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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:

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders
Erfan Aref‐Eshghi, Jennifer Kerkhof, Victor P. Pedro, et al.
The American Journal of Human Genetics (2020) Vol. 106, Iss. 3, pp. 356-370
Open Access | Times Cited: 246

Showing 1-25 of 246 citing articles:

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
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
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
Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition
Mitchell R. Vollger, Jonas Korlach, Kiara C. Eldred, et al.
Nature Genetics (2025)
Closed Access | Times Cited: 8
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
Interplay between chromatin marks in development and disease
Sanne Janssen, Matthew C. Lorincz
Nature Reviews Genetics (2021) Vol. 23, Iss. 3, pp. 137-153
Closed Access | Times Cited: 101
Predisposition to cancer in children and adolescents
Christian P. Kratz, Marjolijn C.J. Jongmans, Hélène Cavé, et al.
The Lancet Child & Adolescent Health (2021) Vol. 5, Iss. 2, pp. 142-154
Closed Access | Times Cited: 92
The emerging role of chromatin remodelers in neurodevelopmental disorders: a developmental perspective
Britt Mossink, Moritz Negwer, Dirk Schubert, et al.
Cellular and Molecular Life Sciences (2020) Vol. 78, Iss. 6, pp. 2517-2563
Open Access | Times Cited: 79
Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder
Julien Van‐Gils, Frédérique Magdinier, Patricia Fergelot, et al.
Genes (2021) Vol. 12, Iss. 7, pp. 968-968
Open Access | Times Cited: 66
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females
Francesca Clementina Radio, Kaifang Pang, Andrea Ciolfi, et al.
The American Journal of Human Genetics (2021) Vol. 108, Iss. 3, pp. 502-516
Open Access | Times Cited: 64
Host methylation predicts SARS-CoV-2 infection and clinical outcome
Iain R. Konigsberg, Bret Barnes, Monica Campbell, et al.
Communications Medicine (2021) Vol. 1, Iss. 1
Open Access | Times Cited: 59
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
Single-cell Atlas of common variable immunodeficiency shows germinal center-associated epigenetic dysregulation in B-cell responses
Javier Rodríguez‐Ubreva, Anna Arutyunyan, Marc Jan Bonder, et al.
Nature Communications (2022) Vol. 13, Iss. 1
Open Access | Times Cited: 44
DNA methylation in newborns conceived by assisted reproductive technology
Siri E. Håberg, Christian M. Page, Yunsung Lee, et al.
Nature Communications (2022) Vol. 13, Iss. 1
Open Access | Times Cited: 44
Smith-Magenis Syndrome—Clinical Review, Biological Background and Related Disorders
Berardo Rinaldi, Roberta Villa, Alessandra Sironi, et al.
Genes (2022) Vol. 13, Iss. 2, pp. 335-335
Open Access | Times Cited: 42
Epigenetic genes and epilepsy — emerging mechanisms and clinical applications
Karen M. J. van Loo, Gemma L. Carvill, Albert J. Becker, et al.
Nature Reviews Neurology (2022) Vol. 18, Iss. 9, pp. 530-543
Open Access | Times Cited: 40
Epigenomic signatures reveal mechanistic clues and predictive markers for autism spectrum disorder
Janine M. LaSalle
Molecular Psychiatry (2023) Vol. 28, Iss. 5, pp. 1890-1901
Open Access | Times Cited: 35
Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders
Jordy Dekker, Rachel Schot, Michiel Bongaerts, et al.
The American Journal of Human Genetics (2023) Vol. 110, Iss. 2, pp. 251-272
Open Access | Times Cited: 28
Chromatin remodeler Activity-Dependent Neuroprotective Protein (ADNP) contributes to syndromic autism
Claudio Peter D’Incal, Kirsten Esther Van Rossem, Kevin De Man, et al.
Clinical Epigenetics (2023) Vol. 15, Iss. 1
Open Access | Times Cited: 23
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement
Didier Lacombe, Agnès Bloch‐Zupan, Cecilie Bredrup, et al.
Journal of Medical Genetics (2024) Vol. 61, Iss. 6, pp. 503-519
Open Access | Times Cited: 12
Next-generation sequencing and bioinformatics in rare movement disorders
Michael Zech, J C Winkelmann
Nature Reviews Neurology (2024) Vol. 20, Iss. 2, pp. 114-126
Closed Access | Times Cited: 10
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability
María del Rocío Pérez Baca, Eva Jacobs, Lies Vantomme, et al.
The American Journal of Human Genetics (2024) Vol. 111, Iss. 3, pp. 509-528
Open Access | Times Cited: 8
Long read sequencing enhances pathogenic and novel variation discovery in patients with rare diseases
Shruti Sinha, Fatma Rabea, Sathishkumar Ramaswamy, et al.
Nature Communications (2025) Vol. 16, Iss. 1
Open Access | Times Cited: 1
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome
Sarah E. Sheppard, Ian M. Campbell, Margaret Harr, et al.
American Journal of Medical Genetics Part A (2021) Vol. 185, Iss. 6, pp. 1649-1665
Open Access | Times Cited: 49
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