Center for Artificial Intelligence in Children’s Health

1008 Citations
11 h-index
32 Article
2 Review article
1 Chapter
1 Comment/debate

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, 2026, (Accepted/In press) In: Nature Methods.
Research output: Contribution to journal › Article › peer-review
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, Zaidi, A., Wald, R. M., Nadkarni, G. N. & Mayourian, J., 1 Mar 2026, In: European Heart Journal - Digital Health. 7, 2, ztag015.
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 Access
Rapid Genome Sequencing Compared with a Gene Panel in Critically Ill Infants with a Suspected Genetic Disorder: An Economic Evaluation
Lavelle, T. A., Maron, J. L., Kingsmore, S. F., Lin, C. H., Zhu, Y., Sweigart, B., Reed, D., Gelb, B. D., Vockley, J. & Davis, J. M., Feb 2026, In: Journal of Pediatrics. 289, 114889.
Research output: Contribution to journal › Article › peer-review
AI models in clinical neonatology: a review of modeling approaches and a consensus proposal for standardized reporting of model performance
Husain, A., Knake, L., Sullivan, B., Barry, J., Beam, K., Holmes, E., Hooven, T., McAdams, R., Moreira, A., Shalish, W. & Vesoulis, Z., Aug 2025, In: Pediatric Research. 98, 2, p. 412-422 11 p.
Research output: Contribution to journal › Article › peer-review
8 Scopus citations
An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser
Undiagnosed Diseases Network, Dec 2025, In: Genome Medicine. 17, 1, 127.
Research output: Contribution to journal › Article › peer-review

Open Access
2 Scopus citations
Associations between pathophysiological traits and symptom development in retrospective analysis of V30M and V122I transthyretin amyloidosis
Kini, S. U., My Thi Vy, H., Subramanian, M., Krishnamoorthy, P. M., Duong, S. Q., Rocheleau, G., Narula, J., Do, R. & Nadkarni, G. N., Jun 2025, In: IJC Heart and Vasculature. 58, 101663.
Research output: Contribution to journal › Article › peer-review

Open Access
Comparison of single-source cardiac CT and CMR quantified ventricular volumes and function in congenital heart disease
Patel, N., Cohen, J., Rajagopal, H. G., Barris, D. M., Stern, K. W. D., Choueiter, N. F., Hopkins, K. A., LaRocca, G., Jacobi, A., Love, B., Pass, R. H., Zaidi, A. N. & Duong, S. Q., 1 Nov 2025, In: Journal of Cardiovascular Computed Tomography. 19, 6, p. 779-788 10 p.
Research output: Contribution to journal › Article › peer-review

