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Office
20 York St
Chilrdrens Hospital At Yale West Pavilion 2nd Floor
New Haven, CT 06519Phone+1 203-785-2660Fax+1 203-785-3404- Is this information wrong?
Education & Training
- Allegheny Health Network Medical Education Consortium (AGH)Residency, Internal Medicine, 1980 - 1983
- Allegheny Health Network Medical Education Consortium (WPH)Internship, Transitional Year, 1979 - 1980
- University of Massachusetts Medical SchoolClass of 1979
Certifications & Licensure
- CT State Medical License 1989 - 2024
- MD State Medical License 1983 - 1994
- PA State Medical License 1980 - 1988
- American Board of Internal Medicine Internal Medicine
- American Board of Medical Genetics and Genomics Clinical Genetics
- American Board of Medical Genetics and Genomics Clinical Molecular Genetics and Genomics
Awards, Honors, & Recognition
- CMS Meaningful Use Stage 1 Certification EpicCare Ambulatory EMR, Epic Systems Corporation, 2014
- America's Top Doctors Castle Connolly, 2009-2014
- Top Doctors: New York Metro Area Castle Connolly, 2009-2014
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Publications & Presentations
PubMed
- A retrospective cohort analysis of the Yale pediatric genomics discovery program.Deniz, E., Samir Al-Ali, Lauren Jeffries, E Vincent S Faustino, Weizhen Ji, Emily Mis, Monica Konstantino, Cynthia Zerillo, Yong-Hui Jiang, Michele Spencer-Manzon, All...> ;American Journal of Medical Genetics. Part A. 2022 Oct 1
- 1 citationsDetecting regions of homozygosity improves the diagnosis of pathogenic variants and uniparental disomy in pediatric patients.Jiadi Wen, Hongyan Chai, Brittany Grommisch, Autumn DiAdamo, Daniel Dykas, Deqiong Ma, Andreea Popa, Chen Zhao, Michele Spencer-Manzon, Yong-Hui Jiang, James McGrath, ...> ;American Journal of Medical Genetics. Part A. 2022 Jun 1
- 6 citationsA novel NFkB1 mutation linking pyoderma gangrenosum and common variable immunodeficiency.Qisi Sun, Jeff R. Gehlhausen, Marianna Freudzon, Nour Kibbi, Allen E. Bale, Keith A. Choate, Mary M. Tomayko, Ian D. Odell, Sarika Ramachandran> ;JAAD Case Reports. 2021 Oct 29
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Press Mentions
- Personalized Care for Aortic Aneurysms, Based on Gene Testing, Has ArrivedJuly 16th, 2015
- As Sequencing Moves into Clinical Use, Insurers BalkJune 19th, 2014
Grant Support
- Genetic Epidemiology Of Early-Onset Basal Cell CarcinomaNational Cancer Institute2010–2011
- Research Programs-Cancer GeneticsNational Cancer Institute2007–2011
- Medical Genetics Training GrantNational Institute Of General Medical Sciences2005–2008
- Suppressor Of Fused Gene In CarcinogenesisNational Cancer Institute2004–2008
- Program Planning And EvaluationNational Cancer Institute2007
- Molecular Calssification Of Basal Cell CarcinomasNational Cancer Institute2003–2004
- Functional Analysis Of MEN1 In Drosophila ModelNational Institute Of General Medical Sciences2002–2004
- Medical Genetics Training ProgramNational Institute Of General Medical Sciences2000–2004
- Breast Cancer Genes In Mexican PopulationsNational Cancer Institute2002–2003
- Developmental Defects And Neoplasia In NbccsNational Cancer Institute1997–2000
- Melanoma Gene Testing In A Tumor Registry PopulationNational Cancer Institute1997–1998
- Genetic Alterations In Basal Cell Carcinoma DevelopmentNational Cancer Institute1994–1996
- Isolation Of The Gene For Multiple Endocrine Neoplasia 1National Cancer Institute1989–1993
Hospital Affiliations
- Yale-New Haven HospitalNew Haven, Connecticut
- Veterans Affairs Connecticut Healthcare SystemWest Haven, Connecticut
- Bridgeport HospitalBridgeport, Connecticut
- Bridgeport HospitalBridgeport, Connecticut
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