
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:
Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders
Joanne Trinh, Krishna Kumar Kandaswamy, Martin Werber, et al.
Journal of Neurodevelopmental Disorders (2019) Vol. 11, Iss. 1
Open Access | Times Cited: 45
Joanne Trinh, Krishna Kumar Kandaswamy, Martin Werber, et al.
Journal of Neurodevelopmental Disorders (2019) Vol. 11, Iss. 1
Open Access | Times Cited: 45
Showing 1-25 of 45 citing articles:
Cyclin-Dependent Kinases (CDK) and Their Role in Diseases Development–Review
Paweł Łukasik, Michał Załuski, Izabela Gutowska
International Journal of Molecular Sciences (2021) Vol. 22, Iss. 6, pp. 2935-2935
Open Access | Times Cited: 141
Paweł Łukasik, Michał Załuski, Izabela Gutowska
International Journal of Molecular Sciences (2021) Vol. 22, Iss. 6, pp. 2935-2935
Open Access | Times Cited: 141
Re-analysis of genomic data: An overview of the mechanisms and complexities of clinical adoption
Alan J. Robertson, Natalie B. Tan, Amanda B. Spurdle, et al.
Genetics in Medicine (2022) Vol. 24, Iss. 4, pp. 798-810
Open Access | Times Cited: 41
Alan J. Robertson, Natalie B. Tan, Amanda B. Spurdle, et al.
Genetics in Medicine (2022) Vol. 24, Iss. 4, pp. 798-810
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: 38
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: 38
Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review
Natalie B. Tan, Rachel Stapleton, Zornitza Stark, et al.
Molecular Genetics & Genomic Medicine (2020) Vol. 8, Iss. 11
Open Access | Times Cited: 69
Natalie B. Tan, Rachel Stapleton, Zornitza Stark, et al.
Molecular Genetics & Genomic Medicine (2020) Vol. 8, Iss. 11
Open Access | Times Cited: 69
Human Exome Sequencing and Prospects for Predictive Medicine: Analysis of International Data and Own Experience
Oleg S. Glotov, Alexander N. Chernov, Аndrey S. Glotov
Journal of Personalized Medicine (2023) Vol. 13, Iss. 8, pp. 1236-1236
Open Access | Times Cited: 13
Oleg S. Glotov, Alexander N. Chernov, Аndrey S. Glotov
Journal of Personalized Medicine (2023) Vol. 13, Iss. 8, pp. 1236-1236
Open Access | Times Cited: 13
CDK13‐Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management
Gianluca Contrò, Maria Chiara Baroni, Stefano Giuseppe Caraffi, et al.
Clinical Genetics (2025)
Open Access
Gianluca Contrò, Maria Chiara Baroni, Stefano Giuseppe Caraffi, et al.
Clinical Genetics (2025)
Open Access
Incidence of alternative splicing associated with sex and opioid effects in the axon guidance pathway
Bruce R. Southey, G T Sunderland, Andrea N Gomez, et al.
Gene (2025), pp. 149215-149215
Closed Access
Bruce R. Southey, G T Sunderland, Andrea N Gomez, et al.
Gene (2025), pp. 149215-149215
Closed Access
Novel NAXE variants as a cause for neurometabolic disorder: implications for treatment
Joanne Trinh, Sophie Imhoff, Marija Dulovic‐Mahlow, et al.
Journal of Neurology (2019) Vol. 267, Iss. 3, pp. 770-782
Closed Access | Times Cited: 33
Joanne Trinh, Sophie Imhoff, Marija Dulovic‐Mahlow, et al.
Journal of Neurology (2019) Vol. 267, Iss. 3, pp. 770-782
Closed Access | Times Cited: 33
Diagnostic Utility of Genome-Wide DNA Methylation Analysis in Mendelian Neurodevelopmental Disorders
Sadegheh Haghshenas, Pratibha Bhai, Erfan Aref‐Eshghi, et al.
