List of works by Samuel G. Jacobson

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies ⬇️

scientific article

A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa

scientific article

A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews

scientific article

A novel RDS/peripherin gene mutation associated with diverse macular phenotypes

scientific article published in June 2004

A novel locus (RP24) for X-linked retinitis pigmentosa maps to Xq26-27.

scientific article

AAV-mediated gene therapy in the guanylate cyclase (RetGC1/RetGC2) double knockout mouse model of Leber congenital amaurosis.

scientific article published on February 2013

ABCA4 disease progression and a proposed strategy for gene therapy

scientific article published on 12 December 2008

ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies.

scientific article published on 20 February 2008

ABCA4-associated retinal degenerations spare structure and function of the human parapapillary retina

scientific article

Abnormal thickening as well as thinning of the photoreceptor layer in intermediate age-related macular degeneration

scientific article published on 5 March 2013

Age-related macular degeneration: a high-resolution genome scan for susceptibility loci in a population enriched for late-stage disease

scientific article

An alternative phototransduction model for human rod and cone ERG a-waves: normal parameters and variation with age.

scientific article published in August 1996

Augmented rod bipolar cell function in partial receptor loss: an ERG study in P23H rhodopsin transgenic and aging normal rats

scientific article

Autofluorescence imaging with near-infrared excitation:normalization by reflectance to reduce signal from choroidal fluorophores.

scientific article published on May 2015

Automated Light- and Dark- Adapted Perimetry for Evaluating Retinitis Pigmentosa

scientific article published on 01 December 1986

Automated Light- and Dark-Adapted Perimetry for Evaluating Retinitis Pigmentosa: Filling a Need to Accommodate Multicenter Clinical Trials

scientific article published on June 2016

Autosomal Dominant Retinitis Pigmentosa Caused by the Threonine-17-Methionine Rhodopsin Mutation: Retinal Histopathology and Immunocytochemistry

scientific article published on 01 April 1994

Autosomal Dominant Retinitis Pigmentosa Due to Class B Rhodopsin Mutations: An Objective Outcome for Future Treatment Trials

scientific article published on 27 October 2019

Autosomal recessive retinitis pigmentosa caused by mutations in the MAK gene

scientific article published on 28 December 2011

BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition

scientific article published on 22 March 2011

Behavioural studies of spatial vision in cats reared with convergent squint: is amblyopia due to arrest of development?

scientific article published in January 1979

Binocular visual form deprivation in human infants

scientific article published on 01 May 1983

Blinded by the light

scientific article published on 01 October 2002

Blue cone monochromacy: visual function and efficacy outcome measures for clinical trials

scientific article

CDHR1 mutations in retinal dystrophies

scientific article published on August 2017

CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy.

scientific article

CNGA3 mutations in hereditary cone photoreceptor disorders

scientific article

Canine and human visual cortex intact and responsive despite early retinal blindness from RPE65 mutation

scientific article

Canine retina has a primate fovea-like bouquet of cone photoreceptors which is affected by inherited macular degenerations

scientific article

Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis

scientific article

Characterisation of a C1qtnf5 Ser163Arg knock-in mouse model of late-onset retinal macular degeneration

scientific article

Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosis

scientific article published in March 2003

Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis

scientific article

Complexity of the Class B Phenotype in Autosomal Dominant Retinitis Pigmentosa Due to Rhodopsin Mutations.

scientific article published on September 2016

Concentric retinitis pigmentosa: clinicopathologic correlations

scientific article published in October 2001

Cone deactivation kinetics and GRK1/GRK7 expression in enhanced S cone syndrome caused by mutations in NR2E3.

scientific article published in March 2003

Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy

scientific article

Cone-Rod Dystrophy

scientific article published on 01 May 1989

Cone-mediated retinal function in cats during development

article

Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination

scientific article (publication date: May 2003)

DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome

scientific article published on 25 August 2016

Dark- and light-adapted visual evoked cortical potentials in retinitis pigmentosa

scientific article published in August 1985

De novo mutation in the RP1 gene (Arg677ter) associated with retinitis pigmentosa

scientific article

De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis

scientific article

Defining Outcomes for Clinical Trials of Leber Congenital Amaurosis Caused by GUCY2D Mutations

scientific article published on 14 February 2017

Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations

scientific article published on 30 December 2008

Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants

scientific article published on 3 October 2012

Developing an Outcome Measure With High Luminance for Optogenetics Treatment of Severe Retinal Degenerations and for Gene Therapy of Cone Diseases

scientific article published on June 2016

Disease boundaries in the retina of patients with Usher syndrome caused by MYO7A gene mutations

scientific article

Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype

scientific article

Dissecting the pathogenic mechanisms of mutations in the pore region of the human cone photoreceptor cyclic nucleotide-gated channel

