From

Institution

Field

Type

Open access only Cited by patents (Lens) Include non-Aachen papers (citing/cited)

Reset

Papers matching “structural variants” 109

Sort: Relevance Cited Newest Oldest Fwci Patents ⇩ CSV

Not finding it? Sign in to also search OpenAlex live.

Familial cerebral cavernous malformations caused by a novel germline structural variant in the KRIT1 gene
2025 Neurogenetics article Medicine Vascular Malformations Diagnosis and Treatment Open access

Robin A. Pilz, Matthias Begemann, Paranchai Boonsawat, Anita M. Rauch, Ingo Kurth, Ute Felbor

0

citations
Structural mapping of GABRB3 variants reveals genotype-phenotype correlations
2021 medRxiv preprint Medicine Epilepsy research and treatment Open access

Katrine M. Johannesen, Sumaiya Iqbal, Milena Guazzi, Nazanin A. Mohammadi, Eduardo Pérez‐Palma, Élise Schaefer, +41 more

0

citations
Structural mapping of GABRB3 variants reveals genotype–phenotype correlations
2021 Genetics in Medicine article Medicine Epilepsy research and treatment Open access

Katrine M. Johannesen, Sumaiya Iqbal, Milena Guazzi, Nazanin A. Mohammadi, Eduardo Pérez‐Palma, Élise Schaefer, +40 more

23

citations
Structural phylogenetic analysis reveals lineage-specific RNA repetitive structural motifs in all coronaviruses and associated variations in SARS-CoV-2
2021 Virus Evolution article Medicine SARS-CoV-2 and COVID-19 Research Open access cited by 1 patent

Shih-Cheng Chen, René C. L. Olsthoorn, Chien‐Hung Yu

21

citations
Submitting Novel Globin Gene Variants to Hemoglobin
2023 Hemoglobin article Medicine Hemoglobinopathies and Related Disorders Open access

Cornelis L. Harteveld, George P. Patrinos, Joanne Traeger‐Synodinos, Petros Kountouris, Celeste Bento, Adekunle D. Adekile

1

citations
Structure-based prediction of SARS-CoV-2 variant properties using machine learning on mutational neighborhoods
2025 Leiden Repository (Leiden University) article Medicine SARS-CoV-2 and COVID-19 Research Open access

Erik Schultes, Thomas Hankemeier

0

citations
Structure-based prediction of SARS-CoV-2 variant properties using machine learning on mutational neighborhoods
2025 Frontiers in Bioinformatics article Medicine SARS-CoV-2 and COVID-19 Research Open access

Max van den Boom, Erik Schultes, Thomas Hankemeier

0

citations
Role of Tyr-39 for the Structural Features of α-Synuclein and for the Interaction with a Strong Modulator of Its Amyloid Assembly
2020 International Journal of Molecular Sciences article Medicine Parkinson's Disease Mechanisms and Treatments Open access

Oscar Palomino‐Hernández, Fiamma A. Buratti, Pamela S. Sacco, Giulia Rossetti, Paolo Carloni, Claudio O. Fernández

12

citations
Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1
2020 European Journal of Human Genetics article Medicine Fetal and Pediatric Neurological Disorders Open access

Bart Appelhof, Matias Wagner, Julia Hoefele, Timo Roser, Margarete Koch‐Hogrebe, Stefan D. Roosendaal, +10 more

30

citations
The impact of common and rare genetic variants on bradyarrhythmia development
2025 Nature Genetics article Medicine Cardiac electrophysiology and arrhythmias Open access

Lu-Chen C Weng, Joel T Rämö, Sean Joseph Jurgens, Shaan S. Khurshid, Mark D. Chaffin, Amelia Weber Hall, +91 more

27

citations
Rare functional missense variants in CACNA1H: What can we learn from Writer’s cramp?
2021 Molecular Brain article Medicine Neurological disorders and treatments Open access

Miaozhen Huang, Esther A. R. Nibbeling, Tjerk Joppe Lagrand, Ivana Assis Souza, Justus L Groen, María A. Gandini, +7 more

6

citations
Impact of genetic variants on ablation outcomes and left ventricular function in left ventricular cardiomyopathy patients undergoing catheter ablation for atrial arrhythmias
2025 EP Europace article Medicine Cardiac Arrhythmias and Treatments Open access

Sebastian Dittrich, Marta Riva, N Elmasry, Serge A.I.P. Trines, S.R.D. Piers, Reza Alizadeh Dehnavi, +4 more

0

citations
Experience in Genetic Counseling for GBA1 Variants in Parkinson's Disease
2020 Movement Disorders Clinical Practice article Medicine Lysosomal Storage Disorders Research Open access

Jonas M. den Heijer, Jacobus Johannes van Hilten, Anneke J.A. Kievit, Vincenzo Bonifati, Geert Jan Groeneveld

9

citations
Ubiquitin variants potently inhibit SARS-CoV-2 PLpro and viral replication via a novel site distal to the protease active site
2022 PLoS Pathogens article Medicine SARS-CoV-2 and COVID-19 Research Open access

