Alexis T. Bertrand
Paris, France
Last Updated: 09/26/2026
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Found 14 publications
Functional impact of the eIF6 N106S mutation on ribosome biogenesis in wild type and Shwachman-Diamond syndrome cells.
Journal: Molecular medicine (Cambridge, Mass.)
Published: December 22, 2025
RPS19 and RPL5 haploinsufficient models reveal divergent ribosomal subunit controls of fetal hematopoiesis.
Journal: Nature communications
Published: September 11, 2025
Ribosomal RNA processing impairments in a B cell immunodeficient patient with WDR75 variants.
Journal: Journal of human immunity
Published: April 08, 2025
Shwachman-Diamond syndrome due to biallelic EFL1 variants with complex and fatal clinical course in early infancy.
Journal: British journal of haematology
Published: June 25, 2024
A future of AI-driven personalized care for people with multiple sclerosis.
Journal: Frontiers in immunology
Published: June 10, 2024
Characterization of novel mutations in the TEL-patch domain of the telomeric factor TPP1 associated with telomere biology disorders.
Journal: Human molecular genetics
Published: July 11, 2023
Publisher Correction: Somatic genetic rescue of a germline ribosome assembly defect.
Journal: Nature communications
Published: June 22, 2022
Ultrasound appearance of the duodenal papilla in clinically healthy cats.
Journal: Journal of feline medicine and surgery
Published: March 07, 2022
Somatic genetic rescue of a germline ribosome assembly defect.
Journal: Nature communications
Published: October 20, 2020
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Journal: Journal of the American Veterinary Medical Association
Published: February 20, 2019
Unusual association of a unique CAG interruption in 5' of DM1 CTG repeats with intergenerational contractions and low somatic mosaicism.
Journal: Human mutation
Published: December 19, 2017
Last Updated: 09/26/2026