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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:

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

Showing 1-25 of 64 citing articles:

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
SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype
Marialetizia Motta, Giulia Fasano, Sina Gredy, et al.
The American Journal of Human Genetics (2021) Vol. 108, Iss. 11, pp. 2112-2129
Open Access | Times Cited: 57
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
Deleterious coding variation associated with autism is consistent across populations, as exemplified by admixed Latin American populations
Marina Natividad Avila, Seulgi Jung, F. Kyle Satterstrom, et al.
medRxiv (Cold Spring Harbor Laboratory) (2025)
Open Access | Times Cited: 1
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
'Fly-ing' from rare to common neurodegenerative disease mechanisms
Mengqi Ma, Matthew J. Moulton, Shenzhao Lu, et al.
Trends in Genetics (2022) Vol. 38, Iss. 9, pp. 972-984
Open Access | Times Cited: 24
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
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy
Melanie Brugger, Antonella Lauri, Zhen Yan, et al.
The American Journal of Human Genetics (2024) Vol. 111, Iss. 3, pp. 594-613
Open Access | Times Cited: 5
SPEN is required for Xist upregulation during initiation of X chromosome inactivation
Teresa Robert-Finestra, Beatrice Tan, Hegias Mira-Bontenbal, et al.
Nature Communications (2021) Vol. 12, Iss. 1
Open Access | Times Cited: 29
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay
Go Hun Seo, Hane Lee, Jungsul Lee, et al.
Molecular Medicine (2022) Vol. 28, Iss. 1
Open Access | Times Cited: 21
A gene-to-patient approach uplifts novel disease gene discovery and identifies 18 putative novel disease genes
Eleanor G. Seaby, Damian Smedley, Ana Lisa Taylor Tavares, et al.
Genetics in Medicine (2022) Vol. 24, Iss. 8, pp. 1697-1707
Open Access | Times Cited: 21
1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients
Clémence Jacquin, Emilie Landais, Céline Poirsier, et al.
American Journal of Medical Genetics Part A (2022) Vol. 191, Iss. 2, pp. 445-458
Open Access | Times Cited: 19
Integrative omics approaches to advance rare disease diagnostics
Dmitrii Smirnov, Nikita Konstantinovskiy, Holger Prokisch
Journal of Inherited Metabolic Disease (2023) Vol. 46, Iss. 5, pp. 824-838
Open Access | Times Cited: 11
Matching Heterogeneous Cohorts by Projected Principal Components Reveals Two Novel Alzheimer's Disease-Associated Genes in the Hispanic Population
Julian Daniel Sunday Willett, Kristina Mullin, Rudolph E. Tanzi, et al.
medRxiv (Cold Spring Harbor Laboratory) (2025)
Open Access
The Arg99Gln Substitution in HNRNPC Is Associated with a Distinctive Clinical Phenotype Characterized by Facial Dysmorphism and Ocular and Cochlear Anomalies
Luigi Chiriatti, Manuela Priolo, Roberta Onesimo, et al.
Genes (2025) Vol. 16, Iss. 2, pp. 176-176
Open Access
Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy
Daniel Greene, Koenraad De Wispelaere, Jonathan Lees, et al.
Nature Genetics (2025)
Open Access
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy
Ilaria Parenti, Daphné Lehalle, Caroline Nava, et al.
Human Genetics (2021) Vol. 140, Iss. 7, pp. 1109-1120
Open Access | Times Cited: 25
Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile
Andrea Ciolfi, Aidin Foroutan, Alessandro Capuano, et al.
Clinical Epigenetics (2021) Vol. 13, Iss. 1
Open Access | Times Cited: 25
Identification of a DNA Methylation Episignature in the 22q11.2 Deletion Syndrome
Kathleen Rooney, Michael A. Levy, Sadegheh Haghshenas, et al.
International Journal of Molecular Sciences (2021) Vol. 22, Iss. 16, pp. 8611-8611
Open Access | Times Cited: 24
Male breast cancer risk associated with pathogenic variants in genes other than BRCA1/2: an Italian case-control study
Agostino Bucalo, Giulia Conti, Virginia Valentini, et al.
European Journal of Cancer (2023) Vol. 188, pp. 183-191
Open Access | Times Cited: 10
De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity
Marine Tessarech, Gaëlle Friocourt, Florent Marguet, et al.
Genetics in Medicine (2024) Vol. 26, Iss. 5, pp. 101087-101087
Open Access | Times Cited: 3
O-GlcNAc Transferase Congenital Disorder of Glycosylation (OGT-CDG): Potential mechanistic targets revealed by evaluating the OGT interactome
Johnathan M. Mayfield, Naomi L. Hitefield, Ignacy Czajewski, et al.
Journal of Biological Chemistry (2024) Vol. 300, Iss. 9, pp. 107599-107599
Open Access | Times Cited: 3
Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function
Giovanna Carpentieri, Serena Cecchetti, Gianfranco Bocchinfuso, et al.
Human Genetics and Genomics Advances (2024) Vol. 5, Iss. 4, pp. 100349-100349
Open Access | Times Cited: 3
Mutations in the U2 snRNA geneRNU2-2Pcause a severe neurodevelopmental disorder with prominent epilepsy
Daniel Greene, Koenraad De Wispelaere, Jonathan Lees, et al.
medRxiv (Cold Spring Harbor Laboratory) (2024)
Closed Access | Times Cited: 3
Expanding the molecular spectrum of pathogenicSHOC2variants underlying Mazzanti syndrome
Marialetizia Motta, Maja Šolman, Adeline Bonnard, et al.
Human Molecular Genetics (2022) Vol. 31, Iss. 16, pp. 2766-2778
Open Access | Times Cited: 15
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