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Office
300 Cedar St
Tac S341d
New Haven, CT 06519Phone+1 203-737-1091Fax+1 203-785-7560
Education & Training
- Brigham and Women's HospitalResidency, Internal Medicine, 1984 - 1988
- Stanford University School of MedicineClass of 1982
Certifications & Licensure
- CT State Medical License 1994 - 2024
- American Board of Internal Medicine Internal Medicine
Clinical Trials
- Diagnosis/Pathophysiology of Glucocorticoid Remediable Aldosteronism Hypertension Start of enrollment: 1995 Aug 01
- Congenital Heart Disease GEnetic NEtwork Study (CHD GENES) Start of enrollment: 2010 Nov 15
Publications & Presentations
PubMed
- 69 citationsInborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children.Danyel Lee, Jérémie Le Pen, Ahmad Yatim, Beihua Dong, Yann Aquino
Science. 2023-02-10 - 1 citationsGenetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs.Verena Klämbt, Florian Buerger, Chunyan Wang, Thomas Naert, Karin Richter
Journal of the American Society of Nephrology. 2023-02-01 - 1 citationsA Novel Missense Mutation inCo-Segregates with Cerebellar Ataxia in a Consanguineous Pakistani Family.Zeeshan Gauhar, Leon Tejwani, Uzma Abdullah, Sadia Saeed, Shagufta Shafique
Cells. 2022-09-30
Journal Articles
- Association of Damaging Variants in Genes with Increased Cancer Risk Among Patients with Congenital Heart DiseaseDaniel Quiat, Richard P Lifton, Christine E Seidman, JAMA Cardiology
- Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary TractDeborah R Stein, Friedhelm Hildebrandt, Richard P Lifton, Amar J Majmundar, Nina Mann, Jillian K Warejko, Michelle A Baum, Asaf Vivante, Nancy M Rodig, Jing Chen, Mich..., Journal of the American Society of Nephrology
- GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic SyndromeJillian K Warejko, Friedhelm Hildebrandt, Amar J Majmundar, Heidi L Rehm, Richard P Lifton, Laura S Finn, Ankana Daga, Journal of the American Society of Nephrology
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Press Mentions
- Mani Named Berliner Professor of Internal Medicine (Cardiology) & GeneticsJuly 13th, 2022
- Ayra Mani Appointed Berliner Professor of Internal Medicine (Cardiology)July 13th, 2022
- The New Machinery of Medicine: How Gene Sequencing and High-Performance Computing Are Revolutionizing CareMay 11th, 2022
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