Florence Le Moal-Dastot

Paris, France

Last Updated: 09/26/2026

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Found 15 publications

D e novo SRRM2 variants in neuroendocrine cell hyperplasia of infancy and persistent tachypnoea of infancy.

D e novo SRRM2 variants in neuroendocrine cell hyperplasia of infancy and persistent tachypnoea of infancy.

Journal: The European respiratory journal

Published: April 11, 2025

Molecular Investigation in Early-Onset Interstitial Lung Disease: Results From 699 Unrelated Patients.

Molecular Investigation in Early-Onset Interstitial Lung Disease: Results From 699 Unrelated Patients.

Journal: Respirology (Carlton, Vic.)

Published: February 05, 2025

Bi-allelic LAMP3 variants in childhood interstitial lung disease: a surfactant-related disease.

Bi-allelic LAMP3 variants in childhood interstitial lung disease: a surfactant-related disease.

Journal: EBioMedicine

Published: November 08, 2024

Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia.

Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia.

Journal: Journal of medical genetics

Published: October 19, 2023

Hypomorphic pathogenic variant in SFTPB leads to adult pulmonary fibrosis.

Hypomorphic pathogenic variant in SFTPB leads to adult pulmonary fibrosis.

Journal: European journal of human genetics : EJHG

Published: December 12, 2022

Mosaic variants in TNFRSF1A: an emerging cause of tumour necrosis factor receptor-associated periodic syndrome.

Mosaic variants in TNFRSF1A: an emerging cause of tumour necrosis factor receptor-associated periodic syndrome.

Journal: Rheumatology (Oxford, England)

Published: January 13, 2022

Functional assessment and phenotypic heterogeneity of SFTPA1 and SFTPA2 mutations in interstitial lung diseases and lung cancer.

Functional assessment and phenotypic heterogeneity of SFTPA1 and SFTPA2 mutations in interstitial lung diseases and lung cancer.

Journal: The European respiratory journal

Published: April 26, 2020

Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility.

Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility.

Journal: American journal of human genetics

Published: March 19, 2016

Mutations in GAS8, a Gene Encoding a Nexin-Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal Disorganization.

Mutations in GAS8, a Gene Encoding a Nexin-Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal Disorganization.

Journal: Human mutation

Published: December 03, 2015

Germline SFTPA1 mutation in familial idiopathic interstitial pneumonia and lung cancer.

Germline SFTPA1 mutation in familial idiopathic interstitial pneumonia and lung cancer.

Journal: Human molecular genetics

Published: November 17, 2015

RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes.

RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes.

Journal: American journal of human genetics

Published: March 09, 2015

Brief Report: Involvement of TNFRSF11A molecular defects in autoinflammatory disorders.

Brief Report: Involvement of TNFRSF11A molecular defects in autoinflammatory disorders.

Journal: Arthritis & rheumatology (Hoboken, N.J.)

Published: August 02, 2013

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Last Updated: 09/26/2026