Maud Blanluet

Paris, France

Last Updated: 09/26/2026

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Found 18 publications

Correction: Diagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literature.

Correction: Diagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literature.

Journal: European journal of human genetics : EJHG

Published: July 22, 2024

ARID1B-related disorder in 87 adults: Natural history and self-sustainability.

ARID1B-related disorder in 87 adults: Natural history and self-sustainability.

Journal: Genetics in medicine open

Published: November 30, 2023

Diagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literature.

Diagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literature.

Journal: European journal of human genetics : EJHG

Published: November 13, 2023

MSH3: a confirmed predisposing gene for adenomatous polyposis.

MSH3: a confirmed predisposing gene for adenomatous polyposis.

Journal: Journal of medical genetics

Published: April 25, 2023

Infantile-onset parkinsonism, dyskinesia, and developmental delay: do not forget polyglutamine defects!

Infantile-onset parkinsonism, dyskinesia, and developmental delay: do not forget polyglutamine defects!

Journal: Annals of clinical and translational neurology

Published: April 01, 2023

Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes.

Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes.

Journal: The Lancet. Oncology

Published: July 17, 2022

Clonal hematopoiesis driven by chromosome 1q/MDM4 trisomy defines a canonical route toward leukemia in Fanconi anemia.

Clonal hematopoiesis driven by chromosome 1q/MDM4 trisomy defines a canonical route toward leukemia in Fanconi anemia.

Journal: Cell stem cell

Published: April 22, 2022

Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.

Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.

Journal: American journal of human genetics

Published: June 15, 2021

Robust methylation-based classification of brain tumours using nanopore sequencing.

Robust methylation-based classification of brain tumours using nanopore sequencing.

Journal: Neuropathology and applied neurobiology

Published: June 03, 2021

Recurrent FAN1 p.W707X Pathogenic Variant Originating Before ad 1800 Underlies High Frequency of Karyomegalic Interstitial Nephritis in South Pacific Islands.

Recurrent FAN1 p.W707X Pathogenic Variant Originating Before ad 1800 Underlies High Frequency of Karyomegalic Interstitial Nephritis in South Pacific Islands.

Journal: Kidney international reports

Published: February 17, 2021

Recurrence of an early postzygotic rescue of an inherited unbalanced translocation resulting in mosaic segmental uniparental isodisomy of chromosome 11q in siblings.

Recurrence of an early postzygotic rescue of an inherited unbalanced translocation resulting in mosaic segmental uniparental isodisomy of chromosome 11q in siblings.

Journal: American journal of medical genetics. Part A

Published: December 23, 2020

Clinical and Genetic Features of Patients With Fanconi Anemia in Lebanon and Report on Novel Mutations in the FANCA and FANCG Genes.

Clinical and Genetic Features of Patients With Fanconi Anemia in Lebanon and Report on Novel Mutations in the FANCA and FANCG Genes.

Journal: Journal of pediatric hematology/oncology

Published: April 12, 2020

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Last Updated: 09/26/2026