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Office
840 Walnut St
Philadelphia, PA 19107Phone+1 215-928-3240Fax+1 215-928-3983
Education & Training
- Sidney Kimmel Medical College at Thomas Jefferson University/Nemours Children's Health, WilmingtonResidency, Pediatrics, 1976 - 1978
- University of the WitwatersrandClass of 1973
Certifications & Licensure
- PA State Medical License 1978 - 2024
- American Board of Medical Genetics and Genomics Clinical Genetics
- American Board of Pediatrics Pediatrics
Awards, Honors, & Recognition
- Philadelphia Magazine Castle Connolly, 2013-2014
Publications & Presentations
PubMed
- 171 citationsMutations in SOX2 cause anophthalmia–esophageal–genital (AEG) syndromeKathleen A. Williamson, Ann M. Hever, Joe Rainger, R. Curtis Rogers, Alex Magee
Human Molecular Genetics. 2006-05-01 - 56 citationsALDH1A3 Loss of Function Causes Bilateral Anophthalmia/Microphthalmia and Hypoplasia of the Optic Nerve and Optic ChiasmMani Yahyavi, Hana Abouzeid, Ghada Gawdat, Anne-Sophie de Preux, Tong Xiao
Human Molecular Genetics. 2013-08-15 - 10 citationsLoss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice.Joe Rainger, Ellen van Beusekom, Jacqueline K Ramsay, Lisa McKie, Lihadh Al-Gazali
Plos Genetics. 2011-07-01
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