Institute for Genomic Health

Icahn School of Medicine at Mount Sinai

Email[email protected]
Websitehttps://icahn.mssm.edu/research/institute-genomic-health

Postal addressShow on map
1 Gustave Levy Place, Box 1041
10029 New York, NY
United States

Center for Translational Genomics
Institute for Genomic Health
Organizational unit: Center

Noura Abul-Husn
- noura.abulhusnmssmedu
Person
20022026
Samira Asgari
Person
20162025
Eimear Kenny
Person: Academic
20032026
Amy Kontorovich
Person: Academic
20112025
Chelsea Lowther
- Icahn School of Medicine at Mount Sinai
- Institute for Genomic Health
Person
20132025
Michael Murray
Person
20012026
Paul O'Reilly
Person
20112020
Gita Pathak
- Institute for Genomic Health
Person
20182025
Vikas Pejaver
Person
20102026
Emily Soper
Person
20172023
Sabrina Suckiel
Person: Academic
20152026

18135 Citations
55 h-index
181 Article
20 Comment/debate
16 Review article
10 Chapter
More

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
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
The IGVF catalog—from genetic variation to function
Li, D., Liu, S., Assis, P. R., Li, M., Dong, S., Whaling, I., Jolanki, O., Kagda, M., Zhang, W., Macias-Velasco, J. F., Liu, T., Cody, S., Antonacci-Fulton, L., Huang, Y., Liu, J., Montgomery, M. T., Zeiberg, D., Jain, S., Pejaver, V. & Bergquist, T. & 27 others, Chen, Y., Radivojac, P., Gersbach, C. A., Sherpa, R. N., Castro, C. P., Boyle, A. P., Starita, L. M., Fowler, D. M., Ahituv, N., Dey, K. K., Majoros, W. H., Reddy, T. E., Craven, M., Sinha, R., Sverchkov, Y., Cai, X., Nzima, M. Z., Calderwood, M. A., Rozowsky, J., Gerstein, M., Ma, J., Yue, F., Cherry, M. M., Love, M. I., Engreitz, J. M., Hitz, B. C. & Wang, T., 6 Jan 2026, In: Nucleic Acids Research. 54, 1, p. D1437-D1445
Research output: Contribution to journal › Article › peer-review

Open Access
1 Scopus citations
Viewing direct-to-consumer genetic test results for depression risk is psychologically well tolerated: Evidence from a longitudinal equivalence study
Berns, R. M. K., Dhamija, D., Coker, D., Robertson, C. L., Wen, J., Wu, R. R., Holmes, M. V. & Abul-Husn, N. S., 15 Jan 2026, In: Human Genetics and Genomics Advances. 7, 1, 100553.
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

90 Scopus citations
ACMG SF v3.3 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)
ACMG Secondary Findings Working Group, Aug 2025, In: Genetics in Medicine. 27, 8, 101454.
Research output: Contribution to journal › Article › peer-review

11 Scopus citations
Advancing the science of genomic learning healthcare systems
Manolio, T. A., Rider, R., Bult, C. J., Chisholm, R. L., Deverka, P. A., Ginsburg, G. S., Green, E. D., Jarvik, G. P., Mensah, G. A., Narula, J., Ramos, E. M., Relling, M. V., Roden, D. M., Rowley, R., Abul-Husn, N. S., Buchanan, A. H., Chute, C. G., Del Fiol, G., Elhanan, G. & Haga, S. B. & 19 others, Hamid, R., Horowitz, C. R., Hulick, P. J., James, C. A., Jeff, J. M., Korf, B., Landry, L., McGraw, D., McLeod, H. L., Mendelsohn, N. J., Osterman, T., Taylor, C. O., Pritchard, D., Rehm, H. L., Tsosie, K. S., Vassy, J. L., Watson, K., Wiley, K. & Williams, M. S., Oct 2025, In: Learning Health Systems. 9, 4, e70027.
Research output: Contribution to journal › Comment/debate

