
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:
Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder
Ning Liu, Kelly Schoch, Xi Luo, et al.
Human Molecular Genetics (2018) Vol. 27, Iss. 14, pp. 2454-2465
Open Access | Times Cited: 64
Ning Liu, Kelly Schoch, Xi Luo, et al.
Human Molecular Genetics (2018) Vol. 27, Iss. 14, pp. 2454-2465
Open Access | Times Cited: 64
Showing 1-25 of 64 citing articles:
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway
Justyna A. Karolak, Marie Vincent, Gail Deutsch, et al.
The American Journal of Human Genetics (2019) Vol. 104, Iss. 2, pp. 213-228
Open Access | Times Cited: 117
Justyna A. Karolak, Marie Vincent, Gail Deutsch, et al.
The American Journal of Human Genetics (2019) Vol. 104, Iss. 2, pp. 213-228
Open Access | Times Cited: 117
Phenotype characterisation of TBX4 mutation and deletion carriers with neonatal and paediatric pulmonary hypertension
Csaba Galambos, Mary P. Mullen, Joseph T.C. Shieh, et al.
European Respiratory Journal (2019) Vol. 54, Iss. 2, pp. 1801965-1801965
Open Access | Times Cited: 100
Csaba Galambos, Mary P. Mullen, Joseph T.C. Shieh, et al.
European Respiratory Journal (2019) Vol. 54, Iss. 2, pp. 1801965-1801965
Open Access | Times Cited: 100
IRF2BPL Is Associated with Neurological Phenotypes
Paul C. Marcogliese, Vandana Shashi, Rebecca C. Spillmann, et al.
The American Journal of Human Genetics (2018) Vol. 103, Iss. 2, pp. 245-260
Open Access | Times Cited: 92
Paul C. Marcogliese, Vandana Shashi, Rebecca C. Spillmann, et al.
The American Journal of Human Genetics (2018) Vol. 103, Iss. 2, pp. 245-260
Open Access | Times Cited: 92
The fruit fly at the interface of diagnosis and pathogenic mechanisms of rare and common human diseases
Hugo J. Bellen, Michael F. Wangler, Shinya Yamamoto
Human Molecular Genetics (2019) Vol. 28, Iss. R2, pp. R207-R214
Open Access | Times Cited: 89
Hugo J. Bellen, Michael F. Wangler, Shinya Yamamoto
Human Molecular Genetics (2019) Vol. 28, Iss. R2, pp. R207-R214
Open Access | Times Cited: 89
Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision
Dustin Baldridge, Michael F. Wangler, Angela N. Bowman, et al.
Orphanet Journal of Rare Diseases (2021) Vol. 16, Iss. 1
Open Access | Times Cited: 72
Dustin Baldridge, Michael F. Wangler, Angela N. Bowman, et al.
Orphanet Journal of Rare Diseases (2021) Vol. 16, Iss. 1
Open Access | Times Cited: 72
Integrating non-mammalian model organisms in the diagnosis of rare genetic diseases in humans
Shinya Yamamoto, Oguz Kanca, Michael F. Wangler, et al.
Nature Reviews Genetics (2023) Vol. 25, Iss. 1, pp. 46-60
Closed Access | Times Cited: 42
Shinya Yamamoto, Oguz Kanca, Michael F. Wangler, et al.
Nature Reviews Genetics (2023) Vol. 25, Iss. 1, pp. 46-60
Closed Access | Times Cited: 42
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases
Paul C. Marcogliese, Samantha L. Deal, Jonathan C. Andrews, et al.
Cell Reports (2022) Vol. 38, Iss. 11, pp. 110517-110517
Open Access | Times Cited: 39
Paul C. Marcogliese, Samantha L. Deal, Jonathan C. Andrews, et al.
Cell Reports (2022) Vol. 38, Iss. 11, pp. 110517-110517
Open Access | Times Cited: 39
Modeling human skeletal development using human pluripotent stem cells
Shireen R. Lamandé, Elizabeth S. Ng, Trevor L. Cameron, et al.
