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:

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients
Henrik Stranneheim, Kristina Lagerstedt‐Robinson, Måns Magnusson, et al.
Genome Medicine (2021) Vol. 13, Iss. 1
Open Access | Times Cited: 199

Showing 1-25 of 199 citing articles:

Genomic newborn screening for rare diseases
Zornitza Stark, Richard H. Scott
Nature Reviews Genetics (2023) Vol. 24, Iss. 11, pp. 755-766
Closed Access | Times Cited: 98

Integrated multi-omics for rapid rare disease diagnosis on a national scale
Sebastian Lunke, Sophie E. Bouffler, Chirag Patel, et al.
Nature Medicine (2023) Vol. 29, Iss. 7, pp. 1681-1691
Open Access | Times Cited: 79

Whole genome sequencing in clinical practice
Frederik Otzen Bagger, Line Borgwardt, Andreas Sand Jespersen, et al.
BMC Medical Genomics (2024) Vol. 17, Iss. 1
Open Access | Times Cited: 44

Sequencing and characterizing short tandem repeats in the human genome
Hope A. Tanudisastro, Ira W. Deveson, Harriet Dashnow, et al.
Nature Reviews Genetics (2024) Vol. 25, Iss. 7, pp. 460-475
Closed Access | Times Cited: 42

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: 30

Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study
Katherine Schon, Rita Horváth, Wei Wei, et al.
BMJ (2021), pp. e066288-e066288
Open Access | Times Cited: 73

Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes
Ana S.A. Cohen, Emily Farrow, Ahmed Abdelmoity, et al.
Genetics in Medicine (2022) Vol. 24, Iss. 6, pp. 1336-1348
Open Access | Times Cited: 69

The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases
Steven Laurie, Davide Piscia, Leslie Matalonga, et al.
Human Mutation (2022)
Open Access | Times Cited: 48

Characterization of genome-wide STR variation in 6487 human genomes
Yirong Shi, Yiwei Niu, Peng Zhang, et al.
Nature Communications (2023) Vol. 14, Iss. 1
Open Access | Times Cited: 41

Meta-analysis of the diagnostic and clinical utility of exome and genome sequencing in pediatric and adult patients with rare diseases across diverse populations
Claudia Ching Yan Chung, Shirley P.Y. Hue, Nicole Y.T. Ng, et al.
Genetics in Medicine (2023) Vol. 25, Iss. 9, pp. 100896-100896
Open Access | Times Cited: 41

Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency
Tessa M. Campbell, Zhiyong Liu, Qian Zhang, et al.
The Journal of Experimental Medicine (2022) Vol. 219, Iss. 7
Open Access | Times Cited: 40

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases
Alistair T. Pagnamenta, Carlos Camps, Edoardo Giacopuzzi, et al.
Genome Medicine (2023) Vol. 15, Iss. 1
Open Access | Times Cited: 32

A genome-wide spectrum of tandem repeat expansions in 338,963 humans
Ya Cui, Wenbin Ye, Jason Sheng Li, et al.
Cell (2024) Vol. 187, Iss. 9, pp. 2336-2341.e5
Open Access | Times Cited: 16

Genome sequencing as a generic diagnostic strategy for rare disease
Gaby Schobers, Ronny Derks, Amber den Ouden, et al.
Genome Medicine (2024) Vol. 16, Iss. 1
Open Access | Times Cited: 11

Spatially resolved transcriptomics reveals gene expression characteristics in uveal melanoma
Jingying Xiu, Yuning Chen, Yingwei Mao, et al.
Holistic Integrative Oncology (2025) Vol. 4, Iss. 1
Open Access | Times Cited: 1

A de novo, mosaic and complex chromosome 21 rearrangement causes APP triplication and familial autosomal dominant early onset Alzheimer disease
Emma Ehn, Jesper Eisfeldt, José Miguel Laffita‐Mesa, et al.
Scientific Reports (2025) Vol. 15, Iss. 1
Open Access | Times Cited: 1

Implementing precision medicine in a regionally organized healthcare system in Sweden
Thoas Fioretos, Valtteri Wirta, Lucia Cavelier, et al.
Nature Medicine (2022) Vol. 28, Iss. 10, pp. 1980-1982
Open Access | Times Cited: 31

The cost-effectiveness of whole genome sequencing in neurodevelopmental disorders
Hannes Runheim, Maria Pettersson, Anna Hammarsjö, et al.
Scientific Reports (2023) Vol. 13, Iss. 1
Open Access | Times Cited: 21

Sequential sequencing by synthesis and the next-generation sequencing revolution
Mathias Uhlén, Stephen R. Quake
Trends in biotechnology (2023) Vol. 41, Iss. 12, pp. 1565-1572
Open Access | Times Cited: 21

Structural insight into the intraflagellar transport complex IFT-A and its assembly in the anterograde IFT train
Yuanyuan Ma, Jun He, Shaobai Li, et al.
Nature Communications (2023) Vol. 14, Iss. 1
Open Access | Times Cited: 18

Precision medicine in rare diseases: What is next?
Bianca Tesi, Cathérine Boileau, Kym M. Boycott, et al.
Journal of Internal Medicine (2023) Vol. 294, Iss. 4, pp. 397-412
Open Access | Times Cited: 18

Whole‐genome sequencing in prenatally detected congenital malformations: prospective cohort study in clinical setting
E. Westenius, Peter Conner, Maria Pettersson, et al.
Ultrasound in Obstetrics and Gynecology (2024) Vol. 63, Iss. 5, pp. 658-663
Open Access | Times Cited: 8

The impact of genomics on precision public health: beyond the pandemic
Muin J. Khoury, Kathryn E. Holt
Genome Medicine (2021) Vol. 13, Iss. 1
Open Access | Times Cited: 33

Time to make rare disease diagnosis accessible to all
Heidi L. Rehm
Nature Medicine (2022) Vol. 28, Iss. 2, pp. 241-242
Open Access | Times Cited: 25

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