Open Access
Alzheimer's disease genetic risk: Top African American risk allele frequencies and genetic architecture among Mexican-, African-, and non-Hispanic White Americans
For the HABS-HD Study Team, 1 Apr 2025, In: Alzheimer's and Dementia: Translational Research and Clinical Interventions. 11, 2, e70124.
Research output: Contribution to journal › Article › peer-review

Open Access
Basic Science and Pathogenesis
Debnath, D., Housini, M., Phillips, N., Barber, R. & Pathak, G., 1 Dec 2025, In: Alzheimer's and Dementia. 21, p. e104913
Research output: Contribution to journal › Article › peer-review

Open Access
Biomarkers
Pathak, G., Subasinghe, K., Barber, R. & Phillips, N., 1 Dec 2025, In: Alzheimer's and Dementia. 21, p. e099096
Research output: Contribution to journal › Article › peer-review

Open Access
CAGI6 ID panel challenge: assessment of phenotype and variant predictions in 415 children with neurodevelopmental disorders (NDDs)
Aspromonte, M. C., Del Conte, A., Zhu, S., Tan, W., Shen, Y., Zhang, Y., Li, Q., Wang, M. H., Babbi, G., Bovo, S., Martelli, P. L., Casadio, R., Althagafi, A., Toonsi, S., Kulmanov, M., Hoehndorf, R., Katsonis, P., Williams, A., Lichtarge, O. & Xian, S. & 9 others, Surento, W., Pejaver, V., Mooney, S. D., Sunderam, U., Srinivasan, R., Murgia, A., Piovesan, D., Tosatto, S. C. E. & Leonardi, E., Mar 2025, In: Human Genetics. 144, 2, p. 227-242 16 p.
Research output: Contribution to journal › Article › peer-review

Open Access
1 Scopus citations
Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria
ClinGen Sequence Variant Interpretation Working Group, Jun 2025, In: Genetics in Medicine. 27, 6, 101402.
Research output: Contribution to journal › Article › peer-review

Open Access
15 Scopus citations

Researchers at Icahn School of Medicine at Mount Sinai Describe Findings in Genetics and Genomics (Healthcare professionals' experiences returning monogenic, polygenic, and integrated risk results in the eMERGE study)
Suckiel, S. & Murray, M.
23/12/25
1 item of Media coverage
Press/Media
Studies from Devika Dhamija et al Further Understanding of Anxiety Disorders (Viewing Direct-to-Consumer Genetic Test Results for Depression Risk Is Psychologically Well Tolerated: Evidence from a Longitudinal Equivalence Study)
Abul-Husn, N.
23/12/25
1 item of Media coverage
Press/Media
Minority health researchers walk tightrope amid NIH funding cuts
Asgari, S.
8/11/25
7 items of Media coverage
Press/Media
Icahn School of Medicine at Mount Sinai Researchers Provide Details of New Studies and Findings in the Area of Genetics (Patient and providers' perspectives on using the GUIA digital tool to enhance genomic results disclosure)
Odgis, J., Suckiel, S., Kenny, E., Zinberg, R., Horowitz, C., Wasserstein, M., Diaz, G., Abul-Husn, N. & Gelb, B.
10/10/25
1 item of Media coverage
Press/Media
Polygenic and developmental profiles of autism differ by age at diagnosis
Aaronson, C. J., Davis, K. L., Yehuda, R., Daskalakis, N., Feder, A., Stein, D., Kaufman, L. & Pathak, G.
2/10/25
1 item of Media coverage
Press/Media
New Findings on Alzheimer Disease Discussed by Researchers at Icahn School of Medicine at Mount Sinai (Leveraging multiomic approaches to elucidate mechanisms of heterogeneity in Alzheimer's disease: Neuropsychiatric symptoms, co-pathologies, ...)
Pathak, G.
30/09/25
1 item of Media coverage
Press/Media
New Findings from Yale University in the Area of Traumatic Stress Disorders Described (Shared Genetic Architecture of Posttraumatic Stress Disorder With Cardiovascular Imaging, Risk, and Diagnoses)
Pathak, G.
1/08/25
1 item of Media coverage
Press/Media
Movies playing in Southeast Michigan, new releases July 11
Murray, M.
9/07/25
7 items of Media coverage
Press/Media
Studies from Yale University Further Understanding of Alzheimer Disease (Sex Differences In the Confounders Influencing the Relationships Linking Socioeconomic Factors and Cognitive Performance With Family History of Alzheimer's Disease and ...)
Pathak, G.
8/07/25
1 item of Media coverage
Press/Media
Movies playing in Southeast Michigan, new releases July 2
Murray, M.
2/07/25
7 items of Media coverage
Press/Media
Q2/2025: Monthly: Corcept Therapeutics (CORT: $73.40) shares post best quarter in three quarters
Fuster, V., Murray, M. & Bhatt, D. L.
1/07/25
1 item of Media coverage
Press/Media
Movies playing in Southeast Michigan, new releases June 27
Murray, M.
25/06/25
7 items of Media coverage
Press/Media

