ArticleFrontiers in genetics2022
Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals.
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Article in Frontiers in genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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31citing papers in PubMed
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31 citing papers in PubMed, 51 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
- Review
- Inflammation increases the penetrance of behavioral impairment in Shank3 haploinsufficiency mice - can it explain the behavioral regression in Autism?Molecular psychiatry · 2026Article
- Craniofacial Dysmorphology Associated With Phelan-McDermid Syndrome Using Three-Dimensional Morphometrics.Clinical genetics · 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
- Article
- Neurophysiological Profiles in a Family with Multiple SHANK3-Related Phelan-McDermid Syndrome Cases.International journal of molecular sciences · 2026Article
- The challenge of ultra-rarity: Dual diagnosis of Lafora disease and developmental encephalopathies linked to TRIO and SHANK3 pathogenic variants.Epilepsia open · 2025Article
- Inflammation increases the penetrance of behavioral impairment inbioRxiv : the preprint server for biology · 2025Article
- A Frank Assessment of SHANK: Impacts of Pathogenic Variations in SHANK3 on Preclinical Models of Phelan McDermid Syndrome.Autism research : official journal of the International Society for Autism Research · 2025Review
- Article
- Genotype-Phenotype Associations in Phelan-McDermid Syndrome: Insights into Novel Genes BeyondInternational journal of molecular sciences · 2025Article
- Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndrome.Orphanet journal of rare diseases · 2025Article
- Identification of a cryptic unbalanced translocation Der(22)t(12;22)(q24.33;q13.33) in a large Chinese family with Phelan-McDermid syndrome by nanopore sequencing.Scientific reports · 2025Article
- Phenotype and psychometric characterization of Phelan-McDermid syndrome patients: pioneering towards personalized medicine.Frontiers in psychiatry · 2025Article
- Phenome-wide profiling identifies genotype-phenotype associations in Phelan-McDermid syndrome using family-sourced data from an international registry.Molecular autism · 2024Article
- Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome.Journal of neurodevelopmental disorders · 2024Article
- Evidence for common mechanisms of pathology between SHANK3 and other genes of Phelan-McDermid syndrome.Clinical genetics · 2024Review
- Genetics of kidney disorders in Phelan-McDermid syndrome: evidence from 357 registry participants.Pediatric nephrology (Berlin, Germany) · 2024Article
- Understanding the role of AMPA receptors in autism: insights from circuit and synapse dysfunction.Frontiers in psychiatry · 2024Review
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Authors and funding
38 authors at 20 institutions in 4 countries.
Julián NevadoInstituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.
Sixto García-MiñaúrInstituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.
María Palomares-BraloInstituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.
Elena VallespínInstituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.
Encarna Guillén-NavarroHospital Virgen de la Arrixaca, Murcia, Spain.
Jordi RosellHospital Son Espases, Palma de Mallorca, Spain.
Cristina Bel-FenellósDepartamento de Investigación y Psicología en Educación, Facultad de Educación, UCM, Madrid, Spain.
María Ángeles MoriInstituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.
Montserrat MiláHospital Clinic, Barcelona, Spain.
Miguel Del CampoHospital Vall D'Hebron, Barcelona, Spain.
Pilar BarrúzInstituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.
Fernando Santos-SimarroInstituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.
Gabriela ObregónHospìtal Juan P. Garrahan, Buenos Aires, Argentina.
Carmen OrellanaHospital La Fé, Valencia, Spain.
Harry PachajoaUniversidad Icesi, Cali, Colombia.
Jair Antonio TenorioInstituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.
Enrique GalánHospital Materno-Infantil Infanta Cristina, Badajoz, Spain.
Juan C CigudosaNIM-Genetics Madrid, Alcobendas, Spain.
Angélica MorescoHospìtal Juan P. Garrahan, Buenos Aires, Argentina.
César SalemeMaternity Nuestra Señora de la Merced, Tucumán, Argentina.
Silvia CastilloSección Genética, Hospital Clínico Universidad de Chile, Santiago, Chile.
Elisabeth GabauCorporación Sanitaria Parc Taulí, Barcelona, Spain.
Luis Pérez-JuradoCIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.
Ana BarciaHospital Universitario Virgen del Rocío, Sevilla, Spain.
Maria Soledad MartínInstituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.
Elena MansillaInstituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.
Isabel VallcorbaInstituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.
Pedro García-MurilloUnidad de Genética, Hospital Virgen de la Salud, Toledo, Spain.
Franco Cammarata-ScalisiServicio de Pediatría, Hospital Regional de Antofagasta, Antofagasta, Chile.
Natálya Gonçalves PereiraClínica Reprodutiva NIDUS, Juiz de Fora, Brasil.
Raquel Blanco-LagoServicio de Neuropediatría, Hospital Universitario Central de Asturias, Oviedo (Asturias), Spain.
Mercedes SerranoUnidad de Neuropediatría, Hospital San Joan de Deu, Barcelona, Spain.
Juan Dario Ortigoza-EscobarUnidad de Neuropediatría, Hospital San Joan de Deu, Barcelona, Spain.
Blanca GenerHospital Universitario de Cruces, Bilbao, Spain.
Verónica Adriana SeidelServicio de Genética Clínica, Hospital Universitario Gregorio Marañon, Madrid, Spain.
Pilar TiradoServicio de Neuropediatría, Hospital Universitario La Paz, Madrid, Spain.
Pablo LapunzinaInstituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.
Spanish PMS Working Group
Instituto de Salud Carlos III · ESHospital Universitario La Paz · ESCentro de Investigación Biomédica en Red · ESGarrahan Hospital · ARHospital Sant Joan de Déu Barcelona · ESCentre for Biomedical Network Research on Rare Diseases · ESCorporació Sanitària Parc Taulí · ESDepartamento de Educación · ESHospital Clínic de Barcelona · ESHospital Clínico de la Universidad de Chile · CLHospital de Cruces · ESHospital General Universitario Gregorio Marañón · ESHospital Materno-Infantil · ESHospital Regional de Antofagasta · CLHospital Universitario Central de Asturias · ESHospital Universitario Son Espases · ESHospital Universitario Virgen de la Arrixaca · ESHospital Universitario Virgen del Rocío · ESHospital Virgen de la Salud · ESIcesi University · CO
Funding
No grant is acknowledged in the PubMed record.
Abstract
Phelan-McDermid syndrome (PMS, OMIM# 606232) results from either different rearrangements at the distal region of the long arm of chromosome 22 (22q13.3) or pathogenic sequence variants in the
Indexed as
22q13 deletion syndromeautistic behaviorintellectual disabilities (ID)Phelan-McDermid syndrome (PMS)SHANK3subtelomeric deletion syndrome
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