X. Zanlonghi

X. Zanlonghi, M. Ryckewaert, G. Constantinides, 1992, Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde.

The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences

A. Fulton, N. Schalij-Delfos, O. Birk, 2022, Investigative ophthalmology & visual science.

Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness.

Olivier Poch, Sabine Defoort-Dhellemmes, Xavier Zanlonghi, 2012, American journal of human genetics.

MERTK mutation update in inherited retinal diseases

J. Sahel, S. Mohand-Said, I. Audo, 2018, Human mutation.

Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy

H. Wilhelm, D. Goudenège, Majida Charif, 2019, The Journal of clinical investigation.

OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database

Dan Milea, Johan T den Dunnen, Xavier Zanlonghi, 2019, Orphanet journal of rare diseases.

Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations

D. Milea, D. Bonneau, P. Amati‐Bonneau, 2009, Human mutation.

DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients.

J. Shendure, D. Nickerson, Martin Kircher, 2018, JIMD reports.

Resolving the dark matter of ABCA4 for 1,054 Stargardt disease probands through integrated genomics and transcriptomics

A. Hoischen, C. Klaver, D. Sharon, 2019, bioRxiv.

G. Labesse, M. Picot, D. Hamroun, 2021, International journal of molecular sciences.

Mutations in IMPG1 cause vitelliform macular dystrophies.

Xavier Zanlonghi, Joe G Hollyfield, Gilles Labesse, 2013, American journal of human genetics.

Retinitis Punctata Albescens and RLBP1-Allied Phenotypes

G. Labesse, M. Picot, D. Hamroun, 2021, Ophthalmology science.

Early-onset foveal involvement in retinitis punctata albescens with mutations in RLBP1.

Xavier Zanlonghi, Jérôme Bourien, Isabelle Meunier, 2013, JAMA ophthalmology.

Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus

J. Andrieux, S. Odent, X. Zanlonghi, 2011, European Journal of Human Genetics.

Novel KCNV2 mutations in cone dystrophy with supernormal rod electroretinogram.

C. Hamel, X. Zanlonghi, A. Sénéćhal, 2007, American journal of ophthalmology.

Genetic analysis of new French X-linked juvenile retinoschisis kindreds using microsatellite markers closely linked to the RS locus: further narrowing of the RS candidate region

A. Hanauer, F. Peugnet, X. Zanlonghi, 1995, Human Genetics.

The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A

B. Gilbert-Dussardier, Julie Bianchi, M. Claustres, 2021, International journal of molecular sciences.

A novel duplication of PRMD13 causes North Carolina macular dystrophy: overexpression of PRDM13 orthologue in drosophila eye reproduces the human phenotype

J. Sahel, A. Boland, J. Deleuze, 2017, Human molecular genetics.

[Efficiency of surgical treatment for chronic macular edema due to branch retinal vein occlusion].

F Becquet, X. Zanlonghi, D. Ducournau, 2003, Journal francais d'ophtalmologie.

Comparison of Prednisolone and Topical Indomethacin in Post-Operative Inflammation

C. Allaire, X. Zanlonghi, C. Trinquand, 1993 .

Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent?

A. Munnich, S. Hanein, P. Nitschké, 2011, European Journal of Human Genetics.

Dominant ACO2 mutations are a frequent cause of isolated optic atrophy

M. Carbonelli, P. Gohier, P. Yu-Wai-Man, 2021, Brain communications.

LIGHTSITE II Randomized Multicenter Trial: Evaluation of Multiwavelength Photobiomodulation in Non-exudative Age-Related Macular Degeneration

K. Lorenz, M. Parodi, X. Zanlonghi, 2023, Ophthalmology and Therapy.

Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic RPGRIP1 Pathologic Variant in the French Leber Congenital Amaurosis Cohort

S. Hanein, X. Zanlonghi, I. Meunier, 2021, Genes.

Cyclosporine A does not prevent second-eye involvement in Leber’s hereditary optic neuropathy

C. Tilikete, C. Orssaud, D. Milea, 2018, Orphanet Journal of Rare Diseases.

Evaluation of Macular Pigment Optical Density With a Color Perimetry Technique. Normal Values and Influence of Diet

M. Crochet, X. Zanlonghi, J. Charlier, 2009 .

[Up-dated ophthalmological screening and follow-up management for long-term antimalarial treatment].

J. Leid, J. Le Gargasson, I. Ingster-moati, 2004, Journal Francais d'Ophtalmologie.

Clinical Characteristics and Risk Factors of Extensive Macular Atrophy with Pseudodrusen: The EMAP Case-Control National Clinical Trial.

J. Sahel, P. Gastaud, C. Creuzot-Garcher, 2016, Ophthalmology.

Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients.

J. Sahel, S. Bhattacharya, V. Moskova-Doumanova, 2010, Investigative ophthalmology & visual science.

Mutational Spectrum, Ocular and Olfactory Phenotypes of CNGB1-Related RP-Olfactory Dysfunction Syndrome in a Multiethnic Cohort

Ana Luísa Carvalho, C. Blanchet, X. Zanlonghi, 2023, Genes.

Dominant mutations in MIEF1 affect mitochondrial dynamics and cause a singular late onset optic neuropathy

D. Krainc, D. Bonneau, P. Amati‐Bonneau, 2021, Molecular neurodegeneration.

Dietary, environmental, and genetic risk factors of Extensive Macular Atrophy with Pseudodrusen, a severe bilateral macular atrophy of middle-aged patients

J. Sahel, P. Gastaud, C. Creuzot-Garcher, 2018, Scientific Reports.

Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy

J. Sahel, H. Dollfus, I. Audo, 2021, International journal of molecular sciences.

[Radial optic neurotomy for severe central retinal vein occlusion: preliminary results].

X. Zanlonghi, D. Ducournau, J. Le Rouic, 2003, Journal francais d'ophtalmologie.

New electroretinography technique for macular function evaluation using focal stimulation and fixation monitoring

X. Zanlonghi, J. Charlier, 1992, Annual International Conference of the IEEE Engineering in Medicine and Biology Society.

Spinocerebellar Ataxia 7

G. Stevanin, X. Zanlonghi, B. Puech, 2014 .

Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics

A. Hoischen, C. Klaver, D. Sharon, 2020, Genetics in Medicine.

Characterization of visual scanning while driving for the identification of drivers’ profiles

X. Zanlonghi, I. Milleville-Pennel, A. Barrucand, 2021, Transportation Research Part F: Traffic Psychology and Behaviour.