MauriceJMahoneyMD
Medical Genetics • New Haven, CTClinical Biochemical Genetics, Clinical Genetics
Professor of Clinical Genetics, Yale University
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Office
20 York St
# Yale
New Haven, CT 06510Phone+1 203-785-2660Fax+1 203-785-3404
Education & Training
UPMC Medical EducationResidency, Pediatrics, 1965 - 1966
Johns Hopkins UniversityResidency, Pediatrics, 1962 - 1965
University of Pittsburgh School of MedicineClass of 1962
Certifications & Licensure
CT State Medical License 1968 - 2017- American Board of Medical Genetics and Genomics Clinical Biochemical Genetics
- American Board of Medical Genetics and Genomics Clinical Genetics
- American Board of Pediatrics Pediatrics
Awards, Honors, & Recognition
- CMS Meaningful Use Stage 1 Certification EpicCare Ambulatory EMR, Epic Systems Corporation, 2014
- America's Top Doctors Castle Connolly, 2003-2014
- Top Doctors: New York Metro Area Castle Connolly, 2002-2014
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Clinical Trials
- Prenatal Non-invasive Aneuploidy Test Utilizing SNPs Trial Start of enrollment: 2012 Jan 01
Publications & Presentations
PubMed
- 123 citationsGenotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848Magdalena Koczkowska, Yunjia Chen, Tom Callens, Alicia Gomes, Angela Sharp
American Journal of Human Genetics. 2018-01-04 - 24 citationsExpanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.Magdalena Koczkowska, Tom Callens, Alicia Gomes, Angela Sharp, Yunjia Chen
Genetics in Medicine. 2019-04-01 - 69 citationsGenetic complementation in heterokaryons of human fibroblasts defective in cobalamin metabolism.Roy A. Gravel, Maurice J. Mahoney, Frank H. Ruddle, Leon E. Rosenberg
Proceedings of the National Academy of Sciences of the United States of America. 1975-08-01
Press Mentions
Amid Fears About a Fetal Test, Many Are Advising Against ItJuly 15th, 1992
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