ArticleFrontiers in cell and developmental biology2022
The different clinical facets of
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Article in Frontiers in cell and developmental biology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
4.9field-weighted citation impact, top 4% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
13 citing papers in PubMed, 28 citations in OpenAlex.
- R-loop landscapes in the developing human brain are linked to neural differentiation and cell type-specific transcription.Translational psychiatry · 2026Article
- Multi-modal tissue-aware graph neural network forbioRxiv : the preprint server for biology · 2026Article
- Genetic-Epigenetic Interplay in Epilepsy: Pathways, Biomarkers, and Epigenome-Targeted Therapies.Epigenomes · 2026Review
- Baihe Dihuang Tang Exerts Antidepressant Effects via Modulation of MAOA-Mediated Serotonin Metabolism and Synaptic Plasticity.Pharmaceuticals (Basel, Switzerland) · 2025Article
- Impaired Aggrephagy, Interrupted Vesicular Trafficking, and Cellular Stress, Lead to Protein Aggregation, and Synaptic Dysfunction in Cerebellum of Children and Adults with Idiopathic Autism.Cerebellum (London, England) · 2025Article
- Integrated multi-omic characterizations of the synapse reveal RNA processing factors and ubiquitin ligases associated with neurodevelopmental disorders.Cell systems · 2025Article
- Neuroendocrine Control of Synaptic Transmission by PHAC-1 inThe Journal of neuroscience : the official journal of the Society for Neuroscience · 2025Article
- Neuronal hyperactivity in neurons derived from individuals with gray matter heterotopia.Nature communications · 2025Article
- Article
- Electro-Clinical Features and Functional Connectivity Analysis in SYN1-Related Epilepsy.Annals of neurology · 2024Article
- Identification of molecular signatures defines the differential proteostasis response in induced spinal and cranial motor neurons.Cell reports · 2024Article
- Article
- Apnea of prematurity induces short and long-term development-related transcriptional changes in the murine cerebellum.Current research in neurobiology · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
52 authors at 20 institutions in 9 countries.
Ilaria ParentiInstitute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
Elsa LeitãoInstitute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
Alma KuechlerInstitute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
Laurent VillardINSERM, MMG, Faculté de Médecine, Aix-Marseille University, Marseille, France.
Cyril GoizetService de Génétique Médicale, Bordeaux, France.
Cécile CourdierService de Génétique Médicale, Bordeaux, France.
Allan BayatInstitute for Regional Health Services, University of Southern Denmark, Odense, Denmark.
Alessandra RossiDepartment of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.
Sophie JuliaService de Génétique Médicale, Pôle de Biologie, CHU de Toulouse - Hôpital Purpan, Toulouse, France.
Ange-Line BruelUnité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.
Frédéric Tran Mau-ThemUnité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.
Sophie NambotUMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France.
Daphné LehalleUnité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.
Marjolaine WillemsDepartment of Medical Genetics, Rare diseases and Personalized Medicine, CHU Montpellier, University of Montpellier, Montpellier, France.
James LespinasseService de Cytogenetique, Centre Hospitalier de Chambéry, Chambéry, France.
Jamal GhoumidUniv. Lille, ULR7364 RADEME, Lille, France.
Roseline CaumesUniv. Lille, ULR7364 RADEME, Lille, France.
Thomas SmolUniv. Lille, ULR7364 RADEME, Lille, France.
Salima El ChehadehService de Génétique Médicale, Institut de Génétique Médicale d'Alsace (IGMA), Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, Strasbourg, France.
Elise SchaeferService de Génétique Médicale, Institut de Génétique Médicale d'Alsace (IGMA), Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, Strasbourg, France.
Marie-Thérèse Abi-WardeDépartement de NeuroPédiatrie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
Boris KerenAPHP, Département de Génétique, UF de Génomique du Développement, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, Sorbonne Université, Paris, France.
Alexandra AfenjarDépartement de Génétique, Centre de Référence déficiences Intellectuelles de Causes Rares, APHP, Hôpital Armand Trousseau, Sorbonne Université, Paris, France.
Anne-Claude TabetAPHP, Département de Génétique, Hôpital Robert-Debré, Paris, France.
