Research output per year
Research output per year
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Dive into the research topics where Center for Artificial Intelligence in Children’s Health is active. These topic labels come from the works of this organization's members. Together they form a unique fingerprint.
Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
Profiles
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Bruce Gelb
- Mount Sinai Academy of Physician-Scientists
- Center for Artificial Intelligence in Children’s Health
- Institute for Regenerative Medicine
- Black Family Stem Cell Institute
- Cardiovascular Research Institute
- Environmental Medicine
- Friedman Brain Institute
- Genetics and Genomic Sciences
- Graduate School of Biomedical Sciences
- Icahn School of Medicine at Mount Sinai
- Institute for Exposomic Research
- Mindich Child Health and Development Institute
- Pediatrics
Person
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Benjamin Glicksberg
- Artificial Intelligence and Human Health
- Center for Artificial Intelligence in Children’s Health
- Graduate School of Biomedical Sciences
- Hasso Plattner Institute for Digital Health at Mount Sinai
- Icahn School of Medicine at Mount Sinai
- Mindich Child Health and Development Institute
- Pediatrics
- The Charles Bronfman Institute for Personalized Medicine
Person
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Girish Nadkarni
- The Charles Bronfman Institute for Personalized Medicine
- Center for Artificial Intelligence in Children’s Health
- Institute for Health Equity Research
- Artificial Intelligence and Human Health
- Data-Driven and Digital Medicine
- Graduate School of Biomedical Sciences
- Hasso Plattner Institute for Digital Health at Mount Sinai
- Icahn School of Medicine at Mount Sinai
- Medicine
- Medicine - Nephrology
- Mount Sinai Academy of Physician-Scientists
- Mount Sinai Clinical Intelligence Institute
- Nephrology T32
Person
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A novel spliceosomopathy caused by de novo SF3B3 variants
Musante, L., Janos, P., Pianigiani, G., Cappelli, S., Longo, A., Alves, C., Schwaibold, E. M. C., Wagner, M., Costain, G., Fridriksdottir, R., Stefansson, K., Sulem, P., Lichtenbelt, K. D., van Binsbergen, E., van Jaarsveld, R. H., Brusco, A., Pavinato, L., Biamino, E., Spano, A. & Hildebrandt, C. C. & 29 others, , Dec 2026, In: Genome Medicine. 18, 1, 34.Research output: Contribution to journal › Article › peer-review
Open Access -
Cancer risk in adults with pathogenic germline variants in RAS/MAPK genes using genomic ascertainment
Kim, J., Ney, G., Frone, M. N., Haley, J. S., Ramos, M. L. F., Mirshahi, U. L., Astiazaran-Symonds, E., Shandrina, M., Urban, G., Rao, H. S., Stahl, R. C., Golden, A., Yohe, M. E., Gross, A. M., Ding, Y., Carey, D. J., Gelb, B. D. & Stewart, D. R., Jun 2026, In: Genetics in Medicine. 28, 6, 102561.Research output: Contribution to journal › Article › peer-review
Open Access -
cellSTAAR: incorporating single-cell-sequencing-based functional data to boost power in rare variant association testing of noncoding regions
NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Feb 2026, In: Nature Methods. 23, 2, p. 338-349 12 p.Research output: Contribution to journal › Article › peer-review
1 Scopus citations -
Development and multicentre validation of an artificial intelligence electrocardiogram model for ventricular remodeling in repaired tetralogy of Fallot
Duong, S. Q., Vaid, A., Jiang, P., Bitterman, Y., Krishnamurthy, Y., Chiu, I. M., Finer, J., Cleary, B., Glicksberg, B. S., Garg, R., DiLorenzo, M., Friedberg, M., Zahn, E., Lewis, M., Satzer, M., Ouyang, D., Elias, P., Geva, T., Ghelani, S. & Anderson, B. R. & 4 others, , 1 Mar 2026, In: European Heart Journal - Digital Health. 7, 2, ztag015.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
DNASE1L3 Deficiency With Novel Missense Variant: Enzymatic and Plasma Fragmentomic Evidence of Pathogenicity and Partial Response to JAK Blockade
Undiagnosed Diseases Network, Feb 2026, In: ACR Open Rheumatology. 8, 2, e70184.Research output: Contribution to journal › Article › peer-review
Open Access -
Drivers of Diagnostic Delay in Mitochondrial Disease: Missed Recognition of Canonical Features
Tinker, R. J., Jacob, N., Syed, M. G., Kelkar, J., Donnelly, C., Elsharkawi, I., Ganesh, J., Gelb, B. D., Pejaver, V., Kozicz, T. & Morava, E., Jan 2026, In: JIMD Reports. 67, 1, e70068.Research output: Contribution to journal › Article › peer-review
Open Access3 Scopus citations -
Ensilication preserves high-molecular weight native DNA for clinical long-read sequencing
Undiagnosed Diseases Network, Dec 2026, In: Genome Biology. 27, 1, 194.Research output: Contribution to journal › Article › peer-review
