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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:

High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency
Péter Gergics, Cathy Smith, Hironori Bando, et al.
The American Journal of Human Genetics (2021) Vol. 108, Iss. 8, pp. 1526-1539
Open Access | Times Cited: 31

Showing 1-25 of 31 citing articles:

Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup
Logan C. Walker, Miguel de la Hoya, George A. R. Wiggins, et al.
The American Journal of Human Genetics (2023) Vol. 110, Iss. 7, pp. 1046-1067
Open Access | Times Cited: 124
Scalable Functional Assays for the Interpretation of Human Genetic Variation
Daniel Tabet, Victoria N. Parikh, Prashant Mali, et al.
Annual Review of Genetics (2022) Vol. 56, Iss. 1, pp. 441-465
Closed Access | Times Cited: 48
Linking genome variants to disease: scalable approaches to test the functional impact of human mutations
Gregory M. Findlay
Human Molecular Genetics (2021) Vol. 30, Iss. R2, pp. R187-R197
Open Access | Times Cited: 44
Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome
Anthony Scott, Felicia Hernandez, Adam Chamberlin, et al.
Genome biology (2022) Vol. 23, Iss. 1
Open Access | Times Cited: 26
Benchmarking splice variant prediction algorithms using massively parallel splicing assays
Cathy Smith, Jacob O. Kitzman
Genome biology (2023) Vol. 24, Iss. 1
Open Access | Times Cited: 11
Exome Sequencing Has a High Diagnostic Rate in Sporadic Congenital Hypopituitarism and Reveals Novel Candidate Genes
Julian Martinez-Mayer, Sebastián Vishnopolska, Catalina Perticarari, et al.
The Journal of Clinical Endocrinology & Metabolism (2024) Vol. 109, Iss. 12, pp. 3196-3210
Open Access | Times Cited: 4
Knockout mice with pituitary malformations help identify human cases of hypopituitarism
Julian Martinez-Mayer, Michelle L. Brinkmeier, Sean P. O’Connell, et al.
Genome Medicine (2024) Vol. 16, Iss. 1
Open Access | Times Cited: 4
APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP
Logan C. Walker, Miguel de la Hoya, George A. R. Wiggins, et al.
medRxiv (Cold Spring Harbor Laboratory) (2023)
Open Access | Times Cited: 10
High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies
Lucia Sentchordi, Sara Benito‐Sanz, Miriam Aza‐Carmona, et al.
European Journal of Endocrinology (2021) Vol. 185, Iss. 5, pp. 691-705
Open Access | Times Cited: 18
Functional Assays Reclassify Suspected Splice-Altering Variants of Uncertain Significance in Mendelian Channelopathies
Matthew J. O’Neill, Yuko Wada, Lynn Hall, et al.
Circulation Genomic and Precision Medicine (2022) Vol. 15, Iss. 6
Open Access | Times Cited: 11
Functional characterization of 2,832 JAG1 variants supports reclassification for Alagille syndrome and improves guidance for clinical variant interpretation
Melissa A. Gilbert, Ernest Keefer-Jacques, Tanaya Jadhav, et al.
The American Journal of Human Genetics (2024) Vol. 111, Iss. 8, pp. 1656-1672
Open Access | Times Cited: 2
From computational models of the splicing code to regulatory mechanisms and therapeutic implications
Charlotte Capitanchik, Oscar G. Wilkins, Nils Wagner, et al.
Nature Reviews Genetics (2024)
Closed Access | Times Cited: 2
Novel genes and variants associated with congenital pituitary hormone deficiency in the era of next-generation sequencing
Hironori Bando, Shin Urai, Keitaro Kanie, et al.
Frontiers in Endocrinology (2022) Vol. 13
Open Access | Times Cited: 10
Diagnosing and treating anterior pituitary hormone deficiency in pediatric patients
Rodolfo A. Rey, Ignacio Bergadá, Marı́a Gabriela Ballerini, et al.
Reviews in Endocrine and Metabolic Disorders (2023) Vol. 25, Iss. 3, pp. 555-573
Closed Access | Times Cited: 6
High-Throughput Splicing Assays Identify Known and Novel WT1 Exon 9 Variants in Nephrotic Syndrome
Cathy Smith, Bala Bharathi Burugula, Ian Dunn, et al.
Kidney International Reports (2023) Vol. 8, Iss. 10, pp. 2117-2125
Open Access | Times Cited: 5
Silent but Not Harmless: A Synonymous SLC5A5 Gene Variant Leading to Dyshormonogenic Congenital Hypothyroidism
Romina C. Geysels, Carlos Eduardo Bernal Barquero, Mariano Martín, et al.
Frontiers in Endocrinology (2022) Vol. 13
Open Access | Times Cited: 8
Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders
Kuokuo Li, Jifang Xiao, Zhengbao Ling, et al.
EBioMedicine (2023) Vol. 99, pp. 104928-104928
Open Access | Times Cited: 4
Common and Uncommon Mouse Models of Growth Hormone Deficiency
Edward O. List, Reetobrata Basu, Darlene E. Berryman, et al.
Endocrine Reviews (2024)
Open Access | Times Cited: 1
ParSE-seq: a calibrated multiplexed assay to facilitate the clinical classification of putative splice-altering variants
Matthew J. O’Neill, Tao Yang, Julie Laudeman, et al.
Nature Communications (2024) Vol. 15, Iss. 1
Open Access | Times Cited: 1
Genetic Disorders of the Pituitary Gland
Reed E. Pyeritz
Elsevier eBooks (2024), pp. 455-493
Closed Access | Times Cited: 1
Performance evaluation of computational methods for splice-disrupting variants and improving the performance using the machine learning-based framework
Hao Liu, Jiaqi Dai, Ke Li, et al.
Briefings in Bioinformatics (2022) Vol. 23, Iss. 5
Closed Access | Times Cited: 7
Current and Future Approaches to Classify VUSs in LGMD-Related Genes
Chengcheng Li, Gabe Haller, Conrad C. Weihl
Genes (2022) Vol. 13, Iss. 2, pp. 382-382
Open Access | Times Cited: 6
Heterozygous variants in SIX3 and POU1F1 cause pituitary hormone deficiency in mouse and man
Hironori Bando, Michelle L. Brinkmeier, Frederic Castinetti, et al.
Human Molecular Genetics (2022) Vol. 32, Iss. 3, pp. 367-385
Open Access | Times Cited: 6
The CDH1 c.1901C>T Variant: A Founder Variant in the Portuguese Population with Severe Impact in mRNA Splicing
Rita Barbosa‐Matos, Rafaela L. Silva, Luzia Garrido, et al.
Cancers (2021) Vol. 13, Iss. 17, pp. 4464-4464
Open Access | Times Cited: 8
POU1F1/Pou1f1 c.143-83A > G Variant Disrupts the Branch Site in Pre-mRNA and Leads to Dwarfism
Kazuhisa Akiba, Yukihiro Hasegawa, Yûkô Fukui, et al.
Endocrinology (2022) Vol. 164, Iss. 2
Open Access | Times Cited: 5
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