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GALUH DYAH NUR ASTUTI

Universitas Diponegoro S2 - Ilmu Biomedis SINTA ID : 6086873
823
SINTA Score Overall
276
SINTA Score 3Yr
823
Affil Score
276
Affil Score 3Yr
Latest number of publications
  Scopus Analysis  

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa
Q1 as Journal Nature Genetics
Author Order : 24 of 188     Creator : Quinodoz M.
2026 0 cited
Correction to: The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease (Nature Genetics, (2025), 57, 10, (2361-2370), 10.1038/s41588-025-02290-3)
Q1 as Journal Nature Genetics
Author Order : 10 of 64     Creator : Yépez V.A.
2026 0 cited
Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing
Q1 as Journal Genome Research
Author Order : 16 of 53     Creator : Steyaert W.
2025 13 cited
Detection of human cytomegalovirus cell-free DNA in pregnant women with symptomatically infected fetuses: proof-of-concept study
Q1 as Journal Ultrasound in Obstetrics and Gynecology
Author Order : 3 of 10     Creator : Faas B.H.W.
2025 4 cited
Expansion of the ABCA4-Associated Retinopathy Spectrum: Severe Variants Can be Associated With Early-Onset Severe Retinal Dystrophy
Q1 as Journal Investigative Ophthalmology and Visual Science
Author Order : 9 of 15     Creator : Panneman D.M.
2025 2 cited
The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease
Q1 as Journal Nature Genetics
Author Order : 10 of 64     Creator : Yépez V.A.
2025 1 cited
Lipopeptide-mediated Cas9 RNP delivery: A promising broad therapeutic strategy for safely removing deep-intronic variants in ABCA4
Q1 as Journal Molecular Therapy Nucleic Acids
Author Order : 7 of 16     Creator : Vázquez-Domínguez I.
2024 4 cited
Whole genome sequencing identifies elusive variants in genetically unsolved Italian inherited retinal disease patients
Q2 as Journal Human Genetics and Genomics Advances
Author Order : 7 of 15     Creator : Zeuli R.
2024 10 cited
Automatized detection of uniparental disomies in a large cohort
Q1 as Journal Human Genetics
Author Order : 7 of 9     Creator : Moch J.
2024 7 cited
Exome variant prioritization in a large cohort of hearing-impaired individuals indicates IKZF2 to be associated with non-syndromic hearing loss and guides future research of unsolved cases
Q1 as Journal Human Genetics
Author Order : 7 of 47     Creator : Velde H.M.
2024 2 cited
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Summary

Article Quartile
Research Output
  Scopus GScholar WOS
Article 39 63 0
Citation 1393 2034 0
Cited Document 35 39 0
H-Index 17 21
i10-Index 23 27
G-Index 1 1
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