Author

Kathleen D.M. Ferar

Icahn School of Medicine at Mount Sinai

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

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Genetic & Genomic Medicine· 4

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Approach:statistical model· 4 Research Focus:benchmarking· 3 Organism:human· 3 Research Focus:differential expression· 2 Research Focus:variant effect prediction· 2 Assay:whole-exome sequencing· 2 Assay:whole-genome sequencing· 2 Approach:benchmark study· 1

Frequent Co-Authors

Eimear E. KennyiD· 4 shared Anne Michele SlavotinekiD· 2 shared Bradford C. PowelliD· 2 shared David R. CrossliniD· 2 shared John M. GreallyiD· 2 shared Katherine E. BoniniiD· 2 shared Lucia A. HindorffiD· 2 shared NEIL J. RISCHiD· 2 shared

Activity by Year

2023-2026 · peak 3/yr

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10 top collaborators · 37 mutual co-author links

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4 shared papersGenetic & Genomic Medicine

Eimear E. KennyORCID

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4 papers

Recent·Most cited

A Scalable Framework to Integrate Social Determinants of Health into Disease Risk Models using Biobank Survey Data

Abhijith Biji, Kathleen D.M. Ferar, Vikas Rao Pejaver, Eimear E. Kenny, Bian Liu, Samira Asgari

This paper introduces a framework to integrate social determinants of health into disease risk models using biobank survey data, showing improved prediction beyond genetic factors.

The American Journal of Human Genetics · Jun 22, 2026Peer-reviewedGenetic & Genomic Medicine

Measuring the Meaning of Genomic Results: Harmonization of the Metric for Case-Level Results in the CSER2 Consortium

Bradford C. Powell, Laura M. Amendola, Katherine E. Bonini, David R. Crosslin, Lauren Desrosiers, Susan M. Hiatt, Lucia A. Hindorff, Eimear E. Kenny, Yusuph Mavura, Kathleen D.M. Ferar, NEIL J. RISCH, Tamara S. Roman, Anne Michele Slavotinek, Jessica Van Ziffle, Kevin M. Bowling

The paper develops a standardized case-level categorization metric for genomic results across the CSER2 consortium to assess diagnostic yield and identify resolvable factors in inconclusive cases.

medRxiv · Jun 1, 2026 · PreprintGenetic & Genomic Medicine

Determinants of DNA-sequence-based Diagnostic Yield in the CSER Consortium

Yusuph Mavura, David R. Crosslin, Kathleen D.M. Ferar, James M.J. Lawlor, John M. Greally, Lucia A. Hindorff, Gail Pairitz Jarvik, Sara E. Kalla, Barbara Ann Koenig, Mark N. Kvale, Pui–Yan Kwok, Mary E. Norton, Sharon E. Plon, Bradford C. Powell, Anne Michele Slavotinek, , NEIL J. RISCH

This study quantifies how patient-level factors and site-level practices affect diagnostic yield in exome and genome sequencing across five clinical sites.

medRxiv · Apr 22, 2026 · PreprintGenetic & Genomic Medicine

The NYCKidSeq randomized controlled trial: Impact of GUIA digitally enhanced genetic counseling in racially and ethnically diverse families

Sabrina A. Suckiel, Nicole Kelly, Jacqueline A. Odgis, Katie M. Gallagher, Monisha Sebastin, Katherine E. Bonini, Priya N. Marathe, Kaitlyn M. Brown, Miranda Di Biase, Michelle A. Ramos, Jessica Rodriguez, Laura Scarimbolo, Beverly J. Insel, Kathleen D.M. Ferar, Randi E. Zinberg, , Eimear E. Kenny

The paper evaluates the impact of GUIA, a digital genetic counseling tool, on understanding of genetic test results in diverse families, finding improved understanding in the intervention group.

medRxiv · Jul 5, 2023 · PreprintGenetic & Genomic Medicine