Center for Translational Genomics

196 Citations
4 h-index
21 Article
2 Editorial
2 Review article
1 Comment/debate
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Cardiac Arrest in a Young Soccer Player With a Pathogenic SCN5A Variant
Sigal, I. R., Power, J., Kontorovich, A. R. & Musikantow, D., 15 Jul 2026, In: JACC: Case Reports. 31, 28, 108906.
Research output: Contribution to journal › Article › peer-review
Early-Onset Vitreous and Cardiac Amyloidosis With TTR Trp61Leu
Li, E., Liao, S. L., Trivieri, M. G., Gorevic, P., Fettig, V., Lala, A., Sheyman, A., Shin, S., Abul-Husn, N. S. & Kontorovich, A. R., 17 Jun 2026, In: JACC: Case Reports. 31, 24, 108337.
Research output: Contribution to journal › Article › peer-review

Open Access
Healthcare professionals’ experiences returning monogenic, polygenic, and integrated risk results in the eMERGE study
Suckiel, S. A., Golfinopoulos, L., Scherr, C. L., Boyd, B. M., Chung, W. K., Hakonarson, H., Holm, I. A., Kullo, I. J., Limdi, N. A., Murray, M. F., Myers, M. F., Prows, C. A., Sabatello, M., Wiesner, G. L., Kenny, E. E. & Abul-Husn, N. S., 15 Jan 2026, In: Human Genetics and Genomics Advances. 7, 1, 100554.
Research output: Contribution to journal › Article › peer-review

Open Access
Return of genome-informed risk-assessment results for common conditions to 23,840 adults and children: An eMERGE network study
Lawson, L. P., Prows, C. A., Cortopassi, J., Davis, K. W., Head, M., Martin, L. J., Perez, E. F., Sobowale, A., Abul-Husn, N. S., Bangash, H., Bland, H. T., Bonini, K. E., Chisholm, R. L., Chung, W. K., Cimino, J. J., Connolly, J. J., Crosslin, D. R., Freimuth, R. R., Goff, B. & Gordon, A. S. & 50 others, Hakonarson, H., Harr, M. H., Henricks, E., Hernandez, V., Hoell, C., Holm, I. A., Hripcsak, G., Karlson, E. W., Kenny, E. E., Khan, A., Kiryluk, K., Kottyan, L. C., Lennon, N. J., Limdi, N., Linder, J. E., Liu, C., Manolio, T. A., Maradik, M. A., Marathe, P. N., Maripuri, D. P., McNally, E. M., Murphy, S. N., Naderian, M., Namjou, B., Odgis, J. A., Peterson, J. F., Pineda-Alvarez, D. E., Puckelwartz, M., Purcell, J., Rasmussen-Torvik, L. J., Roden, D. M., Rosenthal, E. A., Rowley, R., Sabatello, M., Scherr, C. L., Shaibi, G. Q., Sharp, R. R., Smoller, J. W., Sterling, R., Suckiel, S. A., Terek, S., Ting, Y. L., Velez Edwards, D. R., Walunas, T. L., Wei, W. Q., Weng, C., Wiesner, G. L., Xian, S., Jarvik, G. P. & Kullo, I., 2 Apr 2026, In: American Journal of Human Genetics. 113, 4, p. 678-691 14 p.
Research output: Contribution to journal › Article › peer-review

Open Access
1 Scopus citations
The Electronic Medical Records and Genomics study: Design and analytic framework for assessing the impact of genome-informed risk assessments
Limdi, N., Beasley, T. M., Cortopassi, J., Davis, B., Bangash, H., Chen, J., Chisholm, R. L., Chung, W. K., Cimino, J. J., Connolly, J., Crosslin, D. R., Davis, K. W., DiVietro, A., Esplin, E. D., Freimuth, B., Gordon, A., Hakonarson, H., Hamed, M., He, M. & Hoell, C. & 55 others, Holm, I., Hripscak, G., Irvin, M. R., Jarvik, G. P., Karavite, D., Karlson, E. W., Kenny, E. E., Khan, A., Kiryluk, K., Knerr, S., Korf, B., Kottyan, L., Kullo, I., Larkin, K., Lennon, N., Linder, J. E., Manolio, T., Martin, L. J., McNally, E. M., Morse, J., Murphy, S., Namjou, B., Odgis, J. A., Orlando, L., Pacheco, J., Peterson, J. F., Pineda-Alvarez, D. E., Prows, C., Puckelwartz, M., Purcell, J., Rasmussen-Torvik, L., Rehm, H., Roden, D. M., Rosenthal, E. A., Rowley, R., Sabatello, M., Schaid, D., Sharp, R., Smith, J. L., Smoller, J. W., Soper, E. R., Sterling, R., Suckiel, S. A., Terek, S., Thayer, J., Ting, Y. L., Tiwari, H., Velez-Edwards, D., Wagholikar, K. B., Walunas, T., Wei, W. Q., Weng, C., Wiesner, G., Abul-Husn, N. S. & Veenstra, D. L., 2 Apr 2026, In: American Journal of Human Genetics. 113, 4, p. 664-677 14 p.
Research output: Contribution to journal › Article › peer-review

