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Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

Genome medicine, 2018-12, Vol.10 (1), p.95-95, Article 95

2018

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Choroidal imaging in inherited retinal disease using the technique of enhanced depth imaging optical coherence tomography

Graefe's archive for clinical and experimental ophthalmology, 2010-12, Vol.248 (12), p.1719-1728

2010

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No strong evidence to date for an association between RIMS1 and retinal dystrophy

Documenta ophthalmologica, 2023-02, Vol.146 (1), p.93-94

2023

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Cone-driven strong flash electroretinograms in healthy adults: Prevalence of negative waveforms

Documenta ophthalmologica, 2024-02, Vol.148 (1), p.25-36

2024

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Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy

Genetics in medicine, 2021-03, Vol.23 (3), p.488-497

2021

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Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing

Orphanet journal of rare diseases, 2013-08, Vol.8 (1), p.122-122, Article 122

2013

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Functional characteristics of patients with retinal dystrophy that manifest abnormal parafoveal annuli of high density fundus autofluorescence; a review and update

Documenta ophthalmologica, 2008-03, Vol.116 (2), p.79-89

2008

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An atypical case of choroidal neovascularization associated with pseudoxanthoma elasticum treated with intravitreal bevacizumab: a case report

BMC research notes, 2013-12, Vol.6 (1), p.530-530, Article 530

2013

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The symmetry of phenotype between eyes of patients with early and late bilateral age-related macular degeneration (AMD)

Graefe's archive for clinical and experimental ophthalmology, 2011-02, Vol.249 (2), p.209-214

2011

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Investigation of SLA4A3 as a candidate gene for human retinal disease

Journal of negative results in biomedicine, 2016-05, Vol.15 (11), p.11-11, Article 11

2016

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Functional characteristics of patients with retinal dystrophy that manifest abnormal parafoveal annuli of high density fundus autofluorescence; a review and update: Retinal Imaging and Electrophysiology in the Assessment of Retinal Diseases

Documenta ophthalmologica, 2008, Vol.116 (2), p.79-89

2008

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Fundamentals of Silico-Ferrite of Calcium and Aluminum (SFCA) and SFCA-I Iron Ore Sinter Bonding Phase Formation: Effects of CaO:SiO2 Ratio

Metallurgical and materials transactions. B, Process metallurgy and materials processing science, 2014-12, Vol.45 (6), p.2097-2105

2014

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An interaction between synapsin and C9orf72 regulates excitatory synapses and is impaired in ALS/FTD

Acta neuropathologica, 2022-09, Vol.144 (3), p.437-464

2022

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ALG13 X‐linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes

Journal of inherited metabolic disease, 2021-07, Vol.44 (4), p.1001-1012

2021

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Water safety attitudes, risk perception, experiences, and education for households impacted by the 2018 Camp Fire, California

Natural hazards (Dordrecht), 2021-08, Vol.108 (1), p.947-975

2021

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Trade-offs in telemetry tag programming for deep-diving cetaceans: data longevity, resolution, and continuity

Animal biotelemetry, 2023-05, Vol.11 (1), p.1-14

2023

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The involvement of gibberellin signalling in the effect of soil resistance to root penetration on leaf elongation and tiller number in wheat

Plant and soil, 2013-10, Vol.371 (1/2), p.81-94

2013

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The effects of ‘activating’ almonds on consumer acceptance and gastrointestinal tolerance

European journal of nutrition, 2018-12, Vol.57 (8), p.2771-2783

2018

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Total medical costs of treating femoral neck fracture patients with hemi- or total hip arthroplasty: a cost analysis of a multicenter prospective study

Osteoporosis international, 2016-06, Vol.27 (6), p.1999-2008

2016

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Underutilization of Lynch syndrome screening in a multisite study of patients with colorectal cancer

Genetics in medicine, 2013-12, Vol.15 (12), p.933-940

2013

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Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

Choroidal imaging in inherited retinal disease using the technique of enhanced depth imaging optical coherence tomography

Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease

Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

No strong evidence to date for an association between RIMS1 and retinal dystrophy

Cone-driven strong flash electroretinograms in healthy adults: Prevalence of negative waveforms

Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy

Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing

Functional characteristics of patients with retinal dystrophy that manifest abnormal parafoveal annuli of high density fundus autofluorescence; a review and update

An atypical case of choroidal neovascularization associated with pseudoxanthoma elasticum treated with intravitreal bevacizumab: a case report

The symmetry of phenotype between eyes of patients with early and late bilateral age-related macular degeneration (AMD)

Investigation of SLA4A3 as a candidate gene for human retinal disease

ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

Functional characteristics of patients with retinal dystrophy that manifest abnormal parafoveal annuli of high density fundus autofluorescence; a review and update: Retinal Imaging and Electrophysiology in the Assessment of Retinal Diseases

Fundamentals of Silico-Ferrite of Calcium and Aluminum (SFCA) and SFCA-I Iron Ore Sinter Bonding Phase Formation: Effects of CaO:SiO2 Ratio

An interaction between synapsin and C9orf72 regulates excitatory synapses and is impaired in ALS/FTD

ALG13 X‐linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes

Water safety attitudes, risk perception, experiences, and education for households impacted by the 2018 Camp Fire, California

Trade-offs in telemetry tag programming for deep-diving cetaceans: data longevity, resolution, and continuity

Safety, infectivity and immunogenicity of a genetically attenuated blood-stage malaria vaccine

The involvement of gibberellin signalling in the effect of soil resistance to root penetration on leaf elongation and tiller number in wheat

The effects of ‘activating’ almonds on consumer acceptance and gastrointestinal tolerance

Total medical costs of treating femoral neck fracture patients with hemi- or total hip arthroplasty: a cost analysis of a multicenter prospective study

Translational studies of intravenous and intracerebroventricular routes of administration for CNS cellular biodistribution for BMN 250, an enzyme replacement therapy for the treatment of Sanfilippo type B

Underutilization of Lynch syndrome screening in a multisite study of patients with colorectal cancer

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