L. Tiab

发表

Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene

Ahmed Rebai, D. Schorderet, S. Abdelhak, 2011, Journal of Human Genetics.

Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family

P. Gouras, N. Mermod, R. Allikmets, 2009, Human mutation.

Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients

D. Schorderet, F. Munier, L. Tiab, 2004, Ophthalmic genetics.

IROme, a new high-throughput molecular tool for the diagnosis of inherited retinal dystrophies-a price comparison with Sanger sequencing.

D. Schorderet, T. Favez, L. Tiab, 2014, Advances in experimental medicine and biology.

Franceschetti hereditary recurrent corneal erosion.

D. Schorderet, U. Pleyer, F. Munier, 2012, American journal of ophthalmology.

Mutations in PIP5K3 are associated with François-Neetens mouchetée fleck corneal dystrophy.

D. Schorderet, X. Jiao, J. Hejtmancik, 2005, American journal of human genetics.

Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndrome.

D. Schorderet, F. Munier, L. Tiab, 2008, American journal of human genetics.

IROme, a New High-Throughput Molecular Tool for the Diagnosis of Inherited Retinal Dystrophies

D. Schorderet, T. Favez, L. Tiab, 2012, BioMed research international.

Variable phenotypic expressivity in a Swiss family with autosomal dominant retinitis pigmentosa due to a T494M mutation in the PRPF3 gene

D. Schorderet, F. Munier, V. Vaclavik, 2010, Molecular vision.

A novel dominant mutation of the Nav1.4 α-subunit domain I leading to sodium channel myotonia

J. Burgunder, D. Schorderet, L. Tiab, 2008, Neurology.

A novel homozygous R764H mutation in crumbs homolog 1 causes autosomal recessive retinitis pigmentosa

D. Schorderet, F. Munier, L. Largueche, 2013, Molecular vision.

Novel mutations in FRMD7 in X‐linked congenital nystagmus

B. Lorenz, D. Schorderet, E. Traboulsi, 2007, Human mutation.

The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy.

D. Hunt, G. Holder, E. White, 2010, Investigative ophthalmology & visual science.

Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family

P. Gouras, N. Mermod, R. Allikmets, 2009, Human mutation.

New COL6A6 Variant Causes Autosomal Dominant Retinitis Pigmentosa in a Four-Generation Family

V. Mahajan, D. Schorderet, F. Munier, 2022, Investigative ophthalmology & visual science.

The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy.

D. Hunt, G. Holder, E. White, 2010, Investigative ophthalmology & visual science.

A novel dominant mutation of the Nav1.4 α-subunit domain I leading to sodium channel myotonia

J. Burgunder, D. Schorderet, L. Tiab, 2008, Neurology.