Galuh Astuti - Concepedia

Author

Galuh Astuti

Also Known As

G Astuti, G D N Astuti, G. Astuti, G. D. N. Astuti, GDN Astuti, Galuh Astuti, Galuh D N Astuti, Galuh D. N. Astuti, Galuh D.N. Astuti, Galuh Dyah Nur Astuti

Publications

1.8K

Citations

H-Index

Concepts

All Affiliations

Radboud University Medical Center Radboud University Nijmegen Radboud Institute for Molecular Life Sciences Diponegoro University Rotterdam Eye Hospital

About

Galuh Astuti is an author at Radboud University Medical Center specializing in medicine, genetics, and molecular genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	4	4	197
2	Molecular Genetics	3	3	150
3	Biology	1	1	91
4	Cell Biology	1	1	30
5	Molecular Biology	1	1	30

Galuh Astuti

Publications

1.6K

Citations

H-Index

Page 1

	Year	Citations
Presence of Genetic Variants Among Young Men With Severe COVID-19 Caspar I. van der Made, Annet Simons, Janneke Schuurs-Hoeijmakers, JAMA	2020	822
A de novo paradigm for male infertility Manon S. Oud, RM Smits, H E Smith, Nature Communications	2022	97
Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark Galuh Astuti, Mette Bertelsen, Markus N. Preising, European Journal of Human Genetics BiologyMendelian DisorderGenetic DisorderMedicineGenetics	2015	91
Exome sequencing reveals variants in known and novel candidate genes for severe sperm motility disorders Manon S. Oud, Brendan J. Houston, Ludmila Voložonoka, Human Reproduction	2021	70
Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases Zeinab Fadaie, Laura Whelan, Tamar Ben‐Yosef, npj Genomic Medicine	2021	56
Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma Laurence Pierrache, Adva Kimchi, Rinki Ratnapriya, Ophthalmology Somatic VariantMendelian DisorderGenetic DisorderMedicineGenetics	2017	47
Late-Onset Stargardt Disease Due to Mild, Deep-Intronic <i>ABCA4</i> Alleles Esmee H. Runhart, Dyon Valkenburg, Stéphanie S. Cornelis, Investigative Ophthalmology & Visual Science	2019	41
Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping. Anna M. Siemiatkowska, Kentar Arimadyo, Luminita Moruz, PubMed	2011	38
Mutations in <i>AGBL5</i>, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa Galuh Astuti, Gavin Arno, Sarah Hull, Investigative Ophthalmology & Visual Science	2016	38
Novel insights into the molecular pathogenesis of<i><scp>CYP</scp>4V2</i>‐associated Bietti's retinal dystrophy Galuh Astuti, Vincent Sun, Miriam Bauwens, Molecular Genetics & Genomic Medicine Ocular DiseaseMolecular PathogenesisGeneticsMolecular BiologyPathology	2014	30

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