Open Access
Correction to: The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder (The American Journal of Human Genetics, (2023), 110, 6, (963-978), (S0002929723001325), 10.1016/j.ajhg.2023.04.008)
Rots, D., Jakub, T. E., Keung, C., Jackson, A., Banka, S., Pfundt, R., de Vries, B. B. A., van Jaarsveld, R. H., Hopman, S. M. J., van Binsbergen, E., Valenzuela, I., Hempel, M., Bierhals, T., Kortüm, F., Lecoquierre, F., Goldenberg, A., Hertz, J. M., Andersen, C. B., Kibæk, M. & Prijoles, E. J. & 97 others, Stevenson, R. E., Everman, D. B., Patterson, W. G., Meng, L., Gijavanekar, C., De Dios, K., Lakhani, S., Levy, T., Wagner, M., Wieczorek, D., Benke, P. J., Lopez Garcia, M. S., Perrier, R., Sousa, S. B., Almeida, P. M., Simões, M. J., Isidor, B., Deb, W., Schmanski, A. A., Abdul-Rahman, O., Philippe, C., Bruel, A. L., Faivre, L., Vitobello, A., Thauvin, C., Smits, J. J., Garavelli, L., Caraffi, S. G., Peluso, F., Davis-Keppen, L., Platt, D., Royer, E., Leeuwen, L., Sinnema, M., Stegmann, A. P. A., Stumpel, C. T. R. M., Tiller, G. E., Bosch, D. G. M., Potgieter, S. T., Joss, S., Splitt, M., Holden, S., Prapa, M., Foulds, N., Douzgou, S., Puura, K., Waltes, R., Chiocchetti, A. G., Freitag, C. M., Satterstrom, F. K., De Rubeis, S., Buxbaum, J., Gelb, B. D., Branko, A., Kushima, I., Howe, J., Scherer, S. W., Arado, A., Baldo, C., Patat, O., Bénédicte, D., Lopergolo, D., Santorelli, F. M., Haack, T. B., Dufke, A., Bertrand, M., Falb, R. J., Rieß, A., Krieg, P., Spranger, S., Bedeschi, M. F., Iascone, M., Josephi-Taylor, S., Roscioli, T., Buckley, M. F., Liebelt, J., Dagli, A. I., Aten, E., Hurst, A. C. E., Hicks, A., Suri, M., Aliu, E., Naik, S., Sidlow, R., Coursimault, J., Nicolas, G., Küpper, H., Petit, F., Ibrahim, V., Top, D., Di Cara, F., Louie, R. J., Stolerman, E., Brunner, H. G., Vissers, L. E. L. M., Kramer, J. M. & Kleefstra, T., 6 Nov 2025, In: American Journal of Human Genetics. 112, 11, p. 2814 1 p.
Research output: Contribution to journal › Comment/debate

Open Access
Deficiency of the Fanconi anemia core complex protein FAAP100 results in severe Fanconi anemia
Harrison, B. A., Mizrahi-Powell, E., Pappas, J., Thomas, K., Vasishta, S., Hebbar, S., Shukla, A., Nayak, S. S., Truong, T. K., Woroch, A., Kharbutli, Y., Gelb, B. D., Mintz, C. S., Evrony, G. D. & Smogorzewska, A., 2 Jun 2025, In: Journal of Clinical Investigation. 135, 11, e185126.
Research output: Contribution to journal › Article › peer-review

Open Access
8 Scopus citations
Efficient identification of de novo mutations in family trios: a consensus-based informatic approach
Shadrina, M., Kalay, Ö., Demirkaya-Budak, S., Leduc, C. A., Chung, W. K., Turgut, D., Budak, G., Arslan, E., Semenyuk, V., Davis-Dusenbery, B., Seidman, C. E., Yost, H. J., Jain, A. & Gelb, B. D., Jun 2025, In: Life Science Alliance. 8, 6, e202403039.
Research output: Contribution to journal › Article › peer-review

Open Access
Enrichment of tandem repeat element variants near CHD genes identified by short- and long-read genome sequencing
the Pediatric Cardiac Genomics Consortium, Dec 2025, In: BMC Medical Genomics. 18, 1, 120.
Research output: Contribution to journal › Article › peer-review

