
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:
The Joubert–Meckel–Nephronophthisis Spectrum of Ciliopathies
Julie C. Van De Weghe, Arianna Gómez, Dan Doherty
Annual Review of Genomics and Human Genetics (2022) Vol. 23, Iss. 1, pp. 301-329
Open Access | Times Cited: 35
Julie C. Van De Weghe, Arianna Gómez, Dan Doherty
Annual Review of Genomics and Human Genetics (2022) Vol. 23, Iss. 1, pp. 301-329
Open Access | Times Cited: 35
Showing 1-25 of 35 citing articles:
Primary cilia as dynamic and diverse signalling hubs in development and disease
Pleasantine Mill, Søren T. Christensen, Lotte B. Pedersen
Nature Reviews Genetics (2023) Vol. 24, Iss. 7, pp. 421-441
Open Access | Times Cited: 180
Pleasantine Mill, Søren T. Christensen, Lotte B. Pedersen
Nature Reviews Genetics (2023) Vol. 24, Iss. 7, pp. 421-441
Open Access | Times Cited: 180
Seriously cilia: A tiny organelle illuminates evolution, disease, and intercellular communication
Camille Derderian, Gabriela Canales, Jeremy F. Reiter
Developmental Cell (2023) Vol. 58, Iss. 15, pp. 1333-1349
Open Access | Times Cited: 31
Camille Derderian, Gabriela Canales, Jeremy F. Reiter
Developmental Cell (2023) Vol. 58, Iss. 15, pp. 1333-1349
Open Access | Times Cited: 31
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation
Andrea Accogli, Saurabh Shakya, Taewoo Yang, et al.
Nature Communications (2024) Vol. 15, Iss. 1
Open Access | Times Cited: 5
Andrea Accogli, Saurabh Shakya, Taewoo Yang, et al.
Nature Communications (2024) Vol. 15, Iss. 1
Open Access | Times Cited: 5
Joubert syndrome-derived induced pluripotent stem cells show altered neuronal differentiation in vitro
Roberta De Mori, Silvia Tardivo, Lidia Pollara, et al.
Cell and Tissue Research (2024) Vol. 396, Iss. 2, pp. 255-267
Open Access | Times Cited: 5
Roberta De Mori, Silvia Tardivo, Lidia Pollara, et al.
Cell and Tissue Research (2024) Vol. 396, Iss. 2, pp. 255-267
Open Access | Times Cited: 5
Primary cilia and actin regulatory pathways in renal ciliopathies
Rita K. Kalot, Zachary T Sentell, Thomas M. Kitzler, et al.
Frontiers in Nephrology (2024) Vol. 3
Open Access | Times Cited: 4
Rita K. Kalot, Zachary T Sentell, Thomas M. Kitzler, et al.
Frontiers in Nephrology (2024) Vol. 3
Open Access | Times Cited: 4
Ciliopathy-associated protein, CEP290, is required for ciliary necklace and outer segment membrane formation in retinal photoreceptors.
Abigail R. Moye, Michael A. Robichaux, Melina A. Agosto, et al.
bioRxiv (Cold Spring Harbor Laboratory) (2025)
Open Access
Abigail R. Moye, Michael A. Robichaux, Melina A. Agosto, et al.
bioRxiv (Cold Spring Harbor Laboratory) (2025)
Open Access
Novel therapeutic insights into pathological cardiac hypertrophy: tRF-16-R29P4PE regulates PACE4 and metabolic pathways
Feng Wang, Ping Li, Xinxin Yan, et al.
Biochimica et Biophysica Acta (BBA) - Molecular Cell Research (2025), pp. 119920-119920
Closed Access
Feng Wang, Ping Li, Xinxin Yan, et al.
Biochimica et Biophysica Acta (BBA) - Molecular Cell Research (2025), pp. 119920-119920
Closed Access
Unveiling the Pathogenic Role of Novel CPLANE1 Compound Heterozygous Variants in Joubert Syndrome: Insights Into mRNA Stability and NMD Pathway
Zhidan Hong, Sheng Xiang, Zhiying Chen, et al.
