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:

Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome
Eric G. Bend, Erfan Aref‐Eshghi, David B. Everman, et al.
Clinical Epigenetics (2019) Vol. 11, Iss. 1
Open Access | Times Cited: 89

Showing 1-25 of 89 citing articles:

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

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

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

Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency
David B. Beck, Ana Petracovici, Chongsheng He, et al.
The American Journal of Human Genetics (2020) Vol. 106, Iss. 2, pp. 234-245
Open Access | Times Cited: 94

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

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

The Genetics of Intellectual Disability
Sandra Jansen, Lisenka E.L.M. Vissers, Bert B.A. de Vries
Brain Sciences (2023) Vol. 13, Iss. 2, pp. 231-231
Open Access | Times Cited: 35

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: 24

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

The Promises and Challenges of Toxico-Epigenomics: Environmental Chemicals and Their Impacts on the Epigenome
Felicia Fei‐Lei Chung, Zdenko Herceg
Environmental Health Perspectives (2020) Vol. 128, Iss. 1
Open Access | Times Cited: 68

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature
Dmitrijs Rots, Eric Chater‐Diehl, Alexander J.M. Dingemans, et al.
The American Journal of Human Genetics (2021) Vol. 108, Iss. 6, pp. 1053-1068
Open Access | Times Cited: 48

Anatomy of DNA methylation signatures: Emerging insights and applications
Eric Chater‐Diehl, Sarah J. Goodman, Cheryl Cytrynbaum, et al.
The American Journal of Human Genetics (2021) Vol. 108, Iss. 8, pp. 1359-1366
Open Access | Times Cited: 45

Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature
Andrea Ciolfi, Erfan Aref‐Eshghi, Simone Pizzi, et al.
Clinical Epigenetics (2020) Vol. 12, Iss. 1
Open Access | Times Cited: 45

Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype
Michael S. Breen, Paras Garg, Lara Tang, et al.
The American Journal of Human Genetics (2020) Vol. 107, Iss. 3, pp. 555-563
Open Access | Times Cited: 42

A novel davunetide (NAPVSIPQQ to NAPVSIPQE) point mutation in activity‐dependent neuroprotective protein (ADNP) causes a mild developmental syndrome
Illana Gozes, Shula Shazman
European Journal of Neuroscience (2023) Vol. 58, Iss. 2, pp. 2641-2652
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

DNA Methylation in the Diagnosis of Monogenic Diseases
Flavia Cerrato, Angela Sparago, Francesca Ariani, et al.
Genes (2020) Vol. 11, Iss. 4, pp. 355-355
Open Access | Times Cited: 34

Functional annotation of genomic variation: DNA methylation episignatures in neurodevelopmental Mendelian disorders
Bekim Sadiković, Michael A. Levy, Erfan Aref‐Eshghi
Human Molecular Genetics (2020) Vol. 29, Iss. R1, pp. R27-R32
Open Access | Times Cited: 33

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

Artificial Intelligence in Epigenetic Studies: Shedding Light on Rare Diseases
Sandra Brasil, Cátia J. Neves, Tatiana Rijoff, et al.
Frontiers in Molecular Biosciences (2021) Vol. 8
Open Access | Times Cited: 29

Distinct Impairments Characterizing Different ADNP Mutants Reveal Aberrant Cytoplasmic-Nuclear Crosstalk
Maram Ganaiem, Gidon Karmon, Yanina Ivashko‐Pachima, et al.
Cells (2022) Vol. 11, Iss. 19, pp. 2994-2994
Open Access | Times Cited: 19

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome
Sanaa Choufani, Vanda McNiven, Cheryl Cytrynbaum, et al.
The American Journal of Human Genetics (2022) Vol. 109, Iss. 10, pp. 1867-1884
Open Access | Times Cited: 19

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