
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 contribution of whole-exome sequencing to intellectual disability diagnosis and knowledge of underlying molecular mechanisms: A systematic review and meta-analysis
Karen Sánchez-Luquez, Marina Xavier Carpena, Simone de Menezes Karam, et al.
Mutation Research/Reviews in Mutation Research (2022) Vol. 790, pp. 108428-108428
Open Access | Times Cited: 20
Karen Sánchez-Luquez, Marina Xavier Carpena, Simone de Menezes Karam, et al.
Mutation Research/Reviews in Mutation Research (2022) Vol. 790, pp. 108428-108428
Open Access | Times Cited: 20
Showing 20 citing articles:
Diagnostic Utility of Trio–Exome Sequencing for Children With Neurodevelopmental Disorders
Xiaoping Lan, Xiaojun Tang, Wenhao Weng, et al.
JAMA Network Open (2025) Vol. 8, Iss. 3, pp. e251807-e251807
Open Access | Times Cited: 1
Xiaoping Lan, Xiaojun Tang, Wenhao Weng, et al.
JAMA Network Open (2025) Vol. 8, Iss. 3, pp. e251807-e251807
Open Access | Times Cited: 1
Long‐read sequencing for molecular diagnostics in constitutional genetic disorders
Laura K. Conlin, Erfan Aref‐Eshghi, Deborah McEldrew, et al.
Human Mutation (2022) Vol. 43, Iss. 11, pp. 1531-1544
Open Access | Times Cited: 35
Laura K. Conlin, Erfan Aref‐Eshghi, Deborah McEldrew, et al.
Human Mutation (2022) Vol. 43, Iss. 11, pp. 1531-1544
Open Access | Times Cited: 35
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
X-Linked Autism Type 9 Caused by a Hemizygote Pathogenic Variant in the TMLHE Gene: Etiological Diagnosis in an Adult Male with Moderate Intellectual Disability
W.M.A. Verhoeven, Rolph Pfundt, Udo F. H. Engelke, et al.
International Medical Case Reports Journal (2025) Vol. Volume 18, pp. 111-116
Open Access
W.M.A. Verhoeven, Rolph Pfundt, Udo F. H. Engelke, et al.
International Medical Case Reports Journal (2025) Vol. Volume 18, pp. 111-116
Open Access
Novel mutations found in genes involved in global developmental delay and intellectual disability by whole-exome sequencing, homology modeling, and systems biology
Nafiseh Moeinifar, Zohreh Hojati
The World Journal of Biological Psychiatry (2025), pp. 1-16
Closed Access
Nafiseh Moeinifar, Zohreh Hojati
The World Journal of Biological Psychiatry (2025), pp. 1-16
Closed Access
Exploring information needs among family caregivers of children with intellectual disability in a rural area of South Africa: a qualitative study
Mantji Juliah Modula, Mpho Grace Chipu
BMC Public Health (2024) Vol. 24, Iss. 1
Open Access | Times Cited: 3
Mantji Juliah Modula, Mpho Grace Chipu
BMC Public Health (2024) Vol. 24, Iss. 1
Open Access | Times Cited: 3
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
Genetic Testing for Global Developmental Delay in Early Childhood
Jiamei Zhang, Yiran Xu, Yun Liu, et al.
JAMA Network Open (2024) Vol. 7, Iss. 6, pp. e2415084-e2415084
Open Access | Times Cited: 2
Jiamei Zhang, Yiran Xu, Yun Liu, et al.
JAMA Network Open (2024) Vol. 7, Iss. 6, pp. e2415084-e2415084
Open Access | Times Cited: 2
Spectrum of genetic disorders and gene variants in the United Arab Emirates national population: insights from the CTGA database
Sami Bizzari, Pratibha Nair, Sayeeda Hana, et al.
Frontiers in Genetics (2023) Vol. 14
Open Access | Times Cited: 6
Sami Bizzari, Pratibha Nair, Sayeeda Hana, et al.
Frontiers in Genetics (2023) Vol. 14
Open Access | Times Cited: 6
Comparison of first‐tier whole‐exome sequencing with a multi‐step traditional approach for diagnosing paediatric outpatients: An Italian prospective study
Erica Rosina, Lidia Pezzani, Erika Apuril, et al.
Molecular Genetics & Genomic Medicine (2023) Vol. 12, Iss. 1
Open Access | Times Cited: 6
Erica Rosina, Lidia Pezzani, Erika Apuril, et al.
Molecular Genetics & Genomic Medicine (2023) Vol. 12, Iss. 1
Open Access | Times Cited: 6
Global developmental delay and intellectual disability in the era of genomics: Diagnosis and challenges in resource limited areas
Amira Masri, Liyana Oweis, Majd Ali, et al.
Clinical Neurology and Neurosurgery (2023) Vol. 230, pp. 107799-107799
Closed Access | Times Cited: 5
Amira Masri, Liyana Oweis, Majd Ali, et al.
