Open Access Helper

OpenAlex Citation Counts

OpenAlex Citations Logo

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:

Biallelic Mutations in TBCD , Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy
Elisabetta Flex, Marcello Niceta, Serena Cecchetti, et al.
The American Journal of Human Genetics (2016) Vol. 99, Iss. 4, pp. 962-973
Open Access | Times Cited: 70

Showing 1-25 of 70 citing articles:

A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function
Michael T. Lam, Simona Coppola, Oliver H.F. Krumbach, et al.
The Journal of Experimental Medicine (2019) Vol. 216, Iss. 12, pp. 2778-2799
Open Access | Times Cited: 170
Mapping the molecular and cellular complexity of cortical malformations
Esther Klingler, Fiona Francis, Denis Jabaudon, et al.
Science (2021) Vol. 371, Iss. 6527
Open Access | Times Cited: 94
Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome
Christiane K. Bauer, Paolo Calligari, Francesca Clementina Radio, et al.
The American Journal of Human Genetics (2018) Vol. 103, Iss. 4, pp. 621-630
Open Access | Times Cited: 84
Cryo-ET suggests tubulin chaperones form a subset of microtubule lumenal particles with a role in maintaining neuronal microtubules
Saikat Chakraborty, Antonio Martínez-Sánchez, Florian Beck, et al.
Proceedings of the National Academy of Sciences (2025) Vol. 122, Iss. 5
Open Access | Times Cited: 1
PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment
Massimo Zollo, Momin Ahmed, Veronica Ferrucci, et al.
Brain (2017) Vol. 140, Iss. 4, pp. 940-952
Open Access | Times Cited: 70
“Ears of the Lynx” MRI Sign Is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia
Belén Pascual, Susanne T. de Bot, Michlene Daniels, et al.
American Journal of Neuroradiology (2019) Vol. 40, Iss. 1, pp. 199-203
Open Access | Times Cited: 67
Infant mortality: the contribution of genetic disorders
Monica H. Wojcik, Talia S. Schwartz, Katri Thiele, et al.
Journal of Perinatology (2019) Vol. 39, Iss. 12, pp. 1611-1619
Open Access | Times Cited: 64
SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling
Yuh‐Charn Lin, Marcello Niceta, Valentina Muto, et al.
The American Journal of Human Genetics (2020) Vol. 108, Iss. 1, pp. 115-133
Open Access | Times Cited: 53
Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations
Alessia Nasca, Teresa Rizza, Mara Doimo, et al.
Orphanet Journal of Rare Diseases (2017) Vol. 12, Iss. 1
Open Access | Times Cited: 53
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging
Elisabetta Flex, Simone Martinelli, Anke Van Dijck, et al.
The American Journal of Human Genetics (2019) Vol. 105, Iss. 3, pp. 493-508
Open Access | Times Cited: 53
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
Holger Hengel, Célia Bosso-Lefèvre, George Grady, et al.
Nature Communications (2020) Vol. 11, Iss. 1
Open Access | Times Cited: 45
A Trimer Consisting of the Tubulin-specific Chaperone D (TBCD), Regulatory GTPase ARL2, and β-Tubulin Is Required for Maintaining the Microtubule Network
Joshua W. Francis, Laura Newman, Leslie A. Cunningham, et al.
Journal of Biological Chemistry (2017) Vol. 292, Iss. 10, pp. 4336-4349
Open Access | Times Cited: 45
Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration
Valentina Muto, Elisabetta Flex, Zachary A Kupchinsky, et al.
Neurology (2018) Vol. 91, Iss. 4
Open Access | Times Cited: 44
Neuronal migration and disorders – an update
Fiona Francis, Silvia Cappello
Current Opinion in Neurobiology (2020) Vol. 66, pp. 57-68
Open Access | Times Cited: 34
Phenotypic variability in progressive encephalopathy with brain atrophy and thin corpus callosum: insights from two families
Büşra Aynekin, Sinan Akbaş, Ayten Güleç, et al.
Neurogenetics (2025) Vol. 26, Iss. 1
Closed Access
The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders
Vincenzo Salpietro, Massimo Zollo, Jana Vandrovcová, et al.
Brain (2017) Vol. 140, Iss. 8, pp. e49-e49
Open Access | Times Cited: 39
Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy
Antonella Sferra, Fabiana Fattori, Teresa Rizza, et al.
Human Molecular Genetics (2018) Vol. 27, Iss. 11, pp. 1892-1904
Open Access | Times Cited: 37
A Novel CCT5 Missense Variant Associated with Early Onset Motor Neuropathy
Vincenzo Antona, Federica Scalia, Elisa Giorgio, et al.
International Journal of Molecular Sciences (2020) Vol. 21, Iss. 20, pp. 7631-7631
Open Access | Times Cited: 32
Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone‐mediated tubulinopathy
Ben Pode‐Shakked, Hila Barash, Limor Ziv, et al.
Clinical Genetics (2016) Vol. 91, Iss. 5, pp. 725-738
Closed Access | Times Cited: 27
DNA Methylation in Babies Born to Nonsmoking Mothers Exposed to Secondhand Smoke during Pregnancy: An Epigenome-Wide Association Study
Bernard F. Fuemmeler, Mikhail G. Dozmorov, K. Elizabeth, et al.
Environmental Health Perspectives (2021) Vol. 129, Iss. 5
Open Access | Times Cited: 23
Expanding the phenotypic spectrum of truncating POGZ mutations: Association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphism
Maria Lisa Dentici, Marcello Niceta, Francesca Pantaleoni, et al.
American Journal of Medical Genetics Part A (2017) Vol. 173, Iss. 7, pp. 1965-1969
Closed Access | Times Cited: 27
Biallelic mutations in DYNC2LI1 are a rare cause of Ellis‐van Creveld syndrome
Marcello Niceta, Katia Margiotti, M. Cristina Digilio, et al.
Clinical Genetics (2017) Vol. 93, Iss. 3, pp. 632-639
Open Access | Times Cited: 27
TARP syndrome: Long-term survival, anatomic patterns of congenital heart defects, differential diagnosis and pathogenetic considerations
Marcello Niceta, Sabina Barresi, Francesca Pantaleoni, et al.
European Journal of Medical Genetics (2018) Vol. 62, Iss. 6, pp. 103534-103534
Open Access | Times Cited: 22
NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype–phenotype correlations
Diana Carli, Elisa Giorgio, Francesca Pantaleoni, et al.
Human Mutation (2019) Vol. 40, Iss. 6, pp. 721-728
Open Access | Times Cited: 22
Single-cell RNA-seq variant analysis for exploration of genetic heterogeneity in cancer
Erik Fasterius, Mathias Uhlén, Cristina Al‐Khalili Szigyarto
Scientific Reports (2019) Vol. 9, Iss. 1
Open Access | Times Cited: 22
Page 1 - Next Page

Scroll to top