scientific article

Dominant late-onset retinal degeneration with regional variation of sub-retinal pigment epithelium deposits, retinal function, and photoreceptor degeneration

article

Drusen and photoreceptor abnormalities in African-Americans with intermediate non-neovascular age-related macular degeneration

scientific article published on 9 June 2014

EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression

scientific article published on 12 July 2017

Early age-related maculopathy and self-reported visual difficulty in daily life

scientific article published in July 2002

Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect

scientific article published on 17 December 2018

Enhanced S cone syndrome: evidence for an abnormally large number of S cones

scientific article published in May 1995

Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1)

scientific article

Evaluation of eyes with stage-5 retinopathy of prematurity

scientific article published on 01 January 1989

Evidence for retinal remodelling in retinitis pigmentosa caused by PDE6B mutation

scientific article published on May 2007

Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa

scientific article

Expanded clinical spectrum of enhanced S-cone syndrome

scientific article published on October 2013

Full-field stimulus testing (FST) to quantify visual perception in severely blind candidates for treatment trials

scientific article published on 6 July 2007

Functional Rescue of Retinal Degeneration-Associated Mutant RPE65 Proteins.

scientific article published on January 2016

Gene augmentation for X-linked retinitis pigmentosa caused by mutations in RPGR

scientific article

Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years

scientific article

Gene therapy for rare diseases: summary of a National Institutes of Health workshop, September 13, 2012

scientific article (publication date: April 2013)

Gene therapy for retinitis pigmentosa caused by MFRP mutations: human phenotype and preliminary proof of concept

scientific article published on 26 January 2012

Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa

scientific article published on 23 January 2012

Gene therapy restores vision in a canine model of childhood blindness

scientific article published in May 2001

Genetic heterogeneity in autosomal dominant retinitis pigmentosa with low-frequency damped electroretinographic wavelets

scientific article published on 15 August 2008

Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I.

scientific article

Genetically engineered large animal model for studying cone photoreceptor survival and degeneration in retinitis pigmentosa

scientific article published in October 1997

Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene Therapy.

scientific article

Harmonin in the murine retina and the retinal phenotypes of Ush1c-mutant mice and human USH1C.

scientific article

Human CRB1-associated retinal degeneration: comparison with the rd8 Crb1-mutant mouse model

scientific article

Human RPE65 gene therapy for Leber congenital amaurosis: persistence of early visual improvements and safety at 1 year

scientific article

Human cone photoreceptor dependence on RPE65 isomerase

scientific article

Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy

scientific article

Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics

scholarly article

Human retinal disease from AIPL1 gene mutations: foveal cone loss with minimal macular photoreceptors and rod function remaining

scientific article published on 5 January 2011

Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement

scientific article published on 22 January 2013

Human rod monochromacy: linkage analysis and mapping of a cone photoreceptor expressed candidate gene on chromosome 2q11

scientific article

IQCB1 mutations in patients with leber congenital amaurosis.

scientific article

Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome

scientific article

Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.

scientific article published in June 2001

Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success

scientific article

Improvement and decline in vision with gene therapy in childhood blindness.

scientific article

Improvement in vision: a new goal for treatment of hereditary retinal degenerations

scientific article published on May 2015

In utero gene therapy rescues vision in a murine model of congenital blindness

scientific article published in February 2004

In vivo dynamics of retinal injury and repair in the rhodopsin mutant dog model of human retinitis pigmentosa

scientific article

In vivo function of the orphan nuclear receptor NR2E3 in establishing photoreceptor identity during mammalian retinal development

scientific article

In vivo micropathology of Best macular dystrophy with optical coherence tomography.

scientific article

Inner and outer retinal changes in retinal degenerations associated with ABCA4 mutations

scientific article published on 20 March 2014

Inner retinal abnormalities in X-linked retinitis pigmentosa with RPGR mutations

scientific article

Intervisit variability of visual parameters in Leber congenital amaurosis caused by RPE65 mutations

scientific article published on 15 February 2013

In Vitro Modeling Using Ciliopathy-Patient-Derived Cells Reveals Distinct Cilia Dysfunctions Caused by CEP290 Mutations.

scientific article published on July 2017

Late-onset retinal degeneration caused by C1QTNF5 mutation: sub-retinal pigment epithelium deposits and visual consequences

scientific article published on October 2014

Leber Congenital Amaurosis: Genotypes and Retinal Structure Phenotypes

scientific article published on 01 January 2016

Leber congenital amaurosis caused by an RPGRIP1 mutation shows treatment potential

scientific article published on 16 February 2007

Lifespan and mitochondrial control of neurodegeneration

scientific article

Long-term protection of retinal structure but not function using RAAV.CNTF in animal models of retinitis pigmentosa

scientific article published in November 2001

Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice

scientific article published on 30 April 2009

Macular function in macular degenerations: repeatability of microperimetry as a potential outcome measure for ABCA4-associated retinopathy trials

scientific article

Macular pigment and lutein supplementation in ABCA4-associated retinal degenerations

scientific article published on March 2007

Macular pigment and lutein supplementation in choroideremia

scientific article

Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa

scientific article

Molecular Heterogeneity Within the Clinical Diagnosis of Pericentral Retinal Degeneration.

