
OpenAlex is a bibliographic catalogue of scientific papers, authors and institutions accessible in open access mode, named after the Library of Alexandria. It's citation coverage is excellent and I hope you will find utility in this listing of citing articles!
If you click the article title, you'll navigate to the article, as listed in CrossRef. If you click the Open Access links, you'll navigate to the "best Open Access location". Clicking the citation count will open this listing for that article. Lastly at the bottom of the page, you'll find basic pagination options.
Requested Article:
Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory
Richard Caswell, Adam C. Gunning, Martina Owens, et al.
Genome Medicine (2022) Vol. 14, Iss. 1
Open Access | Times Cited: 22
Richard Caswell, Adam C. Gunning, Martina Owens, et al.
Genome Medicine (2022) Vol. 14, Iss. 1
Open Access | Times Cited: 22
Showing 22 citing articles:
Applications of artificial intelligence in clinical laboratory genomics
Swaroop Aradhya, Flavia M. Facio, Hillery C. Metz, et al.
American Journal of Medical Genetics Part C Seminars in Medical Genetics (2023) Vol. 193, Iss. 3
Open Access | Times Cited: 28
Swaroop Aradhya, Flavia M. Facio, Hillery C. Metz, et al.
American Journal of Medical Genetics Part C Seminars in Medical Genetics (2023) Vol. 193, Iss. 3
Open Access | Times Cited: 28
PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework
Alexander J.M. Dingemans, Max Hinne, Kim M. G. Truijen, et al.
Nature Genetics (2023) Vol. 55, Iss. 9, pp. 1598-1607
Open Access | Times Cited: 26
Alexander J.M. Dingemans, Max Hinne, Kim M. G. Truijen, et al.
Nature Genetics (2023) Vol. 55, Iss. 9, pp. 1598-1607
Open Access | Times Cited: 26
Functional Characterization and In Silico Prediction Tools Improve the Pathogenicity Prediction of Novel Bile Acid Transporter Variants
Ziyue Peng, Xin Wang, Ying Li, et al.
Clinical Genetics (2025)
Open Access
Ziyue Peng, Xin Wang, Ying Li, et al.
Clinical Genetics (2025)
Open Access
Identification and functional analysis of a novel SMARCC2 splicing variant in a family with syndromic neurodevelopmental disorder
Minghui Li, Jingqi Lin, Hongjun Fei, et al.
Orphanet Journal of Rare Diseases (2025) Vol. 20, Iss. 1
Open Access
Minghui Li, Jingqi Lin, Hongjun Fei, et al.
Orphanet Journal of Rare Diseases (2025) Vol. 20, Iss. 1
Open Access
Two de novo UBR1 variants in trans as a cause of Johanson-Blizzard syndrome
Lukáš Strych, Tomáš Zavoral, Pavla Komrsková, et al.
Biomedical Papers (2025)
Open Access
Lukáš Strych, Tomáš Zavoral, Pavla Komrsková, et al.
Biomedical Papers (2025)
Open Access
VarMeter2: An enhanced structure-based methodfmovi for predicting pathogenic missense variants through Mahalanobis distance
Shiho Ohno, Chika Ogura, Akinori Yabuki, et al.
Computational and Structural Biotechnology Journal (2025) Vol. 27, pp. 1034-1047
Open Access
Shiho Ohno, Chika Ogura, Akinori Yabuki, et al.
Computational and Structural Biotechnology Journal (2025) Vol. 27, pp. 1034-1047
Open Access
Systematic use of protein free energy changes for classifying variants of uncertain significance: the case of IFT140 in Mainzer-Saldino Syndrome
Macarena Gajardo, J. Luis Guerrero, Bárbara Poblete, et al.
Frontiers in Molecular Biosciences (2025) Vol. 12
Open Access
Macarena Gajardo, J. Luis Guerrero, Bárbara Poblete, et al.
