ArticleFrontiers in genetics2023
Genotype and clinical characteristics of patients with Wolfram syndrome and WFS1-related disorders.
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Article in Frontiers in genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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31citing papers in PubMed
5.4field-weighted citation impact, top 4% of its field
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Who cites it
31 citing papers in PubMed, 26 citations in OpenAlex.
- Hypotheses on physiopathogenic mechanisms of fecal incontinence in Wolfram syndrome.IBRO neuroscience reports · 2026Article
- Wolfram syndrome and diabetes mellitus in Aotearoa, New Zealand: Phenotype and response to GLP-1 receptor agonist therapy.Diabetic medicine : a journal of the British Diabetic Association · 2026Article
- Consensus Recommendations for the Clinical Management of Wolfram syndrome Using a Delphi Method.medRxiv : the preprint server for health sciences · 2026Article
- Wolfram syndrome: A perspective on gene editing as a therapeutic strategy.Neural regeneration research · 2026Article
- Genotype-Based Severity Scoring System in Wolfram Syndrome: Correlation with Onset of Cardinal Symptoms andmedRxiv : the preprint server for health sciences · 2026Article
- Phase II trial of sodium phenylbutyrate and taurursodiol in Wolfram syndrome.The Journal of clinical investigation · 2026Article
- Selected Brain Metabolites and Mitochondrial DNA Copy Number as Potential Markers of Ongoing Neurodegeneration in Patients with Wolfram Syndrome.Metabolites · 2026Article
- Natural history of 15 patients with autosomal dominant WFS1 pathogenic variants associated with sensorineural hearing loss and optic atrophy.Orphanet journal of rare diseases · 2026Article
- Pregnancy and Peripartum Multidisciplinary Management in Wolfram Syndrome Type 1: A Case Report.Diagnostics (Basel, Switzerland) · 2026Article
- Evaluating the Use of GLP-1 Receptor Agonists in Wolfram syndrome Patients.medRxiv : the preprint server for health sciences · 2026Article
- Synaptic Alterations Are Preceding the Axonal Loss in Optic Atrophy of Wolfram Syndrome Mouse Model.bioRxiv : the preprint server for biology · 2026Article
- Advances in Research on Endoplasmic Reticulum-Associated Degradation Mechanisms in Neurodegenerative Diseases.Cellular and molecular neurobiology · 2026Review
- Synaptic alterations are preceding the axonal loss in optic atrophy of Wolfram syndrome mouse model.Frontiers in neuroscience · 2026Article
- Genotype-based severity scoring system in Wolfram Syndrome: correlation with onset of cardinal symptoms andFrontiers in genetics · 2026Article
- Evaluating the use of GLP-1 receptor agonists in Wolfram syndrome patients.Frontiers in endocrinology · 2026Article
- Phenotype Correlations of Neurological Manifestations in Wolfram Syndrome: Predictive Modeling in a Spanish Cohort.Diagnostics (Basel, Switzerland) · 2025Article
- Extracellular vesicle R-Ras is a potential biomarker for human peripheral artery disease.iScience · 2025Article
- Long-term follow-up of pancreatic islet transplantation in a patient with Wolfram syndrome: a case report.Acta diabetologica · 2025Article
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Authors and funding
16 authors at 5 institutions in 2 countries.
Evan M LeeDivision of Endocrinology and Lipid Research, Department of Medicine, Washington University School of Medicine, St. Louis, MO, United States.
Megha VermaDivision of Endocrinology and Lipid Research, Department of Medicine, Washington University School of Medicine, St. Louis, MO, United States.
Nila PalaniappanDivision of Endocrinology and Lipid Research, Department of Medicine, Washington University School of Medicine, St. Louis, MO, United States.
Emiko M PopeDivision of Endocrinology and Lipid Research, Department of Medicine, Washington University School of Medicine, St. Louis, MO, United States.
Sammie LeeDivision of Endocrinology and Lipid Research, Department of Medicine, Washington University School of Medicine, St. Louis, MO, United States.
Lindsey BlacherDivision of Endocrinology and Lipid Research, Department of Medicine, Washington University School of Medicine, St. Louis, MO, United States.
