ArticleAmerican journal of human genetics2022
De novo variants in ATP2B1 lead to neurodevelopmental delay.
Erratum issuedOpen access · greenAbstract read
In one paragraph
Article in American journal of human genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 14 papers.
0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed
2.0field-weighted citation impact, top 13% 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.
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
14 citing papers in PubMed, 24 citations in OpenAlex.
- De novo variants in NPTN cause a neurodevelopmental disorder with autism and neuroplastin-PMCA hypofunction.Genome medicine · 2026Article
- A novelExperimental biology and medicine (Maywood, N.J.) · 2026Article
- Genetic variants in ESRRG are associated with a dominant non-progressive congenital movement disorder with ataxia.American journal of human genetics · 2025Article
- Article
- Epigenetic mechanisms governing cell type specific somatic expansion and toxicity in Huntington's disease.bioRxiv : the preprint server for biology · 2025Article
- Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia.American journal of human genetics · 2024Article
- Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly.Human genetics · 2024Article
- Protein-protein interaction network-based integration of GWAS and functional data for blood pressure regulation analysis.Human genomics · 2024Article
- Biallelic ATP2B1 variants as a likely cause of a novel neurodevelopmental malformation syndrome with primary hypoparathyroidism.European journal of human genetics : EJHG · 2024Article
- Evaluation of input data modality choices on functional gene embeddings.NAR genomics and bioinformatics · 2023Article
- DNA Methylation of Birthweight-Blood Pressure Genes and Changes of Blood Pressure in Response to Weight-Loss Diets in the POUNDS Lost Trial.Hypertension (Dallas, Tex. : 1979) · 2023Article
- Hypoxic Preconditioned Neural Stem Cell-Derived Extracellular Vesicles Contain Distinct Protein Cargo from Their Normal Counterparts.Current issues in molecular biology · 2023Article
- CaInternational journal of molecular sciences · 2023Article
- The ataxia-linked E1081Q mutation affects the sub-plasma membrane CaCell death & disease · 2022Article
Corrections and comments
- Erratum issued
Authors and funding
36 authors at 17 institutions in 7 countries.
Meer Jacob RahimiInstitute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig 04103, Germany.
Nicole UrbanRudolf-Boehm-Institute of Pharmacology and Toxicology, University of Leipzig Hospitals and Clinics, Leipzig 04107, Germany.
Meret WeglerInstitute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig 04103, Germany.
Heinrich StichtInstitute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen 91054, Germany.
Michael SchaeferRudolf-Boehm-Institute of Pharmacology and Toxicology, University of Leipzig Hospitals and Clinics, Leipzig 04107, Germany.
Bernt PoppInstitute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig 04103, Germany.
Frank GaunitzDepartment of Neurosurgery, University of Leipzig Hospitals and Clinics, Leipzig 04103, Germany.
Manuela MorleoTelethon Institute of Genetics and Medicine, Pozzuoli, 80078 Naples, Italy; Department of Precision Medicine, University of Campania "Luigi Vanvitelli," Naples 80138, Italy.
Vincenzo NigroTelethon Institute of Genetics and Medicine, Pozzuoli, 80078 Naples, Italy; Department of Precision Medicine, University of Campania "Luigi Vanvitelli," Naples 80138, Italy.
Silvia MaitzClinical Pediatric Genetic Unit, Pediatric Clinic, Fondazione MBBM, San Gerardo Hospital, Monza 20900, Italy.
Grazia M S ManciniErasmusMC University Medical Center, Department of Clinical Genetics, Rotterdam 3015, the Netherlands.
Claudia RuivenkampLeiden University Medical Center, Clinical Genetics, Leiden 2333, the Netherlands.
Eun-Kyung SukPraxis für Humangenetik-Friedrichstrasse, Berlin 10117, Germany.
Tobias BartolomaeusInstitute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig 04103, Germany; CeGaT GmbH and Praxis für Humangenetik Tübingen, Tübingen 72076, Germany.
