ReviewGenes2022
Clinical and Genetic Aspects of Phelan-McDermid Syndrome: An Interdisciplinary Approach to Management.
Review in Genes, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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
16 citing papers in PubMed, 25 citations in OpenAlex.
- Prenatal and Postnatal Identification of Phelan-McDermid Syndrome in a Tertiary Referral Center: A 15-Case Series and Literature Review.Journal of clinical medicine · 2026Article
- Prevalence of Phelan McDermid Syndrome Estimated To Be ~1:7300 Using a Multisource Model.Autism research : official journal of the International Society for Autism Research · 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
- SHANK3 and beta-synuclein are novel blood-based biomarkers for the Phelan-McDermid Syndrome: a pilot study.Translational psychiatry · 2026Article
- Metabolic Dysfunction-Associated Steatotic Liver Disease in a Patient with Phelan-McDermid Syndrome.Life (Basel, Switzerland) · 2025Article
- Article
- Characterizing Developmental and Behavioral Profiles in Developmental Synaptopathies to Inform Clinical Trial Endpoints.American journal on intellectual and developmental disabilities · 2025Article
- Genetic changes linked to two different syndromic forms of autism enhance reinforcement learning in early adolescent male but not female mice.bioRxiv : the preprint server for biology · 2025Article
- Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndrome.Orphanet journal of rare diseases · 2025Article
- Diagnosis and treatment of bipolar disorder in Phelan-McDermid syndrome: A case report and review of literature.World journal of psychiatry · 2025Article
- Behavioral and Psychiatric Disorders in Syndromic Autism.Brain sciences · 2024Review
- Closing the gap: Solving complex medically relevant genes at scale.medRxiv : the preprint server for health sciences · 2024Article
- Gastrointestinal Dysfunction in Genetically Defined Neurodevelopmental Disorders.Seminars in neurology · 2023Review
- Striatal increase of dopamine receptor 2 density in idiopathic and syndromic mouse models of autism spectrum disorder.Frontiers in psychiatry · 2023Article
- "Your Life Turns Upside Down": A Qualitative Study of the Experiences of Parents with Children Diagnosed with Phelan-McDermid Syndrome.Children (Basel, Switzerland) · 2022Article
- Descriptive Analysis of Adaptive Behavior in Phelan-McDermid Syndrome and Autism Spectrum Disorder.Frontiers in neuroscience · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 6 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Phelan-McDermid syndrome (PMS) is a rare, heterogeneous, and complex neurodevelopmental disorder. It is generally caused by a heterozygous microdeletion of contiguous genes located in the distal portion of the long arm of chromosome 22, including the
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Identifiers
What OpenQuestion holds
Registered trials
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.