International Journal of Molecular Sciences (2020) Vol. 21, Iss. 23, pp. 9303-9303
Open Access | Times Cited: 32
Sadegheh Haghshenas, Pratibha Bhai, Erfan Aref‐Eshghi, et al.
International Journal of Molecular Sciences (2020) Vol. 21, Iss. 23, pp. 9303-9303
Open Access | Times Cited: 32
CDK13-related disorder: a deep characterization of speech and language abilities and addition of 33 novel cases
Lottie D. Morison, Olivia van Reyk, Elana Forbes, et al.
European Journal of Human Genetics (2023) Vol. 31, Iss. 7, pp. 793-804
Open Access | Times Cited: 9
Lottie D. Morison, Olivia van Reyk, Elana Forbes, et al.
European Journal of Human Genetics (2023) Vol. 31, Iss. 7, pp. 793-804
Open Access | Times Cited: 9
Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting
Rayabarapu Pranav Chand, Wankhede Vinit, Varsha Vaidya, et al.
European Journal of Medical Genetics (2023) Vol. 66, Iss. 5, pp. 104730-104730
Closed Access | Times Cited: 9
Rayabarapu Pranav Chand, Wankhede Vinit, Varsha Vaidya, et al.
European Journal of Medical Genetics (2023) Vol. 66, Iss. 5, pp. 104730-104730
Closed Access | Times Cited: 9
Early embryogenesis in CHDFIDD mouse model reveals facial clefts and altered cranial neurogenesis
Marek Hampl, Nela Jandová, Denisa Lusková, et al.
Disease Models & Mechanisms (2024) Vol. 17, Iss. 6
Open Access | Times Cited: 3
Marek Hampl, Nela Jandová, Denisa Lusková, et al.
Disease Models & Mechanisms (2024) Vol. 17, Iss. 6
Open Access | Times Cited: 3
Cyclin-dependent kinases and rare developmental disorders
Pierre Colas
Orphanet Journal of Rare Diseases (2020) Vol. 15, Iss. 1
Open Access | Times Cited: 27
Pierre Colas
Orphanet Journal of Rare Diseases (2020) Vol. 15, Iss. 1
Open Access | Times Cited: 27
Genomic Analysis of Korean Patient With Microcephaly
Jiwon Lee, Jong Eun Park, Chung Lee, et al.
Frontiers in Genetics (2021) Vol. 11
Open Access | Times Cited: 17
Jiwon Lee, Jong Eun Park, Chung Lee, et al.
Frontiers in Genetics (2021) Vol. 11
Open Access | Times Cited: 17
Refining the Phenotypic Spectrum of KMT5B-Associated Developmental Delay
Aviva Eliyahu, Ortal Barel, Lior Greenbaum, et al.
Frontiers in Pediatrics (2022) Vol. 10
Open Access | Times Cited: 11
Aviva Eliyahu, Ortal Barel, Lior Greenbaum, et al.
Frontiers in Pediatrics (2022) Vol. 10
Open Access | Times Cited: 11
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice
Sarah E. Sheppard, Laura Bryant, Rochelle N. Wickramasekara, et al.
Science Advances (2023) Vol. 9, Iss. 10
Open Access | Times Cited: 6
Sarah E. Sheppard, Laura Bryant, Rochelle N. Wickramasekara, et al.
Science Advances (2023) Vol. 9, Iss. 10
Open Access | Times Cited: 6
Clinical next generation sequencing in developmental and epileptic encephalopathies: Diagnostic relevance of data re-analysis and variants re-interpretation
Valeria Salinas, Nerina Martínez, Josefina Pérez Maturo, et al.
European Journal of Medical Genetics (2021) Vol. 64, Iss. 12, pp. 104363-104363
Closed Access | Times Cited: 15
Valeria Salinas, Nerina Martínez, Josefina Pérez Maturo, et al.
European Journal of Medical Genetics (2021) Vol. 64, Iss. 12, pp. 104363-104363
Closed Access | Times Cited: 15
CHD4 variants are associated with childhood idiopathic epilepsy with sinus arrhythmia
Xiao‐Rong Liu, Ting‐Ting Ye, Wenjun Zhang, et al.
