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Genetics March 2022

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

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Veronika Vaclavik; Leila Tiab; Young Joo Sun; Vinit B. Mahajan; Alexandre Moulin; Nathalie Allaman-Pillet; Francis L. Munier; Daniel F. Schorderet
TAGS: family, retinitis pigmentosa, whole exome sequencing, collagen, immunohistochemistry, proteins
Invest. Ophthalmol. Vis. Sci.. 2022; 63(3):23. https://doi.org/10.1167/iovs.63.3.23

ARVO Annual Meeting Abstract June 2020

Whole exome sequencing identified novel homozygous ALMS1 mutations in a Tunisian family with Alström syndrome

Imen Habibi; Yousra Falfoul; Ahmed Turki; Leila El Matri; Daniel F Schorderet

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):2403.

ARVO Annual Meeting Abstract June 2020

Report of a Tunisian family with phenotypic variability linked to BEST 1 mutation

Leila El Matri; Yousra Falfoul; Habibi Imen; Khaled ElMatri; AHMED chebil; Asma Hassairi; Daniel F Schorderet

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):2425.

ARVO Annual Meeting Abstract July 2019

Novel compound heterozygote mutations in CYP2U1 can cause maculopathy with or without neurological signs of hereditary spastic paraplegia HSP56

Veronika Vaclavik; Emanuelle Ranza; Francis Munier; Franz-Josef Holzer; Michel Guipponi; Stylianos Antonarakis; Daniel F Schorderet

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2930.

ARVO Annual Meeting Abstract July 2019

Report of five families with autosomal recessive Bestrophinopathies (ARB)

Habibi Imen; Yosra Falfoul; Margarita G. Todorova; Stefan Wyrsch; Daniel F Schorderet; Leila El Matri

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):398.

ARVO Annual Meeting Abstract June 2017

Sequence analysis of 108 genes associated with non-syndromic inherited retinal diseases in 3,200 probands using molecular inversion probes

Muhammad Khan; Perez-Carro Raquel; Dror Sharon; Robert K Koenekoop; Carlo Rivolta; Elfride De Baere; Chris F Inglehearn; Susanne Kohl; Christian P Hamel; Tamar Ben-Yosef; Berta De la Cerda; Daniel F Schorderet; Sandro Banfi; Carmen Ayuso; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2758.

ARVO Annual Meeting Abstract June 2017

Mutations in MFSD8 cause early and late onset Autosomal Recessive Macular Dystrophy in Switzerland

Veronika Vaclavik; Daniel F Schorderet; Francis L Munier; Hoai Viet Tran; Margarita Todorova

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2778.

ARVO Annual Meeting Abstract June 2017

Novel RPGRIP1 mutation in Leber congenital amaurosis patients

Imen Habibi; Yousra Falfoul; Ahmed Chebil; Leila El Matri; Daniel F Schorderet

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3239.

ARVO Annual Meeting Abstract June 2017

Mutations in spliceosome-associated protein homolog CWC27 lead to a spectrum of syndromic and nonsydromic retinal degeneration disease

Rui Chen; mingchu xu; Yajing Xie; Hana Abouzeid; Christopher Gordon; Alessia Fiorentino; Zixi Sun; Anna Lehman; Carmen Ayuso; Alison J Hardcastle; Ruifang Sui; Rando Allikmets; Daniel F Schorderet

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3818.

ARVO Annual Meeting Abstract June 2017

Consanguineous Tunisian Family With Enhanced-S-cone Syndrome

youssr louati; Veronika Vaclavik; Daniel F Schorderet; Imen Habibi

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):4685.

ARVO Annual Meeting Abstract June 2017

Para-arterial preservation of the inner retinal layer in Leber congenital amaurosis: an early and transient sign of retinal degeneration

Ariane de Lassus; Bart Peter Leroy; Veronika Vaclavik; Daniel F Schorderet; Francis L Munier; Hoai Viet Tran

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2762.

ARVO Annual Meeting Abstract June 2015

Mutation in EYS gene causes variable expressivity, ranging from Leber Congenital Amaurosis to adult onset Retinitis Pimentosa. Autofluorescence Study.

Veronika Vaclavik; Francis L Munier; Daniel F Schorderet; Hoai Viet Tran

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):2894.

Genetics February 2015

Abrogation of HMX1 Function Causes Rare Oculoauricular Syndrome Associated With Congenital Cataract, Anterior Segment Dysgenesis, and Retinal Dystrophy

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Rachel L. Gillespie; Jill Urquhart; Simon C. Lovell; Susmito Biswas; Neil R. A. Parry; Daniel F. Schorderet; I. Chris Lloyd; Jill Clayton-Smith; Graeme C. Black
TAGS: congenital abnormality, congenital cataract, mutation, proteins, retinal dystrophies, syndrome, phenotype
Invest. Ophthalmol. Vis. Sci.. 2015; 56(2):883-891. https://doi.org/10.1167/iovs.14-15861

ARVO Annual Meeting Abstract April 2014

Autosomal recessive besotropinopathy : A novel mutation in BEST1 gene in a consanguinous family. Genotype/Phenotype correlation and follow up of 3 years

Veronika Vaclavik; Francis L Munier; Viet Hoai Tran; Daniel F Schorderet

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):3257.

