Drosophila Models Reveal NAT Complex Roles in Heart Development and Enable Functional Validation of Congenital Heart Disease Variants

Authors: Jun-Yi Zhu, Hannah Seah, Hangnoh Lee, Hanhan Liu, Zhe Han

Source: Cells, Vol 14, Iss 20, p 1596 (2025)

Subject Terms: N-terminal acetyltransferase, congenital heart disease, Drosophila, NAA16 variant validation, heart development, Cytology, QH573-671

File Description: electronic resource

Relation: https://www.mdpi.com/2073-4409/14/20/1596; https://doaj.org/toc/2073-4409

Access URL: https://doaj.org/article/35ed59663df8485f94e37225902f18d8

Rapidly Progressive Peripheral Artery Disease: Importance of Oligogenic Inheritance and Functional Validation

Authors: Lisa Dangreau, Yvonne Nitschke, Frank Rutsch, Olivier M. Vanakker

Source: CIRCULATION-GENOMIC AND PRECISION MEDICINE

Subject Terms: Male, Adult, functional variant validation, Multifactorial Inheritance, Peripheral Arterial Disease, Medicine and Health Sciences, Disease Progression, blood pressure, Humans, oligogenic inheritance, peripheral artery disease, smoking

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/38916187
http://hdl.handle.net/1854/LU-01JQ6VEFB5QQGBB9BCN489YNDB
https://biblio.ugent.be/publication/01JQ6VEFB5QQGBB9BCN489YNDB
https://biblio.ugent.be/publication/01JQ6VEFB5QQGBB9BCN489YNDB/file/01KPNHV0YVXP00DCHMBXM36V1W
http://doi.org/10.1161/CIRCGEN.124.004574

International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias

Authors: Chen, Brenden ¹, Whatley, Sharon ², Badminton, Michael ³, Aarsand, Aasne K. ⁴, Anderson, Karl E. ⁵, Bissell, D. Montgomery ⁶, Bonkovsky, Herbert L. ⁷, Cappellini, Maria D. ⁸, Floderus, Ylva ⁹, Friesema, Edith C.H. ¹⁰, Gouya, Laurent ¹¹, Harper, Pauline ⁹, Kauppinen, Raili ¹², Loskove, Yonina ¹, Martásek, Pavel ¹³, Phillips, John D. ¹⁴, Puy, Hervé ¹¹, Sandberg, Sverre ^{4, 15}, Schmitt, Caroline ¹¹, To-Figueras, Jordi ¹⁶, Weiss, Yedidyah ¹, Yasuda, Makiko ¹, Deybach, Jean-Charles ¹¹, Desnick, Robert J. ¹

Source: In Genetics in Medicine November 2019 21(11):2605-2613

Precise in vivo functional analysis of DNA variants with base editing using ACEofBASEs target prediction

Authors: Alex Cornean, Jakob Gierten, Bettina Welz, Juan Luis Mateo, Thomas Thumberger, Joachim Wittbrodt

Source: eLife, Vol 11 (2022)

Subject Terms: medaka, base editing, disease variant validation, SNV, Medicine, Science, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://elifesciences.org/articles/72124; https://doaj.org/toc/2050-084X

Access URL: https://doaj.org/article/f07c3ffac51544a2a599d72722eb004d

A polyclonal allelic expression assay for detecting regulatory effects of transcript variants

Authors: Margot Brandt, Alper Gokden, Marcello Ziosi, Tuuli Lappalainen

Source: Genome Medicine, Vol 12, Iss 1, Pp 1-10 (2020)

Subject Terms: CRISPR/Cas9 genome editing, Variant validation, Regulatory variation, eQTL, Nonsense-mediated decay, Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s13073-020-00777-8; https://doaj.org/toc/1756-994X

Access URL: https://doaj.org/article/5c02002d9485492dbf593ce07bcf66b2

Precise in vivo functional analysis of DNA variants with base editing using ACEofBASEs target prediction

Authors: Cornean, Alex, Gierten, Jakob, Welz, Bettina, Mateo, Juan Luis, Thumberger, Thomas, Wittbrodt, Joachim

Source: eLife
Scopus
RUO. Repositorio Institucional de la Universidad de Oviedo
Universidad de Oviedo (UNIOVI)
eLife, Vol 11 (2022)

Subject Terms: Gene Editing, 0301 basic medicine, medaka, 0303 health sciences, base editing, disease variant validation, QH301-705.5, Science, Adenine, DNA, 3. Good health, Cytosine, 03 medical and health sciences, SNV, Mutation, Medicine, Animals, Biology (General), CRISPR-Cas Systems, Zebrafish, Developmental Biology

Access URL: https://www.biorxiv.org/content/biorxiv/early/2021/07/26/2021.07.26.453883.full.pdf
https://pubmed.ncbi.nlm.nih.gov/35373735
https://doaj.org/article/f07c3ffac51544a2a599d72722eb004d
http://hdl.handle.net/10651/65952

A polyclonal allelic expression assay for detecting regulatory effects of transcript variants

Authors: Margot Brandt, Alper Gokden, Marcello Ziosi, Tuuli Lappalainen

Source: Genome Med
Genome Medicine, Vol 12, Iss 1, Pp 1-10 (2020)

Subject Terms: Transcription, Genetic, CRISPR/Cas9 genome editing, Quantitative Trait Loci, Method, QH426-470, eQTL, Regulatory variation, Genetics, Humans, Human gene mapping, Alleles, Gene Editing, Human genome, Human genetics--Variation, Genetic Variation, Rare diseases, Nonsense Mediated mRNA Decay, HEK293 Cells, Gene Expression Regulation, Nonsense-mediated decay, Medicine, CRISPR-Cas Systems, Variant validation

Access URL: https://genomemedicine.biomedcentral.com/track/pdf/10.1186/s13073-020-00777-8
https://pubmed.ncbi.nlm.nih.gov/32912286
https://doaj.org/article/5c02002d9485492dbf593ce07bcf66b2

Unmet Needs in Dystonia: Genetics and Molecular Biology—How Many Dystonias?

