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Office
300 Cedar St
Tac S341d
New Haven, CT 06519Phone+1 203-737-1091Fax+1 203-785-7560- Is this information wrong?
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
- 43 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, Masato Ogishi, Rémi Pescarmona, Estelle Talouarn, Darawan Rinchai, Peng Zhang, Magali Perret, Zhiyon...> ;Science. 2023 Feb 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, Theresa Nauth, Anna-Carina Weiss, Tobias Sieckmann, Ethan Lai, Dervla M Connaughton, Steve S...> ;Journal of the American Society of Nephrology. 2023 Feb 1
- 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, Mazhar Badshah, Jungmin Choi, Weilai Dong, Carol Nelson-Williams, Richard P Lifton, Jangho...> ;Cells. 2022 Sep 30
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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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