ARVO Annual Meeting Abstract April 2014

Novel ADAM9 mutation in a consanguineous Egyptian family with severe Cone-Rod Dystrophy

Cecilia Jakobsson; Wael El-Haig; Hana Abouzeid; Daniel F Schorderet

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):3277.

ARVO Annual Meeting Abstract April 2014

Genetics of Retinitis Pigmentosa and Other Hereditary Retinal Disorders in Western Switzerland

Viet Hoai Tran; Veronika Vaclavik; Susan Houghton; Leila Tiab; Daniel F Schorderet; Francis L Munier

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):4514.

Retina July 2012

Double Concentric Autofluorescence Ring in NR2E3 -p.G56R-Linked Autosomal Dominant Retinitis Pigmentosa

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Pascal Escher; Hoai V. Tran; Veronika Vaclavik; Francois X. Borruat; Daniel F. Schorderet; Francis L. Munier
TAGS: autofluorescence, family, retinitis pigmentosa, eye, pigment
Invest. Ophthalmol. Vis. Sci.. 2012; 53(8):4754-4764. https://doi.org/10.1167/iovs.11-8693

ARVO Annual Meeting Abstract March 2012

Phenotype/genotype Correlation Associated With A Novel Nonsense Glu20stop Mutation In The Rp2 Gene In A Three-generation Family With X-linked Retinitis Pigmentosa

Veronika Vaclavik; Francis L. Munier; Viet H. Tran; Daniel F. Schorderet

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):4547.

ARVO Annual Meeting Abstract March 2012

Para-arterial Sparing Phenotype In Leber Congenital Amaurosis Associated With Homozygous p.R108X SPATA-7 Mutation

Anne KUONEN; Hoai V. TRAN; Veronika VACLAVIK; Daniel F. SCHORDERET; Francis L. MUNIER

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):4590.

ARVO Annual Meeting Abstract March 2012

FYCO1 Mutation Hotspot in Congenital Cataract

Hana Abouzeid; Gihan Helmy; Mohamed El Sada; Mai Sherif; Mariam H. Yacoub; Gaelle Boisset; Tatiana Favez; Daniel F. Schorderet

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):1723.

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

Whole exome sequencing identified novel homozygous ALMS1 mutations in a Tunisian family with Alström syndrome

Report of a Tunisian family with phenotypic variability linked to BEST 1 mutation

Novel compound heterozygote mutations in CYP2U1 can cause maculopathy with or without neurological signs of hereditary spastic paraplegia HSP56

Report of five families with autosomal recessive Bestrophinopathies (ARB)

Sequence analysis of 108 genes associated with non-syndromic inherited retinal diseases in 3,200 probands using molecular inversion probes

Mutations in MFSD8 cause early and late onset Autosomal Recessive Macular Dystrophy in Switzerland

Novel RPGRIP1 mutation in Leber congenital amaurosis patients

Mutations in spliceosome-associated protein homolog CWC27 lead to a spectrum of syndromic and nonsydromic retinal degeneration disease

Consanguineous Tunisian Family With Enhanced-S-cone Syndrome

Para-arterial preservation of the inner retinal layer in Leber congenital amaurosis: an early and transient sign of retinal degeneration

Mutation in EYS gene causes variable expressivity, ranging from Leber Congenital Amaurosis to adult onset Retinitis Pimentosa. Autofluorescence Study.

Abrogation of HMX1 Function Causes Rare Oculoauricular Syndrome Associated With Congenital Cataract, Anterior Segment Dysgenesis, and Retinal Dystrophy

Autosomal recessive besotropinopathy : A novel mutation in BEST1 gene in a consanguinous family. Genotype/Phenotype correlation and follow up of 3 years

Novel ADAM9 mutation in a consanguineous Egyptian family with severe Cone-Rod Dystrophy

Genetics of Retinitis Pigmentosa and Other Hereditary Retinal Disorders in Western Switzerland

Double Concentric Autofluorescence Ring in NR2E3 -p.G56R-Linked Autosomal Dominant Retinitis Pigmentosa

Phenotype/genotype Correlation Associated With A Novel Nonsense Glu20stop Mutation In The Rp2 Gene In A Three-generation Family With X-linked Retinitis Pigmentosa

Para-arterial Sparing Phenotype In Leber Congenital Amaurosis Associated With Homozygous p.R108X SPATA-7 Mutation

FYCO1 Mutation Hotspot in Congenital Cataract

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