Institute for Genomic Health

Fingerprint

Collaborations and top research areas from the last five years

Dive into details

Center for Translational Genomics

Noura Abul-Husn

Samira Asgari

Eimear Kenny

Amy Kontorovich

Chelsea Lowther

Michael Murray

Paul O'Reilly

Gita Pathak

Vikas Pejaver

Emily Soper

Sabrina Suckiel

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

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

The IGVF catalog—from genetic variation to function

Viewing direct-to-consumer genetic test results for depression risk is psychologically well tolerated: Evidence from a longitudinal equivalence study

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

ACMG SF v3.3 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)

Advancing the science of genomic learning healthcare systems

Alzheimer's disease genetic risk: Top African American risk allele frequencies and genetic architecture among Mexican-, African-, and non-Hispanic White Americans

Basic Science and Pathogenesis

Biomarkers

CAGI6 ID panel challenge: assessment of phenotype and variant predictions in 415 children with neurodevelopmental disorders (NDDs)

Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria

Researchers at Icahn School of Medicine at Mount Sinai Describe Findings in Genetics and Genomics (Healthcare professionals' experiences returning monogenic, polygenic, and integrated risk results in the eMERGE study)

Studies from Devika Dhamija et al Further Understanding of Anxiety Disorders (Viewing Direct-to-Consumer Genetic Test Results for Depression Risk Is Psychologically Well Tolerated: Evidence from a Longitudinal Equivalence Study)

Minority health researchers walk tightrope amid NIH funding cuts

Icahn School of Medicine at Mount Sinai Researchers Provide Details of New Studies and Findings in the Area of Genetics (Patient and providers' perspectives on using the GUIA digital tool to enhance genomic results disclosure)

Polygenic and developmental profiles of autism differ by age at diagnosis

New Findings on Alzheimer Disease Discussed by Researchers at Icahn School of Medicine at Mount Sinai (Leveraging multiomic approaches to elucidate mechanisms of heterogeneity in Alzheimer's disease: Neuropsychiatric symptoms, co-pathologies, ...)

New Findings from Yale University in the Area of Traumatic Stress Disorders Described (Shared Genetic Architecture of Posttraumatic Stress Disorder With Cardiovascular Imaging, Risk, and Diagnoses)

Movies playing in Southeast Michigan, new releases July 11

Studies from Yale University Further Understanding of Alzheimer Disease (Sex Differences In the Confounders Influencing the Relationships Linking Socioeconomic Factors and Cognitive Performance With Family History of Alzheimer's Disease and ...)

Movies playing in Southeast Michigan, new releases July 2

Q2/2025: Monthly: Corcept Therapeutics (CORT: $73.40) shares post best quarter in three quarters

Movies playing in Southeast Michigan, new releases June 27

Institute for Genomic Health

Fingerprint

Collaborations and top research areas from the last five years

Research units

Profiles

Research output

Press/Media