Pooja NeerumallaDivision of Endocrinology and Lipid Research, Department of Medicine, Washington University School of Medicine, St. Louis, MO, United States.
William AnDivision of Endocrinology and Lipid Research, Department of Medicine, Washington University School of Medicine, St. Louis, MO, United States.
Toko CampbellDivision of Endocrinology and Lipid Research, Department of Medicine, Washington University School of Medicine, St. Louis, MO, United States.
Cris BrownDivision of Endocrinology and Lipid Research, Department of Medicine, Washington University School of Medicine, St. Louis, MO, United States.
Stacy HurstDivision of Endocrinology and Lipid Research, Department of Medicine, Washington University School of Medicine, St. Louis, MO, United States.
Bess MarshallDepartment of Pediatrics, Washington University School of Medicine, St. Louis, MO, United States.
Tamara HersheyDepartments of Psychiatry and Radiology, Washington University School of Medicine, St. Louis, MO, United States.
Virginia NunesMolecular Genetics Laboratory, Genes Disease and Therapy Program IDIBELL, L'Hospitalet de Llobregat, Barcelona, Spain.
Miguel López de HerediaCentre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.
Fumihiko UranoDivision of Endocrinology and Lipid Research, Department of Medicine, Washington University School of Medicine, St. Louis, MO, United States.
Washington University in St. Louis · USInstitut d'Investigació Biomédica de Bellvitge · ESInstituto de Salud Carlos III · ESSaint Louis University · USUniversity of Missouri–Kansas City · US
Funding
WU INSTITUTE OF CLINICAL AND TRANSLATIONAL SCIENCESUL1TR002345 · NCATS · WASHINGTON UNIVERSITY · PI William G. Powderly · 2017 to 2026
$97.8MNATIONAL RESEARCH SERVICE AWARD-MEDICAL SCIENTISTT32GM007200 · NIGMS · WASHINGTON UNIVERSITY · PI YOKOYAMA, WAYNE M. · 1985 to 2024
$59.8MWashington University Institute of Clinical and Translational SciencesUL1TR000448 · NCATS · WASHINGTON UNIVERSITY · PI EVANOFF, BRADLEY A · 2012 to 2016
$41.4MWU P&FP30DK020579 · NIDDK · WASHINGTON UNIVERSITY · PI Clay F. Semenkovich · 2013 to 2026
$27.1MTRANSGENICS COREP60DK020579 · NIDDK · WASHINGTON UNIVERSITY · PI SCHAFFER, JEAN E. · 1986 to 2012
$25.2MMolecular Genetics of Hereditary Endoplasmic Reticulum DiabetesR01DK132090 · NIDDK · WASHINGTON UNIVERSITY · PI JANGA, SARATH CHANDRA, URANO, FUMIHIKO · 2022 to 2025
$2.2MENDOPLASMIC RETICULUM IN BETA CELLSR01DK112921 · NIDDK · WASHINGTON UNIVERSITY · PI URANO, FUMIHIKO · 2017 to 2019
$1.1MAN ENDOPLASMIC RETICULUM CALCIUM STABILIZER FOR THE TREATMENT OF WOLFRAM SYNDROMEUH2TR002065 · NCATS · WASHINGTON UNIVERSITY · PI URANO, FUMIHIKO · 2017 to 2018
$604kAN ENDOPLASMIC RETICULUM CALCIUM STABILIZER FOR THE TREATMENT OF WOLFRAM SYNDROMEUH3TR002065 · NCATS · WASHINGTON UNIVERSITY · PI URANO, FUMIHIKO · 2019 to 2019
$153kNCATS NIH HHS UH2 TR002065NCATS NIH HHS UH3 TR002065NCATS NIH HHS UL1 TR000448NCATS NIH HHS UL1 TR002345NIDDK NIH HHS P30 DK020579NIDDK NIH HHS P60 DK020579NIDDK NIH HHS R01 DK112921NIDDK NIH HHS R01 DK132090NIGMS NIH HHS T32 GM007200
Abstract
PubMed holds no abstract for this paper.
Indexed as
diabetes insipidusdiabetes mellitusgenotype phenotype correlationhearing lossoptic atrophyWFS1-related disorderswolfram syndrome
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.