Journal of Cellular and Molecular Medicine (2025) Vol. 29, Iss. 5
Open Access
Zhidan Hong, Sheng Xiang, Zhiying Chen, et al.
Journal of Cellular and Molecular Medicine (2025) Vol. 29, Iss. 5
Open Access
NEK8, a NIMA-family protein kinase at the core of the ciliary INV complex
Joan Roig
Cell Communication and Signaling (2025) Vol. 23, Iss. 1
Open Access
Joan Roig
Cell Communication and Signaling (2025) Vol. 23, Iss. 1
Open Access
SOX9-dependent fibrosis drives renal function in nephronophthisis
Maulin M. Patel, Vasileios Gerakopoulos, Bryan Lettenmaier, et al.
EMBO Molecular Medicine (2025)
Open Access
Maulin M. Patel, Vasileios Gerakopoulos, Bryan Lettenmaier, et al.
EMBO Molecular Medicine (2025)
Open Access
Novel compound heterozygous variants in ARL13B lead to Joubert syndrome
Zaisheng Lin, Yue Shen, Yan Li, et al.
Journal of Cellular Physiology (2024) Vol. 239, Iss. 4
Closed Access | Times Cited: 2
Zaisheng Lin, Yue Shen, Yan Li, et al.
Journal of Cellular Physiology (2024) Vol. 239, Iss. 4
Closed Access | Times Cited: 2
Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression
Samantha Malka, Pooja Biswas, Anne-Marie Berry, et al.
The American Journal of Human Genetics (2024) Vol. 111, Iss. 9, pp. 2012-2030
Open Access | Times Cited: 2
Samantha Malka, Pooja Biswas, Anne-Marie Berry, et al.
The American Journal of Human Genetics (2024) Vol. 111, Iss. 9, pp. 2012-2030
Open Access | Times Cited: 2
Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome
Fulvio D’Abrusco, Valentina Serpieri, Cecilia Maria Taccagni, et al.
European Journal of Human Genetics (2024)
Open Access | Times Cited: 2
Fulvio D’Abrusco, Valentina Serpieri, Cecilia Maria Taccagni, et al.
European Journal of Human Genetics (2024)
Open Access | Times Cited: 2
Comparative analysis of transcriptional changes in zebrafish cep290 and bbs2 mutants by RNA-seq reveals upregulation of inflammatory and stress-related pathways
Sarah E. Grabinski, Dhwani Parsana, Brian D. Perkins
Frontiers in Molecular Neuroscience (2023) Vol. 16
Open Access | Times Cited: 6
Sarah E. Grabinski, Dhwani Parsana, Brian D. Perkins
Frontiers in Molecular Neuroscience (2023) Vol. 16
Open Access | Times Cited: 6
A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome
Takuya Hiraide, Kenji Shimizu, Yoshinori Okumura, et al.
Journal of Human Genetics (2023) Vol. 68, Iss. 7, pp. 499-505
Closed Access | Times Cited: 5
Takuya Hiraide, Kenji Shimizu, Yoshinori Okumura, et al.
Journal of Human Genetics (2023) Vol. 68, Iss. 7, pp. 499-505
Closed Access | Times Cited: 5
Renal Pathology of Ciliopathies
Thivya Sekar, Neil J. Sebire
Pediatric and Developmental Pathology (2024) Vol. 27, Iss. 5, pp. 411-425
Closed Access | Times Cited: 1
Thivya Sekar, Neil J. Sebire
Pediatric and Developmental Pathology (2024) Vol. 27, Iss. 5, pp. 411-425
Closed Access | Times Cited: 1
Defects in diffusion barrier function of ciliary transition zone caused by ciliopathy variations of TMEM218
Taiju Fujii, Luxiaoxue Liang, Kazuhisa Nakayama, et al.