Proceedings of the National Academy of Sciences (2023) Vol. 120, Iss. 19
Open Access | Times Cited: 35
Shireen R. Lamandé, Elizabeth S. Ng, Trevor L. Cameron, et al.
Proceedings of the National Academy of Sciences (2023) Vol. 120, Iss. 19
Open Access | Times Cited: 35
Primary and secondary defects of the thymus
Sarah S. Dinges, Kayla Amini, Luigi D. Notarangelo, et al.
Immunological Reviews (2024) Vol. 322, Iss. 1, pp. 178-211
Closed Access | Times Cited: 11
Sarah S. Dinges, Kayla Amini, Luigi D. Notarangelo, et al.
Immunological Reviews (2024) Vol. 322, Iss. 1, pp. 178-211
Closed Access | Times Cited: 11
Clinical, Histopathological, and Molecular Diagnostics in Lethal Lung Developmental Disorders
Marie Vincent, Justyna A. Karolak, Gail Deutsch, et al.
American Journal of Respiratory and Critical Care Medicine (2019) Vol. 200, Iss. 9, pp. 1093-1101
Open Access | Times Cited: 70
Marie Vincent, Justyna A. Karolak, Gail Deutsch, et al.
American Journal of Respiratory and Critical Care Medicine (2019) Vol. 200, Iss. 9, pp. 1093-1101
Open Access | Times Cited: 70
Phenotype and outcome of pulmonary arterial hypertension patients carrying a TBX4 mutation
Pierre Thoré, Barbara Girerd, Xavier Jaïs, et al.
European Respiratory Journal (2020) Vol. 55, Iss. 5, pp. 1902340-1902340
Open Access | Times Cited: 51
Pierre Thoré, Barbara Girerd, Xavier Jaïs, et al.
European Respiratory Journal (2020) Vol. 55, Iss. 5, pp. 1902340-1902340
Open Access | Times Cited: 51
Regulation of otocyst patterning by Tbx2 and Tbx3 is required for inner ear morphogenesis in the mouse
Marina Kaiser, Irina Wojahn, Carsten Rudat, et al.
Development (2021) Vol. 148, Iss. 8
Open Access | Times Cited: 42
Marina Kaiser, Irina Wojahn, Carsten Rudat, et al.
Development (2021) Vol. 148, Iss. 8
Open Access | Times Cited: 42
Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability, and seizures
Shenzhao Lu, Rebecca Hernan, Paul C. Marcogliese, et al.
The American Journal of Human Genetics (2022) Vol. 109, Iss. 4, pp. 571-586
Open Access | Times Cited: 31
Shenzhao Lu, Rebecca Hernan, Paul C. Marcogliese, et al.
The American Journal of Human Genetics (2022) Vol. 109, Iss. 4, pp. 571-586
Open Access | Times Cited: 31
Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development
Peter Mustillo, Kathleen E. Sullivan, Iván K. Chinn, et al.
Journal of Clinical Immunology (2023) Vol. 43, Iss. 2, pp. 247-270
Open Access | Times Cited: 20
Peter Mustillo, Kathleen E. Sullivan, Iván K. Chinn, et al.
Journal of Clinical Immunology (2023) Vol. 43, Iss. 2, pp. 247-270
Open Access | Times Cited: 20
Human thymus in health and disease: Recent advances in diagnosis and biology
Marita Bosticardo, Luigi D. Notarangelo
Seminars in Immunology (2023) Vol. 66, pp. 101732-101732
Open Access | Times Cited: 17
Marita Bosticardo, Luigi D. Notarangelo
Seminars in Immunology (2023) Vol. 66, pp. 101732-101732
Open Access | Times Cited: 17
Parental Engagement in Identifying Information Needs After Newborn Screening for Families of Infants with Suspected Athymia
Evey Howley, Maarja Soomann, Alexandra Y. Kreins
Journal of Clinical Immunology (2024) Vol. 44, Iss. 3
Open Access | Times Cited: 6
Evey Howley, Maarja Soomann, Alexandra Y. Kreins
Journal of Clinical Immunology (2024) Vol. 44, Iss. 3
Open Access | Times Cited: 6
Current and Future Therapeutic Approaches for Thymic Stromal Cell Defects
Alexandra Y. Kreins, Paola Bonfanti, E. Graham Davies
Frontiers in Immunology (2021) Vol. 12
Open Access | Times Cited: 39
Alexandra Y. Kreins, Paola Bonfanti, E. Graham Davies
Frontiers in Immunology (2021) Vol. 12
Open Access | Times Cited: 39
Identifying digenic disease genes via machine learning in the Undiagnosed Diseases Network
Souhrid Mukherjee, Joy D. Cogan, John H. Newman, et al.
