ArticlemedRxiv : the preprint server for health sciences2025
Variants in
Abstract readPreprint
In one paragraph
Article in medRxiv : the preprint server for health sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
- Updated by
Authors and funding
38 authors.
Stacy G GuzmanDepartment of Biochemistry, Biophysics, and Chemical Biology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, 19104, USA.ORCID 0000-0003-0713-0652
Sarah M RuggieroThe Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.ORCID 0000-0002-0834-0750
Shiva GanesanThe Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.
Colin A EllisThe Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.
Alicia G HarrisonThe Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.
Katie R SullivanThe Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.ORCID 0000-0003-1162-337X
Zornitza StarkAustralian Genomics, Melbourne, Australia.
Natasha J BrownAustralian Genomics, Melbourne, Australia.
Sajel L KanaDivision of Clinical Genetics, Genomics, and Metabolism, Nicklaus Children's Hospital, Miami, USA.
Anabelle TuttleGeneDx, Gaithersburg, MD, USA.
Jair TenorioInstituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz-IDIPAZ, 28046 Madrid, Spain.
Pablo LapunzinaInstituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz-IDIPAZ, 28046 Madrid, Spain.
Julián NevadoInstituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz-IDIPAZ, 28046 Madrid, Spain.
Marie T McDonaldDepartment of Pediatrics, Duke University Medical Center, Duke University, Durham, NC, USA.
Courtney JensenChildren's Services, Duke University Health Center, Duke University, Durham, North Carolina, USA.
Patricia G WheelerPediatric Genetics Specialty Practice, Arnold Palmer Hospital for Children, Orlando, Florida, USA.
Lila StangePediatric Genetics Specialty Practice, Arnold Palmer Hospital for Children, Orlando, Florida, USA.
Jennifer MorrisonPediatric Genetics Specialty Practice, Arnold Palmer Hospital for Children, Orlando, Florida, USA.
Boris KerenDepartment of Genetics, La Pitié-Salpêtrière Hospital, APHP, Sorbonne University, Paris, France.
Solveig HeideCytogenetics department, Cochin Hospital, Assistance Publique des Hôpitaux de Paris; Sorbonne Paris Cité, Paris Descartes University, Medical school, Paris, France.
Meg W KeatingGreenwood Genetics Center, Greenwood, SC, USA.
Kameryn M ButlerGreenwood Genetics Center, Greenwood, SC, USA.
Mike A LyonsGreenwood Genetics Center, Greenwood, SC, USA.
Shailly JainDepartment of Medical Genetics, University of Alberta, Edmonton, AB, Canada.
Mehdi YeganehDivision of Medical Genetics, Department of Pediatrics, Faculty of Medicine, Centre Hospitalier Universitaire de Québec, Centre Mère-Enfant Soleil Université Laval Québec City Québec Canada.
Michelle L ThompsonDepartment of Pathology and Immunology, Division of Laboratory and Genomic Medicine, Washington University School of Medicine, St. Louis, MO, USA.
Molly SchroederDepartment of Pathology and Immunology, Division of Laboratory and Genomic Medicine, Washington University School of Medicine, St. Louis, MO, USA.
Hoanh NguyenDepartment of Pathology and Immunology, Division of Laboratory and Genomic Medicine, Washington University School of Medicine, St. Louis, MO, USA.
Jorge GranadilloDivision of Molecular and Human Genetics, Department of Pediatrics, Washington University School of Medicine in St. Louis, St. Louis, MO, USA.
Kari M JohnstonDepartment of Genetics and Metabolism, Texas Children's Hospital, Baylor College of Medicine, Houston, TX, USA.
Chaya N MuraliDepartment of Genetics and Metabolism, Texas Children's Hospital, Baylor College of Medicine, Houston, TX, USA.
Katie BosankoSection of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, AR, USA.
T Andrew BurrowSection of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, AR, USA.
CHOP Birth Defects Biorepository, Penn Medicine Biobank
Syreeta MorganCenter for Applied Genomics, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, United States of America.
Deborah J WatsonCenter for Applied Genomics, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, United States of America.
Hakon HakonarsonCenter for Applied Genomics, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, United States of America.
Ingo HelbigDepartment of Biochemistry, Biophysics, and Chemical Biology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, 19104, USA.ORCID 0000-0001-8486-0558
Funding
Phenotypic Diversity in COVID-19UL1TR001878 · NCATS · UNIVERSITY OF PENNSYLVANIA · PI FITZGERALD, GARRET A · 2016 to 2025
$102.4MA computational phenotyping approach to characterize neurogenetic disordersR01NS131512 · NINDS · CHILDREN'S HOSP OF PHILADELPHIA · PI Ingo Helbig · 2023 to 2026
$2.8MSubgroup delineation in genetic epilepsies and developmental brain disordersR01NS127830 · NINDS · CHILDREN'S HOSP OF PHILADELPHIA · PI Ingo Helbig · 2023 to 2026
$2.8MClinGen Expert Curation Panel for the EpilepsiesU24NS120854 · NINDS · ST. JUDE CHILDREN'S RESEARCH HOSPITAL · PI Ingo Helbig, HEATHER C. MEFFORD · 2021 to 2026
$2.0MNCATS NIH HHS UL1 TR001878NINDS NIH HHS R01 NS127830NINDS NIH HHS R01 NS131512NINDS NIH HHS U24 NS120854Wellcome Trust
Abstract
Disease-causing variants in synaptic function genes are a common cause of neurodevelopmental disorders and epilepsy. Here, we describe 14 individuals with
Indexed as
developmental and epileptic encephalopathyepilepsygenetics
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY-ND
Read underepoch 390
Registered trials
None linked
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.