Open Access
1 Scopus citations
Too high and too loose: dysautonomia and the hypertensive paradox in hypermobility disorders
Johnson, J. W., Mirro, I. & Kontorovich, A. R., Jul 2026, In: Current Opinion in Cardiology. 41, 4, 266.
Research output: Contribution to journal › Article › peer-review
Utilization of current ACC/AHA genetic testing recommendations for thoracic aortic disease at a large adult aortic center
Jabagi, H., Shaw, R. E., Kontorovich, A. R., Alemany, V. S., Ciallella, C., Burns, P. & Grau, J. B., Apr 2026, In: Genetics in Medicine. 28, 4, 102069.
Research output: Contribution to journal › Article › peer-review

Open Access
2024 ACC Expert Consensus Decision Pathway on Strategies and Criteria for the Diagnosis and Management of Myocarditis: A Report of the American College of Cardiology Solution Set Oversight Committee
Drazner, M. H., Bozkurt, B., Cooper, L. T., Aggarwal, N. R., Basso, C., Bhave, N. M., Caforio, A. L. P., Ferreira, V. M., Heidecker, B., Kontorovich, A. R., Martín, P., Roth, G. A. & Van Eyk, J. E., 4 Feb 2025, In: Journal of the American College of Cardiology. 85, 4, p. 391-431 41 p.
Research output: Contribution to journal › Article › peer-review

Open Access

151 Scopus citations
Clinical and Genomic Prediction of Coronary Artery Disease Subtypes
Liou, L., García-González, J., Wu, H. M., Wang, Z., Hoggart, C. J., Kontorovich, A. R., Kovacic, J. C. & O'reilly, P. F., 1 Jan 2025, In: Arteriosclerosis, Thrombosis, and Vascular Biology. 45, 1, p. 90-103 14 p.
Research output: Contribution to journal › Article › peer-review

Open Access
7 Scopus citations
Evolving knowledge of red flag clinical features associated with TTR p.(Val142Ile) in a diverse electronic health-record-linked biobank
Kontorovich, A. R., Benson, C. B., McClellan, A., Belbin, G. M., Kenny, E. E. & Abul-Husn, N. S., Mar 2025, In: Genetics in Medicine. 27, 3, 101346.
Research output: Contribution to journal › Article › peer-review

Open Access
4 Scopus citations
Genomic sequencing in diverse and underserved pediatric populations: Parent perspectives on understanding, uncertainty, psychosocial impact, and personal utility of results
Biesecker, B. B., Ackerman, S. L., Brothers, K. B., East, K. M., Foreman, A. K. M., Hindorff, L. A., Horowitz, C. R., Jarvik, G. P., Knight, S. J., Leo, M. C., Patrick, D. L., Rini, C., Robinson, J. O., Sahin-Hodoglugil, N. N., Slavotinek, A., Suckiel, S. A., Veenstra, D. L., Zinberg, R. E. & Hunter, J. E., Apr 2025, In: Genetics in Medicine. 27, 4, 101363.
Research output: Contribution to journal › Article › peer-review

Open Access
3 Scopus citations
Implementing integrated genomic risk assessments for breast cancer: lessons learned from the Electronic Medical Records and Genomics study
Liu, C., Crew, K. D., Morse, J., Linder, J. E., Antoniou, A. C., Carver, T., Cortopassi, J., Peterson, J. F., Ta, C. N., Hoell, C., Prows, C., Kenny, E. E., Miller, E., Perez, E., Jarvik, G. P., Bland, H. T., Odgis, J. A., Mittendorf, K. F., Bonini, K. E. & McGuffin, K. & 15 others, Kottyan, L. C., Maradik, M., Limdi, N., Abul-Husn, N. S., Marathe, P. N., Suckiel, S. A., Aguilar, S., Lewis, T. J., Wei, W. Q., Luo, Y., Freimuth, R. R., Hakonarson, H., Weng, C., Chung, W. K. & Wiesner, G. L., 1 Oct 2025, In: JAMIA Open. 8, 5, ooaf113.
Research output: Contribution to journal › Article › peer-review