The American Journal of Human Genetics (2021) Vol. 108, Iss. 10, pp. 1946-1963
Open Access | Times Cited: 36
Souhrid Mukherjee, Joy D. Cogan, John H. Newman, et al.
The American Journal of Human Genetics (2021) Vol. 108, Iss. 10, pp. 1946-1963
Open Access | Times Cited: 36
Congenital Athymia: Genetic Etiologies, Clinical Manifestations, Diagnosis, and Treatment
Cathleen Collins, Emily E. Sharpe, Abigail Silber, et al.
Journal of Clinical Immunology (2021) Vol. 41, Iss. 5, pp. 881-895
Open Access | Times Cited: 34
Cathleen Collins, Emily E. Sharpe, Abigail Silber, et al.
Journal of Clinical Immunology (2021) Vol. 41, Iss. 5, pp. 881-895
Open Access | Times Cited: 34
De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement
Shenzhao Lu, Mengqi Ma, Xiao Mao, et al.
The American Journal of Human Genetics (2022) Vol. 109, Iss. 10, pp. 1932-1943
Open Access | Times Cited: 24
Shenzhao Lu, Mengqi Ma, Xiao Mao, et al.
The American Journal of Human Genetics (2022) Vol. 109, Iss. 10, pp. 1932-1943
Open Access | Times Cited: 24
Developmental disorders caused by haploinsufficiency of transcriptional regulators: a perspective based on cell fate determination
Roman Zug
Biology Open (2022) Vol. 11, Iss. 1
Open Access | Times Cited: 23
Roman Zug
Biology Open (2022) Vol. 11, Iss. 1
Open Access | Times Cited: 23
In Vivo Functional Study of Disease-associated Rare Human Variants Using <em>Drosophila</em>
J. Michael Harnish, Samantha L. Deal, Hsiao‐Tuan Chao, et al.
Journal of Visualized Experiments (2019), Iss. 150
Open Access | Times Cited: 40
J. Michael Harnish, Samantha L. Deal, Hsiao‐Tuan Chao, et al.
Journal of Visualized Experiments (2019), Iss. 150
Open Access | Times Cited: 40
FOXN1 compound heterozygous mutations cause selective thymic hypoplasia in humans
Qiumei Du, Larry Huynh, Fatma S. Coskun, et al.
Journal of Clinical Investigation (2019) Vol. 129, Iss. 11, pp. 4724-4738
Open Access | Times Cited: 37
Qiumei Du, Larry Huynh, Fatma S. Coskun, et al.
Journal of Clinical Investigation (2019) Vol. 129, Iss. 11, pp. 4724-4738
Open Access | Times Cited: 37
Unraveling Novel Mechanisms of Neurodegeneration Through a Large-Scale Forward Genetic Screen in Drosophila
Samantha L. Deal, Shinya Yamamoto
Frontiers in Genetics (2019) Vol. 9
Open Access | Times Cited: 35
Samantha L. Deal, Shinya Yamamoto
Frontiers in Genetics (2019) Vol. 9
Open Access | Times Cited: 35
A Genocentric Approach to Discovery of Mendelian Disorders
Adam Hansen, Mullai Murugan, He Li, et al.
The American Journal of Human Genetics (2019) Vol. 105, Iss. 5, pp. 974-986
Open Access | Times Cited: 34
Adam Hansen, Mullai Murugan, He Li, et al.
The American Journal of Human Genetics (2019) Vol. 105, Iss. 5, pp. 974-986
Open Access | Times Cited: 34