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:
Intellectual disability genomics: current state, pitfalls and future challenges
Nuno Maia, Maria João Nabais Sá, Manuel Melo Pires, et al.
BMC Genomics (2021) Vol. 22, Iss. 1
Open Access | Times Cited: 57
Nuno Maia, Maria João Nabais Sá, Manuel Melo Pires, et al.
BMC Genomics (2021) Vol. 22, Iss. 1
Open Access | Times Cited: 57
Showing 1-25 of 57 citing articles:
Comparing ability and norm-referenced scores as clinical trial outcomes for neurodevelopmental disabilities: a simulation study
Cristan Farmer, Audrey Thurm, Jesse D. Troy, et al.
Journal of Neurodevelopmental Disorders (2023) Vol. 15, Iss. 1
Open Access | Times Cited: 16
Cristan Farmer, Audrey Thurm, Jesse D. Troy, et al.
Journal of Neurodevelopmental Disorders (2023) Vol. 15, Iss. 1
Open Access | Times Cited: 16
Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort
Kerith‐Rae Dias, Rupendra Shrestha, Deborah Schofield, et al.
Genetics in Medicine (2024) Vol. 26, Iss. 5, pp. 101076-101076
Closed Access | Times Cited: 4
Kerith‐Rae Dias, Rupendra Shrestha, Deborah Schofield, et al.
Genetics in Medicine (2024) Vol. 26, Iss. 5, pp. 101076-101076
Closed Access | Times Cited: 4
Improved Diagnostic Yield in Recessive Intellectual Disability Utilizing Systematic Whole Exome Sequencing Data Reanalysis
Zohreh Fattahi, Ebrahim Shokouhian, Fatemeh Peymani, et al.
Clinical Genetics (2025)
Open Access
Zohreh Fattahi, Ebrahim Shokouhian, Fatemeh Peymani, et al.
Clinical Genetics (2025)
Open Access
Diversity and consequences of structural variation in the human genome
Ryan L. Collins, Michael E. Talkowski
Nature Reviews Genetics (2025)
Closed Access
Ryan L. Collins, Michael E. Talkowski
Nature Reviews Genetics (2025)
Closed Access
Exploring the connection between RNA splicing and intellectual disability
Anthony Caputo, Ashleigh E. Schaffer
Current Opinion in Genetics & Development (2025) Vol. 91, pp. 102322-102322
Open Access
Anthony Caputo, Ashleigh E. Schaffer
Current Opinion in Genetics & Development (2025) Vol. 91, pp. 102322-102322
Open Access
‘Mind the Gap’—A Survey on Care Gaps and Priorities for the Transition to Adult Healthcare According to Caregivers of Young People With Rare Conditions Associated With Intellectual Disability
Mirthe J Klein Haneveld, Klea Vyshka, Charlotte M. W. Gaasterland, et al.
Journal of Intellectual Disability Research (2025)
Open Access
Mirthe J Klein Haneveld, Klea Vyshka, Charlotte M. W. Gaasterland, et al.
Journal of Intellectual Disability Research (2025)
Open Access
Novel Compound Heterozygous Variants in ZNF526 Causing Dentici‐Novelli Neurodevelopmental Syndrome: A Case Report and Literature Review
Shaoxin Li, Hui Fang, Hong Li, et al.
Molecular Genetics & Genomic Medicine (2025) Vol. 13, Iss. 4
Open Access
Shaoxin Li, Hui Fang, Hong Li, et al.
Molecular Genetics & Genomic Medicine (2025) Vol. 13, Iss. 4
Open Access
Protein-truncating variants and deletions of SHANK2 are associated with autism spectrum disorder and other neurodevelopmental concerns
Hailey Silver, Rosalie Greenberg, Paige M. Siper, et al.
Journal of Neurodevelopmental Disorders (2025) Vol. 17, Iss. 1
Open Access
Hailey Silver, Rosalie Greenberg, Paige M. Siper, et al.