CNS Neuroscience & Therapeutics (2021) Vol. 27, Iss. 10, pp. 1146-1156
Open Access | Times Cited: 13
Xiao‐Rong Liu, Ting‐Ting Ye, Wenjun Zhang, et al.
CNS Neuroscience & Therapeutics (2021) Vol. 27, Iss. 10, pp. 1146-1156
Open Access | Times Cited: 13
Loss-of-function of KMT5B leads to neurodevelopmental disorder and impairs neuronal development and neurogenesis
Guodong Chen, Lin Han, Senwei Tan, et al.
Journal of genetics and genomics/Journal of Genetics and Genomics (2022) Vol. 49, Iss. 9, pp. 881-890
Closed Access | Times Cited: 9
Guodong Chen, Lin Han, Senwei Tan, et al.
Journal of genetics and genomics/Journal of Genetics and Genomics (2022) Vol. 49, Iss. 9, pp. 881-890
Closed Access | Times Cited: 9
Differential effects by sex with Kmt5b loss
Rochelle N. Wickramasekara, Brynn Robertson, Jason Hulen, et al.
Autism Research (2021) Vol. 14, Iss. 8, pp. 1554-1571
Open Access | Times Cited: 10
Rochelle N. Wickramasekara, Brynn Robertson, Jason Hulen, et al.
Autism Research (2021) Vol. 14, Iss. 8, pp. 1554-1571
Open Access | Times Cited: 10
Trio exome sequencing identified a novel de novo WASF1 missense variant leading to recurrent site substitution in a Chinese patient with developmental delay, microcephaly, and early-onset seizures: A mutational hotspot p.Trp161 and literature review
Arman Zhao, Rui Zhou, Qin Gu, et al.
Clinica Chimica Acta (2021) Vol. 523, pp. 10-18
Closed Access | Times Cited: 9
Arman Zhao, Rui Zhou, Qin Gu, et al.
Clinica Chimica Acta (2021) Vol. 523, pp. 10-18
Closed Access | Times Cited: 9
A rigorous in silico genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders
Afif Ben‐Mahmoud, Kyung Ran Jun, Vijay Gupta, et al.
Frontiers in Molecular Neuroscience (2022) Vol. 15
Open Access | Times Cited: 6
Afif Ben‐Mahmoud, Kyung Ran Jun, Vijay Gupta, et al.
Frontiers in Molecular Neuroscience (2022) Vol. 15
Open Access | Times Cited: 6
A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome
Afif Ben‐Mahmoud, Shotaro Kishikawa, Vijay Gupta, et al.
Scientific Reports (2023) Vol. 13, Iss. 1
Open Access | Times Cited: 3
Afif Ben‐Mahmoud, Shotaro Kishikawa, Vijay Gupta, et al.
Scientific Reports (2023) Vol. 13, Iss. 1
Open Access | Times Cited: 3
Genetic of preimplantation diagnosis of dysmorphic facial features and intellectual developmental disorder (CHDFIDD) without congenital heart defects
Xiangrong Cui, Xueqing Wu, Hongwei Wang, et al.
Molecular Genetics & Genomic Medicine (2022) Vol. 10, Iss. 2
Open Access | Times Cited: 5
Xiangrong Cui, Xueqing Wu, Hongwei Wang, et al.
Molecular Genetics & Genomic Medicine (2022) Vol. 10, Iss. 2
Open Access | Times Cited: 5
Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13
Anushree Acharya, Syed Irfan Raza, Muhammad Zeeshan Anwar, et al.
Journal of Human Genetics (2021) Vol. 66, Iss. 10, pp. 1009-1018
Open Access | Times Cited: 6
Anushree Acharya, Syed Irfan Raza, Muhammad Zeeshan Anwar, et al.
Journal of Human Genetics (2021) Vol. 66, Iss. 10, pp. 1009-1018
Open Access | Times Cited: 6