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PIK3C2A-Related Clinical Phenotype and Cellular Charaterization Linked to Functional SHH Primary Cilia Defect.

Karam A, Delvallée C, Gérard B, Javey E, Kessler P, Pelletier V, Lamouche JB, Le May N, Muller J, Dollfus H

Clin Genet. 2025 06 21;:

Clinical and molecular overlap between nucleotide excision repair (NER) disorders and haploinsufficiency syndrome.

Le May N, Courraud J, Boujelbène I, Obringer C, Ogi T, Lehmann AR, Laffargue F, Lehalle D, Mizuno S, Mohammed S, Ormières C, Willems M, Laugel V, Calmels N

Front Neurosci. 2025 03 26;19:1554093

Inherited defects of piRNA biogenesis cause transposon de-repression, impaired spermatogenesis, and human male infertility.

Stallmeyer B, Bühlmann C, Stakaitis R, Dicke AK, Ghieh F, Meier L, Zoch A, MacKenzie MacLeod D, Steingröver J, Okutman Ö, Fietz D, Pilatz A, Riera-Escamilla A, Xavier MJ, Ruckert C, Di Persio S, Neuhaus N, Gurbuz AS, Şalvarci A, Le May N, McEleny K, Friedrich C, van der Heijden G, Wyrwoll MJ, Kliesch S, Veltman JA, Krausz C, Viville S, Conrad DF, O'Carroll D, Tüttelmann F

Nat Commun. 2024 08 9;15(1):6637

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