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Office
1250 Waters Place
Children's Hospital at Montefiore (Montefiore Hutchinson Campus)
Bronx, NY 10461Phone+1 718-741-2323Fax+1 718-678-1016
Summary
- I am a clinical geneticist specializing in the use of genomics technologies to diagnose genetic conditions. My clinic focuses on individuals with unexplained rare diseases, and the use of advanced genomic testing to make diagnoses. As I serve the patients of the Bronx, the most diverse county in the US, I am committed to delivering medical genomics equitably to people from all races and ethnicities, and all socio-economic groups.
Education & Training
- Yale-New Haven HospitalFellowship, Clinical Biochemical Genetics, 1993 - 1995
- UPMC Medical EducationResidency, Pediatrics, 1990 - 1993
- National University of Ireland, GalwayClass of 1988, MB BCh BAO, (Honours)
Certifications & Licensure
- CA State Medical License 1995 - Present
- NY State Medical License 2002 - 2025
- CT State Medical License 1993 - 2001
- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Awards, Honors, & Recognition
- Fellow of the American College of Medical Genetics and Genomics American College of Medical Genetics and Genomics, 2013
Publications & Presentations
PubMed
- Regulatory landscape enrichment analysis (RLEA): a computational toolkit for non-coding variant enrichment and cell type prioritization.Samuel Rosean, Eric A Sosa, Dónal O'Shea, Srilakshmi M Raj, Cathal Seoighe
BMC Bioinformatics. 2024-05-07 - 4 citationsDetection of mosaic variants using genome sequencing in a large pediatric cohort.Jacqueline A Odgis, Katie M Gallagher, Atteeq U Rehman, Priya N Marathe, Katherine E Bonini
American Journal of Medical Genetics. Part A. 2023-03-01 - 2 citationsGenomeDiver: a platform for phenotype-guided medical genomic diagnosis.Nathaniel M. Pearson, Christian Stolte, Kevin Shi, Faygel Beren, Noura S. Abul-Husn
Genetics in Medicine. 2021-06-10
Press Mentions
- 12 People in the Life Sciences Industry You Need to KnowApril 29th, 2021
Grant Support
- Epigenomics CoreNational Institute Of Diabetes And Digestive And Kidney Diseases2010–2012
- In Vivo Imaging Of X InactivationNational Institute On Drug Abuse2010–2011
- Epigenetics Landscape Of Chronic Kidney DiseaseNational Institute Of Diabetes And Digestive And Kidney Diseases2009–2011
- Genome-Wide DNA Methylation Profiles Associated With Abnormal Intrauterine GrowthEunice Kennedy Shriver National Institute Of Child Health &Human Development2009–2011
- Bioinformatics Shared ResourceNational Cancer Institute2007–2011
- Massively-Parallel Sequencing Technology For The EpigenomeNational Human Genome Research Institute2007–2009
- Epigenomic Influences Of Diet On Intestinal NeoplasiaNational Cancer Institute2007–2008
- Genomic Analysis Of Mammalian Imprinted LociEunice Kennedy Shriver National Institute Of Child Health &Human Development2005–2008
- Genome-Wide Cytosine Methylation AnalysisNational Cancer Institute2004–2005
- Spectral Imaging And Flourescence Microscopy SystemNational Center For Research Resources2003
- Transgenic Testing Of The 15q11 Q13 Imprinting CentreNational Institute Of Diabetes And Digestive And Kidney Diseases2001
- Matrix Attachment Regions In An Imprinted DomainNational Institute Of Diabetes And Digestive And Kidney Diseases2001
- Matrix Attachment Regions In An Imprinted DomainNational Institute Of Diabetes And Digestive And Kidney Diseases1997–2001
- Transgenic Testing Of The 15q11 Q13 Imprinting CentreNational Institute Of Diabetes And Digestive And Kidney Diseases2000
Professional Memberships
- American Society of Human GeneticsMember
Industry Relationships
- Founder, Digital Medical Genomics Inc.Medical genomics decision support for all clinical specialties, improving health care cost and quality.2021 - Present
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