Magali Avila

Dijon, France

Last Updated: 09/26/2026

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Found 8 publications

De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features.

De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features.

Journal: Journal of medical genetics

Published: September 10, 2019

Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3.

Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3.

Journal: Cell stem cell

Published: November 29, 2017

Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia.

Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia.

Journal: Clinical genetics

Published: January 04, 2016

Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management.

Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management.

Journal: Clinical genetics

Published: August 03, 2015

Heterozygous deletion of the LRFN2 gene is associated with working memory deficits.

Heterozygous deletion of the LRFN2 gene is associated with working memory deficits.

Journal: European journal of human genetics : EJHG

Published: May 26, 2015

C5orf42 is the major gene responsible for OFD syndrome type VI.

C5orf42 is the major gene responsible for OFD syndrome type VI.

Journal: Human genetics

Published: July 23, 2013

PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy.

PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy.

Journal: American journal of human genetics

Published: March 25, 2013

Delineation of a new chromosome 20q11.2 duplication syndrome including the ASXL1 gene.

Delineation of a new chromosome 20q11.2 duplication syndrome including the ASXL1 gene.

Journal: American journal of medical genetics. Part A

Published: August 30, 2012

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Last Updated: 09/26/2026