Frontiers in Molecular Biosciences (2025) Vol. 12
Open Access
Incorporating functional genomics into the pathology-supported genetic testing framework implemented in South Africa: A future view of precision medicine for breast carcinomas
Claudia Christowitz, Daniel Wilhelm Olivier, J Schneider, et al.
Mutation Research/Reviews in Mutation Research (2024) Vol. 793, pp. 108492-108492
Open Access | Times Cited: 2
Claudia Christowitz, Daniel Wilhelm Olivier, J Schneider, et al.
Mutation Research/Reviews in Mutation Research (2024) Vol. 793, pp. 108492-108492
Open Access | Times Cited: 2
Association of epilepsy and neurological impairments with homozygous recessive missense mutations found in the genes responsible for ganglioside biosynthesis ( ST3GAL5 ) and calcium voltage-gated channels ( CACNA1H ) - insights through molecular dynamic simulations
Rizwan Abid, Haseeb Nisar, Safee Ullah Chaudhary, et al.
Journal of Biomolecular Structure and Dynamics (2024), pp. 1-12
Closed Access | Times Cited: 1
Rizwan Abid, Haseeb Nisar, Safee Ullah Chaudhary, et al.
Journal of Biomolecular Structure and Dynamics (2024), pp. 1-12
Closed Access | Times Cited: 1
Destabilization and Degradation of a Disease-Linked PGM1 Protein Variant
Frederik Gouliaev, Nicolas Jonsson, Sarah Gersing, et al.
Biochemistry (2024) Vol. 63, Iss. 11, pp. 1423-1433
Closed Access | Times Cited: 1
Frederik Gouliaev, Nicolas Jonsson, Sarah Gersing, et al.
Biochemistry (2024) Vol. 63, Iss. 11, pp. 1423-1433
Closed Access | Times Cited: 1
VUStruct: a compute pipeline for high throughput and personalized structural biology
Christopher W. Moth, Jonathan H. Sheehan, Abdullah Al Mamun, et al.
bioRxiv (Cold Spring Harbor Laboratory) (2024)
Open Access | Times Cited: 1
Christopher W. Moth, Jonathan H. Sheehan, Abdullah Al Mamun, et al.
bioRxiv (Cold Spring Harbor Laboratory) (2024)
Open Access | Times Cited: 1
Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access
Sian Ellard, Siân Morgan, Sarah Wynn, et al.
Journal of Medical Genetics (2024) Vol. 61, Iss. 12, pp. 1103-1112
Closed Access | Times Cited: 1
Sian Ellard, Siân Morgan, Sarah Wynn, et al.
Journal of Medical Genetics (2024) Vol. 61, Iss. 12, pp. 1103-1112
Closed Access | Times Cited: 1
Resurgence of Dengue Virus Serotype 4 in Malaysia: A Comprehensive Clinicodemographic and Genomic Analysis
Jeyanthi Suppiah, Ernie Zuraida Ali, Mohd Khairul Nizam Mohd Khalid, et al.
Tropical Medicine and Infectious Disease (2023) Vol. 8, Iss. 8, pp. 409-409
Open Access | Times Cited: 3
Jeyanthi Suppiah, Ernie Zuraida Ali, Mohd Khairul Nizam Mohd Khalid, et al.
Tropical Medicine and Infectious Disease (2023) Vol. 8, Iss. 8, pp. 409-409
Open Access | Times Cited: 3
PhenoScore: AI-based phenomics to quantify rare disease and genetic variation
Alexander J.M. Dingemans, Max Hinne, Kim M. G. Truijen, et al.
medRxiv (Cold Spring Harbor Laboratory) (2022)
Open Access | Times Cited: 5
Alexander J.M. Dingemans, Max Hinne, Kim M. G. Truijen, et al.
medRxiv (Cold Spring Harbor Laboratory) (2022)
Open Access | Times Cited: 5
Candidate variants in DNA replication and repair genes in early-onset renal cell carcinoma patients referred for germline testing
Elena V. Demidova, Ilya G. Serebriiskii, Ramilia Vlasenkova, et al.
