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1
IL-1R/IL-6R blockade for null NLRP12 variant-carrying Takayasu arteritis.

von Argyropoulou OD ; Marinakis NM ; Charalampopoulos G ; et al.

Rheumatology (Oxford, England) [Rheumatology (Oxford)] 2026 Jan 08; Vol. 65 (1).
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2
Unraveling the Role of WDR91: Case Report of a Previously Unrecognized Clinical Entity.

von Marinakis NM ; Kampouraki A ; Veltra D ; et al.

Clinical genetics [Clin Genet] 2026 Jan; Vol. 109 (1), pp. 176-180. Date of Electronic Publication: 2025 Jun 23.
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3
A Novel SIL1 Variant (p.E342K) Associated with Marinesco-Sjögren Syndrome Impairs Protein Stability and Function.

von Ruggieri AG ; Marinakis NM ; Amodei L ; et al.

International journal of molecular sciences [Int J Mol Sci] 2025 Nov 22; Vol. 26 (23). Date of Electronic Publication: 2025 Nov 22.
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4
Insights into the heterogeneity of oculopharyngeal muscular dystrophy.

von Kekou K ; Papadopoulos C ; Svingou M ; et al.

Neurogenetics [Neurogenetics] 2025 Sep 24; Vol. 26 (1), pp. 68. Date of Electronic Publication: 2025 Sep 24.
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5
Clinical and Structural Characterization of a Novel TGFBI Mutation Linked to a Lattice Corneal Dystrophy Variant in a Greek Family.

von Zacharogianni M ; Papandreou NC ; Marinakis NM ; et al.

American journal of ophthalmology [Am J Ophthalmol] 2025 Jun; Vol. 274, pp. 112-121. Date of Electronic Publication: 2025 Mar 04.
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6
Motor phenotyping in a Greek cohort of patients with neonatal and infantile onset developmental and epileptic encephalopathy.

von Kollia E ; Kokkinou E ; Outsika C ; et al.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2025 Mar; Vol. 55, pp. 1-8. Date of Electronic Publication: 2025 Mar 03.
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7
Estimating at-risk couple rates across 1000 exome sequencing data cohort for 176 genes and its importance relevance for health policies.

von Marinakis NM ; Tilemis FN ; Veltra D ; et al.

European journal of human genetics : EJHG [Eur J Hum Genet] 2025 Jan; Vol. 33 (1), pp. 65-71. Date of Electronic Publication: 2024 Nov 02.
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8
Nablus mask-like facial syndrome: Report of an atypical case with 8q21.3-q22.1 deletion.

von Mitrakos A ; Kekou K ; Tilemis FN ; et al.

American journal of medical genetics. Part A [Am J Med Genet A] 2024 Dec; Vol. 194 (12), pp. e63826. Date of Electronic Publication: 2024 Jul 22.
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9
Alport Syndrome: Clinical Utility of Early Genetic Diagnosis in Children.

von Christodoulaki V ; Kosma K ; Marinakis NM ; et al.

Genes [Genes (Basel)] 2024 Aug 02; Vol. 15 (8). Date of Electronic Publication: 2024 Aug 02.
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10
Hepatomegaly and fatty liver disease secondary to central hypothyroidism in combination with macrosomia as initial presentation of IGSF1 deficiency syndrome.

von Nikolaou M ; Vasilakis IA ; Marinakis NM ; et al.

Hormones (Athens, Greece) [Hormones (Athens)] 2023 Sep; Vol. 22 (3), pp. 515-520. Date of Electronic Publication: 2023 Jul 26.
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11
Germline CNV Detection through Whole-Exome Sequencing (WES) Data Analysis Enhances Resolution of Rare Genetic Diseases.

von Tilemis FN ; Marinakis NM ; Veltra D ; et al.

Genes [Genes (Basel)] 2023 Jul 21; Vol. 14 (7). Date of Electronic Publication: 2023 Jul 21.
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12
Retrospective analysis of persistent HyperCKemia with or without muscle weakness in a case series from Greece highlights vast DMD variant heterogeneity.

von Kekou K ; Svingou M ; Vogiatzakis N ; et al.

Expert review of molecular diagnostics [Expert Rev Mol Diagn] 2023 Jul-Dec; Vol. 23 (11), pp. 999-1010. Date of Electronic Publication: 2023 Oct 24.
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13
Identification of a Novel IQCE Large Deletion through Copy Number Variant Analysis from Whole-Exome Sequencing Data of a Patient with Postaxial Polydactyly Type A7.

von Tilemis FN ; Marinakis NM ; Kosma K ; et al.

Molecular syndromology [Mol Syndromol] 2023 Jun; Vol. 14 (3), pp. 225-230. Date of Electronic Publication: 2023 Jan 13.
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14
Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms.

von Veltra D ; Tilemis FN ; Marinakis NM ; et al.

Expert review of molecular diagnostics [Expert Rev Mol Diagn] 2023 Jan; Vol. 23 (1), pp. 85-103. Date of Electronic Publication: 2023 Feb 14.
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15
A novel pathogenic ATP6V1B2 variant: Widening the genotypic spectrum of the epileptic neurodevelopmental phenotype.

von Veltra D ; Kosma K ; Papavasiliou A ; et al.

American journal of medical genetics. Part A [Am J Med Genet A] 2022 Dec; Vol. 188 (12), pp. 3563-3566. Date of Electronic Publication: 2022 Sep 22.
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16
Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders.

von Marinakis NM ; Svingou M ; Veltra D ; et al.

American journal of medical genetics. Part A [Am J Med Genet A] 2021 Aug; Vol. 185 (8), pp. 2561-2571. Date of Electronic Publication: 2021 May 19.
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