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MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.

• Authors : Karayol, Remzi; Borroto, Maria; Haghshenas, Sadegheh

Subjects: MSL2; autism; connective tissue

• Source: American Journal of Human Genetics. 111(7)

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Intermittent PI3Kδ inhibition sustains anti-tumour immunity and curbs irAEs.

• Authors : Eschweiler, Simon; Ramírez-Suástegui, Ciro; Li, Yingcong

Subjects: Adenosine; Animals; Antineoplastic Agents

• Source: Nature. 605(7911)

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Apolipoprotein E-ε2 and Resistance to Atherosclerosis in Midlife-The PESA Observational Study.

• Authors : Toribio-Fernández, Raquel; Tristão-Pereira, Catarina; Carlos Silla-Castro, Juan

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PRPH2 -Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort.

• Authors : Fernández-Caballero, Lidia^1,2 (AUTHOR) ; Martín-Merida, Inmaculada^1,2 (AUTHOR) ; Blanco-Kelly, Fiona^1,2 (AUTHOR)

Subjects: *RETINAL degeneration; *RETINITIS pigmentosa; *PHENOTYPIC plasticity

• Source: International Journal of Molecular Sciences. Mar2024, Vol. 25 Issue 5, p2913. 18p.

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Correction: Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia.

• Authors : Kesim, Yesim; Ceroni, Fabiola; Damián, Alejandra

Subjects: 610 Medicine & health

• Source: Kesim, Yesim; Ceroni, Fabiola; Damián, Alejandra; Blanco-Kelly, Fiona; Ayuso, Carmen; Williamson, Kathy; Paquis-Flucklinger, Véronique;

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International interlaboratory compilation of trace element concentrations in the CUP-2 uranium ore concentrate standard.

• Authors : Denton, Joanna S.¹ (AUTHOR) ; Bostick, Debra A.² (AUTHOR); Boulyga, Sergei F.³ (AUTHOR)

Subjects: *URANIUM ores; *REFERENCE sources; *FORENSIC sciences

• Source: Journal of Radioanalytical & Nuclear Chemistry. Jul2023, Vol. 332 Issue 7, p2817-2832. 16p. 6 Charts, 2 Graphs.

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A second update on mapping the human genetic architecture of COVID-19

• Authors : Kanai, Masahiro; Andrews, Shea J.; Cordioli, Mattia

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Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: Addition of 67 new patients

• Authors : Martínez Cayuelas, Elena; Blanco Kelly, Fiona; López Grondona, Fermina

Subjects: Medicina clínica; Biología molecular

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Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome

• Authors : Perea Romero, Irene; Solarat, Carlos; Blanco-Kelly, Fiona ...

Subjects: Bardet-Biedl syndrome; oligogenic; Medicina

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Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia

• Authors : Kesim, Yesim; Ceroni, Fabiola; Damián, Alejandra

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