Journal of Neurodevelopmental Disorders (2025) Vol. 17, Iss. 1
Open Access
Global developmental delay: comparison of developmental profiles between gene-positive/suspicious positive and gene-negative cases
Ling Shan, Miaoshui Bai, Hanyu Dong, et al.
Pediatric Research (2025)
Open Access
Ling Shan, Miaoshui Bai, Hanyu Dong, et al.
Pediatric Research (2025)
Open Access
Improving care for rare genetic neurodevelopmental disorders: A systematic review and critical appraisal of clinical practice guidelines using AGREE II
Mirthe J Klein Haneveld, Iméze J. Hieltjes, Miranda Langendam, et al.
Genetics in Medicine (2024) Vol. 26, Iss. 4, pp. 101071-101071
Open Access | Times Cited: 3
Mirthe J Klein Haneveld, Iméze J. Hieltjes, Miranda Langendam, et al.
Genetics in Medicine (2024) Vol. 26, Iss. 4, pp. 101071-101071
Open Access | Times Cited: 3
Biallelic variants in NSUN6 cause an autosomal recessive neurodevelopmental disorder
Francesca Mattioli, Lina Worpenberg, Cai‐Tao Li, et al.
Genetics in Medicine (2023) Vol. 25, Iss. 9, pp. 100900-100900
Open Access | Times Cited: 9
Francesca Mattioli, Lina Worpenberg, Cai‐Tao Li, et al.
Genetics in Medicine (2023) Vol. 25, Iss. 9, pp. 100900-100900
Open Access | Times Cited: 9
Genome-Wide Sequencing Modalities for Children with Unexplained Global Developmental Delay and Intellectual Disabilities—A Narrative Review
Mary Ko, Hui-Ju Chen
Children (2023) Vol. 10, Iss. 3, pp. 501-501
Open Access | Times Cited: 8
Mary Ko, Hui-Ju Chen
Children (2023) Vol. 10, Iss. 3, pp. 501-501
Open Access | Times Cited: 8
Newborn Screening for Neurodevelopmental Disorders May Exacerbate Health Disparities
Sarah A. Sobotka, Lainie Friedman Ross
PEDIATRICS (2023) Vol. 152, Iss. 4
Closed Access | Times Cited: 7
Sarah A. Sobotka, Lainie Friedman Ross
PEDIATRICS (2023) Vol. 152, Iss. 4
Closed Access | Times Cited: 7
Growth, body composition, and endocrine‐metabolic profiles of individuals with Kleefstra syndrome provide directions for clinical management and translational studies
Arianne Bouman, Joyce Geelen, Joost Kummeling, et al.
American Journal of Medical Genetics Part A (2023) Vol. 194, Iss. 5
Open Access | Times Cited: 7
Arianne Bouman, Joyce Geelen, Joost Kummeling, et al.
American Journal of Medical Genetics Part A (2023) Vol. 194, Iss. 5
Open Access | Times Cited: 7
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance
Amélie Cordovado, Martina Schaettin, Médéric Jeanne, et al.
Human Molecular Genetics (2022) Vol. 31, Iss. 19, pp. 3325-3340
Open Access | Times Cited: 12
Amélie Cordovado, Martina Schaettin, Médéric Jeanne, et al.
Human Molecular Genetics (2022) Vol. 31, Iss. 19, pp. 3325-3340
Open Access | Times Cited: 12
The Mendelian disorders of chromatin machinery: Harnessing metabolic pathways and therapies for treatment
Sarah Donoghue, Jordan L. Wright, Anne K. Voss, et al.
Molecular Genetics and Metabolism (2024) Vol. 142, Iss. 1, pp. 108360-108360
Open Access | Times Cited: 2
Sarah Donoghue, Jordan L. Wright, Anne K. Voss, et al.
Molecular Genetics and Metabolism (2024) Vol. 142, Iss. 1, pp. 108360-108360
Open Access | Times Cited: 2
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
Dayne Martinez, Evan Jiang, Zhaolan Zhou
Journal of Neurodevelopmental Disorders (2024) Vol. 16, Iss. 1
Open Access | Times Cited: 2
Dementia in Rare Genetic Neurodevelopmental Disorders
Hadassa Kwetsie, Malu van Schaijk, Sven J. van der Lee, et al.
