ArticleNPJ genomic medicine2017
A framework to identify contributing genes in patients with Phelan-McDermid syndrome.
Erratum issuedOpen access · goldAbstract read
In one paragraph
Article in NPJ genomic medicine, 2017. 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 46 papers, 2 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
46citing papers in PubMed, 2 pooled it
7.0field-weighted citation impact, top 3% 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
46 citing papers in PubMed, 2 syntheses or guidelines pooled it, 79 citations in OpenAlex.
- Phelan-McDermid syndrome-associated psychosis: a systematic review.Acta neuropsychiatrica · 2024Pooled it
- Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature.Molecular autism · 2019Pooled it
- Unilateral childhood-onset glaucoma associated with Phelan-McDermid syndrome.American journal of ophthalmology case reports · 2026Article
- Chromosome 22q13 terminal deletion size is associated with relevant clinical features in a sample of 63 Italian patients with Phelan-McDermid syndrome.Journal of neurodevelopmental disorders · 2026Article
- Heightened empathic responses led by imbalanced cortico-amygdala circuit inbioRxiv : the preprint server for biology · 2025Article
- Genotype-Phenotype Associations in Phelan-McDermid Syndrome: Insights into Novel Genes BeyondInternational journal of molecular sciences · 2025Article
- EEG abnormalities in a 3-year-old child with developmental delay and autistic-like behavior: a case of Phelan-McDermid syndrome.Acta neurologica Belgica · 2025Article
- Aortic Root Dilation and Genotype Associations in Phelan-McDermid Syndrome.American journal of medical genetics. Part A · 2025Article
- Phelan-McDermid Syndrome in Spanish children: gastrointestinal manifestations in relation to nutritional intake.Frontiers in nutrition · 2025Article
- Clinical, developmental and serotonemia phenotyping of a sample of 70 Italian patients with Phelan-McDermid Syndrome.Journal of neurodevelopmental disorders · 2024Article
- Phenome-wide profiling identifies genotype-phenotype associations in Phelan-McDermid syndrome using family-sourced data from an international registry.Molecular autism · 2024Article
- Evidence for common mechanisms of pathology between SHANK3 and other genes of Phelan-McDermid syndrome.Clinical genetics · 2024Review
- Article
- Mechanisms of copy number variants in neuropsychiatric disorders: From genes to therapeutics.Current opinion in neurobiology · 2023Review
- Neurodegeneration or dysfunction in Phelan-McDermid syndrome? A multimodal approach with CSF and computational MRI.Orphanet journal of rare diseases · 2023Article
- Updated consensus guidelines on the management of Phelan-McDermid syndrome.American journal of medical genetics. Part A · 2023Review
- Phenotypic effects of genetic variants associated with autism.Nature medicine · 2023Article
- Article
- Review
- Bridging the translational gap: what can synaptopathies tell us about autism?Frontiers in molecular neuroscience · 2023Review
Corrections and comments
- Erratum issued
Authors and funding
62 authors at 15 institutions in 1 country.
Anne-Claude Tabet *Genetics Department, Robert Debré Hospital, APHP, Paris, France.ORCID 0000-0003-2910-7744
Thomas Rolland *Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France.
Marie DucloyHuman Genetics and Cognitive Functions, Institut Pasteur, Paris, France.
Jonathan LévyGenetics Department, Robert Debré Hospital, APHP, Paris, France.
Julien BurattiHuman Genetics and Cognitive Functions, Institut Pasteur, Paris, France.
Alexandre MathieuHuman Genetics and Cognitive Functions, Institut Pasteur, Paris, France.
Damien HayeGenetics Department, Robert Debré Hospital, APHP, Paris, France.
Laurence PerrinGenetics Department, Robert Debré Hospital, APHP, Paris, France.
Céline DupontGenetics Department, Robert Debré Hospital, APHP, Paris, France.ORCID 0000-0001-8329-0346
Sandrine PassemardGenetics Department, Robert Debré Hospital, APHP, Paris, France.
Yline CapriGenetics Department, Robert Debré Hospital, APHP, Paris, France.
Alain VerloesGenetics Department, Robert Debré Hospital, APHP, Paris, France.
Séverine DrunatGenetics Department, Robert Debré Hospital, APHP, Paris, France.
Boris KerenCytogenetics Unit, Pitié Salpetrière Hospital, APHP, Paris, France.
Cyril MignotNeurogenetics Unit, Pitié Salpetrière Hospital, APHP, Paris, France.
Isabelle MareyClinical Genetics Unit, Pitié Salpetrière Hospital, APHP, Paris, France.
Aurélia JacquetteClinical Genetics Unit, Pitié Salpetrière Hospital, APHP, Paris, France.
Sandra WhalenClinical Genetics Unit, Pitié Salpetrière Hospital, APHP, Paris, France.
Eva PipirasCytogenetics Unit, Jean Verdier Hospital, APHP, Bondy, France.
Brigitte BenzackenCytogenetics Unit, Jean Verdier Hospital, APHP, Bondy, France.
