Search Results - "Gradstein L"

Using deep learning to identify inherited retinal diseases based on wide-field retinal imaging data.

Authors: Joskowicz, Leo Buchbinder, Tim Chodorov, Eldan et al.

Source: PLoS ONE. 5/11/2026, Vol. 21 Issue 5, p1-14. 14p.

FACS-based dual fluorescence reporter assay demonstrates efficacy of antisense oligonucleotide therapy of novel PRPF3 intronic splice variant.

Authors: Dolgin V Eremenko E Narkis G et al.

Source: Molecular therapy. Nucleic acids [Mol Ther Nucleic Acids] 2026 May 08; Vol. 37 (2), pp. 102949. Date of Electronic Publication: 2026 May 08 (Print Publication: 2026).

Publication Type: Journal Article

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 101581621 Publication Model: eCollection Cited Medium: Print ISSN: 2162-2531 (Print) Linking ISSN: 21622531 NLM ISO Abbreviation: Mol Ther Nucleic Acids Subsets: PubMed not MEDLINE

Knocking Down FRMD4A, a Factor Associated with the Brain Development Disorder and a Risk Factor for Alzheimer's Disease, Using RNA-Targeting CRISPR/Cas13 Reveals Its Role in Cell Morphogenesis.

Authors: Honjo, Asahi Yako, Hideji Miyamoto, Yuki et al.

Source: International Journal of Molecular Sciences. Oct2025, Vol. 26 Issue 20, p10083. 17p.

Intellectual disability and retinitis pigmentosa due to a homozygous null SCAPER variant: a clinical and genetic insight with review of the literature.

Authors: Manav Yiğit, Zehra Dikbaş, Osman Semih Erkan, Erol et al.

Source: Ophthalmic Genetics. Oct2025, Vol. 46 Issue 5, p463-467. 5p.

Genetics of inherited retinal dystrophies – Global insights and the importance of Omani research.

Authors: Harikrishna, Beena Al-Hattali, Amira Salim Al-Lawati, Fatma et al.

Source: Oman Journal of Ophthalmology. Sep-Dec2025, Vol. 18 Issue 3, p263-266. 4p.

Author Index Vol. 214, No. 3, 2000.

Source: Ophthalmologica. 2000, Vol. 214 Issue 3, p233-236. 4p.

A Case of Chorea with Slow Saccades Caused by NKX2‐1 Mutation.

Authors: Vercammen, Johanna Terryn, Joke Van Daele, Sien et al.

Source: Movement Disorders Clinical Practice. Jun2024, Vol. 11 Issue 6, p738-741. 4p.

CCDC174 deficiency impaired human fertility by affecting the alternative splicing of maternal mRNAs.

Authors: Wang W Pan Z Jing H et al.

Source: EMBO molecular medicine [EMBO Mol Med] 2026 Jun; Vol. 18 (6), pp. 2436-2454. Date of Electronic Publication: 2026 May 12.

Publication Type: Journal Article

Journal Info: Publisher: EMBO Press Country of Publication: Germany NLM ID: 101487380 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1757-4684 (Electronic) Linking ISSN: 17574676 NLM ISO Abbreviation: EMBO Mol Med Subsets: MEDLINE

A novel founder variant in BEST1 gene causing autosomal recessive bestrophinopathy.

Authors: Elbagoury, Nagham Maher Tawfik, Caroline Atef Abdel-Aleem, Asmaa Fawzy et al.

Source: Orphanet Journal of Rare Diseases. 5/25/2025, Vol. 20 Issue 1, p1-11. 11p.

The Genetic Landscape of Paediatric Cataract in Saudi Arabia: A Two-Decade Cohort with Novel Variants, Genotype–Phenotype Correlations, and Bioinformatic Analysis.

Authors: Alsugair, Mashael Alsuhaym, Fay Aldharee, Hitham et al.

Source: Journal of Clinical Medicine. Mar2026, Vol. 15 Issue 6, p2420. 15p.

Candidate Genes for Non-Syndromic Pediatric Cataracts.

Authors: Rossen, Jennifer L Drackley, Andy Weisman, Allison Goetsch et al.

Source: Clinical Ophthalmology. Mar2026, Vol. 20, p1-19. 19p.

The Role of Metal Ions in Mitochondria: From Energy Metabolism to Cell Destiny.

Authors: Li C Liu H Mao Q et al.

Source: Biological trace element research [Biol Trace Elem Res] 2026 Aug; Vol. 204 (8), pp. 6281-6302. Date of Electronic Publication: 2026 Apr 22.

Publication Type: Journal Article; Review

Journal Info: Publisher: Humana Press Country of Publication: United States NLM ID: 7911509 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1559-0720 (Electronic) Linking ISSN: 01634984 NLM ISO Abbreviation: Biol Trace Elem Res Subsets: MEDLINE

Biliary, Renal, Neurological, and Skeletal syndrome in a Chinese boy.

Authors: Yang, Wu Li, Xiao-Yu Ma, Li-Juan et al.

Source: Pediatric Nephrology. Apr2025, Vol. 40 Issue 4, p947-949. 3p.

The importance of genetic counselling and testing in inherited eye diseases: A population-based retrospective study.

Authors: Kaminer Abargel, Michal Macarov, Michal Hendler, Karen et al.

Source: PLoS ONE. 2/13/2025, Vol. 20 Issue 2, p1-8. 8p.

A novel homozygous nonsense variant in CABP4 causing stationary cone/rod synaptic dysfunction.

Authors: Hauser, Blake M. Place, Emily Huckfeldt, Rachel et al.

Source: Ophthalmic Genetics. Dec2024, Vol. 45 Issue 6, p640-645. 6p.

Tissue-aware interpretation of genetic variants advances the etiology of rare diseases.

Authors: Argov, Chanan M Shneyour, Ariel Jubran, Juman et al.

Source: Molecular Systems Biology. Nov2024, Vol. 20 Issue 11, p1187-1206. 20p.

Expanding the mutational spectrum of FHONDA syndrome.

Authors: Shoji, Marissa K. Khodeiry, Mohamed M. Sengillo, Jesse D. et al.

Source: Ophthalmic Genetics. Dec2023, Vol. 44 Issue 6, p602-605. 4p.

Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.

Authors: Biswas, Pooja Villanueva, Adda L. Soto-Hermida, Angel et al.

Source: PLoS Genetics. 10/18/2021, Vol. 17 Issue 10, p1-33. 33p.

Homozygosity for a Rare Plec Variant Suggests a Contributory Role in Congenital Insensitivity to Pain.

Authors: Kantaputra, Piranit Daroontum, Teerada Kitiyamas, Kantapong et al.

Source: International Journal of Molecular Sciences. Jun2024, Vol. 25 Issue 12, p6358. 24p.

Exploring the evidence for mitochondrial dysfunction and genetic abnormalities in the etiopathogenesis of tropical ataxic neuropathy.

Authors: Sharma, Shivani Mahadevan, Anita Narayanappa, Gayathri et al.

Source: Journal of Neurogenetics. Jun2024, Vol. 38 Issue 2, p27-34. 8p.