TIS in the News
From bench to bedside: A promising option for unremitting ulcerative colitis
Publications
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- ap4b1 -/- zebrafish demonstrate morphological and motor abnormalities; Apr 23, 2025; pubmed:40267240. View ap4b1 -/- zebrafish demonstrate morphological and motor abnormalities on PubMed
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- ALK in cancer: from function to therapeutic targeting; Mar 7, 2025; pubmed:40055571. View ALK in cancer: from function to therapeutic targeting on PubMed
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- Congenital Lower Extremity; Feb 22, 2025; pubmed:39986890. View Congenital Lower Extremity on PubMed
- 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
- 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
- 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
- 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 Chemotherapeutic 6-thio-2'-deoxyguanosine selectively targets and inhibits telomerase by inducing a non-productive telomere-bound telomerase complex on PubMed
- Molecular characterization informs prognosis in patients with localized Ewing sarcoma: A report from the Children's Oncology Group; Feb 20, 2025; pubmed:39974064. View Molecular characterization informs prognosis in patients with localized Ewing sarcoma: A report from the Children's Oncology Group on PubMed
- Resonance Raman Spectroscopy Detects Ischemia in Experimental Coarctation of the Aorta in a Rodent Model; Feb 19, 2025; pubmed:39971891. View Resonance Raman Spectroscopy Detects Ischemia in Experimental Coarctation of the Aorta in a Rodent Model on PubMed
- Performance of Unmodified Mechanical Ventilators With 2% Hydrogen Gas Mixtures; Feb 19, 2025; pubmed:39969918. View Performance of Unmodified Mechanical Ventilators With 2% Hydrogen Gas Mixtures on PubMed
- Phenotypic rescue via mTOR inhibition in neuron-specific Pten knockout mice reveals AKT and mTORC1-site specific changes; Feb 14, 2025; pubmed:39953287. View Phenotypic rescue via mTOR inhibition in neuron-specific Pten knockout mice reveals AKT and mTORC1-site specific changes on PubMed
- Strabismus in Genetic Syndromes: A Review; Feb 13, 2025; pubmed:39948700. View Strabismus in Genetic Syndromes: A Review on PubMed
- Immune Signatures Identify Patient Subsets Deriving Long-Term Benefit From First-Line Rituximab in Follicular Lymphoma; Feb 10, 2025; pubmed:39927328. View Immune Signatures Identify Patient Subsets Deriving Long-Term Benefit From First-Line Rituximab in Follicular Lymphoma on PubMed
- The neuropsychological profile of SSADH deficiency, a neurotransmitter disorder of GABA metabolism; Feb 7, 2025; pubmed:39919676. View The neuropsychological profile of SSADH deficiency, a neurotransmitter disorder of GABA metabolism on PubMed
- 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 Machine learning enables high-throughput, low-replicate screening for novel anti-seizure targets and compounds using combined movement and calcium fluorescence in larval zebrafish on PubMed
- Feasibility, Usability, and Pilot Efficacy Study of a Software-Enabled, Virtual Pulmonary Rehabilitation with Remote Therapeutic Monitoring; Feb 5, 2025; pubmed:39906676. View Feasibility, Usability, and Pilot Efficacy Study of a Software-Enabled, Virtual Pulmonary Rehabilitation with Remote Therapeutic Monitoring on PubMed
- Dynamic activity of <em>Erg</em> promotes aging of the hematopoietic system; Feb 3, 2025; pubmed:39896635. View Dynamic activity of <em>Erg</em> promotes aging of the hematopoietic system on PubMed
- Path of differentiation defines human macrophage identity; Feb 3, 2025; pubmed:39896569. View Path of differentiation defines human macrophage identity on PubMed
- A methyltransferase-independent role for METTL1 in tRNA aminoacylation and oncogenic transformation; Feb 1, 2025; pubmed:39892392. View A methyltransferase-independent role for METTL1 in tRNA aminoacylation and oncogenic transformation on PubMed
- Using cortical organoids to understand the pathogenesis of malformations of cortical development; Jan 30, 2025; pubmed:39881808. View Using cortical organoids to understand the pathogenesis of malformations of cortical development on PubMed
- Sequence variants in HECTD1 result in a variable neurodevelopmental disorder; Jan 29, 2025; pubmed:39879987. View Sequence variants in HECTD1 result in a variable neurodevelopmental disorder on PubMed
- Human TSC2 mutant cells exhibit aberrations in early neurodevelopment accompanied by changes in the DNA Methylome; Jan 29, 2025; pubmed:39877967. View Human TSC2 mutant cells exhibit aberrations in early neurodevelopment accompanied by changes in the DNA Methylome on PubMed
- 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 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 on PubMed
- Genetic and Molecular Underpinnings of Atrial Fibrillation; Jan 27, 2025; pubmed:39867228. View Genetic and Molecular Underpinnings of Atrial Fibrillation on PubMed
- Heterozygous variants in AP4S1 are not associated with a neurological phenotype; Jan 27, 2025; pubmed:39865903. View Heterozygous variants in AP4S1 are not associated with a neurological phenotype on PubMed
- Chromosome 4 Duplication Associated with Strabismus Leads to Gene Expression Changes in iPSC-Derived Cortical Neurons; Jan 25, 2025; pubmed:39858627. View Chromosome 4 Duplication Associated with Strabismus Leads to Gene Expression Changes in iPSC-Derived Cortical Neurons on PubMed
- Harnessing the potential of human induced pluripotent stem cells, functional assays and machine learning for neurodevelopmental disorders; Jan 23, 2025; pubmed:39844857. View Harnessing the potential of human induced pluripotent stem cells, functional assays and machine learning for neurodevelopmental disorders on PubMed
- Genome-Wide and Rare Variant Association Studies of Amblyopia in the All of Us Research Program; Jan 22, 2025; pubmed:39842729. View Genome-Wide and Rare Variant Association Studies of Amblyopia in the All of Us Research Program on PubMed
- 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 Outcomes for infants with BRUE diagnosed with oropharyngeal dysphagia or gastroesophageal reflux disease: a multicenter study from the Pediatric Health Information System Database on PubMed
- Blended phenotype of TECPR2-associated hereditary sensory-autonomic neuropathy and Temple syndrome; Jan 14, 2025; pubmed:39807687. View Blended phenotype of TECPR2-associated hereditary sensory-autonomic neuropathy and Temple syndrome on PubMed
- AP-4-Associated Hereditary Spastic Paraplegia; Jan 1, 1993; pubmed:30543385. View AP-4-Associated Hereditary Spastic Paraplegia on PubMed