Andreas MerkenschlagerDepartment of Neuropediatrics, University of Leipzig Hospitals and Clinics, Leipzig 04103, Germany.
Daniel KoboldtInstitute for Genomic Medicine at Nationwide Children's Hospital, Columbus, OH 43205, USA.
Dennis BartholomewDivision of Genetic and Genomic Medicine at Nationwide Children's Hospital, Columbus, OH 43205, USA.
Alexander P A StegmannDepartment of Clinical Genetics, Maastricht University Medical Center+, Maastricht 6229, the Netherlands.
Margje SinnemaDepartment of Clinical Genetics, Maastricht University Medical Center+, Maastricht 6229, the Netherlands.
Irma DuynisveldSeverinus Institute for Intellectual Disability, 5507 Veldhoven, the Netherlands.
Ramona SalvarinovaDivision of Biochemical Genetics, Department of Pediatrics, University of British Columbia, BC Children's Hospital, Vancouver, BC V6H 3N1, Canada.
Simone RaceDivision of Biochemical Genetics, Department of Pediatrics, University of British Columbia, BC Children's Hospital, Vancouver, BC V6H 3N1, Canada.
Bert B A de VriesDepartment of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 6525, the Netherlands.
Aurélien TrimouilleService de Pathologie Centre Hospitalier Universitaire de Bordeaux, Bordeaux 33000, France; MRGM, Maladies Rares: Génétique et Métabolisme, INSERM U1211, Université de Bordeaux, Bordeaux 33076, France.
Sophie NaudionService de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, Bordeaux 33076, France.
Daphna MaromThe Genetics Institute, Tel Aviv Sourasky Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6423906, Israel.
Uri HamielThe Genetics Institute, Tel Aviv Sourasky Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6423906, Israel.
Noa HenigThe Genetics Institute, Tel Aviv Sourasky Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6423906, Israel.
Florence DemurgerService de Génértique, CHBA, Vannes 56000, France.
Nils RahnerInstitute for Clinical Genetics, Bonn 53111, Germany.
Enrika BartelsInstitute for Clinical Genetics, Bonn 53111, Germany.
J Austin HammPediatric Genetics, East Tennessee Children's Hospital, Knoxville, TN 37916, USA.
Abbey M PutnamPediatric Genetics, East Tennessee Children's Hospital, Knoxville, TN 37916, USA.
Richard PersonClinical Genomics Program, GeneDx, Inc., Gaithersburg, MD 20877, USA.
Rami Abou JamraInstitute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig 04103, Germany.
Henry OppermannInstitute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig 04103, Germany. Electronic address: henry.oppermann@medizin.uni-leipzig.de.
University Hospital Leipzig · DETel Aviv University · ILEast Tennessee Children's Hospital · USMaastricht University · NLNationwide Children's Hospital · USUniversity of British Columbia · CAUniversity of Campania "Luigi Vanvitelli" · ITAzienda Ospedaliera San Gerardo · ITCentre hospitalier Bretagne Atlantique · FRCentre Hospitalier Universitaire de Bordeaux · FRErasmus MC · NLFriedrich-Alexander-Universität Erlangen-Nürnberg · DELeiden University Medical Center · NLPraxis für Humangenetik · DEPraxis für Humangenetik Tübingen · DERadboud University Nijmegen · NLUniversité de Bordeaux · FR
Funding
No grant is acknowledged in the PubMed record.
Abstract
Calcium (Ca
Indexed as
Intellectual DisabilityNervous System MalformationsNeurodevelopmental DisordersHEK293 CellsHumansMutation, MissensePhenotypePlasma Membrane Calcium-Transporting ATPasesATP2B1 protein, humanPlasma Membrane Calcium-Transporting ATPasesabnormal behaviorATP2B1calcium homeostasisde novodevelopment delayintellectual disabilityneurodevelopmental disorderseizure
Identifiers
What OpenQuestion holds
Textmetadata
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.