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Detection of Imprinted Genes by Single-Cell Allele-Specific Gene Expression.
Santoni FA, Stamoulis G, Garieri M, Falconnet E, Ribaux P, Borel C, Antonarakis SE. Santoni FA, et al. Among authors: stamoulis g. Am J Hum Genet. 2017 Mar 2;100(3):444-453. doi: 10.1016/j.ajhg.2017.01.028. Epub 2017 Feb 9. Am J Hum Genet. 2017. PMID: 28190458 Free PMC article.
The Application of Knowledge Engineering via the Use of a Biomimetic Digital Twin Ecosystem, Phenotype-Driven Variant Analysis, and Exome Sequencing to Understand the Molecular Mechanisms of Disease.
Kearns WG, Stamoulis JG, Glick J, Baisch L, Benner A, Brough D, Du L, Wilson B, Kearns L, Ng N, Seshan M, Anchan R. Kearns WG, et al. Among authors: stamoulis jg. J Mol Diagn. 2024 Mar 29:S1525-1578(24)00062-X. doi: 10.1016/j.jmoldx.2024.03.004. Online ahead of print. J Mol Diagn. 2024. PMID: 38556123 Free article.
Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families.
Makrythanasis P, Nelis M, Santoni FA, Guipponi M, Vannier A, Béna F, Gimelli S, Stathaki E, Temtamy S, Mégarbané A, Masri A, Aglan MS, Zaki MS, Bottani A, Fokstuen S, Gwanmesia L, Aliferis K, Bustamante Eduardo M, Stamoulis G, Psoni S, Kitsiou-Tzeli S, Fryssira H, Kanavakis E, Al-Allawi N, Sefiani A, Al Hait S, Elalaoui SC, Jalkh N, Al-Gazali L, Al-Jasmi F, Bouhamed HC, Abdalla E, Cooper DN, Hamamy H, Antonarakis SE. Makrythanasis P, et al. Among authors: stamoulis g. Hum Mutat. 2014 Oct;35(10):1203-10. doi: 10.1002/humu.22617. Epub 2014 Aug 18. Hum Mutat. 2014. PMID: 25044680
A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD).
Giorgio E, Robyr D, Spielmann M, Ferrero E, Di Gregorio E, Imperiale D, Vaula G, Stamoulis G, Santoni F, Atzori C, Gasparini L, Ferrera D, Canale C, Guipponi M, Pennacchio LA, Antonarakis SE, Brussino A, Brusco A. Giorgio E, et al. Among authors: stamoulis g. Hum Mol Genet. 2015 Jun 1;24(11):3143-54. doi: 10.1093/hmg/ddv065. Epub 2015 Feb 20. Hum Mol Genet. 2015. PMID: 25701871 Free PMC article.