Open Access
1 Scopus citations

Study Results from Icahn School of Medicine at Mount Sinai Broaden Understanding of Dysautonomia (Too High and Too Loose: Dysautonomia and the Hypertensive Paradox In Hypermobility Disorders)
Kontorovich, A.
3/07/26
1 item of Media coverage
Press/Media
Research Conducted at Icahn School of Medicine at Mount Sinai Has Updated Our Knowledge about Amyloidosis (Early-Onset Vitreous and Cardiac Amyloidosis With TTR Trp61Leu)
Trivieri, M., Gorevic, P., Lala-Trindade,, A., Liao, S., Abul-Husn, N., Kontorovich, A. & Shin, S.
25/05/26
1 item of Media coverage
Press/Media
Study Results from University of California Los Angeles (UCLA) Broaden Understanding of Science (Investigating the sources of variable impact of pathogenic variants in monogenic metabolic conditions)
Kenny, E.
19/06/25
1 item of Media coverage
Press/Media
Reports from Icahn School of Medicine at Mount Sinai Add New Data to Findings in Telemedicine (Investigating the Impact of Screen-sharing Visual Aids During Genomic Results Disclosure Via Telehealth In Diverse Families In the Telekidseq Pilot ...)
Odgis, J., Kenny, E., Zinberg, R., Horowitz, C., Wasserstein, M., Diaz, G., Abul-Husn, N., Gelb, B. & Bonini, K.
17/03/25
1 item of Media coverage
Press/Media
Data on Heart Failure Reported by Researchers at Icahn School of Medicine at Mount Sinai [Evolving Knowledge of Red Flag Clinical Features Associated With ttr p.(Val142ile) In a Diverse Electronic Health-record-linked Biobank]
Kenny, E., Abul-Husn, N., Kontorovich, A., Gillian, G. & Belbin, G.
3/03/25
1 item of Media coverage
Press/Media
New Health and Medicine Findings Has Been Reported by Investigators at Icahn School of Medicine at Mount Sinai (Employing Effective Recruitment and Retention Strategies To Engage a Diverse Pediatric Population In Genomics Research)
Odgis, J., Wolf, S., Kenny, E., Zinberg, R., Horowitz, C., Wasserstein, M., Diaz, G., Abul-Husn, N., Cunningham-Rundles, C., Gelb, B., Bonini, K. & Ferket, B.
22/01/25
1 item of Media coverage
Press/Media
Researchers from Icahn School of Medicine at Mount Sinai Detail Findings in Genetic Risk (Rare variant contribution to the heritability of coronary artery disease)
Kenny, E., Rocheleau, G. & Becker, C.
30/10/24
1 item of Media coverage
Press/Media
Report Summarizes Genomics and Genetics Study Findings from Icahn School of Medicine at Mount Sinai [Physician and Informal Care Use Explained By the Pediatric Quality of Life Inventory (Pedsql) In Children With Suspected Genetic Disorders]
Kenny, E., Horowitz, C., Wasserstein, M., Abul-Husn, N., Gelb, B. & Ferket, B.
10/06/24
1 item of Media coverage
Press/Media
Recent Findings in Chronic Disease Described by Researchers from Broad Institute (Selection, Optimization and Validation of Ten Chronic Disease Polygenic Risk Scores for Clinical Implementation In Diverse Us Populations)
Smit, R. & Kenny, E.
22/03/24
1 item of Media coverage
Press/Media
Studies from Icahn School of Medicine at Mount Sinai Add New Findings in the Area of Life Science (The Nyckidseq Randomized Controlled Trial: Impact of Gui a Digitally Enhanced Genetic Results Disclosure In Diverse Families)
Odgis, J., Kenny, E., Zinberg, R., Horowitz, C., Wasserstein, M., Diaz, G., Abul-Husn, N., Gelb, B. & Bonini, K.
30/01/24
1 item of Media coverage
Press/Media
Data on Life Science Reported by Researchers at Icahn School of Medicine at Mount Sinai (Physician Services and Costs After Disclosure of Diagnostic Sequencing Results In the Nyckidseq Program)
Odgis, J., Kenny, E., Horowitz, C., Wasserstein, M., Abul-Husn, N., Rhodes, R., Gelb, B., Bonini, K. & Ferket, B.
23/01/24
1 item of Media coverage
Press/Media

