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739534

Funded outputs count: 11
Funder award ID: 739534
OpenAlex ID: G4138501637
GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment
2024 · Andrea Zanetti, Gwendal Dujardin, et al. · Nature Communications · 6
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Individual Prognostication of Disease Activity and Disability Worsening in Multiple Sclerosis With Retinal Layer Thickness z Scores
2024 · Ting-Yi Lin, Seyedamirhosein Motamedi, et al. · Neurology Neuroimmunology & Neuroinflammation · 11
Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP Framework
2023 · Stéphanie S. Cornelis, Miriam Bauwens, et al. · Human Mutation · 20
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Efficacy of Carbonic Anhydrase Inhibitors on Cystoid Fluid Collections and Visual Acuity in Patients with X-Linked Retinoschisis
2023 · Jonathan Hensman, Leo C. Hahn, et al. · Ophthalmology Retina · 17
Recommendations for whole genome sequencing in diagnostics for rare diseases
2022 · Erika Souche, Sergi Beltran, et al. · European Journal of Human Genetics · 126
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The Natural History of Leber Congenital Amaurosis and Cone–Rod Dystrophy Associated with Variants in the GUCY2D Gene
2022 · Leo C. Hahn, Michalis Georgiou, et al. · Ophthalmology Retina · 22
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A qualitative study among patients with an inherited retinal disease on the meaning of genomic unsolicited findings
2021 · Marlies Saelaert, Heidi Mertes, et al. · Scientific Reports · 10
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Long-Read Sequencing to Unravel Complex Structural Variants of CEP78 Leading to Cone-Rod Dystrophy and Hearing Loss
2021 · Giulia Ascari, Nanna D. Rendtorff, et al. · Frontiers in Cell and Developmental Biology · 25
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Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic RPGRIP1 Pathologic Variant in the French Leber Congenital Amaurosis Cohort
2021 · Isabelle Perrault, Sylvain Hanein, et al. · Genes · 8
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Phenocopy of a heterozygous carrier of X-linked retinitis pigmentosa due to mosaicism for a RHO variant
2021 · Ine Strubbe, Caroline Van Cauwenbergh, et al. · Scientific Reports · 7
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Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement
2020 · Sabrina Mechaussier, Basamat Almoallem, et al. · The American Journal of Human Genetics · 37
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