scientific article

Molecular anthropology meets genetic medicine to treat blindness in the North African Jewish population: human gene therapy initiated in Israel.

scientific article

Monocular visual form deprivation in human infants

scientific article published in May 1983

Mpdz null allele in an avian model of retinal degeneration and mutations in human leber congenital amaurosis and retinitis pigmentosa

scientific article published on 27 September 2011

Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing

scientific article

Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II.

scientific article published on 30 October 2009

Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration

scientific article

Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.

scientific article

Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: a reappraisal of the human disease sequence

scientific article published on 6 January 2004

Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness

scientific article

Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease

scientific article

Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa

scientific article

Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia

scientific article

Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration

scientific article published in December 1997

Nasal field loss in cats reared with convergent squint: behavioural studies

scientific article published on 01 September 1977

Natural history of cone disease in the murine model of Leber congenital amaurosis due to CEP290 mutation: determining the timing and expectation of therapy

scientific article

Naturally occurring rhodopsin mutation in the dog causes retinal dysfunction and degeneration mimicking human dominant retinitis pigmentosa

scientific article

Night vision restored in days after decades of congenital blindness

scientific article published in 2022

Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease.

scientific article published on 04 August 2013

Normal central retinal function and structure preserved in retinitis pigmentosa.

scientific article published on 24 September 2009

Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration

scientific article

Null mutation in the rhodopsin kinase gene slows recovery kinetics of rod and cone phototransduction in man

scientific article published on January 1998

Optic nerve fibre lesions in adult cats: pattern of recovery of spatial vision.

scientific article published in August 1979

Optical Coherence Tomography (OCT) Abnormalities in rhodopsin Mutant Transgenic Swine with Retinal Degeneration

article

Optimization of Retinal Gene Therapy for X-Linked Retinitis Pigmentosa Due to RPGR Mutations

scientific article published on 26 May 2017

Outcome Measures for Clinical Trials of Leber Congenital Amaurosis Caused by the Intronic Mutation in the CEP290 Gene.

scientific article published in May 2017

Outcome measure for the treatment of cone photoreceptor diseases: orientation to a scene with cone-only contrast

scientific article published on 8 August 2015

Outcome measures and their application in clinical trials for retinal degenerative diseases: outline, review, and perspective.

scientific article

Outer Retinal Changes Including the Ellipsoid Zone Band in Usher Syndrome 1B due to MYO7A Mutations.

scientific article published on July 2016

Overlap of abnormal photoreceptor development and progressive degeneration in Leber congenital amaurosis caused by NPHP5 mutation.

scientific article published on 9 August 2016

Pathological changes in the optic chiasm of the cat following local injection of diphtheria toxin

scientific article published in July 1977

Pattern of Retinal Dysfunction in Acute Zonal Occult Outer Retinopathy

article

Patterns of Individual Variation in Visual Pathway Structure and Function in the Sighted and Blind

scientific article

Photoreceptor layer topography in children with leber congenital amaurosis caused by RPE65 mutations

scientific article published on 6 June 2008

Photoreceptor rosettes with blue cone opsin immunoreactivity in retinitis pigmentosa

scientific article published in December 1990

Pitfalls in homozygosity mapping.

scientific article

Postretinal Structure and Function in Severe Congenital Photoreceptor Blindness Caused by Mutations in the GUCY2D Gene.

scientific article published on February 2017

Predicting Progression of ABCA4-Associated Retinal Degenerations Based on Longitudinal Measurements of the Leading Disease Front

scientific article

Predicting the pathogenicity of RPE65 mutations.

scientific article

Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration

scientific article

Probing mechanisms of photoreceptor degeneration in a new mouse model of the common form of autosomal dominant retinitis pigmentosa due to P23H opsin mutations

scientific article

Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerations

scientific article published on 24 February 2015

Protein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa

scientific article

Pseudo-fovea formation after gene therapy for RPE65-LCA.

scientific article

Psychophysical assessment of visual acuity in infants with visual disorders

scientific article

Pupillary Light Reflexes in Severe Photoreceptor Blindness Isolate the Melanopic Component of Intrinsically Photosensitive Retinal Ganglion Cells.

