E. Tavares

发表

Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21).

V. Sheffield, E. Héon, A. Vincent, 2016, Human molecular genetics.

FLVCR1-related disease as a rare cause of retinitis pigmentosa and hereditary sensory autonomic neuropathy.

L. Hazrati, E. Héon, A. Vincent, 2020, European journal of medical genetics.

IFT80 mutations cause a novel complex ciliopathy phenotype with retinal degeneration

E. Héon, J. Maynes, E. Tavares, 2018, Clinical genetics.

Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness.

J. Sahel, E. Héon, I. Audo, 2016, American journal of human genetics.

Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant Exonization

Michael D. Wilson, E. Héon, Alexander Pearson, 2020, Investigative ophthalmology & visual science.

Optic Atrophy and Inner Retinal Thinning in CACNA1F-Related Congenital Stationary Night Blindness

J. R. Buncic, E. Héon, I. Audo, 2021, Genes.

CRB1-related retinopathy overlapping the ocular phenotype of S-adenosylhomocysteine hydrolase deficiency

E. Héon, A. Vincent, N. Roslin, 2020, Ophthalmic genetics.

COG5 variants lead to complex early onset retinal degeneration, upregulation of PERK and DNA damage

S. Tabbarah, E. Héon, R. Mendoza-Londono, 2020, Scientific Reports.

Retrotransposon insertion as a novel mutational event in Bardet‐Biedl syndrome

B. Thiruvahindrapuram, W. Sung, E. Héon, 2018, Molecular genetics & genomic medicine.

Extended Phenotyping and Functional Validation Facilitate Diagnosis of a Complex Patient Harboring Genetic Variants in MCCC1 and GNB5 Causing Overlapping Phenotypes

K. Martemyanov, A. Schulze, A. Vincent, 2021, Genes.

Prevalence of Choroidal Abnormalities and Lisch Nodules in Children Meeting Clinical and Molecular Diagnosis of Neurofibromatosis Type 1

E. Héon, P. Parkin, A. Vincent, 2022, Translational vision science & technology.

Deep intronic variant in MVK as a cause for mevalonic aciduria initially presenting as non‐syndromic retinitis pigmentosa

C. Marshall, Birgit B Ertl-Wagner, E. Mayatepek, 2022, Clinical genetics.

DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration

A. Need, M. Kayikci, D. Smedley, 2020, Genetics in Medicine.

Unique retinal signaling defect in GNB5-related disease

E. Héon, A. Vincent, J. Maynes, 2019, Documenta Ophthalmologica.

Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10

T. Aleman, S. Jacobson, J. Duncan, 2021, Investigative ophthalmology & visual science.

Biallelic Mutations in CRB1 Underlie Autosomal Recessive Familial Foveal Retinoschisis.

A. D. den Hollander, C. Westall, F. Cremers, 2016, Investigative ophthalmology & visual science.

Epigenomic anomalies in induced pluripotent stem cells from Alzheimer’s disease cases

E. Tavares, A. Flamier, Roy Hanna, 2024, bioRxiv.