Sandra Chantot-BastaraudCytogenetics Unit, Trousseau Hospital, APHP, Paris, France.
Alexandra AfenjarClinical Genetics Unit, Trousseau Hospital, APHP, Paris, France.
Delphine HéronClinical Genetics Unit, Trousseau Hospital, APHP, Paris, France.
Cédric Le CaignecClinical Genetics Unit, Nantes Hospital, Nantes, France.
Claire BeneteauClinical Genetics Unit, Nantes Hospital, Nantes, France.
Olivier PichonClinical Genetics Unit, Nantes Hospital, Nantes, France.
Bertrand IsidorClinical Genetics Unit, Nantes Hospital, Nantes, France.
Albert DavidClinical Genetics Unit, Nantes Hospital, Nantes, France.
Laila El KhattabiCytogenetics Unit, Cochin Hospital, APHP, Paris, France.
Stephan KemenyGenetics Unit, CHU Estaing, Clermont-Ferrand, France.
Laetitia GouasGenetics Unit, CHU Estaing, Clermont-Ferrand, France.
Philippe VagoGenetics Unit, CHU Estaing, Clermont-Ferrand, France.
Anne-Laure Mosca-BoidronCytogenetics Unit, Dijon Hospital, Dijon, France.
Laurence FaivreClinical Genetics Unit, Dijon Hospital, Dijon, France.
Chantal MissirianGenetics Unit, La Timone Hospital, Marseille, France.
Nicole PhilipGenetics Unit, La Timone Hospital, Marseille, France.
Damien SanlavilleCytogenetics Unit, Lyon Civil Hospital, Lyon, France.
Patrick EderyClinical Genetics Unit, Lyon Civil Hospital, Lyon, France.
Véronique SatreCytogenetics Unit, Grenoble Hospital, Grenoble, France.
Charles CouttonCytogenetics Unit, Grenoble Hospital, Grenoble, France.
Françoise DevillardCytogenetics Unit, Grenoble Hospital, Grenoble, France.
Klaus DieterichClinical Genetics Unit, Grenoble Hospital, Grenoble, France.
Marie-Laure VuillaumeGenetics Unit, Bordeaux Hospital, Bordeaux, France.
Caroline RooryckGenetics Unit, Bordeaux Hospital, Bordeaux, France.
Didier LacombeGenetics Unit, Bordeaux Hospital, Bordeaux, France.
Lucile PinsonGenetics Unit, Montpellier Hospital, Montpellier, France.
Vincent GatinoisGenetics Unit, Montpellier Hospital, Montpellier, France.
Jacques PuechbertyGenetics Unit, Montpellier Hospital, Montpellier, France.
Jean ChiesaGenetics Unit, CHRU Nimes, Nimes, France.
James LespinasseCytogenetics Unit, Chambéry-Hôtel-Dieu Hospital, Chambéry, France.
Christèle DubourgGenetics Unit, CHU Rennes, Rennes, France.
Chloé QuelinGenetics Unit, CHU Rennes, Rennes, France.
Mélanie FradinGenetics Unit, CHU Rennes, Rennes, France.
Hubert JournelGenetics Unit, Chubert Hospital, Vannes, France.
Annick ToutainGenetics Unit, Bretonneau Hospital, Tours, France.
Dominique MartinGenetics Unit, CH Le Mans, Le Mans, France.
Abdelamdjid BenmansourGenetics Department, Robert Debré Hospital, APHP, Paris, France.
Claire S LeblondHuman Genetics and Cognitive Functions, Institut Pasteur, Paris, France.
Roberto ToroHuman Genetics and Cognitive Functions, Institut Pasteur, Paris, France.
Frédérique AmsellemDepartment of Child and Adolescent Psychiatry, Robert Debré Hospital, APHP, Paris, France.
Richard DelormeHuman Genetics and Cognitive Functions, Institut Pasteur, Paris, France.
Thomas BourgeronHuman Genetics and Cognitive Functions, Institut Pasteur, Paris, France.
Assistance Publique – Hôpitaux de Paris · FRCentre National de la Recherche Scientifique · FRSorbonne Université · FRBordeaux Population Health · FRCentre Hospitalier Universitaire de Clermont-Ferrand · FRCentre Hospitalier Universitaire de Montpellier · FRCentre Hospitalier Universitaire de Rennes · FRHôpital de la Timone · FRHôpital Jean-Verdier · FRCentre hospitalier Bretagne Atlantique · FRCentre Hospitalier du Mans · FRCentre Hospitalier Universitaire de Tours · FRHôpital Cochin · FRMaison des Sciences sociales et des Humanités de Dijon · FRUniversité de Nîmes · FR
Funding
No grant is acknowledged in the PubMed record.
Abstract
Phelan-McDermid syndrome (PMS) is characterized by a variety of clinical symptoms with heterogeneous degrees of severity, including intellectual disability (ID), absent or delayed speech, and autism spectrum disorders (ASD). It results from a deletion of the distal part of chromosome 22q13 that in most cases includes the
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY
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.