scientific article

QRX, a novel homeobox gene, modulates photoreceptor gene expression

scientific article

Quantifying rod photoreceptor-mediated vision in retinal degenerations: dark-adapted thresholds as outcome measures

scientific article published in February 2005

RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expression

scientific article

RPGR-associated retinal degeneration in human X-linked RP and a murine model

scientific article

Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness

scientific article published on July 2000

Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration

scientific article

Reduced-illuminance autofluorescence imaging in ABCA4-associated retinal degenerations

scientific article published on May 2007

Remodeling of the Human Retina in Choroideremia: Rab Escort Protein 1 (REP-1) Mutations

article

Reply to Townes-Anderson: RPE65 gene therapy does not alter the natural history of retinal degeneration.

scientific article published in May 2013

Rescue of enzymatic function for disease-associated RPE65 proteins containing various missense mutations in non-active sites

scientific article

Retinal Structure Measurements as Inclusion Criteria for Stem Cell-Based Therapies of Retinal Degenerations

scientific article

Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle

scientific article

Retinal disease course in Usher syndrome 1B due to MYO7A mutations

scientific article published on 7 October 2011

Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration.

scientific article

Retinal disease in Rpe65-deficient mice: comparison to human leber congenital amaurosis due to RPE65 mutations

scientific article published on 19 May 2010

Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene

scientific article

Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively

scientific article

Retinal laminar architecture in human retinitis pigmentosa caused by Rhodopsin gene mutations

scientific article

Retinal morphology and visual pigment levels in 6- and 12-month-old rhesus monkeys fed a taurine-free human infant formula.

scientific article published in October 1993

Retinal optogenetic therapies: clinical criteria for candidacy

scientific article

Retinal pigment epithelium defects in humans and mice with mutations in MYO7A: imaging melanosome-specific autofluorescence.

scientific article

Retinal rod photoreceptor-specific gene mutation perturbs cone pathway development.

scientific article published in July 1999

Rhodopsin levels and retinal function in cats during recovery from vitamin A deficiency

scientific article published on 01 July 1989

Rhodopsin levels and rod-mediated function in abyssinian cats with hereditary retinal degeneration

scientific article published on 01 November 1989

Rhodopsin levels in the central retinas of normal miniature poodles and those with progressive rod-cone degeneration

scientific article published on 01 June 1992

Rhodopsin topography and rod-mediated function in cats with the retinal degeneration of taurine deficiency

scientific article published on 01 October 1987

Rod or cone dysfunction: uniocular presentations

scientific article published on 01 June 1986

S cone-driven but not S cone-type electroretinograms in the enhanced S cone syndrome ⬇️

scientific article published on November 1, 1991

SPATA7: Evolving phenotype from cone-rod dystrophy to retinitis pigmentosa

scientific article

Safety of recombinant adeno-associated virus type 2-RPE65 vector delivered by ocular subretinal injection

scientific article published on 27 April 2006

Screening of the PDE6B gene in patients with autosomal dominant retinitis pigmentosa

scientific article

Sites of disease action in a retinal dystrophy with supernormal and delayed rod electroretinogramb-waves

scientific article published on 01 March 1996

Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa

scientific article published in December 1997

Spinocerebellar ataxia type 7 (SCA7) shows a cone-rod dystrophy phenotype

scientific article

Subconjunctivally implantable hydrogels with degradable and thermoresponsive properties for sustained release of insulin to the retina.

scientific article published on 25 August 2009

Successful arrest of photoreceptor and vision loss expands the therapeutic window of retinal gene therapy to later stages of disease

scientific article

TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness

scientific article

TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa.

scientific article

TULP1 mutations causing early-onset retinal degeneration: preserved but insensitive macular cones

scientific article

Temperature-sensitive retinoid isomerase activity of RPE65 mutants associated with Leber Congenital Amaurosis

scientific article published on 9 March 2015

The Enhanced S Cone Syndrome: An Analysis of Receptoral and Post-receptoral Changes

article

The Usher 1B protein, MYO7A, is required for normal localization and function of the visual retinoid cycle enzyme, RPE65

scientific journal article

The distribution and kinetics of visual pigments in the owl monkey retina

scientific article published in March 1991

The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration

scientific article

Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial

scientific article

Treatment possibilities for retinitis pigmentosa

scientific article published on October 2010

USH1C: a rare cause of USH1 in a non-Acadian population and a founder effect of the Acadian allele

scientific article published in February 2003

Ultrastructure of connecting cilia in different forms of retinitis pigmentosa

scientific article published on May 1, 1992

Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism

scientific article published on 07 May 2008

Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome.

scientific article published on January 2011

Visual Function and Central Retinal Structure in Choroideremia.

scientific article published on July 2016

Visual acuity changes in patients with leber congenital amaurosis and mutations in CEP290

scientific article published on February 2013

Visual acuity development in tyrosinase negative oculocutaneous albinism

article

Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa

scientific article

Visual acuity of the cat.

scientific article published in January 1976

Visual function and rhodopsin levels in humans with vitamin A deficiency

article

Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies

scientific article

Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness

scientific article published in July 2012

Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness

scientific article

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

scientific article

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