Tania Attié-Bitach

27PUBLICATIONS
123CO-AUTHORS
Medical molecular engineering of nucleic acids and proteinsEpidemiological modellingMolecular targetsCell and nuclear divisionPyrometallurgy
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Publications (27)

|Jul 23, 2026
Identification of a Novel De Novo HECW2 Gene Pathogenic Variant in a Fetus With Cardiac Abnormalities.

|Jul 01, 2026
De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activity.

|Aug 22, 2025
Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies.

Lucile Boutaud, Chunmei Li, Candice Moncler

|Feb 15, 2025
Complete loss of IFT27 function leads to a phenotypic spectrum of fetal lethal ciliopathy associated with altered ciliogenesis.

David Haïm, Nathalie Roux, Lucile Boutaud

|May 17, 2024
The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients.

Laura M Watts, Marta Bertoli, Tania Attie-Bitach

|Apr 18, 2024
Artificial intelligence-based diagnosis in fetal pathology using external ear shapes.

Quentin Hennocq, Nicolas Garcelon, Thomas Bongibault

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Frequent Collaborators

3 joint publications

Christopher T Gordon

2 joint publications

Suzanne Chartier

2 joint publications

Estelle Colin

2 joint publications

Carine Bonnard