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:

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features
Paweł Stankiewicz, Tahir Naeem Khan, Przemysław Szafrański, et al.
The American Journal of Human Genetics (2017) Vol. 101, Iss. 4, pp. 503-515
Open Access | Times Cited: 82

Showing 1-25 of 82 citing articles:

Depression pathophysiology, risk prediction of recurrence and comorbid psychiatric disorders using genome-wide analyses
Thomas D. Als, Mitja Kurki, Jakob Grove, et al.
Nature Medicine (2023) Vol. 29, Iss. 7, pp. 1832-1844
Open Access | Times Cited: 166

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors
Tzung‐Chien Hsieh, Aviram Bar-Haim, Shahida Moosa, et al.
Nature Genetics (2022) Vol. 54, Iss. 3, pp. 349-357
Open Access | Times Cited: 138

Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications
Amy B. Wilfert, Arvis Sulovari, Tychele N. Turner, et al.
Genome Medicine (2017) Vol. 9, Iss. 1
Open Access | Times Cited: 131

Measuring intolerance to mutation in human genetics
Zachary L. Fuller, Jeremy J. Berg, Hakhamanesh Mostafavi, et al.
Nature Genetics (2019) Vol. 51, Iss. 5, pp. 772-776
Open Access | Times Cited: 123

Genomic and phenotypic delineation of congenital microcephaly
Ranad Shaheen, Sateesh Maddirevula, Nour Ewida, et al.
Genetics in Medicine (2018) Vol. 21, Iss. 3, pp. 545-552
Open Access | Times Cited: 109

Zebrafish as a Model of Neurodevelopmental Disorders
Murilo S. de Abreu, Rafael Genário, Ana C.V.V. Giacomini, et al.
Neuroscience (2019) Vol. 445, pp. 3-11
Open Access | Times Cited: 107

Modelling Autism Spectrum Disorder (ASD) and Attention-Deficit/Hyperactivity Disorder (ADHD) Using Mice and Zebrafish
Godfried Dougnon, Hideaki Matsui
International Journal of Molecular Sciences (2022) Vol. 23, Iss. 14, pp. 7550-7550
Open Access | Times Cited: 46

An integrative framework to prioritize genes in more than 500 loci associated with body mass index
Daiane Hemerich, Victor Svenstrup, Virginia Diez Obrero, et al.
The American Journal of Human Genetics (2024) Vol. 111, Iss. 6, pp. 1035-1046
Open Access | Times Cited: 10

Map2k6 is a potent genetic modifier of arterial rupture in vascular Ehlers-Danlos syndrome mice
Caitlin J. Bowen, Rebecca Sorber, Juan F. Calderón, et al.
JCI Insight (2025)
Open Access | Times Cited: 1

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia
Claire Guissart, Xénia Latypova, Paul Rollier, et al.
The American Journal of Human Genetics (2018) Vol. 102, Iss. 5, pp. 744-759
Open Access | Times Cited: 67

Enhancing the prediction of disease–gene associations with multimodal deep learning
Ping Luo, Yuanyuan Li, Li‐Ping Tian, et al.
Bioinformatics (2019) Vol. 35, Iss. 19, pp. 3735-3742
Closed Access | Times Cited: 56

The genomics of ecological flexibility, large brains, and long lives in capuchin monkeys revealed with fecalFACS
Joseph D. Orkin, Michael J. Montague, Daniela Tejada-Martínez, et al.
Proceedings of the National Academy of Sciences (2021) Vol. 118, Iss. 7
Open Access | Times Cited: 47

Identification of novel candidate disease genes from de novo exonic copy number variants
Tomasz Gambin, Bo Yuan, Weimin Bi, et al.
Genome Medicine (2017) Vol. 9, Iss. 1
Open Access | Times Cited: 54

A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants
Jianling Ji, Li Shen, Moiz Bootwalla, et al.
Molecular Case Studies (2019) Vol. 5, Iss. 2, pp. a003756-a003756
Open Access | Times Cited: 53

Long-Term Impact of Social Isolation and Molecular Underpinnings
Rodrigo G. Arzate‐Mejía, Zuzanna Lottenbach, Vincent Schindler, et al.
Frontiers in Genetics (2020) Vol. 11
Open Access | Times Cited: 48

Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy
Laura Grange, John J. Reynolds, Farid Ullah, et al.
Nature Communications (2022) Vol. 13, Iss. 1
Open Access | Times Cited: 25

CRISPR/Cas9 disease models in zebrafish and Xenopus: The genetic renaissance of fish and frogs
Thomas Naert, Kris Vleminckx
Drug Discovery Today Technologies (2018) Vol. 28, pp. 41-52
Open Access | Times Cited: 41

BPTF regulates growth of adult and pediatric high-grade glioma through the MYC pathway
Adam L. Green, John DeSisto, Patrick Flannery, et al.
Oncogene (2019) Vol. 39, Iss. 11, pp. 2305-2327
Open Access | Times Cited: 37

Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies
Tahir Naeem Khan, Kamal Khan, Azita Sadeghpour, et al.
The American Journal of Human Genetics (2019) Vol. 104, Iss. 1, pp. 94-111
Open Access | Times Cited: 36

The Chromatin Remodeler BPTF Activates a Stemness Gene-Expression Program Essential for the Maintenance of Adult Hematopoietic Stem Cells
Bowen Xu, Ling Cai, Jason M. Butler, et al.
Stem Cell Reports (2018) Vol. 10, Iss. 3, pp. 675-683
Open Access | Times Cited: 35

Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder
Xénia Latypova, Marie Vincent, Alice Mollé, et al.
The American Journal of Human Genetics (2021) Vol. 108, Iss. 5, pp. 929-941
Open Access | Times Cited: 26

Pathogenic variants inSMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features
Dong Li, Qin Wang, Naihua N. Gong, et al.
Science Advances (2021) Vol. 7, Iss. 20
Open Access | Times Cited: 25

Elucidating the Molecular Landscape of Cystic Kidney Disease: Old Friends, New Friends and Some Surprises
Deborah Watson, Frank Mentch, Jonathan Billings, et al.
American Journal of Medical Genetics Part A (2025)
Open Access

RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS
Avinash V. Dharmadhikari, Maria Alba Abad, Sheraz Khan, et al.
Nature Communications (2025) Vol. 16, Iss. 1
Open Access

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