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Introduction to Galaxy Platform for NGS Variant Calling Pipeline2020 Advancements in Life Sciences (University of the Punjab) article Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access
Rashid Saif, Aniqa Ejaz, Tania Mehmood, Suliman Mohammad Alghanem, Talha Saleem Ahmad
5citations -
Surgical outcomes after pancreatic surgery in patients with a germline CDKN2A/p16 pathogenic variant under surveillance2023 British journal of surgery article Medicine Pancreatic and Hepatic Oncology Research Open access
Anke M. Onnekink, Nynke Michiels, Derk C.F. Klatte, Lotte Oldenburg, J. Sven D. Mieog, Alexander L. Vahrmeijer, +3 more
3citations -
Antisense oligonucleotide therapy corrects splicing in the common Stargardt disease type 1-causing variant ABCA4 c.5461-10T>C2023 Molecular Therapy — Nucleic Acids article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Melita Kaltak, Davide Piccolo, Sang‐Eun Lee, Kalyan Dulla, Thomas Hoogenboezem, Wouter Beumer, +5 more
41citations -
Leber's hereditary optic neuropathy like disease in MT-ATP6 variant m.8969G>A2024 American Journal of Ophthalmology Case Reports article Biochemistry, Genetics and Molecular Biology Mitochondrial Function and Pathology Open access
Cansu de Muijnck, Mary J. van Schooneveld, Astrid S. Plomp, Richard J. Rodenburg, Maria M. van Genderen, Camiel J. F. Boon
1citations -
Defining and visualizing process execution variants from partially ordered event data2023 Information Sciences article Business, Management and Accounting Business Process Modeling and Analysis Open access
Daniel Schuster, Francesca Zerbato, Sebastiaan J. van Zelst, Wil M. P. van der Aalst
21citations -
Clinical Phenotype and Course of PDE6A -Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial2020 JAMA Ophthalmology article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Laura Kuehlewein, Ditta Zobor, Sten Andréasson, Carmen Ayuso, Sandro Banfi, Béatrice Bocquet, +19 more
20citations -
Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients2024 Investigative Ophthalmology & Visual Science article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Rachael C. Heath Jeffery, Jennifer A. Thompson, Johnny Lo, Enid S. Chelva, Sean Armstrong, Jose S. Pulido, +36 more
28citations -
Clinical, Genetic, and Histopathological Characteristics of CRX-associated Retinal Dystrophies2024 Ophthalmology Retina article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Leo C. Hahn, Isa van der Veen, Michalis Georgiou, Mary J. van Schooneveld, Jacoline B. ten Brink, Ralph J. Florijn, +5 more
6citations -
Retinitis Pigmentosa GTPase regulator–Associated Retinal Degeneration: Integrating Patient-Reported Outcomes, Genetic, and Structural Biomarkers2025 Ophthalmology Science article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Nuno Gouveia, Jessica S. Karuntu, Hind Almushattat, Rufino Martins da Silva, Camiel J. F. Boon, João Pedro Marques
4citations -
Quality of life in patients with CRB1‐associated retinal dystrophies: A longitudinal study2023 Acta Ophthalmologica article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Jessica S. Karuntu, Xuan‐Thanh‐An Nguyen, Mays Talib, Mary J. van Schooneveld, Jan Wijnholds, Maria M. van Genderen, +9 more
9citations -
The Galician MultiPic: a picture dataset that captures lexical variation2025 Frontiers in Psychology article Psychology Categorization, perception, and language Open access
María Álvarez de la Granja, M. Carmen Parafita Couto, Ana Rita Sá-Leite, Isabel Fraga, Jon Andoni Duñabeitia, Christos Pliatsikas, +1 more
1citations -
Evident hypopigmentation without other ocular deficits in Dutch patients with oculocutaneous albinism type 42021 Scientific Reports article Biochemistry, Genetics and Molecular Biology melanin and skin pigmentation Open access
Charlotte C. Kruijt, Nicoline Elisabeth Schalij-Delfos, Gerard C. de Wit, Ralph J. Florijn, Maria M. van Genderen
15citations -
The Natural History of Leber Congenital Amaurosis and Cone–Rod Dystrophy Associated with Variants in the GUCY2D Gene2022 Ophthalmology Retina article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Leo C. Hahn, Michalis Georgiou, Hind Almushattat, Mary J. van Schooneveld, Emanuel Ramos de Carvalho, Nieneke L. Wesseling, +23 more
22citations -
Systematic study of ophthalmological findings in 10 patients with PEX1 -mediated Zellweger spectrum disorder2024 Ophthalmic Genetics article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Jessica S. Karuntu, Femke C. C. Klouwer, Marc Engelen, Camiel J. F. Boon
5citations -
LEBER CONGENITAL AMAUROSIS DUE TO CEP290 MUTATIONS—SEVERE VISION IMPAIRMENT WITH A HIGH UNMET MEDICAL NEED2021 Retina article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Bart Peter Leroy, David G. Birch, Jacque L. Duncan, Byron L. Lam, Robert K. Koenekoop, Fernanda Belga Ottoni Porto, +2 more
61citations -
KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course—KCNV2 Study Group Report 12020 American Journal of Ophthalmology article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Michalis Georgiou, Anthony G. Robson, Kaoru Fujinami, Shaun M. Leo, Ajoy Vincent, Fadi Nasser, +30 more
33citations