Open Access -
Identifying genes associated with obstructive congenital heart defects using a family-based genetic random field method
the National Birth Defects Prevention Study, 8 Oct 2026, In: Human Genetics and Genomics Advances. 7, 4, 100648.Research output: Contribution to journal › Article › peer-review
Open Access -
Machine learning to infer neurocognitive testing scores among adolescents and young adults with congenital heart disease
Hussain, M. A., He, S., Adams, H. R., Anagnoustou, E., Bellinger, D. C., Brueckner, M., Chung, W. K., Cleveland, J., Gelb, B. D., Goldmuntz, E., Hagler, D. J., Huang, H., McQuillen, P., Miller, T. A., Norris-Brilliant, A., Porter, G. A., Thomas, N., Tivarus, M. E., Xu, D. & Shen, Y. & 4 others, , Dec 2026, In: Communications Medicine. 6, 1, 144.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
Mosaic loss of Y chromosome associates with lung function, emphysema, and epigenetic aging
NHLBI Trans-Omics for Precision Medicine Consortium, Jul 2026, In: American Journal of Respiratory and Critical Care Medicine. 212, 7, p. 1483-1494 12 p.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
Pediatric Genomic Medicine—rapid progress, but not too fast: American Pediatric Society’s 2026 John Howland Award Lecture
Gelb, B. D., 2026, (Accepted/In press) In: Pediatric Research.Research output: Contribution to journal › Article › peer-review
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Prothrombin G20210A and Factor V Leiden Variants Are Not Associated With Thrombotic Events in Congenital Heart Disease: An Observational Trial
on behalf of the Pediatric Cardiac Genomics Consortium Investigators, 2026, In: Journal of the American Heart Association. 15, 6, p. 1-5 5 p., e046959.Research output: Contribution to journal › Article › peer-review
Open Access
Press/Media
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Carlsbad navy family turns to AI in search for treatment for daughter with rare genetic disorder
31/08/26
1 item of Media coverage
Press/Media
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Carlsbad Navy Baby Given 20% Odds Now Fights On With AI-Built Gene Therapy Hope
31/08/26
1 item of Media coverage
Press/Media
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AI-powered ECG could help guide lifelong heart monitoring for patients with repaired tetralogy of fallot
Mayourian, J., Nadkarni, G., Glicksberg, B., Duong, S. Q., Anderson, B. & Jiang, P.
8/04/26 → 9/04/26
2 items of Media coverage
Press/Media
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Studies from Icahn School of Medicine at Mount Sinai Describe New Findings in Artificial Intelligence (Development and multicentre validation of an artificial intelligence electrocardiogram model for ventricular remodeling in repaired tetralogy ...)
Glicksberg, B., Duong, S. Q. & Jiang, P.
4/03/26
1 item of Media coverage
Press/Media
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AI-powered ECG could help guide lifelong heart monitoring for patients with repaired tetralogy of fallot
18/02/26 → 20/02/26
7 items of Media coverage
Press/Media
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AI-Driven ECG Technology Promises Enhanced Lifelong Heart Monitoring for Patients with Repaired Tetralogy of Fallot
19/02/26
2 items of Media coverage
Press/Media
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Mount Sinai Health System Receives $8.5 Million NIH Grant Renewal to Advance Research on Long-Term Outcomes in Children With Congenital Heart Disease
7/01/26 → 8/01/26
4 items of Media coverage
Press/Media
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Reports from Icahn School of Medicine at Mount Sinai Advance Knowledge in Artificial Intelligence (Integration of Artificial Intelligence and Wearable Devices in Pediatric Clinical Care: A Review)
Nadkarni, G., Gangadharan, S., Glicksberg, B., Charney, A. & Holmes, E.
2/01/26
1 item of Media coverage
Press/Media
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New Congenital Heart Disease Data Have Been Reported by Researchers at Icahn School of Medicine at Mount Sinai (Comparison of single-source cardiac CT and CMR quantified ventricular volumes and function in congenital heart disease)
Rajagopal, H., Larocca, G., Cohen, J., Love, B., Jacobi, A., Pass, R., Stern, K., Duong, S. Q. & Hopkins, K.
22/12/25
1 item of Media coverage
Press/Media
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American Pediatric Society Announces Bruce D. Gelb, MD, as Recipient of Its Prestigious 2026 APS John Howland Award
29/10/25
2 items of Media coverage
Press/Media
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American Pediatric Society Honors Bruce D. Gelb, MD with 2026 APS John Howland Award
29/10/25
2 items of Media coverage
Press/Media