialists 2 years into the COVID-19 pandemic; Mar 27, 2025; pubmed:40144977. View Mental health of general practitioners and family medicine specialists 2 years into the COVID-19 pandemic on PubMed
  77. Clinical and biochemical footprints of inherited metabolic diseases: Ia. Movement disorders, updated; Mar 25, 2025; pubmed:40132382. View Clinical and biochemical footprints of inherited metabolic diseases: Ia. Movement disorders, updated on PubMed
  78. SOD2 is a regulator of proteasomal degradation promoting an adaptive cellular starvation response; Mar 25, 2025; pubmed:40131931. View SOD2 is a regulator of proteasomal degradation promoting an adaptive cellular starvation response on PubMed
  79. Epilepsy surgery in Sturge-Weber syndrome with unilateral or bilateral asymmetric brain involvement: Boston Children's Hospital experience; Mar 24, 2025; pubmed:40126015. View Epilepsy surgery in Sturge-Weber syndrome with unilateral or bilateral asymmetric brain involvement: Boston Children's Hospital experience on PubMed
  80. 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 Genome-wide CRISPR screen identifies IRF1 and TFAP4 as transcriptional regulators of Galectin-9 in T cell acute lymphoblastic leukemia on PubMed
  81. Developmental Oncology: Principles and Therapy of Cancers of Children and Young Adults; Mar 17, 2025; pubmed:40097191. View Developmental Oncology: Principles and Therapy of Cancers of Children and Young Adults on PubMed
  82. LncRNA TERRA in hybrid with DNA is a relevant biomarker for monitoring patients with meningioma; Mar 16, 2025; pubmed:40089523. View LncRNA TERRA in hybrid with DNA is a relevant biomarker for monitoring patients with meningioma on PubMed
  83. Variants in ATP6V0C are associated with Dravet-like developmental and epileptic encephalopathy; Mar 14, 2025; pubmed:40085430. View Variants in ATP6V0C are associated with Dravet-like developmental and epileptic encephalopathy on PubMed
  84. Does Voice Therapy after Endolaryngeal Microsurgery Contribute to the Treatment of Vocal Fold Polyp?; Mar 11, 2025; pubmed:40068642. View Does Voice Therapy after Endolaryngeal Microsurgery Contribute to the Treatment of Vocal Fold Polyp? on PubMed
  85. Chronic kidney disease awareness: a cross-sectional study in primary care settings in Türkiye; Mar 8, 2025; pubmed:40056272. View Chronic kidney disease awareness: a cross-sectional study in primary care settings in Türkiye on PubMed
  86. ALK in cancer: from function to therapeutic targeting; Mar 7, 2025; pubmed:40055571. View ALK in cancer: from function to therapeutic targeting on PubMed
  87. Primary repair versus pulmonary artery banding in complete atrioventricular canal defects in the modern surgical era; Mar 7, 2025; pubmed:40054839. View Primary repair versus pulmonary artery banding in complete atrioventricular canal defects in the modern surgical era on PubMed
  88. The mediating role of job satisfaction related to nurse-nurse collaboration and turnover intention; Mar 3, 2025; pubmed:40033285. View The mediating role of job satisfaction related to nurse-nurse collaboration and turnover intention on PubMed
  89. 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 Arrayed CRISPR/Cas9 Loss-Of-Function Screen in a Neuronal Model of Adaptor Protein Complex 4 Deficiency Identifies Modulators of ATG9A Trafficking on PubMed
  90. Discordance between a deep learning model and clinical-grade variant pathogenicity classification in a rare disease cohort; Feb 28, 2025; pubmed:40021654. View Discordance between a deep learning model and clinical-grade variant pathogenicity classification in a rare disease cohort on PubMed
  91. International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease; Feb 27, 2025; pubmed:40016282. View International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease on PubMed
  92. Epstein-Barr Virus Exposure Precedes Crohn's Disease Development; Feb 26, 2025; pubmed:40010579. View Epstein-Barr Virus Exposure Precedes Crohn's Disease Development on PubMed
  93. The Spastic Paraplegia-Centers of Excellence Research Network (SP-CERN): Clinical Trial Readiness for Hereditary Spastic Paraplegia; Feb 25, 2025; pubmed:39996129. View The Spastic Paraplegia-Centers of Excellence Research Network (SP-CERN): Clinical Trial Readiness for Hereditary Spastic Paraplegia on PubMed
  94. PTEN mutations impair CSF dynamics and cortical networks by dysregulating periventricular neural progenitors; Feb 24, 2025; pubmed:39994410. View PTEN mutations impair CSF dynamics and cortical networks by dysregulating periventricular neural progenitors on PubMed
  95. Use of Computational Phenotypes for Predicting Genetic Subgroups of Cerebral Palsy; Feb 24, 2025; pubmed:39990554. View Use of Computational Phenotypes for Predicting Genetic Subgroups of Cerebral Palsy on PubMed
  96. Congenital Lower Extremity; Feb 22, 2025; pubmed:39986890. View Congenital Lower Extremity on PubMed
  97. 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 The moderating effects of physical activity on social anxiety and sleep disturbance: managing gaming disorder in young e-sports players on PubMed
  98. Somatic Genomic and Transcriptomic Changes in Single Ischemic Human Heart Cardiomyocytes; Feb 20, 2025; pubmed:39975917. View Somatic Genomic and Transcriptomic Changes in Single Ischemic Human Heart Cardiomyocytes on PubMed
  99. Human colon stem cells are the principal epithelial responders to bacterial antigens; Feb 20, 2025; pubmed:39975165. View Human colon stem cells are the principal epithelial responders to bacterial antigens on PubMed
  100. <em>ADCY5</em>-Related Movement Disorder; Jan 1, 1993; pubmed:25521004. View <em>ADCY5</em>-Related Movement Disorder on PubMed