Jonathan LevyAPHP, Département de Génétique, Hôpital Robert-Debré, Paris, France.
Anna MaruaniDepartment of Child and Adolescent Psychiatry, Robert Debré Hospital, APHP, Paris, France.
Ángel Aledo-SerranoEpilepsy and Neurogenetics Program, Neurology Department, Ruber Internacional Hospital, Madrid, Spain.
Waltraud GarmingSozialpädiatrisches Zentrum, Kinder-und Jugendklinik Gelsenkirchen, Gelsenkirchen, Germany.
Clara Milleret-PignotService de Pédiatrie, CH de Mâcon, Mâcon, France.
Anna ChasseventDepartment of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, United States.
Marije KoopmansDepartment of Genetics, Utrecht University Medical Center, Utrecht, Netherlands.
Nienke E VerbeekDepartment of Genetics, Utrecht University Medical Center, Utrecht, Netherlands.
Richard PersonGeneDx, Gaithersburg, MD, United States.
Rebecca BellesMedical Genetics, Geisinger Medical Center, Danville, PA, United States.
Gary BellusMedical Genetics, Geisinger Medical Center, Danville, PA, United States.
Bonnie A SalbertMedical Genetics, Geisinger Medical Center, Danville, PA, United States.
Frank J KaiserInstitute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
Laure MazzolaDepartment of Neurology, University Hospital, Lyon Neuroscience Research Center (CRNL), INSERM U1028, CNRS UMR5292, Lyon, France.
Philippe ConversDepartment of Neurology, University Hospital, Lyon Neuroscience Research Center (CRNL), INSERM U1028, CNRS UMR5292, Lyon, France.
Laurine PerrinDepartment of Paediatric Physical Medicine and Rehabilitation, CHU Saint-Étienne, Hôpital Bellevue, Rhône-Alpes Reference Centre for Neuromuscular Diseases, Saint-Étienne, France.
Amélie PitonInstitut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.
Gert WiegandDivision of Pediatric Neurology, Department of Pediatrics, Asklepios Klinik Nord-Heidberg, Hamburg, Germany.
Andrea AccogliDepartment of Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, Montreal, Qc, Canada.
Francesco BrancatiDepartment of Life, Human Genetics, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy.
Fabio BenfenatiCenter for Synaptic Neuroscience and Technology, Istituto Italiano di Tecnologia, Geneva, Italy.
Nicolas ChatronService de Genetique, Hospices Civils de Lyon, Bron, France.
David Lewis-SmithTranslational and Clinical Research Institute, Newcastle University, Newcastle Upon Tyne, United Kingdom.
Rhys H ThomasTranslational and Clinical Research Institute, Newcastle University, Newcastle Upon Tyne, United Kingdom.
Federico ZaraIRCCS G. Gaslini, Genova, Italy.
Pasquale StrianoIRCCS G. Gaslini, Genova, Italy.
Gaetan LescaService de Genetique, Hospices Civils de Lyon, Bron, France.
Christel DepienneInstitute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
University of Duisburg-Essen · DEAssistance Publique – Hôpitaux de Paris · FRGeisinger Medical Center · USHôpitaux Universitaires de Strasbourg · FRCentre Hospitalier Universitaire de Saint-Étienne · FRCentre National de la Recherche Scientifique · FRCHU Dijon Bourgogne · FRHôpital Robert-Debré · FRIstituti di Ricovero e Cura a Carattere Scientifico · ITUniversité de Lille · FRAix-Marseille Université · FRAsklepios Kliniken Hamburg · DECentre Hospitalier Métropole Savoie · FRCentre Hospitalier Universitaire de Lille · FRCentre Hospitalier Universitaire de Toulouse · FREssen University Hospital · DEEvangelische Kliniken Gelsenkirchen · DEHospices Civils de Lyon · FRHospital Ruber Internacional · ESInserm · FR
Funding
No grant is acknowledged in the PubMed record.
Abstract
Synapsin-I (SYN1) is a presynaptic phosphoprotein crucial for synaptogenesis and synaptic plasticity. Pathogenic
Indexed as
autism spectrum disordersgenotype-phenotype correlationneurodevelopmental disordersreflex epilepsySYN1synapsins
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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 OpenQuestion graph.