Authors: Verbeek, Dineke S, Gasser, Thomas

Source: Front Neurol
Frontiers in neurology 7, 241 (2017). doi:10.3389/fneur.2016.00241

Subject Terms: 0301 basic medicine, variant validation, 03 medical and health sciences, 0302 clinical medicine, GWAS, genetics, dystonia, whole-exome sequencing, Neuroscience, 3. Good health

Access URL: https://www.frontiersin.org/articles/10.3389/fneur.2016.00241/pdf
https://pubmed.ncbi.nlm.nih.gov/28138320
https://pub.dzne.de/record/138966

Long-read nanopore sequencing enables accurate confirmation of a recurrent PMS2 insertion–deletion variant located in a region of complex genomic architecture

Authors: Watson, Christopher M. ^{a, b, ⁎}, Crinnion, Laura A. ^{a, b}, Simmonds, Jennifer ^a, Camm, Nick ^a, Adlard, Julian ^c, Bonthron, David T. ^{b, c}

Source: In Cancer Genetics August 2021 256-257:122-126

Application of CRISPR Tools for Variant Interpretation and Disease Modeling in Inherited Retinal Dystrophies

Authors: Carla Fuster-García, Belén García-Bohórquez, Ana Rodríguez-Muñoz, José M. Millán, Gema García-García

Source: Genes ; Volume 11 ; Issue 5 ; Pages: 473

Subject Terms: retinal diseases, gene editing, CRISPR, cellular models, animal models, variants of unknown significance, functional studies, variant validation

File Description: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes11050473

Availability: https://doi.org/10.3390/genes11050473

VarSim: A Python Toolkit for HGVS Variant Description Validation, Normalization, and Representation Conversion.

Authors: Sun L; Department of Computer Science School of Engineering Yuxi Normal University Yuxi China yxnu.net.; Yunnan Key Laboratory of Smart City in Cyberspace Security Yuxi Normal University Yuxi China yxnu.net., Wang R; Department of Computer Science School of Engineering Yuxi Normal University Yuxi China yxnu.net.; Yunnan Key Laboratory of Smart City in Cyberspace Security Yuxi Normal University Yuxi China yxnu.net., Yang J; Department of Computer Science School of Engineering Yuxi Normal University Yuxi China yxnu.net.; Yunnan Key Laboratory of Smart City in Cyberspace Security Yuxi Normal University Yuxi China yxnu.net.

Source: Human mutation [Hum Mutat] 2026 Oct 09; Vol. 2026, pp. 6006096. Date of Electronic Publication: 2026 Oct 09 (Print Publication: 2026).

Publication Type: Journal Article

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: eCollection Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

MeSH Terms: Genomics*/methods , Computational Biology*/methods , Software* , Genome, Human* , Genetic Variation*, Humans ; Databases, Genetic ; Reproducibility of Results ; Polymorphism, Single Nucleotide

Unmet Needs in Dystonia:Genetics and Molecular Biology-How Many Dystonias?

Authors: Verbeek, Dineke S., Gasser, Thomas

Source: Verbeek, D S & Gasser, T 2017, 'Unmet Needs in Dystonia : Genetics and Molecular Biology-How Many Dystonias?', Frontiers in Neurology, vol. 7, 241.

Index Terms: dystonia, genetics, GWAS, whole-exome sequencing, variant validation, GENOME-WIDE ASSOCIATION, DOPA-RESPONSIVE PARKINSONISM, MYOCLONUS-DYSTONIA, CERVICAL DYSTONIA, TORSION DYSTONIA, HUMAN-DISEASE, RISK LOCI, MUTATIONS, VARIANTS, PHENOTYPE, info:eu-repo/semantics/review, info:eu-repo/semantics/publishedVersion

URL: https://research.rug.nl/en/publications/e1b1cf47-4a88-4508-b7be-8198b2b57574
https://doi.org/10.3389/fneur.2016.00241
https://hdl.handle.net/11370/e1b1cf47-4a88-4508-b7be-8198b2b57574
https://pure.rug.nl/ws/files/39744242/Unmet_Needs_in_Dystonia_Genetics_and_Molecular_Biology.pdf
info:eu-repo/semantics/altIdentifier/doi/10.3389/fneur.2016.00241
info:eu-repo/semantics/altIdentifier/pmid/28138320
info:eu-repo/semantics/altIdentifier/wos/000391814100001
info:eu-repo/semantics/altIdentifier/hdl/https://hdl.handle.net/11370/e1b1cf47-4a88-4508-b7be-8198b2b57574
info:eu-repo/semantics/altIdentifier/pissn/1664-2295
info:eu-repo/semantics/altIdentifier/eissn/1664-2295