Clinical Neurology and Neurosurgery (2023) Vol. 230, pp. 107799-107799
Closed Access | Times Cited: 5
Skewed X-chromosome Inactivation in Women with Idiopathic Intellectual Disability is Indicative of Pathogenic Variants
Luiza Dias Chaves, Laura Machado Lara Carvalho, Giovanna Cantini Tolezano, et al.
Molecular Neurobiology (2023) Vol. 60, Iss. 7, pp. 3758-3769
Open Access | Times Cited: 4
Luiza Dias Chaves, Laura Machado Lara Carvalho, Giovanna Cantini Tolezano, et al.
Molecular Neurobiology (2023) Vol. 60, Iss. 7, pp. 3758-3769
Open Access | Times Cited: 4
Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases
Clara D.M. van Karnebeek, Anne O’Donnell‐Luria, Gareth Baynam, et al.
Orphanet Journal of Rare Diseases (2024) Vol. 19, Iss. 1
Open Access | Times Cited: 1
Clara D.M. van Karnebeek, Anne O’Donnell‐Luria, Gareth Baynam, et al.
Orphanet Journal of Rare Diseases (2024) Vol. 19, Iss. 1
Open Access | Times Cited: 1
Trio-whole exome sequencing reveals the importance of de novo variants in children with intellectual disability and developmental delay
Chengyan Li, You Wang, Chao Zeng, et al.
Scientific Reports (2024) Vol. 14, Iss. 1
Open Access | Times Cited: 1
Chengyan Li, You Wang, Chao Zeng, et al.
Scientific Reports (2024) Vol. 14, Iss. 1
Open Access | Times Cited: 1
A NEW PERSPECTIVE ON ISOTRETINOIN IN PREGNANCY: PREGNANCY OUTCOMES, EVALUATION OF COMPLEX PHENOTYPES, AND IMPORTANCE OF TERATOLOGICAL COUNSELLING
Mustafa Tarık Alay, Aysel Kalaycı Yiğin, Mehmet Seven
medRxiv (Cold Spring Harbor Laboratory) (2023)
Open Access | Times Cited: 2
Mustafa Tarık Alay, Aysel Kalaycı Yiğin, Mehmet Seven
medRxiv (Cold Spring Harbor Laboratory) (2023)
Open Access | Times Cited: 2
Clinically relevant variants detected in Chinese children with global developmental delay/intellectual disability: An exome-wide sequencing study
Yunlong Qiao, Nan Lv, Tongchuan Li, et al.
Genes & Diseases (2024) Vol. 12, Iss. 4, pp. 101389-101389
Open Access
Yunlong Qiao, Nan Lv, Tongchuan Li, et al.
Genes & Diseases (2024) Vol. 12, Iss. 4, pp. 101389-101389
Open Access
Expanding the genotypic and phenotypic spectrum of EAST/SeSAME syndrome: identification of a novel homozygous mutation (c.194 G > A) in KCNJ10 gene
Abolfazl Yari, Leyla Dalvand, Bahareh Esmaeili Moghaddam, et al.
Neurological Sciences (2024)
Closed Access
Abolfazl Yari, Leyla Dalvand, Bahareh Esmaeili Moghaddam, et al.
Neurological Sciences (2024)
Closed Access
A new perspective on isotretinoin in pregnancy: Pregnancy outcomes, evaluation of complex phenotypes, and importance of teratological counselling
Mustafa Tarık Alay, Aysel Kalayci, Mehmet Seven
European Journal of Obstetrics & Gynecology and Reproductive Biology (2023) Vol. 291, pp. 148-155
Open Access | Times Cited: 1
Mustafa Tarık Alay, Aysel Kalayci, Mehmet Seven
European Journal of Obstetrics & Gynecology and Reproductive Biology (2023) Vol. 291, pp. 148-155
Open Access | Times Cited: 1
Darwin, Gödel, Luria, Delbrück: Biomedical, Mathematical, and Metamathematical Perspectives on Attributes and Consequences of Random Somatic Mutations Subject to Selection
Neil S. Greenspan, Owen Han
(2023)
Open Access | Times Cited: 1
Neil S. Greenspan, Owen Han
(2023)
Open Access | Times Cited: 1
Sequenciamento do exoma e reanálise de variações do número de cópias em indivíduos com deficiência intelectual/atraso do desenvolvimento neuropsicomotor e (ou) anomalias congênitas múltiplas
Samira Spineli Silva
(2023)
Open Access
Samira Spineli Silva
(2023)
Open Access
Spectrum of Genetic Disorders and Gene Variants in the United Arab Emirates National Population: Insights from the CTGA Database
Sami Bizzari, Pratibha Nair, Sayeeda Hana, et al.
medRxiv (Cold Spring Harbor Laboratory) (2023)
Open Access
Sami Bizzari, Pratibha Nair, Sayeeda Hana, et al.
medRxiv (Cold Spring Harbor Laboratory) (2023)
Open Access