Neurology (2024) Vol. 102, Iss. 11
Open Access | Times Cited: 2
Hadassa Kwetsie, Malu van Schaijk, Sven J. van der Lee, et al.
Neurology (2024) Vol. 102, Iss. 11
Open Access | Times Cited: 2
Identification of two novel variants of the BCL11B gene in two Chinese pedigrees associated with neurodevelopmental disorders
Fengyu Che, Xiaoling Tie, Lei Hong, et al.
Frontiers in Molecular Neuroscience (2022) Vol. 15
Open Access | Times Cited: 11
Fengyu Che, Xiaoling Tie, Lei Hong, et al.
Frontiers in Molecular Neuroscience (2022) Vol. 15
Open Access | Times Cited: 11
Two Genetic Mechanisms in Two Siblings with Intellectual Disability, Autism Spectrum Disorder, and Psychosis
Yu‐Shu Huang, Ting-Hsuan Fang, Belle Kung, et al.
Journal of Personalized Medicine (2022) Vol. 12, Iss. 6, pp. 1013-1013
Open Access | Times Cited: 10
Yu‐Shu Huang, Ting-Hsuan Fang, Belle Kung, et al.
Journal of Personalized Medicine (2022) Vol. 12, Iss. 6, pp. 1013-1013
Open Access | Times Cited: 10
Knockdown of Chronophage in the nervous system mimics features of neurodevelopmental disorders caused by BCL11A/B variants
Mizuki Yamaguchi, Man Anh Huynh, Tomohiro Chiyonobu, et al.
Experimental Cell Research (2023) Vol. 433, Iss. 2, pp. 113827-113827
Closed Access | Times Cited: 4
Mizuki Yamaguchi, Man Anh Huynh, Tomohiro Chiyonobu, et al.
Experimental Cell Research (2023) Vol. 433, Iss. 2, pp. 113827-113827
Closed Access | Times Cited: 4
The Role of KDM2A and H3K36me2 Demethylation in Modulating MAPK Signaling During Neurodevelopment
Zongyao Ren, Haiyan Tang, Wendiao Zhang, et al.
Neuroscience Bulletin (2023) Vol. 40, Iss. 8, pp. 1076-1092
Closed Access | Times Cited: 4
Zongyao Ren, Haiyan Tang, Wendiao Zhang, et al.
Neuroscience Bulletin (2023) Vol. 40, Iss. 8, pp. 1076-1092
Closed Access | Times Cited: 4
Rare neurodevelopmental conditions and parents’ mental health – how and when does genetic diagnosis matter?
Zhaotian Chi, Rory T. Devine, Jeanne Wolstencroft, et al.
Orphanet Journal of Rare Diseases (2024) Vol. 19, Iss. 1
Open Access | Times Cited: 1
Zhaotian Chi, Rory T. Devine, Jeanne Wolstencroft, et al.
Orphanet Journal of Rare Diseases (2024) Vol. 19, Iss. 1
Open Access | Times Cited: 1
Views of Genetic Testing for Autism Among Autism Self-Advocates: A Qualitative Study
Robert Klitzman, Ekaterina Bezborodko, Wendy K. Chung, et al.
AJOB Empirical Bioethics (2024) Vol. 15, Iss. 4, pp. 262-279
Closed Access | Times Cited: 1
Robert Klitzman, Ekaterina Bezborodko, Wendy K. Chung, et al.
AJOB Empirical Bioethics (2024) Vol. 15, Iss. 4, pp. 262-279
Closed Access | Times Cited: 1
Expression and Function of Long Non-coding RNA in Endemic Cretinism
Yanhong He, Jianshuang Li, Yun Chen, et al.
Molecular Neurobiology (2024)
Closed Access | Times Cited: 1
Yanhong He, Jianshuang Li, Yun Chen, et al.
Molecular Neurobiology (2024)
Closed Access | Times Cited: 1