Open Access

AI-powered ECG could help guide lifelong heart monitoring for patients with repaired tetralogy of fallot
Nadkarni, G. & Duong, S. Q.
18/02/26 → 20/02/26
7 items of Media coverage
Press/Media
AI-Driven ECG Technology Promises Enhanced Lifelong Heart Monitoring for Patients with Repaired Tetralogy of Fallot
Nadkarni, G. & Duong, S. Q.
19/02/26
2 items of Media coverage
Press/Media
Mount Sinai Health System Receives $8.5 Million NIH Grant Renewal to Advance Research on Long-Term Outcomes in Children With Congenital Heart Disease
Gelb, B. & Anderson, B.
7/01/26 → 8/01/26
4 items of Media coverage
Press/Media
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., Klang, E. & Holmes, E.
2/01/26
1 item of Media coverage
Press/Media
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
Tipoffs: Awards and Recognition - Oct. 31, 2025
Gelb, B.
31/10/25
1 item of Media coverage
Press/Media
American Pediatric Society Honors Bruce D. Gelb, MD with 2026 APS John Howland Award
Nestler, E. J. & Gelb, B.
29/10/25
2 items of Media coverage
Press/Media
American Pediatric Society Announces Bruce D. Gelb, MD, as Recipient of Its Prestigious 2026 APS John Howland Award
Nestler, E. J. & Gelb, B.
29/10/25
2 items of Media coverage
Press/Media
Dr. Bruce D. Gelb Receives Prestigious 2026 APS John Howland Award from American Pediatric Society
Gelb, B.
28/10/25
2 items of Media coverage
Press/Media
American Pediatric Society honors Dr. Bruce D. Gelb with 2026 APS John Howland Award
Gelb, B.
28/10/25
1 item of Media coverage
Press/Media
HMN 2025: How AI system finds crucial clues for diagnoses in electronic health records
Nadkarni, G., Kovatch, P., Glicksberg, B., Charney, A., Hofer, I., Sakhuja, A. & Holmes, E.
25/10/25
1 item of Media coverage
Press/Media
AI System Finds Crucial Clues for Diagnoses in Electronic Health Records
Nadkarni, G., Kovatch, P., Glicksberg, B., Charney, A., Hofer, I., Sakhuja, A. & Holmes, E.
15/10/25 → 16/10/25
4 items of Media coverage
Press/Media

Center for Artificial Intelligence in Children’s Health

Fingerprint

Collaborations and top research areas from the last five years

Dive into details

Son Duong

Bruce Gelb

Benjamin Glicksberg

Emma Holmes

Girish Nadkarni

cellSTAAR: incorporating single-cell-sequencing-based functional data to boost power in rare variant association testing of noncoding regions

Development and multicentre validation of an artificial intelligence electrocardiogram model for ventricular remodeling in repaired tetralogy of Fallot

Drivers of Diagnostic Delay in Mitochondrial Disease: Missed Recognition of Canonical Features

Rapid Genome Sequencing Compared with a Gene Panel in Critically Ill Infants with a Suspected Genetic Disorder: An Economic Evaluation

AI models in clinical neonatology: a review of modeling approaches and a consensus proposal for standardized reporting of model performance

An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser

Associations between pathophysiological traits and symptom development in retrospective analysis of V30M and V122I transthyretin amyloidosis

Comparison of single-source cardiac CT and CMR quantified ventricular volumes and function in congenital heart disease

Correction to: The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder (The American Journal of Human Genetics, (2023), 110, 6, (963-978), (S0002929723001325), 10.1016/j.ajhg.2023.04.008)

Deficiency of the Fanconi anemia core complex protein FAAP100 results in severe Fanconi anemia

Efficient identification of de novo mutations in family trios: a consensus-based informatic approach

Enrichment of tandem repeat element variants near CHD genes identified by short- and long-read genome sequencing

AI-powered ECG could help guide lifelong heart monitoring for patients with repaired tetralogy of fallot

AI-Driven ECG Technology Promises Enhanced Lifelong Heart Monitoring for Patients with Repaired Tetralogy of Fallot

Mount Sinai Health System Receives $8.5 Million NIH Grant Renewal to Advance Research on Long-Term Outcomes in Children With Congenital Heart Disease

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)

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)

Tipoffs: Awards and Recognition - Oct. 31, 2025

American Pediatric Society Honors Bruce D. Gelb, MD with 2026 APS John Howland Award

American Pediatric Society Announces Bruce D. Gelb, MD, as Recipient of Its Prestigious 2026 APS John Howland Award

Dr. Bruce D. Gelb Receives Prestigious 2026 APS John Howland Award from American Pediatric Society

American Pediatric Society honors Dr. Bruce D. Gelb with 2026 APS John Howland Award

HMN 2025: How AI system finds crucial clues for diagnoses in electronic health records

AI System Finds Crucial Clues for Diagnoses in Electronic Health Records

Center for Artificial Intelligence in Children’s Health

Fingerprint

Collaborations and top research areas from the last five years

Profiles

Research output

Press/Media