Center for Translational Genomics

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Collaborations and top research areas from the last five years

Dive into details

Eimear Kenny

Amy Kontorovich

Cardiac Arrest in a Young Soccer Player With a Pathogenic SCN5A Variant

Early-Onset Vitreous and Cardiac Amyloidosis With TTR Trp61Leu

Healthcare professionals’ experiences returning monogenic, polygenic, and integrated risk results in the eMERGE study

Return of genome-informed risk-assessment results for common conditions to 23,840 adults and children: An eMERGE network study

The Electronic Medical Records and Genomics study: Design and analytic framework for assessing the impact of genome-informed risk assessments

Too high and too loose: dysautonomia and the hypertensive paradox in hypermobility disorders

Utilization of current ACC/AHA genetic testing recommendations for thoracic aortic disease at a large adult aortic center

2024 ACC Expert Consensus Decision Pathway on Strategies and Criteria for the Diagnosis and Management of Myocarditis: A Report of the American College of Cardiology Solution Set Oversight Committee

Clinical and Genomic Prediction of Coronary Artery Disease Subtypes

Evolving knowledge of red flag clinical features associated with TTR p.(Val142Ile) in a diverse electronic health-record-linked biobank

Genomic sequencing in diverse and underserved pediatric populations: Parent perspectives on understanding, uncertainty, psychosocial impact, and personal utility of results

Implementing integrated genomic risk assessments for breast cancer: lessons learned from the Electronic Medical Records and Genomics study

Study Results from Icahn School of Medicine at Mount Sinai Broaden Understanding of Dysautonomia (Too High and Too Loose: Dysautonomia and the Hypertensive Paradox In Hypermobility Disorders)

Research Conducted at Icahn School of Medicine at Mount Sinai Has Updated Our Knowledge about Amyloidosis (Early-Onset Vitreous and Cardiac Amyloidosis With TTR Trp61Leu)

Study Results from University of California Los Angeles (UCLA) Broaden Understanding of Science (Investigating the sources of variable impact of pathogenic variants in monogenic metabolic conditions)

Reports from Icahn School of Medicine at Mount Sinai Add New Data to Findings in Telemedicine (Investigating the Impact of Screen-sharing Visual Aids During Genomic Results Disclosure Via Telehealth In Diverse Families In the Telekidseq Pilot ...)

Data on Heart Failure Reported by Researchers at Icahn School of Medicine at Mount Sinai [Evolving Knowledge of Red Flag Clinical Features Associated With ttr p.(Val142ile) In a Diverse Electronic Health-record-linked Biobank]

New Health and Medicine Findings Has Been Reported by Investigators at Icahn School of Medicine at Mount Sinai (Employing Effective Recruitment and Retention Strategies To Engage a Diverse Pediatric Population In Genomics Research)

Researchers from Icahn School of Medicine at Mount Sinai Detail Findings in Genetic Risk (Rare variant contribution to the heritability of coronary artery disease)

Report Summarizes Genomics and Genetics Study Findings from Icahn School of Medicine at Mount Sinai [Physician and Informal Care Use Explained By the Pediatric Quality of Life Inventory (Pedsql) In Children With Suspected Genetic Disorders]

Recent Findings in Chronic Disease Described by Researchers from Broad Institute (Selection, Optimization and Validation of Ten Chronic Disease Polygenic Risk Scores for Clinical Implementation In Diverse Us Populations)

Studies from Icahn School of Medicine at Mount Sinai Add New Findings in the Area of Life Science (The Nyckidseq Randomized Controlled Trial: Impact of Gui a Digitally Enhanced Genetic Results Disclosure In Diverse Families)

Data on Life Science Reported by Researchers at Icahn School of Medicine at Mount Sinai (Physician Services and Costs After Disclosure of Diagnostic Sequencing Results In the Nyckidseq Program)

Center for Translational Genomics

Fingerprint

Collaborations and top research areas from the last five years

Profiles

Research output

Press/Media