OpenAlex Citation Counts

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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:

Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders
Bekim Sadiković, Michael A. Levy, Jennifer Kerkhof, et al.
Genetics in Medicine (2021) Vol. 23, Iss. 6, pp. 1065-1074
Open Access | Times Cited: 147

Showing 1-25 of 147 citing articles:

A guide for the diagnosis of rare and undiagnosed disease: beyond the exome
Shruti Marwaha, Joshua W. Knowles, Euan A. Ashley
Genome Medicine (2022) Vol. 14, Iss. 1
Open Access | Times Cited: 224

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders
Michael A. Levy, Haley McConkey, Jennifer Kerkhof, et al.
Human Genetics and Genomics Advances (2021) Vol. 3, Iss. 1, pp. 100075-100075
Open Access | Times Cited: 117

Beyond the exome: What’s next in diagnostic testing for Mendelian conditions
Monica H. Wojcik, Chloe M. Reuter, Shruti Marwaha, et al.
The American Journal of Human Genetics (2023) Vol. 110, Iss. 8, pp. 1229-1248
Open Access | Times Cited: 65

Validation of the new EPIC DNA methylation microarray (900K EPIC v2) for high-throughput profiling of the human DNA methylome
Aleix Noguera‐Castells, Carlos A. García‐Prieto, Damiana Álvarez‐Errico, et al.
Epigenetics (2023) Vol. 18, Iss. 1
Open Access | Times Cited: 53

The expanding diagnostic toolbox for rare genetic diseases
Kristin D. Kernohan, Kym M. Boycott
Nature Reviews Genetics (2024) Vol. 25, Iss. 6, pp. 401-415
Closed Access | Times Cited: 29

Rapid genomic sequencing for genetic disease diagnosis and therapy in intensive care units: a review
Stephen F. Kingsmore, Russell Nofsinger, Kasia Ellsworth
npj Genomic Medicine (2024) Vol. 9, Iss. 1
Open Access | Times Cited: 20

Clinical evaluation of long-read sequencing-based episignature detection in developmental disorders
Mathilde Geysens, Benjamin Huremagic, Erika Souche, et al.
Genome Medicine (2025) Vol. 17, Iss. 1
Open Access | Times Cited: 3

How to proceed after “negative” exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques
Saskia B. Wortmann, Machteld M. Oud, Mariëlle Alders, et al.
Journal of Inherited Metabolic Disease (2022) Vol. 45, Iss. 4, pp. 663-681
Open Access | Times Cited: 56

Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders
Michael A. Levy, Raissa Relator, Haley McConkey, et al.
Human Mutation (2022) Vol. 43, Iss. 11, pp. 1609-1628
Open Access | Times Cited: 49

Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications
Gaby Schobers, Jolanda Schieving, Helger G. Yntema, et al.
Genome Medicine (2022) Vol. 14, Iss. 1
Open Access | Times Cited: 41

Five years of experience in the Epigenetics and Chromatin Clinic: what have we learned and where do we go from here?
Jacqueline Harris, Christine W. Gao, Jacquelyn Britton, et al.
Human Genetics (2023) Vol. 143, Iss. 4, pp. 607-624
Open Access | Times Cited: 22

Sequential sequencing by synthesis and the next-generation sequencing revolution
Mathias Uhlén, Stephen R. Quake
Trends in biotechnology (2023) Vol. 41, Iss. 12, pp. 1565-1572
Open Access | Times Cited: 20

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability
Elke Bogaert, Aurore Garde, Thierry Gautier, et al.
The American Journal of Human Genetics (2023) Vol. 110, Iss. 5, pp. 790-808
Open Access | Times Cited: 19

A review on trends in development and translation of omics signatures in cancer
Wei Ma, Wenshu Tang, Jamie Sui-Lam Kwok, et al.
Computational and Structural Biotechnology Journal (2024) Vol. 23, pp. 954-971
Open Access | Times Cited: 7

Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement
Christy W. LaFlamme, Cassandra Rastin, Soham Sengupta, et al.
Nature Communications (2024) Vol. 15, Iss. 1
Open Access | Times Cited: 6

DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies
Jennifer Kerkhof, Gabriella Maria Squeo, Haley McConkey, et al.
Genetics in Medicine (2021) Vol. 24, Iss. 1, pp. 51-60
Open Access | Times Cited: 35

First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders
Deborah Mackay, Jet Bliek, Masayo Kagami, et al.
Clinical Epigenetics (2022) Vol. 14, Iss. 1
Open Access | Times Cited: 24

DNA Methylation Biomarkers for Young Children with Idiopathic Autism Spectrum Disorder: A Systematic Review
Andrea Stoccoro, Eugenia Conti, Elena Scaffei, et al.
International Journal of Molecular Sciences (2023) Vol. 24, Iss. 11, pp. 9138-9138
Open Access | Times Cited: 15

The omics era: a nexus of untapped potential for Mendelian chromatinopathies
Aileen A. Nava, Valerie A. Arboleda
Human Genetics (2023) Vol. 143, Iss. 4, pp. 475-495
Open Access | Times Cited: 14

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders
Thomas Husson, François Lecoquierre, Gaël Nicolas, et al.
European Journal of Human Genetics (2023) Vol. 32, Iss. 2, pp. 190-199
Open Access | Times Cited: 14

DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder
Kathleen Rooney, Liselot van der Laan, Slavica Trajkova, et al.
Genetics in Medicine (2023) Vol. 25, Iss. 8, pp. 100871-100871
Closed Access | Times Cited: 13

Complexity in Genetic Epilepsies: A Comprehensive Review
Cassandra Rastin, Laila C. Schenkel, Bekim Sadiković
International Journal of Molecular Sciences (2023) Vol. 24, Iss. 19, pp. 14606-14606
Open Access | Times Cited: 13

Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset
Nazanin Mirza‐Schreiber, Michael Zech, Rory Wilson, et al.
Brain (2021) Vol. 145, Iss. 2, pp. 644-654
Open Access | Times Cited: 32

The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8
Alexander J.M. Dingemans, Kim M. G. Truijen, Sam van de Ven, et al.
Translational Psychiatry (2022) Vol. 12, Iss. 1
Open Access | Times Cited: 21

SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile
Reem Al‐Jawahiri, Aidin Foroutan, Jennifer Kerkhof, et al.
Genetics in Medicine (2022) Vol. 24, Iss. 6, pp. 1261-1273
Open Access | Times Cited: 20

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