Vera J. E. van Vliet, Nhan Huynh, Judith Palà, Ankoor Patel, Alex U. Singer, Cole Slater, +14 more

34

citations
Pathogenic desmin variants impair nuclear integrity and drive atrial cardiomyopathy
2026 medRxiv preprint Medicine Cardiomyopathy and Myosin Studies Open access

Stan W. van Wijk, Preetam Kishore, Mingxin Huang, H.M. Danish Sultan, Leonoor F. J. M. Wijdeveld, Fabries G. Huiskes, +15 more

0

citations
Structural and functional analysis of the Mycobacterium tuberculosis MmpS5L5 efflux pump presages a pathway to increased bedaquiline resistance
2025 bioRxiv (Cold Spring Harbor Laboratory) preprint Medicine Tuberculosis Research and Epidemiology Open access

Adam J. Fountain, Jan Böhning, Stephen H. McLaughlin, Tomos E. Morgan, Paul H. Edelstein, Mark A. Troll, +4 more

4

citations
Human Prothrombin Variants with Modifications in the Active Site S4 Subpocket Demonstrate Resistance to Dabigatran
2021 Blood conference-abstract Medicine Blood Coagulation and Thrombosis Mechanisms

Viola J.F. Strijbis, Ka Lei Cheung, Tessa A. Rutten, Pieter H. Reitsma, Daniël Verhoef, Mettine H.A. Bos

2

citations
Drosophila melanogaster as a model for unraveling unique molecular features of epilepsy elicited by human GABA transporter 1 variants
2023 Frontiers in Neuroscience article Medicine Epilepsy research and treatment Open access

Ameya Sanjay Kasture, Florian P. Fischer, Melanie Burger, Alexander C. Burgstaller, Ali El‐Kasaby, Thomas Hummel, +1 more

19

citations
Structural and Mechanistic Characterization of the Flavin-Dependent Monooxygenase and Oxidase Involved in Sorbicillinoid Biosynthesis
2025 ACS Chemical Biology article Medicine Microbial Natural Products and Biosynthesis Open access

Gwen Tjallinks, Nicolò Angeleri, Quoc‐Thai Nguyen, Barbara Mannucci, Mark Arentshorst, Jaap Visser, +3 more

7

citations
Structural and functional analysis of the Mycobacterium tuberculosis MmpS5L5 efflux pump presages increased bedaquiline resistance
2025 Proceedings of the National Academy of Sciences article Medicine Tuberculosis Research and Epidemiology Open access

Adam J. Fountain, Jan Böhning, Stephen H. McLaughlin, Tomos E. Morgan, Paul H. Edelstein, Mark A. Troll, +4 more

7

citations
Bi-allelic deleterious variants in SNAPIN, which encodes a retrograde dynein adaptor, cause a prenatal-onset neurodevelopmental disorder
2025 The American Journal of Human Genetics article Medicine Fetal and Pediatric Neurological Disorders Open access

Hammad Yousaf, Maayke A. de Koning, Kamal Khan, Kelly L. Gilmore, Mariëtte J.V. Hoffer, Georgios Kellaris, +20 more

0

citations
Population and family data support TNNT2 p.Arg288Cys as an intermediate effect variant in hypertrophic cardiomyopathy
2026 International Journal of Cardiology article Medicine Cardiomyopathy and Myosin Studies Open access

Talitha C. F. Spanjersberg, Fahima Hassanzada, Jan D.H. Jongbloed, Dennis Dooijes, J. Peter van Tintelen, Folkert Wouter Asselbergs, +5 more

0

citations
ptFVa ( Pseudonaja Textilis Venom-Derived Factor Va) Retains Structural Integrity Following Proteolysis by Activated Protein C
2021 Arteriosclerosis Thrombosis and Vascular Biology article Medicine Blood Coagulation and Thrombosis Mechanisms Open access

Mark Schreuder, Xiaosong Liu, Ka Lei Cheung, Pieter H. Reitsma, Gerry A. F. Nicolaes, Mettine H.A. Bos

2

citations
The Variable Genomic Landscape During Osteosarcoma Progression: Insights From a Longitudinal WGS Analysis
2024 Genes Chromosomes and Cancer article Medicine Sarcoma Diagnosis and Treatment Open access

Debora M. Meijer, Dina Ruano, Inge H. Briaire‐de Bruijn, Pauline M. Wijers‐Koster, Michiel A. J. van de Sande, Hans Gelderblom, +4 more

14

citations
Allogeneic stem cell transplantation from variant-carrying family donors leads to long-term engraftment in Telomere Biology Disorders
2025 Blood Cancer Journal article Medicine Hematopoietic Stem Cell Transplantation Open access

Nergis Güzel, Yannic Schumacher, Kim Kricheldorf, Margherita Vieri, Martin Kirschner, Anne-Claire Gerhard-le Gars, +14 more

0

citations