Cited by

• Schuurs-Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review.

  Tenorio-Castaño J, Morte B, Nevado J, Martinez-Glez V, Santos-Simarro F, García-Miñaúr S, Palomares-Bralo M, Pacio-Míguez M, Gómez B, Arias P, Alcochea A, Carrión J, Arias P, Almoguera B, López-Grondona F, Lorda-Sanchez I, Galán-Gómez E, Valenzuela I, Méndez Perez MP, Cuscó I, Barros F, Pié J, Ramos S, Ramos FJ, Kuechler A, Tizzano E, Ayuso C, Kaiser FJ, Pérez-Jurado LA, Carracedo Á, The ENoD-Ciberer Consortium, The Side Consortium, Lapunzina P. Tenorio-Castaño J, et al. Genes (Basel). 2021 May 13;12(5):738. doi: 10.3390/genes12050738. Genes (Basel). 2021. PMID: 34068396 Free PMC article.
• Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot-spot: Two additional Italian patients.

  Bruno LP, Doddato G, Baldassarri M, Rizzo CL, Resciniti S, Bruttini M, Mirjam L, Zguro K, Furini S, Mencarelli MA, Renieri A, Ariani F. Bruno LP, et al. Am J Med Genet A. 2023 Jan;191(1):284-288. doi: 10.1002/ajmg.a.62984. Epub 2022 Oct 9. Am J Med Genet A. 2023. PMID: 36210549 Free PMC article. No abstract available.
• Genetic characterization of Schuurs-Hoeijmakers syndrome in a moroccan individual with heterozygote PACS1 mutation.

  Abbassi M, Bourmtane A, Sayel H, El Mouhi H, Jalte M, Elasri YA, Askander O, El Fahime E, Bouguenouch L. Abbassi M, et al. Mol Biol Rep. 2023 Nov;50(11):9121-9128. doi: 10.1007/s11033-023-08803-9. Epub 2023 Sep 25. Mol Biol Rep. 2023. PMID: 37747683
• A Novel Multi-Exon Deletion of PACS1 in a Three-Generation Pedigree: Supplements to PACS1 Neurodevelopmental Disorder Spectrum.

  Liu Y, Ding H, Yan T, Liu L, Yu L, Huang Y, Li F, Zeng Y, Huang W, Zhang Y, Yin A. Liu Y, et al. Front Genet. 2021 Jul 23;12:690216. doi: 10.3389/fgene.2021.690216. eCollection 2021. Front Genet. 2021. PMID: 34373684 Free PMC article.
• Phosphofurin Acidic Cluster Sorting Protein 1 Syndrome: Insights Gained on the Multisystem Involvement Reviewing Encoded Protein Interactions?

  Thakur S, Paliwal P, Farmania R, Khandelwal V, Garg V. Thakur S, et al. J Pediatr Genet. 2022 Sep 14;13(3):245-249. doi: 10.1055/s-0042-1756310. eCollection 2024 Sep. J Pediatr Genet. 2022. PMID: 39086439 Free PMC article.