BMC Genomics (2023) Vol. 24, Iss. 1
Open Access | Times Cited: 2
Elena V. Demidova, Ilya G. Serebriiskii, Ramilia Vlasenkova, et al.
BMC Genomics (2023) Vol. 24, Iss. 1
Open Access | Times Cited: 2
Phenotypic Diversity in GNAO1 Patients: A Comprehensive Overview of Variants and Phenotypes
Maria Sáez González, Kes Kloosterhuis, Laura van de Pol, et al.
Human Mutation (2023) Vol. 2023, pp. 1-16
Open Access | Times Cited: 2
Maria Sáez González, Kes Kloosterhuis, Laura van de Pol, et al.
Human Mutation (2023) Vol. 2023, pp. 1-16
Open Access | Times Cited: 2
Evaluating the use of paralogous protein domains to increase data availability for missense variant classification
Adam C. Gunning, Caroline F. Wright
Genome Medicine (2023) Vol. 15, Iss. 1
Open Access | Times Cited: 2
Adam C. Gunning, Caroline F. Wright
Genome Medicine (2023) Vol. 15, Iss. 1
Open Access | Times Cited: 2
Molecular, Biochemical, and Clinical Characterization of Thirteen Patients with Glycogen Storage Disease 1a in Malaysia
Siti Aishah Abdul Wahab, Yusnita Yakob, Mohd Khairul Nizam Mohd Khalid, et al.
Genetics Research (2022) Vol. 2022, pp. 1-7
Open Access | Times Cited: 4
Siti Aishah Abdul Wahab, Yusnita Yakob, Mohd Khairul Nizam Mohd Khalid, et al.
Genetics Research (2022) Vol. 2022, pp. 1-7
Open Access | Times Cited: 4
Functional and Molecular Characterization of New SPTLC1 Missense Variants in Patients with Hereditary Sensory and Autonomic Neuropathy Type 1 (HSAN1)
Julie Rochat, André Blavier, Séverine Ruet, et al.
Genes (2024) Vol. 15, Iss. 6, pp. 692-692
Open Access
Julie Rochat, André Blavier, Séverine Ruet, et al.
Genes (2024) Vol. 15, Iss. 6, pp. 692-692
Open Access
Structural dynamics of the intrinsically disordered linker region of cardiac troponin T
Jasmine Cubuk, Lina Greenberg, Akiva E. Greenberg, et al.
bioRxiv (Cold Spring Harbor Laboratory) (2024)
Open Access
Jasmine Cubuk, Lina Greenberg, Akiva E. Greenberg, et al.
bioRxiv (Cold Spring Harbor Laboratory) (2024)
Open Access
Using metabolic abnormalities of carriers in the neonatal period to evaluate the pathogenicity of variants of uncertain significance in methylmalonic acidemia
Dongfan Xiao, Congcong Shi, Yinchun Zhang, et al.
Frontiers in Genetics (2024) Vol. 15
Open Access
Dongfan Xiao, Congcong Shi, Yinchun Zhang, et al.
Frontiers in Genetics (2024) Vol. 15
Open Access
Integrated Bioinformatic Approach for Precision Medicine: Prediction of Human GABRG2 Gene Pathogenic Variants, Characterized with Cellular Pathology and Epilepsy Phenotype Severity
Nabaa Khudhair Abdullah, Ayla Arslan
Süleyman Demirel Üniversitesi Fen Bilimleri Enstitüsü Dergisi (2024), pp. 300-315
Open Access
Nabaa Khudhair Abdullah, Ayla Arslan
Süleyman Demirel Üniversitesi Fen Bilimleri Enstitüsü Dergisi (2024), pp. 300-315
Open Access
Orthogonal analysis of variants in APOE gene using in-silico approaches reveals novel disrupting variants
Chang Li, Ian Hou, Mingjia Ma, et al.
Frontiers in Bioinformatics (2023) Vol. 3
Open Access
Chang Li, Ian Hou, Mingjia Ma, et al.
Frontiers in Bioinformatics (2023) Vol. 3
Open Access