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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:

Exploring genotype‐phenotype relationships in the CDKL5 deficiency disorder using an international dataset
Conor I. MacKay, Kingsley Wong, Scott Demarest, et al.
Clinical Genetics (2020) Vol. 99, Iss. 1, pp. 157-165
Closed Access | Times Cited: 28

Showing 1-25 of 28 citing articles:

CDKL5 deficiency disorder: clinical features, diagnosis, and management
Helen Leonard, Jenny Downs, Tim A. Benke, et al.
The Lancet Neurology (2022) Vol. 21, Iss. 6, pp. 563-576
Open Access | Times Cited: 88
CDKL5 deficiency disorder: molecular insights and mechanisms of pathogenicity to fast-track therapeutic development
Nicole J. Van Bergen, Sean Massey, Anita Quigley, et al.
Biochemical Society Transactions (2022) Vol. 50, Iss. 4, pp. 1207-1224
Open Access | Times Cited: 31
Enhanced hippocampal LTP but normal NMDA receptor and AMPA receptor function in a rat model of CDKL5 deficiency disorder
Laura Simões de Oliveira, Heather O’Leary, Sarfaraz Nawaz, et al.
Molecular Autism (2024) Vol. 15, Iss. 1
Open Access | Times Cited: 8
International Consensus Recommendations for the Assessment and Management of Individuals With CDKL5 Deficiency Disorder
Sam Amin, Marie Monaghan, Ángel Aledo‐Serrano, et al.
Frontiers in Neurology (2022) Vol. 13
Open Access | Times Cited: 25
Caregiver Perspective of Benefits and Side Effects of Anti-Seizure Medications in CDKL5 Deficiency Disorder from an International Database
Kingsley Wong, Mohammed Junaid, Solomon Alexander, et al.
CNS Drugs (2024) Vol. 38, Iss. 9, pp. 719-732
Open Access | Times Cited: 4
A Novel Mouse Model Unveils Protein Deficiency in Truncated CDKL5 Mutations
Feng Xue, Zi‐Ai Zhu, Hongtao Wang, et al.
Neuroscience Bulletin (2025)
Open Access
CDKL5 deficiency disorder in males: Five new variants and review of the literature
Barbara Siri, Costanza Varesio, Elena Freri, et al.
European Journal of Paediatric Neurology (2021) Vol. 33, pp. 9-20
Closed Access | Times Cited: 27
The natural history of CDKL5 deficiency disorder into adulthood
Ángel Aledo‐Serrano, David Lewis‐Smith, Helen Leonard, et al.
medRxiv (Cold Spring Harbor Laboratory) (2025)
Open Access
Patient-Derived Induced Pluripotent Stem Cells (iPSCs) and Cerebral Organoids for Drug Screening and Development in Autism Spectrum Disorder: Opportunities and Challenges
Chiara Villa, Romina Combi, Donatella Conconi, et al.
Pharmaceutics (2021) Vol. 13, Iss. 2, pp. 280-280
Open Access | Times Cited: 23
Analysis of X‐inactivation status in a Rett syndrome natural history study cohort
Xiaolan Fang, Kameryn M. Butler, Fatima Abidi, et al.
Molecular Genetics & Genomic Medicine (2022) Vol. 10, Iss. 5
Open Access | Times Cited: 15
Factors influencing the attainment of major motor milestones in CDKL5 deficiency disorder
Kingsley Wong, Mohammed Junaid, Scott Demarest, et al.
European Journal of Human Genetics (2022) Vol. 31, Iss. 2, pp. 169-178
Open Access | Times Cited: 12
Overcoming genetic and cellular complexity to study the pathophysiology of X-linked intellectual disabilities
Dayne Martinez, Evan Jiang, Zhaolan Zhou
Journal of Neurodevelopmental Disorders (2024) Vol. 16, Iss. 1
Open Access | Times Cited: 2
Influences on the trajectory and subsequent outcomes in CDKL5 deficiency disorder
Helen Leonard, Mohammed Junaid, Kingsley Wong, et al.
Epilepsia (2021) Vol. 63, Iss. 2, pp. 352-363
Closed Access | Times Cited: 13
CDKL5 Deficiency Disorder Without Epilepsy
Gemma Aznar-Laín, Daniel Martín Fernández‐Mayoralas, Anne G. Caicoya, et al.
Pediatric Neurology (2023) Vol. 144, pp. 84-89
Closed Access | Times Cited: 5
Psychometric evaluation of clinician‐ and caregiver‐reported clinical severity assessments for individuals with CDKL5 deficiency disorder
Jacinta Saldaris, Peter Jacoby, Jenny Downs, et al.
Epilepsia (2024) Vol. 65, Iss. 10, pp. 3064-3075
Open Access | Times Cited: 1
Excitatory Cortical Neurons from CDKL5 Deficiency Disorder Patient-Derived Organoids Show Early Hyperexcitability Not Identified in Neurogenin2 Induced Neurons
Madison R. Glass, Dosh Whye, Nickesha C. Anderson, et al.
bioRxiv (Cold Spring Harbor Laboratory) (2024)
Open Access | Times Cited: 1
Clinical Trial Design for Disease-Modifying Therapies for Genetic Epilepsies
Dylan Brock, Scott Demarest, Tim A. Benke
Neurotherapeutics (2021) Vol. 18, Iss. 3, pp. 1445-1457
Open Access | Times Cited: 10
Genetic analysis using targeted exome sequencing of 53 Vietnamese children with developmental and epileptic encephalopathies
Nguyen Le Trung Hieu, Nguyen Thuy Minh Thu, Le Tran Anh Ngan, et al.
American Journal of Medical Genetics Part A (2022) Vol. 188, Iss. 7, pp. 2048-2060
Closed Access | Times Cited: 5
Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain
Laura Keehan, Isabel Haviland, Yoel Gofin, et al.
American Journal of Medical Genetics Part A (2022) Vol. 188, Iss. 12, pp. 3516-3524
Open Access | Times Cited: 5
CDKL5 deficiency causes epileptic seizures independent of cellular mosaicism
Satoru Takahashi, Ryo Takeguchi, Ryosuke Tanaka, et al.
Journal of the Neurological Sciences (2022) Vol. 443, pp. 120498-120498
Closed Access | Times Cited: 3
Deletions in the CDKL5 5′ untranslated region lead to CDKL5 deficiency disorder
Isabel Haviland, Ralph D. Hector, Lindsay C. Swanson, et al.
American Journal of Medical Genetics Part A (2024) Vol. 197, Iss. 1
Open Access
A new knockin mouse carrying the E364X patient mutation for CDKL5 deficiency disorder: neurological, behavioral and molecular profiling.
Corinne Quadalti, Michele Sannia, Nigel Humphreys, et al.
Heliyon (2024) Vol. 10, Iss. 21, pp. e40165-e40165
Closed Access
Measuring the burden of epilepsy hospitalisations in CDKL5 Deficiency Disorder
Mohammed Junaid, Kingsley Wong, Minna A. Korolainen, et al.
Pediatric Neurology (2024) Vol. 163, pp. 68-75
Closed Access
Growth patterns in individuals with CDKL5 deficiency disorder
Kingsley Wong, George R. Davies, Helen Leonard, et al.
Developmental Medicine & Child Neurology (2023) Vol. 66, Iss. 4, pp. 469-482
Open Access | Times Cited: 1
Malformations of Cortical Development
Ana Filipa Geraldo, Andrea Rossi, Mariasavina Severino
Springer eBooks (2021), pp. 1-237
Closed Access | Times Cited: 2
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