Human Molecular Genetics (2024) Vol. 33, Iss. 16, pp. 1442-1453
Closed Access | Times Cited: 1
Taiju Fujii, Luxiaoxue Liang, Kazuhisa Nakayama, et al.
Human Molecular Genetics (2024) Vol. 33, Iss. 16, pp. 1442-1453
Closed Access | Times Cited: 1
Arl2 GTPase associates with the centrosomal protein Cdk5rap2 to regulate cortical development via microtubule organization
Dongliang Ma, Kun‐Yang Lin, Divya Suresh, et al.
PLoS Biology (2024) Vol. 22, Iss. 8, pp. e3002751-e3002751
Open Access | Times Cited: 1
Dongliang Ma, Kun‐Yang Lin, Divya Suresh, et al.
PLoS Biology (2024) Vol. 22, Iss. 8, pp. e3002751-e3002751
Open Access | Times Cited: 1
Regulation of the Cilia as a Potential Treatment for Senescence and Tumors: A Review
Danping Zhu, Yuqin Pan, Yong Yang, et al.
Journal of Cellular Physiology (2024)
Closed Access | Times Cited: 1
Danping Zhu, Yuqin Pan, Yong Yang, et al.
Journal of Cellular Physiology (2024)
Closed Access | Times Cited: 1
The primary cilium gene CPLANE1 is required for peripheral nervous system development
Elkhan Yusifov, Martina Schaettin, Alexandre Dumoulin, et al.
Developmental Biology (2024)
Open Access | Times Cited: 1
Elkhan Yusifov, Martina Schaettin, Alexandre Dumoulin, et al.
Developmental Biology (2024)
Open Access | Times Cited: 1
Functions of the primary cilium in the kidney and its connection with renal diseases
Kelsey R. Clearman, Courtney J. Haycraft, Mandy J. Croyle, et al.
Current topics in developmental biology/Current Topics in Developmental Biology (2023), pp. 39-94
Closed Access | Times Cited: 3
Kelsey R. Clearman, Courtney J. Haycraft, Mandy J. Croyle, et al.
Current topics in developmental biology/Current Topics in Developmental Biology (2023), pp. 39-94
Closed Access | Times Cited: 3
Novel variants identified in five Chinese families with Joubert Syndrome: a case report
Liwei Fang, Lulu Wang, Yang Li, et al.
BMC Medical Genomics (2023) Vol. 16, Iss. 1
Open Access | Times Cited: 3
Liwei Fang, Lulu Wang, Yang Li, et al.
BMC Medical Genomics (2023) Vol. 16, Iss. 1
Open Access | Times Cited: 3
TTBK2mutations associated with spinocerebellar ataxia type 11 disrupt peroxisome dynamics and ciliary localization of SHH signaling proteins
Jesús Muñoz‐Estrada, Abraham Nguyen, Sarah C. Goetz
bioRxiv (Cold Spring Harbor Laboratory) (2023)
Open Access | Times Cited: 2
Jesús Muñoz‐Estrada, Abraham Nguyen, Sarah C. Goetz
bioRxiv (Cold Spring Harbor Laboratory) (2023)
Open Access | Times Cited: 2
Brain development mutations in the β-tubulin TUBB result in defective ciliogenesis
Antonio Mollica, Safia Omer, Sonia L. Evagelou, et al.
medRxiv (Cold Spring Harbor Laboratory) (2023)
Open Access | Times Cited: 2
Antonio Mollica, Safia Omer, Sonia L. Evagelou, et al.
medRxiv (Cold Spring Harbor Laboratory) (2023)
Open Access | Times Cited: 2
Arl2 Associates with Cdk5rap2 to Regulate Cortical Development via Microtubule Organization
Dongliang Ma, Kun‐Yang Lin, Suresh Divya, et al.
bioRxiv (Cold Spring Harbor Laboratory) (2024)
Open Access
Dongliang Ma, Kun‐Yang Lin, Suresh Divya, et al.
bioRxiv (Cold Spring Harbor Laboratory) (2024)
Open Access