L. Fares-Taie

发表

Incomplete penetrance of biallelic ALDH1A3 mutations.

P. Calvas, N. Chassaing, A. Verloes, 2016, European journal of medical genetics.

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.

A. Munnich, J. Clayton-Smith, S. Hanein, 2013, American journal of human genetics.

TMEM126A is a mitochondrial located mRNA (MLR) protein of the mitochondrial inner membrane.

A. Munnich, T. Delaveau, F. Devaux, 2013, Biochimica et biophysica acta.

Implication of non-coding PAX6 mutations in aniridia

P. Calvas, N. Chassaing, H. Dollfus, 2018, Human Genetics.

Abnormal respiratory cilia in non-syndromic Leber congenital amaurosis with CEP290 mutations

S. Hanein, J. Papon, E. Escudier, 2010, Journal of Medical Genetics.

Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy

A. Munnich, S. Hanein, P. Calvas, 2012, Nature Genetics.

TUBB4B variants specifically impact ciliary function, causing a ciliopathic spectrum

K. Heimdal, E. Jabs, H. Omran, 2022, medRxiv.

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies.

B. Lorenz, P. Chinnery, P. Yu-Wai-Man, 2015, American Journal of Human Genetics.

TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy.

A. Munnich, N. Boddaert, S. Hanein, 2009, American journal of human genetics.

First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients

L. Bouneau, P. Calvas, N. Chassaing, 2022, Clinical genetics.

Impaired migration and premature differentiation underlie the neurological phenotype associated with PCDH12 loss of function

L. Fares-Taie, J. Rakotomamonjy, Alicia Guemez-Gamboa, 2023, bioRxiv.

Implication of non-coding PAX6 mutations in aniridia

P. Calvas, N. Chassaing, H. Dollfus, 2018, Human Genetics.

Submicroscopic deletions at 13q32.1 cause congenital microcoria.

Yusuke Nakamura, Toshihiro Tanaka, A. Munnich, 2015, American journal of human genetics.

Expanding the KIF4A ‐associated phenotype

F. Alkuraya, N. Chassaing, W. Dobyns, 2021, American journal of medical genetics. Part A.

Clinical and genetic characteristics of enhanced S‐cone syndrome in a Tunisian cohort: experience of the oculogenetic laboratory LR14SP01

T., C. Kostic, P. Calvas, 2018, Acta Ophthalmologica.

PCDH12 loss results in premature neuronal differentiation and impeded migration in a cortical organoid model.

J. Rozet, L. Fares-Taie, J. Rakotomamonjy, 2023, Cell reports.

GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment

Karolina, Carlo, N. Boddaert, 2023, medRxiv.

Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules

A. Fulton, E. Jabs, H. Omran, 2024, Science.

Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype

A. Munnich, D. Zafeiriou, S. Hanein, 2010, Human mutation.

ITPR1: The missing gene in miosis-ataxia syndrome?

P. Calvas, J. Rozet, J. Plaisancié, 2024, American journal of medical genetics. Part A.

Structural Variant Disrupting the Expression of the Remote FOXC1 Gene in a Patient with Syndromic Complex Microphthalmia

P. Calvas, J. Rozet, J. Plaisancié, 2024, International journal of molecular sciences.